Author: "Guillén, A." / Topic: humans - Searchworks@Jio Institute Digital Library Search Results

3,129 results on '"Guillén, A."'

1. Early‐onset Alzheimer's disease shows a distinct neuropsychological profile and more aggressive trajectories of cognitive decline than late‐onset

Author: Tort‐Merino, Adrià, Falgàs, Neus, Allen, Isabel E, Balasa, Mircea, Olives, Jaume, Contador, José, Castellví, Magdalena, Juncà‐Parella, Jordi, Guillén, Núria, Borrego‐Écija, Sergi, Bosch, Bea, Fernández‐Villullas, Guadalupe, Ramos‐Campoy, Oscar, Antonell, Anna, Rami, Lorena, Sánchez‐Valle, Raquel, and Lladó, Albert
Subjects: Biological Psychology, Psychology, Neurosciences, Acquired Cognitive Impairment, Clinical Research, Aging, Neurodegenerative, Behavioral and Social Science, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Brain Disorders, Dementia, Alzheimer's Disease, 2.1 Biological and endogenous factors, Aetiology, 2.4 Surveillance and distribution, Neurological, Humans, Aged, Alzheimer Disease, Retrospective Studies, Age of Onset, Cognitive Dysfunction, Neuropsychological Tests, Clinical Sciences, Clinical and health psychology
Abstract: ObjectivesEarly- and late-onset Alzheimer's disease (EOAD and LOAD) share the same neuropathological traits but show distinct cognitive features. We aimed to explore baseline and longitudinal outcomes of global and domain-specific cognitive function in a well characterized cohort of patients with a biomarker-based diagnosis.MethodsIn this retrospective cohort study, 195 participants were included and classified according to their age, clinical status, and CSF AD biomarker profile: 89 EOAD, 37 LOAD, 46 young healthy controls (age ≤ 65 years), and 23 old healthy controls (>65 years). All subjects underwent clinical and neuropsychological assessment, neuroimaging, APOE genotyping and lumbar puncture.ResultsWe found distinct neuropsychological profiles between EOAD and LOAD at the time of diagnosis. Both groups showed similar performances on memory and language domains, but the EOAD patients displayed worsened deficits in visual perception, praxis, and executive tasks (p
Published: 2022

2. Performance of Cervical Screening a Decade Following HPV Vaccination: The Costa Rica Vaccine Trial.

Author: Hu, Shang-Ying, Kreimer, Aimée, Porras, Carolina, Guillén, Diego, Alfaro, Mario, Darragh, Teresa, Stoler, Mark, Villegas, Luis, Ocampo, Rebecca, Rodriguez, Ana, Schiffman, Mark, Tsang, Sabrina, Lowy, Douglas, Schiller, John, Schussler, John, Quint, Wim, Gail, Mitchell, Sampson, Joshua, Hildesheim, Allan, and Herrero, Rolando
Subjects: Costa Rica, Early Detection of Cancer, Female, Human papillomavirus 16, Human papillomavirus 18, Humans, Papillomaviridae, Papillomavirus Infections, Papillomavirus Vaccines, Uterine Cervical Neoplasms, Vaccination, Young Adult
Abstract: BACKGROUND: We investigated the impact of human papillomavirus (HPV) vaccination on the performance of cytology-based and HPV-based screening for detection of cervical precancer among women vaccinated as young adults and reaching screening age. METHODS: A total of 4632 women aged 25-36 years from the Costa Rica HPV Vaccine Trial were included (2418 HPV-vaccinated as young adults and 2214 unvaccinated). We assessed the performance of cytology- and HPV-based cervical screening modalities in vaccinated and unvaccinated women to detect high-grade cervical precancers diagnosed over 4 years and the absolute risk of cumulative cervical precancers by screening results at entry. RESULTS: We detected 95 cervical intraepithelial neoplasia grade 3 or worse (52 in unvaccinated and 43 in vaccinated women). HPV16/18/31/33/45 was predominant (69%) among unvaccinated participants, and HPV35/52/58/39/51/56/59/66/68 predominated (65%) among vaccinated participants. Sensitivity and specificity of cervical screening approaches were comparable between women vaccinated as young adults and unvaccinated women. Colposcopy referral rates were lower in the vaccinated group for HPV-based screening modalities, but the positive predictive value was comparable between the 2 groups. CONCLUSIONS: Among women approaching screening ages, vaccinated as young adults, and with a history of intensive screening, the expected reduction in the positive predictive value of HPV testing, associated with dropping prevalence of HPV-associated lesions, was not observed. This is likely due to the presence of high-grade lesions associated with nonvaccine HPV types, which may be less likely to progress to cancer.
Published: 2022

3. Reproducibility in the absence of selective reporting: An illustration from large‐scale brain asymmetry research

Author: Kong, Xiang‐Zhen, Mathias, Samuel R, Guadalupe, Tulio, Abé, Christoph, Agartz, Ingrid, Akudjedu, Theophilus N, Aleman, Andre, Alhusaini, Saud, Allen, Nicholas B, Ames, David, Andreassen, Ole A, Vasquez, Alejandro Arias, Armstrong, Nicola J, Asherson, Phil, Bergo, Felipe, Bastin, Mark E, Batalla, Albert, Bauer, Jochen, Baune, Bernhard T, Baur‐Streubel, Ramona, Biederman, Joseph, Blaine, Sara K, Boedhoe, Premika, Bøen, Erlend, Bose, Anushree, Bralten, Janita, Brandeis, Daniel, Brem, Silvia, Brodaty, Henry, Yüksel, Dilara, Brooks, Samantha J, Buitelaar, Jan, Bürger, Christian, Bülow, Robin, Calhoun, Vince, Calvo, Anna, Canales‐Rodríguez, Erick Jorge, Cannon, Dara M, Caparelli, Elisabeth C, Castellanos, Francisco X, Cendes, Fernando, Chaim‐Avancini, Tiffany Moukbel, Chantiluke, Kaylita, Chen, Qun‐lin, Chen, Xiayu, Cheng, Yuqi, Christakou, Anastasia, Clark, Vincent P, Coghill, David, Connolly, Colm G, Conzelmann, Annette, Córdova‐Palomera, Aldo, Cousijn, Janna, Crow, Tim, Cubillo, Ana, Dannlowski, Udo, de Bruttopilo, Sara Ambrosino, de Zeeuw, Patrick, Deary, Ian J, Demeter, Damion V, Di Martino, Adriana, Dickie, Erin W, Dietsche, Bruno, Doan, Nhat Trung, Doherty, Colin P, Doyle, Alysa, Durston, Sarah, Earl, Eric, Ehrlich, Stefan, Ekman, Carl Johan, Elvsåshagen, Torbjørn, Epstein, Jeffery N, Fair, Damien A, Faraone, Stephen V, Fernández, Guillén, Flint, Claas, Filho, Geraldo Busatto, Förster, Katharina, Fouche, Jean‐Paul, Foxe, John J, Frodl, Thomas, Fuentes‐Claramonte, Paola, Fullerton, Janice M, Garavan, Hugh, do Santos Garcia, Danielle, Gotlib, Ian H, Goudriaan, Anna E, Grabe, Hans Jörgen, Groenewold, Nynke A, Grotegerd, Dominik, Gruber, Oliver, Gurholt, Tiril, Haavik, Jan, Hahn, Tim, Hansell, Narelle K, Harris, Mathew A, Hartman, Catharina A, del Carmen Valdés Hernández, Maria, and Heslenfeld, Dirk
Subjects: Biological Psychology, Psychology, Neurosciences, Neurological, Adolescent, Adult, Aged, Brain Cortical Thickness, Cerebral Cortex, Datasets as Topic, Humans, Magnetic Resonance Imaging, Middle Aged, Multicenter Studies as Topic, Neuroimaging, Publication Bias, Reproducibility of Results, Young Adult, ENIGMA Laterality Working Group, P-hacking, multisite collaboration, publication bias, reproducibility, team science, Cognitive Sciences, Experimental Psychology, Biological psychology, Cognitive and computational psychology
Abstract: The problem of poor reproducibility of scientific findings has received much attention over recent years, in a variety of fields including psychology and neuroscience. The problem has been partly attributed to publication bias and unwanted practices such as p-hacking. Low statistical power in individual studies is also understood to be an important factor. In a recent multisite collaborative study, we mapped brain anatomical left-right asymmetries for regional measures of surface area and cortical thickness, in 99 MRI datasets from around the world, for a total of over 17,000 participants. In the present study, we revisited these hemispheric effects from the perspective of reproducibility. Within each dataset, we considered that an effect had been reproduced when it matched the meta-analytic effect from the 98 other datasets, in terms of effect direction and significance threshold. In this sense, the results within each dataset were viewed as coming from separate studies in an "ideal publishing environment," that is, free from selective reporting and p hacking. We found an average reproducibility rate of 63.2% (SD = 22.9%, min = 22.2%, max = 97.0%). As expected, reproducibility was higher for larger effects and in larger datasets. Reproducibility was not obviously related to the age of participants, scanner field strength, FreeSurfer software version, cortical regional measurement reliability, or regional size. These findings constitute an empirical illustration of reproducibility in the absence of publication bias or p hacking, when assessing realistic biological effects in heterogeneous neuroscience data, and given typically-used sample sizes.
Published: 2022

4. Plitidepsin has potent preclinical efficacy against SARS-CoV-2 by targeting the host protein eEF1A

Author: White, Kris M, Rosales, Romel, Yildiz, Soner, Kehrer, Thomas, Miorin, Lisa, Moreno, Elena, Jangra, Sonia, Uccellini, Melissa B, Rathnasinghe, Raveen, Coughlan, Lynda, Martinez-Romero, Carles, Batra, Jyoti, Rojc, Ajda, Bouhaddou, Mehdi, Fabius, Jacqueline M, Obernier, Kirsten, Dejosez, Marion, Guillén, María José, Losada, Alejandro, Avilés, Pablo, Schotsaert, Michael, Zwaka, Thomas, Vignuzzi, Marco, Shokat, Kevan M, Krogan, Nevan J, and García-Sastre, Adolfo
Subjects: Infectious Diseases, Pneumonia & Influenza, Biotechnology, Vaccine Related, Biodefense, Lung, Orphan Drug, Emerging Infectious Diseases, Rare Diseases, Pneumonia, Prevention, 5.1 Pharmaceuticals, 5.2 Cellular and gene therapies, Development of treatments and therapeutic interventions, Infection, Good Health and Well Being, Adenosine Monophosphate, Alanine, Animals, Antiviral Agents, COVID-19, Coronavirus Nucleocapsid Proteins, Depsipeptides, Drug Evaluation, Preclinical, Female, HEK293 Cells, Humans, Mice, Inbred C57BL, Mutation, Peptide Elongation Factor 1, Peptides, Cyclic, Phosphoproteins, RNA, Viral, SARS-CoV-2, Virus Replication, COVID-19 Drug Treatment, General Science & Technology
Abstract: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) viral proteins interact with the eukaryotic translation machinery, and inhibitors of translation have potent antiviral effects. We found that the drug plitidepsin (aplidin), which has limited clinical approval, possesses antiviral activity (90% inhibitory concentration = 0.88 nM) that is more potent than remdesivir against SARS-CoV-2 in vitro by a factor of 27.5, with limited toxicity in cell culture. Through the use of a drug-resistant mutant, we show that the antiviral activity of plitidepsin against SARS-CoV-2 is mediated through inhibition of the known target eEF1A (eukaryotic translation elongation factor 1A). We demonstrate the in vivo efficacy of plitidepsin treatment in two mouse models of SARS-CoV-2 infection with a reduction of viral replication in the lungs by two orders of magnitude using prophylactic treatment. Our results indicate that plitidepsin is a promising therapeutic candidate for COVID-19.
Published: 2021

5. Care-giver identity impacts offspring development and performance in an annually social bumble bee.

Author: Costa, Claudinéia P, Fisher, Kaleigh, Guillén, Blanca M, Yamanaka, Naoki, Bloch, Guy, and Woodard, S Hollis
Subjects: Animals, Humans, Bees, Child Development, Learning, Bumble bees, Maternal influence, Offspring development, Evolutionary Biology, Genetics
Abstract: BackgroundThe developmental fates of offspring have the potential to be influenced by the identity of their care-givers and by the nature of the care that they receive. In animals that exhibit both parental and alloparental care, such as the annually eusocial insects, the influence of care-giver identity can be directly assessed to yield mechanistic and evolutionary insights into the origins and elaboration of brood care. Here, we performed a comparative investigation of maternal and worker brood care in bumble bees, a pollinator group where mothers (queens) rear the first offspring in the nest, and then daughters (workers) assume this role upon their emergence. Specifically, we compared the effects of queen and worker brood care on offspring development and also offspring performance, for a set of traits related to sensory biology, learning, and stress resistance.ResultsWe found that queen-reared workers were smaller-bodied than worker-reared offspring, suggesting that bumble bee queens influence body size determination in their offspring. We also found that queen-reared workers were more resistant to starvation, which might be beneficial for early nesting success. These maternal influences could not be explained by feeding rate, given that we detected a similar offspring feeding frequency in both queens and workers.ConclusionBumble bee queens have a unique influence on the development of the first offspring in the nest, which they rear, relative to worker-reared workers. We propose that bumble bee brood care has been shaped by a suite of evolutionary and ecological factors, which might include a maternal influence on traits that promote survival of incipient colonies.
Published: 2021

6. Efficacy of the bivalent HPV vaccine against HPV 16/18-associated precancer: long-term follow-up results from the Costa Rica Vaccine Trial.

Author: Porras, Carolina, Tsang, Sabrina H, Herrero, Rolando, Guillén, Diego, Darragh, Teresa M, Stoler, Mark H, Hildesheim, Allan, Wagner, Sarah, Boland, Joseph, Lowy, Douglas R, Schiller, John T, Schiffman, Mark, Schussler, John, Gail, Mitchell H, Quint, Wim, Ocampo, Rebeca, Morales, Jorge, Rodríguez, Ana C, Hu, Shangying, Sampson, Joshua N, Kreimer, Aimée R, and Costa Rica Vaccine Trial Group
Subjects: Costa Rica Vaccine Trial Group, Humans, Papillomavirus Infections, Vaccines, Combined, Treatment Outcome, Immunization, Double-Blind Method, Time Factors, Adolescent, Adult, Costa Rica, Uterine Cervical Dysplasia, Uterine Cervical Neoplasms, Female, Human papillomavirus 18, Human papillomavirus 16, Papillomavirus Vaccines, Young Adult, Neoplasm Grading, Cervical Cancer, Vaccine Related, Cancer, Biotechnology, HPV and/or Cervical Cancer Vaccines, Clinical Trials and Supportive Activities, Prevention, Clinical Research, HIV/AIDS, Sexually Transmitted Infections, Infectious Diseases, 3.4 Vaccines, Prevention of disease and conditions, and promotion of well-being, Infection, Good Health and Well Being, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract: BackgroundOncogenic human papillomavirus (HPV) infections cause most cases of cervical cancer. Here, we report long-term follow-up results for the Costa Rica Vaccine Trial (publicly funded and initiated before licensure of the HPV vaccines), with the aim of assessing the efficacy of the bivalent HPV vaccine for preventing HPV 16/18-associated cervical intraepithelial neoplasia grade 2 or worse (CIN2+).MethodsWomen aged 18-25 years were enrolled in a randomised, double-blind, controlled trial in Costa Rica, between June 28, 2004, and Dec 21, 2005, designed to assess the efficacy of a bivalent vaccine for the prevention of infection with HPV 16/18 and associated precancerous lesions at the cervix. Participants were randomly assigned (1:1) to receive an HPV 16/18 AS04-adjuvanted vaccine or control hepatitis A vaccine. Vaccines were administered intramuscularly in three 0·5 mL doses at 0, 1, and 6 months and participants were followed up annually for 4 years. After the blinded phase, women in the HPV vaccine group were invited to enrol in the long-term follow-up study, which extended follow-up for 7 additional years. The control group received HPV vaccine and was replaced with a new unvaccinated control group. Women were followed up every 2 years until year 11. Investigators and patients were aware of treatment allocation for the follow-up phase. At each visit, clinicians collected cervical cells from sexually active women for cytology and HPV testing. Women with abnormal cytology were referred to colposcopy, biopsy, and treatment as needed. Women with negative results at the last screening visit (year 11) exited the long-term follow-up study. The analytical cohort for vaccine efficacy included women who were HPV 16/18 DNA-negative at vaccination. The primary outcome of this analysis was defined as histopathologically confirmed CIN2+ or cervical intraepithelial neoplasia grade 3 or worse associated with HPV 16/18 cervical infection detected at colposcopy referral. We calculated vaccine efficacy by year and cumulatively. This long-term follow-up study is registered with ClinicalTrials.gov, NCT00867464.Findings7466 women were enrolled in the Costa Rica Vaccine Trial; 3727 received the HPV vaccine and 3739 received the control vaccine. Between March 30, 2009, and July 5, 2012, 2635 women in the HPV vaccine group and 2836 women in the new unvaccinated control group were enrolled in the long-term follow-up study. 2635 women in the HPV vaccine group and 2677 women in the control group were included in the analysis cohort for years 0-4, and 2073 women from the HPV vaccine group and 2530 women from the new unvaccinated control group were included in the analysis cohort for years 7-11. Median follow-up time for the HPV group was 11·1 years (IQR 9·1-11·7), 4·6 years (4·3-5·3) for the original control group, and 6·2 years (5·5-6·9) for the new unvaccinated control group. At year 11, vaccine efficacy against incident HPV 16/18-associated CIN2+ was 100% (95% CI 89·2-100·0); 34 (1·5%) of 2233 unvaccinated women had a CIN2+ outcome compared with none of 1913 women in the HPV group. Cumulative vaccine efficacy against HPV 16/18-associated CIN2+ over the 11-year period was 97·4% (95% CI 88·0-99·6). Similar protection was observed against HPV 16/18-associated CIN3-specifically at year 11, vaccine efficacy was 100% (95% CI 78·8-100·0) and cumulative vaccine efficacy was 94·9% (73·7-99·4). During the long-term follow-up, no serious adverse events occurred that were deemed related to the HPV vaccine. The most common grade 3 or worse serious adverse events were pregnancy, puerperium, and perinatal conditions (in 255 [10%] of 2530 women in the unvaccinated control group and 201 [10%] of 2073 women in the HPV vaccine group). Four women in the unvaccinated control group and three in the HPV vaccine group died; no deaths were deemed to be related to the HPV vaccine.InterpretationThe bivalent HPV vaccine has high efficacy against HPV 16/18-associated precancer for more than a decade after initial vaccination, supporting the notion that invasive cervical cancer is preventable.FundingUS National Cancer Institute.
Published: 2020

7. Optimized Vivid-derived Magnets photodimerizers for subcellular optogenetics in mammalian cells

Author: Benedetti, Lorena, Marvin, Jonathan S, Falahati, Hanieh, Guillén-Samander, Andres, Looger, Loren L, and De Camilli, Pietro
Subjects: Biochemistry and Cell Biology, Biological Sciences, Generic health relevance, Animals, Biological Transport, COS Cells, Chlorocebus aethiops, Dimerization, Fungal Proteins, HeLa Cells, Humans, Kinetics, Light, Lipid Metabolism, Mice, Inbred C57BL, Optogenetics, Organelles, Phosphatidylinositol Phosphates, Protein Engineering, Protein Multimerization, Protein Stability, Protein Transport, Hela Cells, LOV domain, VAP, Vivid, cell biology, contact sites, human, light-dependent dimerizers, organelle contacts, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract: Light-inducible dimerization protein modules enable precise temporal and spatial control of biological processes in non-invasive fashion. Among them, Magnets are small modules engineered from the Neurospora crassa photoreceptor Vivid by orthogonalizing the homodimerization interface into complementary heterodimers. Both Magnets components, which are well-tolerated as protein fusion partners, are photoreceptors requiring simultaneous photoactivation to interact, enabling high spatiotemporal confinement of dimerization with a single excitation wavelength. However, Magnets require concatemerization for efficient responses and cell preincubation at 28°C to be functional. Here we overcome these limitations by engineering an optimized Magnets pair requiring neither concatemerization nor low temperature preincubation. We validated these 'enhanced' Magnets (eMags) by using them to rapidly and reversibly recruit proteins to subcellular organelles, to induce organelle contacts, and to reconstitute OSBP-VAP ER-Golgi tethering implicated in phosphatidylinositol-4-phosphate transport and metabolism. eMags represent a very effective tool to optogenetically manipulate physiological processes over whole cells or in small subcellular volumes.
Published: 2020

8. Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity.

Author: Gunz, Philipp, Tilot, Amanda, Wittfeld, Katharina, Teumer, Alexander, Shapland, Chin, Dannemann, Michael, Vernot, Benjamin, Neubauer, Simon, Guadalupe, Tulio, Fernández, Guillén, Brunner, Han, Enard, Wolfgang, Fallon, James, Hosten, Norbert, Völker, Uwe, Profico, Antonio, Di Vincenzo, Fabio, Manzi, Giorgio, Kelso, Janet, St Pourcain, Beate, Hublin, Jean-Jacques, Franke, Barbara, Pääbo, Svante, Grabe, Hans, Fisher, Simon, Van Erp, Theodorus, and Macciardi, Fabio
Subjects: Neandertal, basal ganglia, brain shape, cerebellum, evolution, gene expression, genetic association, homo sapiens, magnetic resonance imaging, myelination, Adolescent, Adult, Aged, Aged, 80 and over, Animals, Biological Evolution, Female, Fossils, Humans, Hybridization, Genetic, Male, Middle Aged, Neanderthals, Netherlands, Phenotype, Skull, Young Adult
Abstract: One of the features that distinguishes modern humans from our extinct relatives and ancestors is a globular shape of the braincase [1-4]. As the endocranium closely mirrors the outer shape of the brain, these differences might reflect altered neural architecture [4, 5]. However, in the absence of fossil brain tissue, the underlying neuroanatomical changes as well as their genetic bases remain elusive. To better understand the biological foundations of modern human endocranial shape, we turn to our closest extinct relatives: the Neandertals. Interbreeding between modern humans and Neandertals has resulted in introgressed fragments of Neandertal DNA in the genomes of present-day non-Africans [6, 7]. Based on shape analyses of fossil skull endocasts, we derive a measure of endocranial globularity from structural MRI scans of thousands of modern humans and study the effects of introgressed fragments of Neandertal DNA on this phenotype. We find that Neandertal alleles on chromosomes 1 and 18 are associated with reduced endocranial globularity. These alleles influence expression of two nearby genes, UBR4 and PHLPP1, which are involved in neurogenesis and myelination, respectively. Our findings show how integration of fossil skull data with archaic genomics and neuroimaging can suggest developmental mechanisms that may contribute to the unique modern human endocranial shape.
Published: 2019

9. Mandibular angle morphology in open bite subjects according to the skeletal relationship: a cbct short report

Author: Gina Laquihuanaco, Yalil Rodríguez-Cárdenas, Gustavo Ruíz-Mora, Abraham Meneses-López, and Luis Arriola-Guillén
Subjects: mandible, open bite, cone-beam computed tomography, cephalometry, malocclusion, humans, Dentistry, RK1-715
Abstract: Aim: The purpose of this research was to three-dimensionally evaluate the mandibular angle morphology in open bite subjects with different sagittal skeletal relationships. Material and Methods: Cone beam computed tomography (CBCT) images of 26 subjects (12 men and 14 women) with anterior open bite were evaluated. The sample included 3 groups categorized by their sagittal skeletal relationship (based on ANB angle and anteroposterior dysplasia indicator (APDI)): Class I (n=9), Class II (n=6) and Class III (n=11). The total gonial angle, upper gonial angle, lower gonial angle, intergonial width, interantegonial width and antegonial notch depth were measured. ANOVA and Tukey tests were used for intergroup comparison. The Kruskal Wallis test was also used when necessary. In addition, the Pearson correlation coefficient was calculated to evaluate significant correlations between overbite and antegonial notch depth with gonial angle, Frankfurt mandibular plane angle (FMA) and the palatal plane-mandibular plane (PP-MP). Results: A significant difference was only found on the upper gonial angle between Class II and Class III (p=0.047). The upper gonial angle showed greater values (48°±3°) with the mandibular branch toward backward in Class III subjects and lower values (42.42°±4.39°) with the mandibular ramus leaning forward in subjects with Class II skeletal relationship. Besides, only a statistically significant correlation was found between overbite and the lower gonial angle (r=-0.418, p=0.034). Conclusion: Mandibular angle morphology is similar in anterior open bite subjects with different sagittal skeletal relationships, except for the upper gonial angle which is increased in Class III and decreased in Class II subjects with open bite. Lower gonial angle is negatively correlated with overbite. This difference should be considered by orthodontists when planning their treatments.
Published: 2022
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10. Comprehensive long‐term efficacy and safety of recombinant human alpha‐mannosidase (velmanase alfa) treatment in patients with alpha‐mannosidosis

Author: Lund, Allan M, Borgwardt, Line, Cattaneo, Federica, Ardigò, Diego, Geraci, Silvia, Gil‐Campos, Mercedes, De Meirleir, Linda, Laroche, Cécile, Dolhem, Philippe, Cole, Duncan, Tylki‐Szymanska, Anna, Lopez‐Rodriguez, Monica, Guillén‐Navarro, Encarna, Dali, Christine I, Héron, Bénédicte, Fogh, Jens, Muschol, Nicole, Phillips, Dawn, Van den Hout, JM Hannerieke, Jones, Simon A, Amraoui, Yasmina, Harmatz, Paul, and Guffon, Nathalie
Subjects: Biomedical and Clinical Sciences, Clinical Sciences, Clinical Trials and Supportive Activities, Clinical Research, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Activities of Daily Living, Adolescent, Adult, Child, Enzyme Replacement Therapy, Europe, Female, Follow-Up Studies, Humans, Male, Quality of Life, Recombinant Proteins, Severity of Illness Index, Treatment Outcome, Young Adult, alpha-Mannosidase, alpha-Mannosidosis, Alpha-mannosidosis, Recombinant human alpha-mannosidase, Lysosomal storage disorder, Enzyme replacement therapy, Velmanase alfa, Integrated analysis, Genetics & Heredity, Genetics, Clinical sciences
Abstract: IntroductionLong-term outcome data provide important insights into the clinical utility of enzyme replacement therapies. Such data are presented for velmanase alfa in the treatment of alpha-mannosidosis (AM).MethodsPatient data (n = 33; 14 adults, 19 paediatric) from the clinical development programme for velmanase alfa were integrated in this prospectively-designed analysis of long-term efficacy and safety. Patients who participated in the phase I/II or phase III trials and were continuing to receive treatment after completion of the trials were invited to participate in a comprehensive evaluation visit to assess long-term outcomes. Primary endpoints were changes in serum oligosaccharide and the 3-minute stair climb test (3MSCT).ResultsMean (SD) treatment exposure was 29.3 (15.2) months. Serum oligosaccharide levels were significantly reduced in the overall population at 12 months (mean change: -72.7%, P
Published: 2018

11. Mapping cortical brain asymmetry in 17,141 healthy individuals worldwide via the ENIGMA Consortium

Author: Kong, Xiang-Zhen, Mathias, Samuel R, Guadalupe, Tulio, Glahn, David C, Franke, Barbara, Crivello, Fabrice, Tzourio-Mazoyer, Nathalie, Fisher, Simon E, Thompson, Paul M, Francks, Clyde, Abé, Christoph, Agartz, Ingrid, Akudjedu, Theophilus N, Aleman, Andre, Alhusaini, Saud, Allen, Nicholas B, Ames, David, Andreassen, Ole A, Vasquez, Alejandro Arias, Armstrong, Nicola J, Bergo, Felipe, Bastin, Mark E, Batalla, Albert, Bauer, Jochen, Baune, Bernhard T, Baur-Streubel, Ramona, Biederman, Joseph, Blaine, Sara K, Boedhoe, Premika, Bøen, Erlend, Bose, Anushree, Bralten, Janita, Brandeis, Daniel, Brem, Silvia, Brodaty, Henry, Yüksel, Dilara, Brooks, Samantha J, Buitelaar, Jan, Bürger, Christian, Bülow, Robin, Calhoun, Vince, Calvo, Anna, Canales-Rodríguez, Erick Jorge, Canive, Jose M, Cannon, Dara M, Caparelli, Elisabeth C, Castellanos, Francisco X, Cavalleri, Gianpiero L, Cendes, Fernando, Chaim-Avancini, Tiffany Moukbel, Chantiluke, Kaylita, Chen, Qun-lin, Chen, Xiayu, Cheng, Yuqi, Christakou, Anastasia, Clark, Vincent P, Coghill, David, Connolly, Colm G, Conzelmann, Annette, Córdova-Palomera, Aldo, Cousijn, Janna, Crow, Tim, Cubillo, Ana, Dale, Anders, Dannlowski, Udo, Ambrosino de Bruttopilo, Sara, de Zeeuw, Patrick, Deary, Ian J, Delanty, Norman, Demeter, Damion V, Di Martino, Adriana, Dickie, Erin W, Dietsche, Bruno, Doan, N Trung, Doherty, Colin P, Doyle, Alysa, Durston, Sarah, Earl, Eric, Ehrlich, Stefan, Ekman, Carl Johan, Elvsåshagen, Torbjørn, Epstein, Jeffery N, Fair, Damien A, Faraone, Stephen V, Fernández, Guillén, Filho, Geraldo Busatto, Förster, Katharina, Fouche, Jean-Paul, Foxe, John J, Frodl, Thomas, Fuentes-Claramonte, Paola, Fullerton, Janice, Garavan, Hugh, Garcia, Danielle do Santos, Gotlib, Ian H, Goudriaan, Anna E, and Grabe, Hans Jörgen
Subjects: Neurosciences, Clinical Research, Brain Disorders, Mental Health, Biomedical Imaging, Underpinning research, 1.1 Normal biological development and functioning, Neurological, Mental health, Adolescent, Adult, Aged, Aged, 80 and over, Cerebral Cortex, Child, Child, Preschool, Databases, Factual, Female, Humans, Infant, Male, Middle Aged, Neuroimaging, Young Adult, brain asymmetry, lateralization, cortical thickness, surface area, meta-analysis, ENIGMA Laterality Working Group
Abstract: Hemispheric asymmetry is a cardinal feature of human brain organization. Altered brain asymmetry has also been linked to some cognitive and neuropsychiatric disorders. Here, the ENIGMA (Enhancing NeuroImaging Genetics through Meta-Analysis) Consortium presents the largest-ever analysis of cerebral cortical asymmetry and its variability across individuals. Cortical thickness and surface area were assessed in MRI scans of 17,141 healthy individuals from 99 datasets worldwide. Results revealed widespread asymmetries at both hemispheric and regional levels, with a generally thicker cortex but smaller surface area in the left hemisphere relative to the right. Regionally, asymmetries of cortical thickness and/or surface area were found in the inferior frontal gyrus, transverse temporal gyrus, parahippocampal gyrus, and entorhinal cortex. These regions are involved in lateralized functions, including language and visuospatial processing. In addition to population-level asymmetries, variability in brain asymmetry was related to sex, age, and intracranial volume. Interestingly, we did not find significant associations between asymmetries and handedness. Finally, with two independent pedigree datasets (n = 1,443 and 1,113, respectively), we found several asymmetries showing significant, replicable heritability. The structural asymmetries identified and their variabilities and heritability provide a reference resource for future studies on the genetic basis of brain asymmetry and altered laterality in cognitive, neurological, and psychiatric disorders.
Published: 2018

12. Human subcortical brain asymmetries in 15,847 people worldwide reveal effects of age and sex.

Author: Guadalupe, Tulio, Mathias, Samuel R, vanErp, Theo GM, Whelan, Christopher D, Zwiers, Marcel P, Abe, Yoshinari, Abramovic, Lucija, Agartz, Ingrid, Andreassen, Ole A, Arias-Vásquez, Alejandro, Aribisala, Benjamin S, Armstrong, Nicola J, Arolt, Volker, Artiges, Eric, Ayesa-Arriola, Rosa, Baboyan, Vatche G, Banaschewski, Tobias, Barker, Gareth, Bastin, Mark E, Baune, Bernhard T, Blangero, John, Bokde, Arun LW, Boedhoe, Premika SW, Bose, Anushree, Brem, Silvia, Brodaty, Henry, Bromberg, Uli, Brooks, Samantha, Büchel, Christian, Buitelaar, Jan, Calhoun, Vince D, Cannon, Dara M, Cattrell, Anna, Cheng, Yuqi, Conrod, Patricia J, Conzelmann, Annette, Corvin, Aiden, Crespo-Facorro, Benedicto, Crivello, Fabrice, Dannlowski, Udo, de Zubicaray, Greig I, de Zwarte, Sonja MC, Deary, Ian J, Desrivières, Sylvane, Doan, Nhat Trung, Donohoe, Gary, Dørum, Erlend S, Ehrlich, Stefan, Espeseth, Thomas, Fernández, Guillén, Flor, Herta, Fouche, Jean-Paul, Frouin, Vincent, Fukunaga, Masaki, Gallinat, Jürgen, Garavan, Hugh, Gill, Michael, Suarez, Andrea Gonzalez, Gowland, Penny, Grabe, Hans J, Grotegerd, Dominik, Gruber, Oliver, Hagenaars, Saskia, Hashimoto, Ryota, Hauser, Tobias U, Heinz, Andreas, Hibar, Derrek P, Hoekstra, Pieter J, Hoogman, Martine, Howells, Fleur M, Hu, Hao, Hulshoff Pol, Hilleke E, Huyser, Chaim, Ittermann, Bernd, Jahanshad, Neda, Jönsson, Erik G, Jurk, Sarah, Kahn, Rene S, Kelly, Sinead, Kraemer, Bernd, Kugel, Harald, Kwon, Jun Soo, Lemaitre, Herve, Lesch, Klaus-Peter, Lochner, Christine, Luciano, Michelle, Marquand, Andre F, Martin, Nicholas G, Martínez-Zalacaín, Ignacio, Martinot, Jean-Luc, Mataix-Cols, David, Mather, Karen, McDonald, Colm, McMahon, Katie L, Medland, Sarah E, Menchón, José M, Morris, Derek W, Mothersill, Omar, Maniega, Susana Munoz, and Mwangi, Benson
Subjects: Brain, Humans, Magnetic Resonance Imaging, Organ Size, Aging, Sex Characteristics, Quantitative Trait, Heritable, Adolescent, Adult, Aged, Middle Aged, Female, Male, Functional Laterality, Meta-Analysis as Topic, Young Adult, Age, Enigma, Handedness, Heritability, Meta-analysis, Sex, Subcortical brain asymmetry, Quantitative Trait, Heritable, Medical and Health Sciences, Psychology and Cognitive Sciences, Experimental Psychology
Abstract: The two hemispheres of the human brain differ functionally and structurally. Despite over a century of research, the extent to which brain asymmetry is influenced by sex, handedness, age, and genetic factors is still controversial. Here we present the largest ever analysis of subcortical brain asymmetries, in a harmonized multi-site study using meta-analysis methods. Volumetric asymmetry of seven subcortical structures was assessed in 15,847 MRI scans from 52 datasets worldwide. There were sex differences in the asymmetry of the globus pallidus and putamen. Heritability estimates, derived from 1170 subjects belonging to 71 extended pedigrees, revealed that additive genetic factors influenced the asymmetry of these two structures and that of the hippocampus and thalamus. Handedness had no detectable effect on subcortical asymmetries, even in this unprecedented sample size, but the asymmetry of the putamen varied with age. Genetic drivers of asymmetry in the hippocampus, thalamus and basal ganglia may affect variability in human cognition, including susceptibility to psychiatric disorders.
Published: 2017

13. Persistence of Amygdala–Hippocampal Connectivity and Multi-Voxel Correlation Structures During Awake Rest After Fear Learning Predicts Long-Term Expression of Fear

Author: Hermans, Erno J, Kanen, Jonathan W, Tambini, Arielle, Fernández, Guillén, Davachi, Lila, and Phelps, Elizabeth A
Subjects: Biological Psychology, Psychology, Mental Health, Basic Behavioral and Social Science, Neurosciences, Behavioral and Social Science, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Adult, Afferent Pathways, Amygdala, Conditioning, Psychological, Electroshock, Fear, Female, Galvanic Skin Response, Heart Rate, Hippocampus, Humans, Imaging, Three-Dimensional, Magnetic Resonance Imaging, Male, Oxygen, Photic Stimulation, Pupil, Respiration, Rest, Statistics as Topic, Wakefulness, Young Adult, amygdala, fear conditioning, hippocampus, memory consolidation, ventromedial prefrontal cortex, Cognitive Sciences, Experimental Psychology, Biological psychology, Cognitive and computational psychology
Abstract: After encoding, memories undergo a process of consolidation that determines long-term retention. For conditioned fear, animal models postulate that consolidation involves reactivations of neuronal assemblies supporting fear learning during postlearning "offline" periods. However, no human studies to date have investigated such processes, particularly in relation to long-term expression of fear. We tested 24 participants using functional MRI on 2 consecutive days in a fear conditioning paradigm involving 1 habituation block, 2 acquisition blocks, and 2 extinction blocks on day 1, and 2 re-extinction blocks on day 2. Conditioning blocks were preceded and followed by 4.5-min rest blocks. Strength of spontaneous recovery of fear on day 2 served as a measure of long-term expression of fear. Amygdala connectivity primarily with hippocampus increased progressively during postacquisition and postextinction rest on day 1. Intraregional multi-voxel correlation structures within amygdala and hippocampus sampled during a block of differential fear conditioning furthermore persisted after fear learning. Critically, both these main findings were stronger in participants who exhibited spontaneous recovery 24 h later. Our findings indicate that neural circuits activated during fear conditioning exhibit persistent postlearning activity that may be functionally relevant in promoting consolidation of the fear memory.
Published: 2017

14. The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

Author: Thompson, Paul M, Stein, Jason L, Medland, Sarah E, Hibar, Derrek P, Vasquez, Alejandro Arias, Renteria, Miguel E, Toro, Roberto, Jahanshad, Neda, Schumann, Gunter, Franke, Barbara, Wright, Margaret J, Martin, Nicholas G, Agartz, Ingrid, Alda, Martin, Alhusaini, Saud, Almasy, Laura, Almeida, Jorge, Alpert, Kathryn, Andreasen, Nancy C, Andreassen, Ole A, Apostolova, Liana G, Appel, Katja, Armstrong, Nicola J, Aribisala, Benjamin, Bastin, Mark E, Bauer, Michael, Bearden, Carrie E, Bergmann, Ørjan, Binder, Elisabeth B, Blangero, John, Bockholt, Henry J, Bøen, Erlend, Bois, Catherine, Boomsma, Dorret I, Booth, Tom, Bowman, Ian J, Bralten, Janita, Brouwer, Rachel M, Brunner, Han G, Brohawn, David G, Buckner, Randy L, Buitelaar, Jan, Bulayeva, Kazima, Bustillo, Juan R, Calhoun, Vince D, Cannon, Dara M, Cantor, Rita M, Carless, Melanie A, Caseras, Xavier, Cavalleri, Gianpiero L, Chakravarty, M Mallar, Chang, Kiki D, Ching, Christopher RK, Christoforou, Andrea, Cichon, Sven, Clark, Vincent P, Conrod, Patricia, Coppola, Giovanni, Crespo-Facorro, Benedicto, Curran, Joanne E, Czisch, Michael, Deary, Ian J, de Geus, Eco JC, den Braber, Anouk, Delvecchio, Giuseppe, Depondt, Chantal, de Haan, Lieuwe, de Zubicaray, Greig I, Dima, Danai, Dimitrova, Rali, Djurovic, Srdjan, Dong, Hongwei, Donohoe, Gary, Duggirala, Ravindranath, Dyer, Thomas D, Ehrlich, Stefan, Ekman, Carl Johan, Elvsåshagen, Torbjørn, Emsell, Louise, Erk, Susanne, Espeseth, Thomas, Fagerness, Jesen, Fears, Scott, Fedko, Iryna, Fernández, Guillén, Fisher, Simon E, Foroud, Tatiana, Fox, Peter T, Francks, Clyde, Frangou, Sophia, Frey, Eva Maria, Frodl, Thomas, Frouin, Vincent, Garavan, Hugh, Giddaluru, Sudheer, Glahn, David C, Godlewska, Beata, Goldstein, Rita Z, Gollub, Randy L, and Grabe, Hans J
Subjects: Biological Psychology, Health Sciences, Psychology, Mental Health, Genetics, Mental Illness, Human Genome, Neurosciences, Brain Disorders, Biomedical Imaging, Schizophrenia, 2.1 Biological and endogenous factors, Mental health, Neurological, Good Health and Well Being, Brain Mapping, Cooperative Behavior, Genome-Wide Association Study, Humans, Meta-Analysis as Topic, Neuroimaging, MRI, GWAS, Consortium, Meta-analysis, Multi-site, Alzheimer’s Disease Neuroimaging Initiative, EPIGEN Consortium, IMAGEN Consortium, Saguenay Youth Study (SYS) Group, Medical and Health Sciences, Psychology and Cognitive Sciences, Experimental Psychology, Biomedical and clinical sciences, Health sciences
Abstract: The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.
Published: 2014

15. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Author: Kaiser, Frank J, Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J, Fincher, Christopher T, Kaur, Maninder, Bando, Masashige, Amor, David J, Atwal, Paldeep S, Bahlo, Melanie, Bowman, Christine M, Bradley, Jacquelyn J, Brunner, Han G, Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A, Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C, Francey, Lauren J, Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D, Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M, Yntema, Helger, Innes, A Micheil, Kline, Antonie D, Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B, Mannini, Linda, McKee, Shane, Mehta, Sarju G, Micule, Ieva, Care4Rare Canada Consortium, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R, Moser, Joe-Ann S, Noon, Sarah E, Nozaki, Naohito, Nunes, Luis, Pappas, John G, Penney, Lynette S, Pérez-Aytés, Antonio, Petersen, Michael B, Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E, Schindeler, Karen L, Siu, Victoria M, Stark, Zornitza, Strom, Samuel P, Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C, University of Washington Center for Mendelian Genomics, Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J, Jackson, Laird G, Shirahige, Katsuhiko, Pié, Juan, Christianson, David W, Krantz, Ian D, Fitzpatrick, David R, and Deardorff, Matthew A
Subjects: Care4Rare Canada Consortium, University of Washington Center for Mendelian Genomics, Humans, Hypertelorism, De Lange Syndrome, Eye Abnormalities, Histone Deacetylases, Repressor Proteins, Cohort Studies, Sequence Alignment, Amino Acid Sequence, Phenotype, Mutation, Missense, Molecular Sequence Data, Child, Child, Preschool, Infant, Female, Male, Genes, X-Linked, Cranial Fontanelles, Genetics, Rare Diseases, Dental/Oral and Craniofacial Disease, Intellectual and Developmental Disabilities (IDD), Pediatric, Brain Disorders, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Aetiology, Congenital, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for ∼5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA. We also identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS.
Published: 2014

16. Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico

Author: Williams, Amy L, Jacobs, Suzanne BR, Moreno-Macías, Hortensia, Huerta-Chagoya, Alicia, Churchhouse, Claire, Márquez-Luna, Carla, García-Ortíz, Humberto, José Gómez-Vázquez, María, Burtt, Noël P, Aguilar-Salinas, Carlos A, González-Villalpando, Clicerio, Florez, Jose C, Orozco, Lorena, Haiman, Christopher A, Tusié-Luna, Teresa, Altshuler, David, Ripke, Stephan, Manning, Alisa K, Neale, Benjamin, Reich, David, Stram, Daniel O, Fernández-López, Juan Carlos, Romero-Hidalgo, Sandra, Patterson, Nick, Aguilar-Delfín, Irma, Martínez-Hernández, Angélica, Centeno-Cruz, Federico, Mendoza-Caamal, Elvia, Revilla-Monsalve, Cristina, Islas-Andrade, Sergio, Córdova, Emilio, Rodríguez-Arellano, Eunice, Soberón, Xavier, González-Villalpando, María Elena, Henderson, Brian E, Monroe, Kristine, Wilkens, Lynne, Kolonel, Laurence N, Le Marchand, Loic, Riba, Laura, Ordóñez-Sánchez, María Luisa, Rodríguez-Guillén, Rosario, Cruz-Bautista, Ivette, Rodríguez-Torres, Maribel, Muñoz-Hernández, Linda Liliana, Sáenz, Tamara, Gómez, Donají, Alvirde, Ulices, Onofrio, Robert C, Brodeur, Wendy M, Gage, Diane, Murphy, Jacquelyn, Franklin, Jennifer, Mahan, Scott, Ardlie, Kristin, Crenshaw, Andrew T, Winckler, Wendy, Prüfer, Kay, Shunkov, Michael V, Sawyer, Susanna, Stenzel, Udo, Kelso, Janet, Lek, Monkol, Sankararaman, Sriram, MacArthur, Daniel G, Derevianko, Anatoli P, Pääbo, Svante, Gopal, Shuba, Grammatikos, James A, Smith, Ian C, Bullock, Kevin H, Deik, Amy A, Souza, Amanda L, Pierce, Kerry A, Clish, Clary B, Fennell, Timothy, and Farjoun, Yossi
Subjects: Nutrition, Diabetes, Prevention, Genetics, 2.1 Biological and endogenous factors, Aetiology, Metabolic and endocrine, Alleles, Animals, Asian People, Black People, Cohort Studies, Diabetes Mellitus, Type 2, Endoplasmic Reticulum, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Haplotypes, HeLa Cells, Humans, Indians, North American, Lipid Metabolism, Liver, Male, Mexico, Monocarboxylic Acid Transporters, Neanderthals, Polymorphism, Single Nucleotide, RNA, Messenger, Triglycerides, White People, SIGMA Type 2 Diabetes Consortium, Hela Cells, General Science & Technology
Abstract: Performing genetic studies in multiple human populations can identify disease risk alleles that are common in one population but rare in others, with the potential to illuminate pathophysiology, health disparities, and the population genetic origins of disease alleles. Here we analysed 9.2 million single nucleotide polymorphisms (SNPs) in each of 8,214 Mexicans and other Latin Americans: 3,848 with type 2 diabetes and 4,366 non-diabetic controls. In addition to replicating previous findings, we identified a novel locus associated with type 2 diabetes at genome-wide significance spanning the solute carriers SLC16A11 and SLC16A13 (P = 3.9 × 10(-13); odds ratio (OR) = 1.29). The association was stronger in younger, leaner people with type 2 diabetes, and replicated in independent samples (P = 1.1 × 10(-4); OR = 1.20). The risk haplotype carries four amino acid substitutions, all in SLC16A11; it is present at ~50% frequency in Native American samples and ~10% in east Asian, but is rare in European and African samples. Analysis of an archaic genome sequence indicated that the risk haplotype introgressed into modern humans via admixture with Neanderthals. The SLC16A11 messenger RNA is expressed in liver, and V5-tagged SLC16A11 protein localizes to the endoplasmic reticulum. Expression of SLC16A11 in heterologous cells alters lipid metabolism, most notably causing an increase in intracellular triacylglycerol levels. Despite type 2 diabetes having been well studied by genome-wide association studies in other populations, analysis in Mexican and Latin American individuals identified SLC16A11 as a novel candidate gene for type 2 diabetes with a possible role in triacylglycerol metabolism.
Published: 2014

17. Consensus statement on the use of alemtuzumab in daily clinical practice in Spain

Author: J E, Meca-Lallana, M, Fernández-Prada, E, García Vázquez, S, Moreno Guillén, S, Otero Romero, M, Rus Hidalgo, L M, Villar Guimerans, S, Eichau Madueño, Ó, Fernández Fernández, G, Izquierdo Ayuso, J C, Álvarez Cermeño, C, Arnal García, R, Arroyo González, L, Brieva Ruiz, C, Calles Hernández, A, García Merino, M, González Plata, M Á, Hernández Pérez, E, Moral Torres, J, Olascoaga Urtaza, P, Oliva-Nacarino, C, Oreja-Guevara, R, Ortiz Castillo, A, Oterino, J M, Prieto González, L, Ramió-Torrentá, A, Rodríguez-Antigüedad, A, Saiz, M, Tintoré, X, Montalbán Gairin, Institut Català de la Salut, [Meca-Lallana JE] CSUR Esclerosis Múltiple, Servicio de Neurología, Hospital Clínico Universitario Virgen de la Arrixaca (IMIB-ARRIXACA), Cátedra de Neuroinmunología Clínica y Esclerosis Múltiple, UCAM, Universidad Católica San Antonio, Murcia, Spain. [Fernández-Prada M] Servicio de Medicina Preventiva y Salud Pública, Hospital Vital Álvarez-Buylla, Mieres, Spain. [García Vázquez E] Servicio de MI-Infecciosas, Hospital Clínico Universitario Virgen de la Arrixaca, Departamento de Medicina, Facultad de Medicina, Universidad de Murcia, IMIB-Arrixaca, Murcia, Spain. [Moreno Guillén S] Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Hospital Universitario Ramón y Cajal, Madrid, Spain. [Otero Romero S, Montalbán Gairin X] Servei de Neurologia-Neuroimmunologia, Centre d’Esclerosi Múltiple de Catalunya (CEMCAT), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Rus Hidalgo M] Servicio de Neurología, Hospital Virgen Macarena, Sevilla, Spain, and Vall d'Hebron Barcelona Hospital Campus
Subjects: Multiple Sclerosis, Práctica clínica habitual, España, Otros calificadores::Otros calificadores::/farmacoterapia [Otros calificadores], Effectiveness, Antibodies, Monoclonal, Humanized, Other subheadings::Other subheadings::/drug therapy [Other subheadings], Amino Acids, Peptides, and Proteins::Proteins::Blood Proteins::Immunoproteins::Immunoglobulins::Antibodies::Antibodies, Monoclonal::Antibodies, Monoclonal, Humanized [CHEMICALS AND DRUGS], Multiple sclerosis, Multiple Sclerosis, Relapsing-Remitting, Materials Chemistry, Humans, aminoácidos, péptidos y proteínas::proteínas::proteínas sanguíneas::inmunoproteínas::inmunoglobulinas::anticuerpos::anticuerpos monoclonales::anticuerpos monoclonales humanizados [COMPUESTOS QUÍMICOS Y DROGAS], Alemtuzumab, Seguridad, Anticossos monoclonals - Ús terapèutic, Presa de decisions, Nervous System Diseases::Autoimmune Diseases of the Nervous System::Demyelinating Autoimmune Diseases, CNS::Multiple Sclerosis [DISEASES], Psychological Phenomena::Mental Processes::Thinking::Decision Making::Consensus [PSYCHIATRY AND PSYCHOLOGY], Spain, Eficacia, Esclerosis múltiple, enfermedades del sistema nervioso::enfermedades autoinmunitarias del sistema nervioso::enfermedades autoinmunes desmielinizantes del SNC::esclerosis múltiple [ENFERMEDADES], Safety, fenómenos psicológicos::procesos mentales::pensamiento::toma de decisión::consenso [PSIQUIATRÍA Y PSICOLOGÍA], Esclerosi múltiple - Tractament, Daily clinical practice
Abstract: Alemtuzumab; Eficacia; Práctica clínica habitual Alemtuzumab; Effectiveness; Daily clinical practice Alemtuzumab; Eficàcia; Pràctica clínica habitual Introduction Alemtuzumab is a highly effective drug approved by the European Medicines Agency as a disease-modifying drug for the treatment of relapsing-remitting multiple sclerosis. Objective A consensus document was drafted on the management of alemtuzumab in routine clinical practice in Spain. Development A group of multiple sclerosis specialists reviewed articles addressing treatment with alemtuzumab in patients with multiple sclerosis and published before December 2017. The included studies assessed the drug's efficacy, effectiveness, and safety; screening for infections and vaccination; and administration and monitoring aspects. The initial proposed recommendations were developed by a coordinating group and based on the available evidence and their clinical experience. The consensus process was carried out in 2 stages, with the initial threshold percentage for group agreement established at 80%. The final document with all the recommendations agreed by the working group was submitted for external review and the comments received were considered by the coordinating group. Conclusion The present document is intended to be used as a tool for optimising the management of alemtuzumab in routine clinical practice. Introducción Alemtuzumab es un fármaco de alta eficacia aprobado por la Agencia Europea de Medicamentos como tratamiento modificador de la enfermedad en pacientes con esclerosis múltiple remitente recurrente. Objetivo Elaborar un documento de consenso sobre el manejo de alemtuzumab en la práctica clínica habitual, que sea de aplicación en el ámbito español. Desarrollo Un grupo de expertos en esclerosis múltiple revisó las publicaciones disponibles hasta diciembre de 2017, de tratamiento con alemtuzumab y esclerosis múltiple. Se incluyeron trabajos sobre eficacia, efectividad y seguridad, despistaje de infecciones y vacunación, administración y monitorización. La propuesta inicial de recomendaciones fue desarrollada por un grupo coordinador con base en la evidencia disponible y en su experiencia clínica. El proceso de consenso se llevó a cabo en 2 etapas; se estableció como porcentaje inicial de acuerdo grupal el 80%. El documento final con todas las recomendaciones acordadas por el grupo de trabajo se sometió a revisión externa y los comentarios recibidos fueron considerados por el grupo coordinador. Conclusiones El documento aportado pretende ser una herramienta útil para facilitar el manejo del fármaco en condiciones de práctica clínica habitual. Sanofi-Genzyme provided financial support to this project.
Published: 2022
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18. Effects of hospital facilities on patient outcomes after cancer surgery

Author: Knight, Sr, Chu, K, Lapitan, Mc, Dare, Aj, Pius, R, Shaw, Ca, Drake, Tm, Norman, L, Ademuyiwa, Ao, Adisa, Ao, Aguilera, Ml, Al-Saqqa, Sw, Al-Slaibi, I, Bhangu, A, Biccard, Bm, Brocklehurst, P, Costas-Chavarri, A, Elhadi, M, Fairfield, Cj, Fitzgerald, Je, Ghosh, D, Glasbey, J, Henegouwen, Miv, Ingabire, Jca, Kingham, Tp, Lawani, I, Lieske, B, Lilford, R, Martin, J, Mclean, Ka, Moore, R, Morton, D, Nepogodiev, D, Ntirenganya, F, Pata, F, Pinkney, T, Stephen, R Knight, Catherine, A Shaw, Riinu, Pius, Thomas, M Drake, Lisa, Norman, Adesoji, O Ademuyiwa, Adewale, O Adisa, Maria Lorena Aguilera, Sara, W Al-Saqqa, Ibrahim, Al-Slaibi, Aneel, Bhangu, Bruce, M Biccard, Peter, Brocklehurst, Ainhoa, Costas-Chavarri, Kathryn, Chu, Anna, Dare, Muhammed, Elhadi, Cameron, J Fairfield, J Edward Fitzgerald, Dhruv, Ghosh, James, Glasbey, Mark, I van Berge Henegouwen, C Allen Ingabire, J, T Peter Kingham, Marie Carmela Lapitan, Ismaïl, Lawani, Bettina, Lieske, Richard, Lilford, Janet, Martin, Kenneth, A McLean, Rachel, Moore, Dion, Morton, Dmitri, Nepogodiev, Faustin, Ntirenganya, Francesco, Pata, Thomas, Pinkney, Ahmad Uzair Qureshi, Antonio Ramos-De la Medina, Aya, Riad, Hosni Khairy Salem, Joana, Simões, Richard, Spence, Neil, Smart, Stephen, Tabiri, Hannah, Thomas, Thomas, G Weiser, Malcolm, West, John, Whitaker, Ewen, M Harrison, Arben, Gjata, Maria Marta Modolo, Sebastian, King, Erick, Chan, Sayeda Nazmun Nahar, Ade, Waterman, Dominique, Vervoort, Alemayehu Ginbo Bedada, Bernardo De Azevedo, Ana Gabriela Figueiredo, Manol, Sokolov, Venerand, Barendegere, Gerald, Ekwen, Arnav, Agarwal, Qinyang, Liu, Juan Camilo Correa, Kalisya Luc Malemo, Jacques, Bake, Jakov, Mihanovic, Kamila, Kunčarová, Julius, Orhalmi, Hosni, Salem, Jyri, Teras, Aristotelis, Kechagias, Alexis, P Arnaud, Judith, Lindert, Vasileios, Kalles, Maria-Lorena, Aguilera-Arevalo, Gustavo, Recinos, Zsolt, Baranyai, Basant, Kumar, Harish Neelamraju Lakshmi, Sanoop Koshy Zachariah, Philip, Alexander, Sunil Kumar Venkatappa, Pramesh, C, Radhian, Amandito, Christina, Fleming, Luca, Ansaloni, Gianluca, Pellino, Ahmed, M Altibi, Ibrahim, Nour, Intisar, Hamdun, Ali, M Ghellai, Donatas, Venskutonis, Tomas, Poskus, Justas, Zilinskas, Precious, Malemia, Yong Yong Tew, Elaine, Borg, Sarah, Ellul, Fatima Zahraa Wafqui, David, W Borowski, Anne Sophie van Dalen, Cameron, Wells, Harissou, Adamou, Adesoji, Ademuyiwa, Adewale, Adisa, Kjetil, Søreide, Sara Al Saqqa, Osaid, Alser, Haya, Tahboub, Helmut Alfredo Segovia Lohse, Sebastian Shu Yip, Piotr, Major, António Sampaio Soares, Matei Razvan Bratu, Andrey, Litvin, Armen, Vardanyan, Ahmad, Gudal, Naif, Albati, Jovan, Juloski, Miran, Rems, Sarah, Rayne, Stephanie Van Straten, Yoshan, Moodley, Irene Ortega Vázquez, Jaime, Ruiz-Tovar, Kithsiri Janakantha Senanayake, Sujeewa Priyantha Bandara Thalgaspitiya, Omer Abdelbagi Omer, Anmar, Homeida, Yucel, Cengiz, Daniel, Clerc, Muhammad, Alshaar, Hanen, Bouaziz, Yuksel, Altinel, Matthew, Doe, Maryna, Freigofer, 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Ramadan Hamed, Bader Saqqa, Ahmad Shaheen, Dana Aljaber, Loay Aljaberi, Malak Alwaheidi, Assef Jawaada, Hani Khaldi, Rami Qahoush, Jalil Qari, Rana Saadeh, Ahlam Salim, Aseel Yacoub, Abbas Abbas, Rana Abu Shua'ib, Baraa Abu Zainah, Mahmoud AbuSirrees, Basheer Babaa, Ola Barhoush, Asef Belal Qadomi, Laith Daraghmeh, Reema Haji, Alaa Khatatbeh, Lana Khatib, Salsabeel Qarariah, Yara Quzmar, Khalil Safadi, Roqaya Salameh, Mohammad Hassan, Shifaa Herzallah, Loai Massad, Ahmed Nazzal, Ranin Nazzal, Dennis Escobar, Gustavo Miguel Machain V, Agustin Rodriguez Gonzalez, Jorge Emerson Chachaima Mar, Nathaly Olga Chinchihualpa Paredes, Vicente Cuba, Walter Lopez, Maria Milagros Niquen Jimenez, Nestor Alberto Sanchez Bartra, Olenka Sapallanay Ojeda, Diego Sequeiros, Andrea Toscano Pacheco, María Vergara, Sol Abarca, Rodrigo Alcorta, Giuliano Borda-Luque, Ivan Edward Eusebio Zegarra, Claudia Luján López, Mirella Marrufo, Cinthya Mogrovejo, Andrea Nomura, Yamile Rodríguez Angeles, Maitza Rosario Vidal Meza, Gabriela Zavala, José Neiser Castillo Arrascue, Jomara Caroline Hidrogo Cabrera, José Julio Mariano Larrea Vera, Miguel Osorio, Edgar Alcides Ylatoma Díaz, Mark Anthony Fontanilla, Joseph Roy Fuentes, Anna Leah Salazar, Genieve Dominguez, Marc Paul Lopez, Shiela Macalindong, Mark Augustine Onglao, Arjel Ramirez, Marie Dione Sacdalan, Mayou Martin Tampo, Gemma Leonora Uy, Jeremiah Mangahas, Kenneth Yabut, Joannes Paul Cañete, Bernalynn Eris Cansana, Ernes John Castro, Maria Kaiserin Lipana, Manuel Francisco Roxas, Vlu Jean Zara, Maciej Chroł, Paula Franczak, Michał Orłowski, Piotr Budzyński, Andrzej Budzyński, Pawel Bury, Agata Czerwińska, Jadwiga Dworak, Jacek Dziedzic, Michał Kisielewski, Jan Kulawik, Anna Lasek, Piotr Major, Piotr Małczak, Marcin Migaczewski, Michał Pędziwiatr, Magdalena Pisarska, Dorota Radkowiak, Mateusz Rubinkiewicz, Anna Rzepa, Tomasz Skoczylas, Maciej Stanek, Katarzyna Truszkiewicz, Mateusz Wierdak, Marek Winiarski, Piotr Zarzycki, Anna Zub-Pokrowiecka, Piotr Kowalewski, Rafał Roszkowski, Maciej Walędziak, Miguel Tomé, Sara Patrocinio, Ines Guerreiro, Filipe Almeida, Xavier de Sousa, Nuno Monteiro, Maria Teresa Costa Santos, Daniela de Oliveira, Marta Lopes Serra, Daniela Morgado, Christian Neves, Ana Carolina Oliveira, Alice Pimentel, Sofia Silva, Márcia Carvalho, Lúcia Carvalho, Joana Magalhães, Leonor Matos, Tânia Monteiro, Carlota Ramos, Vanessa Santos, José Barbosa, Jose Costa-Maia, Vítor Devezas, Ana Fareleira, Cristina Fernandes, Diana Gonçalves, Henrique Mora, Marina Morais, Fabiana Silva de Sousa, Sara Catarino Santos, Ana Logrado, André Tojal, Edgar Amorim, Miguel F Cunha, Ana Fazenda, João Pedro Melo Neves, Inês Isabel Sampaio da Nóvoa Gomes Miguel, Diogo Veiga, José Azevedo, Hugo Cardoso Louro, Mariana Leite, José Azevedo, Maria Bairos Menezes, Bárbara Gama, Diana Brito, Marta Cristina Cruz Martins, André Graça E Magalhães, Ana Catarina Longras, Rita Lourenço, Diana Matos, Luis Castro, Filipa Policarpo, 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Maghrabi, Nadim Malibary, Mohammed Nassif, Abdulaziz Saleem, Abdullah Sultan, Wail Tashkandi, Hanaa Tashkandi, Nora Trabulsi, Mouhamadou Bachir Ba, Adja Coumba Diallo, Abdourahmane Ndong, Vladica Cuk, Uroš Janković, Jovan Juloski, Sharon Zhiling Koh, Frederick Koh, Kuok Chung Lee, Kai Yin Lee, Sean Lee, Wei Qi Leong, Bettina Lieske, Su Ann Lui, Prajwala Prakash, Jan Grosek, Gregor Norcic, Ales Tomazic, Nicolas Fitchat, Robert Jaich, Devorah Wineberg, Modise Zacharia Koto, Daniella Baiocchi, Damian Clarke, Christina Johanna Steenkamp, Stephanie Van Straten, Sharon Bannister, Adam Boutall, Galya Chinnery, Anna Coccia, Angela Dell, Parveen Karjiker, Christo Kloppers, Nicholas Loxton, Tumi Mabogoane, Francois Malherbe, Eugenio Panieri, Shreya Rayamajhi, Richard Spence, Tirsa van Wyngaard, Claire Warden, T E Madiba, Yoshan Moodley, Nivashen Pillay, Savannah Brooks, Charlise Kruger, Lisa Hannah Van Der Merwe, Ferhana Gool, Maahir Kariem, Heather Bougard, Kathryn Chu, Nazmie Kariem, Fazlin Noor, Reantha Pillay, Leandi Steynfaardt, Lucía González González, José Miguel Marín Santos, Paula Martín-Borregón, Javier Martínez Caballero, Cristina Nevado García, Pastora Rodriguez Fraga, Gonzalo De Castro Parga, Maria Pilar Fernández Veiga, Lucía Garrido López, Hugo Infante Pino, Irene Lages Cal, Marta López Otero, Manuel Nogueira Sixto, Marta Paniagua García Señorans, Laura Rodríguez Fernández, Alejandro Ruano Poblador, Erika Rufo Crespo, Raquel Sanchez-Santos, Vincenzo Vigorita, Ester Alonso Batanero, Dorisme Asnel, Isabel Cifrian Canales, Elisa Contreras Saiz, Irene De Santiago Alvarez, Tamara Díaz Vico, Sebastian Fernandez Arias, Daniel Fernández Martínez, Carmen García Bernardo, Luis Joaquín García Flórez, Carmen Garcia Gutierrez, Manuel García Munar, Carlos Alberto Márquez Zorrilla Molina, Marta Merayo, José Luis Michi Campos, Maria Moreno Gijon, Jorge L Otero-Diez, Jose Luis Rodicio Miravalles, Lorena Solar-Garcia, Aida Suárez Sánchez, Nuria Truan, Cristina Alejandre Villalobos, Yurena Caballero Díaz, Marta Jimenez, Dacil Montesdeoca, Antonio Navarro-Sánchez, Victor Vega, Juan Beltrán de Heredia, Zahira Gómez, Carlos Jezieniecki, Ana Patricia Legido Morán, Mario Montes-Manrique, Mario Rodriguez-Lopez, María Ruiz Soriano, Jeancarlos Trujillo Díaz, Andrea Vazquez Fernandez, Nuria Argudo, Miguel Pera, Laia Torrent Jansà, Melody García Domínguez, Ignacio Goded, Marta Roldón Golet, Issa Talal El-Abur, Alejandra Utrilla Fornals, Vanesa Zambrana Campos, Maria Del Mar Aguilar Martinez, Marina Bosch, Luis García-Catalá, Luis Sánchez-Guillén, Eva Artigau, Nuria Gomez Romeu, David Julià Bergkvist, Beatriz Espina Perez, Olga Morató, Carles Olona, Beatriz Diéguez, Alexander Forero-Torres, Manuel Losada, Segundo Gomez-Abril, Paula Gonzálvez, Rosario Martinez, Sergio Navarro Martínez, Carmen Payá-Llorente, Álvaro Pérez Rubio, Sandra Santarrufina Martinez, Juan Carlos Sebastián Tomás, Ramon Trullenque Juan, Alberto Gegúndez Simón, Paloma Maté, Maria Isabel Prieto-Nieto, Ines Rubio-Perez, Aitor Urbieta, Marina Vicario Bravo, David Abelló, Matteo Frasson, Alvaro Garcia-Granero, Alfredo Abad Gurumeta, Ane Abad-Motos, Elena Lucena-de Pablo, Beatriz Nozal, Javier Ripollés-Melchor, Rut Salvachúa, Esther Ferrero, Luis Garcia-Sancho Tellez, Irene Ortega Vázquez, Antonio L Picardo, Jose Alberto Rojo López, Laura Patricia Zorrilla Matilla, Carmen Cagigas Fernandez, Sonia Castanedo Bezanilla, José Estevez Tesouro, Maria Jose Fernandez-Diaz, Juan García Cardo, Marcos Gomez Ruiz, Erik Gonzalez-Tolaretxipi, Jaime Jimeno Fraile, Cristobal Poch, Montserrat Rodriguez-Aguirre, Noemí Troche Pesqueira, Maria Soledad Trugeda-Carrera, Javier de la Torre, Ruth Blanco-Colino, Eloy Espin-Basany, Martin Espinosa-Bravo, Clara Morales Comas, Eduardo Reyes Afonso, Joaquín Rivero Déniz, Christian Siso Raber, Mireia Verdaguer Tremolosa, Pramodh Chandrasinghe, Sumudu Kumarage, Nimeshi Wijekoon Arachchilage, Kithsiri Janakantha Senanayake, Ahmed Abdalla Ahmed Elkamel, Mohammed A Adam, Mahmoud Saleh, Nina Blomme, Anders Thorell, Fredrik Wogensen, Andreas Älgå, Dhirar Ansarei, Fuat Celebioglu, Göran Heinius, Linda Nigard, Emil Pieniowski, Sandra Ahlqvist, Ida Björklund, Yucel Cengiz, Andreas Frånberg, Martina Håkansson, Karin Adamo, Oskar Franklin, Malin Sund, Rebecca Wiberg, Yvette Andersson, Abbas Chabok, Maziar Nikberg, Alexander Kugelberg, Claudia Canonica, Dimitrios Christoforidis, Fabrizio Fasolini, Paolo Gaffuri, Mauro Giuliani, Francesco Meani, Sotirios Georgios Popeskou, Silvia Pozza, Wiebke Wandschneider, Lorenz Peterer, Lukas Werner Widmer, Bernd Zimmermann, Panagiotis Bakoleas, Iris Chanousi, Lydia Charalampidou, Lukasz Filip Grochola, Franziska Heid, Sotirios Ntaoulas, Michail Outos, Georgios Peros, Hanna Podolska-Skoczek, Katharina Beate Reinisch, Christian Zielasek, Daniel Clerc, Nicolas Demartines, Jérôme Gilgien, Amaniel Kefleyesus, Pénélope St-Amour, Arnaud Toussaint, Maryam Alhimyar, Bayan Alsaid, Amr Alyafi, Ahmad Alkhaledi, Basel 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P., Montes-Manrique, M., Rodriguez-Lopez, M., Ruiz Soriano, M., Trujillo Diaz, J., Vazquez Fernandez, A., Argudo, N., Pera, M., Torrent Jansa, L., Garcia Dominguez, M., Goded, I., Roldon Golet, M., Talal El-Abur, I., Utrilla Fornals, A., Zambrana Campos, V., Aguilar Martinez, M. D. M., Bosch, M., Garcia-Catala, L., Sanchez-Guillen, L., Artigau, E., Gomez Romeu, N., Julia Bergkvist, D., Espina Perez, B., Morato, O., Olona, C., Dieguez, B., Forero-Torres, A., Losada, M., Gomez-Abril, S., Gonzalvez, P., Martinez, R., Navarro Martinez, S., Paya-Llorente, C., Perez Rubio, A., Santarrufina Martinez, S., Sebastian Tomas, J. C., Trullenque Juan, R., Gegundez Simon, A., Mate, P., Prieto-Nieto, M. I., Rubio-Perez, I., Urbieta, A., Vicario Bravo, M., Abello, D., Frasson, M., Garcia-Granero, A., Abad Gurumeta, A., Abad-Motos, A., Lucena-de Pablo, E., Nozal, B., Ripolles-Melchor, J., Salvachua, R., Ferrero, E., Garcia-Sancho Tellez, L., Picardo, A. L., Rojo Lopez, J. A., Zorrilla Matilla, L. P., Cagigas Fernandez, C., Castanedo Bezanilla, S., Estevez Tesouro, J., Fernandez-Diaz, M. J., Garcia Cardo, J., Gomez Ruiz, M., Gonzalez-Tolaretxipi, E., Jimeno Fraile, J., Poch, C., Rodriguez-Aguirre, M., Troche Pesqueira, N., Trugeda-Carrera, M. S., de la Torre, J., Blanco-Colino, R., Espin-Basany, E., Espinosa-Bravo, M., Morales Comas, C., Reyes Afonso, E., Rivero Deniz, J., Siso Raber, C., Verdaguer Tremolosa, M., Chandrasinghe, P., Kumarage, S., Wijekoon Arachchilage, N., Abdalla Ahmed Elkamel, A., A. Adam, M., Blomme, N., Thorell, A., Wogensen, F., Alga, A., Ansarei, D., Celebioglu, F., Heinius, G., Nigard, L., Pieniowski, E., Ahlqvist, S., Bjorklund, I., Franberg, A., Hakansson, M., Adamo, K., Franklin, O., Sund, M., Wiberg, R., Andersson, Y., Chabok, A., Nikberg, M., Kugelberg, A., Canonica, C., Christoforidis, D., Fasolini, F., Gaffuri, P., Giuliani, M., Meani, F., Popeskou, S. G., Pozza, S., Wandschneider, W., Peterer, L., Widmer, L. W., Zimmermann, B., Bakoleas, P., Chanousi, I., Charalampidou, L., Grochola, L. F., Heid, F., Ntaoulas, S., Outos, M., Peros, G., Podolska-Skoczek, H., Reinisch, K. B., Zielasek, C., Demartines, N., Gilgien, J., Kefleyesus, A., St-Amour, P., Toussaint, A., Alhimyar, M., Alsaid, B., Alyafi, A., Alkhaledi, A., Kouz, B., Omarain, A., Al-Sabbagh, Y., Alkhatib, H., Sara, S., Alhaj, A., Danial, A., Kadoura, L., Maa Albared, S., Monawar, Y., Nahas, L., Abd, B., Saad, A., Wakkaf, H., Bouzaiene, H., Ghalleb, M., Akaydin, E., Akbaba, A. C., Atakul, O., Baltaci, E., Besli, S., Burgu, G., Cenal, U., de Muijnck, C., Demirkaya, H. C., Dogruoz, A., Gezer, Z. I., Gundogdu, Y., Kara, M., Korkmaz, H. K., Kurtoglu, G. K., Ozben, V., Ozmen, B. B., Pektas, A. M., Sel, E. K., Yenidunya, N., Bengur, F. B., Oral, B. M., Yozgatli, T. K., Abdullayev, S., Gunes, M. E., Sahbaz, N. A., Banaz, T., Kargici, K., Kuyumcu, O. F., Yanikoglu, E., Yesilsancak, M., Yilmaz, D., Aktas, M. K., Rencuzogullari, A., Isik, A., Leventoglu, S., Yalcinkaya, A., Yuksel, O., Kalayci, M. U., Kara, Y., Sarici, I. S., Akin, A., Alemdag, G. N., Arslan, E., Baki, B. E., Bodur, M. S., Calik, A., Candas Altinbas, B., Cihanyurdu, I., Erkul, O., Gul, B., Guner, A., Kose, B., Semiz, A., Sevim, Tayar, S., Tomas, K., Tufek, O. Y., Turkyilmaz, S., Ulusahin, M., Usta, A., Yildirim, R., Guler, S. A., Tatar, O. C., Varol, E., Kirimtay, B., Uysal, M., Yildiz, A., Kose, E., Ciftci, A. B., Colak, E., Eraslan, H., Kucuk, G. O., Yemez, K., Lule, H., Bienfait, M., Bua, E., Okalany, N., Basarab, M., Bielosludtsev, O., Kolhanova, K., Perepelytsia, K., Romanukha, K., Savenkov, D., Siryi, S., Tereshchenko, M., Viacheslav, N., Volovetskyi, A., Kebkalo, A., Tryliskyy, Y., Tyselskiy, V., Bruce, E., Chow, B. L., Iddles, E., Mcguckin, S., Newall, N., Ramsay, G., Sharma, P., Stewart, C., Wong, J., Badran, A., Bath, M., Belais, F., Butt, E., Joshi, K., Kapur, M., Shaw, M., Townson, A., Williams, C. Y. K., Gray, T., Greig, R., Husain, M., Murray, E., Mustafa, A., Asif, A., Gokul, A., Shah, M., Akitikori, M. T., Charalabopoulos, A., Davidson, S., Mcnally, S., Rupani, S., Juma, F., Mills, S. C., Muirhead, L., Sellars, K., Walsh, U., Warren, O., Chambers, A., Hunt, R., Boyce, S., Cornwall, H., Tol, I., Argyriou, E. O., Eardley, N., Povey, M., Aithie, J. M. S., Irfan, A., Mcguigan, M. -C., Starr, R., Warren, C. R., Archibald, J., Kirby, G., Kisyov, I., Khoo, C. K., Lee, R., Photiou, D., Davis, R., Prasad, U., Yang, P. Z., Bird, J., Leung, E., Summerour, V., Currow, C., Kiam, J., Tan, G. J. S., Muthusami, A., Pegba-Otemolu, I., Urbonas, T., Nunoo-Mensah, J., Smolskas, E., Boddy, A., Gravante, G., Hunter, D., Andrew, D., Koh, A., Thompson, A., Adams, L., Clements, H. A., De Silva, K., Ekpete, O., Haque, S., Henderson, S., Ibrahim, B., Jayasinghe, T., Livie, J., Mailley, K., Nair, G., Tan, D., Baggaley, C., Dawidziuk, A., Szyszka, B., Barter, C., Gandhi, N., Hassell, K., Hitchin, S., Kelsall, J., Nagy, E., Nessa, A., Whisker, L., Yanni, F., Ali, M., Arora, D., Hediwattege, S., Kumarasinghe, N., Rathore, M., Tennakoon, A., Ali Ahmad, S. M., Bajomo, O., Nadira, F., Celentano, V., Griffiths, E., Karri, R. S., Mak, J. K. C., Pipe, M., Bhatti, M. I., Rabie, M., Boyle, C., Hamilton, D., Mihuna, A., Ng, J. C. K., Nicholson, G., Oliwa, A., Pearson, R., Rose, A., Yong, S. Q., Boereboom, C., Hanna, M., Walter, C., Greensmith, T. S., Mitchell, R., Monaghan, E., Crawford, J., Moug, S., Blackwell, J., Boyd-Carson, H., Herrod, P., Al-Allaf, O., Beattie, M., Bullock, C., Burman, S., Clark, G., Flamey, N., Flannery, O., Harding, A., Kodiatt, B., Lawday, S., Mahapatra, S., Mukundu Nagesh, N., Ng, M., Rye, D., Yoong, A., Clark, L., Deans, C., Edirisooriya, M., Carrington, E. V., Wong, T. L. E., Yusuf, B., Chamberlain, C., Duke, K., Kmiotek, E., Botes, A., Condie, N., Schrire, T., Shah, R., Thomas-Jones, I., Yates, C., Anthony, N., Matthews, E., Sahnan, K., Tankel, J., Tucker, S., Winter Beatty, J., Ziprin, P., Duggan, W., Kantartzi, A., Sridhar, S., Khaw, R. A., Srivastava, P., Underwood, C., Alves do Canto Brum, H., Chopra, S., Davis, L., Hughes, R., Tulley, J., Alberts, J., Athisayaraj, T., Olugbemi, M., Ahmad, K., Chan, C., Chapman, G., Fleming, H., Fox, B., Grewar, J., Hulse, K., Rutherford, D., Sinead, M., Speake, D., Vaughan-Shaw, P. G., Christodoulides, N., Kudhail, S., Welch, M., Husaini, S. M., Lambracos, S., Anyanwu, C., Suresh, R., Thomas, J. S., Gleeson, E., Platoff, R., Saif, A., Enumah, Z., Etchill, E., Gabre-Kidan, A., Bernstein, M., Carrano, F. M., Connors, J., Lynn, P., Melis, M., Newman, E., Foster, D. S., Perrone, K., Titan, A., Ahmad, S., Bafford, A. C. M. D., Dal Molin, M., Hanna, N., Zafar, S. N., Hemmila, M., Napolitano, L., Wong, J. J., Chandler, J., Wood, L., Wren, S., Ottesen, T., You, L., Yu, K., Arcienega Yanez, M. D. P., Ferreira Fernandes, M., Gonzalez, D., Cubas, S., Gonzalez, M. C., Zubiaurre, V., Demolin, R., Giroff, N., Sciuto, P., Campos, M., Rodriguez Cantera, G., Deepika, G., Simuchimba, E., Bulaya, A., Chibuye, C., Chirengendure, B., Kabale, M. -R., Kabongo, K., Munthali, J., Mweso, O., Pikiti, F., Otieno, J., Lai, L. T., Blackman, B., Subramaniam, S., Karim, R., Kok, N., Lee, Y. D., Ali, S., Sinha, A., Corrigan, R., Barnes, N., Wong, F., Dennis, G., Jedamzik, J., Phillips, E., Piette, W., Van hentenryck, M., Koco, H., Lawani, S., Kassa, M. W., Santos Bezerra, T., Gribnev, P., Dimitrov, D., Krastev, P., Oum, S., Bonghaseh, D. T., Al Farsi, M., Alsharqawi, N., Acevedo, V., Castillo Barbosa, A. C., Giron, F., Leon Rodriguez, J. P., Kucan, D., Rosko, D., Barsic, N., Zupan, D., Hegazi, A., Truncikova, V., Fryba, V., Mohamed, M., Nagi, A., Rashad Temerik, A., Elshawy, M. E., Mahmoud, M. I., Anwar, M., Rageh, T., Elmokadem, A., Gaballa, K., Teppo, S., Pengerma, P., Ballouhey, Q., Bergeat, D., Weyl, A., Hain, E., Gyedu, A., Yenli, E., Osei-Poku, D., Rompou, V. -A., Zoikas, A., Gaitanidis, A., Koukis, G., Perivoliotis, K., Tavlas, P., Galanos-Demiris, K., Zografos, G., Karavokyros, I., Xanthopoulou, G., Iordanidou, E., Ayau, F., Garcia, A., Damjan, P., Wason, D., B L, A., Rangganata, E., Kamath, P., O'Connor, D. B., Pinto, M., Perrone, F., Tropeano, F. P., Troilo, F., Bossi, D., Scala, D., Pulitano, L., Carella, M., Pietrabissa, A., Gori, A., Giraudo, G., De Simone, V., Russo, A. A., Braccio, B., Al-Taher, R., Athamneh, S., Parker, A., Sawiee, A., Kattia, A., Tababa, O., Shaeeb, Z., Syminas, V., Jurgaitis, J., Damuleviciene, G., Svagzdys, S., Razafimanjato, N. N. M., Chieng Loo, L., Tiong, I. C., Wan Muhmad, W. F., Vijeyan, H., Li Ying, T., Grech, G., Arrangoiz, R., Jimenez Ley, V. B., Arizpe, D., Lagunes Lara, E., Castro Lopez, E. V., Eaazim, J., Gordinou de Gouberville, M., Bastiaenen, V., Rottier, S., Nahab, F., Ji, M. Y., Seyoji, M., Nwachukwu, C., Emeghara, O., Muhammed, S. E., Idowu, A., Sowemimo, O., Ogundoyin, O., Akande, O., Lott, A., Nadeem, M., Laghari, A. A., Loya, A., Mushtaq, H., Abdullah, M. T., Abuhilal, B., Atawneh, M., Hamdan, H., Alhabil, B., Srour, A., Mousa, I., Da Silva Medina, L., Bartosiak, K., Ferreira, P., Francisco, V., Lemos, R., Frutuoso, L., Fernandes, S., Fonseca, T., Pereira, J., Rachadell, J., Torre, A., Madeira Martins, F., Carvalho, A. C., Rodrigues Ferreira, J., Ribeiro da Silva, B., Devesa, H., Vieira, A., Monica, I., Amaro, M., Sousa, D., Reia, M., Louro, J., Martins, A., Dominguez, J., Santos, I., Freitas Oliveira, N. M., Pereira, J. C., Silva-Vaz, P., Freire, L., Escrevente, R., Negoita, V. M., Shakhmatov, D., Nezerwa, Y., Radulovic, R., Obery, G., Viljoen, F., Mendes, T., Suarez, A., Moncada, E., Fernandez-Hevia, M., Curtis Martinez, C., Gil Garcia, J. M., Gonzalez Zunzarren, M., Idris, T., Eklov, K., Grahn, O., Amin, L., Blomqvist, M., Ajani, C., Kraus, R., Seeger, N., Willemin, M., Rayya, F., Ayash, M., Msouti, R., Kannas, I., Abazid, E., Esper, A., Slim, S., Kavcar, A. S., Aytac, E., Dural, A. C., Ilker, A., Eray, I. C., Kurnaz, E., Altiner, S., Tepe, M. D., Sahin, C., Savli, E., Innocent, A., Babirye, L., Diachenko, A., Hordoskiy, V., Curry, H., Chau, C. Y. C., Robertson, H., Lennon, H., Loi, L., Kirkham, E., Mccann, C., Watts, D., Gurung, B., Wilson, M., Tribedi, T., Garofalo, E., Zahra, B., Macdonald, S., Daniels, I., Ng, N., Khosla, S., Olivier, J., Yue, S. Y. P., Suresh, G., Wellington, J., Lorejo, E., Mossaad, M., Crutcher, M., Alimi, M., Baiu, I., Abdou, H., Conway, A., Peck, C., Perdomo Perez, M. A., Zulu, S., Nakazwe, M., Burger, S., Davies, J., Donaldson, R., Ede, C., Garden, O. J., Lesetedi, C., Mabedi, C., Magill, L., Makinde Alakaloko, F., Makupe, A., Monahan, M., Mulira, S., Muller, E., Musowoyo, J., Olory-Togbe, J. L., Roberts, T., Smith, M., Tayler, V., Windsor, J., Yepez, R., Sundar, S., Runigamugabo, E., Verjee, A., Chen, J., Daya, L., El Aroussi, N., Farina, V., Gnintedeme Olivier, T., Gonzales Nacarino, M., Hammani, A., Honjo, S., Jacobs, R., Kimura, H., Nkoronko, M., Oscullo Yepez, J. J., Pin Hung, W., Raj, A., Romani Pozo, A., Rommaneh, M., Sassamela Fabiano, S. C., Shiroma Gago, C. M., Srinivas, A., Sung, C. -Y., Tai, A., Valle Aranda, Y. C., Venturini, S., Wilguens Lartigue, J., Public and occupational health, AMS - Sports, APH - Health Behaviors & Chronic Diseases, CCA - Cancer Treatment and quality of life, Amsterdam Gastroenterology Endocrinology Metabolism, Cancer Center Amsterdam, and Albarella, Sara
Subjects: global surgery, hospitals, humans, income, neoplasms, postoperative period, poverty, prospective studies, no keywords listed, General Medicine, Prospective Studie, Hospital, Settore MED/18 - Chirurgia Generale, outcome, Hospitals, Humans, Income, Neoplasms, surgery, Postoperative Period, Poverty, Prospective Studies, cancer surgery, Human, hospital facilities
Abstract: © 2022 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 licenseBackground: Early death after cancer surgery is higher in low-income and middle-income countries (LMICs) compared with in high-income countries, yet the impact of facility characteristics on early postoperative outcomes is unknown. The aim of this study was to examine the association between hospital infrastructure, resource availability, and processes on early outcomes after cancer surgery worldwide. Methods: A multimethods analysis was performed as part of the GlobalSurg 3 study—a multicentre, international, prospective cohort study of patients who had surgery for breast, colorectal, or gastric cancer. The primary outcomes were 30-day mortality and 30-day major complication rates. Potentially beneficial hospital facilities were identified by variable selection to select those associated with 30-day mortality. Adjusted outcomes were determined using generalised estimating equations to account for patient characteristics and country-income group, with population stratification by hospital. Findings: Between April 1, 2018, and April 23, 2019, facility-level data were collected for 9685 patients across 238 hospitals in 66 countries (91 hospitals in 20 high-income countries; 57 hospitals in 19 upper-middle-income countries; and 90 hospitals in 27 low-income to lower-middle-income countries). The availability of five hospital facilities was inversely associated with mortality: ultrasound, CT scanner, critical care unit, opioid analgesia, and oncologist. After adjustment for case-mix and country income group, hospitals with three or fewer of these facilities (62 hospitals, 1294 patients) had higher mortality compared with those with four or five (adjusted odds ratio [OR] 3·85 [95% CI 2·58–5·75]; p
Published: 2022
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19. Bodyweight change and its association with food and beverage consumption at the beginning COVID-19 confinement

Author: Brian M. Cavagnari, María Fernanda Vinueza-Veloz, Valeria Carpio-Arias, Samuel Durán-Agüero, Israel Ríos-Castillo, Edna J. Nava-González, Patricio Pérez-Armijo, Saby Camacho-López, Saby Mauricio-Alza, Jhon Jairo Bejarano-Roncancio, Beatríz Núñez-Martínez, Gabriel González-Medina, Sonia Ivankovich-Guillén, Alfonsina Ortíz, Karla Cordón-Arrivillaga, Eliana Romina Meza-Miranda, Leslie Landaeta-Díaz, and Neurosciences
Subjects: Adult, Beverages, Cross-Sectional Studies, Nutrition and Dietetics, SDG 3 - Good Health and Well-being, SARS-CoV-2, Endocrinology, Diabetes and Metabolism, Vegetables, Humans, COVID-19, Weight Gain, Pandemics, United States
Abstract: Objectives: SARS-CoV-2, a newly identified coronavirus responsible for the COVID-19 pandemic, has challenged health services and profoundly impacted people's lifestyles. The objective of the present study was to evaluate the effect of confinement during the COVID-19 pandemic on food consumption patterns and body weight in adults from 12 Ibero-American countries. Methods: Multicentric, cross-sectional study. Data was collected using an online survey disseminated by social networks. The sample included 10 552 people from Spain and 11 Latin American countries who were selected by snowball sampling. Results: While 38.50% of the sample reported weight gain, 16.90% reported weight lost. Weight change was associated with sex, age, country of residence, and education level. People who were not confined more often reported having maintained their weight in comparison to people who were confined. All Latin American countries showed an increased consumption of sweetened drinks, pastry products, fried foods, and alcoholic beverages during confinement. Consumption of eggs and dairy products was independent from body weight change. People who consumed more fruits and vegetables during confinement more often reported having lost weight. In contrast, body weight gain during confinement was associated with increased intake of sugary drinks, baked goods and pastries, pizza, fried foods, and alcoholic beverages. Conclusion: During COVID-19 confinement, the Latin American countries included in this study showed a change in their consumption patterns toward less healthy diets, which in turn was associated with an increase in the body weight of their population.
Published: 2022
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20. Determinants of therapeutic success of corticoids injections in trigger finger syndrome

Author: Carlos Antonio, Guillén Astete, Rocío, Rodriguez López, and Nuria, García Montes
Subjects: Adult, Trigger Finger Disorder, Adrenal Cortex Hormones, Anti-Inflammatory Agents, Humans, Prospective Studies, Longitudinal Studies, General Medicine
Abstract: Trigger finger is a frequent complaint in which corticosteroid infiltrations play a relevant therapeutic role in intermediate degrees of severity when conservative treatment has not worked. However, there are no criteria to select which patients will benefit most from this procedure. The present study aimed to identify the factors leading to the therapeutic success of corticosteroid infiltration in these patients.We designed a prospective longitudinal study based on routine clinical practice with adult patients with a clinical diagnosis of trigger finger grade II or III on the Quinnell scale, who underwent an infiltration of 20 mg of triamcinolone acetate. The outcome variables were to achieve a Quinnell grade I or reduce the severity of the symptoms by at least one category two months after the procedure. To identify the determinants of complete or partial therapeutic success, binary logistic regression predictive modelling was performed using those variables that had a satisfactory univariate correlation.74 patients were included over three years, 42 of whom (61.8%) were classified as Quinnell grade III. After infiltration, 22 (32.4%) achieved complete resolution and 50 (73.5%) partial resolution. The variables tendon thickening (HR 10.72; 95%CI 2.88-39.93; P .001) and progression time (HR 1.23; 95%CI 1.02-1.49; P = .027) proved to be predictors of therapeutic success in complete resolution. For the modelling for partial resolution, the same variables proved to be determining predictors (HR 5.57; 95%CI 1.38-22.41; P = .016 and HR 1.18; 95%CI .99-1.41; P = .051, respectively). Pulley thickening did not demonstrate predictive ability in either model.Our results indicate that the demonstration of finger flexor apparatus thickening is the main determining factor for the success of corticosteroid infiltrations in this pathology. This is in agreement with the histological findings of specimens obtained from both tenosynovial and pulley tissue. In the former, in addition to an infiltrate of inflammatory characteristics, the presence of chondrocytoid cells producing hyaluronic acid is demonstrated. Although the therapeutic success of infiltrations in previous studies reaches 70%, the recurrence rate is similar after 12 months. The selection of patients with tendon thickening ensures therapeutic success in the short term, could reduce recurrence in the long term, and avoid delay in release surgery.
Published: 2022
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21. Primary lung carcinoma in children and adolescents: An analysis of the European Cooperative Study Group on Paediatric Rare Tumours (EXPeRT)

Author: Michael Abele, Viera Bajčiová, Fiona Wright, Sam Behjati, Sarah Voggel, Dominik T. Schneider, Coralie Mallebranche, Maja Česen Mazič, Gabriela Guillén, Malgorzata Krawczyk, Ewa Bień, Jelena Roganovic, Gianni Bisogno, Stefano Chiaravalli, Andrea Ferrari, Ines B. Brecht, Daniel Orbach, Yves Reguerre, and Calogero Virgone
Subjects: EXPeRT, Cancer Research, Adolescent, Syndrome, Adenocarcinoma, Children, Lung carcinoma, Rare tumour, Survival Rate, Carcinoma, Adenosquamous, Oncology, Carcinoma, Squamous Cell, Humans, Carcinoma, Mucoepidermoid, Child, Lung, Retrospective Studies
Abstract: Primary lung carcinoma is an exceptionally rare childhood tumour, as per definition of the European Cooperative Study Group on Paediatric Rare Tumours (EXPeRT), with an incidence of 0.1-0.2/1,000,000 per year. Little is known about the clinical characteristics of children with primary lung carcinoma, a gap which this joint analysis of the EXPeRT group aimed to fill.We performed a retrospective case series of children (aged 0-18 years) with primary lung carcinoma, as collected through the EXPeRT databases between 2000 and 2021. We recorded relevant clinical characteristics including treatment and outcome.Thirty-eight patients were identified with a median age of 12.8 years at diagnosis (range: 0-17). Mucoepidermoid carcinoma (MEC) was the most frequent entity (n = 20), followed by adenocarcinoma (n = 12), squamous cell carcinoma (n = 4), adenosquamous carcinoma (n = 1) and small-cell lung cancer (n = 1). Patients with MEC presented rarely with lymph node metastases (2/20 cases). Overall, 19/20 patients achieved long-lasting remission by surgical resection only. Patients with other histologies often presented in advanced stages (14/18 TNM stage IV). With multimodal treatment, 3-year overall survival was 52% ± 13%. While all patients with squamous cell carcinoma died, the 12 patients with adenocarcinoma had a 3-year overall survival of 64% ± 15%.Primary lung carcinomas rarely occur in children. While the outcome of children with MEC is favourable with surgery alone, patients with other histotypes have a poor prognosis, despite aggressive treatment, highlighting the need to develop new strategies for these children, such as mutation-guided treatment.
Published: 2022
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22. Prevalence and risk factors associated with different comorbidities in obese children and adolescents

Author: Juan Pablo, López-Galisteo, Teresa, Gavela-Pérez, Francisco Javier, Mejorado-Molano, Pilar, Pérez-Segura, Isabel, Aragón-Gómez, Carmen, Garcés, and Leandro, Soriano-Guillén
Subjects: Male, Pediatric Obesity, Nutrition and Dietetics, Adolescent, Endocrinology, Diabetes and Metabolism, Vitamin D Deficiency, Body Mass Index, Endocrinology, Risk Factors, Hypertension, Prevalence, Humans, Female, Child, Dyslipidemias
Abstract: Different obesity-related comorbidities already present in childhood, such as: vitamin D deficiency, impaired carbohydrate metabolism, dyslipidaemia, arterial hypertension and non-alcoholic steatohepatitis. In this study, we aim to analyse the prevalence of comorbidities and to determine the predictive factors that affect these comorbidities.Anthropometric, demographic and biochemical variables were collected from obese patients between six and 18 years of age. Subsequently, a statistical analysis was performed to describe the characteristics of the patients and the prevalence of comorbidities, as well as their predictive factors.A total of 158 obese children (76 boys and 82 girls) with a mean age at diagnosis of 12.48 years and a BMI Z-score of +3.24 SDS were included. The most prevalent comorbidities were vitamin D deficiency (64.2%), insulin resistance (45.1%), dyslipidaemia (32.2%), hyperuricaemia (18.5%) and arterial hypertension (15%). Age, BMI Z-score, percentage of fat mass and male sex have been found to be predictors of these comorbidities.Obese children and adolescents have a high prevalence of comorbidities. Once the diagnosis of obesity has been established, it would be very useful to identify early those patients with a higher risk of comorbidities, knowing their relationship with sex, age, BMI Z-score, percentage of fat mass and pubertal stage.
Published: 2022
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23. Restricted X chromosome introgression and support for Haldane's rule in hybridizing damselflies

Author: Pallavi Chauhan, Bengt Hansson, Janne Swaegers, Rosa Ana Sánchez Guillén, and Maren Wellenreuther
Subjects: Male, Sex Chromosomes, X Chromosome, General Immunology and Microbiology, Models, Genetic, Odonata, Animals, Humans, Hybridization, Genetic, General Medicine, General Agricultural and Biological Sciences, General Biochemistry, Genetics and Molecular Biology, General Environmental Science
Abstract: Contemporary hybrid zones act as natural laboratories for the investigation of species boundaries and may shed light on the little understood roles of sex chromosomes in species divergence. Sex chromosomes are considered to function as a hotspot of genetic divergence between species; indicated by less genomic introgression compared to autosomes during hybridization. Moreover, they are thought to contribute to Haldane's rule, which states that hybrids of the heterogametic sex are more likely to be inviable or sterile. To test these hypotheses, we used contemporary hybrid zones of Ischnura elegans , a damselfly species that has been expanding its range into the northern and western regions of Spain, leading to chronic hybridization with its sister species Ischnura graellsii . We analysed genome-wide SNPs in the Spanish I. elegans and I. graellsii hybrid zone and found (i) that the X chromosome shows less genomic introgression compared to autosomes, and (ii) that males are underrepresented among admixed individuals, as predicted by Haldane's rule. This is the first study in Odonata that suggests a role of the X chromosome in reproductive isolation. Moreover, our data add to the few studies on species with X0 sex determination system and contradict the hypothesis that the absence of a Y chromosome causes exceptions to Haldane's rule.
Published: 2023

24. Evidence Relating Human Verbal Memory to Hippocampal N-methyl-D-Aspartate Receptors

Author: Grunwald, Thomas, Beck, Heinz, Lehnertz, Klaus, Blumcke, Ingmar, Pezer, Nico, Kurthen, Martin, Fernandez, Guillen, Van Roost, Dirk, Heinze, Hans J., Kutas, Marta, and Elger, Christian E.
Published: 1999

25. Effect of the application of software on the volumetric and cross-sectional assessment of the oropharyngeal airway of patients with and without an open bite: A CBCT study

Author: Patricia Vidal-Manyari, Luis Arriola-Guillén, Ludy Jimenez-Valdivia, Heraldo Dias-Da Silveira, and Mariana Boessio-Vizzotto
Subjects: Adult, Male, Adolescent, Open Bite, Spiral Cone-Beam Computed Tomography, General Medicine, Cone-Beam Computed Tomography, Young Adult, Cross-Sectional Studies, Imaging, Three-Dimensional, Humans, Female, General Dentistry, Software
Abstract: Using different software to evaluate the airways, with different thresholds, but within the range for airway recognition, could yield different measurements in the same patient with or without craniofacial disharmony.The aim of the present study was to compare the volume and the most constricted area (MCA) of the oropharynx in individuals with or without an open bite by using 2 software programs meant for cone-beam computed tomography (CBCT).This comparative study included 60 cases selected from 137 CBCT scans obtained from individuals with the presence or absence of an open bite. Each group included adults of both genders - in total 30 women and 30 men - with a mean age of 27.57 ±11.85 years in the open bite group and 26.23 ±6.78 years in the control group. The oropharyngeal volume and MCA were measured with 2 three-dimensional (3D) software packages: Planmeca Romexis®; and Nemotec NemoStudio®. Two calibrated orthodontists trained in the use of the software made the measurements. Data was analyzed using Student's t tests for independent and paired samples (p0.05).In general, the oropharynx volume measurements obtained with the NemoStudio software were significantly higher than those obtained with Romexis (19,007.17 ±8005.79 mm3 and 17,823.47 ±7148.62 mm3, respectively) (p = 0.020). However, when the groups were analyzed separately, the measurements of the group with an open bite did not differ according to the software used (p = 0.352). The measurements of the MCA of the oropharynx were significantly higher when obtained with the NemoStudio software (MD (mean difference) = 19.02 mm2) (p = 0.005). In contrast, no difference in the MCA results for the 2 software packages was found in the open bite group (p = 0.728).The volumetric and cross-sectional measurements of the oropharyngeal airway, particularly in individuals without an open bite, were affected by the software used.
Published: 2022
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26. Extracorporeal photopheresis in paediatric patients: A retrospective comparison between different ‘off‐line’ protocols

Author: Elena Sebastián, Eva María Andrés Esteban, Marta González‐Vicent, Jesús González de Pablo, Josune Zubicaray, Eva Gálvez, María Guillén, Julia Ruiz Pato, Blanca Molina, Gustavo Albi, Manuel Ramírez, Ana Castillo, Florencio Pérez Maroto, Luis Madero, Miguel Ángel Díaz, and Julián Sevilla
Subjects: Photopheresis, Blood Component Removal, Leukocytes, Mononuclear, Graft vs Host Disease, Humans, Hematology, General Medicine, Child, Retrospective Studies
Abstract: Extracorporeal photopheresis (ECP) has been shown to be an effective treatment for graft-versus-host disease (GvHD). However, information regarding lymphocyte collection for ECP in children is limited. The aim of this study was to analyse and compare lymphocyte collection for ECP in children using different devices and protocols. Moreover, we have studied both safety and variables of the infused product related to treatment efficacy.This was a retrospective study of 91 patients who underwent 1524 apheresis procedures with either the COBE Spectra or Spectra Optia system. The comparison study between the Optia protocols (MNC and CMNC) was prioritized. We analysed 578 procedures using the Optia blood cell separator: 204 and 374 using the MNC and the CMNC protocol, respectively.The Optia CMNC protocol showed better collection efficiency, with increased lymphocyte collection per kg of body weight (p 0.001). On multivariate analysis, the type of protocol showed no relationship with haematocrit or platelet loss. Most procedures were well-tolerated, with the most frequent adverse events related to venous access (21.7%). Seventy-one percent of patients had either partial or complete clinical GvHD response. In the multivariate model, only two variables were associated with a better response to ECP, younger age and a greater increase of B lymphocytes after treatment.Lymphocyte collection for ECP is well-tolerated in most children, achieving complete or partial response in more than half of GvHD patients. CMNC is the optimal software to perform lymphocyte collection in children.
Published: 2022
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27. Comparative cytocompatibility of the new calcium silicate-based cement NeoPutty versus NeoMTA Plus and MTA on human dental pulp cells: an in vitro study

Author: Ana Lozano-Guillén, Sergio López-García, Francisco Javier Rodríguez-Lozano, José Luis Sanz, Adrián Lozano, Carmen Llena, and Leopoldo Forner
Subjects: Drug Combinations, Glass Ionomer Cements, Silicates, Materials Testing, Humans, Dental Cements, Calcium, Oxides, Calcium Compounds, Aluminum Compounds, General Dentistry, Dental Pulp, Silicate Cement
Abstract: Objectives The aim of the present in vitro study is to determine the cytocompatibility of the recently introduced NeoPutty in contact with human dental pulp cells compared with its precursor NeoMTA Plus and the classic gold standard MTA Angelus. Materials and methods Sample disks were obtained for each of the tested materials (5 mm diameter; 2 mm thickness; n = 30), along with 1:1, 1:2, and 1:4 material eluents. HDPCs were extracted and cultured with the tested materials (test groups) or in unconditioned medium (control group), and the following biocompatibility assays were performed: MTT assay, scratch wound assay, cell cytoskeleton staining assays, and cell attachment assessment via SEM. Additionally, material ion release and surface element composition were evaluated via ICP-MS and SEM–EDX, respectively. Each experimental condition was carried out three times and assessed in three independent experiments. Statistical significance was established at p Results 1:2 dilutions of all the tested materials exhibited a comparable cell viability to that of the control group at 48 and 72 h of culture (p p > 0.05). All the tested materials exhibited adequate cytocompatibility in the remaining biocompatibility assays. MTA exhibited a significantly higher calcium ion release compared to NeoPutty and NeoMTA Plus (p Conclusion The results from the present work elucidate the adequate cytocompatibility of NeoPutty, NeoMTA Plus, and MTA Angelus towards human dental pulp cells. Clinical relevance Within the limitations of the present in vitro study, our results may act as preliminary evidence for its use in vital pulp therapy as a pulp capper. However, results need to be interpreted with caution until further clinical supporting evidence is reported.
Published: 2022
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28. Clinical and Epidemiological Correlates of Low IFN-Gamma Responses in Mitogen Tube of QuantiFERON Assay in Tuberculosis Infection Screening During the COVID-19 Pandemic: A Population-Based Marker of COVID-19 Mortality?

Author: Juan-José Palacios-Gutiérrez, Azucena Rodríguez-Guardado, Miguel Arias-Guillén, Rebeca Alonso-Arias, Sergio Palacios-Penedo, José-María García-García, Milagros Balbín, Dolores Pérez-Hernández, Marta Sandoval-Torrientes, Aurora Torreblanca-Gil, Santiago Melón, Víctor Asensi-Álvarez, Jeremy M. Clain, and Patricio Escalante
Subjects: Pulmonary and Respiratory Medicine, Interferon-gamma, Latent Tuberculosis, Tuberculin Test, COVID-19, Humans, Mycobacterium tuberculosis, Mitogens, Pandemics, Biomarkers, Interferon-gamma Release Tests, Aged
Abstract: The clinical and epidemiological implications of abnormal immune responses in COVID-19 for latent tuberculosis infection (LTBI) screening are unclear.We reviewed QuantiFERON TB Gold Plus (QFT-Plus) results (36,709 patients) from July 2016 until October 2021 in Asturias (Spain). We also studied a cohort of ninety hospitalized patients with suspected/confirmed COVID-19 pneumonia and a group of elderly hospitalized patients with COVID-19 who underwent serial QFT-Plus and immune profiling testing.The indeterminate QFT-Plus results rate went from 1.4% (July 2016 to November 2019) to 4.2% during the COVID-19 pandemic. The evolution of the number of cases with low/very low interferon-gamma (IFN-gamma) response in the mitogen tube paralleled the disease activity and number of deaths during the pandemic waves in our region (from March 2020 to October 2021). The percentages of positive QFT-plus patients did not significantly change before and during the pandemic (13.9%Low IFN-gamma responses in mitogen tube of QFT-Plus often occur in COVID-19 pneumonia, which is associated with a low number of an effector CD8 + T-cell subset and does not seem to affect LTBI screening; however, this abnormality seems to parallel the dynamics of COVID-19 at the population level and its mortality.
Published: 2022
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29. In transit metastases in children, adolescents and young adults with localized rhabdomyosarcoma of the distal extremities

Author: C.E.J. Terwisscha van Scheltinga, M.H.W.A. Wijnen, H. Martelli, F. Guerin, T. Rogers, R.J. Craigie, G. Guillén Burrieza, P. Dall’Igna, F. De Corti, N. Smeulders, R.R. van Rijn, R.Dávila Fajardo, H.C. Mandeville, I. Zanetti, B. Coppadoro, V. Minard-Colin, M. Jenney, G. Bisogno, M.M. van Noesel, A.F.W. van der Steeg, J.H.M. Merks, Radiology and Nuclear Medicine, Other Research, and Radiology and nuclear medicine
Subjects: Pediatric, Clinical Trials as Topic, Adolescent, Infant, Newborn, Infant, General Medicine, In-transit metastases, Young Adult, Oncology, Lower Extremity, Fluorodeoxyglucose F18, Child, Preschool, Lymphatic Metastasis, Positron Emission Tomography Computed Tomography, Rhabdomyosarcoma, Humans, Surgery, Child, Extremity, Lymph nodes, Neoplasm Staging
Abstract: In-transit metastases (ITM) are defined as metastatic lymph nodes or deposits occurring between the primary tumor and proximal draining lymph node basin. In extremity rhabdomyosarcoma (RMS), they have rarely been reported. This study evaluates the frequency, staging and survival of patients with ITM in distal extremity RMS. Methods: Patients with extremity RMS distal to the elbow or knee, enrolled in the EpSSG RMS 2005 trial between 2005 and 2016 were eligible for this study. Results: One hundred and nine distal extremity RMS patients, with a median age of 6.2 years (range 0–21 years) were included. Thirty seven of 109 (34%) had lymph node metastases at diagnosis, 19 of them (51%) had ITM, especially in lower extremity RMS. 18F-FDG-PET/CT detected involved lymph nodes in 47% of patients. In patients not undergoing 18F-FDG-PET/CT lymph node involvement was detected in 22%. The 5-yr EFS of patients with ITM vs proximal lymph nodes vs combined proximal and ITM was 88.9% vs 21.4% vs 20%, respectively (p = 0.01) and 5-yr OS was 100% vs 25.2% vs 15%, respectively (p = 0.003). Conclusion: Our study showed that in-transit metastases constituted more than 50% of all lymph node metastases in distal extremity RMS. 18F-FDG-PET/CT improved nodal staging by detecting more regional and in-transit metastases. Popliteal and epitrochlear nodes should be considered as true (distal) regional nodes, instead of in-transit metastases. Biopsy of these nodes is recommended especially in distal extremity RMS of the lower limb. Patients with proximal (axillary or inguinal) lymph node involvement have a worse prognosis.
Published: 2022
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30. Prevalence and associated risk factors of intestinal parasites among schoolchildren in Ecuador, with emphasis on the molecular diversity of Giardia duodenalis, Blastocystis sp. and Enterocytozoon bieneusi

Author: Estephany Tapia-Veloz, Mónica Gozalbo, Marisa Guillén, Alejandro Dashti, Begoña Bailo, Pamela C. Köster, Mónica Santín, David Carmena, María Trelis, Generalitat Valenciana (España), Ministerio de Ciencia, Innovación y Universidades (España), and University of Valencia (España)
Subjects: Public Health, Environmental and Occupational Health, Blastocystis Infections, Enterocytozoon, Feces, Infectious Diseases, Cross-Sectional Studies, Risk Factors, Helminths, Blastocystis, Prevalence, Animals, Humans, Parasites, Ecuador, Prospective Studies, Giardia lamblia, Child
Abstract: Background Intestinal helminths, including Soil-Transmitted Helminth (STH), and Gastrointestinal Protist (GP) infections are major contributors to the global burden of disease, particularly in low-income countries such Ecuador. Their epidemiology in these settings is largely unknown. Methodology This prospective cross-sectional study investigates the carriage of intestinal helminths, including STH, and GP in asymptomatic schoolchildren (3–11 years) in the Chimborazo and Guayas provinces, Ecuador. Single stool samples (n = 372) and epidemiological questionnaires on demographics and potential risk factors were collected from participating schoolchildren. Conventional microscopy examination was used as screening method, and molecular (PCR and Sanger sequencing) assays were used to further investigate the epidemiology of some GP. A multivariate logistic regression analysis was used to evaluate the strength of the association of suspected risk factors with the presence of helminths and GP. Principal findings At least one intestinal parasite species was observed by microscopy in 63.2% (235/372) of the participating schoolchildren. Enterobius vermicularis (16.7%, 62/372; 95% CI: 13.0–20.9) and Blastocystis sp. (39.2%, 146/372; 95% CI: 34.2–44.2) were the most prevalent among helminths and GP, respectively. Assemblages A (50.0%), B (37.5%) and A+B (12.5%) were detected within Giardia duodenalis and ST3 (28.6%), ST1 and ST2 (26.2% each), and ST4 (14.3%) within Blastocystis sp. Three genotypes, two known (A: 66.7%; KB-1: 16.7%) and a novel (HhEcEb1, 16.7%) were identified within Enterocytozoon bieneusi. Municipality of origin, household overcrowding, and poor sanitation and personal hygiene habits were risk factors for childhood intestinal parasites colonization. Conclusions/Significance Despite massive government drug administration programs, STH and GP infection remain a public health concern in paediatric populations living in poor-resource settings. Molecular analytical methods are required to better understand the epidemiology of these intestinal parasites. This study provides novel information on the occurrence of Blastocystis sp. and E. bieneusi genetic variants circulating in Ecuadorian human populations.
Published: 2023

31. Sézary syndrome patient–derived models allow drug selection for personalized therapy

Author: Fernando Gallardo, Evelyn Andrades, Arnau Iglesias, Jessica González, Laura Solé, Yolanda Guillén, Gonzalo Blanco, Luis Colomo, Eva Gimeno, David Conde, Eva Rodriguez, Isabel Bielsa-Marso, Mar Iglesias, Beatriz Bellosillo, Ramon M. Pujol, José R. Regueiro, Anna Bigas, and Lluís Espinosa
Subjects: Mammals, Lymphoid neoplasia, Disease Models, Animal, Mice, Skin Neoplasms, Lymphoid Neoplasia, Mice, Inbred NOD, Quality of Life, Animals, Humans, Sezary Syndrome, Mice, SCID, Hematology
Abstract: Current therapeutic approaches for Sézary syndrome (SS) do not achieve a significant improvement in long-term survival of patients, and they are mainly focused on reducing blood tumor burden to improve quality of life. Eradication of SS is hindered by its genetic and molecular heterogeneity. Determining effective and personalized treatments for SS is urgently needed. The present work compiles the current methods for SS patient–derived xenograft (PDX) generation and management to provide new perspectives on treatment for patients with SS. Mononuclear cells were recovered by Ficoll gradient separation from fresh peripheral blood of patients with SS (N = 11). A selected panel of 26 compounds that are inhibitors of the main signaling pathways driving SS pathogenesis, including NF-kB, MAPK, histone deacetylase, mammalian target of rapamycin, or JAK/STAT, was used for in vitro drug sensitivity testing. SS cell viability was evaluated by using the CellTiter-Glo_3D Cell Viability Assay and flow cytometry analysis. We validated one positive hit using SS patient–derived Sézary cells xenotransplanted (PDX) into NOD-SCID-γ mice. In vitro data indicated that primary malignant SS cells all display different sensitivities against specific pathway inhibitors. In vivo validation using SS PDX mostly reproduced the responses to the histone deacetylase inhibitor panobinostat that were observed in vitro. Our investigations revealed the possibility of using high-throughput in vitro testing followed by PDX in vivo validation for selective targeting of SS tumor cells in a patient-specific manner.
Published: 2022
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32. Modified alar batten grafts for treatment in nasal valve dysfunction: Our experience

Author: Alberto Raposo, Jerónimo Lajara, Francisco García-Purriños, and Alberto Guillén
Subjects: congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, medicine.medical_specialty, Nose, engineering.material, Lateral cartilage, medicine, Humans, Nasal Septum, Retrospective Studies, Surgical team, business.industry, Functional rhinoplasty, nutritional and metabolic diseases, General Medicine, Rhinoplasty, Surgery, Nasal valve, surgical procedures, operative, Key factors, Batten, Otorhinolaryngology, engineering, Public university, Ear Cartilage, business, Closed rhinoplasty
Abstract: Objective Alar batten grafts are used to treat in nasal valve dysfunction (NVD). They can be placed by open or closed rhinoplasty using rib, septal, or auricular concha cartilage. Our surgical team used a modified placement of the classic alar batten.We aim to describe these changes and to the technique and demonstrate that modified alar batten grafts can improve the effects of spreader grafts and classic alar batten grafts. Methods A retrospective study of 91 functional rhinoplasties was performed from March 2011 to November 2019 at a public university hospital in Murcia. The patients were divided into three groups. Group A included patients operated on using spreader grafts, group B included patients operated on using spreader grafts associated with alar batten grafts fixed to the caudal edge of the lateral crura of the lower lateral cartilage (LLC), and group C included patients operated on using modified alar batten grafts. Results A total of 91 functional rhinoplasties were performed, 31 patients were operated on in group A, 27 patients were operated on in group B, and 33 patients were operated on in group C. The success rate was 67.7% in group A, 70.4% in group B and 93.9% in group C. Conclusion Modified alar batten grafts achieved better results than spreader grafts and spreader grafts associated with classic alar batten grafts. The size, position and placement of the sutures of modified alar batten grafts were the key factors in improving our results.
Published: 2022
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33. Efficacy and safety of hydroxychloroquine in healthcare professionals with mild SARS-CoV-2 infection: Prospective, non-randomized trial

Author: Mª Queralt Gorgas, Benito Almirante, Alfonso Ayora, Andrés Antón, Juliana Esperalba, Xavier Vidal, Cristina Aguilera, Esteban Ribera, Manuel Alonso, Antònia Agustí, Elena Guillén, Meritxell Espuga, and Cristina Andrés
Subjects: 0301 basic medicine, Microbiology (medical), Adult, Male, medicine.medical_specialty, Health Personnel, 030106 microbiology, Loading dose, Article, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, hidroxicloroquina, pacientes externos, Internal medicine, Outpatients, Health care, medicine, Healthcare workers, Humans, 030212 general & internal medicine, Prospective Studies, Infección por SARS-CoV-2, business.industry, SARS-CoV-2, SARS-CoV-2 infection, COVID-19, Hydroxychloroquine, medicine.disease, Intensive care unit, COVID-19 Drug Treatment, Diarrhea, Pneumonia, trabajadores sanitarios, Female, medicine.symptom, business, Viral load, Delivery of Health Care, medicine.drug
Abstract: Objectives To assess the efficacy and safety of hydroxychloroquine (HCQ) compared with no treatment in healthcare workers with mild SARS-CoV-2 infection. Methods Prospective, non-randomized study. All health professionals with confirmed COVID-19 between April 7 and May 6, 2020, non-requiring initial hospitalization were asked to participate. Patients who accepted treatment were given HCQ for five days (loading dose of 400 mg q12 h the first day followed by200 mg q12 h). Control group included patients with contraindications for HCQ or who rejected treatment. Study outcomes were negative conversion and viral dynamics of SARS-CoV-2, symptoms duration and disease progression. Result Overall, 142 patients were enrolled: 87 in treatment group and 55 in control group. The median age was 37 years and 75% were female, with few comorbidities. There were no significant differences in time to negative conversion of PCR between both groups. The only significant difference in the probability of negative conversion of PCR was observed at day 21 (18.7%, 95%CI 2.0–35.4). The decrease of SARS-CoV-2 viral load during follow-up was similar in both groups. A non significant reduction in duration of some symptoms in HCQ group was observed. Two patients with HCQ and 4 without treatment developed pneumonia. No patients required admission to the Intensive Care Unit or died. About 50% of patients presented mild side effects of HCQ, mainly diarrhea. Conclusions Our study failed to show a substantial benefit of HCQ in viral dynamics and in resolution of clinical symptoms in health care workers with mild COVID-19.
Published: 2022
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34. Early outcomes in adults hospitalized with severe SARS-CoV-2 infection receiving tocilizumab

Author: Nuria Fernández-Hidalgo, Arnau Monforte-Pallarés, Fernando Salvador, Simeón Eremiev-Eremiev, Marta Miarons, Benito Almirante, Santiago Pérez-Hoyos, Júlia Sellarès-Nadal, Adrián Sánchez-Montalvá, Xavier Durà, Salvador Augustin, Júlia Sampol, Juan Espinosa-Pereiro, Alfredo Guillén-Del-Castillo, Abiu Sempere-González, Andrés Antón, and Pau Bosch-Nicolau
Subjects: Adult, Male, ARDS, medicine.medical_specialty, COVID19, Viral pneumonia, Lung injury, Antibodies, Monoclonal, Humanized, law.invention, Cohort Studies, chemistry.chemical_compound, Tocilizumab, law, Internal medicine, Inmunomodulación, Clinical endpoint, Humans, Medicine, Respiratory Distress Syndrome, SARS-CoV-2, business.industry, Hazard ratio, COVID-19, General Medicine, Middle Aged, medicine.disease, Intensive care unit, IL6, COVID-19 Drug Treatment, Neumonía viral, Treatment Outcome, chemistry, Respiratory failure, Original Article, Female, Immonomodulation, Respiratory Insufficiency, business, Cohort study
Abstract: Modulation of the immune system to prevent lung injury is being widely used against the new coronavirus disease (COVID-19). The primary endpoint was mortality at 7 days after tocilizumab administration. Secondary endpoints were admission to the intensive care unit, development of ARDS and respiratory insufficiency among others.We report the preliminary results from the Vall d'Hebron cohort study at Vall d'Hebron University Hospital, in Barcelona (Spain), including all consecutive patients who had a confirmed SARS-CoV-2 infection and who were treated with tocilizumab until March 25th.82 patients with COVID-19 received at least one dose of tocilizumab. The mean (± SD) age was 59.1 (19.8) years, 63% were male, 22% were of non-Spanish ancestry, and the median (IQR) age-adjusted Charlson index at baseline was 3 (1-4) points. Respiratory failure and ARDS developed in 62 (75.6%) and 45 (54.9%) patients, respectively. Median time from symptom onset to ARDS development was 8 (5-11) days. Mortality at 7 days was 26.8%. Hazard ratio for mortality was 3.3; 95% CI, 1.3-8.5 (age-adjusted hazard ratio for mortality 2.1; 95% CI, 0.8-5.8) if tocilizumab was administered after the onset of ARDS.Early administration of tocilizumab in patients needing oxygen supplementation may be critical to patient recovery. Our preliminary data could inform bedside decisions until more data regarding the precise timing in of initiation of the treatment with tocilizumab.Los tratamientos inmunomoduladores para la prevención del daño pulmonar están siendo ampliamente estudiados contra la COVID-19. El objetivo primario es evaluar la mortalidad a los 7 días después de la administración de tocilizumab. El objetivo secundario es el ingreso en UCI, el desarrollo de distrés respiratorio agudo e insuficiencia respiratoria aguda entre otros.Informamos sobre los resultados preliminares de la cohorte del Hospital Universitario Vall d’Hebron en Barcelona (España), que incluye todos los pacientes consecutivos con infección confirmada por SARS-CoV-2 y que recibieron tratamiento con tocilizumab hasta el 25 de marzo 2020.Ochenta y dos pacientes con COVID-19 recibieron al menos una dosis de tocilizumab. La edad media (±DE) fue de 59,1 (±19,8) años, el 63% eran hombres, 22% correspondía a paciente nacidos fuera de España, y la mediana (RIC) del índice de Charlson ajustado por edad en el momento basal fue de 3 (1-4) puntos. Sesenta y dos pacientes (75,6%) y 45 pacientes (54,9%) desarrollaron insuficiencia respiratoria y distrés respiratorio agudo respectivamente. La mediana de tiempo desde el inicio de los síntomas hasta el desarrollo de ditrés fue de 8 días (5-11). La mortalidad a los 7 días fue del 26,8% La hazard ratio de mortalidad fue del 3,3; IC 95% 1,3-8,5 (la hazard ratio de mortalidad ajustada por edad fue de 2,1; IC 95% 0,8-5,8) si el tocilizumab se administraba después del inicio del distrés respiratorio.La administración precoz de tocilizumab en pacientes con suplementos de oxígeno podría ser crítica para la recuperación de los pacientes. Nuestros datos podrían ayudar a tomar decisiones clínicas hasta que se disponga de más información sobre el momento adecuado para iniciar el tratamiento con tocilizumab.
Published: 2022
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35. Comparison of surgical approaches to radical prostatectomy in our series beyond oncological and functional outcomes

Author: Á, García Cortés, J, Colombás Vives, C, Gutiérrez Castañé, S, Chiva San Román, P, Doménech López, F J, Ancizu Marckert, M, Hevia Suárez, I, Merino Narro, J M, Velis Campillo, F, Guillén Grima, M, Torres Roca, F, Diez-Caballero Y Alonso, D, Rosell Costa, F, Villacampa Aubá, F R, de Fata Chillón, G, Andrés Boville, G, Barbas Bernardos, B, Miñana López, J E, Robles García, and J I, Pascual Piédrola
Subjects: Male, Prostatectomy, Treatment Outcome, Erectile Dysfunction, Robotic Surgical Procedures, Quality of Life, Humans, General Medicine
Abstract: To evaluate the outcomes of robot-assisted radical prostatectomy (RARP) compared to those of open (ORP) and laparoscopic (LRP) surgery. The interest lies fundamentally in the quality-of-life (QoL) evaluation, postoperative recovery, and personal satisfaction of patients with the intervention (PS) beyond oncological and functional outcomes.Six hundred eighty-five RPs were performed in our center between 2011-2018 (17,8% ORP, 22,2% LRP and 60% RARP). Patients were prospectively assessed through follow-up until April 2020 and a multiple questionnaire at 12-months post-RP that included ICIQ-SF, SHIM, IPSS, IQL and questions about pain, postoperative recovery and PS. Also baseline and postoperative patient- and treatment-related data were collected, and binomial logistic regressions were performed for the 1 vs.1 comparisons (ORP vs. RARP and LRP vs. RARP).RARP patients have overall fewer comorbidities, less tumor aggressiveness, more operative time requirements and more positive surgical margins than ORP and LRP patients. Nevertheless, RARP outperforms ORP in: hospital stay (days) (OR 0,86; 95% CI: 0,80-0,94), hemoglobin loss (OR 0,38; 95% CI: 0,30-0,47), transfusion rate (OR 0,18; 95% CI: 0,09-0,34), early complications (p = 0,001), IQL (OR 0,82; 95% CI: 0,69-0,98), erectile function (OR 0,41; 95% CI: 0,21-0,79), pain control (OR 0,82; 95% CI: 0,75-0,89), postoperative recovery (p 0,001) and choice of a different approach (OR 5,55; 95% CI: 3,14-9,80). RARP is superior to LRP in: urinary continence (OR 0,55; 95% CI: 0,37-0,82), IPSS (OR 0,96; 95% CI: 0,93-0,98), IQL (OR 0,76; 95% CI: 0,66-0,88), erectile function (OR 0,52; 95% CI: 0,29-0,93), postoperative recovery (p = 0,02 and 0,004), PS (p = 0,005; 0,002; and 0,03) and choice of a different approach (OR 7,79; 95% CI: 4,63-13,13).The findings of our study globally endorse a positive effectiveness of RARP over ORP and/or LRP, both on functional issues, postoperative recovery, QoL and PS. Oncologic results should still be improved.
Published: 2022
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36. Monitoring SARS-CoV-2 in the Wastewater and Rivers of Tapachula, a Migratory Hub in Southern Mexico

Author: Eugenia Zarza, Elia Diego-García, Luz Verónica García, Ricardo Castro, Gamaliel Mejía, David Herrera, Raúl Cuevas, Ángeles Palomeque, Pavel Iša, and Karina Guillén
Subjects: Sewage, SARS-CoV-2, Epidemiology, Health, Toxicology and Mutagenesis, COVID-19, Water, Wastewater, Rivers, Virology, Humans, RNA, Viral, Mexico, Pandemics, Food Science
Abstract: The COVID-19 pandemic has been monitored by applying different strategies, including SARS-CoV-2 detection with clinical testing or through wastewater-based epidemiology (WBE). We used the latter approach to follow SARS-CoV-2 dispersion in Tapachula city, located in Mexico's tropical southern border region. Tapachula is a dynamic entry point for people seeking asylum in Mexico or traveling to the USA. Clinical testing facilities for SARS-CoV-2 monitoring are limited in the city. A total of eighty water samples were collected from urban and suburban rivers and sewage and a wastewater treatment plant over 4 months in Tapachula. We concentrated viral particles with a PEG-8000-based method, performed RNA extraction, and detected SARS-CoV-2 particles through RT-PCR. We considered the pepper mild mottle virus as a fecal water pollution biomarker and analytical control. SARS-CoV-2 viral loads (N1 and N2 markers) were quantified and correlated with official regional statistics of COVID-19 bed occupancy and confirmed cases (r 91%). Our results concluded that WBE proved a valuable tool for tracing and tracking the COVID-19 pandemic in tropical countries with similar water temperatures (21-29 °C). Monitoring SARS-CoV-2 through urban and suburban river water sampling would be helpful in places lacking a wastewater treatment plant or water bodies with sewage discharges.
Published: 2022
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37. Impact of interstitial lung disease on the survival of systemic sclerosis with pulmonary arterial hypertension

Author: Guillén-Del-Castillo, Alfredo, Meseguer, Manuel López, Fonollosa-Pla, Vicent, Sáez Giménez, Berta, Colunga-Argüelles, Dolores, Revilla-López, Eva, Rubio-Rivas, Manuel, Ropero, Maria José Cristo, Argibay, Ana, Barberá, Joan Albert, Pla Salas, Xavier, Martínez Meñaca, Amaya, Madroñero Vuelta, Ana Belén, Lara Padrón, Antonio, Sáez Comet, Luis, Domingo Morera, Juan Antonio, González-Echávarri, Cristina, Mombiela, Teresa, Ortego-Centeno, Norberto, Marín González, Manuela, Tolosa-Vilella, Carles, Blanco, Isabel, Escribano Subías, Pilar, Simeón-Aznar, Carmen Pilar, Aurtenetxe Pérez, Águeda, Barrios Garrido-Lestache, Elvira, Bedate Díaz, Pedro, Cifrián, José Manuel, Cristo Ropero, Maria Jose, Dos Subirá, Laura, Elías Hernández, Teresa, García Hernández, Francisco José, Carbonell, Juan Gil, Segovia, Ariadna González, Valverde, Tamara Hermida, Baldomero, Idaira Fámara Hernández, Hernández-González, Ignacio, Huertas, Julia Herrero, Palomares, Luis Jara, Arjona, Josefa Jiménez, Padrón, Antonio Lara, Lázaro-Salvador, María, López-Ramón, Marta, López-Reyes, Raquel, González, Manuela Marín, Meñaca, Amaya Martínez, Etxaniz, Francisco Javier Mazo, Velasco, Virginia Naranjo, Candelera, Remedios Otero, González, Isabel Otero, Lozano, Beatriz Rodríguez, Nieto, María Jesús Rodríguez, Soriano, Joaquín Rueda, Giménez, Berta Sáez, Safont, Belén, Llinas, Ernest Sala, Sebastián, Laura, Cubero, Javier Segovia, Domenech, María Teresa Subirana, Masmiquel, Maria Baldà, Moraga, Eduardo Callejas, Chamorro, Antonio-J., Freire, Mayka, Guillén-del-Castillo, Alfredo, Marín, Maria Teresa Herranz, Vuelta, Ana Belén Madroñero, Ballvé, Adela Marín, Fernández, Melany Pestaña, Salas, Xavier Pla, Pintó, Ignasi Rodríguez, Comet, Luis Sáez, Cervelló, Gonzalo Salvador, Parra, José Antonio Todolí, Trapiella, Luis, Hitos, José Antonio Vargas, Marín, Adela (REHAP Consortium), Institut Català de la Salut, [Guillén-Del-Castillo A, Fonollosa-Pla V, Simeón-Aznar CP] Unitat de Malalties Autoimmunes, Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Meseguer ML, Revilla-López E] Servei de Pneumologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Sáez Giménez B] Servei de Pneumologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Departament de Fisiologia, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Colunga-Argüelles D] Department of Internal Medicine, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain, and Vall d'Hebron Barcelona Hospital Campus
Subjects: Respiratory Tract Diseases::Lung Diseases::Lung Diseases, Interstitial [DISEASES], enfermedades respiratorias::enfermedades pulmonares::hipertensión pulmonar [ENFERMEDADES], Hypertension, Pulmonary, Impacte, enfermedades de la piel y tejido conjuntivo::enfermedades del tejido conjuntivo::esclerodermia sistémica [ENFERMEDADES], Pulmonary hypertension, Respiratory Tract Diseases::Lung Diseases::Hypertension, Pulmonary [DISEASES], Anàlisi de supervivència (Biometria), Pulmonary diseases, polycyclic compounds, Survival analysis (Biometry), Humans, Familial Primary Pulmonary Hypertension, skin and connective tissue diseases, Hipertensió pulmonar, Pulmonary Arterial Hypertension, Respiratory tract diseases, Hipotensió arterial, Multidisciplinary, Scleroderma, Systemic, integumentary system, respiratory system, respiratory tract diseases, Malalties dels pulmons, Pulmons - Malalties, Esclerosi sistemàtica progressiva - Tractament, Impact, Scleroderma (Disease), enfermedades respiratorias::enfermedades pulmonares::enfermedades pulmonares intersticiales [ENFERMEDADES], Skin and Connective Tissue Diseases::Connective Tissue Diseases::Scleroderma, Systemic [DISEASES], Càncer de pulmó, Systemic sclerosis, Lung cancer, Esclerodèrmia, Lung Diseases, Interstitial
Abstract: To assess severity markers and outcomes of patients with systemic sclerosis (SSc) with or without pulmonary arterial hypertension (PAH-SSc/non-PAH-SSc), and the impact of interstitial lung disease (ILD) on PAH-SSc. Non-PAH-SSc patients from the Spanish SSc registry and PAH-SSc patients from the Spanish PAH registry were included. A total of 364 PAH-SSc and 1589 non-PAH-SSc patients were included. PAH-SSc patients had worse NYHA-functional class (NYHA-FC), worse forced vital capacity (FVC) (81.2 ± 20.6% vs 93.6 ± 20.6%, P
Published: 2022

38. Prevalence of Protein-Energy Wasting in Dialysis Patients Using a Practical Online Tool to Compare with Other Nutritional Scores: Results of the Nutrendial Study

Author: Marta Arias-Guillén, Silvia Collado, Elisabeth Coll, Jordi Carreras, Loreley Betancourt, Bárbara Romano, Marisol Fernández, Verónica Duarte, Julia Garro, Jordi Soler, Juan Carlos González, Jordi Calabia, [Arias-Guillén M] Renal Transplantation and Nephrology Department, Hospital Clinic de Barcelona, Barcelona, Spain. [Collado S] Nephrology Department, Hospital del Mar-Parc de Salut Mar, Barcelona, Spain. [Coll E] Nephrology Department, Fundació Puigvert, Barcelona, Spain. [Carreras J] Centre Diaverum Baix Llobregat, L'Hospitalet del Llobregat, Spain. [Betancourt L] Nephrology Department, Corporació Sanitaria Parc Taulí, Sabadell, Spain. [Romano B] Nutrition and Dietetic Unit, Hospital Clinic de Barcelona, Barcelona, Spain. [Duarte V] Departament de Nefrologia, Hospital de Terrassa, Consorci Sanitari de Terrassa, Terrassa, Spain, and Consorci Sanitari de Terrassa
Subjects: Protein-energy wasting, Cachexia, Desnutrició, Nutritional Status, Protein-Energy Malnutrition, Renal Dialysis, técnicas de investigación::técnicas de química analítica::diálisis [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], enfermedades nutricionales y metabólicas::trastornos nutricionales::desnutrición [ENFERMEDADES], Albumins, Prevalence, Humans, Subjective global assessment, protein-energy wasting, online tool, dialysis, nutritional assessment, malnutrition inflammation score, subjective global assessment, Nutritional and Metabolic Diseases::Nutrition Disorders::Malnutrition [DISEASES], Inflammation, Nutrition and Dietetics, Diàlisi, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Inflammation [DISEASES], Nutritional assessment, afecciones patológicas, signos y síntomas::procesos patológicos::inflamación [ENFERMEDADES], Inflamació, Online tool, Cross-Sectional Studies, Kidney Failure, Chronic, Dialysis, Investigative Techniques::Chemistry Techniques, Analytical::Dialysis [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Food Science, Malnutrition inflammation score
Abstract: Diàlisi; Puntuació d'inflamació de desnutrició; Valoració nutricional Diálisis; Puntuación de inflamación de desnutrición; Valoración nutricional Dialysis; Malnutrition inflammation score; Nutritional assessment This cross-sectional study aims to explore the prevalence of protein-energy wasting (PEW) in dialysis patients in Catalonia, Spain, using a new and practical online tool which enables rapid calculation and comparison with other nutritional scores. Methods: A web tool (Nutrendial) was created to introduce different variables and automatically calculate PEW, Malnutrition inflammation Score (MIS) and Subjective Global Assessment (SGA) in 1389 patients (88% in haemodialysis (HD)), 12% in peritoneal dialysis (PD) from different regions of Catalonia. Results: A prevalence of 23.3% (26% HD, 10.2% PD) of PEW was found, with a mean MIS score of 6 and SGA score of C in 7% of the patients. ROC analysis showed MIS as the best nutritional score to diagnose PEW (AUC 0.85). Albumin delivered lower diagnostic precision (AUC 0.77) and sensitivity (66%). A cut off point of 7 (86% sensitivity and 75% specificity) for MIS and 3.7 mg/dL for albumin were found to predict the appearance of PEW in this population. SGA B or C showed an 87% sensitivity and 55% specificity to diagnose PEW. Very low nutritional intervention (14%) was recorded with this tool in patients with PEW. Conclusions: This new online tool facilitated the calculation of PEW, enabling different professionals-including nephrologists, dieticians and nurses-to efficiently obtain insights into the nutritional status of the Catalonian dialysis population and implement the required nutritional interventions. MIS is the score with more sensitivity to diagnose PEW.
Published: 2022

39. Revolution in modern teaching in dentistry since the appearance of the COVID-19 pandemic: A review

Author: Sergio Delgado Castillo, Sayuri Miguel Soto, Katherine Atoche-Socola, and Luis Ernesto Arriola-Guillén
Subjects: SARS-CoV-2, Dentistry, COVID-19, Humans, General Medicine, Students, Pandemics, General Dentistry
Abstract: Dentistry schools have attempted to overcome the challenges imposed by the coronavirus disease 2019 (COVID-19) pandemic through teaching via the Internet with the use of virtual platforms, designed to simulate face-to-face interaction and counteract the social isolation affecting the integral development of students. This review searched the main health databases, including MEDLINE via PubMed, Scopus and LILACS, and selected 31 articles to proceed with the research. During the pandemic, platforms such as Facebook, Instagram, YouTube, Zoom, Google Meet, and other similar tools allowed teachers to develop dynamic slides and dental models to simulate procedures, which played an important role in the course of mainly theoretical classes. In addition, applications such as WhatsApp allowed the rapid acquisition and sharing of useful information on a specific topic. While virtual resources facilitate the learning process through generating interest as well as providing accurate, necessary, valuable, and easily accessible information, which is constantly updated, the disadvantages of remote learning include the lack of instruments, infrastructure and materials, apart from supervision, to promote personal development and progressive evolution to directly treat patients. Another issue with regard to virtual learning is whether within a short period of time students can achieve a comparable level of practical skills as in the case of the conventional learning. In conclusion, the current pandemic has changed not only the use of technology in education, but also educational strategies for the future.
Published: 2022
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40. The Effect of Enalapril, Losartan, or Not Antihypertensive on the Oxidative Status in Renal Transplant Recipients

Author: Jorge Andrade-Sierra, Mónica Lizbeth Morales-Guillén, Andrés García-Sánchez, Elodia Nataly Díaz-de la Cruz, José Ignacio Cerrillos-Gutiérrez, Enrique Rojas-Campos, and Alejandra Guillermina Miranda-Díaz
Subjects: Oxidative Stress, Aging, Article Subject, Enalapril, Humans, Cell Biology, General Medicine, Kidney, Kidney Transplantation, Biochemistry, Antihypertensive Agents, Losartan
Abstract: The clinical and biochemical improvement observed in kidney transplant (RT) recipients is remarkable. The correct functioning of the allograft depends on various factors such as the donor’s age, the alloimmune response, the ischemia-reperfusion injury, arterial hypertension, and the interstitial fibrosis of the allograft, among others. Antihypertensive drugs are necessary for arterial hypertension patients to avoid or reduce the probability of affecting graft function in RT recipients. Oxidative stress (OS) is another complex pathophysiological process with the ability to alter posttransplant kidney function. The study’s objective was to determine the effect of the administration of Enalapril, Losartan, or not antihypertensive medication on the oxidative state in RT recipients at the beginning of the study and one year of follow-up. All patients included in the study found significant overexpression of the oxidative damage marker to DNA and the antioxidant enzymes superoxide dismutase (SOD) and glutathione peroxidase (GPx). In contrast, it was found that the determination of the total antioxidant capacity decreased significantly in the final determination at one year of follow-up in all the patients who ingested Enalapril and Losartan. We found dysregulation of the oxidative state characterized mainly by oxidative damage to DNA and a significant increase in antioxidant enzymes, which could suggest a compensatory effect against the imbalance of the oxidative state.
Published: 2022
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41. A descriptive study of transthyretin amyloidosis in a tertiary hospital without a referral unit

Author: A. Gracia Gutiérrez, E. Bueno Juana, J. Melero Polo, P. Revilla Martí, A. Andrés Gracia, A. Roteta Unceta-Barrenechea, C. Lahuerta Pueyo, S. Menao Guillén, and M.Á. Aibar Arregui
Subjects: Amyloid Neuropathies, Familial, medicine.medical_specialty, biology, business.industry, Amyloidosis, General Medicine, Disease, medicine.disease, Tertiary Care Centers, Transthyretin, Cardiac amyloidosis, Heart failure, Internal medicine, biology.protein, Humans, Prealbumin, Medicine, Differential diagnosis, business, Referral and Consultation, Polyneuropathy, Rare disease
Abstract: Background and objective Transthyretin amyloidosis (ATTR) is a rare disease that is part of systemic amyloidosis and is life-threatening. It can affect all organs and systems, the most frequent being neurological and cardiac involvement. This study aims to detect possible ATTR cases and carry out a descriptive study of them. Material and methods Descriptive single-centre study carried out in a tertiary hospital, which included patients with suspected ATTR between September 2016 and January 2020. Results A total of 190 suspected ATTR patients were detected. The study includes 100 of these patients, as well as 10 relatives of patients in whom ATTR was detected in its genetic variant (ATTRv). In total, ATTRv was detected in 7 individuals (3 with a presymptomatic mutation of the disease), 16 patients with age-related ATTR and 31 individuals with unknown cardiac amyloidosis with the tests performed, which confirms the presence of this disease in non-endemic areas. Conclusions ATTR is a disease that must be taken into account in the differential diagnosis of patients with heart failure with preserved LVEF, especially if associated with neurological symptoms.
Published: 2022
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42. Talus mobilization-based manual therapy is effective for restoring range of motion and enhancing balance in older adults with limited ankle mobility: A randomized controlled trial

Author: David Hernández-Guillén, Sergio Roig-Casasús, Catalina Tolsada-Velasco, Carmen García-Gomáriz, and José-María Blasco
Subjects: Rehabilitation, Biophysics, Humans, Orthopedics and Sports Medicine, Ankle, Range of Motion, Articular, Musculoskeletal Manipulations, Postural Balance, Ankle Joint, Aged, Talus
Abstract: The ankle plays a key role in balance, but ankle range of motion decreases with ageing.To establish whether a talus mobilization-based manual therapy intervention may be effective for increasing range of motion and balance in older adults with limited ankle mobility due to the ageing process.Randomized clinical trial in which 42 community-dwelling older adults with limited ankle mobility were allocated to an experimental or a control group. The experimental intervention consisted of six sessions of anteroposterior talus mobilization, whereas the control intervention was a sham treatment. Baseline change in weight and non-weight bearing ankle range of motion (ROM), balance outcome in terms of the Timed up and go (mobility and dynamic balance), Single-leg stand (static balance and stability), Functional reach (margins of stability) and Romberg tests (static balance) were assessed. Analysis of variance based on a mixed-linear model of repeated measures looked for group interactions.Forty participants completed the study. Participants who received six sessions of manual therapy showed greater improvements in the Timed up and go, Functional reach and Single-leg stand tests than participants who received a sham intervention (p 0.001). Both groups presented similar performance in post-treatment static balance measures (p 0.05).An anteroposterior talus mobilization-based manual therapy intervention is effective for increasing ankle ROM, with a positive effect on dynamic balance, mobility and stability in community-dwelling older adults with limited ankle mobility.
Published: 2022
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43. Prevalence of psychological symptoms and associated risk factors in a Spanish sample of HIV-positive youth compared to uninfected peers

Author: José Tomás Ramos Amador, Manuela Martín-Bejarano García, Carlos Velo Higueras, Beatriz Ruiz Sáez, María Luisa Navarro Gómez, Sara Guillén Martín, Isabel Cuéllar-Flores, Cristina García-Navarro, María Isabel González-Tomé, Sara Domínguez-Rodríguez, and en representación del proyecto NeuroCoRISpe integrado en el CoRISpe
Subjects: Univariate analysis, Adolescent, business.industry, Univariate, Human immunodeficiency virus (HIV), Social environment, HIV Infections, Anxiety, medicine.disease_cause, 03 medical and health sciences, Cross-Sectional Studies, 0302 clinical medicine, Risk Factors, 030225 pediatrics, Management of Technology and Innovation, Prevalence, Humans, Medicine, medicine.symptom, business, Clinical risk factor, Psychosocial, Depression (differential diagnoses), Clinical psychology
Abstract: Introduction The aim of the study was twofold: a) to determine the prevalence of symptoms of depression and anxiety and sleep disturbances in young patients with vertically-transmitted HIV infection compared to uninfected peers, and b) to identify sociodemographic, psychosocial and medication-related variables and other clinical risk and protective factors related to psychological symptoms. Methods We conducted a cross-sectional study in two groups with independent measures (36 youth with vertically transmitted HIV infection and 39 HIV-negative peers). We used 3 standardised assessment tools and a sociodemographic/psychosocial questionnaire (STAI, BDI, PSQI and adapted sociodemographic test). We performed univariate and multivariable analyses. Results The univariate analysis did not find significant differences between groups either in psychosocial factors or in the clinical scores. The multivariable analysis found that the presence of psychological symptoms was strongly associated with sociodemographic factors and past events. Conclusions Psychosocial factors and the social environment seemed to correlate more strongly to psychological symptoms than HIV status and to explain better the current psychological state of individuals.
Published: 2022
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44. Circulating MicroRNA Profiles as Potential Biomarkers for Differentiated Thyroid Cancer Recurrence

Author: Jelena Jankovic Miljus, María Augusta Guillén-Sacoto, Jennifer Makiadi-Alvarado, León Wert-Lamas, Julia Ramirez-Moya, Mercedes Robledo, Pilar Santisteban, and Garcilaso Riesco-Eizaguirre
Subjects: Serum, microRNA, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Thyrotropin, Adenocarcinoma, Thyroglobulin, Biochemistry, Thyroid cancer, Recombinant Proteins, MicroRNAs, Endocrinology, Recurrence, NGS, Humans, Novel microRNA, Circulating MicroRNA, Longitudinal Studies, Thyroid Neoplasms, Thyrotropin Alfa, Biomarkers
Abstract: Context Circulating microRNAs (miRNAs) are emerging biomarkers of thyroid cancer. Objective This study sought to identify the profile of circulating miRNAs and its response to human recombinant TSH (rhTSH) in thyroid cancer patients with recurrent/persistent disease. Methods We obtained serum samples from 30 patients with differentiated thyroid cancer, 14 with recurrent/persistent disease and 16 with complete remission. We used next-generation sequencing to define the miRnomes along with a comprehensive quantitative PCR (qPCR) validation using 2 different platforms. We made a transversal study by comparing serum miRNA profiles of patients with or without recurrent/persistent disease and a longitudinal study looking at differences before and after rhTSH stimulation. Selected miRNAs were then studied in human thyroid cancer cell lines TPC-1, FTC-133, and OCUT-2 in response to TSH stimulation. Results We could not demonstrate any consistent differences in serum profiles of known miRNAs between patients with and without recurrent/persistent disease or before and after rhTSH stimulation. However, our sequencing data revealed 2 putative novel miRNAs that rise with rhTSH stimulation in the serums of patients with recurrent/persistent disease. We further confirmed by qPCR the upregulation of these putative miRNAs both in serums and in TSH-stimulated cells. We also show miRNAs that are good candidates for housekeeping genes in the serum of patients independently of the levels of TSH. Conclusions The present study does not provide evidence that known miRNAs can be used as circulating markers for recurrence of thyroid cancer. However, we suggest that novel miRNA molecules may be related to thyroid cancer pathogenesis.
Published: 2022
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45. Agreement analysis of three mandibular third molar retention classifications

Author: Robert Stick Rivera-Herrera, Vicente Esparza-Villalpando, Josué Roberto Bermeo-Escalona, Ricardo Martínez-Rider, and Amaury Pozos-Guillén
Subjects: Observer Variation, Tooth, Impacted, Humans, Internship and Residency, Molar, Third, Mandible, General Medicine, Oral and Maxillofacial Surgeons, Mexico
Abstract: PellGregory and Winter classifications are basic in third molar categorization; Sánchez-Torres classification is used in Mexico, but it has not been previously evaluated.To assess the degree of agreement in the radiographic evaluation of impacted mandibular third molar with the use of three classifications: PellGregory, Winter and Sánchez-Torres.Observational, descriptive, inter-observer degree of agreement study that included 10 oral and maxillofacial surgeons and 10 training residents, who recorded the radiographic categorization of third mandibular molars (left and right) according to Pell and Gregory, Sánchez-Torres and Winter classifications. Inter-observer degree of agreement was assessed with Fleiss' kappa test.Pell and Gregory classification obtained the lowest degree of agreement (kappa = 0.05 and 0.185), followed by Sánchez-Torres classification (kappa = 0.125 and 0.326); Winter had the best agreement, with kappa = 0.28 and 0.636 for oral and maxillofacial surgeons and training residents, respectively.The Winter classification showed an acceptable (moderate) degree of agreement to classify mandibular third molars by training residents.Las clasificaciones de Pell y Gregory y de Winter son básicas en la categorización de terceros molares; la clasificación de Sánchez Torres es usada en México, pero no había sido evaluada previamente.Evaluar el grado de acuerdo en la valoración radiográfica de terceros molares mandibulares impactados, con el empleo de tres clasificaciones: Pell y Gregory, Winter y Sánchez Torres.Estudio observacional, descriptivo, de concordancia interobservador, que incluyó a 10 cirujanos orales y maxilofaciales y 10 residentes en formación, quienes registraron la categorización radiográfica de terceros molares mandibulares (izquierdos y derechos) de acuerdo con las clasificaciones de Pell y Gregory, Sánchez Torres y Winter. Se evaluó el grado de acuerdo entre observadores mediante la prueba de kappa de Fleiss.La clasificación de Pell y Gregory obtuvo el menor grado de acuerdo (kappa = 0.05 y 0.185), seguida de la clasificación de Sánchez Torres (kappa = 0.125 y 0.326); el mejor valor lo obtuvo la clasificación de Winter, con kappa = 0.28 y 0.636 para cirujanos orales y maxilofaciales y residentes en formación, respectivamente.La clasificación de Winter mostró un grado de acuerdo aceptable (moderado) para categorizar terceros molares mandibulares en los residentes en formación.
Published: 2023
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46. Differences in executive abilities rather than associative processes contribute to memory development

Author: Gabriele Janzen, Nadia Klijn, Nils C. J. Müller, Martin Dresler, Nils Kohn, Helene Emmen, Mariët van Buuren, Ruud Berkers, Guillén Fernández, Clinical Developmental Psychology, IBBA, and LEARN! - Educational neuroscience, learning and development
Subjects: Adult, Male, Adolescent, 230 Affective Neuroscience, Human Development, Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13], Prefrontal Cortex, Learning and Plasticity, Learning abilities, Angular gyrus, Executive Function, Young Adult, Memory development, All institutes and research themes of the Radboud University Medical Center, Memory, 130 000 Cognitive Neurology & Memory, Humans, Radiology, Nuclear Medicine and imaging, Child, Association (psychology), Prefrontal cortex, Research Articles, Associative property, Brain Mapping, Radiological and Ultrasound Technology, fMRI, Association Learning, Contrast (statistics), Cognition, Magnetic Resonance Imaging, Neurology, executive abilities, Female, Neurology (clinical), Anatomy, Psychology, medial prefrontal cortex, memory development, Research Article, Cognitive psychology
Abstract: Children's learning capabilities change while growing up. One framework that describes the cognitive and neural development of children's growing learning abilities is the two‐component model. It distinguishes processes that integrate separate features into a coherent memory representation (associative component) and executive abilities, such as elaboration, evaluation, and monitoring, that support memory processing (strategic component). In an fMRI study using an object‐location association paradigm, we investigated how the two components influence memory performance across development. We tested children (10–12 years, n = 31), late adolescents (18 years, n = 29), and adults (25+ years, n = 30). For studying the associative component, we also probed how the utilisation of prior knowledge (schemas) facilitates memory across age groups. Children had overall lower retrieval performance, while adolescents and adults did not differ from each other. All groups benefitted from schemas, but this effect did not differ between groups. Performance differences between groups were associated with deactivation of the dorsal medial prefrontal cortex (dmPFC), which in turn was linked to executive functioning. These patterns were stronger in adolescents and adults and seemed absent in children. Thus, the children's executive system, the strategic component, is not as mature and thus cannot facilitate memory performance in the same way as in adolescents/adults. In contrast, we did not find age‐related differences in the associative component; with activity in the angular gyrus predicting memory performance systematically across groups. Overall, our results suggest that differences of executive rather than associative abilities explain memory differences between children, adolescents, and adults., In an fMRI study, we investigated whether memory differences between children, adolescents, and adults stem from developmental changes in executive abilities, the strategic component, or rather from differences in mechanisms related to binding different features together into a memory representation, the associative component. Overall, our results suggest that differences of executive rather than associative abilities explain memory differences between children, adolescents and adults.
Published: 2021
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47. Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in <scp> PACS2 </scp>

Author: Irene Valenzuela, Elena Guillén Benítez, Angel Sanchez‐Montanez, Javier Limeres, Fermina López‐Grondona, Ivon Cuscó, and Eduardo F. Tizzano
Subjects: Cardiomyopathy, Dilated, Male, Cerebellar Diseases, Intellectual Disability, Vein of Galen Malformations, Vesicular Transport Proteins, Genetics, Humans, Epilepsy, Generalized, Aneurysm, Genetics (clinical)
Abstract: The PACS2 gene encodes a multifunctional sorting protein involved in nuclear gene expression and pathway traffic regulation that has been shown to be highly expressed during human prenatal brain development. Pathogenic variants in PACS2 have been recently shown to be implicated in a phenotype with global developmental delay/intellectual disability, seizures, autistic traits, facial dysmorphic features, and cerebellar dysgenesis. Here, we report a 25-year-old male with intellectual disability, epileptic encephalopathy, cerebellar dysgenesis, facial dysmorphism, and a previously reported pathogenic variant in PACS2. To our knowledge, this is the oldest patient reported who, in addition to the known phenotype described in PACS2 patients, presented with a vein of Galen malformation and dilated cardiomyopathy as previously unreported findings.
Published: 2021
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48. Ultrasound criteria (EU-TIRADS) to identify thyroid nodule malignancy risk in adolescents. Correlation with cyto-histological findings

Author: Diego, Yeste Fernández, Elizabeth, Vega Amenabar, Ana, Coma Muñoz, Larry, Arciniegas Vallejo, María, Clemente León, Marina, Planes-Conangla, Carmela, Iglesias Felip, Constantino, Sábado Álvarez, Gabriela, Guillén Burrieza, and Ariadna, Campos-Martorell
Subjects: Adult, Adolescent, Biopsy, Fine-Needle, Humans, Female, Thyroid Neoplasms, Thyroid Nodule, Child, Retrospective Studies, Ultrasonography
Abstract: Thyroid nodule (TN) harbouring a thyroid carcinoma are more common in paediatric than adult patients. In paediatric population, the evaluation of a TN should require specific paediatric tools for its diagnostic and therapeutic management. High-resolution ultrasonography and cytological evaluation after fine-needle aspiration biopsy (FNAB) remain the cornerstones of evaluation of TN.To evaluate in paediatric TN for the first time the usefulness and precision of the ultrasound criteria defined by the "Thyroid Imaging Reporting and Data System (EU-TIRADS) 2017 in adults" to establish the ultrasound indication for the practice of FNAB and stratify the risk of malignancy.24 paediatric patients under age 18 years with thyroid nodules were attended in the last 15 years, 24 of them (31 nodules; age: 15.2 ± 2.2 years; 18 women) met the inclusion criteria: FNAB with Bethesda classification and ultrasound with EU-TIRADS score. EU-TIRADS score were evaluated retrospectively. Fourteen patients underwent surgery and the definitive histological diagnosis was obtained, this allowed the calculations of sensitivity, specificity and positive and negative predictive values of the EU-TIRADS and Bethesda classification. Data on the largest diameters of the nodules were collected.Of the overall 31 nodules, the distribution by EU-TIRADS (T) category was: T1 (3.2%), T2: 2 (6.4%), T3: 7 (22.6%), T4: 16 (51.6%) and T5: 5 (16.1%). All malignant nodules were included in EU-TIRADS category 4 or 5. By the other hand, 13 of the 25 benign nodules were also included in the EU-TIRADS 4 category, and one in the 5. The distribution by categories of Bethesda's classification (B): BI: 6 (19.4%), BII: 14 (45.2%), BIII: 5 (16.1%), BIV: 2 (6.5%), BV: 0 and BVI: 4 (12.9%). The pathological diagnosis of the 14 patients who underwent surgery was: 6 papillary carcinomas and 8 with benign lesions: 6 nodular hyperplasia and 2 follicular adenoma. The percentage of malignancy was 42%. The sensitivity of the EU-TIRADS classification to detect malignant nodules was 100%, the specificity was 25%, PPV 44% and NPV 100%. The sensitivity of the Bethesda classification to detect malignant nodules was 86%, the specificity was 75%, PPV 67% and NPV 90%. The analysis of the largest diameter of the nodules did not show statistically significant differences between benign and malignant lesions.EU-TIRADS for ultrasonographic criteria classification in combination with the clinical history is an adequate and reproducible method to estimate suspicion of malignancy of paediatric TN. It is also a reliable diagnostic tool to decide which nodules will be candidates for FNAB.
Published: 2021
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49. In-solution buffer-free digestion allows full-sequence coverage and complete characterization of post-translational modifications of the receptor-binding domain of SARS-CoV-2 in a single ESI–MS spectrum

Author: Gertrudis Rojas, Yury Valdés-Balbín, Dayana Pérez-Martínez, Vicente Verez-Bencomo, Sum Lai Lozada Chang, Isabel González, Ivan Andújar, Daniel G. Rivera, Enso Onill Torres, Luis Javier González, Gleysin Cabrera, Darielys Santana-Medero, Marika Vitikainen, Julio Palacio, Mark Emalfarb, Marta Ayala, Camila Canaán-Haden, Diamilé Roche, Lourdes Hernández, Vladimir Besada, Saloheimo Markku, Mónica Becquet, Glay Chinea, Eulogio Pimentel, Elías Nelson, Yassel Ramos, Luis Ariel Espinosa, Gerardo Guillén, Kathya Rashida de la Luz Hernández, Tamy Boggiano, Beatriz Pérez-Massón, Miladys Limonta, Alejandro Martín, and Ronen Tchelet
Subjects: Spectrometry, Mass, Electrospray Ionization, Stereochemistry, Dimer, Electrospray ionization, Peptide, Biochemistry, Analytical Chemistry, law.invention, RBD, chemistry.chemical_compound, Protein Domains, Modified cysteine, SDG 3 - Good Health and Well-being, law, Humans, Hydrophilic peptides, Buffer-free digestion, Amino Acid Sequence, Cysteine, Histidine, chemistry.chemical_classification, SARS-CoV-2, Protein primary structure, Peptide Fragments, Amino acid, Protein Subunits, chemistry, Spike Glycoprotein, Coronavirus, Recombinant DNA, Hydrophobic and Hydrophilic Interactions, Protein Processing, Post-Translational, Research Paper, Protein Binding
Abstract: Subunit vaccines based on the receptor-binding domain (RBD) of the spike protein of SARS-CoV-2 provide one of the most promising strategies to fight the COVID-19 pandemic. The detailed characterization of the protein primary structure by mass spectrometry (MS) is mandatory, as described in ICHQ6B guidelines. In this work, several recombinant RBD proteins produced in five expression systems were characterized using a non-conventional protocol known as in-solution buffer-free digestion (BFD). In a single ESI–MS spectrum, BFD allowed very high sequence coverage (≥ 99%) and the detection of highly hydrophilic regions, including very short and hydrophilic peptides (2–8 amino acids), and the His6-tagged C-terminal peptide carrying several post-translational modifications at Cys538 such as cysteinylation, homocysteinylation, glutathionylation, truncated glutathionylation, and cyanylation, among others. The analysis using the conventional digestion protocol allowed lower sequence coverage (80–90%) and did not detect peptides carrying most of the above-mentioned PTMs. The two C-terminal peptides of a dimer [RBD(319–541)-(His)6]2 linked by an intermolecular disulfide bond (Cys538-Cys538) with twelve histidine residues were only detected by BFD. This protocol allows the detection of the four disulfide bonds present in the native RBD, low-abundance scrambling variants, free cysteine residues, O-glycoforms, and incomplete processing of the N-terminal end, if present. Artifacts generated by the in-solution BFD protocol were also characterized. BFD can be easily implemented; it has been applied to the characterization of the active pharmaceutical ingredient of two RBD-based vaccines, and we foresee that it can be also helpful to the characterization of mutated RBDs. Graphical abstract: [Figure not available: see fulltext.]
Published: 2021
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50. Procalcitonin Serum Level Is a Specific Marker to Distinguish Septic Arthritis of the Knee in Patients With a Previous Diagnosis of Gout

Author: Mónica Vázquez-Díaz, Verónica García-García, and Carlos Antonio Guillén-Astete
Subjects: Arthritis, Infectious, medicine.medical_specialty, Gout, business.industry, MEDLINE, medicine.disease, Procalcitonin, Diagnosis, Differential, Text mining, Rheumatology, Internal medicine, medicine, Humans, Knee, Septic arthritis, In patient, business, Biomarkers
Published: 2021
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