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Cardiovascular disease (CVD) is a common comorbidity observed in patients with coronavirus disease 2019 (COVID-19), which is associated with increased severity and mortality. However, the effects of biological sex on CVD-associated mortality in patients with COVID-19 are poorly established, particularly among Hispanic/Latin Americans. We examined the association of preexisting CVD with COVID-19 mortality in hospitalized Latin American men and women. This multicenter study included Mexican patients hospitalized with a positive diagnosis of COVID-19. The main outcome was in-hospital mortality. Multivariable regression analyses were used to calculate the adjusted odds ratio with 95% confidence interval for mortality in women and men. Of 81,400 patients with a positive diagnosis for SARS-CoV-2 infection, 28,929 (35.54%) hospitalized patients were evaluated. Of these, 35.41% (10,243) were women. In-hospital death was higher in men than in women. In relation to CVD between the sexes, women had a higher incidence of CVD than men (4.69 vs. 3.93%

Several studies provide evidence that obesity is a significant risk factor for adverse outcomes in coronavirus disease 2019 (COVID-19). Altered renal function and disturbances in magnesium levels have been reported to play important pathophysiological roles in COVID-19. However, the relationship between obesity, renal function, circulating magnesium levels, and mortality in patients with COVID-19 remains unclear. In this retrospective cohort study, we characterized 390 hospitalized patients with COVID-19 that were categorized according to their body mass index (BMI). Patients were clinically characterized and biochemical parameters, renal function, and electrolyte markers measured upon admission. We found that in patients who died, BMI was associated with reduced estimated glomerular filtration rate (eGFR, Rho: −0.251, p = 0.001) and serum magnesium levels (Rho: −0.308, p < 0.0001). Multiple linear regression analyses showed that death was significantly associated with obesity (p = 0.001). The Cox model for obese patients showed that magnesium levels were associated with increased risk of death (hazard ratio: 0.213, 95% confidence interval: 0.077 to 0.586, p = 0.003). Thus, reduced renal function and lower magnesium levels were associated with increased mortality in obese COVID-19 patients. These results suggest that assessment of kidney function, including magnesium levels, may assist in developing effective treatment strategies to reduce mortality among obese COVID-19 patients.

Oxidative stress plays an important role in vascular complications observed in patients with obesity and Type 2 Diabetes (T2D). Xanthine oxidase (XO) breaks down purine nucleotides into uric acid and contributes to the production of reactive oxygen species (ROS). However, the relationship between XO activity and glucose homeostasis in T2D subjects with obesity is unclear. We hypothesized that disordered glucose levels are associated with serum XO activity in overweight women and men with T2D and without hyperuricemia. We studied serum XO activity in women and men with and without T2D. Our results show that serum XO activity was greater in T2D patients with body mass index (BMI) ≥ 25 kg/m2 than in those with BMI < 25 kg/m2 (p < 0.0001). Sex-based comparative analyses of overweight T2D patients showed that serum XO activity correlated with homeostasis model assessment of β-cell function (HOMA-β), fasting plasma glucose (FPG), and hemoglobin A1C in overweight T2D women but not in overweight T2D men. In addition, as compared to overweight T2D men, women had higher high-sensitivity C-reactive protein (hs-CRP) levels. However, overweight T2D men had higher XO activity and uric acid levels than women. Our results suggest that XO activity is higher in overweight T2D patients, especially in men, but is more sensitive to disordered glucose levels in overweight women with T2D.

Closed spinal dysraphism (SD) is a type of neural tube defect originating during early embryonic development whereby the neural tissue of the spinal defect remains covered by skin, often coinciding with markers of cutaneous stigmata. It is hypothesized that these events are caused by multifactorial processes, including genetic and environmental causes. We present an infant with a unique congenital midline lesion associated with a closed SD. Through comprehensive molecular profiling of the intraspinal lesion and contiguous skin lesion, an internal tandem duplication (ITD) of the kinase domain of the fibroblast growth factor receptor 1 (

Synpolydactyly 1 (SPD; MIM# 186000), also called syndactyly type II (SDTY2), is a genetic limb malformation characterized by polydactyly with syndactyly involving the webbing of the third and fourth fingers, and the fourth and fifth toes. It is caused by heterozygous alterations in HOXD13 with incomplete penetrance and phenotypic variability. In our study, a five-generation family with an SPD phenotype was enrolled in our Rare Disease Genomics Protocol. A comprehensive examination of three generations using Illumina short-read whole-genome sequencing (WGS) did not identify any causative variants. Subsequent WGS using Pacific Biosciences (PacBio) long-read HiFi Circular Consensus Sequencing (CCS) revealed a heterozygous 27-bp duplication in the polyalanine tract of HOXD13. Sanger sequencing of all available family members confirmed that the variant segregates with affected individuals. Re-analysis of an unrelated family with a similar SPD phenotype uncovered a 21-bp (7-alanine) duplication in the same region of HOXD13. Although ExpansionHunter identified these events in most individuals in a retrospective analysis, low sequence coverage due to high GC content in the HOXD13 polyalanine tract makes detection of these events challenging. Our findings highlight the value of long-read WGS in elucidating the molecular etiology of congenital limb malformation disorders. This article is protected by copyright. All rights reserved.

El trasplante de celulas hematopoyeticas es la infusion de celulas progenitoras con el objetivo de reestablecer la funcion medular e inmune en pacientes con una variedad de enfermedades malignas hematologicas (leucemia, linfoma, mieloma), enfermedades no malignas adquiridas de la medula osea (aplasia medular), enfermedades geneticas asociadas con una anormal hematopoyesis o alteracion en la funcion medular. Existen dos tipos de trasplantes: autologos (efectuado entre individuos de una misma especie) y alogenico (este tipo de trasplante consiste en obtener celulas progenitoras hematopoyeticas del propio paciente, conservarlas y re infundirlas, despues de administrar dosis de quimioterapia y/o radioterapia ablativa). El trasplante de celulas hematopoyeticas esta indicado en dos situaciones fundamentales: cuando el paciente tiene una enfermedad que afecta la medula osea y es curable por medio de la sustitucion total de esta por otra sana y la segunda en las afecciones en las que la toxicidad medular es un factor limitrofe para un tratamiento intensivo. Entre sus desventajas podemos mencionar la disponibilidad de una sola unidad en cada procedimiento, la posibilidad de transmitir enfermedades congenitas no detectadas por la historia familiar o pruebas de laboratorio o la disparidad del tamano con el receptor. La metodologia usada es descriptiva, con un enfoque documental, es decir, revisar fuentes disponibles en la red, como google academico, con contenido oportuno, actualizado y relevante desde el punto de vista cientifico que enriquezca el analisis del tema planteado en este articulo.

Clinical guidelines suggest the combination of 2 drugs as a strategy to treat hypertension. However, some antihypertensive combinations have been shown to be ineffective. Therefore, it is necessary to determine whether differences exist between the results of monotherapy and combination therapy by temporal monitoring of the responses to angiotensin II and norepinephrine, which are vasoconstrictors involved in the development of hypertension. Thus, the purpose of this work was to determine the vascular reactivity to angiotensin II and norepinephrine in spontaneously hypertensive rat (SHR) aortic rings after treatment with valsartan, lisinopril, nebivolol, nebivolol-lisinopril, and nebivolol-valsartan for different periods of time. In this study, male SHR and Wistar Kyoto normotensive (WKY) rats were divided into 7 groups treated for 1, 2, and 4 weeks: (1) WKY + vehicle, (2) SHR + vehicle; (3) SHR + nebivolol; (4) SHR + lisinopril; (5) SHR + valsartan; (6) SHR + nebivolol-lisinopril; and (7) SHR + nebivolol-valsartan. Blood pressure was measured by the tail-cuff method, and vascular reactivity was determined from the concentration-response curve to angiotensin II and norepinephrine in aortic rings. The results showed that the combined and individual treatments reduced mean blood pressure at all times evaluated. All treatments decreased vascular reactivity to angiotensin II; however, in the case of lisinopril and nebivolol-lisinopril, the effect observed was significant up to 2 weeks. All treatments decreased the reactivity to norepinephrine up to week 4. These results show a time-dependent difference in vascular reactivity between the pharmacological treatments, with nebivolol-valsartan and nebivolol-lisinopril being both effective combinations. Additionally, the results suggest crosstalk between the renin-angiotensin and sympathetic nervous systems to reduce blood pressure and to improve treatment efficacy.

Retinoblastoma is a childhood cancer of the retina involving germline or somatic alterations of the RB Transcriptional Corepressor 1 gene, RB1. Rare cases of sellar-suprasellar region retinoblastoma without evidence of ocular or pineal tumors have been described. A nine-month-old male presented with a sellar-suprasellar region mass. Histopathology showed an embryonal tumor with focal Flexner-Wintersteiner-like rosettes and loss of retinoblastoma protein (RB1) expression by immunohistochemistry. DNA array-based methylation profiling confidently classified the tumor as pineoblastoma group A/intracranial retinoblastoma. The patient was subsequently enrolled on an institutional translational cancer research protocol and underwent comprehensive molecular profiling, including paired tumor/normal exome and genome sequencing and RNA-sequencing of the tumor. Additionally, Pacific Biosciences (PacBio) Single Molecule Real Time (SMRT) sequencing was performed from comparator normal and disease-involved tissue to resolve complex structural variations. RNA-sequencing revealed multiple fusions clustered within 13q14.1-q21.3, including a novel in-frame fusion of RB1-SIAH3 predicted to prematurely truncate the RB1 protein. SMRT sequencing revealed a complex structural rearrangement spanning 13q14.11-q31.3, including two somatic structural variants within intron 17 of RB1. These events corresponded to the RB1-SIAH3 fusion and a novel RB1 rearrangement expected to correlate with the complete absence of RB1 protein expression. Comprehensive molecular analysis, including DNA array-based methylation profiling and sequencing-based methodologies, were critical for classification and understanding the complex mechanism of RB1 inactivation in this diagnostically challenging tumor.

Clinicians often omit or underuse several techniques while delivering therapy. These omissions can be due to unconscious factors (e.g., clinician's anxiety), or due to clinicians' deliberate decisions (e.g., modifying therapy believing that such modifications are on the patients' best interests). However, little is known about whether patients consider these modifications necessary. The main aim of this study was to explore the opinions about the important aspects of CBT according to both patients' and clinicians' perspectives. It also aimed to determine whether clinicians' anxiety influenced such preferences. To achieve these aims, two groups of participants were approached-CBT clinicians (n = 83) and CBT patients (n = 167). An online survey with a list of techniques commonly used in CBT was developed for each group, who indicated the importance they attributed to the techniques. Additionally, clinicians completed an anxiety measure. Results indicated that clinicians valued all "change-oriented" techniques and several "interpersonal engagement" techniques more than the patients. The only technique preferred by patients was "relaxation". Higher levels of clinician anxiety were associated with a lower preference for "behavioural experiments" and "exposure". In conclusion, clinicians are encouraged to plan therapy in collaboration with the patient, as well as to discuss the rationale for the implemented techniques.

Closed spinal dysraphism (SD) is a type of neural tube defect originating during early embryonic development whereby the neural tissue of the spinal defect remains covered by skin, often coinciding with markers of cutaneous stigmata. It is hypothesized that these events are caused by multifactorial processes, including genetic and environmental causes. We present an infant with a unique congenital midline lesion associated with a closed SD. Through comprehensive molecular profiling of the intraspinal lesion and contiguous skin lesion, an internal tandem duplication (ITD) of the kinase domain of the fibroblast growth factor receptor 1 (FGFR1) gene was found. Absence of this event in the peripheral blood and deviation of a variant allele frequency from a heterozygous state suggests that this event is somatic mosaic in nature. FGFR1 ITD results in constitutive activation of the receptor tyrosine kinase to promote cell growth, differentiation, and survival through RAS/MAPK signaling. Identification of FGFR1 ITD outside of central nervous system tumors is exceedingly rare.

Based on results of different works carried out under the project of hydrogen and sustainable energies of the Department of Energy and the perspective shown by Bergues et al [6], concerning the presentation and interpretation of results obtained by Aleman [21], Sandoval and Yanez [10] and Morales and Argueta [22]; it is established a rigorous method for the analysis of the results obtained using as a model the Gompertz equation, and its first and second derivatives as indicators, that focuses on dark fermentation bio-hydrogen production, from the perspective of the conversion of the product –i.e., not of reagents–, for purposes of its maximization and operation control.

The current literature extensively recommends making cultural adaptations to psychological therapies, in order to address the differences in values, beliefs and attitudes that patients from different ethnic groups might hold. Although this approach has shown positive outcomes in some settings, it is not well established yet whether such adaptations are needed for all therapies and in all cultures. Therefore, the main aim of this study was to systematically review the literature regarding culturally adapted and ‘conventional’ cognitive behavioural therapy (CBT) for Latin American patients, within Latin American and non-Latin American countries. Sixty empirical studies regarding the effectiveness of culturally adapted and conventional CBT were included in this review. The included studies were carried out in Latin American and non-Latin American countries. The information from all studies was synthesized and assessed, including intervention effect sizes, patient retention rates, methodological quality of the papers, and the type of cultural adaptation made to the therapy. There were no differences between the sets of studies in terms of effectiveness, retention rates, methodological quality, or proportion of statistically significant interventions. Most of the cultural adaptations were peripheral or unspecified. The evidence to date indicates that both conventional and culturally adapted CBT offer the same benefits for Latin American patients in terms of effectiveness and retention rates. Rather than focusing on cultural adaptations, clinicians are encouraged to improve the way they deliver CBT through training and supervision.Key learning aims(1)Cultural adaptations of CBT do not seem to offer any significant benefits to conventional, non-adapted CBT in Latin American patients.(2)Most of the adaptations made to CBT for Latin American patients are either peripheral or not disclosed.(3)We discuss the implications of adapting CBT for Latin American patients when there is no apparent need to do so.

Excellent quadratic non-linear optical (ONL-2) properties of the poly(2,5-bis(but-2-ynyloxy) benzoate, containing a polar diacetylene as a chromophore, were found. According with the Maker fringes method, oriented polymer films showing an order parameter of &sim, 0.23 can display outstanding and stable Second Harmonic Generation (SHG) effects under off-resonant conditions (SHG-532 nm). Also, the macroscopic non-linear optical (NLO)-coefficients were evaluated under the rod-like molecular approximation, obtaining: &chi, zzz(2) and &chi, zxx(2) in the order of 280 &plusmn, 10 and 100 &plusmn, 10 pm V&minus, 1, respectively. The mechanical and chemical properties, in addition to the large ONL-2 coefficients exhibited by this polymer, make it a promising organic material in the development of optoelectronic/photonic devices.

Objective Research has shown that clinicians underuse or omit techniques that constitute an essential part of evidence-based therapies. However, it is not known whether this is the case in DBT for eating disorders. The aims of this study were; 1) exploring the extent to which DBT techniques were used by self-identified DBT clinicians treating eating disorders; 2) determining whether therapists fell into distinct groups, based on their usage of DBT techniques; and 3) examining whether clinician characteristics were related to the use of such techniques. Method Seventy-three clinicians offering DBT for eating disorders completed an online survey about their use of specific DBT techniques. They also completed measures of personality and intolerance of uncertainty. Results In relation to the first aim, the pattern of use of DBT techniques showed a bimodal distribution — most were used either a lot or a little. Considering the second aim, clinicians fell into two groups according to the techniques that they delivered — one characterized by a higher use of DBT techniques and the other by a higher use of techniques that were specific to the treatment of eating disorders, rather than DBT methods. Finally, more experienced clinicians were more likely to be in the ‘DBT technique-focused’ group. Discussion DBT clinicians are encouraged to implement both sets of techniques (DBT techniques and standard techniques for the treatment of eating disorders) in an integrated way. Training, supervision and the use of manuals are recommended to decrease therapist drift in DBT.

Background Melon (Cucumis melo), an economically important vegetable crop, belongs to the Cucurbitaceae family which includes several other important crops such as watermelon, cucumber, and pumpkin. It has served as a model system for sex determination and vascular biology studies. However, genomic resources currently available for melon are limited. Result We constructed eleven full-length enriched and four standard cDNA libraries from fruits, flowers, leaves, roots, cotyledons, and calluses of four different melon genotypes, and generated 71,577 and 22,179 ESTs from full-length enriched and standard cDNA libraries, respectively. These ESTs, together with ~35,000 ESTs available in public domains, were assembled into 24,444 unigenes, which were extensively annotated by comparing their sequences to different protein and functional domain databases, assigning them Gene Ontology (GO) terms, and mapping them onto metabolic pathways. Comparative analysis of melon unigenes and other plant genomes revealed that 75% to 85% of melon unigenes had homologs in other dicot plants, while approximately 70% had homologs in monocot plants. The analysis also identified 6,972 gene families that were conserved across dicot and monocot plants, and 181, 1,192, and 220 gene families specific to fleshy fruit-bearing plants, the Cucurbitaceae family, and melon, respectively. Digital expression analysis identified a total of 175 tissue-specific genes, which provides a valuable gene sequence resource for future genomics and functional studies. Furthermore, we identified 4,068 simple sequence repeats (SSRs) and 3,073 single nucleotide polymorphisms (SNPs) in the melon EST collection. Finally, we obtained a total of 1,382 melon full-length transcripts through the analysis of full-length enriched cDNA clones that were sequenced from both ends. Analysis of these full-length transcripts indicated that sizes of melon 5' and 3' UTRs were similar to those of tomato, but longer than many other dicot plants. Codon usages of melon full-length transcripts were largely similar to those of Arabidopsis coding sequences. Conclusion The collection of melon ESTs generated from full-length enriched and standard cDNA libraries is expected to play significant roles in annotating the melon genome. The ESTs and associated analysis results will be useful resources for gene discovery, functional analysis, marker-assisted breeding of melon and closely related species, comparative genomic studies and for gaining insights into gene expression patterns., This work was supported by Research Grant Award No. IS-4223-09C from BARD, the United States-Israel Binational Agricultural Research and Development Fund, and by SNC Laboratoire ASL, de Ruiter Seeds B.V., Enza Zaden B.V., Gautier Semences S.A., Nunhems B.V., Rijk Zwaan B.V., Sakata Seed Inc, Semillas Fitó S.A., Seminis Vegetable Seeds Inc, Syngenta Seeds B.V., Takii and Company Ltd, Vilmorin and Cie S.A. and Zeraim Gedera Ltd (all of them as part of the support to ICuGI). CC was supported by CNRS ERL 8196.

The densities and the ultrasonic speeds of the aqueous solutions of 2-(2-hexyloxyethoxy)ethanol (C6E2) were measured over the entire range of mole fractions at 5°C. Excess molar volumes V E were readily calculated from the densities. The densities, in combination with the ultrasonic speeds, furnish estimates of the molar (and excess molar) isentropic compressibilities K S and the deviations u D of the ultrasonic speeds from the values calculated for ideal mixtures. Radical changes in the mole fraction derivatives of the excess molar properties of the (C6E2 + water) system, in the vicinity of an amphiphile mole fraction of 0.003, indicate that C6E2 like C6E3 is capable of micelle formation. Our data have been compared with those reported earlier for (C4E2 +, C2E2 +, and C6E3 + water). We have employed both mass action and pseudophase approaches to data analysis, together with the four-segment model approach.

Clinical questions are often studied by randomized clinical trials (RCTs) of heterogeneous design. Systematic reviewers and trial designers need to compare the design and results across these trials. If trial information is available in computer processable form, computer-based visualization techniques can provide cognitive support for such comparisons. CTeXplorer offers systematic reviewers and trial designers a tool to better and more quickly understand design heterogeneity in RCTs. CTeXplorer supports dynamic queries on eligibility criteria, interventions, and outcomes in three linked views. We tested CTeXplorer for displaying 12 RCTs on prevention of mother-to-child transmission of HIV. Three target users found the representation and organization of information intuitive and easy to learn. They were able to use CTeXplorer to achieve a quick cognitive overview of a heterogeneous group of RCTs. This work shows the benefit of capturing trial information in computable form. Future work includes leveraging ontologies to enhance CTeXplorer visualizations.

Blastocystis spp is a common intestinal parasite of humans and animals that has been associated to the etiology of irritable bowel syndrome (IBS); however, some studies have not found this association. Furthermore, many biological features of Blastocystis are little known. The objective of present study was to assess the generation times of Blastocystis cultures, from IBS patients and from asymptomatic carriers. A total of 100 isolates were obtained from 50 IBS patients and from 50 asymptomatic carriers. Up to 50 mg of feces from each participant were cultured in Barret's and in Pavlova's media during 48 h. Initial and final parasitological load were measured by microscopy and by quantitative PCR. Amplicons were purified, sequenced and submitted to GenBank; sequences were analysed for genetic diversity and a Bayesian inference allowed identifying genetic subtypes (ST). Generation times for Blastocystis isolates in both media, based on microscopic measures and molecular assays, were calculated. The clinical symptoms of IBS patients and distribution of Blastocystis ST 1, 2 and 3 in both groups was comparable to previous reports. Interestingly, the group of cases showed scarce mean nucleotide diversity (π) as compared to the control group (0.011±0.016 and 0.118±0.177, respectively), whilst high gene flow and small genetic differentiation indexes between different ST were found. Besides, Tajima's D test showed negative values for ST1-ST3. No statistical differences regarding parasitological load between cases and controls in both media, as searched by microscopy and by qPCR, were detected except that parasites grew faster in Barret's than in Pavlova's medium. Interestingly, slow growth of isolates recovered from cases in comparison to those of controls was observed (p

Laboratoire de Thermodynamique et Cinetique Chimique, U.R.A. au C.N.R.S. n°434, UniversityBlaise Pascal(Clemont-Ferrand), F-63177 Aubiere Cedex, France Department or Chemistry, University or Texas at El Paso, El Paso, Texas 79968-0513, U.S.A. Manuscript received 1February 1993 Excess molar volumes at 25°, are reported for the system 1,2-dimethoxyethane + water and 12-crown-4 +water across their entire respective composition ranges. These data have been compared to others taken from the literature, in an effort to assess the effects of replacing hydroxy by methoxy groups, of switching linearto cyclic polyethers and of inserting oxyethylene groups The data sets were analysed using a segmented composition model in order to obtain a quantitative description of the composition dependence of the excess molar volumes. Excess partial molar volumes of the organic species at infinite aqueous dilution were evaluated by means of four segment analyses of the various excess volume data sets. The effectiveness of the group additivity principle is nicely demonstrated.