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Katherine McDermott,1,2 Alexander Mattia Presciutti,1,2 Nadine Levey,1 Julie Brewer,1 Christina L Rush,1,2 Natalia Giraldo-Santiago,1,3 Tony V Pham,1,2 Roger Pasinski,4 Neda Yousif,4 Milton Gholston,4 Vidya Raju,4 Jonathan Greenberg,1,3 Christine S Ritchie,2,3 Ana-Maria Vranceanu1,2 1Center for Health Outcomes and Interdisciplinary Research, Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA; 2Harvard Medical School, Boston, MA, USA; 3Center for Aging and Serious Illness, Massachusetts General Hospital, Boston, MA, USA; 4MGH Revere HealthCare Center, Revere, MA, USACorrespondence: Ana-Maria Vranceanu, Center for Health Outcomes and Interdisciplinary Research, Department of Psychiatry, Massachusetts General Hospital/Harvard Medical School, One Bowdoin Square, 1st Floor, Suite 100, Boston, MA, 02114, USA, Email avranceanu@mgh.harvard.eduPurpose: Chronic pain is highly prevalent and disabling for older adults, particularly those from underserved communities. However, there is an absence of research on how contextual (eg, community/societal) factors interact with pain for these patients. Informed by the socio-ecological model, this study aimed to elucidate the individual, interpersonal, community, and societal factors associated with chronic pain from the perceptions of older adult patients and medical staff in a community clinic.Patients and Methods: In this qualitative study, we conducted four focus groups and two interviews with medical staff (n=25) and three focus groups and seven individual interviews with older adult patients with chronic pain (n=18). Participants were recruited using purposive sampling from an ethnically and economically diverse primary care clinic in the greater Boston community. We transcribed assessments and thematically analyzed data using a hybrid deductive-inductive approach.Results: At the individual level, we identified three themes: (1) older adults with complex care needs, (2) impact of pain (including on physical, emotional, work, and identity functioning), and (3) coping with pain. At the interpersonal level, complex relationships with (1) social supports and (2) medical staff emerged as themes. The need for (1) resources and (2) culturally informed care was identified at the community level, and socioeconomic status impacting the availability of resources for managing chronic pain emerged for the societal domain.Conclusion: Findings underscore the intersection of factors contributing to the experience of pain among older adults from underserved communities. Our findings highlight the need to develop and implement treatments that fully address the experience of older adults with chronic pain at the individual, interpersonal, community, and societal levels.Keywords: community clinic, pain, health disparities

Adriana Maldonado-Franco,1 Luis F Giraldo-Cadavid,2,3 Eduardo Tuta-Quintero,2 Mauricio Cagy,4 Alirio R Bastidas Goyes,2 Daniel A Botero-Rosas2 1School of Engineering, Universidad de La Sabana, Chía, Colombia; 2School of Medicine, Universidad de La Sabana, Chía, Colombia; 3Interventional Pulmonology Service, Fundación Neumológica Colombiana, Bogotá, DC, Colombia; 4Biomedical Engineering Program, Universidade Federal do Rio de Janeiro, Rio de Janeiro, BrasilCorrespondence: Daniel A Botero-Rosas, Universidad de La Sabana, Morphophysiology Department, Km 7, Northern Highway, Chía, Cundinamarca, 140013, Colombia, Email Daniel.botero@unisabana.edu.coBackground: Development of new tools in artificial intelligence has an outstanding performance in the recognition of multidimensional patterns, which is why they have proven to be useful in the diagnosis of Chronic Obstructive Pulmonary Disease (COPD).Methods: This was an observational analytical single-centre study in patients with spirometry performed in outpatient medical care. The segment that goes from the peak expiratory flow to the forced vital capacity was modelled with quadratic polynomials, the coefficients obtained were used to train and test neural networks in the task of classifying patients with COPD.Results: A total of 695 patient records were included in the analysis. The COPD group was significantly older than the No COPD group. The pre-bronchodilator (Pre BD) and post-bronchodilator (Post BD) spirometric curves were modelled with a quadratic polynomial, and the coefficients obtained were used to feed three neural networks (Pre BD, Post BD and all coefficients). The best neural network was the one that used the post-bronchodilator coefficients, which has an input layer of 3 neurons and three hidden layers with sigmoid activation function and two neurons in the output layer with softmax activation function. This system had an accuracy of 92.9% accuracy, a sensitivity of 88.2% and a specificity of 94.3% when assessed using expert judgment as the reference test. It also showed better performance than the current gold standard, especially in specificity and negative predictive value.Conclusion: Artificial Neural Networks fed with coefficients obtained from quadratic and cubic polynomials have interesting potential of emulating the clinical diagnostic process and can become an important aid in primary care to help diagnose COPD in an early stage.Keywords: artificial neural networks, machine learning, diagnosis, accuracy, COPD

Jorge Emilio Salazar-Flórez,1 Leidy Tatiana Arenas-Cardona,2 Ninemy Marhx,2 Eduardo López-Guerrero,2 Ángela Patricia Echeverri-Rendón,1 Luz Stella Giraldo-Cardona1 1Department of Medicine, San Martín University Foundation, Sabaneta, Antioquia, Colombia; 2Department of Medicine, Hospital General de Occidente, University Health Sciences Center of University of Guadalajara, Jalisco, MexicoCorrespondence: Jorge Emilio Salazar-Flórez, Faculty of Medicine, San Martín University Foundation, Calle 75 sur &num; 34-50, Block 2, Sabaneta, Antioquia, Colombia, Tel +604-5906983 – 5025, Email jorge.salazarf@sanmartin.edu.coBackground: Effective post-operative analgesia profoundly influences patient recovery and outcomes after caesarean delivery. The Transversus Abdominis Plane (TAP) block represents a potential alternative, potentially offering greater effectiveness than epidural analgesia while causing fewer adverse effects.Objective: To assess if the abdominal transverse block provides superior postoperative pain relief in patients undergoing caesarean delivery compared to epidural analgesia.Methods: Participants were divided into parallel groups: an experimental group receiving TAP block (n=25) and a control group receiving epidural analgesia (n=24). All patients received a 10 mg dose of hyoscine at the end of the surgery. Experimental Group received a total of 20 mL of 0.2% ropivacaine. In Epidural group received 0.2% ropivacaine at 4 mL/h for 24 hours. All participants were administered combined with neuroaxial block anesthesia. The patients selected for epidural analgesia received the mentioned dose, while the other group block had the epidural catheter removed after the cesarean section. The primary outcome was post-caesarean pain, evaluated using the Visual Analog Scale (VAS) at four intervals (0, 6, 12, and 24 hours). Also, surgical bleeding and residual motor were evaluated. VAS pain scores between the groups were compared using the Friedman test and Generalized Linear Model (GLM) for non-normally distributed data. The effect size was estimated with Eta Square (), considering values ≥ 0.38 as indicative of large effects. A two-tailed p-value < 0.05 was deemed statistically significant.Results: Statistically significant differences in pain scores were noted at 0 and 6 hours post-surgery (p< 0.01). The TAP block group reported lower pain scores at 0 hours (mean=0.04) and 6 hours (mean=1.16) compared to the epidural group, reflecting a substantial effect size.Conclusion: The TAP block proves advantageous in mitigating postoperative pain for women post-caesarean delivery, particularly in the initial 6 postpartum hours. This relief promotes early mother-infant bonding and facilitates breastfeeding.Keywords: analgesics, anesthetics, transverse abdominis plane block, epidural, cesarean section, pain

Ángela María Giraldo-Montoya,1,2,&ast; Carlos A Torres-Duque,1,3,&ast; Luis F Giraldo-Cadavid,4,5 Maria E Laucho-Contreras,1 Angélica González-Flórez,1 Ana María Santos,3 Eduardo A Tuta-Quintero,1,5 Bartolomé R Celli,6 Mauricio González-García1,7 1CINEUMO, Research Center, Fundación Neumológica Colombiana, Bogotá, Colombia; 2School of Medicine, Universidad Tecnológica de Pereira, Pereira, Colombia; 3Biosciences Doctoral, Universidad de La Sabana, Chía, Colombia; 4Medical Department, Fundación Neumológica Colombiana, Bogotá, Colombia; 5Epidemiology and Biostatistics Department, Universidad de La Sabana, Chía, Colombia; 6Harvard Medical School, Boston, MA, USA; 7School of Medicine, Universidad de La Sabana, Chía, Colombia&ast;These authors contributed equally to this workCorrespondence: Carlos A Torres-Duque, Research Department, Fundación Neumológica Colombiana, Bogotá, Colombia, Biosciences Doctoral, Universidad de La Sabana, Chía, Colombia, Email ctorres@neumologica.orgIntroduction: There is a need to better understand the etiotypes of chronic obstructive pulmonary disease (COPD) beyond the tobacco-smoke (TS-COPD). Wood smoke COPD (WS-COPD) is characterized by greater airway compromise, milder emphysema, and slower rate of lung function decline than TS-COPD. However, it is unclear if these two etiotypes of COPD have differences in sputum biomarker concentrations. Objective was to compare sputum levels of selected sputum biomarkers between WS-COPD and TS-COPD, and healthy controls.Methods: Eighty-eight women (69± 12 years) were recruited and classified into: WS-COPD (n=31), TS-COPD (n=29) and controls (n=28). Using ELISA, we determined induced sputum levels of metalloproteinase 9 (MMP-9), chemokine ligand 5 (CCL5), interleukin-8 (IL-8), chemokine ligand 16 (CCL16/HCC-4) and vascular endothelial growth factor (VEGF-1). Differences were analyzed by Kruskal–Wallis and Mann–Whitney-U tests and correlation between airflow limitation and biomarkers by Spearman’s test.Results: At similar degree of airflow obstruction, anthropometrics and medications use, the level of sputum CCL5 was higher in TS-COPD than WS-COPD (p=0.03) without differences in MMP-9, IL-8, CCL16/HCC-4, and VEGF-1. Women with WS-COPD and TS-COPD showed significantly higher sputum levels of MMP-9, IL-8 and CCL5 compared with controls (p< 0.001). FEV1% predicted correlated negatively with levels of MMP-9 (rho:-0.26; P=0.016), CCL5 (rho:-0.37; P=0.001), IL-8 (rho:-0.42; P< 0.001) and VEGF (rho:-0.22; P=0.04).Conclusion: While sputum concentrations of MMP-9, IL-8, and CCL5 were higher in COPD women compared with controls, women with TS-COPD had higher levels of CCL5 compared with those with WS-COPD. Whether this finding relates to differences in pathobiological pathways remains to be determined.Keywords: COPD, wood smoke, biomass fuels, tobacco smoke, biomarkers, sputum, cytokines

Introduction: Severe perineal tears (SPT) are complications that arise during childbirth. These can result in rectal fistulas and fecal and urinary incontinence, leading to medium- to long-term morbidity that requires proper diagnosis, management, and follow-up. Objective: To determine the incidence of SPT and related immediate complications (within the first 48 hours) and early complications (within the first three months) following delivery. Methodology: This article reports a descriptive cohort study on patients with SPT during obstetric care in a reference center in Medellín, Colombia, between 2015–2017. Medical records were reviewed, and clinical data and immediate and early complications were recorded during pelvic floor control appointments. Results: A total of 14,247 vaginal births were attended. The incidence of SPT was 1.6%, with 1.3% being of third-degree and 0.3%, of fourth-degree. Of these, 66.5% had instrument-assisted vertex delivery, 81.9% had an episiotomy; the median expulsion period was 19 minutes, and 3% had shoulder dystocia. Immediate complications in patients with SPTs included: suture dehiscence and wound infection (0.85%), dehiscence (0.85%), and wound infection (0.42%). 18.4% attended the urogynecological control in the third month. Among them, 38.2% had at least one complication, mainly fecal and flatus incontinence (16.3% and 13.9%, respectively). Conclusions: The incidence of SPT and immediate postpartum complications were infrequent. Postpartum follow-up strategies should be improved to identify and manage medium-term complications in a timely manner.

Harry Pachajoa,1,2 Sebastian Giraldo-Ocampo3 1Genetics Division, Fundación Valle del Lili, Cali, Colombia; 2Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia; 3Departamento de Microbiología, Universidad del Valle, Cali, ColombiaCorrespondence: Harry Pachajoa, Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Calle 18 No. 122-135 Pance, Cali, Colombia, Tel +57 5552334 ext 7653, Email hmpachajoa@icesi.edu.coAbstract: Osteogenesis imperfecta (OI) is a group of genetic skeletal disorders, with a prevalence of 1 in 15,000– 20,000 births. OI type V has been described in approximately 150 cases and all patients carry the variant (c.-14C> T) in the IFITM5 gene. However, two other variants, p.S40L and p.N48S have been reported in this gene, leading to clinical phenotypes different from OI type V. Here we described a patient with multiple bone fractures, scoliosis, skull alteration (plagiocephaly), bone deformation, bone rickets, and intramedullary epithelioid osteosarcoma that bears the recently reported heterozygous variant c.143A>G (p.N48S) in the IFITM5 gene. This case supports the pathogenicity of this new variant in the IFITM5 gene and adds information regarding its clinical phenotype.Keywords: genetic skeletal disorders, IFITM5, osteogenesis imperfecta, brittle bone disease, case report

Harry Pachajoa,1– 3 Eidith Gomez-Pineda,2 Sebastian Giraldo-Ocampo,4 Juliana Lores1– 3 1Genetics Division, Fundación Valle del Lili, Cali, Colombia; 2Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia; 3Centro de Investigaciones Clínicas, Fundación Valle del Lili, Cali, Colombia; 4Universidad del Valle, Cali, ColombiaCorrespondence: Harry Pachajoa, Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Calle 18 No. 122-135 Pance, Cali, Colombia, Tel +57 5552334 ext 7653, Email hmpachajoa@icesi.edu.coAbstract: Mowat-Wilson syndrome is a rare, autosomal dominant neurodevelopmental disorder characterized by distinctive facial gestalt and intellectual disability that is often associated with microcephaly, seizures and multiple congenital anomalies, mainly heart defects. More than 350 patients and 180 genetic variants in the ZEB2 gene, have been reported with an estimated frequency of 1 per 70,000 births. Here we report a Colombian female patient with facial gestalt, intellectual disability, microcephaly, congenital heart defects, hypothyroidism and middle ear defect associated with the nonsense pathogenic variant c.2761C>T (p.Arg921Ter) in the ZEB2 gene. This case contributes to the understanding of the clinical complications and the natural history of this complex and clinically heterogeneous disorder but also to the awareness that patients with heart congenital defects and dysmorphic facies may present an underlying genetic disorder.Keywords: neurodevelopmental disorder, ZEB2, genetic disorder, multiple congenital disorder

Lina Perafan-Valdes,1,2 Sebastian Giraldo-Ocampo,3 Juliana Lores,2 Harry Pachajoa2,4 1Universidad Libre, Programa de Maestría en Epidemiología, Cali, Colombia; 2Fundación Valle del Lili, Genetics Division, Cali, Colombia; 3Universidad del Valle, Departamento de Microbiología, Cali, Colombia; 4Universidad Icesi, Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Cali, ColombiaCorrespondence: Harry Pachajoa, Fundación Valle del Lili, Genetics Division, Carrera 98 &num; 18-49, Cali, Colombia, Tel +57 5552334 ext 7653, Email hmpachajoa@icesi.edu.coAbstract: Neurofibromatosis type 1 is one of the most common genetic autosomal dominant disorders described, with a prevalence of 1 in 2000 to 1 in 3000 individuals. It is characterized by skin, nerves, and bone abnormalities. Non-related to NF1, hypospadias is a displacement in the urethral opening which in the majority of patients has an idiopathic cause. Here, we describe a patient with neurofibromatosis type 1, hypospadias, and unilateral cryptorchidism. The heterozygous variants c.6789_6792delTTAC, p.(Tyr2264Thrfs&ast;5) and c.140A>G, p.(Tyr47Cys) were found in the NF1 and NR5A1 genes, respectively. This case contributes to the phenotypical characterization of patients with NF1 but also with hypospadias caused by a mutation in the NR5A1 gene, which usually leads to severe sex disorders.Keywords: tumor predisposition syndrome, cafe-au-lait macules, external genitalia development, Colombia

The CMS Tier-0 system is responsible for the prompt processing and distribution of the data collected by the CMS Experiment. A number of upgrades were implemented during the long shutdown 2 of the Large Hadron Collider, which improved the performance and reliability of the system. In this report, these upgrades are discussed and a more detailed description of the Tier-0 system is given. The experience of the data taking during Run 3 detector commissioning as well as the performance of the system are highlighted.

Abstract Background Aging generates changes in the gut microbiota, affecting its functionality. Little is known about gut microbiota in critically ill older adults. The objective of this study was to describe the profile of gut microbiota in a cohort of critically ill older adults. Methods This observational study was conducted in five health institutions. Over a 6-month study period, critically ill patients over 18 years old who were admitted to the intensive care unit were enrolled. Fecal microbiota profiles were determined from 155 individuals, over 60 years old (n = 72) and under 60 years old (n = 83). Gut microbiota was analyzed by sequencing the V3-V4 region of the 16S rRNA gene. Alpha and beta diversity, operational taxonomic units and the interaction of gut microbiota with variables under study were analyzed. Amplicon sequence variants (ASVs) specifically associated with age were recovered by including gender, discharge condition, BMI, ICU stay and antibiotics as covariates in a linear mixed model. Results In older adults, sepsis, malnutrition, antibiotic prescription and severity (APACHE and SOFA scores) were higher than in the group under 60 years of age. Alpha diversity showed lower gut microbiota diversity in those over 60 years of age (p

Sebastian Giraldo-Ocampo,1 Rafael Adrian Pacheco-Orozco,2 Harry Pachajoa2,3 1Universidad del Valle, Cali, Colombia; 2Genetics Division, Fundación Valle del Lili, Cali, Colombia; 3Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Cali, ColombiaCorrespondence: Harry Pachajoa, Genetics Division, Fundación Valle del Lili, Carrera 98 # 18-49, Cali, Colombia, Tel +57 5552334 ext 7653, Email hmpachajoa@icesi.edu.coAbstract: White–Sutton syndrome is a rare type of autosomal dominant neurodevelopmental disorder caused by mutations, mostly de novo, in the POGZ gene. No more than 120 patients have been described so far in the literature. Common clinical manifestations include intellectual disability, developmental delay, autism spectrum disorder, other behavioral abnormalities, sleeping problems, hyperactivity and visual problems. We describe a 20-year-old male patient from Colombia who presented with delayed psychomotor development, intellectual disability, obesity, sleep difficulties, hypotonia, hypogonadism, gynecomastia, visual abnormalities and several facial dysmorphisms. Genetic testing showed a novel heterozygous frameshift variant (c.3308del; p.Leu1103Profs&ast;19) in the POGZ gene (NM_015100.3). This is the first report of a diagnosed patient with WHSUS in Colombia.Keywords: WHSUS, neurodevelopmental disorder, Colombia, case report

Pilar Giraldo,1,2 Marcio Andrade-Campos2,3 1Haematology, Hospital Quironsalud, Zaragoza, Spain; 2Foundation FEETEG, Zaragoza, Spain; 3Haematology Department, Hospital del Mar, Barcelona, SpainCorrespondence: Pilar Giraldo Email giraldocastellano@gmail.comPurpose: Gaucher disease (GD) is the most common lysosomal storage disorder. The principal manifestations for its diagnosis and further monitoring include haematological manifestations such as anaemia, thrombocytopaenia, spleen enlargement, and bleeding disorders, among others. This review aims to summarise and update the role of haematological complications in GD diagnosis and follow-up, describe their management strategies, and to use these indicators as part of the diagnostic approach.Materials and Methods: A systematic review following the recommendations of PRISMA-P 2020 was carried out. Publications indexed in the databases PubMed, Embase, Science Open, Mendeley, and Web of Science were electronically searched by three independent reviewers, and publications up to June 2021 were accessed. A total of 246 publications were initially listed, of which 129 were included for further review and analysis. Case reports were considered if they were representative of a relevant hematologic complication.Results: From the first review dated in 1974 to the latest publication in 2021, including different populations confirmed that the haematological manifestations such as thrombocytopaenia and splenomegaly at diagnosis of GD type 1 are the most frequent features of the disease. The incorporation of haematological parameters to diagnosis strategies increases their cost-effectiveness. Hematologic parameters are part of the scoring system for disease assessment and the evaluation of therapeutic outcomes, providing reliable and accessible data to improve the management of GD. However, cytopaenia, underlying coagulation disorders, and platelet dysfunction need to be addressed, especially during pregnancy or surgery. Long-term haematological complications include the risk of neoplasia and immune impairment, an area of unmet need that is currently under research.Conclusion: Haematological features are key for GD suspicion, diagnosis, and management. Normalization of hematological parameters is achieved with the treatment; however, there are unmet needs such as the underlying inflammatory status and the long-term risk of hematologic neoplasia.Keywords: Gaucher disease, long-term complications, bleeding disorders, haematologic manifestations