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Measurement of environmental, behavioural, and physiological variables is essential for decision making in intensive animal production systems. Data collection and analysis, in real time, employing low-cost tools are fundamental to increase competitiveness and animal wellness. In this context, the goal of this research was to develop a low-cost measurement system for monitoring bioclimatic and behavioural parameters in the production of pigs in the pre-fattening stage. Internet of things technologies was employed in order to increase control over the production and as a tool for decision-making in real time. Sensor Networks were developed using low-cost sensors open-source platforms and code. The system was validated in a pig farm located in Antioquia-Colombia with two groups of 10 pigs in the pre-fattening stage. Parallel tests with three sequential repetitions were carried out. The system was validated through continuous environmental data collection and periodic physiological measurements. The developed system includes temperature, relative humidity, global radiation, wind speed, pressure, and lighting sensors. A high microclimatic variability was found inside the facilities, presenting thermal discomfort conditions in some hours of the day, which impacted the development and behaviour of the animals. The adaptation of low-cost technologies for real-time monitoring of pigs is viable and facilitate decision-making in real time improving the productive efficiency, supplying important information at a productive and scientific level. [ABSTRACT FROM AUTHOR]

The quality of the power grid has become a very important aspect to measure the quality of the electric service, which implies greater interest in knowing the characteristics of the network, also having information about incidents makes it possible to analyze events, disturbances that stand out in the electrical system preventing the effects they cause. This article analyzes criteria for the evaluation of the load profile through the identification of the consumption signatures, carrying out the study of connected loads in a controlled environment, in order to propose a procedure for the identification of it, verifying the behavior of loads in an electrical grid. [ABSTRACT FROM AUTHOR]

Introduction: The diseases that are partly or wholly determined by genetic factors, gradually assume a ratio of greater importance in the epidemiological profile of the child population, becoming one of the leading causes of mortality and morbidity. The perception of mothers of children affected by major congenital malformations has not been studied before in relation to the health system in Colombia. Objectives: To know the mother's perceptions of children with congenital malformations, on the etiology of the disease for their children, medical care received and the potential consequences of the malformation. Methods: Qualitative exploratory descriptive study of focus groups with mothers of children suffering from major congenital malformations. Results: Mothers identified the problems of child care in relation to the health system, treatment ambivalent and prejudice of health personnel and the need for clear answers on the future of children, as well as the need for reforms in the health care of people affected. [ABSTRACT FROM AUTHOR]

A case report of the agnathia holoprosencephaly complex and a review of the literature related to the complex genetic and embryologic aetiology of this group of major birth defects of face and central nervous system are informed. The present clinical case is the first reported in Colombia. [ABSTRACT FROM AUTHOR]

Competing Interests: Competing interests: We have read and understood BMJ policy on declaration of interests and have no relevant interests to declare. Provenance and peer review: Commissioned; externally peer reviewed.

Background: The transcription factor SOX9 is a key regulator of male sexual development and Sertoli cell differentiation. Altered S OX9 expression has been implicated in the pathogenesis of disorders of sexual development (DSD) in mammals. However, limited information exists regarding the epigenetic mechanisms governing its transcriptional control during sexual development., Methods: This study employed real-time PCR (qPCR), immunofluorescence (IIF), and chromatin immunoprecipitation (ChIP) assays to investigate the epigenetic mechanisms associated with S OX9 gene transcriptional control in human and mouse Sertoli cell lines. To identify the specific epigenetic enzymes involved in SOX9 epigenetic control, functional assays using siRNAs for P300, GCN5, and WDR5 were performed., Results: The transcriptional activation of SOX9 was associated with selective deposition of active histone modifications, such as H3K4me3 and H3K27ac, at its enhancer and promoter regions. Importantly, the histone acetyltransferase P300 was found to be significantly enriched at the SOX9 enhancers, co-localizing with the H3K27ac and the SOX9 transcription factor. Silencing of P300 led to decreased SOX9 expression and reduced H3K27ac levels at the eSR-A and e-ALDI enhancers, demonstrating the crucial role of P300-mediated histone acetylation in SOX9 transcriptional activation. Interestingly, another histone lysine acetyltransferases like GNC5 and methyltransferases as the Trithorax/COMPASS-like may also have a relevant role in male sexual differentiation., Conclusions: Histone acetylation by P300 at SOX9 enhancers, is a key mechanism governing the transcriptional control of this essential regulator of male sexual development. These findings provide important insights into the epigenetic basis of sexual differentiation and the potential pathogenesis of DSDs., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2024 Published by Elsevier Ltd.)

Duchenne Muscular Dystrophy (DMD) is characterized by an initial increase in motor function followed by a plateau phase and then entering a phase of steady decline. However, motor evolution of DMD have not been evaluated in developing countries. Therefore, this study aims to evaluate the trajectory of motor function in a sample of Colombian children with DMD. We included 119 children with DMD aged 4.8-19.3 years (mean follow-up = 1.7 years). A linear mixed model was used with age as the time scale and adjusted for covariates using a stepwise regression. Participants showed a progressive decline in motor skills from the age of 5 years with a decrease in speed around the age of 11 years (p < 0.001). After age 11, the decline in motor function was observed to continue until age 20 but at a slower rate (βAge = -9.64. and βAge2 = 0.18, p < 0.001 for both). Educational inclusion, glucocorticoid treatment and the number of mutated exons were shown to be associated with the motor performance. These findings may indicate that the evolution of DMD maintains similar patterns between high income countries and the Colombian population. They allow us to adapt and develop treatments that impact the population with DMD in Colombia, based in international evidence., (© 2023 Published by Elsevier Ltd on behalf of European Paediatric Neurology Society.)

Objective: Evaluation of the effectiveness of integration of depression and alcohol use disorder care into primary health care in low- and middle-income countries (LMICs) is limited. The authors aimed to quantify the effectiveness of integrating mental health care into primary care by examining depression and alcohol use disorder outcomes. The study updates a previous systematic review summarizing research on care integration in LMICs., Methods: Following PRISMA guidelines, the authors included studies from the previous review and studies published from 2017 to 2020 that included adults with alcohol use disorder or depression. Studies were evaluated for type of integration model with the typology developed previously. A meta-analysis using a random-effects model to assess effectiveness of integrated interventions was conducted. Meta-regression analyses to examine the impact of study characteristics on depression and alcohol use disorder outcomes were conducted., Results: In total, 49 new articles were identified, and 74 articles from the previous and current studies met inclusion criteria for the meta-analysis. Overall random effect sizes were 0.28 (95% CI=0.22-0.35) and 0.17 (95% CI=0.11-0.24) for studies targeting care integration for depression or for alcohol use disorder, respectively, into primary care in LMICs. High heterogeneity within and among studies was observed. No significant association was found between country income level and depression and alcohol use outcomes. However, differences in effect sizes between types of integration model were statistically significant (p<0.001)., Conclusions: Integration of mental health care into primary health care in LMICs was found to improve depression and alcohol use disorder outcomes. This evidence should be considered when designing interventions to improve mental health screening and treatment in LMICs.

Background: The triggering receptor expressed on myeloid cell 2 (TREM2) is a major regulator of neuroinflammatory processes in neurodegeneration. To date, the p.H157Y variant of TREM2 has been reported only in patients with Alzheimer's disease. Here, we report three patients with frontotemporal dementia (FTD) from three unrelated families with heterozygous p.H157Y variant of TREM2 : two patients from Colombian families (study 1) and a third Mexican origin case from the USA (study 2)., Methods: To determine if the p.H157Y variant might be associated with a specific FTD presentation, we compared in each study the cases with age-matched, sex-matched and education-matched groups-a healthy control group (HC) and a group with FTD with neither TREM2 mutations nor family antecedents (Ng-FTD and Ng-FTD-MND)., Results: The two Colombian cases presented with early behavioural changes, greater impairments in general cognition and executive function compared with both HC and Ng-FTD groups. These patients also exhibited brain atrophy in areas characteristic of FTD. Furthermore, TREM2 cases showed increased atrophy compared with Ng-FTD in frontal, temporal, parietal, precuneus, basal ganglia, parahippocampal/hippocampal and cerebellar regions. The Mexican case presented with FTD and motor neuron disease (MND), showing grey matter reduction in basal ganglia and thalamus, and extensive TDP-43 type B pathology., Conclusion: In all TREM2 cases, multiple atrophy peaks overlapped with the maximum peaks of TREM2 gene expression in crucial brain regions including frontal, temporal, thalamic and basal ganglia areas. These results provide the first report of an FTD presentation potentially associated with the p.H157Y variant with exacerbated neurocognitive impairments., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Objective: This article estimates the disease burden of 5q-SMA in Colombia by using the disability-adjusted life years (DALYs) metric., Methods: Epidemiological data were obtained from local databases and medical literature and were adjusted in the DisMod II tool. DALYs were obtained by adding years of life lost due to premature death (YLL) and years lived with disability (YLD)., Results: The modeled prevalence of 5q-SMA in Colombia was 0.74 per 100,000 population. The fatality rate for all types was 14.1%. The disease burden of 5q-SMA was estimated at 4,421 DALYs (8.6 DALYs/100,000), corresponding to 4,214 (95.3%) YLLs and 207 (4.7%) YLDs. Most of the DALYs were accounted in the 2-17 age group. Of the total burden, 78% correspond to SMA type 1, 18% to type 2, and 4% to type 3., Conclusions: Although 5q-SMA is a rare disease, it is linked to a significant disease burden due to premature mortality and severe sequelae. The estimates shown in this article are important inputs to inform public policy decisions on how to ensure adequate health service provision for patients with 5q-SMA.

Background: The MLPA (multiplex ligation dependent probe amplification) technique is currently the test most widely used to detect mutations in the Duchenne/Becker muscular dystrophy (DMD) gene in the initial assessment. However, several studies have suggested that MLPA results require implementing other detection methods due to false duplication. Our aim was to evaluate variables that could alter the peak ratio in MLPA in individuals with Duchenne/Becker muscular dystrophy (DMD/BMD) who present sequence variants at the probe hybridization site, such as the location of sequence variants (SVs), melting temperature of the probe, and the type of variant., Methods: We analyzed patients with clinical suspicion of DMD/BMD through the MLPA technique. The DMD gene was sequenced in patients with normal results in MLPA., Results: Of 111 patients, 72 had an abnormal MLPA result, of which 10 had a single exon abnormal peak, and 39 had a normal peak ratio. Out of 10 patients, 4 (40%) with a single exon abnormal peak ratio had SV at the hybridization site of the probe. In the other 6, the deletion was confirmed. Out of 39 patients with a normal peak ratio, 11 presented SVs at the hybridization site of the probe, and DMD/BMD was confirmed., Conclusions: In cases of abnormal peak ratio results of MLPA in a single exon, it would be valuable to sequence the DMD gene to assess whether variants in the probe hybridization site might result in a false positive that could be interpreted as an exon deletion., (© American Association for Clinical Chemistry 2023. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Introduction: The COVID-19 pandemic has had an impact both in general and mental healthcare, challenged the health systems worldwide, and affected their capacity to deliver essential health services. We aimed to describe perceived changes in ease of access to general and mental healthcare among patients with a diagnosis of depression and/or unhealthy alcohol use in Colombia., Methods: This study is embedded in the DIADA project, a multicenter implementation research study aimed at evaluating the integration of mental healthcare in primary care in Colombia. Between November 2020 and August 2021, we conducted a COVID-19 pandemic impact assessment in a cohort of participants with newly diagnosed depression and/or unhealthy alcohol use part of DIADA project. We assessed the ease of access and factors related to perceived ease of access to general or mental healthcare, during the COVID-19 pandemic., Results: 836 participants completed the COVID-19 pandemic impact assessment. About 30% of participants considered their mental health to be worse during the pandemic and 84.3% perceived access to general healthcare to be worse during the pandemic. Most of participants (85.8%) were unable to assess access to mental health services, but a significant proportion considered it to be worse. Experiencing worse ease of access to general healthcare was more frequent among women, patients with diagnosis of depression, and patients with comorbidities. Experiencing worse ease of access to mental healthcare was more frequent among patients aged between 30 and 49.9 years, from socioeconomic status between 4 and 6, affiliated to the contributive social security regime, attending urban study sites, and those who perceived their mental health was worse during the pandemic., Discussion: Despite the overall perception of worse mental health during the pandemic, the use of mental healthcare was low compared to general healthcare. Ease of access was perceived to be worse compared to pre-pandemic. Ease of access and access were affected by geographical study site, socioeconomic status, age and gender. Our findings highlight the need for improved communication between patients and institutions, tailored strategies to adapt the healthcare provision to patients' characteristics, and continued efforts to strengthen the role of mental healthcare provision in primary care., Competing Interests: Author LM is affiliated with the business that developed the mobile intervention platform used in this research. This relationship is extensively managed by author LM and her academic institution. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Gómez-Restrepo, Cepeda, Torrey, Suarez-Obando, Uribe-Restrepo, Park, Acosta, Camblor, Castro, Aguilera-Cruz, González, Chaparro, Gómez-Gamez, Bell and Marsch.)

Background: Mental disorders are a major cause of the global burden of disease and significantly contribute to disability and death. This challenge is particularly evident in low- and middle-income countries (LMICs), where >85% of the world's population live. Latin America is one region comprising LMICs where the burden of mental disorders is high and the availability of mental health services is low. This is particularly evident in Colombia, a country with a long-standing history of violence and associated mental health problems., Methods: This article describes the design of a multisite implementation science project, "Scaling Up Science-Based Mental Health Interventions in Latin America" (also known as the DIADA project), that is being conducted in six primary care systems in Colombia. This project, funded via a cooperative agreement from the National Institute of Mental Health, seeks to implement and assess the impact of a new model for promoting widespread access to mental health care for depression and unhealthy alcohol use within primary care settings and building an infrastructure to support research capacity and sustainability of the new service delivery model in Colombia. This care model centrally harnesses mobile health technology to increase the reach of science-based mental health care for depression and unhealthy alcohol use., Results: This initiative offers great promise to increase capacity for providing and sustaining evidence-based treatment for depression and unhealthy alcohol use in Colombia., Next Steps: This project may inform models of care that can extend to other regions of Latin America or other LMICs.

Fanconi anemia is a genetic syndrome clinically characterized by congenital malformations that affect several human systems, leads to progressive bone marrow failure and predisposes an individual to cancer, particularly in the urogenital area as well as the head and neck. It is commonly caused by the biallelic compromise of one of 22 genes involved in the FA/BRCA repair pathway in most cases. The diagnosis is based on clinical suspicion and confirmation using genetic analysis, where the chromosomal breakage test is considered the gold standard. Other diagnostic methods used include western blotting, multiplex ligation-dependent probe amplification and next-generation sequencing. This genetic condition has variable expressiveness, which makes early diagnosis difficult in certain cases. Although early diagnosis does not currently allow for improved cure rates for this condition, it does enable healthcare professionals to perform a specific systematic follow-up and, if indicated, a bone marrow transplantation that improves the mobility and mortality of affected individuals. The present review article is a theoretical revision of the pathophysiology, clinical manifestations and diagnosis methods intended for different specialists and general practitioners to improve the diagnosis of this condition., Competing Interests: The authors declare that they have no competing interests., (Copyright: © Moreno et al.)

Introduction: People with mental health conditions frequently attend primary care centers, but these conditions are underdiagnosed and undertreated. The objective of this paper is to describe the model and the findings of the implementation of a technology-based model of care for depression and unhealthy alcohol use in primary care centers in Colombia., Methods: Between February 2018 and March 2020, we implemented a technology-based model of care for depression and unhealthy alcohol use, following a modified stepped wedge methodology, in six urban and rural primary care centers in Colombia. The model included a series of steps aimed at screening patients attending medical appointments with general practitioners and supporting the diagnosis and treatment given by the general practitioner. We describe the model, its implementation and the characteristics of the screened and assessed patients., Results: During the implementation period, we conducted 22,354 screenings among 16,188 patients. The observed rate of general practitioner (GP)-confirmed depression diagnosis was 10.1% and of GP-confirmed diagnosis of unhealthy alcohol use was 1.3%. Patients with a depression diagnosis were primarily middle-aged women, while patients with unhealthy alcohol use were mainly young adult men., Discussion: The provision of training and technology-based strategies to screen patients and support the decision-making of GPs during the medical appointment enhanced the diagnosis and care provision of patients with depression and unhealthy alcohol use. However, time constraints, as well as structural and cultural barriers, were challenges for the implementation of the model, and the model should take into account local values, policies and resources to guarantee its long-term sustainability. As such, the long-term sustainability of the model will depend on the alignment of different stakeholders, including decision-makers, institutions, insurers, GPs, patients and communities, to reduce the amount of patients seeking medical care whose mental health conditions remain undetected, and therefore untreated, and to ensure an appropriate response to the demand for mental healthcare that was revealed by the implementation of our model., (Copyright © 2021 Asociación Colombiana de Psiquiatría. Published by Elsevier España, S.L.U. All rights reserved.)

Introduction: Social media use is growing in Latin America and is increasingly being used in innovative ways. This study sought to characterise the profile of social media users, among primary care patients in Colombia, and to assess predictors of their use of social media to search for health and mental health information (searching behaviour)., Methods: As part of a larger scale-up study, we surveyed 1580 patients across six primary care sites in Colombia about their social media use. We used chi-square and Student's t-tests to assess associations between demographic variables, social media use and searching behaviour, and a Chi-square Automatic Interaction Detector (CHAID) analysis to determine predictors of searching behaviour., Results: In total, 44.4% of respondents reported that they were social media users. Of these, 35.7% used social media to search for health-related information and 6.6% used it to search for mental health-related information. While the profile of individuals who used social media to search for health-related information was similar to that of general social media users (the highest use was among women living in urban areas), the presence of mental health symptoms was a more important predictor of using social media to search for mental health-related information than demographic variables. Individuals with moderate-severe symptoms of anxiety reported a significantly higher percentage of searching than individuals without symptoms (12.5% vs. 5.2%)., Conclusions: Given that some individuals with mental health disorders turn to social media to understand their illness, social media could be a successful medium for delivering mental health interventions in Colombia., (Copyright © 2021 Asociación Colombiana de Psiquiatría. All rights reserved.)

Introduction: This systematic review summarises the existing evidence on the implementation of technology-based mental healthcare models in the primary care setting., Methods: A systematic search was conducted (MEDLINE, Embase, CENTRAL) in August 2019 and studies were selected according to predefined eligibility criteria. The main outcomes were clinical effectiveness, adherence to primary treatment and cost of implementation., Selection Criteria: Studies with an experimental or quasi-experimental design that evaluated the implementation of technology-based mental healthcare models were included., Results: Five articles met the inclusion criteria. The models included technological devices such as tablets, cellphones and computers, with programs and mobile apps that supported decision-making in the care pathway. These decisions took place at different times, from the universal screening phase to the follow-up of patients with specific conditions. In general, the studies showed a decrease in the reported symptoms. However, there was great heterogeneity in both the health conditions and the outcomes, which hindered a quantitative synthesis. The assessment of risk of bias showed low quality of evidence., Conclusion: There is not enough evidence to support the implementation of a technology-based mental healthcare model. High quality studies that focus on implementation and effectiveness outcomes are needed to evaluate the impact of technology-based mental healthcare models in the primary care setting., (Copyright © 2021. Published by Elsevier España, S.L.U.)

Context: Colombia passed Law 100 in 1993 with the goal of providing universal health care coverage, and by 2013, over 96% of the Colombian population had health insurance coverage. However, little is known about how health-related quality of life (HRQoL) and health literacy are related among those with the two most common types of health insurance coverage: subsidized (those with lower incomes) and contributory (those with higher incomes) coverage., Objectives and Methods: In the current exploratory investigation, data from adults visiting six primary care clinics in Colombia were analysed to examine the relationship between HRQoL (assessed as problems with mobility, self-care, completing usual activities, pain/discomfort, and anxiety/depression), demographics, the two health insurance types, and health literacy. Analyses also assessed whether, within insurance types, health literacy was related to HRQoL., Results: Results showed that those with contributory health insurance coverage had greater health literacy than those with subsidized coverage, and this was accounted for by differences in education and socioeconomic status. HRQoL did not differ by insurance type. Although lower health literacy was related to worse HRQoL in the overall sample, in subgroup analyses lower health literacy significantly related to worse HRQoL only among those with subsidized health insurance coverage., Conclusion: Targeting skills which contribute to health literacy, such as interpreting medical information or filling out forms, may improve HRQoL, particularly in those with subsidized insurance coverage., (Copyright © 2021. Published by Elsevier España, S.L.U.)

Background: The implementation of new technologies in medical research, such as novel big storage systems, has recently gained importance. Electronic data capture is a perfect example as it powerfully facilitates medical research. However, its implementation in resource-limited settings, where basic clinical resources, internet access, and human resources may be reduced might be a problem., Methods: In this paper we described our approach for building a network architecture for data collection to achieve our objectives using a REDCap® tool in Colombia and provide guidance for data collection in similar settings., Conclusions: REDCap is a feasible and efficient electronic data capture software to use in similar contexts to Colombia. The software facilitated the whole data management process and is a way to build research capacities in resourced-limited settings., (Copyright © 2021. Published by Elsevier España, S.L.U.)

Objective: Assess the prevalence and types of digital technology use, as well as the extent to which patients use the internet and mobile devises. Evaluate the socioeconomic characteristics of patients and the possible relation to patterns of technology use in Colombia. Understand the nature of patient technology use in primary care for finding medical information., Methods: A survey was applied to adult patients who attended primary health care centers systems in 6 Colombian cities. The survey inquired about demographic characteristics, insurance, access to services, cell phone use, internet access, and the use of such technology to access health-related services and information. Data was collected and managed using REDCap. Summary statistics on each survey item were calculated and the differences between discrete variables were analyzed using chi-square. Multivariate analyses were performed using logistic regression analysis for binary dependent variables., Results: A total of 1580 patients were surveyed across the six study sites. 93% of the patients reported they have a cell phone. Patients from urban healthcare centers showed a higher use of the Internet on their phone than less urban settings. Around half of the surveyed patients reported Internet use (49.7%). Among Internet users, 65% of participants use the Internet looking for health care information. Around one-third of patients use cellphones to arrange clinic visits. Around 24% of participants answered positively for both Whooley's questions. Of those who screened positive on the Whooley questions, 43% reported being moderately anxious, 47% reported being very anxious. 51% reported having moderate pain; 52% reported having severe pain., Conclusions: The patterns of technology use identified in this study are essential for developing future health interventions based on ICT. The design of ICT clinical interventions must take into account the cellphone payment plans, availability of internet connection, advantages, and disadvantages of messenger services, including SMS as a possible alternative to people who do not have smartphones., (Copyright © 2021. Published by Elsevier España, S.L.U.)

Introduction: Access to healthcare services involves a complex dynamic, where mental health conditions are especially disadvantaged, due to multiple factors related to the context and the involved stakeholders. However, a characterisation of this phenomenon has not been carried out in Colombia, and this motivates the present study., Objectives: The objective of this study was to explore the causes that affect access to health services for depression and unhealthy alcohol use in Colombia, according to various stakeholders involved in the care process., Methods: In-depth interviews and focus groups were conducted with health professionals, administrative professionals, users, and representatives of community health organisations in five primary and secondary-level institutions in three regions of Colombia. Subsequently, to describe access to healthcare for depression and unhealthy alcohol use, excerpts from the interviews and focus groups were coded through content analysis, expert consensus, and grounded theory. Five categories of analysis were created: education and knowledge of the health condition, stigma, lack of training of health professionals, culture, and structure or organisational factors., Results: We characterised the barriers to a lack of illness recognition that affected access to care for depression or unhealthy alcohol use according to users, healthcare professionals and administrative staff from five primary and secondary care centres in Colombia. The groups identified that lack of recognition of depression was related to low education and knowledge about this condition within the population, stigma, and lack of training of health professionals, as well as to culture. For unhealthy alcohol use, the participants identified that low education and knowledge about this condition, lack of training of healthcare professionals, and culture affected its recognition, and therefore, healthcare access. Neither structural nor organisational factors seemed to play a role in the recognition or self-recognition of these conditions., Conclusions: This study provides essential information for the search for factors that undermine access to mental health in the Colombian context. Likewise, it promotes the generation of hypotheses that can lead to the development and implementation of tools to improve care in the field of mental illness., (Copyright © 2021. Published by Elsevier España, S.L.U.)

Harmful alcohol use is a public health problem worldwide, contributing to an estimated 5.1% of the global burden of illness. Screening and addressing at-risk drinking in primary care settings is an empirically supported health care intervention strategy to help reduce the burden of alcohol-use problems. In preparation for introducing screening and treatment for at-risk drinking in primary care clinics in Colombia, we conducted interviews with clinicians, clinic administrators, patients, and participants in Alcoholics Anonymous. Interviews were conducted within the framework of the Detección y Atención Integral de Depresión y Abuso de Alcohol en Atención Primaria (DIADA, [Detection and Integrated Care for Depression and Alcohol Use in Primary Care] www.project-diada.org) research project, and its qualitative phase that consisted of the collection of data from 15 focus groups, 6 interviews and field observations in 5 regional settings. All participants provided informed consent to participate in this research. Findings revealed the association of harmful alcohol use with a culture of consumption, within which it is learned and socially accepted practice. Recognition of harmful alcohol consumption includes a social context that influences its screening, diagnosis and prevention. The discussion highlights how, despite the existence of institutional strategies in healthcare settings and the awareness of the importance of at-risk drinking among health personnel, the recognition of the harmful use of alcohol as a pathology should be embedded in an understanding of historical, social and cultural dimensions that may affect different identification and care scenarios., (Copyright © 2021 Asociación Colombiana de Psiquiatría. All rights reserved.)

Background: Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease-specific therapies when available. Fabry disease, an X-linked lysosomal storage disorder caused by pathogenic variants in GLA, can lead to end-stage renal disease, cardiac arrhythmias, and stroke. Diagnostic delays are common due to the rarity of the disease and non-specificity of early symptoms. Newborn screening and screening of at-risk populations, (e.g., patients with hypertrophic cardiomyopathy or undiagnosed nephropathies) can identify individuals with Fabry disease. Subsequent cascade genotyping of family members may disclose a greater number of affected individuals, often at younger age than they would have been diagnosed otherwise., Methods: We conducted a literature search to identify all published data on family genetic testing for Fabry disease, and discussed these data, experts' own experiences with family genetic testing, and the barriers to this type of screening that are present in their respective countries., Results: There are potential barriers that make implementation of family genetic testing challenging in some countries. These include associated costs and low awareness of its importance, and cultural and societal issues. Regionally, there are barriers associated with population educational levels, national geography and infrastructures, and a lack of medical geneticists., Conclusion: In this review, the worldwide experience of an international group of experts of Fabry disease highlights the issues faced in the family genetic testing of patients affected with rare genetic diseases., (© 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

Background: Analysis of patients with chromosomal abnormalities, including Turner syndrome and Klinefelter syndrome, has highlighted the importance of X-linked gene dosage as a contributing factor for disease susceptibility. Escape from X-inactivation and X-linked imprinting can result in transcriptional differences between normal men and women as well as in patients with sex chromosome abnormalities., Objective: To identify differentially expressed genes among patients with Turner (45,X) and Klinefelter (46,XXY) syndrome using bioinformatics analysis., Methodology: Two gene expression data sets of Turner (45,X) and Klinefelter syndrome (47,XXY) were obtained from the Gene Omnibus Expression (GEO) database of the National Center for Biotechnology Information (NCBI). Statistical analysis was performed using R Bioconductor libraries. Differentially expressed genes (DEGs) were determined using significance analysis of microarray (SAM). The functional annotation of the DEGs was performed with DAVID v6.8 (The Database for Annotation, Visualization, and Integrated Discovery)., Results: There are no genes over-expressed simultaneously in both diseases. However, when crossing the list of under-expressed genes for 45,X cells and the list of over-expressed genes for 47,XXY cells, there are 16 common genes: SLC25A6, AKAP17A, ASMTL, KDM5C, KDM6A, ATRX, CSF2RA, DHRSX, CD99, ZBED1, EIF1AX, MVB12B, SMC1A, P2RY8, DOCK7, DDX3X, eight of which are involved in the regulation of gene expression by epigenetic mechanisms, regulation of splicing processes and protein synthesis., Conclusion: Of the 16 identified as under-expressed in 45,X cells and over-expressed in 47,XXY cells, 14 are located in X chromosome and 2 in autosomal chromosome; 8 of these genes are involved in the regulation of gene expression: 5 genes are related to epigenetic mechanisms, 2 in regulation of splicing processes, and 1 in the protein synthesis process. Our results are limited by it being the product of a bioinformatic analysis from mRNA isolated from whole blood, this makes necessary further exploration of the relationships between these genes and Turner syndrome and Klinefelter syndrome in the future., (© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of inheritance. We report the case of a 39-year-old patient with a picture with onset at six years of age, consisting of episodes of weakness caused by physical activity and intercurrent infectious processes, in whom a point mutation was found in the SCNA4 gene, not previously reported in the literature., Competing Interests: The authors declare that there are no conflicts of interest regarding the publication of this paper., (Copyright © 2020 Manuela Quiroga-Carrillo et al.)

Integration of behavioral health care into primary care can improve health and economic outcomes. This study adapted the Behavioral Health Integration in Medical Care (BHIMC) index to the Colombian context and assessed the baseline level of behavioral health integration in a sample of primary care organizations. The BHIMC was able to detect the capacity to provide integrated behavioral care in Colombian settings. Results indicate a minimal to partial integration level across all sites, and that it is possible to measure the degree of integrated care capacity and identify improvement areas for better behavioral health care provision.