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Genome Med ; 14(1): 60, 2022 06 07.
Article in English | MEDLINE | ID: mdl-35672798


Changes in medical practice are needed to improve the diagnosis of monogenic forms of selected common diseases. This article seeks to focus attention on the need for universal genetic testing in common diseases for which the recommended clinical management of patients with specific monogenic forms of disease diverges from standard management and has evidence for improved outcomes.We review evidence from genomic screening of large patient cohorts, which has confirmed that important monogenic case identification failures are commonplace in routine clinical care. These case identification failures constitute diagnostic misattributions, where the care of individuals with monogenic disease defaults to the treatment plan offered to those with polygenic or non-genetic forms of the disease.The number of identifiable and actionable monogenic forms of common diseases is increasing with time. Here, we provide six examples of common diseases for which universal genetic test implementation would drive improved care. We examine the evidence to support genetic testing for common diseases, and discuss barriers to widespread implementation. Finally, we propose recommendations for changes to genetic testing and care delivery aimed at reducing diagnostic misattributions, to serve as a starting point for further evaluation and development of evidence-based guidelines for implementation.

Disease , Missed Diagnosis , Disease/genetics , Genetic Testing , Humans
Asclepio ; 74(1): 1-11, jun. 2022.
Article in Spanish | IBECS | ID: ibc-203277


RESUMEN: el presente trabajo analiza las enfermedades ocupacionales en el Corpus Hippocraticum. Principalmente nos centraremos en Epidemias, que recoge numerosas historias clínicas, con el objetivo de analizar la asistencia sanitaria de los trabajadores en la médi-ca griega. Finalmente, abordamos el debate historiográfico en torno al acceso a la sanidad en el mundo antiguo

ABSTRACT: the aim of this paper is to analyze the occupational diseases through the Hippocratic Corpus. Mainly, the analysis will be focus on Epidemics, that collect many medical histories, in order to analyze the workers’ medical care in Greek Medicine. Finally, we address the historiographical debate around the general access to medical Care in the ancient world

History, Ancient , Health Sciences , History of Medicine , Delivery of Health Care/history , Epidemics/history , Disease
J Mol Biol ; 434(11): 167567, 2022 Jun 15.
Article in English | MEDLINE | ID: mdl-35662467


Exploring the functional effect of a non-synonymous coding variant at the protein level requires multiple pieces of information to be interpreted appropriately. This is particularly important when embarking on the study of a potentially pathogenic variant linked to a rare or monogenic disease. Whereas accurate protein stability predictions alone are generally informative, other effects, such as disruption of post-translational modifications or weakened ligand binding, may also contribute to the disease phenotype. Furthermore, consideration of nearby variants that are found in the healthy population may strengthen or refute a given mechanistic hypothesis. Whilst there are several bioinformatics tools available that score a genetic variant in terms of deleteriousness, there is no single tool that assembles multiple effects of a variant on the encoded protein, beyond structural stability, and presents them on the structure for inspection. Venus is a web application which, given a protein substitution, rapidly estimates the predicted effect on protein stability of the variant, flags if the variant affects a post-translational modification site, a predicted linear motif or known annotation, and determines the effect on protein stability of variants which affect nearby residues and have been identified in healthy populations. Venus is built upon Michelanglo and the results can be exported to it, allowing them to be annotated and shared with other researchers. Venus is freely accessible at and its source code is openly available at

Amino Acid Substitution , Disease , Internet Use , Protein Conformation , Proteins , Software , Amino Acid Substitution/genetics , Computational Biology/methods , Disease/genetics , Genetic Code , Humans , Proteins/chemistry , Proteins/genetics
Science ; 376(6596): 934-936, 2022 05 27.
Article in English | MEDLINE | ID: mdl-35617380


Oral microbiota form complex biofilms that can affect local and systemic health.

Biofilms , Disease , Gastrointestinal Microbiome , Mouth , Gastrointestinal Microbiome/physiology , Health , Humans , Mouth/microbiology
Science ; 376(6594): eabl4290, 2022 05 13.
Article in English | MEDLINE | ID: mdl-35549429


Understanding gene function and regulation in homeostasis and disease requires knowledge of the cellular and tissue contexts in which genes are expressed. Here, we applied four single-nucleus RNA sequencing methods to eight diverse, archived, frozen tissue types from 16 donors and 25 samples, generating a cross-tissue atlas of 209,126 nuclei profiles, which we integrated across tissues, donors, and laboratory methods with a conditional variational autoencoder. Using the resulting cross-tissue atlas, we highlight shared and tissue-specific features of tissue-resident cell populations; identify cell types that might contribute to neuromuscular, metabolic, and immune components of monogenic diseases and the biological processes involved in their pathology; and determine cell types and gene modules that might underlie disease mechanisms for complex traits analyzed by genome-wide association studies.

Cell Nucleus , Disease , RNA-Seq , Biomarkers , Cell Nucleus/genetics , Disease/genetics , Genome-Wide Association Study , Humans , Organ Specificity , Phenotype , RNA-Seq/methods
Front Public Health ; 10: 859947, 2022.
Article in English | MEDLINE | ID: mdl-35602135


An umbrella review of meta-analyses was performed to summarize the evidence of associations between alcohol consumption and health outcomes and to assess its credibility. Meta-analyses of prospective cohort studies reporting the associations of alcohol consumption with health outcomes were identified. We recalculated the random-effects summary effect size and 95% confidence interval, heterogeneity, and small-study effect for each meta-analysis and graded the evidence. Fifty-nine publications reporting 224 meta-analyses of prospective cohort studies with 140 unique health outcomes were included, in which there were 49 beneficial associations and 25 harmful associations with nominally statistically significant summary results. But quality of evidence was rated high only for seven beneficial associations (renal cell carcinoma risk, dementia risk, colorectal cancer mortality, and all-cause mortality in patients with hypertension for low alcohol consumption; renal cell carcinoma risk, cardiovascular disease (CVD) risk in patients with hypertension and all-cause mortality in patients with hypertension for moderate consumption) and four harmful associations (cutaneous basal cell carcinoma risk for low alcohol consumption; cutaneous basal cell carcinoma risk and cutaneous squamous cell carcinoma risk for moderate alcohol consumption; hemorrhagic stroke risk for high alcohol consumption). In this umbrella review, only 11 health outcomes (5 in low alcohol consumption, 5 in moderate alcohol consumption and 1 in high alcohol consumption) with statistically significant showed high quality of epidemiologic evidence. More robust and larger prospective studies are needed to verify our results.

Alcohol Drinking , Disease , Alcohol Drinking/adverse effects , Alcohol Drinking/mortality , Disease/etiology , Humans , Mortality , Outcome Assessment, Health Care , Prospective Studies
Science ; 376(6596): 932-933, 2022 05 27.
Article in English | MEDLINE | ID: mdl-35617406

Disease , Health , Microbiota , Humans
Lima; Perú. Ministerio de Salud; Abr. 2022. 25 p. ilus, tab.
Monography in Spanish | MINSAPERÚ, MINSAPERÚ | ID: biblio-1369381


El documento contiene las directrices para mejorar la capacidad técnica que permita garantizar el éxito de la Semana de Vacunación en la Américas para el control de enfermedades inmunoprevenibles.

Disease , Immunization , Vaccination , Control
Univ. salud ; 24(1): 45-54, ene.-abr. 2022. tab
Article in Spanish | LILACS-Express | LILACS, COLNAL | ID: biblio-1361185


Introducción: El efecto deletéreo de material particulado fino exterior sobre la salud respiratoria de la población de niños y de adultos mayores, es de interés en salud pública. Objetivo: Establecer el efecto de la contaminación por Material Particulado de menos de 2,5 μm de diámetro (PM2,5), sobre la Enfermedad Respiratoria Aguda (ERA) en los menores de 5 y personas de mínimo 65 años, ajustado por variables meteorológicas y climáticas, en los municipios del Área Metropolitana del Valle de Aburrá (Colombia), 2008 a 2015. Materiales y métodos: Estudio ecológico con información de la red de vigilancia de calidad del aire y de registros de prestación de servicios de salud. Se construyeron Modelos Aditivos Generalizados con función de enlace Poisson y suavización spline. Para cada rezago distribuido se calculó la medida de la asociación e intervalo de confianza. Resultados: Los casos de ERA aumentaron significativamente en los menores de 5 años en Envigado y Caldas (43,3% vs 29,6%) y en los de 65 y más años, en Medellín (13,2%) por cada incremento de 10 µg/m3 en PM2,5 al día quince a partir de la exposición. Conclusiones: Los eventos diarios respiratorios tuvieron especial frecuencia en Medellín y en municipios de la zona sur.

Introduction: The harmful effect of fine particulate matter on the respiratory health of child and elderly populations is a concern for public health. Objective: To establish the effect of pollution by less than 2.5 μm in diameter (PM2.5) particulate matter on Acute Respiratory Disease (ARD) during 2008-2015 in children younger than 5 and adults older than 65 from the Metropolitan Area of the Aburrá Valley (Colombia), adjusting for meteorological and climate variables. Materials and methods: Ecological study with information from the air quality surveillance network and individual records of health providers. Generalized Additive Models were developed using smoothing spline Poisson models. The assessment of the association and confidence intervals were calculated for each distributed lag. Results: For each 10 µg/m3 increment in PM2,5 and the day 15 post-exposure, ARD cases increased significantly in populations who are younger than 5 and older than 65 in Envigado and Caldas (43.3% vs. 29.6%) and Medellín (13.2%), respectively. Conclusions: Daily respiratory events had a special frequency in Medellín and the municipalities of the southern region.

Humans , Child, Preschool , Aged , Aged, 80 and over , Health , Environment , Respiratory Tract Diseases , Public Health , Disease , Air Pollution , Environmental Pollution , Particulate Matter
J Cell Biol ; 221(5)2022 05 02.
Article in English | MEDLINE | ID: mdl-35389422


SNX-RGS proteins are molecular tethers localized to multiple interorganelle contact sites that exhibit roles in cellular metabolism. Here, we highlight recent findings on these proteins and discuss their emerging roles in metabolism, human disease, and lipid trafficking.

RGS Proteins , Sorting Nexins , Disease , Humans , Lipid Metabolism , Metabolism , RGS Proteins/genetics , RGS Proteins/metabolism , Signal Transduction , Sorting Nexins/genetics , Sorting Nexins/metabolism
Science ; 376(6589): 134-135, 2022 04 08.
Article in English | MEDLINE | ID: mdl-35389792


Single-cell technology can be used to understand the genetic basis of human diseases.

Genetics, Population , High-Throughput Nucleotide Sequencing , Disease/genetics , Humans
Int J Mol Sci ; 23(7)2022 Mar 24.
Article in English | MEDLINE | ID: mdl-35408921


Protein kinases are important enzymes, involved in the regulation of various cellular processes [...].

Protein Kinases , Disease , Phosphorylation , Protein Kinases/metabolism , Substrate Specificity
Proc Natl Acad Sci U S A ; 119(16): e2118210119, 2022 04 19.
Article in English | MEDLINE | ID: mdl-35412913


The improving access to increasing amounts of biomedical data provides completely new chances for advanced patient stratification and disease subtyping strategies. This requires computational tools that produce uniformly robust results across highly heterogeneous molecular data. Unsupervised machine learning methodologies are able to discover de novo patterns in such data. Biclustering is especially suited by simultaneously identifying sample groups and corresponding feature sets across heterogeneous omics data. The performance of available biclustering algorithms heavily depends on individual parameterization and varies with their application. Here, we developed MoSBi (molecular signature identification using biclustering), an automated multialgorithm ensemble approach that integrates results utilizing an error model-supported similarity network. We systematically evaluated the performance of 11 available and established biclustering algorithms together with MoSBi. For this, we used transcriptomics, proteomics, and metabolomics data, as well as synthetic datasets covering various data properties. Profiting from multialgorithm integration, MoSBi identified robust group and disease-specific signatures across all scenarios, overcoming single algorithm specificities. Furthermore, we developed a scalable network-based visualization of bicluster communities that supports biological hypothesis generation. MoSBi is available as an R package and web service to make automated biclustering analysis accessible for application in molecular sample stratification.

Disease , Gene Expression Profiling , Metabolomics , Patients , Proteomics , Software , Algorithms , Cluster Analysis , Disease/classification , Humans , Patients/classification
Science ; 376(6588): eabj5089, 2022 04.
Article in English | MEDLINE | ID: mdl-35357915


The completion of a telomere-to-telomere human reference genome, T2T-CHM13, has resolved complex regions of the genome, including repetitive and homologous regions. Here, we present a high-resolution epigenetic study of previously unresolved sequences, representing entire acrocentric chromosome short arms, gene family expansions, and a diverse collection of repeat classes. This resource precisely maps CpG methylation (32.28 million CpGs), DNA accessibility, and short-read datasets (166,058 previously unresolved chromatin immunoprecipitation sequencing peaks) to provide evidence of activity across previously unidentified or corrected genes and reveals clinically relevant paralog-specific regulation. Probing CpG methylation across human centromeres from six diverse individuals generated an estimate of variability in kinetochore localization. This analysis provides a framework with which to investigate the most elusive regions of the human genome, granting insights into epigenetic regulation.

CpG Islands , DNA Methylation , Epigenesis, Genetic , Genome, Human , Centromere/genetics , Centromere/metabolism , Disease/genetics , Genetic Loci , Genomics/standards , Humans , Reference Standards , Sequence Analysis, DNA
San Salvador; MINSAL; mar. 22, 2022. 23 p. ilus, graf, tab, mapas.
Non-conventional in Spanish | LILACS, BISSAL | ID: biblio-1362213


Resumen de eventos de notificación hasta SE 10/2022. Alertas internacionales, situación epidemiológica de dengue, situación epidemiológica de zika y Chikungunya, infección respiratoria aguda, neumonías, situación mundial del 2019-nCov (OMS), vigilancia centinela de influenza y otros virus respiratorios, vigilancia centinela de rotavirus y enfermedad diarreica aguda

Summary of notification events until SE 10/2022. International alerts, epidemiological situation of dengue, epidemiological situation of Zika and Chikungunya, acute respiratory infection, pneumonia, global situation of 2019-nCov (WHO), sentinel surveillance of influenza and other respiratory viruses, sentinel surveillance of rotavirus and acute diarrheal disease

Viruses , Electronic Publications , Infections , Disease , Epidemiology , Notification
Arq. ciências saúde UNIPAR ; 26(1): 75-87, Jan-Abr. 2022.
Article in Portuguese | LILACS | ID: biblio-1362684


O cigarro eletrônico surgiu como uma tentativa para minimizar a dependência ao uso de tabaco, entretanto, engloba controvérsias e dúvidas acerca das reais implicações para o organismo humano. Diante disso, o presente estudo tem como objetivo realizar uma revisão da literatura a fim de relacionar o uso de cigarro eletrônico com suas consequências para os humanos. Os estudos analisados relatam experimentos in vitro e in vivo em camundongos, demonstrando menor concentração de poluentes e nocividades no cigarro eletrônico comparado ao convencional, porém, seu potencial efeito maléfico está relacionado à composição do e-líquido, à maneira do uso e à variedade de aromas presentes nos produtos. Além disso, foram verificadas lesões celulares, hiperreatividade das vias aéreas, liberação de citocinas ­ IL-8, IL-10 e TNF, redução da ação antimicrobiana de queratinócitos e potencial apoptose nas células alveolares. Foi observado também um aumento em até cinco vezes da concentração de carboxihemoglobina em comparação ao cigarro comum e um aumento na auto renovação de células de adenocarcinoma pulmonar de células não pequenas, devido à expressão de SOX2. Observa-se também que em casos de DPOC, o cigarro eletrônico não apresenta agravamentos na fisiologia respiratória, contrapondo outras ocorrências como asma, pneumonia, câncer de pulmão e doenças infecciosas que podem ser ocasionadas ou exacerbadas pelo seu uso. Contudo, pelo curto prazo de observação de seus efeitos, não é possível determinar com precisão a segurança dos cigarros eletrônicos, dessa forma, faz-se necessário que mais pesquisas longitudinais sejam desenvolvidas, auxiliando, assim, na construção de evidências sobre a segurança dos cigarros eletrônicos e na regulamentação futura do produto.

Electronic cigarettes emerged as an attempt to minimize tobacco dependence. However, its use is surrounded by controversies and doubts about the real implications for the human organism. Therefore, this study aims at performing a review of the most recent literature to corelate the use of e-cigarettes with their consequences for the human body. The analyzed studies relate in vitro and in vivo experiments on mice, demonstrating lower concentration of pollutants and harmfulness in the electronic cigarette than in conventional cigarettes. However, its potential harmful effect is related to the composition of the e-liquid, in its use and in the variety of aromas in the products. In addition, cellular lesions, airway hyperreactivity, release of IL-8, IL-10 and TNF cytokines could be observed, as well as reduced keratinocyte antimicrobial action and potential apoptosis in alveolar cells. An increase of up to five-fold the concentration of carboxyhemoglobin in comparison to ordinary cigarettes and an increase in self-renewal of non-small pulmonary adenocarcinoma cells due to the expression of SOX2 have also been related. It could also be observed that in COPD cases, e-cigarettes do not present worsening in respiratory physiology, which contrasts with other occurrences such as asthma, pneumonia, lung cancer, and infectious diseases that can be caused or exacerbated by its use. However, due to the short term of observation of the effects, the safety of e-cigarettes could not be accurately determined, thus, the need for further longitudinal research is necessary, which could be used to help build evidence about the safety of e-cigarettes and also to create future regulation of the product.

Animals , Mice , Rats , Electronic Nicotine Delivery Systems/instrumentation , Lung Diseases , Pneumonia/complications , Asthma/complications , Tobacco Use Disorder/complications , Smoking , Disease , Lung Injury , Tobacco Use , Vaping , Smokers , E-Cigarette Vapor/adverse effects , Lung Neoplasms
Lancet ; 399(10330): 1110-1111, 2022 03 19.
Article in English | MEDLINE | ID: mdl-35305732
Lima; Henry Oleff Carhuatocto Sandoval; 1 ed; Feb. 2022. 173 p. ilus.
Monography in Spanish | MINSAPERÚ, MINSAPERÚ | ID: biblio-1363032


Este breve texto no solo quiere relevar la difusión del derecho médico entre la comunidad jurídica sino también es mi forma de agradecerle al personal médico, por el trabajo excepcional que han realizado al hacer frente a una enfermedad que se cobró la vida de 551 médicos peruanos en el 2021 y más de 200 mil peruanos, colegas, amigos y amigas entrañables, así como queridos familiares. Finalmente, la metodología que utilizaremos será proporcionar el texto legal preciso sobre los eximentes de responsabilidad médica aplicable no solo para el ámbito civil sino administrativo y penal, así como su aplicación al caso peruano con lo cual podremos dar tranquilidad a los médicos sobre la forma de proceder en el actual contexto de emergencia sanitaria en que nos encontramos sin incurrir en una falta, infracción o ilícito que pueda afectar su importante carrera profesional.

Physicians , Work , Residence Characteristics , Disease , Occupational Groups
Bull Cancer ; 109(2): 241-245, 2022 Feb.
Article in English | MEDLINE | ID: mdl-35135674


The island of Mayotte is part of the French territory and one of the European Union's Outermost Regions but there is a significant lack of data and research on health and cancers in Mayotte. This article reviews the literature on health, disease and cancer in Mayotte, from the perspectives of social science and epidemiology. It starts by shedding light on the specificities of Mahoran demography and society, and shows the healthcare infrastructure is insufficient to meet the population's needs. It then reviews social science studies on health and illness in Mayotte and shows that the political issue of migration permeates the management and the experiences of health on the island. It ends with a focus on the epidemiology of cervical cancer and a review of the available data on screening, treatment and prevention. The article concludes with a quick review of ongoing research and urgently calls for more data and research on this critical public health issue.

Health Facilities , Health Services Needs and Demand , Medically Underserved Area , Comoros/epidemiology , Comoros/ethnology , Cultural Diversity , Disease , Emigration and Immigration , Female , Health , Health Facilities/standards , Health Services Needs and Demand/organization & administration , Health Services Needs and Demand/standards , Healthcare Disparities , Humans , Mass Screening , Social Sciences , Socioeconomic Factors , Undocumented Immigrants , Uterine Cervical Neoplasms/diagnosis , Uterine Cervical Neoplasms/epidemiology , Uterine Cervical Neoplasms/therapy