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1.
Cell Genom ; 4(1): 100468, 2024 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-38190104

RESUMO

Chronic kidney disease is a leading cause of death and disability globally and impacts individuals of African ancestry (AFR) or with ancestry in the Americas (AMS) who are under-represented in genome-wide association studies (GWASs) of kidney function. To address this bias, we conducted a large meta-analysis of GWASs of estimated glomerular filtration rate (eGFR) in 145,732 AFR and AMS individuals. We identified 41 loci at genome-wide significance (p < 5 × 10-8), of which two have not been previously reported in any ancestry group. We integrated fine-mapped loci with epigenomic and transcriptomic resources to highlight potential effector genes relevant to kidney physiology and disease, and reveal key regulatory elements and pathways involved in renal function and development. We demonstrate the varying but increased predictive power offered by a multi-ancestry polygenic score for eGFR and highlight the importance of population diversity in GWASs and multi-omics resources to enhance opportunities for clinical translation for all.


Assuntos
Estudo de Associação Genômica Ampla , Insuficiência Renal Crônica , Humanos , Insuficiência Renal Crônica/diagnóstico , Taxa de Filtração Glomerular/genética , Herança Multifatorial/genética , Rim/fisiologia
2.
Arch Med Res ; 53(7): 673-679, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36244846

RESUMO

BACKGROUND: Activation of the renin-angiotensin-aldosterone axis with elevation of inflammatory markers and the resulting fibrosis play a very important role in atrial remodeling in patients with atrial fibrillation (AF), which is associated with post-cardioversion recurrence. AIM OF THE STUDY: The purpose of the study was to describe the time course of angiotensin II (AngII), aldosterone, and of the amino terminal pro-peptide of type III pro-collagen (PIIINP) following cardioversion, and their association with arrhythmia recurrence. METHODS: Ninety-nine subjects with long-standing, persistent, non-valvular atrial fibrillation who underwent successful electrical cardioversion were included, with a 6 month follow up. Angiotensin II (AngII), aldosterone and PIIINP concentrations were measured at 0, 1, 7, 30, and 180 d. Two groups were formed for the analysis: continuing sinus rhythm and recurrence of AF. RESULTS: 53% of the subjects experienced recurrence of AF. Subjects with recurrence had larger left atrial diameters and lower global peak atrial longitudinal strain (8.7 vs. 19.7%; p <0.001), higher levels of AngII (431.85 vs. 257.97 pg/mL; p = 0.003) at 180 d, higher pre-cardioversion levels of aldosterone, (11.42 vs. 5.46 pg/mL; p = 0.048) at 1 d (12.01 vs. 5.05 pg/mL; p = 0.004) and at 180 d (12.66 vs. 7.51 pg/mL; p = 0.011). There were no differences in PIIINP levels between both groups. CONCLUSIONS: Electrical post-cardioversion recurrence in subjects with long-standing, persistent AF is associated with elevated levels of AngII and aldosterone.


Assuntos
Fibrilação Atrial , Remodelamento Atrial , Humanos , Cardioversão Elétrica/métodos , Fibrilação Atrial/terapia , Aldosterona , Angiotensina II , Resultado do Tratamento , Biomarcadores , Recidiva
3.
Rev Med Inst Mex Seguro Soc ; 60(Suppl 2): 103-109, 2022 Dec 19.
Artigo em Espanhol | MEDLINE | ID: mdl-36796023

RESUMO

In diabetes, obtaining optimal control is key to reducing chronic complications. Unfortunately, not all patients achieve the recommended goals. Therefore, the challenges to develop and evaluate comprehensive care models are enormous. In October 2008, the Diabetic Patient Care Program (DiabetIMSS) was designed and implemented in family medicine. Its principal component is the multidisciplinary team (doctor, nurse, psychologist, dietitian, dentist, and social worker) that offers coordinated health care; monthly medical consultation and individual, family and group education on self-care and prevention of complications for 12 months. Due to the COVID-19 pandemic, the percentage of attendance at the DiabetIMSS modules decreased significantly. This is how the Medical Director considered it necessary to strengthen them, and the Diabetes Care Centers (CADIMSS) arose. In addition to providing medical care with a comprehensive and multidisciplinary approach, the CADIMSS encourages the co-responsibility of the patient and his family. It consists of monthly medical consultation and nursing staff provides monthly educational sessions for 6 months. Pending tasks remain and there are still areas of opportunity to modernize and reorganize services that contribute to improving the health of the population with diabetes.


En un paciente con diabetes, la obtención de un control óptimo es clave para reducir las complicaciones crónicas. Desafortunadamente, no todos los pacientes logran las metas recomendadas. Por ello, son substanciales los desafíos para desarrollar y evaluar modelos de atención integral. En octubre del 2008, se diseñó e implementó el Programa de Atención al Paciente Diabético (DiabetIMSS) en medicina familiar. Su componente básico es el equipo multidisciplinario (médico, enfermera, psicólogo, dietista, dentista y trabajador social) que ofrece asistencia sanitaria coordinada, consulta médica mensual y educación individual, familiar y grupal sobre autocuidado y prevención de complicaciones durante 12 meses. Debido a la pandemia de COVID-19, el porcentaje de asistencia a los módulos DiabetIMSS disminuyó importantemente. Es así como la Dirección de Prestaciones Médicas consideró necesario su fortalecimiento, por lo que surgen los Centros de Atención a la Diabetes (CADIMSS). Además de proporcionar atención médico-asistencial con enfoque integral y multidisciplinario, en los CADIMSS se fomenta la corresponsabilidad del paciente y su familia, y se otorga consulta médica mensual y sesiones educativas a cargo de personal de enfermería durante 6 meses. Sin embargo, siguen tareas pendientes, y aún hay áreas de oportunidad para modernizar y reorganizar los servicios que contribuyan a mejorar la salud de la población con diabetes.


Assuntos
COVID-19 , Diabetes Mellitus Tipo 2 , Humanos , Diabetes Mellitus Tipo 2/terapia , Diabetes Mellitus Tipo 2/complicações , Pandemias , Autocuidado , Medicina de Família e Comunidade
4.
Rev Med Inst Mex Seguro Soc ; 49(2): 163-70, 2011.
Artigo em Espanhol | MEDLINE | ID: mdl-21703143

RESUMO

A diagnosis test is carried out to establish the presence of health or illness. In the latter it could grade the severity. Due to its importance in clinical decisions, the diagnosis test is evaluated by mathematical strategies. We estimate the sensitivity and specificity once we know the existence or not of the disease, but we act in the reverse direction; with the presence "X" test positive or negative we estimate the presence of the disease, therefore, we use the positive and negative predictive values. Mathematical strategy allow us to quantify the observation, but it requires judgment to determine the quality making use of a minimum of features: a) selection under the same criteria for cases and controls; b) the inclusion of the full spectrum of disease severity (from mild to the most serious, ensuring that all levels have an enough number of subjects); c) the interpretation of both, the gold standard and the new tool of diagnosis, it must be blind and conducted by experts; d) the interpretation of results should show us what is their application in everyday clinical practice; e) the reproducibility must be checked. Do not forget that usually, we treat only one patient at once, what enforce us to have full knowledge of the performance of the diagnostic test, and to consider all clinical aspects for its proper implementation.


Assuntos
Técnicas e Procedimentos Diagnósticos/estatística & dados numéricos , Projetos de Pesquisa/estatística & dados numéricos , Humanos
5.
Rev Med Inst Mex Seguro Soc ; 49(3): 289-94, 2011.
Artigo em Espanhol | MEDLINE | ID: mdl-21838996

RESUMO

The need to solve a clinical problem leads us to establish a starting point to address (risk, prognosis or treatment studies), all these cases seek to attribute causality. Clinical reasoning described in the book Clinical Epidemiology. The architecture of clinical research, offers a simple guide to understanding this phenomenon. And proposes three basic components: baseline, maneuver and outcome. In this model, different systematic errors (bias) are described, which may be favored by omitting characteristics of the three basic components. Thus, omissions in the baseline characteristics cause an improper assembly of the population and susceptibility bias, omissions in the application or evaluation of the maneuver provoke performance bias, and omissions in the assessment of out-come cause detection bias and transfer bias. Importantly, if this way of thinking facilitates understanding of the causal phenomenon, the appropriateness of the variables to be selected in the studies to which attribute or not causality, require additional arguments for evaluate clinical relevance.


Assuntos
Causalidade , Pesquisa Biomédica/métodos , Pesquisa Biomédica/normas , Humanos
6.
Rev Med Inst Mex Seguro Soc ; 49(5): 551-62, 2011.
Artigo em Espanhol | MEDLINE | ID: mdl-22185860

RESUMO

OBJECTIVE: to develop a guideline available to the staff of the second and third level of medical care, that includes recommendations based on the best available evidence about diagnosis and management of diabetic retinopathy (DR). METHODS: clinical questions were formulated and structured. A standardized sequence was established to search for practice guidelines from the clinical questions raised on diagnosis and treatment of DR. The working group searched clinical practice guidelines and found eleven on this topic. For recommendations not included in the reference guide, the search process was conducted in PubMed and Cochrane Library. The results were expressed as levels of evidence and grade of recommendation. CONCLUSIONS: in Mexico diabetic retinopathy is a main cause of blindness in the active working population. It is necessary to establish a program for detection of at-risk population that allow make early diagnosis and opportune management for reducing blindness in patients. It is equally important to be aware of the need for long-term good metabolic control, which is associated with better quality of life.


Assuntos
Retinopatia Diabética/diagnóstico , Retinopatia Diabética/terapia , Algoritmos , Humanos
7.
Clin Nutr ESPEN ; 43: 206-211, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34024516

RESUMO

BACKGROUND & AIMS: The accuracy of estimating body composition compartments is critical in the clinical setting. Currently, there are different bioelectrical impedance analysis (BIA) devices available for obtaining raw BIA parameters. The aim of this study was to determine the level of agreement between multiple frequency (MF)-BIA and single frequency (SF)-BIA devices in obtaining raw BIA measurements (resistance (R), reactance (Xc), and phase angle (PhA)), as well as the agreement on the classification of hydration status and body cell mass by the bioelectrical impedance vector analysis (BIVA) method. METHODS: This cross-sectional study included 406 outpatients with stable chronic heart failure (HF). The raw BIA measurements at 50 kHz obtained by tetrapolar MF-BIA (Bodystat QuadScan 4000) were compared with those obtained by tetrapolar SF-BIA (RJL Quantum X). In addition, the patients were classified by their hydration status and body cell mass according to the BIVA method. RESULTS: Strong and significant correlations were observed between the two methods in all raw BIA variables (r ≥ 0.90). Lin's concordance correlation coefficient (CCC) values were almost perfect for R (CCC = 0.99; 95% CI 0.997 to 0.998), moderate for Xc (CCC = 0.93; 95% CI 0.92 to 0.94), and poor for PhA (CCC = 0.88; 95% CI 0.85 to 0.90). The agreement obtained in the two classifications (quadrants and hydration status) was >0.81. CONCLUSIONS: MF-BIA and SF-BIA demonstrated good agreement for measurement of the R parameter; however, the Xc and PhA parameters must be used carefully due to the previously reported variability. Likewise, the agreement in all classifications by the BIVA method was almost perfect.


Assuntos
Água Corporal , Insuficiência Cardíaca , Composição Corporal , Estudos Transversais , Impedância Elétrica , Insuficiência Cardíaca/diagnóstico , Humanos
8.
J Clin Endocrinol Metab ; 106(1): e112-e117, 2021 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-33045043

RESUMO

CONTEXT: Studies in mice and humans suggest that melanocortin-4 receptor (MC4R) deficiency affects body weight in a sex-/gender-dependent manner. However, similar evidence for type 2 diabetes (T2D) is scarce. OBJECTIVE AND DESIGN: We investigated whether sex/gender modifies the association between the loss-of-function MC4R p.Ile269Asn mutation and T2D in 6929 Mexican adults (3175 T2D cases and 3754 normal glucose tolerance [NGT] controls). The 2003 American Diabetes Association criteria were used to define NGT and T2D. The MC4R p.Ile269Asn mutation was genotyped in all participants using TaqMan technology. RESULTS: The MC4R p.Ile269Asn mutation was associated with T2D in 6929 Mexican adults (Ncontrols = 3754, Ncases = 3175, odds ratio [OR] = 2.00, 95% confidence interval [CI], 1.35-2.97; P = 5.7 × 10-4). The MC4R p.Ile269Asn mutation had a frequency of 0.86 and 1.05% in women with NGT and T2D, and 0.78 and 1.32% in men with NGT and T2D, respectively. We identified a significant interaction between the MC4R p.Ile269Asn mutation and sex/gender on T2D risk (P = 0.049). Although a strong association between the mutation and T2D was observed in men (Ncontrols = 2418, Ncases = 1807, OR = 2.63, 95% CI, 1.62-4.28, P = 9.3 × 10-5), results were not significant in women (Ncontrols = 1336, Ncases = 1368, OR = 1.16, 95% CI, 0.60-2.26, P = 0.65). Further adjustment for body mass index in the logistic regression model did not alter the sex-/gender-specific pattern of association (men: OR = 2.22, 95% CI, 1.34-3.67, P = 0.0019; women: OR = 1.02, 95% CI, 0.51-2.02, P = 0.95). CONCLUSION: This is the first report of a male-specific association between the MC4R p.Ile269Asn loss-of-function mutation and T2D in the Mexican population.


Assuntos
Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/genética , Receptor Tipo 4 de Melanocortina/genética , Adulto , Idoso , Substituição de Aminoácidos , Asparagina/genética , Estudos de Casos e Controles , Estudos Transversais , Modificador do Efeito Epidemiológico , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Isoleucina/genética , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Fatores de Risco , Fatores Sexuais
9.
Sci Rep ; 11(1): 3097, 2021 02 04.
Artigo em Inglês | MEDLINE | ID: mdl-33542413

RESUMO

We investigated the association between the loss-of-function mutation MC4R p.Ile269Asn and T2D risk in the Mexican population. We enrolled 6929 adults [3175 T2D cases and 3754 normal glucose tolerant (NGT) controls] and 994 NGT children in the study. Anthropometric data and T2D-related quantitative traits were studied in 994 NGT children and 3754 NGT adults. The MC4R p.Ile269Asn mutation was genotyped using TaqMan. The MC4R p.Ile269Asn mutation was associated with T2D [OR = 2.00, 95% confidence interval (CI) 1.35-2.97, p = 0.00057] in Mexican adults. Additional adjustment for body-mass index (BMI) attenuated but did not remove the association (OR = 1.70, 95% CI 1.13-2.56, p = 0.011). The MC4R p.Ile269Asn mutation was associated with T2D (OR = 1.88, 95% CI 1.14-3.08, p = 0.013) in a subset of 1269 T2D cases and 1269 NGT controls matched for sex, age, and BMI. A mediation analysis estimated that BMI accounts for 22.7% of the association between MC4R p.Ile269Asn mutation and T2D risk (p = 4.55 × 10-6). An association was observed between the MC4R p.Ile269Asn mutation and BMI in NGT children and adults (children: beta = 3.731 ± 0.958, p = 0.0001; adults: beta = 2.269 ± 0.536, p = 2.3 × 10-5). In contrast, the mutation was not associated with T2D-related quantitative traits. We demonstrate that the MC4R p.Ile269Asn mutation predisposes to T2D via obesity-dependent and independent effects in the Mexican population.


Assuntos
Diabetes Mellitus Tipo 2/genética , Predisposição Genética para Doença , Obesidade/genética , Receptor Tipo 4 de Melanocortina/genética , Adulto , Índice de Massa Corporal , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/patologia , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Obesidade/epidemiologia , Obesidade/patologia , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco
10.
Ann Med ; 53(1): 197-207, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-33345622

RESUMO

BACKGROUND: COVID-19 counts 46 million people infected and killed more than 1.2 million. Hypoxaemia is one of the main clinical manifestations, especially in severe cases. HIF1α is a master transcription factor involved in the cellular response to oxygen levels. The immunopathogenesis of this severe form of COVID-19 is poorly understood. METHODS: We performed scRNAseq from leukocytes from five critically ill COVID-19 patients and characterized the expression of hypoxia-inducible factor1α and its transcriptionally regulated genes. Also performed metanalysis from the publicly available RNAseq data from COVID-19 bronchoalveolar cells. RESULTS: Critically-ill COVID-19 patients show a shift towards an immature myeloid profile in peripheral blood cells, including band neutrophils, immature monocytes, metamyelocytes, monocyte-macrophages, monocytoid precursors, and promyelocytes-myelocytes, together with mature monocytes and segmented neutrophils. May be the result of a physiological response known as emergency myelopoiesis. These cellular subsets and bronchoalveolar cells express HIF1α and their transcriptional targets related to inflammation (CXCL8, CXCR1, CXCR2, and CXCR4); virus sensing, (TLR2 and TLR4); and metabolism (SLC2A3, PFKFB3, PGK1, GAPDH and SOD2). CONCLUSIONS: The up-regulation and participation of HIF1α in events such as inflammation, immunometabolism, and TLR make it a potential molecular marker for COVID-19 severity and, interestingly, could represent a potential target for molecular therapy. Key messages Critically ill COVID-19 patients show emergency myelopoiesis. HIF1α and its transcriptionally regulated genes are expressed in immature myeloid cells which could serve as molecular targets. HIF1α and its transcriptionally regulated genes is also expressed in lung cells from critically ill COVID-19 patients which may partially explain the hypoxia related events.


Assuntos
COVID-19/genética , Estado Terminal , Subunidade alfa do Fator 1 Induzível por Hipóxia/genética , Células Mieloides/metabolismo , Análise de Sequência de RNA/métodos , Feminino , Humanos , Masculino , RNA Mensageiro/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Regulação para Cima
11.
Nutrition ; 78: 110901, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32736300

RESUMO

OBJECTIVE: The aim of this study was to evaluate the association between glycemic control (hemoglobin (Hb) A1c <7%) and the dietary patterns identified in Mexican patients with type 2 diabetes mellitus (T2DM). METHODS: This was a secondary analysis conducted with 4838 patients with T2DM in Mexico. Biochemical blood profiles, socioeconomic level, anthropometric measurements, and dietary data were obtained. Dietary data from a food frequency questionnaire were used to derive dietary patterns. Factor analysis was conducted to ascertain dietary patterns, and multivariate analysis was fitted to assess the relationship between glycemic control and consumption of dietary patterns. RESULTS: Three dietary patterns were identified. After control for potential cofounders (age, sex, duration of T2DM, body mass index, pharmacologic treatment, intensity of physical activity, socioeconomic level, and kcal/kg ideal weight), we found that consuming a Western-style diet (odds ratio [OR], 1.533, 95% confidence interval [CI], 1.253-1.875; P < 0.000), and the sweets and dairy diet (fats and sugars; OR, 1.444; 95% CI, 1.133-1.841; P = 0.003) patterns were associated with HbA1c ≥7%, whereas consuming a healthy dietary patter (OR, 0.800; 95% CI, 0.642-0.998; P = 0.048) was associated with HbA1c <7%. CONCLUSIONS: Consuming a healthy diet was associated with glycemic control; whereas the Western-style or sweets and dairy patterns promoted a lack of metabolic control. These results support the promotion of a healthy pattern in the Mexican population with T2DM.


Assuntos
Diabetes Mellitus Tipo 2 , Índice de Massa Corporal , Dieta , Hemoglobinas Glicadas , Controle Glicêmico , Humanos , México
12.
J Clin Endocrinol Metab ; 105(7)2020 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-32309857

RESUMO

CONTEXT: Little is known about the association between haptoglobin level and cardiometabolic traits. A previous genome-wide association study identified rs2000999 in the HP gene as the stronger genetic contributor to serum haptoglobin level in European populations. OBJECTIVE AND DESIGN: We investigated the association of HP rs2000999 with serum haptoglobin and childhood and adult obesity in up to 540/697 and 592/691 Mexican cases and controls, respectively. Anthropometric and biochemical data were collected. Serum haptoglobin was measured by an immunoturbidimetry assay. HP rs2000999 was genotyped using the TaqMan technology. Mendelian randomization analysis was performed using the Wald and inverse variance weighting methods. RESULTS: Haptoglobin level was positively associated with childhood and adult obesity. HP rs2000999 G allele was positively associated with haptoglobin level in children and adults. HP rs2000999 G allele was positively associated with childhood but not adult obesity. The association between HP rs2000999 and childhood obesity was removed after adjusting for haptoglobin level. In a Mendelian randomization analysis, haptoglobin level genetically predicted by HP rs2000999 showed a significant causal effect on childhood obesity by the Wald and inverse variance weighting methods. CONCLUSION: Our data provide evidence for the first time for a causal positive association between serum haptoglobin level and childhood obesity in the Mexican population. Our study contributes to the genetic elucidation of childhood obesity and proposes haptoglobin as an important biomarker and treatment target for obesity.


Assuntos
Predisposição Genética para Doença , Haptoglobinas/genética , Obesidade Infantil/genética , Polimorfismo de Nucleotídeo Único , Alelos , Estudos de Casos e Controles , Criança , Feminino , Genótipo , Haptoglobinas/análise , Humanos , Masculino , Análise da Randomização Mendeliana , México , Obesidade Infantil/sangue
13.
J Clin Endocrinol Metab ; 105(4)2020 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-31841602

RESUMO

CONTEXT: Rare partial/complete loss-of-function mutations in the melanocortin-4 receptor (MC4R) gene are the most common cause of Mendelian obesity in European populations, but their contribution to obesity in the Mexican population is unclear. OBJECTIVE AND DESIGN: We investigated whether deleterious mutations in MC4R contribute to obesity in Mexican children and adults. RESULTS: We provide evidence that the MC4R p.Ile269Asn (rs79783591) mutation may have arisen in modern human populations from a founder event in native Mexicans. The MC4R Isoleucine 269 is perfectly conserved across 184 species, which suggests a critical role for the amino acid in MC4R activity. Four in silico tools (SIFT, PolyPhen-2, CADD, MutPred2) predicted a deleterious impact of the p.Ile269Asn substitution on MC4R function. The MC4R p.Ile269Asn mutation was associated with childhood (Ncontrols = 952, Ncases = 661, odds ratio (OR) = 3.06, 95% confidence interval (95%CI) [1.94-4.85]) and adult obesity (Ncontrols = 1445, Ncases = 2,487, OR = 2.58, 95%CI [1.52-4.39]). The frequency of the MC4R p.Ile269Asn mutation ranged from 0.52 to 0.59% and 1.53 to 1.59% in children and adults with normal weight and obesity, respectively. The MC4R p.Ile269Asn mutation co-segregated perfectly with obesity in 5 multigenerational Mexican pedigrees. While adults with obesity carrying the p.Ile269Asn mutation had higher BMI values than noncarriers, this trend was not observed in children. The MC4R p.Ile269Asn mutation accounted for a population attributable risk of 1.28% and 0.68% for childhood and adult obesity, respectively, in the Mexican population. CONCLUSION: The MC4R p.Ile269Asn mutation may have emerged as a founder mutation in native Mexicans and is associated with childhood and adult obesity in the modern Mexican population.


Assuntos
Biomarcadores/análise , Predisposição Genética para Doença , Mutação , Obesidade/epidemiologia , Obesidade/genética , Receptor Tipo 4 de Melanocortina/genética , Adulto , Índice de Massa Corporal , Criança , Feminino , Seguimentos , Genótipo , Humanos , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Obesidade/patologia , Linhagem , Fenótipo , Prognóstico
14.
Laryngoscope Investig Otolaryngol ; 5(6): 983-991, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33364386

RESUMO

OBJECTIVES: At the end of 2019, SARS-CoV-2 was identified, the one responsible for the COVID-19 disease. Between a 5.1% and a 98% of COVID-19 patients present some form of alteration in their sense of smell. The objective of this study is to determine the diagnostic yield of the smell dysfunction as screening tool for COVID-19. METHODS: Cross-sectional, observational, and pro-elective study was performed in a tertiary care hospital from May 25th to June 30th, 2020. One hundred and thirty-nine patients were included in the study. Demographic characteristics were collected from anamnesis. A Self-Perception Questionnaire and psychophysical olfactory test (POT) were applied to all participants. The presence of SARS-CoV2, was detected by RT-PCR methods. RESULTS: 51.7% of patients were SARS-CoV-2 positive. A sensitivity of 50% was obtained for the self-perception questionnaire as a screening tool for SARS-CoV2, with a specificity of 80.59%. The positive predictive value (PPV) was of 73.46%, the negative predictive value (NPV) was of 60%. The POT as a screening tool had a PPV of 82.35%, a NPV of 52.45%, a LR+ of 4.34, a LR- 0.84. The combination of anosmia (according to the POT) plus cough and asthenia got an OR of 8.25 for the SARS CoV-2 infection. CONCLUSION: There is a strong association between olfactory dysfunction and COVID-19. However, it is not really efficient in the screening of SARS-CoV-2 infection and thus, they should not be considered as a single diagnostic instrument. LEVEL OF EVIDENCE: 4.

15.
J Clin Pharmacol ; 59(10): 1384-1390, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31012983

RESUMO

The organic cation transporters OCT1 and OCT2 and the multidrug and toxin extrusion transporter MATE1, encoded by the SLC22A1, SLC22A2, and SLC47A1 genes, respectively, are responsible for the absorption of metformin in enterocytes, hepatocytes, and kidney cells. The aim of this study was to evaluate whether genetic variations in the SLC22A1, SLC22A2, and SLC47A1 genes could be associated with an altered response to metformin in patients with type 2 diabetes mellitus. A cohort study was conducted in 308 individuals with a diagnosis of type 2 diabetes mellitus of less than 3 years and who had metformin monotherapy. Three measurements of blood glycated hemoglobin (HbA1c ) were obtained at the beginning of the study and after 6 and 12 months. Five polymorphisms were analyzed in the SLC22A1 (rs622342, rs628031, rs594709), SLC22A2 (rs316019), and SLC47A1 (rs2289669) genes by real-time polymerase chain reaction. The results showed a significant association among genotypes CC-rs622342 (ß = 1.36; P < .001), AA-rs628031 (ß = 0.98; P = .032), and GG-rs594709 (ß = 1.21; P = .016) in the SLC22A1 gene with an increase in HbA1c levels during the follow-up period. Additionally, a significant association was found in the CGA and CAG haplotypes with an increase in HbA1c levels compared to the highest-frequency haplotype (AGA). In conclusion, the genetic variation in the SLC22A1 gene was significantly related to the variation of the HbA1c levels, an important indicator of glycemic control in diabetic patients. This information may contribute to identifying patients with an altered response to metformin before starting their therapy.


Assuntos
Glicemia/efeitos dos fármacos , Glicemia/genética , Diabetes Mellitus Tipo 2/tratamento farmacológico , Diabetes Mellitus Tipo 2/genética , Metformina/uso terapêutico , Fator 1 de Transcrição de Octâmero/genética , Polimorfismo de Nucleotídeo Único/genética , Idoso , Estudos de Coortes , Feminino , Genótipo , Hemoglobinas Glicadas/genética , Humanos , Hipoglicemiantes/uso terapêutico , Rim/efeitos dos fármacos , Masculino , Pessoa de Meia-Idade
16.
Nat Commun ; 10(1): 29, 2019 01 03.
Artigo em Inglês | MEDLINE | ID: mdl-30604766

RESUMO

Chronic kidney disease (CKD) affects ~10% of the global population, with considerable ethnic differences in prevalence and aetiology. We assemble genome-wide association studies of estimated glomerular filtration rate (eGFR), a measure of kidney function that defines CKD, in 312,468 individuals of diverse ancestry. We identify 127 distinct association signals with homogeneous effects on eGFR across ancestries and enrichment in genomic annotations including kidney-specific histone modifications. Fine-mapping reveals 40 high-confidence variants driving eGFR associations and highlights putative causal genes with cell-type specific expression in glomerulus, and in proximal and distal nephron. Mendelian randomisation supports causal effects of eGFR on overall and cause-specific CKD, kidney stone formation, diastolic blood pressure and hypertension. These results define novel molecular mechanisms and putative causal genes for eGFR, offering insight into clinical outcomes and routes to CKD treatment development.


Assuntos
Taxa de Filtração Glomerular/genética , Hipertensão/genética , Cálculos Renais/genética , Rim/fisiopatologia , Insuficiência Renal Crônica/genética , Adulto , Idoso , Pressão Sanguínea/genética , Etnicidade/genética , Feminino , Loci Gênicos/genética , Estudo de Associação Genômica Ampla , Código das Histonas/genética , Histonas/metabolismo , Humanos , Hipertensão/etnologia , Hipertensão/fisiopatologia , Cálculos Renais/etnologia , Cálculos Renais/fisiopatologia , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Insuficiência Renal Crônica/etnologia , Insuficiência Renal Crônica/fisiopatologia
17.
Rev Med Inst Mex Seguro Soc ; 45(3): 297-304, 2007.
Artigo em Espanhol | MEDLINE | ID: mdl-17692169

RESUMO

Management implies decision-making and economics deals with efficiency which means to obtain the best possible results with the available resources, and to compare such results with those that were foreseen. The economic evaluation comprises a set of techniques aimed at comparing resource allocation on alternate courses of action and its consequences. In health care, these results are the overall well-being of the society. This paper summarizes the techniques that are customarily used in economic evaluation, and intends to serve as an introductory text to increasing the ability of the readers to grasp original articles in the field of health economics.


Assuntos
Tomada de Decisões , Economia , Técnicas de Apoio para a Decisão , Árvores de Decisões
18.
Rev Med Inst Mex Seguro Soc ; 45(4): 353-60, 2007.
Artigo em Espanhol | MEDLINE | ID: mdl-17949573

RESUMO

OBJECTIVE: To evaluate the efficacy of a clinical practice guideline for treating type-2 diabetes patients in family medicine clinics. MATERIALS AND METHODS: Nonrandomized control trial that took place in two family medicine clinics. Patients with more than 10 years of being diabetic were included. The study comprised one intervention group and one control group. The intervention group was treated by family doctors previously trained to use the guideline, while the control group was treated by family doctors unaware of the clinical practice guideline. The clinical practice guideline identifies disease risk factors, classifies the disease, and indicates criteria for diagnosis, pharmacological treatment, monitoring and timely identification of acute complications. It also addresses patients' education regarding dietary and exercise recommendations. The study had three stages: baseline, intervention and post-intervention. STUDY OUTCOMES: the primary outcome was control of glycemia, determined by HbA1c levels. The criterion for control was an HbA1c value of 7% or below. Secondary outcomes were changes in lifestyle, body mass index, cholesterol and triglyceride levels. RESULTS: Of the 419 patients with type-2 diabetes included in the study, 340 (81%, 175 intervention group and 165 control group) completed the six-month follow-up. In the final evaluation, the mean HbA1c in the intervention group had decreased from 9 to 8.3%, while it increased from 8.9 to 9.5% in the control group (p < 0.001). The proportion of obese patients decreased in the intervention group but remained the same in the control group. CONCLUSION: The clinical practice guideline was effective in improving the HbA1c level and decreasing the proportion of obese patients.


Assuntos
Diabetes Mellitus Tipo 2/terapia , Guias de Prática Clínica como Assunto , Algoritmos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
19.
Rev Med Inst Mex Seguro Soc ; 54 Suppl 2: S140-7, 2016.
Artigo em Espanhol | MEDLINE | ID: mdl-27561017

RESUMO

BACKGROUND: The association between diabetes, hearing loss and depression is unknown, and needs to be understood clearly and precisely. Our objective was to estimate the association between depression and hearing loss in patients with type 2 diabetes. METHODS: Cross-sectional analytical study. Patients of 40 years or older with type 2 diabetes were studied. Anthropometric measurements and biochemical parameters were recorded. The Beck Depression Inventory and a pure tone audiometry were applied. Groups were compared with chi squared test and logistic regression for confounders. RESULTS: 150 patients were included (76 % women). Average age was 56 ± 9.3 years, with 12.4 ± 6.5 years of progression of diabetes, weight 67.4 ± 11.6 kg; 31 % were obese; 25.5 % hypertensive (126.3 ± 19.3 / 79.4 ± 19.7 mm Hg) and 80.7 % had poor metabolic control (HbA1c ≥ 7 %). Of all the patients, 45.3 % presented hearing loss and 32.4 % depression. Diagnosis of depression in patients with hearing loss remained significant after adjusting for confounders (odds ratio [OR] = 2.3; 95 % confidence interval [CI] = 1.051-5.333, p = 0.037). Women had greater risk of depression, difference that remained significant (OR = 3.2; 95 % CI = 1.268-8.584, p = 0.014) after adjustment. CONCLUSIONS: Almost half of the patients with diabetes presented hearing loss and more than three times the risk of depression. Subjects with depression and diabetes presented more hearing loss (> 20 dB) than those without diabetes and/or without depression.


Introducción: se desconoce y es necesario entender con mayor claridad y precisión cuál es la asociación entre la diabetes, la hipoacusia y la depresión. Nuestro objetivo fue estimar la asociación entre depresión e hipoacusia en pacientes con diabetes tipo 2 (DT2). Métodos: estudio transversal analítico. Se estudiaron pacientes con DT2 mayores de 40 años. Se registraron medidas antropométricas y parámetros bioquímicos. Se aplicó el cuestionario de depresión de Beck y un estudio audiológico tonal. Se compararon los grupos con chi cuadrada y regresión logística. Resultados: se incluyeron 150 pacientes (76 % mujeres). El promedio de edad fue de 56 ± 9.3 años, con 12.4 ± 6.5 años de evolución de diabetes, con peso de 67.4 ± 11.6kg; fueron obesos el 31 %; 25.5 % hipertensos (126.3 ± 19.3/79.4 ± 19.7 mm Hg) y el 80.7 % presentó descontrol metabólico (HbA1c ≥ 7 %). El 45.3 % presentó hipoacusia y el 32.4 % depresión. El diagnóstico de depresión en pacientes con hipoacusia permaneció significativo después de ajustar para conseguir confusores (razón de momios [RM] = 2.3; intervalo de confianza [IC] al 95 % 1.051-5.333, p = 0.037). Las mujeres tuvieron mayor riesgo de padecer depresión, diferencia que permaneció significativa al ajustarse (RM = 3.2; IC 95 % 1.268-8.584, p = 0.014). Conclusiones: casi la mitad de los pacientes con diabetes presentaron hipoacusia y más de tres veces el riesgo de depresión. Los sujetos con depresión y diabetes mostraron mayor hipoacusia (> 20 dB) que aquellos sin diabetes o sin depresión.


Assuntos
Depressão/etiologia , Diabetes Mellitus Tipo 2/complicações , Perda Auditiva/complicações , Adulto , Idoso , Estudos Transversais , Depressão/diagnóstico , Depressão/epidemiologia , Diabetes Mellitus Tipo 2/psicologia , Feminino , Perda Auditiva/psicologia , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Fatores Sexuais
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