RESUMO
The clinical phenotype of LMNA-associated dilated cardiomyopathy (DCM) varies even among individuals who share the same mutation. LMNA encodes lamin AC, which interacts with the lamin-associated protein 2 alpha (LAP2α) encoded by the TMPO gene. The LAP2α/Arg690Cys polymorphism is frequent in Latin America and was previously found to disrupt LAP2α-Lamin AC interactions in vitro. We identified a DCM patient heterozygous for both a lamin AC truncating mutation (Ser431*) and the LAP2α/Arg690Cys polymorphism. We performed protein modeling and docking experiments, and used confocal microscopy to compare leukocyte nuclear morphology among family members with different genotype combinations (wild type, LAP2α Arg690Cys heterozygous, lamin AC/Ser431* heterozygous, and LAP2α Arg690Cys/lamin AC Ser431* double heterozygous). Protein modeling predicted that 690Cys destabilizes the LAP2α homodimer and impairs lamin AC-LAP2α docking. Lamin AC-deficient nuclei (Ser431* heterozygous) showed characteristic blebs and invaginations, significantly decreased nuclear area, and increased elongation, while LAP2α/Arg690Cys heterozygous nuclei showed a lower perimeter and higher circularity than wild-type nuclei. LAP2α Arg690Cys apparently attenuated the effect of LMNA Ser431* on the nuclear area and fully compensated for its effect on nuclear circularity. Altogether, the data suggest that LAP2α/Arg690Cys may be one of the many factors contributing to phenotype variation of LMNA-associated DCM.
Assuntos
Cardiomiopatia Dilatada , Timopoietinas , Humanos , Cardiomiopatia Dilatada/genética , Cardiomiopatia Dilatada/metabolismo , Lamina Tipo A/metabolismo , Leucócitos/metabolismo , Mutação , Mutação de Sentido Incorreto , Proteínas Nucleares/genéticaRESUMO
Fanconi anemia (FA) is a rare genetic disorder caused by pathogenic variants (PV) in at least 22 genes, which cooperate in the Fanconi anemia/Breast Cancer (FA/BRCA) pathway to maintain genome stability. PV in FANCA, FANCC, and FANCG account for most cases (~90%). This study evaluated the chromosomal, molecular, and physical phenotypic findings of a novel founder FANCG PV, identified in three patients with FA from the Mixe community of Oaxaca, Mexico. All patients presented chromosomal instability and a homozygous PV, FANCG: c.511-3_511-2delCA, identified by next-generation sequencing analysis. Bioinformatic predictions suggest that this deletion disrupts a splice acceptor site promoting the exon 5 skipping. Analysis of Cytoscan 750 K arrays for haplotyping and global ancestry supported the Mexican origin and founder effect of the variant, reaffirming the high frequency of founder PV in FANCG. The degree of bone marrow failure and physical findings (described through the acronyms VACTERL-H and PHENOS) were used to depict the phenotype of the patients. Despite having a similar frequency of chromosomal aberrations and genetic constitution, the phenotype showed a wide spectrum of severity. The identification of a founder PV could help for a systematic and accurate genetic screening of patients with FA suspicion in this population.
Assuntos
Anemia de Fanconi , Biologia Computacional , Anemia de Fanconi/genética , Anemia de Fanconi/metabolismo , Proteína do Grupo de Complementação G da Anemia de Fanconi/genética , Efeito Fundador , Homozigoto , Humanos , MéxicoRESUMO
Hidradenitis suppurativa is a chronic inflammatory disease of the hair follicle characterized by recurrent painful and inflamed lesions, predominantly affecting intertriginous regions. Due to its physical sequelae and impact on quality of life, we should be familiarized with this disease to make an appropriate diagnosis and implement an early treatment. This executive summary of the clinical guideline, elaborated by the hidradenitis suppurativa workgroup of the Chilean Society of Dermatology and Venereology (SOCHIDERM), reviews its definition, epidemiology, pathophysiology, risk factors, comorbidities, psycho-emotional impact, clinical presentation, diagnosis, classifications, ultrasonographic evaluation, and its medical and surgical treatments. Finally, a therapeutic approach algorithm is proposed.
Assuntos
Humanos , Hidradenite Supurativa/tratamento farmacológico , Hidradenite Supurativa/terapia , Qualidade de Vida , Comorbidade , Chile , Fatores de RiscoRESUMO
Wheat bran incorporation into biscuits may increase their nutritional value, however, it may affect dough rheology and baking performance, due to the effect of bran particles on dough structure and an increase in water absorption. This study analyzed the enrichment effect of wheat bran and arabinoxylans, the most important non-starch polysaccharides found in whole wheat flour, on dough rheology and thermal behaviour during processing of rotary-moulded biscuits. The objective was to understand the contribution of arabinoxylans during biscuit-making and their impact when incorporated as wheat bran. Refined flour was replaced at 25, 50, 75, or 100% by whole flour with different bran particle sizes (fine: 4% > 500 µm; coarse: 72% > 500 µm). The isolated effect of arabinoxylans was examined by preparing model flours, where refined flour was enriched with water-extractable and water-unextractable arabinoxylans. Wheat bran had the greatest impact on dough firmness and arabinoxylans had the greatest impact on the elastic response. The degree of starch gelatinization increased from 24 to 36% in biscuits enriched with arabinoxylans or whole flour and coarse bran. The microstructural analysis (SEM, micro-CT) suggested that fibre micropores may retain water inside their capillaries which can be released in a controlled manner during baking.
RESUMO
Neuromyelitis Optica Spectrum Disorder (NMOSD) is a demyelinating autoimmune disease of the central nervous system, more prevalent in individuals of non-European ancestry. Few studies have analyzed genetic risk factors in NMOSD, and HLA class II gene variation has been associated NMOSD risk in various populations including Mexicans. Thymopoietin (TMPO) has not been tested as a candidate gene for NMOSD or other autoimmune disease, however, experimental evidence suggests this gene may be involved in negative selection of autoreactive T cells and autoimmunity. We thus investigated whether the missense TMPO variant rs17028450 (Arg630Cys, frequent in Latin America) is associated with NMOSD, and whether this variant shows an interaction with HLA-class II rs9272219, previously associated with NMOSD risk. A total of 119 Mexican NMOSD patients, 1208 controls and 357 Native Mexican individuals were included. The HLA rs9272219 "T" risk allele frequency ranged from 21 to 68%, while the rs17028450 "T" minor allele frequency was as high as 18% in Native Mexican groups. Both rs9272219 and rs17028450 were significantly associated with NMOSD risk under additive models (OR = 2.48; p = 8 × 10-10 and OR = 1.59; p = 0.0075, respectively), and a significant interaction between both variants was identified with logistic regression models (p = 0.048). Individuals bearing both risk alleles had an estimated 3.9-fold increased risk of NMOSD. To our knowledge, this is the first study reporting an association of TMPO gene variation with an autoimmune disorder and the interaction of specific susceptibility gene variants, that may contribute to the genetic architecture of NMOSD in admixed Latin American populations.
RESUMO
Hidradenitis suppurativa is a chronic inflammatory disease of the hair follicle characterized by recurrent painful and inflamed lesions, predominantly affecting intertriginous regions. Due to its physical sequelae and impact on quality of life, we should be familiarized with this disease to make an appropriate diagnosis and implement an early treatment. This executive summary of the clinical guideline, elaborated by the hidradenitis suppurativa workgroup of the Chilean Society of Dermatology and Venereology (SOCHIDERM), reviews its definition, epidemiology, pathophysiology, risk factors, comorbidities, psycho-emotional impact, clinical presentation, diagnosis, classifications, ultrasonographic evaluation, and its medical and surgical treatments. Finally, a therapeutic approach algorithm is proposed.
Assuntos
Hidradenite Supurativa , Chile , Comorbidade , Hidradenite Supurativa/tratamento farmacológico , Hidradenite Supurativa/terapia , Humanos , Qualidade de Vida , Fatores de RiscoRESUMO
BACKGROUND: Dilated cardiomyopathy (DCM) is a major cause of nonischemic heart failure and death in young adults. Next generation sequencing (NGS) has become part of the diagnostic workup in idiopathic and familial DCM. More than 50 DCM genes have been identified, revealing great molecular heterogeneity and variable diagnostic yield. Interpretation of variant pathogenicity is challenging particularly in underrepresented populations, as pathogenic variant databases include studies mainly from European/Caucasian populations. To date, no studies on genomic diagnosis of DCM have been conducted in Mexico. METHODS: We recruited 55 unrelated DCM patients, 22 familial (F-DCM), and 33 idiopathic (I-DCM), and performed site-directed NGS seeking causal mutations. Diagnostic yield was defined as the proportion of individuals with at least one pathogenic (P) or likely pathogenic (LP) variant in DCM genes. RESULTS: Overall diagnostic yield was 47.3%, and higher in F-DCM (63.6%) than in I-DCM (36.4%, p = 0.047). Overall, NGS disclosed 41 variants of clinical interest (61.0% novel), 27 were classified as P/LP and 14 of unknown clinical significance. Of P/LP variants, 10 were A-band region TTN truncating variants, five were found in DSP (18.5%), five in MYH7 (18.5%), two in LMNA (7.4%), and one in RBM20, ABCC9, FKTN, ACTA1, and TNNT2. NGS findings suggested autosomal recessive inheritance in three families, two with DSP loss of function mutations in affected individuals. The increasing number of mutation reports in DCM, increasing knowledge on the functional consequences of mutations, mutational hotspots and functional domains of DCM-related proteins, the recent refinement ACMG/ClinGen Guidelines, and co-segregation analysis in DCM families helped increase the diagnostic yield. CONCLUSION: This is the first NGS study performed in a group of Mexican DCM patients, contributing to understand the mutational spectrum and complexity of DCM molecular diagnosis.
Assuntos
Cardiomiopatia Dilatada/genética , Frequência do Gene , Adolescente , Adulto , Miosinas Cardíacas/genética , Conectina/genética , Desmoplaquinas/genética , Feminino , Testes Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lamina Tipo A/genética , Masculino , México , Cadeias Pesadas de Miosina/genética , Análise de Sequência de DNARESUMO
Neuromyelitis Optica (NMO) is an autoimmune disease with a higher prevalence in non-European populations. Because the Mexican population resulted from the admixture between mainly Native American and European populations, we used genome-wide microarray, HLA high-resolution typing and AQP4 gene sequencing data to analyze genetic ancestry and to seek genetic variants conferring NMO susceptibility in admixed Mexican patients. A total of 164 Mexican NMO patients and 1,208 controls were included. On average, NMO patients had a higher proportion of Native American ancestry than controls (68.1% vs 58.6%; p = 5 × 10-6). GWAS identified a HLA region associated with NMO, led by rs9272219 (OR = 2.48, P = 8 × 10-10). Class II HLA alleles HLA-DQB1*03:01, -DRB1*08:02, -DRB1*16:02, -DRB1*14:06 and -DQB1*04:02 showed the most significant associations with NMO risk. Local ancestry estimates suggest that all the NMO-associated alleles within the HLA region are of Native American origin. No novel or missense variants in the AQP4 gene were found in Mexican patients with NMO or multiple sclerosis. To our knowledge, this is the first study supporting the notion that Native American ancestry significantly contributes to NMO susceptibility in an admixed population, and is consistent with differences in NMO epidemiology in Mexico and Latin America.
Assuntos
Indígena Americano ou Nativo do Alasca/genética , Aquaporina 4/genética , Predisposição Genética para Doença , Antígenos HLA/genética , Neuromielite Óptica/epidemiologia , Neuromielite Óptica/genética , Estudos de Casos e Controles , Feminino , Frequência do Gene , Humanos , Masculino , México/epidemiologiaRESUMO
La hidradenitis supurativa es una enfermedad inflamatoria crónica del folículo piloso que se caracteriza por la aparición recurrente de lesiones inflamatorias dolorosas y profundas predominantemente en pliegues. Debido a sus secuelas físicas y en la calidad de vida, debemos estar familiarizados con esta enfermedad, a fin de poder realizar un diagnóstico oportuno e implementar un tratamiento precoz. Esta guía clínica, elaborada por el grupo de trabajo de hidradenitis supurativa de la Sociedad Chilena de Dermatología y Venereología (SOCHIDERM), revisa su definición, epidemiología, fisiopatogenia, factores de riesgo, comorbilidades, impacto psicoemocional, presentación clínica, diagnóstico, clasificaciones, evaluación ecográfica, y tratamientos médico y quirúrgico. Finalmente se propone un algoritmo de enfrentamiento terapéutico.
Hidradenitis suppurativa is a chronic inflammatory disease of the hair follicle characterized by recurrent painful and inflamed lesions, predominantly affecting intertriginous regions. Due to its physical sequelae and impact on life quality, we should be familiarized with this disease to make an appropriate diagnosis and implement an early treatment. This clinical guideline, elaborated by the hidradenitis suppurativa workgroup of the Chilean Society of Dermatology and Venereology (SOCHIDERM), review its definition, epidemiology, pathophysiology, risk factors, comorbidities, psycho-emotional impact, clinical presentation, diagnosis, classifications, ultrasonographic evaluation, and its medical and surgical treatments. Finally, a therapeutic approach algorithm is proposed.
Assuntos
Humanos , Hidradenite Supurativa/diagnóstico , Hidradenite Supurativa/terapia , Algoritmos , Chile , Fatores de Risco , Hidradenite Supurativa/classificação , Hidradenite Supurativa/complicações , Diagnóstico DiferencialRESUMO
Esta investigación recupera los hechos y circunstancias históricas que envolvieron el boxeo desde su origen en las estructuras federativas españolas hasta la participación española en los Juegos Olímpicos de Tokio en 1964. Este trabajo historiográfico utilizó el análisis documental y la entrevista semiestructurada para recuperar y contrastar información de archivos institucionales, personales y hemerográficos, rescatando contenidos inéditos del archivo personal y de la entrevista a un boxeador participante en Tokio-64. Madrid y Barcelona impulsaron la práctica pugilística en España en las primeras décadas del siglo XIX. La llegada de púgiles extranjeros propició la estructuración y regulación del boxeo y, como resultado, en 1922 se fundó la Federación Española de Boxeo, que formó parte de las estructuras olímpicas. La Guerra Civil española supuso un receso, pero en los años 60 surgió una generación de boxeadores que, a pesar de precarias circunstancias, lograron asistir a los Juegos Olímpicos y pródigas victorias posteriores.
Esta investigação recupera os factos e circunstâncias históricas que envolveram o boxe desde a sua origem nas estruturas federativas espanholas até a participação espanhola nos Jogos Olímpicos de Tóquio, em 1964. Este trabalho historiográfico utilizou análise documental e entrevistas semiestruturadas para recuperar e contrastar informações dos arquivos institucionais, pessoais e jornalísticos, recolhendo informação inédita do arquivo pessoal e da entrevista de um boxeador participante em Tóquio-64. Madrid e Barcelona promoveram a prática pugilística na Espanha nas primeiras décadas do século XIX. A chegada dos boxeadores estrangeiros levou à estruturação e à regulamentação do boxe e, em consequência, em 1922, foi fundada a Federação Espanhola de Boxe, que passou a fazer parte das estruturas olímpicas. A Guerra Civil espanhola significou uma pausa, mas nos anos 1960 surgiu uma geração de boxeadores que, apesar das circunstâncias precárias, conseguiram comparecer aos Jogos Olímpicos e ter muitas vitórias subsequentes.
This research revisits the historical facts and circumstances that involved boxing from its origin in the Spanish federative structures to Spain's participation in the 1964 Tokyo Olympic Games. This historiographic study used documentary analysis and semi-structured interviews to revisit and contrast information from institutional, personal and newspaper archives, gathering unpublished content from the personal archive and from the interview with a boxer who participated in Tokyo '64. Madrid and Barcelona promoted pugilistic practice in Spain in the first decades of the nineteenth century. The arrival of foreign fighters favored the structuring and regulation of boxing and, as a result, in 1922 the Spanish Boxing Federation was founded and became part of the Olympic structures. The Spanish Civil War was a setback, but in the 1960s a generation of boxers emerged who, despite precarious circumstances, managed to attend the Olympic Games and win many subsequent victories.
Assuntos
Humanos , Masculino , Feminino , Esportes/história , Boxe/história , PesquisaRESUMO
Risk of hyperuricemia is modified by genetic and environmental factors. Our aim was to identify factors associated with serum uric acid levels and hyperuricemia in Mexicans. A pilot Genome-wide association study GWAS was performed in a subgroup of participants (n = 411) from the Health Workers Cohort Study (HWCS). Single nucleotide polymorphisms (SNPs) associated with serum uric acid levels were validated in all the HWCS participants (n = 1939) and replicated in independent children (n = 1080) and adult (n = 1073) case-control studies. The meta-analysis of the whole HWCS and replication samples identified three SLC2A9 SNPs: rs1014290 (p = 2.3 × 10-64), rs3775948 (p = 8.2 × 10-64) and rs11722228 (p = 1.1 × 10-17); and an ABCG2 missense SNP, rs2231142 (p = 1.0 × 10-18). Among the non-genetic factors identified, the visceral adiposity index, smoking, the metabolic syndrome and its components (waist circumference, blood pressure, glucose and hyperlipidemia) were associated with increased serum uric acid levels and hyperuricemia (p < 0.05). Among the female HWCS participants, the odds ratio for hyperuricemia was 1.24 (95% CI, 1.01-1.53) per unit increase in soft drink consumption. As reported in other studies, our findings indicate that diet, adiposity and genetic variation contribute to the elevated prevalence of hyperuricemia in Mexico.
Assuntos
Hiperuricemia , Ácido Úrico/sangue , Membro 2 da Subfamília G de Transportadores de Cassetes de Ligação de ATP/genética , Adolescente , Adulto , Criança , Feminino , Estudo de Associação Genômica Ampla , Proteínas Facilitadoras de Transporte de Glucose/genética , Humanos , Hiperuricemia/sangue , Hiperuricemia/epidemiologia , Hiperuricemia/genética , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Proteínas de Neoplasias/genética , Polimorfismo de Nucleotídeo Único/genética , Adulto JovemRESUMO
Host gene variants selected by diet adaptation have been associated with the microbiome. Poole et al. (Cell Host Microbe 2019;25;553-564.E7) reported that AMY1 copy number, associated with obesity, also impacts microbiome composition and function. Complex genetics-diet-microbiome interactions and their effect on obesity could eventually translate into personalized nutrition.
Assuntos
Microbioma Gastrointestinal , Microbiota , Amilases , Variações do Número de Cópias de DNA , Dieta , Dosagem de Genes , Humanos , alfa-Amilases SalivaresRESUMO
While the effect of exercise on white adipose tissue browning and metabolic improvement in rodents is clear, there are few studies in humans with inconclusive results. Thus, the aim of the study was to assess whether an exercise intervention promotes subcutaneous adipose tissue browning in humans, and whether this response is associated with metabolic improvement in three groups of individuals defined by body mass index (BMI) (kg/m2). Sedentary adult subjects with different BMI were enrolled in a 12-week bicycle-training program (3 times per week, intensity 70-80% HRmax). Brown and beige gene expression in subcutaneous adipose tissue (scWAT) biopsies, and serum glucose, insulin, lipid, adipokine, and myokine levels were compared before and after the exercise intervention. Thirty-three non-diabetic subjects (mean age 30.4 ± 4.6 years; 57.57% female; 13 normal weight, 10 overweight and 10 with obesity) completed the exercise intervention. Without any significant change in body composition, exercise improved several metabolic parameters, most notably insulin resistance and particularly in the overweight group. Circulating adiponectin, apelin, and irisin exercise-induced changes predicted 60% of the insulin sensitivity improvement. After exercise UCP1, TBX1, CPT1B scWAT expression significantly increased, along with P2RX5 significant positive staining. These changes are compatible with scWAT browning, however, they were not associated with glucose metabolism improvement. In conclusion, 12-weeks of exercise training produced brown/beige gene expression changes in abdominal scWAT of non-diabetic individuals with different BMI, which did not contribute to the metabolic improvement. However, this result should not be interpreted as a lack of effect of browning on metabolic parameters. These findings suggest that a bigger effect is needed and should not preclude the development of more effective strategies of browning. Furthermore, exercise-induced changes in adiponectin, apelin, and irisin predicted insulin sensitivity improvement, supporting the important role of adipokines and myokines in metabolism homeostasis.
RESUMO
Sudden death in a child is a devastating event with important medical implications for surviving relatives. Because it may be the first manifestation of unknown inherited cardiac disease, molecular autopsy can be helpful to determine the cause of death and identify at risk family members. The aim of the study was to perform a molecular autopsy in a seven year-old girl with sudden unexplained death, to find evidence supporting the possible pathogenicity of mutations identified in inherited cardiac disease genes, and to clinically and genetically assess first-degree relatives. DNA from the index case was extracted from umbilical cord cells stored at birth, and DNA of first-degree relatives from blood samples. Targeted sequencing was performed using a Haloplex design including 81 cardiogenes. Possible functional consequences of the mutations were analyzed using protein modeling and structural mobility analyses. The child was compound heterozygous for KCNQ1 variants p.Ala300Thr and p.Pro535Thr. Ala300Thr is known to cause long QT syndrome in the homozygous state, while Pro535Thr is novel and of unknown clinical significance. The father and sibling were Ala300Thr heterozygous, and had normal QTc intervals at rest and during exercise. The asymptomatic mother was heterozygous for Pro535Thr, and showed borderline QTc at rest, but prolonged QTc during exercise. Protein modeling predicted that Ala300Thr alters the mobility profile of the Kv7.1 tetramer and Thr535 disrupts a calmodulin-binding site, probably causing co-assembly or trafficking defects of the mutant monomer. Altogether, the evidence strongly suggests that this child was affected with a recessive form of Romano Ward syndrome.
Assuntos
Morte Súbita Cardíaca , Canal de Potássio KCNQ1/química , Canal de Potássio KCNQ1/genética , Síndrome de Romano-Ward/genética , Criança , Análise Mutacional de DNA , Feminino , Heterozigoto , Humanos , Modelos Moleculares , Linhagem , Mutação Puntual , Síndrome de Romano-Ward/fisiopatologiaRESUMO
BACKGROUND: The aim of this study was to explore whether interactions between FTO rs9939609 and ABCA1 rs9282541 affect BMI and waist circumference (WC), and could explain previously reported population differences in FTO-obesity and FTO-BMI associations in the Mexican and European populations. METHODS: A total of 3938 adults and 636 school-aged children from Central Mexico were genotyped for both polymorphisms. Subcutaneous and visceral adipose tissue biopsies from 22 class III obesity patients were analyzed for FTO and ABCA1 mRNA expression. Generalized linear models were used to test for associations and gene-gene interactions affecting BMI, WC and FTO expression. RESULTS: FTO and ABCA1 risk alleles were not individually associated with higher BMI or WC. However, in the absence of the ABCA1 risk allele, the FTO risk variant was significantly associated with higher BMI (P = 0.043) and marginally associated with higher WC (P = 0.067), as reported in Europeans. The gene-gene interaction affecting BMI and WC was statistically significant only in adults. FTO mRNA expression in subcutaneous abdominal adipose tissue according to ABCA1 genotype was consistent with these findings. CONCLUSIONS: This is the first report showing evidence of FTO and ABCA1 gene variant interactions affecting BMI, which may explain previously reported population differences. Further studies are needed to confirm this interaction.
Assuntos
Transportador 1 de Cassete de Ligação de ATP/genética , Dioxigenase FTO Dependente de alfa-Cetoglutarato/genética , Índice de Massa Corporal , Epistasia Genética , Indígenas Norte-Americanos/genética , Adulto , Criança , Feminino , Humanos , Masculino , MéxicoRESUMO
Hidradenitis suppurativa (HS) can affect children, and ultrasound has been proven to be useful in diagnosis and staging. The sonographic characteristics of HS in children have not been reported. We studied color Doppler ultrasound images of children (≤15 years old; n = 12) with clinically and sonographically positive criteria for HS. Sonographic scoring of hidradenitis suppurativa (SOS-HS) was used to stage the cases sonographically. Subclinical pseudocysts were found in 92% of the cases, fluid collections in 83%, and fistulous tracts in 58%. Retained hair tracts in the fluid collections and fistulous tracts were present in 100% of patients; 67% of cases were SOS-HS stage II. In 92% of cases, management was modified after the ultrasound examination. In conclusion, ultrasound can be a reliable and safe imaging tool to support diagnosis and staging and may help in the noninvasive monitoring of treatment in children.
Assuntos
Hidradenite Supurativa/diagnóstico por imagem , Ultrassonografia Doppler em Cores/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pediatria , Estudos Retrospectivos , Índice de Gravidade de DoençaRESUMO
BACKGROUND: Serum magnesium is inversely associated to coronary artery calcification (CAC) in patients with chronic kidney disease. There is little information on this association in a general healthy population. OBJECTIVE: The aim of this study was to examine the cross-sectional association of serum magnesium levels with CAC. METHODS: We included 1276 Mexican-mestizo subjects (50 % women), aged 30-75 years, free of symptomatic cardiovascular disease. CAC was quantified by multidetector computed tomography using the method described by Agatston. Cross-sectional associations of serum magnesium with cardiometabolic factors and subclinical atherosclerosis defined as a CAC score > 0, were examined in logistic regression models adjusted for age, sex, education, smoking status, body mass index, systolic blood pressure, physical activity, elevated abdominal visceral tissue, fasting insulin and glucose, alcohol consumption, menopausal status (women only), low (LDL-C) and high density lipoprotein cholesterol (HDL-C), triglycerides, diuretic use, type 2 diabetes mellitus (DM2), and family history of DM2. RESULTS: After full adjustment, subjects in the highest quartile of serum magnesium had 48 % lower odds of hypertension (p = 0.028), 69 % lower odds of DM2 (p = 0.003), and 42 % lower odds of CAC score > 0 (p = 0.016) compared to those with the lowest serum magnesium. The analyses also showed that a 0.17 mg/dL (1SD) increment in serum magnesium was independently associated with 16 % lower CAC (OR 0.84, 95 % CI 0.724-0.986). CONCLUSIONS: In a sample of Mexican-mestizo subjects, low serum magnesium was independently associated to higher prevalence not only of hypertension and DM2, but also to coronary artery calcification, which is a marker of atherosclerosis and a predictor of cardiovascular morbidity and mortality.
Assuntos
Calcinose/patologia , Doença da Artéria Coronariana/diagnóstico , Doença da Artéria Coronariana/epidemiologia , Vasos Coronários/patologia , Diabetes Mellitus Tipo 2/epidemiologia , Hipertensão/epidemiologia , Magnésio/sangue , Adulto , Idoso , Consumo de Bebidas Alcoólicas , Biomarcadores/sangue , Glicemia/metabolismo , Pressão Sanguínea , Índice de Massa Corporal , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Doença da Artéria Coronariana/sangue , Estudos Transversais , Feminino , Humanos , Hipertensão/sangue , Insulina/sangue , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Morbidade , Atividade Motora , Tomografia Computadorizada Multidetectores , Prevalência , Insuficiência Renal Crônica/sangue , Fatores de Risco , Triglicerídeos/sangueRESUMO
La demodicosis es una patología cutánea crónica caracterizada por lesiones eritemato-maculares pruriginosas, cuyo agente causal son ácaros foliculares del género Demodex. Presenta un abanico amplio y polimorfo de manifestaciones clínicas, donde la sospecha clínica se presentará frente a una erupción facial crónica persistente o recurrente, resistente a terapia convencional y de distribución asimétrica. El diagnóstico definitivo es difícil, y requiere un cuadro clínico compatible y la presencia de alta densidad de Demodex. El siguiente documento hace una revisión de conceptos con respecto a la patogenia, clínica, diagnóstico y tratamiento de esta entidad.
Demodicosis is a chronic skin condition characterized by itchy erythematous macular lesions whose causal agents are gender follicular Demodex mites. This entity presents a wide and polymorphous range of clinical manifestations, in which clinical suspicion appears in case of persistent or recurrent chronic facial rash, resistant to conventional therapy and with an asymmetric distribution. The definitive diagnosis is hard to reach, and requires a compatible clinical picture and a high density of Demodex. The following document is a review of concepts regarding pathogenesis, symptoms, diagnosis and treatment of this disease.
Assuntos
Humanos , Masculino , Feminino , Dermatopatias Parasitárias/patologia , Eritema/patologia , Infestações por Ácaros/patologia , Dermatopatias Parasitárias/terapia , Doença Crônica , Eritema/terapia , Foliculite/parasitologia , Infestações por Ácaros/diagnóstico , Infestações por Ácaros/terapia , Ácaros/parasitologiaRESUMO
El estudio explora el contraste intergeneracional entre valores personales en estudiantes y profesionales de enfermería y su ajuste a las predicciones de la teoría del cambio de valores. La muestra estuvo formada por 369 estudiantes y profesionales de enfermería distribuidos en tres grupos: estudiantes (n = 150), profesionales menores de 40 años (n = 114), y profesionales entre 41 y 60 años (n = 105). Los participantes informaron de sus valores en orden de prioridad en un cuestionario abierto. Los informes se organizaron en categorías de valores para analizar las diferencias entre grupos. Se encuentran dos tendencias en el informe de valores personales, que se ajustan en algunos casos a lo predicho por la teoría del cambio de valores y, en otros casos, la contradicen. Se discute la importancia de estos hallazgos y la necesidad de potenciar una formación orientada hacia los valores de la profesión de enfermería. El estudio contribuye al conocimiento del cambio de valores personales en profesionales de enfermería.
The study explores the generational contrast between personal values in students and nurses and their adjustment to the predictions of the theory of changing values. The sample was comprised of 369 students and nurses who were divided into three groups: students (n = 150), nurses under age 40 (n = 114), and nurses between 41 and 60 years of age (n = 105). The participants reported their values on an open questionnaire, in order of priority. The reports were organized into value categories to analyze the differences between groups. Two trends were found in the report on personal values: in some cases, they fit what is predicted by the theory of changing values; in others, they contradict it. The importance of these findings and the need to empower training oriented towards the values of the nursing profession is discussed. The study contributes to what we know about the change in personal values among nursing professionals.
Este estudo explora o contraste intergeracional entre valores pessoais em estudantes e profissionais de enfermagem e seu ajuste às predições da teoria da mudança de valores. A amostra esteve conformada por 369 estudantes e profissionais de enfermagem distribuídos em três grupos: estudantes (n = 150), profissionais menores de 40 anos (n = 114) e profissionais entre 41 e 60 anos (n = 105). Os participantes informaram sobre seus valores em ordem de prioridade num questionário aberto. Os relatórios foram organizados por categorias de valores para analisar as diferenças entre grupos. Constataram-se duas tendências no relatório de valores pessoais que se ajustam, em alguns casos, ao dito pela teoria da mudança de valores; em outros casos, contradizem-na. Discute-se a importância dessas constatações e a necessidade de potencializar uma formação orientada aos valores da profissão de enfermagem. O estudo contribui para o conhecimento da mudança de valores pessoais em profissionais de enfermagem.