La discapacidad intelectual, los trastornos de audición y las enfermedades visuales fueron los más beneficiados con diagnósticos, entre más de 2000 familias estudiadas por el Proyecto Cien Mil Genomas, cuyo reporte preliminar aparece en e Diagnosis in Health Care — Preliminary Report. N Engl J Med 2021;385:1868-1880.
Filed under Defectos congénitos, Diagnóstico, Neurogenética, Neurología by on . Comment.
– Association study of six candidate genes with major depressive disorder in the North-Western population of Pakistan
– Multi-omics integration analysis identifies novel genes for alcoholism with potential overlap with neurodegenerative diseases
– Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
– PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
– Genomic analysis identifies variants that can predict the timing of menopause
Filed under Diagnóstico, Medicina personalizada, Neurogenética, Neurología, Polimorfismos by on . Comment.
Al menos un tercio de nuevas variantes génicas patogénicas o probablemente patogénicas fueron encontradas en un estudio en pacientes chinos con enfermedad de Alzheimer, demencia frontotemporal o demencia con cuerpos de Lewis. Los detalles aparecen en Bin J, Hui L, Lina G, Xuewen X, Xinxin L, Yafang Z, et al. The role of genetics in neurodegenerative dementia: a large cohort study in South China. npj Genomic Medicine 2021;6:69.
Filed under Diagnóstico, Neurología, Polimorfismos by on . Comment.
– New and sex-specific migraine susceptibility loci identified from a multiethnic genome-wide meta-analysis
– International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework
– CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants
Filed under Cardiopatías, Diagnóstico, Neurogenética, Neurología, Polimorfismos by on . Comment.
– Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms
– Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases
– Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
– Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
– Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder
Filed under Diagnóstico, Neurogenética, Neurología, Polimorfismos by on . Comment.
El estudio del ADN circulante, por medio de una muestra de sangre, abre nuevas perspectivas en el diagnóstico oncológico, aunque se exploran sus aplicaciones en el infarto del miocardio, el ictus y otras afecciones. Un editorial habla sobre su introducción en el laboratorio clínico: Jiménez W. Biopsia líquida: un reto para el laboratorio de diagnóstico clínico. Avances en Medicina de Laboratorio, 2020; DOI: https://doi.org/10.1515/almed-2020-0036.
Filed under Cáncer, Cardiopatías, Diagnóstico, Neurología by on . Comment.
– Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction
– Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts
– Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
– Forward genetics identifies a novel sleep mutant with sleep state inertia and REM sleep deficits
– Causal Genetic Variants in Stillbirth
– A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling
Filed under Cáncer, Cardiopatías, Defectos congénitos, Diagnóstico, Neurología, Polimorfismos by on . Comment.
– Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations
– 8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer
– Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length
– Fine‐mapping of ZDHHC2 identifies risk variants for schizophrenia in the Han Chinese population
Filed under Cáncer, Diagnóstico, Neurología, Polimorfismos by on . Comment.
– Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
– The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly
– Association of Genetic Risks With Autism Spectrum Disorder and Early Neurodevelopmental Delays Among Children Without Intellectual Disability
– Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations
– Functional validity, role, and implications of heavy alcohol consumption genetic loci
Filed under Cardiopatías, Diagnóstico, Genómica, Medicina personalizada, Neurogenética, Neurología, Polimorfismos by on . Comment.
Un estudio de asociación proteómica ha identificado al menos 38 proteínas que no se relacionan con trastornos neurológicos y se asocian con la trayectoria cognitiva de adultos mayores. Los detalles son divulgados en Wingo AP, Dammer EB, Breen MS, Logsdon BA, Duong DM, Troncosco JC, et al. Large-scale proteomic analysis of human brain identifies proteins associated with cognitive trajectory in advanced age. Nature Communications 2019;10:1619.
Filed under Diagnóstico, Neurología, Proteómica by on . Comment.
