ABSTRACT
La enfermedad de Kawasaki (EK); vasculitis aguda de etiología desconocida, ocurre predominantemente durante la infancia. Las manifestaciones iniciales son fiebre alta, inflamación mucocutánea, linfadenopatía cervical, puede producir aneurismas en las arterias coronarias, depresión de la contracti-lidad miocárdica e insuficiencia cardíaca, infarto de miocardio, arritmias y una morbi-mortalidad significativa, su diagnóstico es clínico. La EK clásica se diagnostica con fiebre mayor de 5 días y al menos 4 de las siguientes características clínicas: inyección conjuntival bilateral, cambios en los labios y cavidad oral, adenopatía cervical, cambios en las extremidades y exantema polimorfo. Si se presentan pocos hallazgos clínicos, pero se encuentran anormalidades en las arterias coronarias en el ecocardiograma, se puede establecer el diagnóstico. La EK atípi-ca se sospecha cuando hay fiebre, al menos 5 días con dos o tres de los síntomas princi-pales, en algunas ocasiones puede presen-tarse como abdomen agudo, meningitis aséptica, pleuritis. La meta del tratamiento es evitar la inflamación sistémica, además prevenir trombosis en los aneurismas desa-rrollados. La inmunoglobulina (IG) es la piedra angular en el tratamiento, se inicia en los primeros 10 días de inicio de la fiebre (2 gr/kg dosis única), la aspirina (80-100 mg/kg por día VO) administrada en combinación con IG como tratamiento inicial durante 4 a 6 semanas. Es importante conocer los criterios de diagnóstico clínico para su detección yKawasaki's DiseaseEnfermedad de Kawasakiasí poder evitar las complicaciones vascula-res que representan una amenaza para la vida del paciente. En la presente revisión se describen su epidemiología, fisiopatología, manifestaciones clínicas, tratamiento y com-plicaciones...(AU)
Subject(s)
Humans , Child , Vasculitis/complications , Mucocutaneous Lymph Node Syndrome/diagnosis , Lymphadenopathy , Heart FailureABSTRACT
OBJECTIVE: To report in African Americans with type 1 diabetes the association of single-nucleotide polymorphisms in 193 candidate genes with diabetic retinopathy (DR) and/or its progression. METHODS: A custom panel of 1536 single-nucleotide polymorphisms located on 193 candidate genes for DR was genotyped in 437 African Americans with type 1 diabetes who participated in the New Jersey 725 study. Clinical evaluations at baseline and follow-up examinations included structured clinical interview, ocular examination, 7-field stereoscopic fundus photographs, and blood pressure measurements. Severity of DR was determined via masked grading of fundus photographs. Biological evaluations included blood and urine assays. RESULTS: Single-nucleotide polymorphisms in 13 candidate genes for DR involved in glucose metabolism, angiogenesis, inflammation, neurotransmission, hypertension, and retinal development were significantly associated with the prevalence of severe DR. Three of these genes were also significantly associated with progression of DR. Adjusting for sex, duration of diabetes, glycosylated hemoglobin, systemic hypertension, and total cholesterol did not alter the results. CONCLUSIONS: Our data support the role of genetic factors to account for severity and/or progression of DR in African Americans with type 1 diabetes and to identify several prime genes that likely contribute to the risk of DR.
Subject(s)
Black or African American/genetics , Diabetes Mellitus, Type 1/genetics , Diabetic Retinopathy/genetics , Genes , Polymorphism, Single Nucleotide , Adult , Blood Pressure Determination , Diabetic Retinopathy/physiopathology , Disease Progression , Female , Genotype , Glucose Transport Proteins, Facilitative/genetics , Humans , Inflammation/genetics , Male , Neovascularization, Pathologic/genetics , Risk Factors , Synaptic Transmission/geneticsABSTRACT
Patients homozygous for the C allele of the T102C serotonin (5-HT) 2a receptor polymorphism have shown increased suicidal ideation or behavior in some reports, but not in others. We conducted a pilot investigation to determine whether this polymorphism might relate more specifically to a dimension of impaired impulse control, which may underlie only a portion of suicides. Rates of commission (impulsive) errors in a variant of the Continuous Performance Test (CPT) were compared across the genotypes of the T102C polymorphism in adults recruited from the community. The 102C/102C genotype was jointly associated with a greater incidence of past mood disorder or substance-use disorder, as well as significantly more commission errors compared to the 102T/102C and 102C/102C genotypes. These preliminary data suggest that the T102C 5-HT2a receptor polymorphism may be a marker for impaired behavior control-perhaps in the context of psychiatric disorder history.
