RESUMEN
OBJECTIVE: To clarify the role of the T-lymphocyte-associated-4 (CTLA-4) polymorphism in the susceptibility to child-onset type 1 diabetes with regard to its clinical characteristics and complications with autoimmune thyroid disease (AITD) in the Japanese population. RESEARCH DESIGN AND METHODS: The CTLA-4 49 A/G polymorphism was detected by the PCR-restriction fragment-length polymorphism (RFLP) method in 97 type 1 diabetic subjects and 20 patients with Graves' disease, a cohort which included 4 patients who also had type 1 diabetes. RESULTS: The genotypes and allele frequencies of this polymorphism did not differ between the type 1 diabetic subjects and the control subjects. The G allele frequency was 63.9% in the type 1 diabetic subjects. The G allele frequency in the subgroup of patients with a high titer of autoantibodies to the GAD antibody (Ab) was 72.9% (P = 0.0499 vs. control subjects); in the subgroup of patients without HLA DRB1*0405, it was 72.6% (P = 0.0271 vs. control subjects); and in the subgroup of patients with a residual beta-cell function, it was 78.6% (P = 0.0391 vs. control subjects). The G allele frequency in the patients with Graves' disease was also significantly higher at 78.1% (P = 0.0405 vs. control subjects). Furthermore, the frequency in our diabetic subjects complicated with Graves' disease was even higher (87.5%). CONCLUSIONS: We have demonstrated that a distinct association exists between the G allele of CTLA-4 and high values of GAD Ab, residual beta-cell function, and the absence of HLA-DRB1*0405.
Asunto(s)
Antígenos de Diferenciación/genética , Diabetes Mellitus Tipo 1/genética , Enfermedad de Graves/genética , Polimorfismo de Longitud del Fragmento de Restricción , Adolescente , Antígenos CD , Autoanticuerpos , Antígeno CTLA-4 , Niño , Diabetes Mellitus Tipo 1/inmunología , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Enfermedad de Graves/inmunología , Antígenos HLA-DR/genética , Cadenas HLA-DRB1 , Humanos , Islotes Pancreáticos/fisiología , Japón , MasculinoRESUMEN
BACKGROUND/AIM: To evaluate the accuracy of the human chorionic gonadotropin (hCG) stimulation test in children with micropenis in predicting later Leydig cell function. METHODS: We conducted a retrospective investigation of testosterone response to a 3-day hCG test (3,000 IU/m2/day) in prepuberty to indicate the need for hormone replacement therapy (HRT) in adolescence. RESULTS: Fifty Japanese boys (range, 0.8-15.4 years of age; median, 8.9) with micropenis were enrolled. Thirty-four spontaneously developed puberty and preserved the ability of testosterone production (group 1), while 16 did not develop any pubertal signs without HRT (group 2). Serum testosterone levels after the hCG test (post-hCG T) in group 2 (range, <0.05-1.1 ng/ml; median, 0.24) were significantly lower than in group 1 (range, 0.5-8.7 ng/ml; median, 2.4; p < 0.0001). Based on true positives who required continuous HRT, the area under the receiver-operating characteristics curve for post-hCG T was 0.983 [95% confidence interval (CI), 0.90-1.00]. The post-hCG T cut-off level corresponding to the Youden index was 1.1 ng/ml (95% CI, 1.0-1.1), with a sensitivity of 100.0% (95% CI, 79.4-100.0) and a specificity of 94.1% (95% CI, 80.3-99.3). CONCLUSIONS: The hCG test in prepubertal children with micropenis can be useful for predicting Leydig cell function in pubertal or postpubertal adolescents. The post-hCG T cut-off level of 1.1 ng/ml is recommended to screen for those who will likely require HRT for pubertal development.
Asunto(s)
Enfermedades de los Genitales Masculinos/diagnóstico , Células Intersticiales del Testículo/efectos de los fármacos , Pene/anomalías , Lactógeno Placentario/farmacología , Adolescente , Pueblo Asiatico , Niño , Preescolar , Hormona Folículo Estimulante/sangre , Hormona Liberadora de Gonadotropina/sangre , Hormona Liberadora de Gonadotropina/farmacología , Terapia de Reemplazo de Hormonas , Humanos , Lactante , Masculino , Pene/anatomía & histología , Pene/crecimiento & desarrollo , Pubertad , Estudios Retrospectivos , Estimulación Química , Testosterona/sangreAsunto(s)
Anomalías Múltiples/fisiopatología , Anomalías Craneofaciales/fisiopatología , Displasia Ectodérmica/fisiopatología , Anomalías Múltiples/diagnóstico por imagen , Huesos/anomalías , Anomalías Craneofaciales/diagnóstico por imagen , Displasia Ectodérmica/diagnóstico por imagen , Resultado Fatal , Femenino , Deformidades Congénitas de la Mano/diagnóstico por imagen , Humanos , Recién Nacido , Huesos de la Pierna/anomalías , Masculino , Atención Perinatal , Fenotipo , RadiografíaRESUMEN
A total of 141 children with community-acquired pneumonia (CAP) were studied prospectively to determine the causative microorganisms. Microbial investigations included examination of postnasal swabs, cultures, polymerase chain reaction (PCR), and serology. The atypical pathogens occurring most frequently were Mycoplasma pneumoniae (58 patients [41.1%]), Chlamydia pneumoniae (4 patients [2.8%]), and concurrent occurrence of both pathogens (1 patient [0.7%]). Patients aged under 4 years showed a relatively lower rate of atypical bacterial etiology compared with those aged 4 years or older. Major bacterial pathogens were detected in 89 patients (atypical pathogens were detected in 28 patients simultaneously), including Streptococcus pneumoniae in 34 patients, Haemophilus influenzae in 60, Moraxella catarrhalis in 48, and multiple pathogens in 42. In patients suspected of having atypical pneumonia, macrolides are recommended.
Asunto(s)
Infecciones por Chlamydophila/microbiología , Chlamydophila pneumoniae/aislamiento & purificación , Mycoplasma pneumoniae/aislamiento & purificación , Neumonía Bacteriana/microbiología , Adolescente , Factores de Edad , Antibacterianos/uso terapéutico , Anticuerpos Antibacterianos/sangre , Niño , Preescolar , Infecciones por Chlamydophila/tratamiento farmacológico , Chlamydophila pneumoniae/inmunología , Infecciones Comunitarias Adquiridas/tratamiento farmacológico , Infecciones Comunitarias Adquiridas/microbiología , ADN Bacteriano/análisis , Femenino , Humanos , Japón , Macrólidos/uso terapéutico , Masculino , Mycoplasma pneumoniae/inmunología , Neumonía Bacteriana/diagnóstico , Neumonía Bacteriana/tratamiento farmacológico , Neumonía por Mycoplasma/tratamiento farmacológico , Neumonía por Mycoplasma/microbiología , Reacción en Cadena de la Polimerasa , Estudios Prospectivos , Índice de Severidad de la EnfermedadRESUMEN
Ten new 8,17-epoxybriarane diterpenoids, briaranolides A-J (1-10), were isolated from an Okinawan gorgonian Briareum sp. The structure of the diterpenoids was determined on the basis of spectroscopic analysis, chemical conversions, and X-ray analysis.
Asunto(s)
Antozoos/química , Diterpenos/aislamiento & purificación , Animales , Cristalografía por Rayos X , Diterpenos/síntesis química , Diterpenos/química , Japón , Conformación Molecular , Estructura Molecular , Resonancia Magnética Nuclear BiomolecularRESUMEN
In this article, we report two patients with IgA-associated glomerulonephritis with a membranoproliferative glomerulonephritis (MPGN) -like pattern. Both patients had nephrotic syndrome at onset. One patient was treated with high-dose alternate-day prednisolone (PSL), and the other with indomethacin and low-dose PSL. One lost the urinary abnormalities 3 years after starting treatment. The other lost the nephrotic state and hematuria over a 5-year period, but proteinuria persisted until the last follow-up. Both patients had diffuse proliferative changes with mesangial interposition and subendothelial deposits, associated with strongly positive deposits of C3 and IgA along the capillary walls of the glomeruli. These two patients showed histological changes compatible with type-I MPGN, but the pattern of IgA deposits was not typical of idiopathic MPGN or IgA nephropathy. We assume this is a rare form of MPGN, not associated with liver disease or other systemic diseases.