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1.
Congenit Anom (Kyoto) ; 62(5): 203-207, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35751412

RESUMEN

GATA4 is known to be a causative gene for congenital heart disease, but has also now been associated with disorders of sexual development (DSD). We here report a pathogenic variant of GATA4 in a 46,XY DSD patient with an atrial septal defect, identified by whole-exome sequencing to be c.487C>T (p.Pro163Ser). This mutation resulted in reduced transcriptional activity of the downstream gene. When we compared this transcriptional activity level with other GATA4 variants, those that had been identified in patients with cardiac defects and DSD showed less activity than those in patients with cardiac defect only. This suggests that the normal development of the heart requires more strict regulation of GATA4 transcription than testicular development. Further, when the different variants were co-expressed with wild-type, the transcriptional activities were consistently lower than would be expected from an additive effect, suggesting a dominant-negative impact of the variant via dimer formation of the GATA4 protein. Since these pathogenic GATA4 variants are occasionally identified in healthy parents, a threshold model of quantitative traits may explain the cardiac defect or DSD phenotypes that they cause.


Asunto(s)
Trastorno del Desarrollo Sexual 46,XY , Cardiopatías Congénitas , Defectos del Tabique Interatrial , Trastorno del Desarrollo Sexual 46,XY/diagnóstico , Trastorno del Desarrollo Sexual 46,XY/genética , Factor de Transcripción GATA4/genética , Factor de Transcripción GATA4/metabolismo , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/genética , Defectos del Tabique Interatrial/diagnóstico , Defectos del Tabique Interatrial/genética , Humanos , Mutación
2.
Microorganisms ; 9(4)2021 Apr 08.
Artículo en Inglés | MEDLINE | ID: mdl-33917715

RESUMEN

The aim of this study was to determine whether human herpesvirus 6B (HHV-6B) infection can impair the hippocampus in pediatric hematopoietic stem cell transplant (HSCT) recipients. Study subjects were pediatric HSCT recipients monitored for HHV-6B infection who underwent brain MRI before and after transplantation. Volumetric analysis of the hippocampus was performed. Of the 107 patients that received HSCT at Nagoya University Hospital Between July 2008 and April 2014, 20 were eligible for volumetric analysis. Eight patients had HHV-6B infection, of whom two had encephalopathy at the time of HHV-6B infection. None of the 12 patients without HHV-6B infection had encephalopathy. The median ratio of the right hippocampal volume from before to after transplantation was 0.93 in patients with HHV-6B infection and 1.02 in without HHV-6B infection (p = 0.007). The median ratio of the left hippocampal volume ratio in patients with and without HHV-6B infection was 0.92 and 1.00, respectively (p = 0.003). Among the eight patients with HHV-6B infection, four had a marked reduction in hippocampal volume (volume ratio < 0.90). Only one of these patients had neurological symptoms at the time of HHV-6B infection. The reduction in the hippocampal volume ratio was higher in pediatric HSCT recipients with HHV-6B infection than those without viral infection. Neurological follow-up may be required for pediatric HSCT recipients with HHV-6B infection.

3.
Pediatr Neurol ; 109: 52-55, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32381280

RESUMEN

BACKGROUND: It is well known that febrile seizures are commonly occur in children with exanthem subitum. In this study, we compared the clinical features and backgrounds of patients with complex febrile seizures with and without primary human herpesvirus 6B infection. METHODS: Sixty-two patients were enrolled after experiencing their first febrile seizure. Primary human herpesvirus 6B infection was confirmed when human herpesvirus 6B DNA was detected and human herpesvirus 6B antibody was negative in serum obtained during the acute phase of infection. Patient age, gender, and features of seizures were evaluated between patients with and without human herpesvirus 6B infection. RESULTS: Thirty patients with complex febrile seizure were diagnosed with primary human herpesvirus 6B infection. Those with primary human herpesvirus 6B infection (median, 13 months; range, seven to 39 months) were significantly younger than those without primary human herpesvirus 6B infection (median, 19 months; range, 10 to 59 months) (P = 0.001), and the proportion of males was significantly higher in patients without primary human herpesvirus 6B infection (male/female, 25/7) than in those with the infection (male/female, 14/16) (P = 0.017). An interval between fever onset and seizures of more than 24 hours was significantly more common in patients with primary human herpesvirus 6B infection (15 of the 30 patients) than in those without primary HHV-6B infection (two of 32 patients) (P < 0.001). CONCLUSIONS: A younger age at onset, a different gender ratio compared with febrile seizure due to other causes, and the length of interval between fever and seizures were features of complex febrile seizure associated human herpesvirus 6B infection. These findings may suggest a mechanism of complex febrile seizure onset different from that due to other causes.


Asunto(s)
Exantema Súbito/complicaciones , Herpesvirus Humano 6/patogenicidad , Convulsiones Febriles/etiología , Convulsiones Febriles/fisiopatología , Edad de Inicio , Preescolar , Femenino , Humanos , Lactante , Masculino , Factores Sexuales
4.
Pediatr Int ; 61(9): 895-903, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31295764

RESUMEN

BACKGROUND: Few population-based surveys of childhood arterial ischemic stroke (AIS) have been conducted in Asian countries. The aim of this study was to investigate the clinical features, time to diagnosis, and prognosis of childhood AIS in a population-based cohort in Japan. METHODS: Children aged 29 days-15 years 11 months old, residing in the Aichi Prefecture of Japan with radiologically confirmed AIS during 2010-2014, were identified retrospectively through questionnaires. We analyzed 40 children (23 boys, 17 girls; median age, 7 years 3 months), and collected time interval information of 26 patients. The time from clinical onset to first physician assessment and the time to AIS diagnosis were calculated. RESULTS: The most common presentation was paralysis or paresis in 27 patients (71%). No underlying disorders or possible trigger factors were identified in 14 patients (35%). The median time from symptom onset to first physician assessment was 2.9 h. The median time from symptom onset to the confirmed AIS diagnosis was 27.0 h. The diagnosis of AIS was made in the first 6 h after onset of symptoms in 27% of patients for whom the time was available. Radiological diagnosis took longer than 24 h in 54% of these patients. CONCLUSIONS: Long in-hospital delays exist in the diagnosis of AIS in children, likely due to lack of awareness of stroke by doctors. Further efforts to increase public and physician awareness of childhood stroke are needed to ensure early diagnosis and treatment.


Asunto(s)
Isquemia Encefálica/diagnóstico , Diagnóstico Tardío/estadística & datos numéricos , Accidente Cerebrovascular/diagnóstico , Adolescente , Isquemia Encefálica/complicaciones , Niño , Preescolar , Diagnóstico Precoz , Femenino , Humanos , Lactante , Recién Nacido , Japón , Masculino , Pronóstico , Estudios Retrospectivos , Accidente Cerebrovascular/etiología , Factores de Tiempo
5.
Pediatr Infect Dis J ; 38(10): e248-e253, 2019 10.
Artículo en Inglés | MEDLINE | ID: mdl-31261358

RESUMEN

OBJECTIVE: This cohort study, based on the design of a prior study in the United States, was conducted to elucidate the clinical features of primary human herpesvirus-6B (HHV-6B) infection. METHODS: Between June 2014 and May 2016, febrile children younger than 5 years who visited the emergency room (ER) and underwent blood examination were enrolled in this study. RESULTS: Fifty-nine (12%) of the 491 patients were diagnosed with primary HHV-6B infection. The rates of both simple and complex febrile seizure were significantly higher in patients with primary HHV-6B infection than in those without (P < 0.001 and P = 0.008, respectively). The median age at primary HHV-6B infection was 15 months. Forty-seven (79.7%) of the 59 patients with primary HHV-6B infection were younger than 2-year-old. Clinical features were compared between HHV-6B-infected patients older and younger than 2 years. The frequency of apparent infection (exanthema subitum) was significantly higher in the younger patients (P = 0.01). The median leukocyte (P = 0.01) and lymphocyte (P < 0.001) counts in the patients older than 2 years were significantly lower than those in the younger patients. CONCLUSIONS: Primary HHV-6B infection accounted for 12% of ER visits. Secondary febrile seizures, in particular the complex type, were considered to be a major contributor to the disease burden of primary HHV-6B infection. The timing of primary HHV-6B infection occurred at older ages than in past reports, and the frequency of inapparent infection was higher in older patients.


Asunto(s)
Herpesvirus Humano 6/aislamiento & purificación , Infecciones por Roseolovirus/patología , Distribución por Edad , Preescolar , Estudios de Cohortes , Servicio de Urgencia en Hospital , Femenino , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Infecciones por Roseolovirus/epidemiología , Estados Unidos/epidemiología
6.
Brain Dev ; 41(3): 285-291, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30392841

RESUMEN

INTRODUCTION: Mutations of the ATP1A3 gene are associated with a wide spectrum of neurological disorders including rapid onset dystonia-parkinsonism and alternating hemiplegia of childhood (AHC). The genotype-phenotype correlations in these cases remain unclear however. We here report a pediatric case of catastrophic early life epilepsy, respiratory failure, postnatal microcephaly, and severe developmental disability associated with a novel heterozygous ATP1A3 mutation. SUBJECT: A boy with a normal birth to nonconsanguineous parents was transferred to the NICU due to postnatal respiratory failure at 2 days. He showed extreme hypotonia, episodic oculomotor abnormality and tachycardia, and frequent epileptic seizures. Mechanical ventilation was required but his epileptic seizures were intractable to multiple antiepileptic drugs, including extremely high doses of phenobarbital. METHODS AND RESULTS: Whole exome sequencing analysis of the case and his parents identified a de novo heterozygous mutation in the ATP1A3 gene (c.2736_2738CTTdel, p.Phe913del). DISCUSSION: The Phe913 residue in the ATP1α3 protein that is deleted in our case is highly conserved among vertebrates. Notably, an amino acid deletion in the same transmembrane domain of this protein, p.Val919del, has been reported previously in typical AHC cases, suggesting that p.Phe913del is a pathogenic mutation. Several reported cases with severe symptoms and very early onset epilepsy harbor ATP1α3 mutations at structural positions in this protein that differ from that of Phe913. Further functional studies are required to clarify the relationship between the loss of Phe913 and the very distinct resulting phenotype.


Asunto(s)
Epilepsia/genética , Mutación/genética , ATPasa Intercambiadora de Sodio-Potasio/genética , Encéfalo/diagnóstico por imagen , Encéfalo/fisiopatología , Ondas Encefálicas/fisiología , Preescolar , Análisis Mutacional de ADN , Electroencefalografía , Epilepsia/sangre , Epilepsia/líquido cefalorraquídeo , Epilepsia/diagnóstico por imagen , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Masculino , Modelos Moleculares
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