Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Mais filtros











Base de dados
Intervalo de ano de publicação
1.
BMC Pediatr ; 24(1): 564, 2024 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-39237896

RESUMO

Two cases of neonatal splenic hemorrhage with acute cardiorespiratory failure are described in this report. The first case involves a full-term neonate who was found unresponsive without any witnesses and could not be successfully resuscitated. A postmortem diagnosis revealed a splenic hemorrhage. Second case is an extremely premature neonate who experienced a witnessed cardiovascular collapse on the 14th day of life. Rapid cardiovascular support was administered, resulting in a positive outcome. While splenic hemorrhage is commonly associated with traumatic events, these cases highlight the need of considering spontaneous splenic hemorrhages as a potential cause of acute neonatal compromise, even in the absence of birth-related trauma (e.g., asphyxia, prolonged labor, clavicle fractures, brachial plexus injuries). This report emphasizes the importance of including splenic hemorrhage timely in the differential diagnosis of neonatal cardiorespiratory instability, especially in the absence of more common diagnoses, and discusses the challenges associated with its recognition and treatment.


Assuntos
Hemorragia , Humanos , Recém-Nascido , Evolução Fatal , Hemorragia/etiologia , Hemorragia/diagnóstico , Masculino , Esplenopatias/complicações , Esplenopatias/etiologia , Feminino , Lactente Extremamente Prematuro , Insuficiência Cardíaca/etiologia , Insuficiência Cardíaca/complicações , Insuficiência Respiratória/etiologia
2.
Eur J Hum Genet ; 29(8): 1198-1205, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33867525

RESUMO

SETBP1 haploinsufficiency disorder (MIM#616078) is caused by haploinsufficiency of SETBP1 on chromosome 18q12.3, but there has not yet been any systematic evaluation of the major features of this monogenic syndrome, assessing penetrance and expressivity. We describe the first comprehensive study to delineate the associated clinical phenotype, with findings from 34 individuals, including 24 novel cases, all of whom have a SETBP1 loss-of-function variant or single (coding) gene deletion, confirmed by molecular diagnostics. The most commonly reported clinical features included mild motor developmental delay, speech impairment, intellectual disability, hypotonia, vision impairment, attention/concentration deficits, and hyperactivity. Although there is a mild overlap in certain facial features, the disorder does not lead to a distinctive recognizable facial gestalt. As well as providing insight into the clinical spectrum of SETBP1 haploinsufficiency disorder, this reports puts forward care recommendations for patient management.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/genética , Proteínas de Transporte/genética , Deficiências do Desenvolvimento/genética , Haploinsuficiência , Deficiência Intelectual/genética , Proteínas Nucleares/genética , Fenótipo , Adolescente , Adulto , Idoso , Transtorno do Deficit de Atenção com Hiperatividade/patologia , Criança , Pré-Escolar , Deficiências do Desenvolvimento/patologia , Feminino , Humanos , Lactente , Deficiência Intelectual/patologia , Mutação com Perda de Função , Masculino , Pessoa de Meia-Idade , Síndrome
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA