Phẫu thuật nội soi một đường rạch (PTNSMĐR) có nhiều ưu điểm song ít được áp dụng ở trẻ em. Chúng tôi ứng quy trình PTNSMĐR trong điều trị bệnh Hirschsprung em và đánh giá kết quả của phương pháp này. Nghiên cứu mô tả tiến trên 93 nhân tại Bệnh viện Nhi Trung ương từ tháng 01/2020 đến 12/2021. Kết tỷ lệ nam:nữ là 10,6:1, tuổi trung bình 3,27 tháng. Vô hạch trực tràng 66 trường hợp, đại sigma 24...

  Cartilage hair hypoplasia (CHH), is a rare cause of metaphyseal chondrodysplasia and short stature. Other features included hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (Hirschsprung disease, celiac, …) and increased risk of cancer. The disease is an autosomal recessive disorder and previously has not been reported in Iran. We report a 9-year-old boy diagnosed as car...

OBJECTIVES To provide a simple myomectomy technique for low-segment Hirschsprung disease and evaluate the efficacy of the new modification. DESIGN Case series of 19 patients followed up for 12 to 56 months (mean, 39.1 months). SETTING Tanta University Hospital, Tanta, Egypt. PARTICIPANTS Nineteen patients aged 4 months to 10 years complaining of chronic constipation, with radiological and...

Hirschsprung disease is a serious disorder of enteric nervous system (ENS) development caused by the failure of ENS precursor migration into the distal bowel. We now demonstrate that retinoic acid (RA) is crucial for GDNF-induced ENS precursor migration, cell polarization and lamellipodia formation, and that vitamin A depletion causes distal bowel aganglionosis in serum retinol-binding-protein-...

background: hirschsprung disease is a complex genetic disorder of the enteric nervous system (ens), often called congenital aganglionic megacolon and characterized by the absence of enteric neurons along a variable length of the intestine. the definitive diagnosis of hirschsprung disease relies on histologic and/or histochemical staining of sections from suction rectal biopsies. calretinin immu...

La enfermedad de Hirschsprung fue descrita por el pediatra danés Harald en 1888, edses la neuropatía entérica congénita más común, donde se produce una ausencia relajación del musculo entérico, con posterior obstrucción intestinal, esta caracterizada células ganglionares los plexos mientérico y submucoso intestino grueso, Su etiopatogenia está dada aganglionosis tracto digestivo, afectando prin...

Loss-of-function mutations in RET cause abnormal development of the enteric nervous system, a congenital condition known as Hirschsprung disease. Hirschsprung mutations in the extracellular domain of RET (RETECD) affect processing in the endoplasmic reticulum (ER) and prevent RET expression at the cell surface. We have investigated the processing and function of a series of Hirschsprung disease...

Introdução: A doença de Hirschsprung, também conhecida como megacólon congênito, apresenta alterações na inervação entérica distal. Durante o período neonatal, apresenta-se através da tríade clássica vômitos, distensão abdominal e atraso eliminação meconial. Objetivo: Descrever quadro clínico paciente do sexo masculino diagnosticado com brida congênita má rotação intestinal. Comentário: Embora ...

References 1. Takahashi M, Buma Y, Iwamoto T, Inaguma Y, Ikeda H, Hiai H. Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains. Oncogene 1988;3:571–8. 2. Takahashi M, Buma Y, Hiai H. Isolation of ret proto-oncogene cDNA with an amino-terminal signal sequence. Oncogene 1989;4:805–6. 3. Airaksinen MS, Saarma M. The GDNF family: signa...