Short term outcome of congenital hyperinsulinism: case series

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Short term outcome of congenital hyperinsulinism: case series

Results Five infants were reported. Hypoglycaemic seizure was the commonest presenting feature. All had detectable insulin level (>5 mU/l) during hypoglycaemic episodes and high glucose requirement (>10 mg/kg/min). Three patients were found to have genetic mutation associated with CH. Patient 1 had hyperammonaemia hyperinsulinism syndrome and corresponded missense mutation of GLUD1 gene. For pa...

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A Case Series: Congenital Hyperinsulinism

INTRODUCTION Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell's function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause o...

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a case series: congenital hyperinsulinism

conclusions congenital hyperinsulinism can have different inheritance pattern. autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. it appears that mutations in abcc8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. pcr followed by sanger sequencing proved to be an efficient method for mutation de...

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Neonatal thrombocytopenia in the NICU of our series: etiology, predisposing factors, management and short-term outcome

Background: Thrombocytopenia (TTP) is one of the most common neonatal hematological disorders. The causes of neonatal TTP are very various, leading to large differences in the clinical profile of the affected neonates. Therefore, the aim of this study was to investigate the characteristics, clinical diagnoses and short-term outcomes of neonatal TTP in Bahrami Children's Hospital. Material and ...

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Congenital diaphragmatic hernia: short-term outcome.

BACKGROUND Despite progress in medical and surgical care the mortality rate of congenital diaphragmatic hernia remains high. Assessment of short-term outcome is important for comparison between different medical centers. OBJECTIVES To evaluate the short-term outcome of infants born with symptomatic CDH and to correlate demographic and clinical parameters with short-term outcome. METHODS We ...

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ژورنال

عنوان ژورنال: International Journal of Pediatric Endocrinology

سال: 2013

ISSN: 1687-9856

DOI: 10.1186/1687-9856-2013-s1-p176