Unlabelled: Nerve conduction velocity (NCV) abnormalities are the forerunners of diabetic peripheral neuropathy (DPN). Therefore, this study aimed to analyze the effect of glucose profile quality on NCV in children and young adults with type 1 diabetes. Fifty-three children age 5 to 23 years with type 1 diabetes were recruited to participate in the study, which was conducted prospectively at the Children's Hospital of Eastern Switzerland from 2016 to 2022.
View Article and Find Full Text PDFAim: An impressive discrepancy between reported and measured parental height is often observed. The aims of this study were: (a) to assess whether there is a significant difference between the reported and measured parental height; (b) to focus on the reported and, thereafter, measured height of the partner; (c) to analyse its impact on the calculated target height range.
Methods/results: A total of 1542 individual parents were enrolled.
Praxis (Bern 1994)
February 2006
A 8(6/12) year-old-boy presented with precocious puberty and a slightly enlarged left testis. After a detailed examination a Leydig cell tumour was diagnosed. Surgical exploration revealed an encapsulated tumour, 2.
View Article and Find Full Text PDFWe report a case of an adolescent girl treated with high-dose oral steroids for prolonged coughing thought to be secondary to unstable asthma. Iatrogenic adrenal suppression led to clinical appearance of Cushing syndrome and associated bilateral early post-capsular cataracts, slowing of growth velocity and osteopenia. After weaning off steroids, there was a spontaneous increase in aeral lumbar bone mineral density and also catch-up growth evident over a 5-year period.
View Article and Find Full Text PDFA 5-month-old boy with no history of vomiting, early sexual development, or noticeable significant illness was found dead in bed. Autopsy demonstrated bilateral adrenal hyperplasia unequivocally shown on biochemical testing of blood and urine to be due to 21-hydroxylase deficiency. Genetic analysis of the CYP21 gene showed compound heterozygosity; 1 allele contained a pseudogene sequence (gene conversion) and the other contained a previously described I172N point mutation.
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