Publications by authors named "Petr E Jira"
Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down-slanting palpebral fissures), calcified external ears, sparse body hair and distal muscle wasting. The syndrome is caused by de novo heterozygous missense variants in ZBTB20. Most of the 29 published patients are adults as characteristics appear more recognizable with age.
View Article and Find Full Text PDFBackground Smoking during pregnancy still exists in daily life but the effect on the newborn in the early stage of life is still unclear. This study investigates the normal reference range of carboxyhemoglobin (HbCO) in umbilical cord blood gas (UBG). Methods A single center retrospective cross-sectional cohort study was performed with 1172 cases.
View Article and Find Full Text PDFArticle Synopsis
- - The study investigates the growth hormone (GH) levels and the prevalence of growth hormone deficiency (GHD) in young adults with Prader-Willi syndrome (PWS) who were previously treated with GH.
- - Out of 60 individuals studied, only 3% had low serum IGF-I levels, and 15% showed GH peaks below the threshold, but none met the full criteria for adult GHD despite some showing lower GH peaks associated with higher BMI and fat mass.
- - The findings suggest that while some young adults with PWS exhibit lower GH peaks, the overall prevalence of adult GHD in this population is not significant, indicating that GH therapy has been effective.
Familial hypercholesterolemia (FH) is a monogenic autosomal dominant disorder. FH is the most common hereditary cause of raised serum cholesterol levels and is associated with an increased risk of premature cardiovascular disease (CVD). This disorder is known to have a genetic cause, and effective drug therapies exist for patients with FH.
View Article and Find Full Text PDFBeneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study.
J Clin Endocrinol Metab
July 2012
Background: Knowledge about the effects of GH treatment on cognitive functioning in children with Prader-Willi syndrome (PWS) is limited.
Methods: Fifty prepubertal children aged 3.5 to 14 yr were studied in a randomized controlled GH trial during 2 yr, followed by a longitudinal study during 4 yr of GH treatment.
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
J Clin Endocrinol Metab
February 2012
Context: P450 oxidoreductase deficiency (PORD) is a unique congenital adrenal hyperplasia variant that manifests with glucocorticoid deficiency, disordered sex development (DSD), and skeletal malformations. No comprehensive data on genotype-phenotype correlations in Caucasian patients are available.
Objective: The objective of the study was to establish genotype-phenotype correlations in a large PORD cohort.
Background: Children with Prader-Willi syndrome (PWS) have abnormal body composition and impaired growth. Short-term GH treatment has beneficial effects.
Objectives: The aim of the study was to investigate effects of long-term continuous GH treatment on body composition, growth, bone maturation, and safety parameters.