Publications by authors named "E Braha"
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours that originate from chromaffin cells and occur in the adrenal medulla and in the sympathetic or parasympathetic ganglia. Nearly 70% of PPGLs result from germline or somatic mutations in a single driver gene. The aim of this study was to characterize the genetic background and clinical characteristics related to genetic profile of patients with PPGLs from Romania.
View Article and Find Full Text PDFArticle Synopsis
- - Gangliosidosis is a rare genetic lysosomal storage disease caused by GLB1 mutations, leading to a deficiency in β-galactosidase and the buildup of GM1 ganglioside, affecting 1 in 200,000 live births.
- - Clinical symptoms often include distinctive facial features, issues with the nervous and skeletal systems, enlarged liver and spleen, and heart problems, making diagnosis difficult, especially in infants.
- - A 3-month-old boy presented with respiratory distress and heart failure, showing atypical symptoms that complicated diagnosis, ultimately confirmed postmortem through genetic testing correlating the unusual clinical signs with GM1 gangliosidosis.
RARE DOSAGE ABNORMALITIES - COPY NUMBER VARIATIONS FLANKING THE SHOX GENE.
Acta Endocrinol (Buchar)
August 2023
Background: Molecular defects in the gene including deletions, duplications or pathogenic point mutations are responsible for well-known pathologies involving short stature as a clinical manifestation: Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia, Turner syndrome or idiopathic short stature. Duplications flanking the gene (upstream or downstream of the intact gene involving conserved non-coding cis-regulatory DNA elements - CNEs) have been described but their clinical involvement is still difficult to understand.
Results: We describe two cases with short stature and normal GH-IGF1 status.
Childhood obesity has become a global public health issue and its assessment is essential, as an obese child is a future overweight or obese adult. Obesity is no longer a matter of exercising more and eating less, with several factors coming into play and dictating the pattern of fat accumulation and the ease/difficulty of reducing it. In the current paper, we aimed to analyze the cardiovascular impact of obesity in a large number of patients alongside the paraclinical changes that occur due to weight gain, and to perform an analysis on the increase in prevalence throughout our research.
View Article and Find Full Text PDFBardet - Biedl syndrome is a rare autosomal recessive multisystem non-motile ciliopathy. It has heterogeneous clinical manifestations. It is caused by mutations in 26 genes encoding BBSome proteins, chaperonines, and IFT complex.
View Article and Find Full Text PDF