Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with multisystem affection. Cardiac Involvement, when present is usually in the form of congenital heart disease. However, valvular involvement due to acquired heart disease is extremely unusual. Herein, a 10-year-old boy of Bardet-Biedl syndrome is reported who presented with multiple rheumatic valvular regurgitation.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.
Sci Rep
January 2025
Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, 936 Huanghe East Road, Jinfeng District, Yinchuan, 750004, China.
In this study, patients with inherited retinal dystrophies (IRDs) who visited Ningxia Eye Hospital from January 2015 to September 2023 were analyzed. Through Whole Exome Sequencing (WES) and Sanger verification, 17 probands carrying homozygous variants were detected. The association between the genotype and clinical phenotype of patients with homozygous variants was analyzed.
View Article and Find Full Text PDFSyndromic Retinitis Pigmentosa: A Narrative Review.
Vision (Basel)
January 2025
Sztárai Institute, University of Tokaj, 3950 Sárospatak, Hungary.
Retinitis pigmentosa (RP) encompasses inherited retinal dystrophies, appearing either as an isolated eye condition or as part of a broader systemic syndrome, known as syndromic RP. In these cases, RP includes systemic symptoms impacting other organs, complicating diagnosis and management. This review highlights key systemic syndromes linked with RP, such as Usher, Bardet-Biedl, and Alström syndromes, focusing on genetic mutations, inheritance, and clinical symptoms.
View Article and Find Full Text PDFUrinary Dickkopf-3 Reflects Disease Severity and Predicts Short-Term Kidney Function Decline in Renal Ciliopathies.
Kidney Int Rep
January 2025
Department of General Pediatrics, University Children's Hospital Münster, Münster, Germany.
Introduction: Phenotypic heterogeneity and unpredictability of individual disease progression present enormous challenges in ultrarare renal ciliopathies. The tubular-derived glycoprotein, Dickkopf-related protein 3 (DKK3) is a promising biomarker for kidney fibrosis and prediction of kidney function decline. Here, we measured urinary DKK3 (uDKK3) levels in 195 pediatric patients with renal ciliopathy to assess its potential as a discriminative and prediction marker.
View Article and Find Full Text PDFExploring the therapeutic potential of precision medicine in rare genetic obesity disorders: a scientific perspective.
Front Nutr
December 2024
Faculty of Medicine, Diabetes Center, University of Geneva, Geneva, Switzerland.
The prevalence of obesity is increasing worldwide, affecting both children and adults. This obesity epidemic is mostly driven by an increase in energy intake (abundance of highly palatable energy-dense food and drinks) and to a lesser degree a decrease in energy expenditure (sedentary lifestyle). A small proportion of individuals with obesity are affected by genetic forms of obesity, which often relate to mutations in the leptin-melanocortin pathway or are part of syndromes such as the Bardet-Biedl syndrome.
View Article and Find Full Text PDFRare gene variants and weight loss at 10 years after sleeve gastrectomy and gastric bypass - a randomized clinical trial.
Surg Obes Relat Dis
December 2024
Folkhälsan Research Center, Genetics Research Program, Helsinki, Finland; Pediatric Research Center, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland; Department of Molecular Medicine and Surgery, Karolinska Institutet, and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Background: Genetic background of severe obesity is inadequately understood. The effect of genetic factors on weight loss after metabolic bariatric surgery (MBS) has shown inconclusive results.
Objectives: To determine the prevalence of rare obesity-associated gene variants in a secondary analysis of a randomized clinical trial (RCT) comparing laparoscopic sleeve gastrectomy (LSG) and laparoscopic Roux-en-Y gastric bypass (LRYGB) for the treatment of severe obesity and examine their association with long-term weight loss at 10 years.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!