Results 31 to 40 of about 6,126 (165)
Bardet-Biedl Syndrome Late Diagnosis with a Great Disability: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2018 The Bardet-Biedl Syndrome (BSS) is a genetic disease based on autosomal recessive disorder characterised by non-allelic heterogeneity. The prevalence in the European population is only 1 in 160,000 live births. We observed a case of late diagnosis in a
Oriana Amata +4 more
doaj +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Journal of the Pakistan Medical AssociationObjective: To analyse the symptoms of Bardet-Biedl Syndrome, and to check the association of BBS10 (Bardet-Biedl syndrome 10 gene), BBS6 (Bardet-Biedl syndrome 6 gene) and BBS12 (Bardet-Biedl syndrome 12 gene) with the pathogenesis of Bardet-Biedl ...
Sehrish Fatima +6 more
doaj +1 more source
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
Early diagnosis of Bardet-Biedl syndrome associated with obesity
Ожирение и метаболизм, 2008 One of the urgent problems of modern health care is the increase in the prevalence of obesity among children and adolescents. Late diagnosis and delayed initiation of treatment lead to serious complications such as hypertension, type 2 diabetes mellitus.
doaj +1 more source
BARDET-BIEDL SYNDROME – CASE PRESENTATION [PDF]
Romanian Journal of Pediatrics, 2015 Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight ...
Sorin Ioan Iurian +3 more
doaj +1 more source
Use of Glucagon‐Like Peptide‐1 Receptor Agonists in Danish Adolescents and Young Adults 2018–2025
Obesity, EarlyView.ABSTRACT Objective Use of glucagon‐like peptide‐1 receptor agonists (GLP‐1RAs) has increased rapidly following approval for obesity treatment, but data on their use in younger populations remain limited. We examined trends in GLP‐1RA use among 12– to 24‐year‐olds in Denmark during 2018–2025.
Helene Kildegaard +4 more
wiley +1 more source
Pediatric Investigation, EarlyView.Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source
Case Study of Bardet-Biedl Syndrome with Fetal Lobulation and Focal Segmental Glomerulosclerosis
Endocrinology Research and Practice, 2008 Bardet-Biedl syndrome is a genetic autosomal recessive disease characterized by abdominal obesity, mental retardation, dysmorphic extremities, retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism, and kidney involvement.
Yılmaz Tabel +3 more
doaj +2 more sources