Uncover the latest and most impactful research in Fanconi syndrome. Explore pioneering discoveries, insightful ideas and new methods from leading researchers in the field.
Purpose Catheter-induced flow compromise (CFC) occurs during endovascular treatment of posterior circulation aneurysms; however, its embolic risk—particularly that of incomplete flow stasis as distinct from complete wedge—remains poorly...
Background Semaglutide is generally regarded as renoprotective, although acute kidney injury from volume depletion or interstitial nephritis has been reported. Fanconi-like proximal tubular dysfunction has not been well characterized with this agent....
Background Leigh syndrome (LS) or subacute necrotizing encephalopathy is a rare inherited mitochondrial disorder with a global prevalence of 1 in 40,000 and affecting majorly infants and neonates. Symptoms usually appear before 24 months of age and...
Objectives Worldwide, fetal growth restriction (FGR) is the second leading risk factor for neonatal mortality, second only to preterm birth. Our study aimed to determine the possible associations between FGR and cesarean section. ...
Introduction Vascular malformations (VMs) associated with overgrowth represent a heterogeneous group of congenital disorders driven by somatic or germline variants in genes regulating vascular morphogenesis and cellular proliferation. While PIK3CA-re...
Background Wieacker–Wolff syndrome (WWS), also termed ZC4H2-associated rare disorder (ZARD), is a rare X-linked neurodevelopmental disorder caused by pathogenic variants in ZC4H2at chromosome Xq11.2. Core manifestations include developmental delay,...
Background Piebaldism is a rare autosomal dominant pigmentary disorder characterized by congenital depigmented patches and a white forelock, primarily caused by pathogenic variants in KIT. A subset of patients additionally exhibit Café-au-lait...
Purpose The study aimed to evaluate the risk of complications, quality of life (QoL) and quality of sleep (QoS) during Ramadan fasting (RF) in patients with primary adrenal insufficiency (PAI) and determine the associated factors. Methods...
Background Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS) is a rare heterogeneous condition characterized by rapid onset obsessions/compulsions and/or food restriction with at least two accompanying acute-onset neuropsychiatric symptoms. PANS...
Familial Mediterranean fever (FMF) is classically inherited as an autosomal recessive disease, yet some clinically diagnosed patients are heterozygous for pathogenic MEFVvariants. We evaluated long-term clinical course, cumulative damage, and...
Background Gitelman syndrome (GS) is a rare autosomal recessive salt-losing tubulopathy caused biallelic disease-associated variants in SLC12A3, which encodes the thiazide-sensitive Na+-Cl-cotransporter. Typical features include hypokalemia,...
Introduction Isaacs syndrome (IS), or acquired neuromyotonia, is a rare immune-mediated neuromuscular disorder characterized by increased peripheral nerve excitability. Clinically, it manifests with fasciculations, cramps, excessive sweating, and the...
Mucopolysaccharidosis IVA, also known as Morquio syndrome, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Spinal involvement, particularly at the craniocervical junction,...
Vacuolar protein sorting 16 (VPS16) functions in endolysosomal trafficking. Biallelic VPS16variants cause a mucopolysaccharidosis-like syndrome reported in only four patients, with neurological involvement ranging from mild developmental delay to...
Riddle syndrome is a rare autosomal recessive disorder caused by RNF168 mutations, characterized by radiosensitivity, immunodeficiency, and dysmorphic features. We reported the first Asian family cluster involving a homozygous RNF168c.91T>C...
