Elevated intraneural vascularization of the median nerve proximal to the arteriovenous fistula in hemodialysis patients suspected of carpal tunnel syndrome: A case series
Hemodial Int. 2023 Oct 23. doi: 10.1111/hdi.13123. Online ahead of print. ABSTRACT Patients with end-stage kidney disease may require creation of an arteriovenous fistula in order to receive hemodialysis treatment. The creation may result in several complications, including carpal tunnel syndrome. Early diagnosis and treatment are essential to relieve symptoms, prevent permanent nerve damage, and […]
The miR-668 binding site variant rs1046322 on WFS1 is associated with obesity in Southeast Asians
Front Endocrinol (Lausanne). 2023 Oct 4;14:1185956. doi: 10.3389/fendo.2023.1185956. eCollection 2023. ABSTRACT The Wolfram syndrome 1 gene (WFS1) is the main causative locus for Wolfram syndrome, an inherited condition characterized by childhood-onset diabetes mellitus, optic atrophy, and deafness. Global genome-wide association studies have listed at least 19 WFS1 variants that are associated with type 2 diabetes […]
Dopamine D2 receptors in WFS1-neurons regulate food-seeking and avoidance behaviors
Prog Neuropsychopharmacol Biol Psychiatry. 2023 Oct 17:110883. doi: 10.1016/j.pnpbp.2023.110883. Online ahead of print. ABSTRACT The selection and optimization of appropriate adaptive responses depends on interoceptive and exteroceptive stimuli as well as on the animal’s ability to switch from one behavioral strategy to another. Although growing evidence indicate that dopamine D2R-mediated signaling events ensure the selection […]
Genomics of Wolfram Syndrome 1 (WFS1)
Biomolecules. 2023 Sep 4;13(9):1346. doi: 10.3390/biom13091346. ABSTRACT Wolfram Syndrome (WFS) is a rare, autosomal, recessive neurogenetic disorder that affects many organ systems. It is characterised by diabetes insipidus, diabetes mellites, optic atrophy, and deafness and, therefore, is also known as DIDMOAD. Nearly 15,000-30,000 people are affected by WFS worldwide, and, on average, patients suffering from […]
Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report
J Med Case Rep. 2023 Sep 27;17(1):409. doi: 10.1186/s13256-023-04150-2. ABSTRACT BACKGROUND: Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by juvenile onset diabetes, optic nerve atrophy and other systemic manifestations. Symptoms of the disease arise mostly in early childhood with a high mortality rate due […]
Variants of WFS1 identified by whole exome sequencing in a boy with Wolfram syndrome 1: A case report
Biomed Rep. 2023 Aug 23;19(4):68. doi: 10.3892/br.2023.1650. eCollection 2023 Oct. ABSTRACT Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease. The condition is also known as ‘diabetes insipidus, diabetes mellitus (DM), optic atrophy (OA) and deafness’, with early onset DM and OA as the usual initial manifestations in childhood. The present study reports […]
Editorial: Debates in clinical management in pediatric endocrinology, volume II
Front Endocrinol (Lausanne). 2023 Aug 21;14:1270794. doi: 10.3389/fendo.2023.1270794. eCollection 2023. NO ABSTRACT PMID:37670885 | PMC:PMC10476077 | DOI:10.3389/fendo.2023.1270794
Wolfram Syndrome-2, a Cause of Severe Gastrointestinal Bleeding: A Case Series and a Literature Review
JPGN Rep. 2023 Jul 17;4(3):e339. doi: 10.1097/PG9.0000000000000339. eCollection 2023 Aug. ABSTRACT BACKGROUND: There are very few reports of Wolfram syndrome-2 (WFS2) in the literature, and understanding of involvement of the gastrointestinal (GI) tract in the syndrome is limited. Objectives: This study aims to describe the clinical presentations of a large number of WFS2 patients with […]
Wolfram Syndrome: Only a Neurodegenerative Disease or Also a Maculopathy?
J Neuroophthalmol. 2023 Aug 14. doi: 10.1097/WNO.0000000000001981. Online ahead of print. NO ABSTRACT PMID:37581949 | DOI:10.1097/WNO.0000000000001981
There’s More Than Meets the Eye: Wolfram Syndrome in a Type I Diabetic Patient
J Med Cases. 2023 Jul;14(7):265-269. doi: 10.14740/jmc4128. Epub 2023 Jul 31. ABSTRACT Wolfram syndrome (WS) is a rare neurodegenerative and genetic disorder, also known by the synonym DIDMOAD, which stands for diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), optic atrophy (OA), and deafness (D). We present a case of a 25-year-old diabetic patient, using insulin […]