Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management
Front Genet. 2023 Dec 14;14:1224284. doi: 10.3389/fgene.2023.1224284. eCollection 2023. ABSTRACT Introduction: Monogenic diabetes (MD) accounts for 3%-6% of all cases of diabetes. This prevalence is underestimated due to its overlapping clinical features with type 1 and type 2 diabetes. Hence, genetic testing is the most appropriate tool for obtaining an accurate diagnosis. In Tunisia, few […]
Overlap between ophthalmology and psychiatry – A narrative review focused on congenital and inherited conditions
Psychiatry Res. 2023 Nov 25;331:115629. doi: 10.1016/j.psychres.2023.115629. Online ahead of print. ABSTRACT A number of congenital and inherited diseases present with both ocular and psychiatric features. The genetic inheritance and phenotypic variants play a key role in disease severity. Early recognition of the signs and symptoms of those disorders is critical to earlier intervention and […]
Convolamine, a tropane alkaloid extracted from Convolvulus plauricalis, is a potent sigma-1 receptor-positive modulator with cognitive and neuroprotective properties
Phytother Res. 2023 Nov 27. doi: 10.1002/ptr.8068. Online ahead of print. ABSTRACT BACKGROUND AND AIM: By using an in vivo phenotypic screening assay in zebrafish, we identified Convolamine, a tropane alkaloid from Convulvus plauricalis, as a positive modulator of the sigma-1 receptor (S1R). The wfs1abKO zebrafish larva, a model of Wolfram syndrome, exhibits an increased […]
Wolfram syndrome type 1: a case series
Orphanet J Rare Dis. 2023 Nov 16;18(1):359. doi: 10.1186/s13023-023-02938-5. ABSTRACT BACKGROUND: Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent diabetes mellitus, optic atrophy, sensorineural deafness, and diabetes as the main features. Owing to clinical phenotypic heterogeneity, the misdiagnosis rate is high. However, early accurate diagnosis and comprehensive management […]
The experience of diagnosis announcement in rare endocrine diseases: a survey of the French FIRENDO network
Ann Endocrinol (Paris). 2023 Nov 9:S0003-4266(23)00726-6. doi: 10.1016/j.ando.2023.10.008. Online ahead of print. ABSTRACT CONTEXT: Diagnosis announcement of a chronic disease is a crucial moment for patients as well as for their families and an important step in the management of severe conditions such as rare endocrine diseases. Little is known of how diagnosis is communicated […]
High frequency of recessive WFS1 mutations among Indian children with islet antibody-negative type 1 diabetes
J Clin Endocrinol Metab. 2023 Nov 1:dgad644. doi: 10.1210/clinem/dgad644. Online ahead of print. ABSTRACT BACKGROUND: While the frequency of islet antibody-negative (idiopathic) type 1 diabetes mellitus (T1DM) is reported to be increased in Indian children, its aetiology is not studied. We investigated the role of monogenic diabetes in the causation of islet antibody-negative T1DM. METHODS: […]
Wolfram Syndrome: A Curious Case of Repetitive Loss of Consciousness
Cureus. 2023 Oct 3;15(10):e46426. doi: 10.7759/cureus.46426. eCollection 2023 Oct. ABSTRACT Wolfram syndrome is a rare, multisystemic, progressive, and autosomal-recessive genetic disease, characterized by diabetes mellitus and diabetes insipidus, optic nerve atrophy, deafness, and other neurological signs. The diagnosis is usually based on history and clinical manifestations but genetic tests are necessary for confirmation. Currently, there […]
Treatment with the dual-incretin agonist DA-CH5 demonstrates potent therapeutic effect in a rat model of Wolfram Syndrome
Front Endocrinol (Lausanne). 2023 Oct 13;14:1234925. doi: 10.3389/fendo.2023.1234925. eCollection 2023. ABSTRACT AIM: Wolfram Syndrome (WS) is a rare condition caused by mutations in Wfs1, with a poor prognosis and no cure. Mono-agonists targeting the incretin glucagon-like-peptide 1 (GLP-1) have demonstrated disease-modifying potential in pre-clinical and clinical settings. Dual agonists that target GLP-1 and glucose-dependent insulinotropic […]
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 […]