Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.

In most cases there is a single etiological factor causing neuromotor developmental delay and epilepsy while sometimes more than one gene may be involved. These include the autosomal recessive inherited CAMSAP1 gene, which is associated with cortical developmental malformations such as pachygyria and lissencephaly and the autosomal dominant inherited NBEA gene, which plays crucial roles in vesicle trafficking as well as synapse structure and function. Loss of function of both genes together is a well-known disease mechanism.

Prevalence, risk level and risk factors of diabetic foot ulcer among adult individuals with diabetes in the Southeastern Anatolia Region of Turkiye.

Objective: The aim of the study was to determine the prevalence, risk, and predisposing factors of diabetic foot ulcers in adults with diabetes.

Methods: This study is multi-centered descriptive cross-sectional research. Data were collected between June 2022 and November 2022 in seven cities, including five teaching and research hospitals and two public hospitals.

Protective effect of deinoxanthin in sorafenib-induced nephrotoxicity in rats with the hepatocellular carcinoma model.

Sorafenib is a synthetic compound and an orally administered multichines inhibitor that targets growth signaling and angiogenesis. It is widely recognized as the standard of care for advanced hepatocellular carcinoma (HCC) but has toxic side effects. Deinoxanthin, purified from the radioresistant bacterium Deinococcus radiodurans, has strong antioxidant characteristics.

Corrigendum to "A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort": [Turkish Journal of Medical Sciences 54 (1) 2024 86-98].

[This corrects the article DOI: 10.55730/1300-0144.5769.

Molecular analysis of and gene deletions and relationships with clinical subtypes of spinal muscular atrophy.

SMA (spinal muscular atrophy) is an autosomal recessive neuromuscular disease that causes muscle atrophy and weakness. SMA is diagnosed by a homozygous deletion in exon 7 of the gene. However, mutations in genes located in the SMA region, such as , and may also contribute to the severity of the disease.