A new case with coexistence of mosaic 48,XYYY/47,XYY, and CACNA1E variant in autism spectrum disorder.

Autism spectrum disorder (ASD) is a genetically heterogeneous neurobehavioral disorder. The etiology and the inheritance pattern are usually multifactorial. The index case is a 3-year-old male, whose family applied to the child psychiatry outpatient clinic due to failure to speak at 30 months.

A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.

Gitelman syndrome is a rare, autosomal recessively inherited tubulopathy manifesting with hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. Common symptoms include fatigue, myalgia, reduced performance capacity, tetany, paresthesia, and delayed growth. However, as reported in the literature, diagnosis in some patients is prompted by an incidental finding of hypokalemia.

Higher TP53 somatic mutation prevalence from liquid biopsy analysis in ever smoker non-small-cell lung cancer patients.

Objective: Cigarette smoking is a primary risk factor, linked to 80% of LC deaths. TP53, a key gene, is implicated in various cancers, with TP53 alterations in 36.7% of cancers.

A new perspective on isotretinoin in pregnancy: Pregnancy outcomes, evaluation of complex phenotypes, and importance of teratological counselling.

Objectives: Teratogens are responsible for 5% of all known causes of congenital anomalies. Isotretinoin, a retinoic acid-derived agent, leads to congenital anomalies in 21-52% of cases when exposure occurs during pregnancy according to studies conducted before 2006. However, rates of congenital anomalies were much lower in later studies.

The association between exocrine pancreatic dysfunction and insulin resistance in an insulin-resistant population in Turkey: A cross-sectional study.

Background: In insulin resistance (IR), it is thought that pancreatic fat accumulation may decrease pancreatic volume, cause an impaired endocrine function, and simultaneously lead to an exocrine dysfunction before diabetes develops.

Aim: The association between pancreatic exocrine function and insulin resistance (IR) was assessed in a population with insulin resistance.

Method: This was a descriptive cross-sectional study that included 43 IR cases with no other comorbid diseases or pregnancy and 41 healthy controls.