Extreme Phenotypic Variability of -Related Disorders in Hearing Loss.

Hearing loss is the most common sensory defect in humans, affecting normal communication. In most cases, hearing loss is a multifactorial disorder caused by both genetic and environmental factors, but single-gene mutations can lead to syndromic or non-syndromic hearing loss. Monoallelic variants in , coding for gamma (γ)-actin, are associated with classical Baraitser-Winter Syndrome type 2 (BRWS2, nonsyndromic deafness, and a variety of clinical presentations not fitting the original BRWS2 description or nonsyndromic deafness.

Fat beyond muscle: Assessing epimuscular fat of the lumbar spine and its association with vertebral level, demographics, BMI, and low back pain.

Introduction: Epimuscular fat (EF) has rarely been studied in the context of low back pain (LBP).

Research Question: This study aims to assess the presence and extent of EF in the lumbar muscles and its association with vertebral level in patients with low back disorders and to explore correlations between EF, demographics, BMI, and LBP.

Material And Methods: T2 axial MRIs from L1 to L5 were manually segmented to analyze the cross-sectional area (CSA) of EF (mm), and fat infiltration (FI,%) of 40 patients (23 females, 17 males; mean age:65.

Nocturnal Salivary Cortisol Is an Accurate Non-Invasive Test to Assess Endogenous Hypercortisolism in Children with Obesity and a Clinical Phenotype Suspicious for Cushing's Syndrome.

Introduction: Cushing's syndrome (CS) constitutes one of the most challenging diagnostic assessments for paediatric endocrinologists. The clinical presentation of some children with exogenous obesity overlaps with those observed in hypercortisolism states. Accurate, non-invasive first-line tests are necessary to avoid false-positive results in the obese.

Are large language models valid tools for patient information on lumbar disc herniation? The spine surgeons' perspective.

Introduction: Generative AI is revolutionizing patient education in healthcare, particularly through chatbots that offer personalized, clear medical information. Reliability and accuracy are vital in AI-driven patient education.

Research Question: How effective are Large Language Models (LLM), such as ChatGPT and Google Bard, in delivering accurate and understandable patient education on lumbar disc herniation?

Material And Methods: Ten Frequently Asked Questions about lumbar disc herniation were selected from 133 questions and were submitted to three LLMs.

Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.

Pubertal delay can be due to hypogonadotropic hypogonadism (HH), which may occur in association with anosmia or hyposmia and is known as Kallmann syndrome (OMIM #308700). Recently, hypogonadotropic hypogonadism has been suggested to overlap with Witteveen-Kolk syndrome (WITKOS, OMIM #613406) associated with 15q24 microdeletions encompassing . Whether hypogonadotropic hypogonadism is due to haploinsufficiency of or any of the other eight genes present in 15q24 is not known.