Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.

Renal ciliopathies are a genetically and phenotypically heterogeneous group of diseases characterized by cystic and dysplastic kidneys. The aim of this study was to investigate the correlation between genetic changes that cause renal ciliopathies and phenotypic outcomes. The study group consisted of 137 patients diagnosed with renal ciliopathy disease.

The effects of psychosocial aftercare following pediatric chronic pain treatment withstand the coronavirus disease 2019 pandemic: long-term outcomes of a randomized controlled trial.

Introduction: Intensive interdisciplinary pain treatment (IIPT) is the best therapy available for children and adolescents affected by severe chronic pain. Psychosocial aftercare (PAC) offered for 6 months after IIPT can improve treatment outcomes for up to 12 months.

Objectives: The current study is the first to explore whether PAC is superior to treatment as usual at a long-term follow-up of 18 to 33 months after discharge-including when facing the coronavirus disease 2019 (COVID-19) pandemic.

Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review.

Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S) typically present before age 10. Genetic factors account for up to 50 % of neuropathies, which often display varied symptoms. Mutations in the IGHMBP2 gene are associated with both CMT2S and SMARD1, resulting in a rare clinical condition marked by axonal neuropathy, spinal muscular atrophy, respiratory distress, and muscle weakness.

Investigating terminal film thickness in oil spreading dynamics under opposing net surface tension force on calm water.

Heavy oils, particularly in cold water, spread slowly and eventually stop at a certain film thickness, known as the terminal film thickness. A few studies have specifically addressed the conditions and physical mechanisms that terminate the spreading process. However, traditional models for oil spreading on calm water do not predict this behavior, which may be due to a net negative surface tension effect.