Predicting homozygous M694V genotype in paediatric FMF: multicentre analysis and scoring system proposal.

Objectives: This study aimed to evaluate the predictability of the homozygous M694V genotype in paediatric FMF patients and to develop a clinical scoring system to enhance disease management strategies.

Methods: This nationwide, multicentre, cross-sectional study included 3981 paediatric FMF patients with biallelic pathogenic variants in exon 10 of the Mediterranean fever gene. Patients were divided into two groups: group 1 (homozygous M694V) and group 2 (other variants).

Isoindole-1,3-Dione Sulfonamides as Potent Inhibitors of Glucosidase, Aldose Reductase, and Tyrosinase: A Molecular Docking and Enzyme Inhibition Study.

Diabetes mellitus, especially type 2, is a global health challenge, and effective enzyme inhibitors are essential for its control. Conventional inhibitors have drawbacks such as gastrointestinal side effects and regional availability, examples being acarbose and epalrestat. Moreover, tyrosinase, which controls melanin synthesis which is also a target for reducing hyperpigmentation disorders.

Prognostic relevance of sunitinib toxicities and comparison of continuous vs. intermittent sunitinib dosing schedule in metastatic renal cell cancer patients.

Aim Of The Study: Sunitinib-related side effects may develop as a result of the pharmacokinetic pathway affects the of the drug.

Material And Methods: Data on mRCC patients were obtained from the hospital archives. Outcomes of patients were evaluated in terms of related prognostic factors, sunitinib adverse events during the treatment, and two different sunitinib dosing schedules.

The genotoxic effect of nicotine on chromosomes of human fetal cells: the first report described as an important study.

Context: Recent studies have suggested a direct contribution of nicotine--the addictive component of tobacco and tobacco smoke--to human carcinogenesis, and it remains the most common harmful substance to which pregnant women are exposed. Also, it has deleterious effects on the fetus. The sperm of smoking fathers and newborns of smoking mothers have elevated frequencies of chromosome translocations and DNA strand breaks.

The reliability of maternal serum triple test in prenatal diagnosis of fetal chromosomal abnormalities of pregnant Turkish women.

Aim: The purpose of this article was to evaluate the reliability of maternal serum triple marker screening of alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol for the prenatal diagnosis of fetal chromosomal abnormalities in Turkish pregnant women.

Method: Medical records were used to analyze indications of amniocentesis and quantitative fluorescent-polymerase chain reaction. Anomaly screening was performed for all patients between 13 and 22 weeks of pregnancy.

Inheritance of pericentric inversion in chromosome 7 through the three progenies and a newborn with congenital hydronephrosis diagnosed prenatally by fetal urine sampling.

Objective: To report the inheritance of a pericentric inversion in chromosome 7 through the three progenies, congenital hydronephrosis, and recurrent miscarriages in an extended family.

Design: Case report.

Setting: Medical Faculty of Cukurova University in Turkey.

Cytogenetic study of recurrent miscarriages and their parents.

There are substantial evidences that genetic alterations are contributing factors to the risk for recurrent miscarriages. This study was conducted to determine the frequency and contribution of chromosomal abnormalities in miscarriages and in couples with recurrent miscarriages. We studied a total of 41 miscarriages and their parents with a history of 2-11 recurrent miscarriages.