Y Chromosome Material in Turner Syndrome.

Background Turner Syndrome (TS) is a frequently identified chromosomal disease in humans characterized by short stature, sexual infantilism, streak gonads, primary amenorrhea, and a number of somatic anomalies. Approximately 55% of TS individuals have a nonmosaic 45,X karyotype. In addition, a cell line with a Y chromosome is present in 5% of patients, which is undetectable by the standard cytogenetic analysis.

Genetic IGF1R defects: new cases expand the spectrum of clinical features.

Purpose: We aimed to identify the phenotypic variability of IGF1R defects in a cohort of short children with normal GH secretion gathered through the last decade.

Patients And Methods: Fifty children (25 girls) with short stature and a basal/stimulated growth hormone (GH) over 10 ng/ml having either a low birth weight or microcephaly were enrolled. MLPA and then Sanger sequence analysis were performed to detect IGF1R defects.

[Chromosome Analysis in the Assessment for Gender Affirmation Process: A Retrospective Study].

Objective: Gender dysphoria refers to the experienced discomfort related to the incongruence between gender identity and the sex assigned at birth. Current treatment approach for this clinical condition is gender affirmation procedures. International guidelines about gender affirmation do not recommend routine genetic evaluation.

Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center.

Kaykı G, Güçer Ş, Akçören Z, Orhan D, Talim B, Yurdakök M, Yiğit Ş, Boduroğlu OK, Utine GE, Örgül G, Beksac MS. Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center. Turk J Pediatr 2018; 60: 471-477.

The Value of Serum Prolidase Activity in Progression of Microalbuminuria in Patients With Type 2 Diabetes Mellitus.

Background: Prolidase is a cytosolic exopeptidase that plays a pivotal role in collagen turnover. Diabetic nephropathy (DN) is associated with structural changes in glomerular basement membrane accompanied with increased amounts of collagen. Prolidase is known to be abundant in kidney and collagen accumulation is increased in DN, so we aimed to determine the value of serum prolidase activity (SPA) in predicting the progression of nephropathy in type 2 diabetes mellitus (DM).

High serum concentration of interleukin-18 in diabetic patients with foot ulcers.

Background: It is well known that interleukin-18 (IL-18) plays a key role in the inflammatory process. However, there are limited data on the role IL-18 plays with diabetic foot ulcers, an acute and complex inflammatory situation. Therefore, we aimed to evaluate serum IL-18 levels of diabetic patients with foot ulcers.

Investigation of CTLA-4 and CD28 gene polymorphisms in patients with diabetes mellitus type 2 using PCR-RFLP in a Turkish population.

Objective: The aim of this study is to investigate whether specific polymorphisms in the CTLA-4 and CD28 gene are associated with Type 2 diabetes mellitus (T2DM).

Methods: Blood samples were collected from 241 individuals (72 patients with T2DM and 169 healthy individuals) and DNA was isolated. A polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect the frequencies of CTLA-4 NM_005214.

Prevalence and importance of amebic infestation in patients with ulcerative colitis in two regions in Turkey.

We investigated the prevalence of amebiasis in patients with ulcerative colitis residing in two geographical regions with different socioeconomic status and climatic conditions, and its effect on the age of onset, duration, localization, and activity of disease. Ninety patients from a high socioeconomic location (group I) and 28 cases from a low socioeconomic location (group II) were enrolled. Median age at disease onset was significantly higher in group I compared with in group II.