Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings.

Background: Chromosomal microarray analysis is an essential tool for copy number variants detection in patients with unexplained developmental delay/intellectual disability, autism spectrum disorders, and multiple congenital anomalies. The study aims to determine the clinical significance of chromosomal microarray analysis in this patient group. Another crucial aspect is the evaluation of copy number variants detected in terms of the diagnosis of patients.

First Clinical Report of Two Pathogenic Variant in Warburg Micro Syndrome.

Warburg micro (WARBM) syndrome is an autosomal recessive disease characterized by severe brain and eye abnormalities. Loss-of-function mutations in RAB18, RAB3GAP2, RAB3GAP1, or TBC1D20 can lead to this disease. Here, we present two unrelated WARBM syndrome patients who had an RAB3GAP1 c.

Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

BRCA1/2 mutations play a significant role in cancer pathogenesis and predisposition particularly in breast, ovarian and prostate cancers. Thus, germline analysis of BRCA1 and BRCA2 is essential for clinical management strategies aiming at the identification of recurrent and novel mutations that could be used as a first screening approach. We analyzed germline variants of BRCA1/2 genes for 2168 individuals who had cancer diagnosis or high risk assessment due to BRCAs related cancers, referred to 10 health care centers distributed across 7 regions covering the Turkish landscape.

Troponin Elevation in Sickle Cell Disease.

Objective: Sickle cell disease is associated with cardiovascular abnormalities. Troponin is not typically measured in this population, and thus the significance of abnormal levels of troponin is unknown. We wanted to evaluate the use of troponin and factors that predispose troponin elevation in patients admitted with sickle cell pain crisis (SCPC).

Retention of luting agents used for implant-supported restorations: A comparative study.

Aims: The aim of this study was to compare the retention of different luting agents used with implant-supported restorations.

Materials And Methods: A total of 90 custom metal frameworks and copings were prepared and divided into six different luting agent groups (n = 15/group): polycarboxylate cement (PC), resin-modified glass-ionomer cement (RMGIC), two self-adhesive resin cements (SARC), copper-ion zinc-phosphate cement (CZPC), and non-eugenol temporary resin cement (TRC). After sandblasting with 50 μm AlO, the copings were cemented on frameworks and stored in artificial saliva for 48 h at 37°C and thermocycled between 5-55°C for 37,500 cycles.