Prevalence of thromogenic gene mutations in women with recurrent miscarriage: A retrospective study of 1,507 patients

OBJECTIVE: Thromogenic gene mutations has been thought to be associated with recurrent pregnancy loss in women in Turkey. The aim of this study was to investigate the prevalence of thromogenic gene mutations such as factor V Leiden (FVL, G1691T), prothrombin (G20210A), and the methylene tetrahydrofolate reductase (MTHFR, C677T) mutation in women with recurrent pregnancy loss. METHODS: This descriptive study was carried out in the Department of Obstetrics and Gynaecology, Harran University School of Medicine, and included a total of 1,507 women with histories of recurrent pregnancy loss between January 2010 and June 2013. The mutations were assessed by using the polymerase chain reaction. RESULTS: The homozygous mutation frequencies of FVL, prothrombin, and MTHFR were found to be 3 (0.20%), 0 and 125 (8.29%), and the heterozygous mutation frequencies were 83 (5.51%), 61 (4.05%), and 612 (40.61%), respectively. Among the 86 FVL mutation patients, 38 also had accompanying prothrombin and MTHFR mutations. CONCLUSION: Since the homozygous forms of the FVL-prothrombin gene mutations have low incidences and MTHFR mutation is similar to a healthy population, preconceptional thromogenic gene mutations screening seems to be controversial.

Lack of Association between PTPN22 Gene +1858 C>T Polymorphism and Susceptibility to Generalized Vitiligo in a Turkish Population

BACKGROUND: Vitiligo is an autoimmune polygenic disorder characterized by loss of pigmentation due to melanocyte destruction. The PTPN22 gene +1858 C>T single nucleotide polymorphism (rs2476601) has been shown to be associated with various autoimmune disorders. OBJECTIVE: The aim of this study was to investigate whether the PTPN22 gene +1858 C>T single nucleotide polymorphism is associated with susceptibility to generalized vitiligo in a Turkish population. METHODS: One hundred and seven patients with generalized vitiligo, and one hundred and twelve gender-, age-, and ethnic-matched controls were enrolled in the study. Genotyping was done by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: The PTPN22 +1858 C>T genotype and allele frequencies of the generalized vitiligo patients did not differ significantly from those of healthy controls. CONCLUSION: We found no association between the PTPN22 +1858 C>T gene polymorphism and vitiligo susceptibility in Turkish generalized-vitiligo patients.

Tuberous sclerosis presented with polycystic kidney disease and acute renal failure

Tuberous sclerosis complex [TSC] is an autosomal dominant disorder characterized by hamartomatous involvement of multiple organs such as the skin, central nervous system, kidneys, lungs, and heart. A linkage has been found with a locus on the long arm of chromosome 9 [9q34] and with a locus on the short arm of chromosome 16 [16p13]. TSC has a birth incidence of 1/6000. Children with TSC are almost universally born with normal kidneys, but cystic disease and angiomyolipomas develop with increasing age. Angiomyolipomas, renal cysts, and renal cell carcinoma are classical features of renal involvement in TSC. Renal complications are the most common cause of death in adult TSC patients, thus renal involvement has a crucial importance on the course of this disease. We present a 27-year-old patient previously diagnosed as tuberous sclerosis complex and referred with acute renal failure and polycystic kidney disease