Two Novel CEBPA Mutations in a Turkish Patient with Acute Myeloid Leukemia.

Acute myeloid leukemia (AML) was first categorized in 1976 by French, American and British researchers, and divided into eight subgroups (M0 to M7), depending on the cytochemical or histological changes in the leukemic cells. The gene mutations of FLT3-ITD, CEBPA and NPM1 are the most common that cooperate together in the prognosis of AML. The CEBPA gene that is a hematopoietic transcription factor, is located on chromosome 19q13.11, and its prevalence is between 5.0 and 14.0% in AML. The patient was referred to our clinic suffering from menorrhagia, unplanned weight loss in a month and low platelet levels, and was diagnosed with AML on clinical and laboratory examination. Here, we report a patient carrying two novel pathogenic mutations that create a frameshift mutation on the CEBPA gene, c.940_941insCCGTCG TGGAGACGA CGAAGG and c.221_222delAC by Sanger sequencing methodology.

Male infertility after renal transplantation: achievement of pregnancy after intracytoplasmic sperm injection.

Chronic renal failure, dialysis, and immunosuppression after transplantation may cause reproductive failure. Although transplantation may reverse most sperm functions in the male, there is sufficient evidence in the literature that sperm motility may not be restored. Herein we present three cases with male factor infertility who underwent intracytoplasmic sperm injection (ICSI). There is a lack of evidence for use of ICSI for couples in whom the infertile husband had undergone renal transplantation. Case 1, a 25-year-old woman with a 7-year history of infertility had a 33-year-old husband, with asthenoteratospermia status-post renal transplantation 1 year prior. The wife delivered healthy twins at 36 weeks of gestation after three embryos were transferred. Case 2, a 34-year-old woman with infertility of 6 years, had a 34-year-old husband transplanted 2 years prior and hospitalized for chronic rejection during ICSI treatment. He had severe oligoasthenoteratozoospermia. She is currently 20 weeks pregnant with a singleton after transfer of two embryos. Case 3, a 31-year-old woman with a previous spontaneous abortion and 3 years of failure to conceive, had a 41-year-old husband status-post renal transplantation 16 years ago, currently in chronic renal failure treated with continuous ambulatory peritoneal dialysis. His sperm analysis showed oligoasthenoteratozoospermia. However, pregnancy did not occur after transfer of two embryos. Health status after renal transplantation influences sperm function. Because healthy sperm is required for fertilization and embryonic development, ICSI candidates after renal transplantation must be in optimum health.

Various manifestations of hyperphalangism.

Hyperphalangism is a rare congenital anomaly, with an extra phalanx between the phalanges in a finger. About 100 cases have been recorded in the literature. We report 42 cases in six generations of a family with various manifestations.

Confined placental mosaicism in term placentae: analysis of 125 cases.

In order to determine the incidence of confined placental mosaicism (CPM) in term placentae and to show the presence of specific sites and the effect on fetal development, 125 placentae from uneventful pregnancies were analysed by cytogenetic methods. The incidence was at least 4.8 per cent and there were no specific sites on the placenta. Although the number of cases is still too small, we found CPM to be associated with intrauterine growth retardation in six cases.