Advances in Molecular Characterization and Targeted Therapy in Dermatofibrosarcoma Protuberans

The molecular pathogenesis of dermatofibrosarcoma protuberans (DFSP) involves distinctive rearrangement of chromosomes 17 and 22 leading to formation of the COL1A1-PDGFB fusion gene. The knowledge of molecular events underlying development of DFSP resulted in the implementation of targeted therapy with imatinib—a tyrosine kinase inhibitor (TKI), to the clinical practice. The striking efficacy of imatinib in advanced cases of DFSP has been demonstrated in a few clinical trials. Thus, imatinib is currently considered the gold standard in the treatment of inoperable and/or metastatic and/or recurrent cases of DFSP. Therapy with imatinib may potentially facilitate resection or decrease possible disfigurement related to radical surgical procedure. Following partial response on imatinib significant percentage of patients may be rendered free of the disease by surgery of the residual tumor

The Y-chromosome C3* star-cluster attributed to Genghis Khan\u27s descendants is present at high frequency in the Kerey clan from Kazakhstan

In order to verify the possibility that the Y-chromosome C3* star-cluster attributed to Genghis Khan and his patrilineal descendants is relatively frequent in the Kereys, who are the dominant clan in Kazakhstan and in Central Asia as a whole, polymorphism of the Y-chromosome was studied in Kazakhs, represented mostly by members of the Kerey clan. The Kereys showed the highest frequency (76.5%) of individuals carrying the Y-chromosome variant known as C3* star-cluster ascribed to the descendants of Genghis Khan. C3* star-cluster haplotypes were found in two sub-clans, Abakh-Kereys and Ashmaily-Kereys, diverged about 20-22 generations ago according to the historical data. Median network of the Kerey star-cluster haplotypes at 17 STR loci displays a bipartite structure, with two subclusters defined by the only difference at DYS448 locus. It is noteworthy that there is a strong correspondence of these subclusters with the Kerey sub-clans affiliation. The data obtained suggest that the Kerey clan appears to be the largest known clan in the world descending from a common Y-chromosome ancestor. Possible ways of Genghis Khan‟s relation to the Kereys are discussed

Subcutaneous T-Cell Lymphoma. A Clinical and Histopathologic Study of An Additional Case

A case of a 62-year-old woman with recurrent subcutaneous nodules, fever and pancytopenia diagnosed as subcutaneous T-cell lymphoma is presented. Incision biopsy revealed lobular panniculitis with an inflammatory infiltrate of atypical T lymphocytes. She was treated with 7 courses of CHOP with transient remission, and she died af ter 17 months of disease from fatal hemorrhagic com plications due to the hemophagocytic syndrome

Placenta percreta leading to uterine rupture at 18 weeks of pregnancy with consecutive hysterectomy: a case report

A 26-year-old woman in the fourth pregnancy with a history of two Cesarean sections and one dilation and curettage was admitted to the hospital at 18 weeks of gestation with acute abdominal pain. Life-saving laparotomy revealed uterine rupture and placental invasion into the uterine wall. Supracervical hysterectomy was performed. This case shows that pathological placentation due to previous cesarean sections may be the cause of uterine rupture

Uretero-vaginal fistulas — clinical presentation, treatment and literature overview

A uretero-vaginal fistula (UVF) describes an abnormal connection between the ureter and vagina causing urinary incontinence, frequent infection, and discomfort. Although UVF might be diagnosed after vaginal delivery, infertility treatment or pelvic radiation therapy, gynecological operations, especially total abdominal hysterectomy, remain the leading cause of ureteral injury and formation of UVF. Traditional ureteroneocystostomy was usually the treatment of choice in patients with UVF. Nevertheless, it is now frequently replaced by less invasive endoscopic and percutaneous procedures which are also highly effective and feasible. That is why, ureteral stenting became the first-line treatment in uncomplicated UVF. The aim of this review is to present clinical presentation of UVF and to assess the current state of knowledge about the diagnosis and management of uretero-vaginal fistula with special interest on minimally-invasive methods

DNA Damage/Repair and Polymorphism of the hOGG1 Gene in Lymphocytes of AMD Patients

Oxidative stress is thought to play a role in the pathogenesis of age-related macular degeneration (AMD). We determined the extent of oxidative DNA damage and the kinetics of its removal as well as the genotypes of the Ser326Cys polymorphism of the hOGG1 gene in lymphocytes of 30 wet AMD patients and 30 controls. Oxidative DNA damage induced by hydrogen peroxide and its repair were evaluated by the comet assay and DNA repair enzymes. We observed a higher extent of endogenous oxidative DNA damage and a lower efficacy of its repair in AMD patients as compared with the controls. We did not find any correlation between the extent of DNA damage and efficacy of DNA repair with genotypes of the Ser326Cys polymorphism. The results obtained suggest that oxidative DNA damage and inefficient DNA repair can be associated with AMD and the variability of the hOOG1 gene may not contribute to this association