CHROMOSOMAL ABNORMALITIES AND Y CHROMOSOME MICRODELETIONS IN BULGARIAN MALE WITH AZOOSPERMIA OR SEVERE OLIGOSPERMIA

Male infertility is a complex disease, and genetic abnormalities are among the main causal factors for the disorder. Aim: In order to evaluate the proportion of the most common genetic factors in etiology of male infertility, examination for chromosomal abnormalities and microdeletions of Yq chromosome (delYq) was carried out in Bulgarian males with severe infertility. Materials and methods: The study was retrospective and involved a total of 142 infertile Bulgarian males (63 patients with azoospermia and 79 patients with severe oligozoospermia /sperm count < 5×106/ml), referred (2007-2016) for genetic testing, after preliminary examinations to exclude some more frequent causes for male infertility. Cytogenetic analysis by GTG-banding was carried out in 137 men, and molecular testing for AZF region microdeletions of Y chromosome by multiplex PCR was carried out in 109 men. Results: Chromosomal abnormalities were found in 16.8% of all investigated infertile men and the frequencies in patient subgroups with azoospermia and oligozoospermia were 20.7% (12/58) and 13.9% (11/79) respectively. The established frequency of delYq was 5.5% (6/109) in the overall group of infertile male and higher - 9.5% (6/63) in a subgroup of patients with azoospermia.The overall proportion of the two genetic factors was 30.2% in patients with azoospermia and 14% in men with oligozoospermia. In conclusion, chromosomal abnormalities and delYq account for about 22% of cases with severe infertility in Bulgarian men. Genetic testing should be a routine part of examinations in infertile males and along with genetic counseling; they provide an opportunity for the best choice of an appropriate technique for assisted reproduction of the couples

Thromboprophylaxis during pregnancy for prevention of adverse complications in patients with inherited thrombophilia: a literature review

Compared with non-pregnant women, pregnancy alone carries a three- to fivefold higher risk of venous thromboembolism (VTE). Despite the increasing use of low-molecular-weight heparin in identified high-risk patients, pulmonary embolism is still the leading cause of maternal mortality. However, evidence for optimal use of thromboprophylaxis is scarce. Thrombophilia (hereditary or acquired) is thought to predispose to both VTE and is also associated with complications of pregnancy, such as recurrent miscarriages and preeclampsia. This review discusses the current evidence for optimal thromboprophylaxis during pregnancy by focusing primarily on VTE prevention strategies, the potential to prevent recurrent complications during pregnancy with low molecular weight heparin (LMWH), aspirin, and Nattokinase in pregnant women with congenital thrombophilia

SNEDDON’S SYNDROME

Sneddon’s syndrome is usually characterized by the association of an ischemic cerebrovascular disease and a widespread livedo reticularis. The incidence of Sneddon syndrome is 4/1000 000. We present 42-year-old woman with livedo reticularis, recurrence ischaemic cerebrovascular accidents, two repetitive miscarriages and positive anti-2GPi antibodies. Skin biopsy specimens reveal inflammatory changes of small- to medium-sized arteries and subendothelial proliferation and fibrosis. The diagnosis Sneddon syndrome is confirmed by skin biopsy, and MR evidence. We suggest that anti-2GPi antibodies may be pathophysiologically related to the clinical manifestation observed in some patients with Sneddon syndrome