A Homozygous Deletion of the DPY19l2 Gene is a Cause of Globozoospermia in Men from the Republic of Macedonia.

Globozoospermia is a rare but severe teratozoospermia, characterized by ejaculates consisting completely of round-headed spermatozoa that lack an acrosome or, in partial globozoospermia, containing a variable proportion (20.0-90.0%) of acrosomeless spermatozoa. Men that are affected with total globozoospermia are infertile, and even the application of intracytoplasmic sperm injection (ICSI) has met with disappointingly low success rates. In humans, several case reports of globozoospermia have demonstrated that two or more siblings were affected in each family, which suggested a genetic component to this disease. Currently, three genes are known to be associated with total globozoospermia in humans, SPATA16 , PICK1 and DPY19L2 genes. Mutations in SPATA16 and PICK1 are rare causes of globozoospermia, found in only one patient each. Several studies have suggested that DPY19L2 mutations are the major cause of globozoospermia in patients from different ethnic origins and different geographic regions. The most common DPY19L2 mutation is the 200 kb deletion arising from a nonallelic homologous recombination (NAHR) between the flanking low copy repeats (LCRs). Here we describe the presence of a homozygous deletion of the DPY19L2 gene in two infertile Macedonian patients with 100.0% round headed spermatozoa, thus suggesting that this deletion represents a major cause of globozoospermia among Macedonian men.

Genetic variation of the brca1 and brca2 genes in macedonian patients.

The most significant and well characterized genetic risk factors for breast and/or ovarian cancer are germline mutations in the BRCA1 and BRCA2 genes. The BRCA1 and BRCA2 gene mutations strikingly increase breast cancer risk, suggesting that polymorphisms in these genes are logical candidates in seeking to identify low penetrance susceptibility alleles. The aim of this study was to initiate a screen for BRCA1/2 gene mutations in order to identify the genetic variants in the Republic of Macedonia, and to evaluate the association of several single nucleotide polymorphisms (SNPs) in these genes with breast cancer risk. In this study, we included 100 patients with invasive breast cancer from the Republic of Macedonia, classified according to their family history and 100 controls. The methodology included direct sequencing, single nucleotide primer extension method and multiplex ligation probe amplification (MLPA) analysis, all followed by capillary electrophoresis (CE) on an ABI PRISM™ 3130 Genetic Analyzer. We identified a total of seven carriers of mutations in the BRCA1/2 genes. None of the tested polymorphisms was associated with sporadic breast cancer risk, however, polymorphism rs8176267 in BRCA1 and N372H in BRCA2 showed an association with breast cancer risk in patients with at least one family member with breast cancer.

[Correlations between changes in hearing and cerebral hemodynamics in patients with chronic alcoholism]. / Korreliatsionnye sootnosheniia izmeneniia slukha i tserebral'noi gemodinamiki u lits, stradaiushchikh khronicheskim alkogolizmom.

Seventy eight chronic alcoholics, aged 19 to 50 years, were exposed to audiologic and rheoencephalographic examinations. Tone hearing impairment was found in all subjects. The recruitment or greater than normal increment of loudness was primarily identified in patients of Group 1 that comprised those who consumed alcohol from 1 to 10 years. Rheoencephalographic examinations showed decreases of the rheographic index as well as the tone of large and medium caliber arteries in all patients. Group 2 patients who consumed alcohol for more than 10 years displayed greater changes in the vessel tone than Group 1 patients. Analysis of rheoencephalographic waves demonstrated that peripheral and venous tone was decreased in Group 1 patients and increased in Group 2 alcoholics. Visual analysis of rheoencephalographic waves showed lability in the vessel tone of Group 1 patients and a trend for a vessel spasm in Group 2 patients. The results give evidence that Group 1 chronic alcoholics develop toxic lesions of receptors of the hearing organ which is confirmed by the occurrence of recruitment, sound perception impairment, close to normal speech discrimination and insignificant changes in cerebral hemodynamics. Group 2 alcoholics develop marked disorders in cerebral hemodynamics leading to changes in central and intermediate compartments of the hearing organ.