Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive nonsyndromic hearing loss. Because of the high frequency of GJB2 mutations, mutation analysis of this gene is widely available as a diagnostic test. In this study, we assessed the association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations. We performed cross-sectional analyses of GJB2 genotype and audiometric data from 1,531 persons, from 16 different countries, with autosomal recessive, mildto-profound nonsyndromic HI. The median age of all participants was 8 years; 90% of persons were within the age range of 0-26 years. Of the 83 different mutations identified, 47 were classified as nontruncating, and 36 as truncating. A total of 153 different genotypes were found, of which 56 were homozygous truncating (T/T), 30 were homozygous nontruncating (NT/NT), and 67 were compound heterozygous truncating/nontruncating (T/ NT). The degree of HI associated with biallelic truncating mutations was significantly more severe than the HI associated with biallelic nontruncating mutations (). The HI of 48 different genotypes was less severe P ! .0001 than that of 35delG homozygotes. Several common mutations (M34T, V37I, and L90P) were associated with mildto-moderate HI (median 25-40 dB). Two genotypes-35delG/R143W (median 105 dB) and 35delG/dela(GJB6-D13S1830) (median 108 dB)-had significantly more-severe HI than that of 35delG homozygotes.

Despite research the role of the M34T and V37I variants of GJB2 in causing hearing impairment (HI) remains controversial. Our purpose was to test a hypothesis that M34T and V37I are pathogenic but have distinct features resulting in a reduced penetrance. We screened for known GJB2/GJB6 mutations 233 Polish consecutive unrelated subjects with non-syndromic, sensorineural HI who were previously found to carry 35delG mutation on one chromosome. The most frequent mutations were also analyzed in approximately 1,000 controls. We found that M34T and V37I were significantly (P << 10(-6)) overrepresented among patients, but their penetrance was estimated as 1/10 relative to mutations of undisputed pathogenicity. This finding apparently could not be explained by low degree of HI associated with M34T and V37I since another mutation causing comparably mild HI (L90P) did not have reduced penetrance. Subsequent analyses showed that the patients with M34T/35delG and V37I/35delG had significantly later onset of HI than patients with other genotypes (P < 10(-6)) including the L90P/35delG (P = 0.006). Also, among these patients (but not others) a strong correlation between the degree of HI and its duration was found (r = 0.79, P < 10(-5)). We tentatively suggest that M34T and V37I might cause mild HI characterized by relatively late onset and progression.

Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syndromic HL. Mutations in GJB2 cause up to half of all cases of severe-to-profound congenital autosomal recessive non-syndromic HL, with 35delG being the most frequent mutation in Caucasians. Although a genotypephenotype correlation has been established for most GJB2 genotypes, the HL of 35delG homozygous patients is mild to profound. We hypothesise that this phenotypic variability is at least partly caused by the influence of modifier genes. By performing a whole-genome association (WGA) study on 35delG homozygotes, we sought to identify modifier genes. The association study was performed by comparing the genotypes of mild/moderate cases and profound cases. The first analysis included a pooling-based WGA study of a first set of 255 samples by using both the Illumina 550K and Affymetrix 500K chips. This analysis resulted in a ranking of all analysed single-nucleotide polymorphisms (SNPs) according to their P-values. The top 250 most significantly associated SNPs were genotyped individually in the same sample set. All 192 SNPs that still had significant P-values were genotyped in a second independent set of 297 samples for replication. The significant P-values were replicated in nine SNPs, with combined P-values between 3 Â 10 À3 and 1 Â 10 À4 . This study suggests that the phenotypic variability in 35delG homozygous patients cannot be explained by the effect of one major modifier gene. Significantly associated SNPs may reflect a small modifying effect on the phenotype. Increasing the power of the study will be of greatest importance to confirm these results.

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2 the aim of the study was to present our own results of low-invasive treatment of breast abscess in lactating women. material and methods. 72 lactating women with severe mastitis were treated. In 22 cases abscess formations were observed, accompanied by local pain, tenderness, breast asymmetry and skin reddening. Ultrasonographic examinations confirmed the presence of typical image of an abscess, from 3.3 to 8.2 cm in diameter. The proposed procedure consisted in abscess aspiration biopsy guided by ultrasonography. A soft 1.5mm latex catheter was inserted into the abscess, and antiseptic lavage was made to evacuate puss. Medical control was performed on the second, fourth and seventh days after the procedure. The drain was usually removed after four or seven days. results. In 21 cases the abscesses were healed without complications. During the treatment women fed their babies with the breast under treatment. No milk retention was noted, and there were no problems with breast-feeding. All the women highly appreciated aesthetic effect of the treatment -three months later no visible scars or breast deformations were noted. This treatment failed in one case, then we had to perform more aggressive surgical treatment: an incision and drainage performed under general anesthesia with farmacological suppression of lactation. conclusions. 1. Low invasive treatment of breast abscess in lactating women can lead to successful treatment without drug-induced blockade of lactation. 2. The results of treatment and visual effects are very good. 3. This method are comfortable for the patients, the suckling babies ( there no significant problems during twelve days cure ), and can reduce the cost of treatment Key words: breast abscess, low-invasive treatment, lactating women Mastitis in lactating woman is observed in 1.5 to 9% of cases. In spite of correct treatment of such pathologies, some cases are complicated by abscess formation (8-66%). Hence, breast abscesses are one of most common diseases in this group, and they require surgical treatment (1, 2).Typical surgical procedure consists in incision and drainage with drug-induced blockade of lactation (3). Unfortunately, such treatment could provoke postoperative complications, unsightly scar formation and lead to a negative effect for the suckling, resulting from the giving-up of breast-feeding (4).The aim of the study: presentation of our own results of low-invasive treatment of breast abscess in lactating women. MATERIAL AND METHODS72 lactating women with severe mastitis were treated in the Outpatient Clinic of St