combination of IVS2.849 A-G witH IVS1.1 G-A: a mutation of beta-globin gene in a Turkish beta-thalessemia major patient.

Beta-thalassemia, which is an autosomal recessive disease, is among the most common hemoglobinopathies in Antalya, Turkey. Mutations found in Turkish beta-thalassemia patients constitute a heterogeneous group, which is mostly composed of point mutations and, only in very rare cases, a deletion or an insertion causes affected or carrier phenotypes. Reverse dot blot hybridization (RDBH) method is used for screening common mutations, and sequence analysis and silver staining were performed consecutively to detect any uncommon mutation. The authors report a first Turkish family with a rare variant--intervening sequence 2 (IVS2) 849 (A-G). The proband's mother and father were determined as carriers of IVS2.849 (A-G) and IVS1.1 (G-A) mutations, respectively. Proband is the first child of the family and she has an IVS2.849 (A-G)/IVS1.1 (G-A) genotype with ss-thalassemia major phenotype. Prenatal diagnosis was performed for the second child, and genotype of the fetus was determined as IVS2.849 (A-G)/Normal. This first report of IVS2.849 (A-G) mutation in Turkish population shows that there are many more mutations contributing the heterogeneity of the mutation spectrum of beta-globin gene in the Turkish population, which indicates migrations of different ethnic origins.

AZF microdeletions on the Y chromosome of infertile men from Turkey.

Intervals V and VI of Yq11.23 regions contain responsible genes for spermatogenesis, and are named as "azoospermia factor locus" (AZF). Deletions in these genes are thought to be pathogenetically involved in some cases of male infertility associated with azoospermia or oligozoospermia. The aim of this study was to establish the prevalence of microdeletions on the Y chromosome in infertile Turkish males with azoospermia or oligozoospermia. We applied multiplex polymerase chain reaction (PCR) using several sequence-tagged site (STS) primer sets, in order to determine Y chromosome microdeletions. In this study, 61 infertile males were enrolled for the molecular AZF screening program. In this cohort, one infertile male had 46,XX karyotype and the remaining had 46,XY karyotypes. Forty-eight patients had a diagnosis of azoospermia and 13 had oligozoospermia. Microdeletions in AZFa, AZFb and AZFc (DAZ gene) regions were detected in two of the 60 (3.3%) idiopathic infertile males with normal karyotypes and a SRY translocation was determined on 46,XX male. Our findings suggest that genetic screening should be advised to infertile men before starting assisted reproductive treatments.

Does interstitial cystitis urine include possible factors effecting the nociceptive system of the spinal cord?

INTRODUCTION: We investigated the effect of interstitial cystitis (IC) urine on bladder layers and nociceptive centers in the spinal cord with determination of nerve growth factor (NGF), neuronal nitric oxide synthase (nNOS) and c-fos expressions. MATERIAL AND METHODS: Female rats were instilled into the bladder IC urine (Group-IC), normal urine (Group-NU) and saline (Group-S). NGF, nNOS and c-fos activity were determined in the L6-S1 medulla spinalis with identification of mast cell and NGF activity on bladder layers. RESULTS: There was more NGF expression cell density in the bladder wall that was determined immunohistochemically in control and IC urine instillation groups than Group-S. While there was no difference in nNOS, NGF and c-fos activity between spinal cord regions except the lateral dorsal horn of the L6 section, localization of activities was different in Group-IC. CONCLUSIONS: The characteristics of the bladder wall and its nociceptive afferents after human urine instillation of some toxic compounds might be causative factors for IC. However, it is barely hard to conclude that different toxic compounds should be causative factors in IC urine in the pathogenesis of IC.

Tenascin expression in normal, hyperplastic, and neoplastic endometrium.

Tenascin (TN) is an extracellular matrix glycoprotein (ECM) that participates in embryogenesis and carcinogenesis. The aim of this study was to investigate immunohistochemically the expression of TN in the normal, hyperplastic, and neoplastic endometrium (endometrial adenocarcinoma). In the adenocarcinomas, the results were correlated with patient age, menopausal status, stage, grade, myometrial invasion, and vascular invasion. TN expression was studied in the following cases: proliferative endometrium (10 cases), early secretory endometrium (10), secretory endometrium (10), simple hyperplasia (15), complex hyperplasia (15), atypical hyperplasia (15), and endometrial adenocarcinomas (25). Staining of basal membranes and the cytoplasm of the stromal and epithelial cells was evaluated semiquantitatively. Positive staining was observed in the vascular and glandular basal membranes, stromal cells, and epithelial cells of proliferative, hyperplastic, and neoplastic endometrium. The difference in percentage of stained stromal cells between the neoplastic and the nonneoplastic (proliferative and hyperplastic) endometrium was significant (p<0.005). However, the percentage of stained epithelial cell area in hyperplasia was significantly higher than that of adenocarcinoma and functional endometrium (p<0.005). We conclude that TN is an extracellular matrix glycoprotein that plays a role in proliferation and possibly endometrial carcinogenesis.

Expression of extracellular matrix proteins and vimentin in testes of azoospermic man: an immunohistochemical and morphometric study.

AIM: To investigate the changes in the extracellular matrix protein expression and the morphology of seminiferous tubules in the testis of 88 azoospermic men. METHODS: The patients were of the following categories: (1) 22 cases of Sertoli-cell-only syndrome, (2) 20 cases of spermatogenic arrest, and (3) 46 cases with hypospermatogenesis. Testicular sections were immunohistochemically stained for fibronectin, vimentin, laminin and collagen type IV. The seminiferous tubular diameter and the connective matrix zone (CMZ, the acellular zone between the basement membrane [BM] and the peritubular cells) thickness were measured. Seminiferous tubules were typed according to the thickness of the connective matrix in the lamina propria. The predominant tubule type and the Johnsen and Silber scores were determined. RESULTS: The mean tubular diameter were 119 +/- 27, 117 +/- 20, and 140 +/- 38 microm for Groups 1, 2, and 3, respectively. Both the laminin and the type IV collagen were localized to the epithelial BM and peritubular cells. In most of the tubules, BM and peritubular cells were separated by a homogenous acellular layer, the CMZ, in which laminin, type IV collagen, fibronectin and vimentin were not present. It is perceived that the worse the testicular histology, the higher the thickness of the CMZ. CONCLUSION: In testis with no or low sperm production, the diameter of the seminiferous tubules is decreased, the thickness of the seminiferous tubular wall is increased and a CMZ is formed between the peritubular cells and the BM. The thickness of CMZ is increasing with the advancement of testiclar deterioration. The most important morphologic predictive factor for spermiogenesis is the predominant