Investigation of Toll-Like Receptor-2 (2258G/A) and Interferon Gamma (+874T/A) Gene Polymorphisms among Infertile Women with Female Genital Tuberculosis.

BACKGROUND: Toll-like receptor 2 (TLR2) and interferon-gamma (IFN-γ) coordinate with a diverse array of cellular programs through the transcriptional regulation of immunologically relevant genes and play an important role in immune system, reproductive physiology and basic pathology. Alterations in the functions of TLR2 2258G (guanine)/ A, IFN-γ (+874T/A) and signalling molecules that result from polymorphisms are often associated with susceptibility or resistance, which may, in turn, establish the innate host response to various infectious diseases. Presently, we proposed to investigate the risk of common single nucleotide polymorphism (SNP) of TLR2 and IFN-γ genes, for their effect on infertility in women with female genital tuberculosis (FGTB) and healthy women as controls. METHODOLOGY/PRINCIPAL FINDINGS: Genotyping of TLR2 and IFN-γ gene polymorphisms was performed by amplification refractory mutation system multi-gene/multi-primer polymerase chain reaction followed by restriction fragment length polymorphism in 175 FGTB patients and 100 healthy control women (HCW). The TLR2 polymorphism [adenine (A) allele] was observed in 57.7 and 58.0% of FGTB patients and HCW, respectively. The IFN-γ (+874T/A) polymorphism (A allele) was significant in 74.3 and 71.0% of FGTB patients and HCW, respectively, while the odds ratios for the AA and TA genotypes for predisposition of FGTB were found to be 0.304 and 1.650 in HCW, respectively. The SNP of TLR2 was not associated with FGTB but the SNP of IFN-γ was found to be associated with mycobacteria infections and to induce infertility. CONCLUSIONS/SIGNIFICANCE: At present, we hypothesize that infertile women with FGTB and HCW without tuberculosis (TB) have identical frequency of TLR variants, which may be adequate in the production of IFN-γ in response to Mycobacterium tuberculosis infections. Thus, the study appears to be the first of its kind reporting a mutation in the IFN-γ gene [+874 T (thymine) to A] responsible for susceptibility to TB infections and further inducing infertility.

[Implication of laparoscopy in diagnostics of genital tb among women through cytohistological testing of bioptic specimen].

Diagnostics of genital TB among women is a serious challenge because of the absence of specific clinical manifestation and difficulty to obtain material for bacteriological verification of the pathogen. All the cases with ascites and masses in pelvic cavity must undergo thorough testing to exclude tuberculosis. The present article describes 14 suspect cases of genital TB, where along with the mandatory clinical diagnostic studies (including PCR of ascites and bacteriological testing for TB, also on carcinoma of CA-125 ovary) they have conducted laparoscopy, with further cytological and bacteriological testing of bioptic sample. This method allowed us to diagnose genital and abdominal tuberculosis among women in 85,7% of cases through cytologic and histologic testing and to exclude ovarian carcinoma. Effectiveness of laparoscopy has been confirmed in diagnostics of genital and abdominal TB.

[Polymerase chain reaction and ligase chain reaction in the diagnosis of gynecological tuberculosis]. / Polimeraznaia i ligaznaia tsepnaia reaktsiia v diagnostike ginekologicheskogo tuberkuleza.

The polymerase chain reaction (PCR) and the ligase chain reaction (LCR) were evaluated and compared on 55 gynecological samples collected from women with active gynecological tuberculosis (Group 1), gynecological diseases other than tuberculosis (Group 2), and active tuberculosis elsewhere in the body without evidence for gynecological tuberculosis (Group 3). Acid fast staining and culture of Mycobacteria appeared to be ineffective in all specimens. The sensitivity of both amplification methods was 94.7% (one of the 19 patients with non-tuberculosis). The LCx method showed a very high inhibition by specimens (64.1% of negative samples versus 16.7% for PCR and LCx could be useful tools in the diagnosis of gynecological tuberculosis.

Diagnosis of culture-negative female genital tract tuberculosis with peritoneal involvement by polymerase chain reaction.

BACKGROUND: Female genital tract tuberculosis (TB) is a common cause of infertility in developing countries. It is a paucibacillary form of the disease of which smears and cultures are usually negative. CASE: We were able to use polymerase chain reaction (PCR) amplification of Mycobacterium tuberculosis DNA to support a clinical and histologic diagnosis of a typical case of culture negative female genital tract TB. CONCLUSION: PCR may be a useful adjunct to diagnostic efforts in gynecologic tuberculosis.

Unusual breast masses. The sequential development of mammary tuberculosis and Hodgkin's disease in a young woman.

A left breast mass developed in association with pulmonary tuberculosis in a woman 26 years of age. Eight years later, rapidly fatal Hodgkin's Disease with chest wall erosion by involved mediastinal nodes simulating a breast lump developed. Subsequently, a discrete breast mass due to mammary Hodgkin's disease developed. Involvement of the breast by both tuberculosis and Hodgkin's disease, two diseases often associated with immune dysfunction, in a patient with dysmorphic features and a strong family history of tuberculosis, raises the possibility of an underlying genetic defect. This defect probably involves the immune system.