COL1A1 SP1 binding site polymorphism is associated with otosclerosis in two independent populations

Otosclerosis is one of the most common causes of acquired hearing loss. Although the etiology of otosclerosis is unknown, there is a well established genetic predisposition. One of the most important candidate genes is the collagen type I-a1 gene [COL1A1]. A single nucleotide polymorphism affecting a binding site for the transcription factor Sp1 in COL1A1 has been associated with an increased risk of otosclerosis. To verify the possible association between the polymorphism of the Sp1 binding site of COL1A1 and otosclerosis. Polymerase chain reaction followed by restriction enzyme digestion was used to determine the polymorphic distribution of the COL1A1 Sp1 binding site in patients with otosclerosis and in control subjects. In the first part of the study, we enrolled 89 Egyptian otosclerotic patients and 89 healthy control subjects. The second part was conducted in Switzerland, on 52 patients with otosclerosis and 52 controls. The Sp1 allelic frequencies in the Egyptian and Swiss populations were very similar. The T allele frequencies were 0.36 and 0.33 in patients from Egypt and Switzerland, respectively. However, among the controls, the frequency was 0.14 in the Egyptians and 0.13 in the Swiss subjects. This study showed a significant association between otoscierosis and the T allele in the Egyptian population [p< 0.0001]. Analysis of the independent Swiss population replicated this association [p= 0.0005]. The study confirms the association of COL1A1 Sp1 binding site polymorphism with the risk of otosclerosis

Evaluation of different diagnostic modalities of genital tuberculosis among infertile women

Objective: to estimate the frequancy of genital tuberculosis [T.B] among infertile women undergoing laparoscopic evaluation in El Minia University Hospital.-Secondly to assess different diagnostic modalities of genital T.B

Design: a prospective study

Setting: Department of Obstetrics and Gynacolgy, Department of Pathology and Department of Microbiology, Faculty of Medicine, Minia University

Methods: 150 infertile women undergoing laparoscopy were included into the study from December 2003 to September 2005, Laparoscope criteria of genital T.B were observed, any suspicious lesions for T.B. adnexities or peritonitis were biopsied, peritoneal fluid was obtained for detection of mycobacteria by automated radiometric BACTEC 460 system and culture in Lowenstein Jensen medium [L.J], lastly Whole endometrial curettage was taken for histopathology

Results: the incidence of genital T.B as diagnosed by Laparoscopy was 8% among study group, the incidence of positive patients was more among rural, low socioeconomic and low educational level patients. Both laparoscopic findings confirmed by biopsy and BACTEC showed high sensitivity and specificity [93-95%] compared to endometrial biopsy [81-83%] and culture in L.J [72-76%] for diagnosis of genital T.B. Moreover BACTEC showed shorter detection time than L.J

Conclusion: it is essential for a gynecologist working in developing countries to anticipate possibility of genital T.B in infertile patients. For the diagnosis of genital T.B the simultaneous use of BACTEC and L.J is recommended to provide maximal optimal recovery of isolates from clinical specimens. The time-Saving in BACTEC provides an excellent facility for gynecologists in patient's management

Juvenile otosclerosis

Stapes surgery for correction of conductive hearing loss in children is a scarcely done procedure so we aimed to report on the outcome of this surgery and to determine the optimal timing for stapedectomy in juvenile otosclerosis, Twenty two children and three adults suffering from juvenile onset otoeclerosis were operated upon. The junction of the anterior crus and the footplate of the stapes were harvested and prepared for both ultathin histological and electron microscopic study. The hearing results pre, and postoperatively were compared. Closure of the air-bone gap to less than 10dB was achieved in 73%of the operated upon children while in 23% it was from 10-20 dB and in the remaining 4% the closure of the air-bone gap was from 20-30dB. The ultrastructure and the histological study of the foot plate of the stapes revealed that with more lapse of time there is more hardening of the Footplate of the stapes. Stapedectomy is a safe and effective option in juvenile otosclerosis and by deferring stapedectomy until adulthood, the degree of footplate pathology increases