Presence of the AZF region in a female with an idic(Y)(q11)

In a child with some features of Turner's syndrome, gonosomal mosaicism with an isodicentric nonfluorescent (idic)Y chromosome was detected (mos 45,X/47,X,idic(Y)(q11),idic(Y)(11)/46,X,idic(Y)(q11)). Histopathological examination showed streak gonads with some evidence of ovarian stroma and no sign of gonadoblastoma. Polymerase chain reaction (PCR) analysis in blood lymphocytes and gonadal tissues using primers of seven loci along the Y chromosome, including the sex determined region (SRY), azoospermia factor region (AZF) and the deleted in azoospermia ( DAZ ) gene was positive for all loci tested, confirming the isodicentric character of the Y chromosome and indicating the presence of the AZF region. It is remarkable that the existence of spermatogenesis controlling genes does not play an important role in gonadal development and differentiation in a phenotypic female with some Turner stigmata. The data presented here are briefly discussed with previously-described patients.     

RENAL TRANSPLANTATION – AN EARLY EXPERIENCE

Renal transplant (RT) is now a therapy of choice for end stage renal disease (ESRD). The Nephrology Unit, Asvini started functioning in Dec 90 and to date 1298 sittings of hemodialysis have been given to 45 patients. Of these, 35 were in ESRD and 11 patients underwent renal transplantation at this hospital during the period Jan 91 – Dec 93. One patient expired after 18 months of transplantation due to infection. Early experience in screening patients for RT, use of immunosuppression, management of rejection episodes and protocol are presented with special emphasis on its relevance to the Armed Forces.KEY WORDS: Transplantation, Renal Failure, Immunosuppression, Rejection     

Complications of trans-sphenoidal surgery: the Wellington experience

BACKGROUND: All patients who underwent trans-sphenoidal surgery between January 1984 and December 1998 were reviewed to assess morbidity resulting from this operation. METHODS: There were 185 operations on 165 patients. The operative approach was sublabial in 80 cases and transnasal in 105. One surgeon (VB) performed the vast majority of operations. RESULTS: Complications included nasal perforation (7.6%), transient diabetes insipidus (4.9%), permanent diabetes insipidus (3.8%), cerebrospinal fluid fistula (4.3%), donor site haematoma (2.2%) and residual tumour haemorrhage (1.6%) causing ophthalmoplegia (1.1%) and loss of vision (1.1%). Other complications included epistaxis (1.1%), meningitis (0.5%) and sinusitis (0.5%). Injury to the anterior superior alveolar nerve also occurred in the sublabial approach in 6.3% of patients. There were no perioperative deaths. CONCLUSIONS: There is a small but significant risk of a number of complications that should be considered for informed consent of this procedure.     

Endoscopic KTP-532 laser assisted diverticulotomy for Zenker's diverticulum

Zenker's diverticulum, though counnon in western countries is uncommon in India. This diverticuham is an extension of umcosa through Killian's dehiscence. Various surgical methods have been described for the treatment of this condition including the use of lasers but none in Indian Journals. In this paper we describe a case of Zenker's diverticulum where diverticulotomy using KTP532 laser was successfully performed. Its advantages over other techniques are mentioned.     

Door to balloon time in patients presenting with acute ST elevation myocardial infarction and time factors influencing it; an observational study from a tertiary care teaching hospital in India

The objective of this prospective observational study was to assess the door-to-balloon time (D2B), in acute ST-segment elevation myocardial infarction (STEMI) patients and the time factors influencing it. The following timeframes were measured during the study: ED to ECG time, ED to coronary care unit time (ED2CCU), consent time, post-consent to balloon time (POSTCONSENT2B) and D2B. Effective D2B was 54 ± 12.2 min. Of the dependent variables, D2B had a strong positive correlation (ρ = 0.903) with consent time. This study sheds light on consent time a previously unrecognized entity as a significantly influencing factor for the D2B time.