Non-immune therapy of IgA glomerulonephritis

Summary: The involvement of the IgA immune system and complement components in IgA glomerulonephritis (IgAGN) has prompted the use of immunosuppressive drugs in therapy, but none has so far been shown to alter the natural course of the disease. Because most patients with IgAGN present during the chronic phase of their illness, at the time when the initiating immune events may no longer be active, nonimmune therapy which targets the common pathway of progressive renal injury is likely to be more useful. There is increasing evidence that angiotensin-converting enzyme inhibitors (ACEI) reduce proteinuria and renal injury in patients with IgAGN, and this effect may be observed in both normotensive and hypertensive patients. Yet to be determined is whether this effect is specific for ACEI and whatever other effective antihypertensive drugs may achieve a similar result. Fish oil has recently been shown to retard the progression of renal failure in patients with aggressive IgAGN, but a narrow therapeutic window appears to exist for this form of treatment. Antiplatelet agents on their own appear to be ineffective but in combination with anticoagulation (low dose warfarin) have been shown to have an antiproteinuric effect and may preserve renal function in patients with progressive disease. Future directions of non-immune therapy of IgAGN include evaluation of the renoprotective effect of angiotensin II receptor antagonists, free-radical scavengers and antilipid drugs. More work should also be done to identify factors which put the patients at risk of developing progressive disease and which predict therapeutic response, as has been done recently with the identification of the deletion polymorphism of the angiotensin-converting enzyme gene as a marker of progressive disease and therapeutic response to ACEI in patients with IgAGN.     

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB

Usher syndrome is recognized as the most frequent cause of hereditary deaf-blindness. Usher syndrome type I (USH1), the most severe form of the disease, is characterized by profound congenital sensorineural deafness, constant vestibular dysfunction, and retinitis pigmentosa of prepubertal onset. This form is genetically heterogeneous and five loci (USH1A-E) have been mapped thusfar. However, only the gene responsible for USH1 B (which accounts for approximately 75% of USH1 cases) has been characterized. It encodes a long-tailed unconventional myosin, myosin VIIA, with a predicted 2215 amino acid sequence. Primers covering the complete myosin VIIA coding sequence as well as the 3' non coding sequence were designed, allowing direct sequence analysis of each of the 48 coding exons and flanking splice sites in seven patients affected by USH1. Four novel mutations were thereby identified. The possibility should now be considered of a sequence-based prenatal diagnosis in some of the families affected by this very severe form of Usher syndrome.      

ANEURYSM OF SINUS OF VALSALVA DISSECTING INTO THE INTERVENTRICULAR SEPTUM – ECHOCARDIOGRAPHIC DIAGNOSIS (A Case Report)

Aneurysm of sinus of Valsalva dissecting into interventricular septum is a rare entity. We report one such case who was incidentally diagnosed by echocardiography to have this abnormality during evaluation of a clinically suspected isolated aortic regurgitation.KEY WORDS: Aneurysm – dissecting – sinus of Valsalva, Echocardiography     

An audit of the quality of operation notes in an otolaryngology unit

Hand-written operation notes are often produced as evidence in medico-legal cases. Incomplete and illegible notes, along with the use of confusing abbreviations, are a common source of weakness in a surgeon's defence. An audit of 100 sets of operation notes was carried out in a single otolaryngology department. Notes were scrutinised for the accuracy of data, ward, department and name of surgeon, as well as for the inclusion of unacceptable abbreviations. Using an aide-memoire attached to the front of the operation sheet, the audit was repeated with identical criteria. The aide-memoire improved the standard of operation note with respect to all measured criteria. Clear identification of operating surgeon improved from 74% to 93%, and the avoidance of unacceptable abbreviations rose from 53% to 84%. We conclude that a simple aide-memoire attached to operation note sheets can significantly improve the quality of note-keeping and potentially avoid medico-legal problems.     

Screening and follow up assessment in three cases of auditory neuropathy.

Three children with auditory neuropathy are described. Two were detected via a targeted neonatal hearing screening programme based on auditory brain stem response testing, and one via the routine Health Visitor Distraction Test. Auditory neuropathy is an important but poorly understood disorder which has implications on planning future hearing screening policy and management of hearing impairment.     

Surgical complications and their management in a series of 300 consecutive pediatric cochlear implantations.

OBJECTIVE: To report the short- and long-term complications encountered in a large number of consecutive children undergoing implantation in a single center. The current study also describes the management and sequelae of each complication. STUDY DESIGN: Prospective study assessing the surgical findings and complications of deaf children undergoing implantation. SETTING: Pediatric tertiary referral center for cochlear implantation. PATIENTS: The present study includes 300 consecutive children undergoing implantation, with a mean age at implantation of 5.1 years, ranging from 1.3 to 16.9 years. Of these children, 196 (65%) had congenital deafness of unknown cause. The commonest known cause was meningitis (73 of 300 [24%]) followed by congenital cytomegalovirus infection (17 of 300 [6%]). Children have been followed up regularly after implantation, typically at yearly intervals after the first year. The mean duration of follow-up at the time of the study was 4 years (range, 0.1-14 yr). RESULTS: There were no major perioperative (within 1 d after surgery) or major early postoperative (within 1 wk after surgery) complications. In the same periods, there were 19 and 15 minor complications, respectively. These complications (e.g., eardrum perforation, hematoma, flap swelling, wound infection, temporary facial weakness) settled with conservative treatment or minor intervention. With regard to the late surgical complications (>1 wk after surgery), there were 7 major (e.g., severe flap infection requiring explantation, cholesteatoma, persistent eardrum perforation) and 14 minor complications (e.g., mild flap infection, flap swelling, hematoma). A number of complications were encountered even 14 years after the original operation, and some of them needed repeated interventions, highlighting the importance of long-term follow-up. However, most of the complications occurred very close to the surgical procedure (<1 yr). CONCLUSION: An overall rate of 2.3% for major surgical complications and an overall rate of 16% for minor surgical complications suggest that cochlear implantation is a relatively safe surgical operation in experienced centers. Most surgical complications are minor and can be managed with conservative treatment or minor surgical intervention. However, meticulous attention to surgical detail, especially handling soft tissues and leaving the posterior canal wall intact, and long-term follow-up are of paramount importance in minimizing the incidence of surgical complications.