Genetic testing can resolve diagnostic confusion in Alport syndrome.

Alport syndrome (AS) is a familial glomerular disorder resulting from mutations in the genes encoding several members of the type IV collagen protein family. Despite advances in molecular genetics, renal biopsy remains an important initial diagnostic tool. Histological diagnosis is challenging as features may be non-specific, particularly early in the disease course and in females with X-linked disease. We present three families for whom there was difficulty in correctly diagnosing AS or thin basement membrane nephropathy as a result of misinterpretation of non-specific and incomplete histology. We highlight the importance of electron microscopy and immunofluorescence in improving diagnostic yield and also the hazard of interpreting a descriptive histological term as a diagnostic label. Molecular genetic testing allows a definitive diagnosis to be made in index patients and at-risk family members.

Effect of buttonhole cannulation with a polycarbonate PEG on in-center hemodialysis fistula outcomes: a randomized controlled trial.

BACKGROUND: Quality improvement strategies to increase and maintain the numbers of arteriovenous fistulas (AVFs) are a critical drive in enhancing the quality of care of patients receiving treatment with hemodialysis. How the AVF is needled is an important consideration in AVF survival; the ideal cannulation technique has not been established to date. STUDY DESIGN: Prospective randomized single-center trial. SETTING & PARTICIPANTS: Patients on maintenance hemodialysis therapy (N = 140). INTERVENTION: A 1-year intervention of buttonhole (constant site) or usual-practice (different site) cannulation. OUTCOMES: Primary study outcome was AVF survival over 1 year, in which AVF failure was defined as an AVF no longer used for hemodialysis (also referred to as assisted patency). Secondary outcomes included primary patency, number of access interventions, bleeding time, infection rate, cannulation time and pain, and aneurysm formation. RESULTS: Demographic data were similar for both groups. The primary outcome measure of AVF survival at 1 year was statistically significantly increased in the buttonhole group (100% vs 86% with usual practice; P = 0.005, log-rank test). In the buttonhole group, there were fewer interventions (19% vs 39% in usual practice) and less existing aneurysm enlargement (23% vs 67% in usual practice). There were no bacteremia events in the buttonhole group and 2 in the usual-practice group (0.09/1,000 AVF days). There were no significant differences in bleeding times and lignocaine use between the 2 groups. LIMITATIONS: A single-center study, lack of blinding. CONCLUSIONS: In this study, AVF survival was significantly greater when using buttonhole cannulation. The buttonhole technique significantly decreased the need for access interventions and reduced existing aneurysm enlargement. Concerns of increased infection rates or prolonged bleeding times with the buttonhole technique were not seen in this study. The buttonhole technique should be considered the cannulation technique of choice for AVFs.

An efficient sonochemical oxidation of benzyl alcohols into benzaldehydes by FeCl3/HNO3 in acetone.

Sonochemical oxidation of benzyl alcohols into corresponding aldehydes by FeCl(3)/HNO(3) in acetone at room temperature has been reported. All substrates give good yield of the products within 10-25 min. The reaction of selected substrates were also studied under reflux and at the room temperature. Further, various Lewis acids were used to evaluate their catalytic efficacy.

Case report of ecstasy-induced renal venous thrombosis.

The use of 3,4-methylenedioxymethamphetamine, also known as MDMA or ecstasy, has been associated with vascular and end-organ damage. This case report describes, with histological evidence, the development renal venous thrombosis presenting with acute kidney injury following oral ingestion of 3,4-methylenedioxymethamphetamine (ecstasy).

HIV-related admissions to a district general hospital in the U.K.: a single centre study.

This study evaluates the patient and disease characteristics, potential cost implications and short-term outcomes of 64 adult patients admitted with HIV-related illnesses. The majority (65.6%) were black Africans and 75% were immigrants to the U.K. Of the 64 patients, 61% were unaware of their HIV status at admission; 50% had CD4 count <50 cells/microl and 48% had viral load >10(5) copies/ml. Thirty-eight patients had AIDS and this accounted for 66% of the total 897 inpatient days (equivalent to 16.5-30.2 patient years of highly active antiretroviral therapy (HAART), depending on the type of HAART regimen used). Fifteen (23.8%) died in hospital, and of these 11 had AIDS and a CD4 count <200 cells/microl. Immigrants from countries of high prevalence accounted for the majority of the inpatient HIV caseload. They presented late and had high in-hospital mortality. Screening programmes to allow early diagnosis and treatment should be adapted to reach migrant populations.

Cytodiagnosis of actinomycetoma.

Mycetoma is a late clinical manifestation of a subcutaneous infection produced by bacteria (actinomycetoma) or fungi (eumycetoma). The distinction between eumycetoma and actinomycetoma in Fine Needle Aspiration Cytology (FNAC) is as accurate as histopathology. A 55 year old man presented with a slow growing swelling on the plantar aspect of the right foot which was present for the last 10 years. A clinical diagnosis of soft tissue tumor was made and FNAC was advised. Smears revealed mixed inflammatory infiltrate and foreign body type of giant cells along with clumps of fibrillar organisms. Gram stain done later demonstrated gram positive thin branching filaments. A diagnosis of actinomycetoma was rendered. Histopathology of the excised specimen confirmed the cytologic diagnosis of actinomycetoma. Mycetoma can be accurately diagnosed by FNAC, which is a simple, inexpensive technique for rapid diagnosis.

Percutaneous fluoroscopically guided placement of peritoneal dialysis catheters--a 10-year experience.

Peritoneal dialysis (PD) catheters maybe inserted surgically or percutaneously. Since 1997, 209 patients in our unit have had a PD catheter inserted percutaneously with fluoroscopic guidance. Data on all these PD catheters were collected prospectively on a PROTON computer database. 5/209 (2.4%) insertion attempts were abandoned. 204 catheters were successfully placed giving an initial technical success of 97.6%. 200/204 catheters were used for dialysis. 13/200 (6.5%) catheters developed early exit site infections; 12/13 were successfully treated and dialysis proceeded uneventfully. 3/200 (1.5%) catheters developed early peritonitis; 1/3 was removed as antibiotic treatment was unsuccessful. 10/200 (5%) catheters developed an early leak; 2/10 did not resolve with conservative therapy and were removed. 14/200 (7%) catheters did not allow sufficient fluid entry for PD; all 14 had migrated out of the pelvis and were removed. In total, 18/200 (9%) catheters were removed in the first 2 months due to these early complications. The remaining 182/200 (91%) were fully functional for PD. Technical survival (excluding patient death with a functioning catheter and successful kidney transplantation) at 1, 2, and 5 years was 77%, 61%, and 31%, respectively. Our 10 year experience of PD catheters inserted percutaneously with fluoroscopic guidance demonstrates a high technical success and a low complication rate. The data presented may be used as the standard for this technique.

Fungal peritonitis complicating peritoneal dialysis: report of 18 cases and analysis of outcomes.

Fungal peritonitis is a significant cause of morbidity and mortality in patients undergoing peritoneal dialysis (PD). This retrospective study evaluated patients with fungal peritonitis in our dialysis unit from December 1999 through September 2003. We analyzed the demographic and clinical characteristics of patients to identify possible risk factors. Main clinical outcomes of interest were technique survival and mortality. During the study period, 18 patients were diagnosed with fungal peritonitis (15 on continuous ambulatory PD, 3 on automated PD). Fungal peritonitis accounted for 6% of all peritonitis episodes during the study period. Candida species were the infecting organism in 15 patients (83%). All 18 patients received antifungal treatment according to the International Society of Peritoneal Dialysis (ISPD) recommendations that were current during the study period. Two patients (11%) died with the PD catheter in situ, and 1 patient died after dialysis was withdrawn because of deterioration in other comorbid conditions. All the surviving patients were switched to hemodialysis. Of the 18 patients, 15 (83%) had history of antibiotic treatment for bacterial peritonitis within the 4 weeks preceding the fungal peritonitis episode. Our study provides further support for the current ISPD recommendation that the PD catheter should be removed as soon as a diagnosis of fungal peritonitis is made in a patient.