Adipose tissue function and insulin sensitivity in syndromic obesity of Bardet-Biedl syndrome.

Background: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive syndromic obesity of childhood onset among many other features. To date, the excess risk of metabolic complications of severe early-onset obesity in BBS remains controversial. In-depth investigation of adipose tissue structure and function with detailed metabolic phenotype has not been investigated yet.

Case Report and Review of A Novel Cause of Peritoneal Dialysis Peritonitis in the United Kingdom.

Peritoneal dialysis (PD) peritonitis poses a significant healthcare problem. Most cases are caused by Gram-positive organisms. Newer molecular diagnostic techniques have now enabled identification of previously unrecognized organisms, fully characterizing disease.

Evaluating Patient Safety And Ease Of Use Of A Novel Connection-Assist Device For Peritoneal Dialysis.

Introduction: It is estimated that there are currently over 3 million patients receiving dialysis treatment worldwide. With effective pre-dialysis counselling, a majority of patients choose the home-based therapy peritoneal dialysis (PD) but only approximately 11% of prevalent dialysis patients use this modality. Connection-assist devices can overcome the challenges posed by decreased manual dexterity and/or visual acuity, and can allow more patients to be treated with home-based therapies.

How can we make renal medicine careers more appealing to UK trainees?

Background: There is a global decline in interest in careers in renal medicine. This is concerning given the increasing global burden of kidney disease. Previous studies in the USA and Australia have identified factors such as a poor work-life balance, lack of role models and the challenging nature of the speciality as possible reasons behind recruitment struggles.

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism. Nineteen disease-causing genes () have been identified, of which mutations in are most common in North America and Europe. A hallmark of the disease, renal malformation is heterogeneous and is a cause of morbidity and mortality through the development of CKD.

Evaluation of visual function and needs in adult patients with bardet-biedl syndrome.

Purpose: To assess the visual needs of the adult population with Bardet-Biedl syndrome (BBS) and to ensure that this is addressed by a national Bardet-Biedl Service.

Methods: A cross-sectional analysis of all adults under a national BBS Clinic (Birmingham, United Kingdom) was performed using the BBS Ophthalmic Assessment Tool, a novel tool designed to capture the key elements of visual function, impact on lifestyle, and clinical findings relevant to BBS.

Results: Sixty-two adult patients were confirmed to have BBS.

Complete renal recovery from severe acute renal failure after thrombolysis of bilateral renal vein thrombosis.

A previously healthy young man presented with acute renal failure due to extensive spontaneous deep vein thrombosis, including the inferior vena cava (IVC) and both renal veins. The patient was treated with selectively delivered thrombolytic therapy over a 7-day-period, which resulted in renal vein patency and complete recovery of renal function. A stent was placed over a segment stenosis of the IVC.

Developing a higher specialist training programme in renal medicine in the era of competence-based training.

Renal specialty medical training in the UK was reformed in August 2007, with an emphasis placed on competency-based training and the publication of a new curriculum and assessment blueprint. This model of training places additional time demands on both trainees and trainers, with implications for job planning and service delivery. We evaluated the resource requirements and impact on service delivery of implementing a high-quality training programme in renal medicine.

Treatment of acute renal failure secondary to multiple myeloma with chemotherapy and extended high cut-off hemodialysis.

Background And Objectives: Extended hemodialysis using a high cut-off dialyzer (HCO-HD) removes large quantities of free light chains in patients with multiple myeloma. However, the clinical utility of this method is uncertain. This study assessed the combination of chemotherapy and HCO-HD on serum free light chain concentrations and renal recovery in patients with myeloma kidney (cast nephropathy) and dialysis-dependent acute renal failure.

Efficacy and safety of sevelamer hydrochloride and calcium acetate in patients on peritoneal dialysis.

Background: Inadequate phosphorus control is associated with increased morbidity and mortality in patients with CKD stage 5. Although phosphate binders are often used in patients on peritoneal dialysis (PD), no large randomized controlled studies evaluating their use solely in this population have previously been reported.

Methods: In this multicentre, open-label study, adult patients on PD with serum phosphorus >5.

Timely initiation of dialysis--single-exchange experience in 39 patients starting peritoneal dialysis.

Objective: To establish the effectiveness and patient acceptability of initiating peritoneal dialysis (PD) according to published guidelines.

Setting: A university teaching hospital and a neighboring district general hospital.

Design: Nonrandomized prospective pilot study.

Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene.

Mutations in the PKD1 and PKD2 genes account for 85 and 15% of cases of autosomal dominant polycystic kidney disease, respectively. Polycystin-2, the product of the PKD2 gene, is predicted to be an integral membrane protein with homology to a family of voltage-activated Ca(2+) channels. In vitro studies suggest that it may interact with polycystin-1, the PKD1 gene product, via coiled-coil domains present in their C-terminal domains.