Genetic services survey-experience of people with rare diseases and their families accessing genetic services in the Irish Republic.

Irish Health Service objectives state that patients with rare diseases should have timely access to genomic diagnostics with appropriate pre and post-test counselling. However, waiting times for clinical genetics outpatient appointments, during the study period, were up to two years as staffing levels remain low. A targeted public online survey was conducted in January 2022 to capture the experiences of Rare Disease families trying to access genetic testing and clinical genetic clinics in the Irish Republic.

Multi-center experience of 164 consecutive Hemodialysis Reliable Outflow [HeRO] graft implants for hemodialysis treatment.

Objective: To report a multi-center experience with the novel Hemodialysis Reliable Outflow (HeRO) vascular access graft.

Materials And Methods: Four centers conducted a retrospective review of end stage renal disease patients who received the HeRO device from implant to last available follow-up. Data is available on 164 patients with an accumulated 2092.

Hippocampal context processing is critical for interference free recall of odor memories in rats.

Interference is a critical problem for memory systems and a primary cause of retrieval failure. One strategy for minimizing interference is to associate the items to be remembered with the context in which they were learned. For example, human subjects who learn two lists of words in separate contexts experience less interference and better recall than subjects who learn both lists in the same context.

Familial hypocalciuric hypercalcemia in the donor and recipient of a living related donor kidney transplant.

Familial hypocalciuric hypercalcemia (FHH) is caused by heterozygous inactivation of the calcium-sensing receptor, which is notably expressed in parathyroid and kidney. FHH is characterized by asymptomatic hypercalcemia and hypophosphatemia and confers minimal, if any, morbidity. Renal transplantation in patients with FHH has not been described previously.

Postinfectious glomerulonephritis in renal allograft recipients.

Postinfectious glomerulonephritis (PIGN) is a rare etiology of de novo glomerulonephritis following kidney transplantation. To date, there have only been eight cases reported in the literature. We report an additional three patients transplanted at our institution between January 2000 and October 2004 who had clinical and pathologic findings consistent with posttransplant PIGN.

The uncertain significance of anti-glomerular basement membrane antibody among HIV-infected persons with kidney disease.

Glomerular lesions that complicate patients with human immunodeficiency virus (HIV) infection include HIV-associated nephropathy, membranous glomerulopathy, and immune-complex glomerulonephritides. This case series presents 3 patients with clinically significant renal disease and positive test results for anti-glomerular basement membrane (anti-GBM) antigen. Characteristic histological findings that would suggest anti-GBM antibodies have a significant role in the pathological state of each patient's kidney disease were absent.

Obesity predicts increased overall complications following pancreas transplantation.

Purpose: We sought to evaluate the role of recipient body mass index (BMI) on postoperative complications in patients receiving pancreas transplants.

Methods: A single-institution retrospective study of 145 consecutive patients undergoing either simultaneous kidney pancreas (SPK) or pancreas after kidney (PAK) transplantation from January 1997 through December 2003. Variables analyzed included: age, sex, BMI, number of prior transplants, cytomegalovirus status of donor and recipient, postoperative insulin resistance, complications, and overall patient and graft survival.

Intravenous immunoglobulin and plasmapheresis in acute humoral rejection: experience in renal allograft transplantation.

Acute humoral rejection (AHR) in kidney transplantation is associated with higher rates of allograft loss when compared with acute cellular rejection (ACR). Treatment with intravenous immunoglobulin (IVIG) combined with plasmapheresis (PP) has been used recently in many centers. We report the incidence, clinical characteristics, and outcome of patients with AHR treated with IVIG and PP.

Acute kidney transplant failure following transurethral bladder polyp fulguration.

Ureteral obstruction and anastomotic leak represent the most common urologic complications of kidney transplantation. Delay in diagnosis or treatment can lead to allograft loss. Obstruction of the ureter occurs in 2% of kidney transplant recipients.

The spectrum of infection-related morbidity in hospitalized haemodialysis patients.

Background: Infection is a common cause of mortality and morbidity in haemodialysis patients. Few prospective studies have examined the clinical consequences of infection-related hospitalizations in haemodialysis patients or the risk factors predictive of clinical outcomes.

Methods: The outcomes of all first infection-related hospitalizations of patients enrolled in the HEMO Study were categorized in terms of mortality, requirement for intensive care unit (ICU) stay and length of hospitalization.

Impact of dialysis dose and membrane on infection-related hospitalization and death: results of the HEMO Study.

Infection is the second most common cause of death among hemodialysis patients. A predefined secondary aim of the HEMO study was to determine if dialysis dose or flux reduced infection-related deaths or hospitalizations. The effects of dialysis dose, dialysis membrane, and other clinical parameters on infection-related deaths and first infection-related hospitalizations were analyzed using Cox regression analysis.

Post transplant erythrocytosis in hypercalcemic renal transplant recipients.

In vitro data suggest that calcium plays an important role in normal and disordered erythropoiesis. The purpose of this study is to determine whether there is an association between serum calcium, various hormone levels, and the development of post transplant erythrocytosis (PTE). Data were collected on 283 patients who underwent renal transplantation between 1994 and 1998.

Beneficial effect of plasmapheresis and intravenous immunoglobulin on renal allograft survival of patients with acute humoral rejection.

Background: Acute humoral rejection (AHR) has been associated with enhanced graft loss. Our study compared the renal allograft survival of patients with AHR treated with plasmapheresis (PP) and intravenous immunoglobulin (IVIG) with allograft survival in patients with acute cellular rejection (ACR).

Methods: We retrospectively analyzed all kidney transplants performed at our institution between January 1999 and August 2001 (n=286).

Coronary steal from a left internal mammary artery coronary bypass graft by a left upper extremity arteriovenous hemodialysis fistula.

In patients with end-stage renal disease undergoing hemodialysis, the upper extremity arteriovenous (AV) fistula is the dialysis access recommended by the DOQI guidelines for patients with appropriate vasculature. Upper extremity AV fistulae have long periods of usefulness, high flow rates, and low associated complication rates. Placement of AV access may result in increased cardiac output and increased cardiac oxygen demand in these patients.

Declining influence of race on the outcome of living-donor renal transplantation.

A racial disparity in graft survival for renal transplant recipients has been documented for both cadaveric and living-donor transplants. In the present single-center study we analyzed graft survival by race for recipients of living-donor kidney transplants in three eras: 1985-89, 1990-94, and 1995-2000. There was an intensification of the immunosuppressant regimen beginning in 1996, such that all patients received cyclosporine or tacrolimus with mycophenolate and prednisone.

Catheter access for hemodialysis: an overview.

The provision of hemodialysis requires repeated, reliable access to the central circulatory system. Long-term hemodialysis has best been provided by arteriovenous fistulae and arteriovenous grafts. In recent years, more and more patients have been chronically dialyzed with tunneled dialysis catheters.

Comparison of transposed brachiobasilic fistulas to upper arm grafts and brachiocephalic fistulas.

Background: Renewed interest in transposed brachiobasilic fistulas has occurred since the release of the National Kidney Foundation-Dialysis Outcomes Quality Initiative (NKF-DOQI) guidelines because it is an alternative method to achieve an upper arm fistula in patients who cannot achieve a functional brachiocephalic fistula. The objective of this study was to compare outcomes among transposed brachiobasilic fistulas, upper arm grafts, and brachiocephalic fistulas.

Methods: A cohort of patients with upper arm accesses was retrospectively identified.

Viral infections after renal transplantation.

Viral infections are a leading cause of posttransplantation morbidity and mortality. A number of recent developments have altered our understanding and management of these disorders. The pathogenetic roles of several viruses, including human herpesviruses 6 and 8, have been newly established.

Dialysis access infections.

Infections and specifically infectious complications of vascular access remain a major cause of morbidity and mortality in the hemodialysis population. Primary arteriovenous fistulas have the lowest rates of infections and are the access of choice whenever vascular anatomy allows. The dialysis outcomes quality initiative (DOQI) guidelines have thus stressed the need for increasing the utilization of arteriovenous fistulas.

A role for leukotrienes in cyclosporine nephrotoxicity.

Background: Nephrotoxicity associated with cyclosporine A (CsA) administration is characterized by marked renal vasoconstriction, interstitial fibrosis, and arteriolar hypertrophy. While the molecular mechanisms of CsA toxicity are not well characterized, previous studies have demonstrated that altered arachidonic acid (AA) metabolism plays a role its pathogenesis. Using a rat renal transplant model, the purpose of this study was to examine the effects of CsA on the 5-lipoxygenase (5-LO) pathway of AA metabolism.

Diagnosis and management of BK polyomavirus interstitial nephritis in renal transplant recipients.

Background: Interstitial nephritis caused by BK polyomavirus is a recognized complication of renal transplantation. A study of renal transplant recipients at Duke University Medical Center was undertaken to evaluate diagnostic modalities and assess clinical outcomes in transplant polyomavirus infections.

Methods: Polyomavirus nephritis was identified in 6 of 240 patients who received renal transplants between January 1996 and June 1998 and an additional patient who underwent transplantation in 1995.

Focal segmental glomerulosclerosis: a need for caution in live-related renal transplantation.

Focal segmental glomerulosclerosis (FSGS) has increasingly been recognized to occur in a familial pattern. We have observed the development of biopsy-confirmed FSGS and subsequent end-stage renal disease (ESRD) in one live related kidney donor and ESRD without biopsy in another. Both donors had family members with ESRD secondary to FSGS.