Macrothrombocytopenia, renal dysfunction and nephrotic syndrome in a young male patient: a case report of MYH9-related disease.

MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.

Therapy of nephrolithiasis: where is the evidence from clinical trials?

The prevalence of kidney stone disease is increasing worldwide with significant health and economic burden. Newer research is finding that stones are associated with several serious morbidities. Yet, few randomized clinical trials or high quality observational studies have assessed whether clinical interventions decrease the recurrence of kidney stones.

Effects of non-pharmacological interventions on urinary citrate levels: a systematic review and meta-analysis.

Background: Hypocitraturia is a known risk factor for nephrolithiasis, present in 20-60% of stone-forming patients. The administration of citrate or other alkali preparations has been demonstrated to benefit hypocitraturic stone formers. Dietary modifications that include citrate-containing fluids can be an alternative option to pharmacological agents.

Left ventricular mechanical dyssynchrony in patients with different stages of chronic kidney disease and the effects of hemodialysis.

Left ventricular (LV) dyssynchrony is a known cause of mortality in patients with heart failure and may possibly play a similar role in patients with chronic kidney disease (CKD) in whom sudden death is one of the most common and as yet not fully explained cause of death. LV synchronicity and its relationship with increased volume load and various biomarkers was analyzed in 145 patients including 53 patients with CKD stages 3 and 4 and in 92 CKD stage 5 patients undergoing hemodialysis (HD) or peritoneal dialysis (PD) using color tissue Doppler imaging and tissue synchronization imaging. The HD patients were evaluated both before and after a single HD session.

Interleukin-6 is a better predictor of mortality as compared to C-reactive protein, homocysteine, pentosidine and advanced oxidation protein products in hemodialysis patients.

Inflammatory markers predict mortality in hemodialysis (HD) patients, whereas a possible association between oxidative stress (OS) markers and survival is less clear. We assessed the impact on all-cause mortality of baseline inflammatory [high-sensitivity C-reactive protein and interleukin-6 (IL-6)] and OS markers (advanced oxidation protein products, pentosidine, homocysteine) in 112 HD patients. We found no significant correlations between inflammatory and OS markers.

The prognostic impact of fluctuating levels of C-reactive protein in Brazilian haemodialysis patients: a prospective study.

Background: A single elevated C-reactive protein (CRP) value predicts mortality in haemodialysis (HD) patients, but the relative importance of repeated vs occasional positive systemic inflammatory response findings is not known.

Methods: To assess the influence on survival of occasional inflammation, CRP, serum albumin (S-Alb) and fibrinogen were analysed bimonthly in 180 HD patients (54% male, 49+/-14 years). Clinically significant inflammation was defined as CRP >5.

The influence of hepatitis C and iron replacement therapy on plasma pentosidine levels in haemodialysis patients.

Background: Chronic liver disease and intravenous (i.v.) iron therapy can enhance oxidative stress.

The recommendations from the International Society for Peritoneal Dialysis for Peritonitis Treatment: a single-center historical comparison.

The antibiotic treatment currently recommended by the International Society for Peritoneal Dialysis (ISPD) for peritonitis consists of a combination of a first- and a third-generation cephalosporin. The schedule formerly recommended combined a first-generation cephalosporin and an aminoglycoside. No comparison between the treatment schedules has been performed until now.