BackgroundPrimary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a consequence of deficient enzyme activity, excessive amounts of oxalate and L-glycerate are excreted in the urine, and are a source for the formation of calcium oxalate stones that result in recurrent nephrolithiasis and less frequently nephrocalcinosis.Case presentationWe report a case of a 10-month-old patient diagnosed with urolithiasis. Screening of inborn errors of metabolism, including the performance of GC/MS urine organic acid profiling and HPLC amino acid profiling, showed abnormalities, which suggested deficiency of GRHPR enzyme. Additional metabolic disturbances observed in the patient led us to seek other genetic determinants and the elucidation of these findings. Besides the elevated excretion of 3-OH-butyrate, adipic acid, which are typical marks of ketosis, other metabolites such as 3-aminoisobutyric acid, 3-hydroxyisobutyric acid, 3-hydroxypropionic acid and 2-ethyl-3-hydroxypropionic acids were observed in increased amounts in the urine. Direct sequencing of the GRHPR gene revealed novel mutation, described for the first time in this article c.454dup (p.Thr152Asnfs*39) in homozygous form. The frequent nucleotide variants were found in AGXT2 gene.ConclusionsThe study presents metabolomic and molecular-genetic findings in a patient with PH2. Mutation analysis broadens the allelic spectrum of the GRHPR gene to include a novel c.454dup mutation that causes the truncation of the GRHPR protein and loss of its two functional domains. We also evaluated whether nucleotide variants in the AGXT2 gene could influence the biochemical profile in PH2 and the overproduction of metabolites, especially in ketosis. We suppose that some metabolomic changes might be explained by the inhibition of the MMSADH enzyme by metabolites that increase as a consequence of GRHPR and AGXT2 enzyme deficiency. Several facts support an assumption that catabolic conditions in our patient could worsen the degree of hyperoxaluria and glyceric aciduria as a consequence of the elevated production of free amino acids and their intermediary products.

Fifty-three cases of staphylococcal endocarditis from a national endocarditis survey were analyzed for risk factors and outcome. Thirty of 53 patients had predisposing heart disease (39.6% rheumatic fever) but only 3 were on dialysis, only 2 had central venous catheter, only 2 intravenous drug abuse but 7 had prior cardiosurgery. Mortality was 39.6%. In analyzing risk factors for death, attributable mortality was significantly associated with skin infections (P < 0.05), embolization (P < 0.02), inappropriate therapy (P < 0.005) either because of too short therapy (P < 0.003) or wrong antibiotic combination (P < 0.01). Surgical therapy was associated with better outcome (4.8% deaths vs. 31.2% survivors, P < 0.04).

The aim of this study was to assess trends in risk factors, etiology, outcome and treatment strategies for endocarditis over 23 years in Slovakia. A prospective survey of 606 cases of infective endocarditis (IE) was conducted from 1984-2006. Rheumatic fever as well as previous dental surgery showed decreasing trends within the last 23 years. Also embolic complications of IE declined along with increasing rates of surgically treated patients. No significant changes in etiology were detected apart from the fact that culture-negative endocarditis increased from 10.7% to 55.4% between 1998-2001. Surgically treated patients increased from 22.7% (1984-1990) to 50.1% (2002-2006) and mortality dramatically decreased from 26.7% (1984-1990) to 5.3% (2002-2006). Staphylococcus aureus and coagulase-negative staphylococci were the leading causes (22.4% - 48%) followed by viridans streptococci (12.2%-18.2%) were a relatively stable trend over 23 years of IE in Slovakia.

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SummaryWithin the last 30 years the profile of infective endocarditis has altered considerably with regard to microbiological causation, clinical features, and natural history. A contributory factor has undoubtedly been the development of potent antibiotics and their sometimes indiscriminate use. The increase in intravenous drug abuse in urban centres, the use of immunosuppressive agents, and the use of prosthetic heart valves have also all contributed. Although cardiac surgery in the uninfected heart provides a perfect environment for infective endocarditis, the improved design of prosthetic valves and the enhanced long-term survival and decreased immediate operative risk, means that surgery is viewed as the best option in many cases. In a series of 53 cases of staphylococcal endocarditis from a national endocarditis survey, those risk factors which influenced outcome were analysed. Thirty out of 53 patients had predisposing heart disease. Mortality was 39.6%. Statistical analysis revealed that attributable mortality was significantly associated with skin infection, systemic embolisation, and inappropriate therapy. Interestingly, surgical treatment was associated with better outcome.