Coagulase-positive Staphylococcus pseudintermedius from animals causing human endocarditis

We report a case of infection with coagulase-positive Staphylococcus pseudintermedius related to the implantation of a cardioverter-defribrillator device. This species is usually isolated from infected animals, and contact with a dog was the probable source of infection in this patient. This isolate produced a leukotoxin effective against human polymorphonuclear leukocytes.     

Proximale Femurfrakturen im Alter

BACKGROUND: The section of geriatric trauma ("AG-Alterstraumatologie") of the "Deutsche Gesellschaft für Unfallchirurgie" (DGU) and the "Lohmann & Birkner Health Care Consulting GmbH" in co-operation with the health insurance funds (VdAK and AEV) supplied the relevant data of approximately 23 million insured persons from the years 2002 to 2004. METHODS: All data from patients over the age of 60 staying in hospital because of proximal femur fractures and without further injuries as the main diagnosis were extracted from the available amount of data and then analysed. There were 68,929 (9.5%) cases diagnosed with proximal femur fractures of 724,606 patients treated in hospital. RESULTS: There was a significant age-dependent increase in incidents of proximal femur fractures with a maximum of 3,000 injuries around the age of 82 years. The surgical treatment of proximal femur fractures was carried out with a joint-preserving stabilising method (osteosynthesis-screws-"DHS"-nailing systems) in 49.5%, with endoprosthesis in 48.6 % as well as other methods in 1.9% of the cases. In comparison to hip replacement care, a shorter hospital stay could be proved with osteosynthetic methods.     

An unusual reciprocal translocation detected by subtelomeric FISH: interstitial and not terminal

An 11-month-old boy with a pattern of dysmorphic signs, an atrial septal defect, right inguinal hernia, bilateral undescended testes, bilateral urinary reflux, right renal dysplasia, and developmental delay had an abnormal chromosome 11 with additional material of unknown origin attached to the long arm in his karyotype. The paternal karyotype was normal 46,XY, while the mother's karyotype was 46,XX,t(2;11)(q35;q24.2). Thus, a reciprocal terminal exchange was assumed resulting in duplication of distal 2q material and a small subterminal 11q deletion. However, application of subtelomeric fluorescence in situ hybridization (FISH) probes indicated that the translocation was not a terminal reciprocal exchange, but was interstitial at least for one of the chromosomes, which would be highly unusual since most interstitial translocations are non-reciprocal. Based on the results of FISH and microsatellite marker examinations, the designation of the breakpoints and thus of the deleted and duplicated segments had to be revised. The findings have implications for karyotype-phenotype correlation.     

Tetrasomy 12pter-12p13.31 in a girl with partial Pallister–Killian syndrome phenotype

A dysmorphic patient was shown to carry a small supernumerary marker chromosome. Multicolor, centromere-multicolor and regular FISH experiments proved the marker to be an analphoid 12pter derived isochromosome. Microdissection of the marker followed by reverse painting and array CGH analysis showed that the isochromosome contains approximately 6 Mb of 12pter-12p13.31 derived sequence. This is only the second report of a marker with a neocentromere 12pter and the molecular fine mapping of the duplicated region further refines the 12p region defining the Pallister–Killian syndrome phenotype. In addition, we show the feasibility of using microdissected chromosomes or chromosomal fragments to molecularly map the chromosomal breakpoints on array CGH. This technology may aid in the identification of chromosomal translocation breakpoints.     

Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS

6-Pyruvoyl-tetrahydropterin synthase (PTS or PTPS) is involved in tetrahydrobiopterin (BH(4)) biosynthesis, the cofactor for various enzymes including the aromatic amino acid hydroxylases. Inherited PTPS deficiency is a heterogeneous disease with different phenotypes leading to BH(4) depletion. The severe form of PTPS deficiency causes hyperphenylalaninemia and monoamine neurotransmitter deficiency, whereas the mild form gives rise to hyperphenylalaninemia only. From 228 patients with PTPS deficiency at least 32 different mutant alleles have been identified on its corresponding gene, located on chromosome 11q22.3-q23.3. Here we describe a new allele from a child with PTPS deficiency who exhibited a mild but transient form of hyperphenylalaninemia, yet was deficient in CSF monoamines. The patient was found to carry, on her genomic DNA and cDNA, a homozygous A>G transition, leading to PTPS codon alteration Tyr99 to Cys (Y99C). The mother and several members of the maternal family were carriers of the Y99C allele, also verified by the reduced PTPS enzyme activity in erythrocytes. By cytogenetic, molecular, and FISH analyses, a de novo deletion spanning from 11q14 to 11q23.3 on the patient's paternal chromosome was mapped, establishing hemizygosity of the Y99C allele. The PTPS mutation observed in this patient generates a novel phenotype with an apparently isolated central form of BH(4) deficiency.