A monoallelic double mutation as a cause for TNF receptor-associated periodic fever syndrome.

Hereditary periodic fever syndromes (HPFSs) are a subset of human autoinflammatory diseases characterized by periodic episodes of fever and signs of inflammation with or without involvement of inner organs. In this paper, we report phenotypic features of an index patient and affected family members that present a previously not described mutation type in the TNFRSF1A gene. The phenotype of a HPFS of affected family members was shown to be associated with two monoallelic mutations in TNFRSF1A. Primarily, the index patient was clinically diagnosed as being affected by familial Mediterranean fever (FMF). However, with molecular genetic analyses, it could be shown that the patient was in fact affected by tumor necrosis factor receptor-associated periodic syndrome, which requires a different therapy when compared with FMF. Thus, molecular genetic analyses of currently known disease loci enable the most precise diagnosis presently available and are consequently the basis for the most effective therapeutic intervention.

Leiomyoma of bladder. Report of 2 cases and demonstration of ultrasonic appearance.

Two cases of bladder leiomyoma are reported. Both are women who presented with a palpable mass on pelvic examination, one asymptomatic and the second with significant bladder outlet obstruction. Results of ultrasound examinations are presented. Complete local resection was curative in both patients.

[S2 guideline for infectious endocarditis]. / S2 Leitlinie zur Diagnostik und Therapie der infektiösen Endokarditis. Finale Version 5.0 08/2004.

Microbe-induced (infectious) endocarditis is an endovascular infection, caused mainly by bacteria, of cardiovascular structures. The major predilection site are the native heart valves, but involvement of implanted intracardiac foreign material is increasingly being seen. The mortality rate of infectious endocarditis depends on clinical factors and the causal agent, but also on the time of the establishment of the diagnosis and the initiation of appropriate treatment. In Germany, the current mortality rate ranges up to 18%. Between January 2003 and July 2004, with the aim of improving patient care and thus the outcome of this condition, a guideline commission worked out recommendations for the diagnosis, treatment and management of the disease for the use of general practitioners and hospital physicians, in particular microbiologists, infectiologists, cardiologists and cardiac surgeons. The basis for this guideline was the systematic search through the literature of the European guideline. On the 16th and 28th of June 2004, the entire guideline was formerly approved in a nominal group process.

[Therapy and prophylaxis of infectious endocarditis]. / Therapie und Prophylaxe der infektiösen Endokarditis.

Infective endocarditis remains even today a potential lethal disease. The most frequent bacterial agents are viridans streptococci, staphylococci and enterococci. Left-sided endocarditis predominates except for patients with drug addiction. Modern recommendations of treatment are based on in vitro studies, experimental data from the animal model and clinical studies. Antimicrobial therapy should be parenteral and bactericidal in character. Detailed recommendations for treatment are given. Progressive heart failure, persistent bacteremia and repeated embolism are the most important reasons for surgical intervention. Modern prevention is performed as single or short-term prophylaxis for about sixteen hours. Simple practicability as well as handing out of guidelines to the patient will contribute to improved acceptance.

Bacterial-mycotic liver abscess in a non-immunocompromised host.

We are presenting the case of a 70-year-old, formerly healthy patient. Seven weeks after abdominal surgery, a liver abscess was diagnosed by sonography and aspiration. Cultures revealed a mixed bacterial-fungal etiology. Treatment with irrigation (povidone iodine) and parenteral mezlocillin failed. Final cure was only achieved when long-term treatment with piperacillin and miconazole was initiated and abscess drainage removed.

[About degradation products of the inter-alpha-trypsin inhibitor in serum. II. Acid label derivatives of the inter-alpha-trypsin inhibitor (author's transl)]. / Uber Abbauprodukte des Inter-alpha-Trypsininhibitors im Serum. II. Säurelabile Derivate des Inter-alpha-Trypsininhibitors

Simultaneous to the liberation of the acid stable trypsin-plasmin-inhibitor from the inter-alpha-trypsininhibitor in vivo, acid labile degradation products are set free. The main product can be estimated by immunological methods. This product is not excreted by the kidney in contrast to the acid stable inhibitor. The product accumulates in serum in different diseases. An increased concentration of this product indicates also an increased turn-over of the inter-alpha-trypsin inhibitor in the case when the concentraton of the intact inter-alpha-trypsin inhibitor or of the filtrable derivative are within normal range.

[Risk of infection in endoscopy]. / Infektionsrisiko in der Endoskopie.

Infection is one of the hazards of endoscopic procedures. This long known risk has received major concern because of potential HIV infection. In the individual patient, both, patient related factors (such as the compromised host) and procedure related factors (such as tissue damage) determine the risk of infection. The potential for transmission of microorganisms from patient to patient or from the endoscopic equipment to the patient is reviewed. Common sources of infection and relevant microorganisms are listed. For prevention of transfer of infective agents through the contaminated endoscope the importance of thorough mechanical cleaning of the endoscope and adequate disinfection is stressed.

[Preventing transmission of infection in endoscopy: hygienic maintainance of flexible endoscopes and measures for personal protection]. / Vermeidung einer Infektionsübertragung in der Endoskopie: hygienische Aufbereitung flexibler Endoskope und Massnahmen zum Personalschutz.

For prevention of transfer of infective agents by the contaminated endoscope the importance of thorough mechanical cleaning of the endoscope and adequate disinfection is stressed. Mode of action and side effects of liquid disinfectants as well as resistance of microorganisms (spores and some mycobacteria) to germicidal chemicals are mentioned. The different steps of disinfection procedures and potential causes of failure are discussed. Automatic disinfection systems are required for a higher degree of security of both patient and staff of the endoscopic unit. A regular control of the efficacy of the disinfection process is recommended and models for implementation are discussed. For prevention of occupationally acquired infection general precaution guidelines (use of gloves, prevention of needle-stick injuries) and vaccination programs are stressed.

[Postpartum streptococcal gangrene]. / Postpartale Streptokokkengangrän.

A case of acute hemolytic streptococcal gangrene is presented. Typical signs of this disease are local pain, erythema, edema, formation of blisters, and gangrene. Malaise and fever are more unspecific. The special clinical feature of this postpartum case is discussed and compared with the literature. The therapy comprised extended incision of the vulva, application of antimicrobial agents, and exchange transfusion.

[About degradation products of the inter-alpha-trypsin inhibitor in serum. I. The inter-alpha-trypsin inhibitor as precursor of the acid stable trypsin-plasmin-inhibitor of the serum (author's transl)]. / Uber Abbauprodukte des Inter-alpha-Trypsininhibitors im Serum. I. Der Inter-alpha-Trypsininhibitor als Prekursor des säurestabilen Serum-Trypsin-Plasmin-Inhibitors

The humoral inter-alpha-trypsin inhibitor is to define as precursor of the acid stable trypsin-plasmin-inhibitor in the serum. The inhibitor is filtrated by the glomerulum and excreted in the urine. The serum level of the inhibitor is increased in nephropathy. Using a new assay for the intact precursor it was found that during inflammation the decreased precursor level indicates an increased turnover, though the glomerular filtration of the acid-stable inhibitor is within normal range. The increase of the precursor level during nephropathy indicates that the kidney is the main degradation organe for the inter-alpha-trypsin inhibitor. Nevertheless, an increase of the acid-stable inhibitor is to be seen. This fact is only to explain if it is assumed that the inter-alpha-trypsin inhibitor is permanently degraded everywhere in the organism.

The biological activity of different forms of Polyoma Virus DNA and viral DNA fragments.

Mouse tissue culture cells were infected with different forms of Polyoma Virus (PV) DNA or virus DNA fragments by means of a microinjection technique and stained for PV-tumor (T) antigen and virus capsid (V) antigen 48 hr after injection.The efficiency of PV-DNA 1 (20S) to induce T- and V-antigen was within the same range as the efficiency of the full virus particle. DNA II (16S) showed a reduced capacity for both T- and V-antigen induction.Single stranded DNA molecules (16 or 18S) and double stranded DNA fragments (12S) led to T-antigen but not V-antigen synthesis. Simultaneous transfer of 16S and 18S DNA revealed T- and V-antigen formation.

[Recurrent pulmonary hemorrhage with normal kidney function]. / Rezidivierende Lungenblutung bei normaler Nierenfunktion.

A case of Goodpasture's syndrome with normal renal function is described. Clinical, morphological and prognostic features of the diagnosis are compared with the findings in Goodpasture's syndrome with progressive renal failure and with the findings in idiopathic pulmonary hemosiderosis.