Arthrogryposis multiplex congenita

From 1975 to 2004 a total of 38 children handicapped by congenital multiple arthrogryposis were cared for. The congenital joint contractures demand a major effort in terms of surgical reconstruction. In the case of distal arthrogryposis the chances that patients will be able to walk without help are good, while those with amyoplasia are likely to be dependent on mobility aids throughout their lives. The ultimate goal of treatment for patients is to develop into self-confident adults who can cope with life despite their handicaps. The hip in arthrogryposis shows variable forms of pathology, ranging from the almost normal hip to hip contractures with dislocation. Its treatment has some limited advantages, but hardly improves mobility. The knee contractures are actively treated to allow patients to sit, stand and walk better. The club foot and the rocker-bottom foot need sophisticated conservative and operative treatments. If conservative manipulation of bilateral extension contractures of the elbow fails operative treatment is carried out on the dominant side. For shoulder, hand and finger contractures conservative manipulation brings about little improvement, and surgical approaches help hardly at all.     

Management von Postintubationsstenosen bei Kindern

Extubation difficulties after long-term endotracheal intubation in neonates and infants require immediate re-intubation with a somewhat thinner endotracheal tube, continuation of long-term intubation for another 7–14 days with antibiotic and antiphlogistic therapy including antireflux treatment as well as a subtile endoscopic examination. A tracheostomy is not indicated before several attempts of extubation have failed. An anterior cricoid split should be indicated with great care and in premature neonates only. In manifest cicatrical stenoses, subtile endoscopic diagnostics are an essential prerequisite for the choice of surgical method and time of surgery. In rather mild stenoses (grade II), laryngotracheal reconstruction (LTR) with anterior wall cartilage grafting is presently regarded as method of choice. For subglottic stenoses of higher degrees (grade III and IV), partial cricotracheal resection (PCTR) is felt to be the most successful procedure. For all scarred stenoses involving the glottic level, LTR with posterior and anterior wall cartilage grafting appears to be the only suitable treatment. LTR with anterior wall grafting only as well as the PCTR can be performed as a single stage procedure with postoperative long-term intubation on an intensive care unit for one or more days. LTR with posterior and anterior wall grafting requires long-term stenting for several weeks or months depending upon the individual condition. For long-term stenting, our so-called double-tube-technique using a modified Montgomery T silicon tube together with a perforated tracheal cannula has proved to be the safest and least irksome technique.     

Unklare peranale Blutabgänge bei einem 21-jährigen Mann

Ohne Zusammenfassung     

Regulation des programmierten Zelltod in aggressiven Fibroblasten

Apoptosis is a central physiological mechanism for maintaining cellular stability in tissue. Synovial fibroblasts, which play a central role in the pathogenesis of rheumatoid arthritis (RA), show a resistance to apoptosis. Several molecular mechanisms are involved in such resistance. Thus, soluble Fas can bind Fas ligands (Fas-L) and hinder Fas-L induced apoptosis in fibroblasts. SUMO-1 (a small ubiquitin-like modifier) attaches to proteins post-translationally. This appears to be significantly involved in apoptosis resistance in RA fibroblasts. SUMO-1 levels are substantially increased in synovial fibroblasts from RA patients. A change in the post-translational SUMOlation pattern could represent a new target for changing the stable activation of synovial fibroblasts in RA.     

Meningitis

The most frequent pathogens causing bacterial meningitis in Germany are Neisseria meningitidis, Streptococcus pneumoniae, Borrelia burgdorferi, Listeria monocytogenes and staphylococci. Since immunization against Haemophilus influenzae has become a routine vaccination procedure, this pathogen no longer plays a significant role in the etiology of bacterial meningitis. A number of pilot studies have indicated that selected PCR methods most probably represent the future etiological diagnosis of bacterial meningitis. The easiest and most rapid diagnostic method is, however, still a simple gram stain preparation. In fatal cases that ran a peracute course, especially in the Waterhouse-Friderichsen syndrome, only increased congestion of the surface of the brain is detectable at autopsy. In such cases, there is hardly any histological evidence of an inflammatory reaction of the leptomeninges. In cases of purulent meningitis, in addition to the typical infiltration of the subarachnoid space with abundant granulocytes, after some days of illness there is a wide-spread histomorphological picture of pathological alterations with fibrinoid vessel wall necroses, thromboses, ventriculitis, infarctions as well as venous and arterial vasculitis. The breakdown of the integrity of the blood-brain-barrier in bacterial meningitis is obviously due to a separation of intercellular tight junctions of the endothelium of the capillaries of the leptomeninges. The cause of death in meningitis, depending on the severity and duration of a concomitant sepsis, is an increase in intracranial pressure that leads to a circulus vitiosus (via a reduced central perfusion associated with metabolic acidosis) with cerebral vasodilatation. This is followed by an additional rise of intracranial pressure and finally a reduced cerebral blood supply and central dysregulation. The medico-legal expert is occasionally confronted with this topic against the background of a possible misjudgement of the disease due to insufficient diagnostics or delayed diagnosis and in the light of a posttraumatic or nosocomial origin of the illness.