Einsatzmöglichkeiten der Chromosomenfeinanalyse (CFA) in Gynäkologie,Geburtshilfe und Pädiatrie

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X-chromosomale Adrenoleukodystrophie

Ohne Zusammenfassung Prof.Dr. J.G?rtner Zentrum Kinderheilkunde, P?diatrie II, Kinderheilkunde mit Schwerpunkt Neurop?diatrie, Universit?tsklinikum, Georg-August Universit?t G?ttingen, Robert-Koch-Strasse 40, 37075 G?ttingen, E-Mail: gaertnj@med.uni-goettingen.de     

Primäre ziliare Dyskinesie

Primary ciliary dyskinesia (PCD) is an autosomal recessive disease characterized by abnormal ciliary motion and impaired mucociliary clearance. The prevalence of PCD is approximately 1:20,000 live births. Since cilia are common in many organs of the body, there is a wide variety of clinical manifestations in patients with PCD. Due to an extensive genetic heterogeneity the course of the disease varies largely, but with increasing age, the clinical symptoms are dominated by repeated respiratory infections and ultimately respiratory insufficiency. In the presence of situs inversus, which is observed in 50% of affected individuals, the diagnosis is easy, In cases of doubt, analyses of the kinetics and infrastructure of the cilia are necessary. The treatment of PCD is symptomatic. With optimal medical and physiotherapeutic management, the prognosis quoad vitam is good and life expectancy is nearly normal.     

Cholesterol-sensing receptors, liver X receptor alpha and beta, have novel and distinct roles in osteoclast differentiation and activation.

The liver X receptor (alpha,beta) is responsible for regulating cholesterol homeostasis in cells. However, our studies using the LXRalpha-/-, LXRbeta-/-, and LXRalpha-/-beta-/- mice show that both LXRalpha and beta are also important for bone turnover, mainly by regulating osteoclast differentiation/activity. Introduction: The liver X receptors (alpha,beta) are primarily responsible for regulating cholesterol homeostasis within cells and the whole body. However, as recent studies show that the role for this receptor is expanding, we studied whether the LXRs could be implicated in bone homeostasis and development. MATERIALS AND METHODS: pQCT was performed on both male and female LXRalpha-/-, LXRbeta-/-, LXRalpha-/-beta-/-, and WT mice at 4 months and 1 year of age. Four-month-old female mice were additionally analyzed with reference to qPCR, immunohistochemistry, histomorphometry, transmission electron microscopy, and serum bone turnover markers. RESULTS: At the mRNA level, LXRbeta was more highly expressed than LXRalpha in both whole long bones and differentiating osteoblast-like MC3T3-E1 and osteoclast-like RAW 264.7 cells. Four-month-old female LXRalpha-/- mice had a significant increase in BMD because of an increase in all cortical parameters. No difference was seen regarding trabecular BMD. Quantitative histomorphometry showed that these mice had significantly more endosteal osteoclasts in the cortical bone; however, these cells appeared less active than normal cells as suggested by a significant reduction in serum levels of cross-linked carboxyterminal telopeptides of type I collagen (CTX) and a reduction in bone TRACP activity. Conversely, the female LXRbeta-/- mice exhibited no change in BMD, presumably because a significant decline in the number of the trabecular osteoclasts was compensated for by an increase in the expression of the osteoclast markers cathepsin K and TRACP. These mice also had a significant decrease in serum CTX, suggesting decreased bone resorption; however, in addition presented with an increase in the expression of osteoblast associated genes, bone formation markers, and serum leptin levels. CONCLUSIONS: Our findings show that both LXRs influence cellular function within the bone, with LXRalpha having an impact on osteoclast activity, primarily in cortical bone, whereas LXRbeta modulates trabecular bone turnover.     

The traumatic dural sinus injury — a clinical study

Summary In a period of 13 years 978 cases of severe head injuries were operated on in our clinic. An analysis of the medical reports includes injuries of the superficial dural sinus (39 cases=4%): among these injuries of the anterior and central part of the superior sagittal sinus (66 per cent), injuries of the transverse sinus (18 per cent), injuries of the posterior part of the superior sagittal sinus (8 per cent), and combined injuries of different dural sinuses (8 per cent).Clinical data, i.e. the causes of accident, radiological examination results, intracranial lesions, operation technqiues and outcome are analysed and discussed. The analysis of cases with dural sinus injuries shows a high mortality rate (total mortality rate: 16 patients=41%; intra-operative mortality rate: 8 patients=20%).     

Fingerfrakturen

Fractures of the phalanges and the metacarpus are among the most common injuries of the upper extremity, accounting for approximately 10% of all fractures. They are not uncommonly dismissed as trivial trauma, so that the primary treatment is often inadequate. One fourth of all stiff fingers are attributable to a fracture, and in 50% of the cases, the fractures are the result of work-related accidents. This article aims to give an overview of the different types of fracture and their current treatment options (nonsurgical/surgical); special attention is also given to the specific features of phalangeal fracture treatment.     

Aktuelles medizinrechtliches Schrifttum, Richtlinien und Empfehlungen

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