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41.
Oguzkan Sürücü Ulrich Sure Sabine Gaetzner Sonja Stahl Ludwig Benes Helmut Bertalanffy Ute Felbor 《Child's nervous system》2006,22(11):1461-1464
Introduction and background A 3-year-old Bosnian girl with a large symptomatic brainstem and multiple supratentorial cavernous angiomas, who underwent neurosurgical treatment, is presented. As multiple cavernomas are more common in familial cases, genetic analyses and neuroradiological imaging were performed in the patient and her parents to see whether there was any evidence for inheritance. This information is important for genetic counseling and provision of medical care for at-risk relatives. Currently, no recommendation is available on how to manage these cases.Results Genetic analyses demonstrated a novel CCM1 frameshift mutation (c.1683_1684insA; p.V562SfsX6) in the child and the asymptomatic 27-year-old mother. Sensitive gradient-echo magnetic resonance imaging of the mother revealed multiple supratentorial lesions, whereas analogous imaging of the father showed no pathological findings.Conclusion This case exemplifies that seemingly sporadic cases with multiple lesions might well be hereditary and that presymptomatic genetic testing of family members may identify relatives for whom clinical and neuroradiological monitoring is indicated. 相似文献
42.
Jan Groetzner Ingo Kaczmarek Bruno Meiser Markus Müller Sabine Daebritz Bruno Reichart 《The Journal of heart and lung transplantation》2004,23(6):770-773
Chronic renal failure triggered by calcineurin inhibitor (CNI)-based immunosuppression is a common complication after cardiac transplantation. Sirolimus and mycophenolate mofetil (MMF) are 2 newer immunosuppressive agents with no documented nephrotoxic side effects. This case report describes a patient with ongoing chronic renal failure 10 months after cardiac transplantation on cyclosporine-based immunosuppressive therapy. Conversion of the immunosuppressive regimen from cyclosporine to sirolimus and MMF resulted in freedom from acute rejection, excellent cardiac graft function and consistently improved renal function. This case illustrates the beneficial potential of sirolimus and MMF as CNI-free and safe long-term immunosuppression in a patient with chronic renal failure after heart transplantation. 相似文献
43.
Michael Burwinkel Constanze Riemer Anja Schwarz Julia Schultz Sabine Neidhold Theresa Bamme Michael Baier 《International journal of developmental neuroscience》2004,22(7):497-505
Prion infections of the central nervous system (CNS) are characterised by a reactive gliosis and the subsequent degeneration of neuronal tissue. The activation of glial cells, which precedes neuronal death, is likely to be initially caused by the deposition of misfolded, proteinase K-resistant, isoforms (termed PrP(res)) of the prion protein (PrP) in the brain. Cytokines and chemokines released by PrP(res)-activated glia cells may contribute directly or indirectly to the disease development by enhancement and generalisation of the gliosis and via cytotoxicity for neurons. However, the actual role of prion-induced glia activation and subsequent cytokine/chemokine secretion in disease development is still far from clear. In the present work, we review our present knowledge concerning the functional biology of cytokines and chemokines in prion infections of the CNS. 相似文献
44.
Martin Krause Wolfgang Fogel Volker Tronnier Sabine Pohle Konstanze H?rtnagel Ute Thyen Jens Volkmann 《Movement disorders》2006,21(12):2255-2257
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder with onset in childhood and rapid progression. There is no causative and insufficient symptomatic drug therapy. Deep brain stimulation (DBS) of the internal pallidum (GPi) has been reported to improve motor function. Most case reports, however, are limited to short observational periods. The impact of DBS on the progression and life expectancy in PKAN is unknown. We present a 5-year outcome and video documentation of bilateral GPi-DBS of an adolescent patient suffering from genetically defined PKAN. 相似文献
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47.
Attitudes to childhood in general and towards one's own childhood in particular are compared in a survey of 152 Australian and New Zealand child psychiatric and paediatric trainees. Results confirm the findings of Enzer et al that paediatricians view childhood more positively than do child psychiatrists. Although there is a significant difference between the two groups on measures of their perceptions of the parenting they received with child psychiatrists rating their own parents as less caring than do paediatricians, there is no relationship between attitudes to childhood and perceptions of the parenting they received. Implications of these findings are examined, both in terms of motivation for choosing one or other specialty and for the working relationship between the two professions. 相似文献
48.
Dietrich Schweitzer Sabine Guenther Mateusz Scibor Martin Hammer 《International ophthalmology》1992,16(4-5):251-257
The approximation of logarithmic difference spectra between the reflectance of the normal fundus and the fundus reflectance in different stages of glaucoma is demonstrated by a model. The influences of fundus pigments like oxihemoglobin, melanin, xanthophyll and rhodopsin as well as the intensity and the exponent of the scattered light are optimized. Glaucomatous alterations in the extinction of these pigments and of the scattering parameters are different in the macula, in the papillo-macular bundle and in the parapapillary region temporal to the optic disc. A lack of oxihemoglobin only in the papillo-macular bundle in first relative losses in the visual field function points to a damaged microcirculation in early POAG. In progressive glaucoma the extinction spectrum of xanthophyll is detectable in the papillo-macular bundle. A decreased intensity of the scattered light and an altered scattering exponent are suggestive of a damage in the nerve fiber layer at early stages of glaucoma. 相似文献
49.
Ralf-Peter Vonberg Sabine Stamm-Balderjahn Sonja Hansen Irina Zuschneid Henning Ruden Michael Behnke Petra Gastmeier 《Infection control and hospital epidemiology》2006,27(10):1123-1127
A systematic search was performed to identify outbreaks of methicillin-resistant Staphylococcus aureus infection and colonization caused by healthcare workers (HCWs). Of 191 outbreaks identified, 11 had strong epidemiological evidence that HCWs were the source. In 3 of these outbreaks, asymptomatic carriers were the cause. The frequent practice of screening asymptomatic HCWs should be reconsidered. 相似文献
50.
Thorsten Gerstner Deike Buesing Elke Longin Claudia Bendl Dieter Wenzel Brigitte Scheid Gisela Goetze Alfons Macke Gerhard Lippert Wolfgang Klostermann Geert Mayer Regine Augspach-Hofmann Sabine Fitzek Carl-Albrecht Haensch Markus Reuland Stephan A Koenig 《Seizure》2006,15(6):443-448
Valproic acid (VPA) is a broad-spectrum antiepileptic drug and is usually well-tolerated. Rare serious complications may occur in some patients, including haemorrhagic pancreatitis, bone marrow suppression, VPA-induced hepatotoxicity and VPA-induced encephalopathy. The typical signs of VPA-induced encephalopathy are impaired consciousness, sometimes marked EEG background slowing, increased seizure frequency, with or without hyperammonemia. There is still no proof of causative effect of VPA in patients with encephalopathy, but only of an association with an assumed causal relation. We report 19 patients with VPA-associated encephalopathy in Germany from the years 1994 to 2003, none of whom had been published previously. 相似文献