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Susanne T. de Bot Sascha Vermeer Wendy Buijsman Angelien Heister Marsha Voorendt Aad Verrips Hans Scheffer Hubertus P. H. Kremer Bart P. C. van de Warrenburg Erik-Jan Kamsteeg 《Journal of neurology》2013,260(7):1765-1769
SPG8 is a rare autosomal dominant hereditary spastic paraplegia (AD-HSP), with only six SPG8 families described so far. Our purpose was to screen for KIAA0196 (SPG8) mutations in AD-HSP patients and to investigate their phenotype. Extensive family investigation was performed after positive KIAA0196 mutation analysis, which was part of an on-going mutation screening effort in AD-HSP patients. A novel pathogenic KIAA0196 mutation p.(Gly696Ala) was identified in two AD-HSP patients, who subsequently were shown to belong to a single large Dutch pedigree with more than 10 affected family members. The phenotype consisted of a pure HSP with ages at onset between 20 and 60 years, distally reduced vibration sense in the legs in all, and urinary urgency in seven out of 10 patients. Frequent features were exercise- or emotion-induced increase of spasticity and gait problems and chronic nonspecific lower back and joint pains. We have identified a fourth pathogenic KIAA0196 mutation in a Dutch HSP-family, the seventh family worldwide, with a less severe clinical course than described before. 相似文献
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Rob Labruyère Corinna N. Gerber Karin Birrer-Brütsch Andreas Meyer-Heim Hubertus J.A. van Hedel 《Research in developmental disabilities》2013,34(11):3906-3915
We investigated whether children with neurological gait disorders who walked in a driven gait orthosis could adjust their participation level according to the demands of a newly developed rehabilitation game. We further investigated if cognitive capacity and motor impairment influenced game performance. Nineteen children with neurological gait disorders (mean age: 13.4y, 42% girls) participated. To quantify game participation, electromyographic muscle activity (M. rectus femoris) and heart rate were compared in a demanding part and a less demanding part of the game. Cognitive capacity was assessed with the Test of Nonverbal Intelligence (TONI-4). Furthermore, the Functional Independence Measure for Children (WeeFIM), Manual Muscle Tests and a therapist-derived score of how well the child was able to train were assessed. Results showed that muscle activity and heart rate were higher during the demanding part of the game (30.7 ± 22.6 μV; 129.4 ± 15.7 bpm) compared to the less demanding part (16.0 ± 13.4 μV; 124.1 ± 15.9 bpm; p < 0.01 for both measures). Game performance correlated moderately with the TONI-4 (r = 0.50, p = 0.04) and the cognition subscale of the WeeFIM (ρ = 0.59, p = 0.01). The therapist-derived score correlated significantly with game performance (p = 0.75, p < 0.01) and the ability to modify muscle activity to the demands of the game (p = ?0.72, p < 0.01). Receiver operating characteristic analyses revealed that the latter factor differentiated well between those children suitable for the game and those not. We conclude that children with neurological gait disorders are able to modify their activity to the demands of the VR-scenario. However, cognitive function and motor impairment determine to which extent. These results are important for clinical decision-making. 相似文献
24.
Monatsschrift Kinderheilkunde - Der fulminante Verlauf einer nekrotisierenden Enterokolitis (NEC) kann zu einem Kurzdarmsyndrom („short bowel syndrome“, SBS) führen. Im Rahmen der... 相似文献
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Martje E. van Egmond MD Corien C. Verschuuren‐Bemelmans MD Esther A. Nibbeling MSc Jan Willem J. Elting MD PhD Deborah A. Sival MD PhD Oebele F. Brouwer MD PhD Jeroen J. de Vries MD Hubertus P. Kremer MD PhD Richard J. Sinke PhD Marina A. Tijssen MD PhD Tom J. de Koning MD PhD 《Movement disorders》2014,29(1):139-143
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Functionally distinct dendritic cell (DC) populations induced by physiologic stimuli: prostaglandin E(2) regulates the migratory capacity of specific DC subsets 总被引:28,自引:12,他引:28
Luft T Jefford M Luetjens P Toy T Hochrein H Masterman KA Maliszewski C Shortman K Cebon J Maraskovsky E 《Blood》2002,100(4):1362-1372
Migration of antigen (Ag)-loaded dendritic cells (DCs) from sites of infection into draining lymphoid tissues is fundamental to the priming of T-cell immune responses. We evaluated monocyte-derived DCs (MoDCs) and peripheral blood DCs (PBDCs) to respond to proinflammatory mediators, CD40L, and intact bacteria. All classes of stimuli induced DC phenotypic maturation. However, for MoDCs, only prostaglandin E(2) (PGE(2))-containing stimuli induced migratory-type DCs. Thus, immature MoDCs that encountered proinflammatory cytokines or CD40L or intact bacteria in the presence of PGE(2) acquired migratory capacity but secreted low levels of cytokines. Conversely, MoDCs that encountered pathogens or CD40L alone become nonmigratory cytokine-secreting cells (proinflammatory type). Interestingly, both migratory- and proinflammatory-type DCs expressed equivalent levels of chemokine receptors, suggesting that the role of PGE(2) was to switch on migratory function. We demonstrate that PGE(2) induces migration via the E-prostanoid 2/E-prostanoid 4 (EP(2)/EP(4)) receptors and the cAMP pathway. Finally, migratory-type MoDCs stimulated T-cell proliferation and predominantly IL-2 secretion, whereas proinflammatory-type MoDCs induced IFN-gamma production. In contrast, CD1b/c(+) PBDC rapidly acquired migratory capacity irrespective of the class of stimulus encountered and secreted low levels of cytokines. This suggests that not all mature stages of DCs are destined to migrate to lymphoid organs and that the sequence in which stimuli are encountered significantly affects which functions are expressed. Thus, certain immature DC subsets recruited from the resting precursor pool may have multiple functional fates that play distinct roles during the induction and effector phases of the immune response. These findings have important implications for the clinical utility of DCs in immunotherapy. 相似文献
28.
Susanne Rein Mireia Esplugas Marc Garcia-Elias Thomas M. Magin Thomas M. Randau Frank Siemers Hubertus M. Philipps 《Journal of anatomy》2020,236(5):906-915
The human interosseous membrane (IOM) is a fundamental stabilizer during forearm rotation. To investigate the dynamic aspects of forearm stability, we analyzed sensory nerve endings in the IOM. The distal oblique bundle (DOB), the distal accessory band (DAB), the central band (CB), the proximal accessory band (PAB), the dorsal oblique accessory cord (DOAC) and the proximal oblique cord (POC) were dissected from 11 human cadaver forearms. Sensory nerve endings were analyzed at two levels per specimen as total cell amount/mm2 after immunofluorescence staining with low-affinity neurotrophin receptor p75, protein gene product 9.5, S-100 protein and 4′,6-diamidino-2-phenylindole on an Apotome microscope, according to Freeman and Wyke’s classification. Sensory nerve endings were significantly more commonly found to be equally distributed throughout the structures, rather than being epifascicular, interstitial, or close to the insertion into bone (P ≤ 0.001, respectively). Free nerve endings were the predominant mechanoreceptor in all six structures, with highest density in the DOB, followed by the POC (P ≤ 0.0001, respectively). The DOB had the highest density of Pacini corpuscles. The DOAC and CB had the lowest amounts of sensory innervation. The high density of sensory corpuscles in the DOB, PAB and POC indicate that proprioceptive control of the compressive and directional muscular forces acting on the distal and proximal radioulnar joints is monitored by the DOB, PAB and POC, respectively, due to their closed proximity to both joints, whereas the central parts of the IOM act as structures of passive restraint. 相似文献
29.
BACKGROUND: Neuroblastoma is a common malignancy in children, but rarely occurs in adults. CASE REPORT: We report the case of a 39-year-old woman who was treated for her fourth recurrence of a pelvic neuroblastoma. CONCLUSIONS: Because of the rarity of these tumors during adolescence and adulthood, little information is available on the clinical course of patients with neuroblastoma in this age group. Currently there is no standard treatment for adult patients with neuroblastoma. Surgical resection and chemotherapy seem to be best of choice. 相似文献
30.
Hubertus Brieger Kurt Wachholder 《Pflügers Archiv : European journal of physiology》1940,243(2):206-222
Zusammenfassung Bei natürlicher Vitamin C-armer Ernährung lassen sich bei Kaninchen und Ratten die gleichen Veränderungen des Stoffwechsels nachweisen wie bei Meerschweinchen, bestehend in einer Weckung oder Verstärkung der Fähigkeit zur Selbstsynthese des Vitamins und zugleich in einem Unfähigwerden, den Grundumsatz konstant zu halten.Diese Unfähigkeit ist, wie das Zurückbleiben des Wachstums zeigt, für jüngere noch wachsende Tiere als ein sicheres Mangelsymptom zu bewerten.Bereits ausgewachsene Tiere sind bei C-armer Ernährung weit besser im Stande, sowohl den Grundumsatz konstant zu halten als auch den Organbestand an Vitamin C zu wahren. Es wird dies auf die bessere Ausbildung eines zweiten Kompensationsmechanismus zurückgeführt, welcher die erste Gegenregulation mittels Eigensynthese verstärkt und weitgehend ablöst. Durch diesen zweiten Mechanismus sind bei ausgewachsenen und zumal bei alten Meerschweinchen die Schwankungen des Gaswechsels weniger gro\ als bei jüngeren Tieren. Bei der Ratte kann hierdurch der Grundumsatz nach einiger Zeit sogar völlig wieder zur normalen Konstanz zurückgebracht werden, wobei jedoch ein erhöhtes Niveau bleibt. Selbst für ausgewachsene Ratten ist somit eine an Vitamin C arme Ernährung zumindest nicht optimal ökonomisch. Für ausgewachsene Meerschweinchen bleibt sie direkt schädlich.Im Alter war weder bei Meerschweinchen noch Ratten ein Nachlassen der Regulationsmöglichkeit nachweisbar.Alle Befunde sprechen dafür, da\ die Unfähigkeit den Grundumsatz konstant halten zu können, als objektives Kennzeichen des Bestehens einer sonst noch latenten C-Hypovitaminose angesehen werden darf. 相似文献