208 research outputs found
Chronic Progressive External Ophthalmoplegia Is Associated with a Novel Mutation in the Mitochondrial tRNA(Asn) Gene
Chronic progressive external ophthalmoplegia (CPEO) is caused by a decreased oxidative phosphorylation (OXPHOS) activity due to large-scale deletions of the mitochondrial genome in 50 % of the patients. The deletions encompass structural OXPHOS genes as well as tRNA genes, required for their expression so that the pathogenesis could be due to the deleted OXPHOS subunits or to an impaired mitochondrial translation. We have analyzed the mitochondrial genome of a patient presenting with CPEO for single base substitutions and discovered a novel heteroplasmic mutation in the tRNAAsn gene at position 5692 that converts a highly conserved adenine into a guanine. This mutation is unique because it is located at the transition of the anticodon loop to the anticodon stem and it leads to an additional base pair, thus reducing the number of loop-forming nucleotides from seven to five. Our findings suggest that CPEO can be caused by a single base substition in a mitochondrial tRNA gene so that the mitochondrial protein synthesis becomes the rate limiting step in OXPHOS fidelity
Olfactory Loss in Parkinson's Disease
Impairment of olfaction is a characteristic and early feature of Parkinson's disease. Recent data indicate that >95% of patients with Parkinson's disease present with significant olfactory loss. Deficits in the sense of smell may precede clinical motor symptoms by years and can be used to assess the risk for developing Parkinson's disease in otherwise asymptomatic individuals. This paper summarizes the available information about olfactory function in Parkinson's disease, indicating the advantageous use of olfactory probes in early and differential diagnosis
Progression of myopathology in Kearns-Sayre syndrome
We report on the progression of myopathology by comparing two biopsies from a patient with a Kearns-Sayre-Syndrome. The first biopsy was taken in 1979 and showed 10% ragged-red fibers. Myopathic changes were slight including internal nuclei and fiber splitting in 10% of the fibers. Electron microscopy revealed typical mitochondrial abnormalities with regard to number and shape. In 1989 a second biopsy was performed for an extended analysis of mitochondrial DNA. This time less than 5% of all fibers were ragged-red. Severe myopathic changes could be detected which so far has rarely been reported in mitochondrial cytopathy
Sleep Duration and âonâ Time during Different Periods of the Day and Night in Patients with Advanced Parkinson's Disease Receiving Adjunctive Ropinirole Prolonged Release
Patients undergoing long-term therapy for PD often experience motor fluctuations and nocturnal disturbances. In a post-hoc analysis, we explored effects of ropinirole prolonged release on sleep, night-time awakenings, and âonâ time over 24 hours. Patients with advanced PD suboptimally controlled with L-dopa were randomized to adjunctive ropinirole prolonged release (2â24âmg/day) or placebo for 24 weeks. Awake/asleep and, if awake, âonâ/âoffâ status was recorded via diary cards. At week 24 last observation carried forward, changes in nighttime or daytime sleep duration were not significantly different between treatments. Of patients with baseline awakenings, a significantly higher proportion in the ropinirole prolonged release group had a reduction in awakenings versus placebo. Patients receiving ropinirole prolonged release had a significantly greater increase in amount/percentage of awake time âonâ/âonâ without troublesome dyskinesia during all periods assessed (including night-time and early morning), versus placebo, and higher odds for being âonâ on waking. Adjunctive once-daily ropinirole prolonged release may help provide 24-hour symptom control in patients with advanced PD not optimally controlled with L-dopa
Olfactory dysfunction after autoimmune encephalitis depending on the antibody type and limbic MRI pathologies
Objective: Patientsâ olfactory function after autoimmune encephalitis (AE) involving limbic structures may be impaired. This study aimed to characterize olfactory function in patients after autoimmune encephalitides.
Methods: A caseâcontrol study was performed including 11 AE patients with antibodies against NMDAR (nâ=â4), GAD (nâ=â3), VGKC (nâ=â3) and antibody-negative AE (nâ=â1) and a control group of 12 patients with pneumococcal meningo-encephalitis (PC). In subgroup analyses, AE patients with and without NMDAR-antibodies were compared. Olfactory function was assessed using the Sniffin Sticks test and the resulting TDI-score (threshold, discrimination, identification). Involvement of limbic structures was evaluated on imaging data (MRI). Statistical analyses were performed to test for correlations of TDI-score and MRI results.
Results: The overall olfactory function of the AE-group and the PC-group was comparable (mean TDI 32.0 [CI 27.3â36.7], 32.3 [CI 28.5â36.0)]. The proportions of hyposmic patients were similar compared to the general population. However, AE patients of the non-NMDAR group had significantly lower TDI-scores (28.9â±â6,8) than NMDAR patients (37.4â±â3.5) (pâ=â0.046) and a significantly lower discrimination capability than the NMDAR patients (9.9â±â2.0 vs. 14.5â±â0.6) (pâ=â0.002). The non-NMDAR patients had significantly more limbic MRI pathologies (6/7) compared to the NMDAR patients (0/4) (pâ=â0.015). Furthermore, a correlation between limbic MRI pathologies and worse capability of smelling discrimination was found (pâ=â0.016, râ=ââ0.704, nâ=â11).
Conclusion: Our results indicate that patients with NMDAR autoimmune encephalitis have normal long term olfactory function. However, patients with non-NMDAR autoimmune encephalitis appear to have a persistently impaired olfactory function, probably mediated by encephalitic damage to limbic structures
Multimodale Computertomografie: moderne Bildgebung zur Erkennung von SchlaganfÀllen
Die moderne multimodale Computertomografie (CT) beinhaltet das Schichtröntgen des Gehirns (native CT), die Darstellung der hirnversorgenden Arterien (CT-Angiografie) und die Messung der Hirndurchblutung (CT-Perfusion). Mit Hilfe dieser Untersuchungstechnik kann bei Patienten mit akutem Schlaganfall rasch die Ursache der plötzlich eingesetzten Symptome beleuchtet werden: Liegt eine GefĂ€Ăobstruktion oder eine Blutung in das Gehirn vor? Wie ausgedehnt ist die Durchblutungsstörung und wie viel Hirngewebe ist bereits beschĂ€digt bzw. vom Untergang bedroht? Anhand dieser Informationen kann sofort eine spezifische Therapie eingeleitet werden, die es ermöglicht, die Patienten vor dauerhafter schwerer Behinderung zu bewahren bzw. die Prognose schon frĂŒh abzuschĂ€tzen.Computed tomography (CT), including CT perfusion imaging and CT angiography, has the capacity to assess stroke pathology on a functional and morphological level and can thus provide important information about patients with acute stroke. It excludes brain haemorrhage, assesses the extent of perfusion deficit, the extent of ischemic damage, and the site and type of arterial obstruction. Ischemic brain tissue below the blood flow level of structural integrity takes up water immediately and causes a decrease in x-ray attenuation. Computed tomography thus has the specific advantage of being able to identify the brain tissue which is irreversibly injured. If CT can exclude major ischemic damage in acute stroke patients, reperfusion strategies may rescue brain function and prevent disability
Multimodale Computertomografie: moderne Bildgebung zur Erkennung von SchlaganfÀllen
Die moderne multimodale Computertomografie (CT) beinhaltet das Schichtröntgen des Gehirns (native CT), die Darstellung der hirnversorgenden Arterien (CT-Angiografie) und die Messung der Hirndurchblutung (CT-Perfusion). Mit Hilfe dieser Untersuchungstechnik kann bei Patienten mit akutem Schlaganfall rasch die Ursache der plötzlich eingesetzten Symptome beleuchtet werden: Liegt eine GefĂ€Ăobstruktion oder eine Blutung in das Gehirn vor? Wie ausgedehnt ist die Durchblutungsstörung und wie viel Hirngewebe ist bereits beschĂ€digt bzw. vom Untergang bedroht? Anhand dieser Informationen kann sofort eine spezifische Therapie eingeleitet werden, die es ermöglicht, die Patienten vor dauerhafter schwerer Behinderung zu bewahren bzw. die Prognose schon frĂŒh abzuschĂ€tzen.Computed tomography (CT), including CT perfusion imaging and CT angiography, has the capacity to assess stroke pathology on a functional and morphological level and can thus provide important information about patients with acute stroke. It excludes brain haemorrhage, assesses the extent of perfusion deficit, the extent of ischemic damage, and the site and type of arterial obstruction. Ischemic brain tissue below the blood flow level of structural integrity takes up water immediately and causes a decrease in x-ray attenuation. Computed tomography thus has the specific advantage of being able to identify the brain tissue which is irreversibly injured. If CT can exclude major ischemic damage in acute stroke patients, reperfusion strategies may rescue brain function and prevent disability
Regards sur la protection des logements privés et la vidéo-surveillance publique
70% des rĂ©sidents pensent que la vidĂ©o-surveillance des lieux publics au Luxembourg augmente leur sĂ©curitĂ© personnelle, 23% pensent quâelle nâa pas dâimpact et 3% sont mĂȘme dâavis que la vidĂ©osurveillance diminue leur propre sĂ©curitĂ©. Les personnes qui craignent dâĂȘtre agressĂ©es physiquement ou qui sont inquiĂštes dâĂȘtre victimes d'une attaque terroriste, celles qui trouvent probable dâĂȘtre victime dâun cambriolage ou dâun vol avec violence, celles qui ne se sentent pas en sĂ©curitĂ© dans leur quartier de rĂ©sidence et celles qui sont dâavis que la criminalitĂ© au Luxembourg a progressĂ© au cours des derniĂšres annĂ©es, sâattendent plutĂŽt Ă une augmentation de leur sĂ©curitĂ© par les systĂšmes de surveillance sur certains lieux publics. Par contre les rĂ©sidents qui effectivement ont Ă©tĂ© victimes dâun dĂ©lit ou ceux qui sont confrontĂ©s Ă des problĂšmes de drogues dans leur quartier rĂ©sidentiel, ont des doutes quant Ă lâefficacitĂ© de la vidĂ©o-surveillance. Les jeunes sont les plus sceptiques. Par ailleurs, 27% des logements sont Ă©quipĂ©s dâun systĂšme d'alarme et 57% ont des portes de sĂ©curitĂ©. On retrouve plus souvent ces deux mesures de sĂ©curitĂ© dans les maisons unifamiliales que dans les maisons en rangĂ©e ou dans les appartements. En outre, la prĂ©sence de systĂšmes d'alarme et de portes de sĂ©curitĂ© est fortement liĂ©e au revenu du mĂ©nage. Quant Ă la possession d'armes Ă feu en tant que mesure de sĂ©curitĂ© elle joue un rĂŽle mineur : seulement 6% des rĂ©pondants ont dĂ©clarĂ© possĂ©der des armes Ă feu et parmi eux un-tiers Ă©voquent la prĂ©vention et la protection contre les crimes pour justifier la prĂ©sence dâarmes Ă feu chez eux.Laut der EnquĂȘte sur la sĂ©curitĂ© nehmen 69,5% der Befragten an, dass die VideoĂŒberwachung öffentlicher PlĂ€tze die eigene Sicherheit erhöht. 22,9% gehen davon aus, dass die VideoĂŒberwachung keine Auswirkungen hat und 2,9% nehmen eine Verringerung ihrer Sicherheit an. Weitere 4,5% gaben âweiĂ nichtâ an. Befragte, die tĂ€tliche Angriffe und Terrorattacken fĂŒrchten, einen Einbruch oder Raub fĂŒr wahrscheinlich halten, sich in ihrer Wohngegend nicht sicher fĂŒhlen oder von einem allgemeinen Anstieg der KriminalitĂ€t ausgehen, versprechen sich eher eine Verbesserung ihrer Sicherheit durch öffentliche VideoĂŒberwachung. Personen hingegen, die tatsĂ€chlich mit KriminalitĂ€t konfrontiert waren oder sind (als Opfer oder durch Drogenprobleme in der Wohngegend), beurteilen die Möglichkeiten der VideoĂŒberwachung skeptischer. Ebenso sind JĂŒngere eher skeptisch, ob sich ihre Sicherheit durch VideoĂŒberwachung verbessert. 26,5% der Wohnungen sind mit Alarmanlagen ausgestattet und 57,0% haben SicherheitstĂŒren. Diese beiden privaten Sicherheitsvorkehrungen sind hĂ€ufiger in EinfamilienhĂ€usern verbreitet als in ReihenhĂ€usern oder Apartments. Zudem sind Alarmanlagen und SicherheitstĂŒren umso hĂ€ufiger installiert, je höher das Familieneinkommen ist. Der Besitz von Schusswaffen als Sicherheitsvorkehrung spielt quantitativ dagegen eine untergeordnete Rolle: Nur 5,6% der Befragten gaben an, Schusswaffen zu besitzen. Von dieser Gruppe gaben 27,6% âSchutz vor KriminalitĂ€tâ als Grund fĂŒr den Besitz a
- âŠ