Myoclonus–dystonia syndrome with severe depression is caused by an exon-skipping mutation in the ɛ-sarcoglycan gene

2007 ◽  
Vol 22 (8) ◽  
pp. 1173-1175 ◽  
Author(s):  
Anjum Misbahuddin ◽  
Mark Placzek ◽  
Graham Lennox ◽  
Jan-Willem Taanman ◽  
Thomas T. Warner
2004 ◽  
Author(s):  
Robert J. Derubeis ◽  
Jay D. Amsterdam ◽  
John P. O'Reardon ◽  
Paula R. Young

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
M Baumgartner
Keyword(s):  

2011 ◽  
Vol 30 (10) ◽  
pp. 805-812
Author(s):  
A. von Moers

ZusammenfassungDie Muskeldystrophie Duchenne ist eine X-gebundene rezessive Erkrankung, die bei 1:3 500 Knaben auftritt. Sie wird durch Mutationen im DMD-Gen verursacht. Die Mutationen resultieren in einem Verlust von Dystrophin, dies führt zur progredienten Muskeldegeneration. Der Krankheitsverlauf ist durch eine progrediente, proximal betonte Muskelschwäche gekennzeichnet, die ohne Behandlung zu einem Gehverlust um das 10. Lebensjahr und zum frühzeitigen Tod um das 20. Lebensjahr durch Ateminsuffizienz oder Herzversagen führt. Durch symptomatische Therapien kann der Krankheitsverlauf positiv beeinflusst werden, besonders durch die Etablierung der nicht invasiven Beatmung konnte die Lebenserwartung erheblich verlängert werden. In den letzten Jahren wurden verschiedene Ansätze einer kausalen Therapie untersucht. Am weitesten gediehen ist das “exon skipping”, dessen Wirksamkeit in internationalen, multizentrischen Phase-III Studien untersucht wird.


2019 ◽  
Vol 2 (2) ◽  
pp. 211-220
Author(s):  
Ahmed Waqas ◽  
Aqsa Iftikhar ◽  
Zahra Malik ◽  
Kapil Kiran Aedma ◽  
Hafsa Meraj ◽  
...  

AbstractObjectivesThis study has been designed to elucidate the prevalence of stress, depression and poor sleep among medical students in a Pakistani medical school. There is a paucity of data on social support among medical students in Pakistan; an important predictor of depressive symptoms. Therefore, this study was also aimed to demonstrate the direct and indirect impact of social support in alleviating depressive symptoms in the study sample.MethodsThis observational cross-sectional study was conducted in Lahore, Pakistan, where a total of 400 students at a medical school were approached between 1st January to 31st March 2018 to participate in the study. The study sample comprised of medical and dental students enrolled at a privately financed Pakistani medical and dental school. The participants responded to a self-administered survey comprising of five parts: a) demographics, b) Pittsburgh Sleep Quality Index (PSQI), c) Patient Health Questionnaire-9 (PHQ-9), d) Multidimensional Scale of Perceived Social Support (MSPSS) and e) Perceived Stress Scale-4 (PSS-4). All data were analysed using SPSS v. 20. Linear regression analysis was used to reveal the predictors of depression.ResultsIn total, 353 medical students participated, yielding a response rate of 88.25%. Overall, poor sleep quality was experienced by 205 (58.1%) students. Mild to severe depression was reported by 83% of the respondents: mild depression by 104 (29.5%), moderate depression by 104 (29.5%), moderately severe depression by 54 (15.3%) and severe depression by 31 (8.8%) respondents. Subjective sleep quality, sleep latency, daytime dysfunction and stress levels were significantly associated with depression symptoms. Social support was not significantly associated with depressive symptoms in the regression model (Beta = -0.08, P < 0.09); however, it acted as a significant mediator, reducing the strength of the relationship between depressive symptoms and sleep quality and stress.ConclusionsAccording to our study, a large proportion of healthcare (medical and dental) students were found to be suffering from mild to moderate depression and experienced poor sleep quality. It is concluded that social support is an important variable in predicting depressive symptomatology by ameliorating the effects of poor sleep quality and high stress levels.


Psihiatru ro ◽  
2020 ◽  
Vol 3 (62) ◽  
pp. 30
Author(s):  
Cătălina Maria Petraşcu ◽  
Horia George Coman ◽  
Milena Dumitru Voichiţa ◽  
Marinela Minodora Manea
Keyword(s):  

2020 ◽  
Author(s):  
Anthony Martello

Review of creative therapies to help manage chronic pain. The use of alternative therapies to provide relief to patients suffering from chronic pain, severe depression, and anxiety. Useful tools for psychotherapists and counselors who help clients that have chronic pain and dysfunctions.


2020 ◽  
Author(s):  
David John Hallford ◽  
Tom Joseph Barry ◽  
Eline Belmans ◽  
Filip Raes ◽  
Sam Dax ◽  
...  

This investigation examined conflicting suggestions regarding the association between problems retrieving specific autobiographical memories and the tendency to retrieve the details of these memories. We also examined whether these tendencies are differentially related to depression symptoms. U.S., Belgian, Hong Kong and Japanese participants retrieved memories related to cue words. Responses were coded for if they referred to a specific event (i.e., an event lasting less than 24 hours) and their details (What? Where? Who?). Across sites, and in meta-analyses, the retrieval of more specific memories was associated with retrieval of more details. Memories that were specific included more detail than non-specific memories. Across sites, retrieval of more specific memories and more detail was associated with less severe depression symptoms. Episodic specificity and detailedness are related but separable constructs. Future investigations of autobiographical memory specificity, and methods for alleviating problematic specificity, should consider measures of episodic detailedness.


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