[PDF] Top 20 Perceived fatigue in myotonic dystrophy type 1: a case-control study

... of perceived fatigue were significantly higher in patients with DM1 than in matched healthy ...to fatigue on psychological functioning, including emotional lability, irritability and stress and ... See full document

... patients’ unawareness of their disease was related specifically to lower scores in visuospatial memory, cognitive flexibility, comprehension, and conceptualization. Emotional QoL that is higher than the national average ... See full document

... One case of an avul- sion of the tendon after transfer of the tibialis posterior muscle (patient 1) and two cases of wound dehiscence (patients 3, ...(patient 1) as well as the wound dehiscence of ... See full document

... Given the limited amount of RNA available, total RNAs from DM1 muscle biopsies were pooled into two groups: DMa (DM1-1, DM1-2, DM1-3, DM1-4) and DMb (DM1- 5, DM1-6, DM1-7). RNAs from 4 healthy subjects were pooled ... See full document

... Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disease affecting muscles, the eyes and the endocrine ...a case of DM1 with a rare combination of multiple ... See full document

... complete study design for the clinical and genetic as- sessment has been ...and fatigue was evaluated with the fatigue severity subscale of the Checklist Individual ... See full document

... A linear regression model with forced entry method was constructed to explore variables related to pulmon- ary function. Assumptions for Multiple linear regression was met: Linear relationship between outcome and inde- ... See full document

... distances. Fatigue and dys- pnoea were frequently reported symptoms: 48 patients were either dyspnoeic or fatigued after exertion and 10 subjects complained of ... See full document

... recent case- report presented a 50-year-old DM1 patient who suddenly died due to malignant arrhythmia ...This case was considered by the au- thors to indicate an association between TGF-β and the fi- brotic ... See full document

... and fatigue—preclude individuals from engaging in education or employment and restrict their recreational and leisure activities, which resonates with findings from the PRISM study (Heatwole et al, ...that ... See full document

... severe fatigue (Checklist Individual Strength–Fatigue [CIS- Fatigue] score ≥35) were recruited between April 2014 and May 2015 through 4 clinical centers: Nijmegen, the Nether- lands; Paris, France; ... See full document

... This study has some limitations that should be ad- dressed in future ...our study does not include unaffected family members of the house- holds of the patient or case ...our study, IQ scores ... See full document

... This study further specifies that dimensions of apathy dif- fer between DM1 patients and controls, in agreement with previous observations in ...the perceived need for knowledge [18]; finally, high scores ... See full document

... our study was to analyze the genotype-phenotype relationship in a group of Iranian DM1 patients via clinical phenotype as molecular assessment of the (CTG) ... See full document

... A second PKC inhibitor modestly inhibits PKC activation and CUGBP1 upregulation. Western blot analysis of CUGBP1, phos- pho-PKCα/βII, and connexin 43 in each mouse group is shown (MCM, lanes 1 and 2; TAM, lanes ... See full document

... tonic dystrophy type 1 (DM1), Huntington disease (HD), Huntington disease-like 2 (HDL2), dentatorubral-pallido- luysian atrophy (DRPLA), spinal and bulbar muscular atrophy (SBMA), and several forms ... See full document

... If dystrophin is defective or absent, the membrane breaks down which then substances and molecules like proteins and enzymes leak out of the fiber into circulation. These enzymes and chemicals that leak out are ... See full document

... Seventeen DM1 patients with complaints of EDS (8 males, 9 females) and aged 14–70 years, with mean of 39 ± 18 years, were included in this study (Table 1). The CSF orexin levels decreased in 7 out of 17 ... See full document

... Immunochemistry was performed using: CD68+ mac- rophages (Dako, Glostrup, Denmark), neutrophil elastase (Dako, Glostrup, Denmark) and anti-skeletal myosin fast (IIA, IIB and IIX isoforms) primary antibodies (Sigma- ... See full document

... spontaneous deep venous thrombosis (DVT) with consec- utive pulmonary embolism (PE). Acetyl-salicylic acid was given for secondary prophylaxis because of cognitive impair- ment. Cerebral CT (CCT) showed ... See full document