Myotonic discharges are a frequent symptom in myofibrillar myopathies

2012 ◽  
Vol 43 (01) ◽  
Author(s):  
T Kraya ◽  
F Hanisch ◽  
M Kornhuber ◽  
S Zierz
Keyword(s):  
2018 ◽  
Vol 15 (3) ◽  
pp. 219-228 ◽  
Author(s):  
Jiri Cerman ◽  
Ross Andel ◽  
Jan Laczo ◽  
Martin Vyhnalek ◽  
Zuzana Nedelska ◽  
...  

Background: Great effort has been put into developing simple and feasible tools capable to detect Alzheimer's disease (AD) in its early clinical stage. Spatial navigation impairment occurs very early in AD and is detectable even in the stage of mild cognitive impairment (MCI). Objective: The aim was to describe the frequency of self-reported spatial navigation complaints in patients with subjective cognitive decline (SCD), amnestic and non-amnestic MCI (aMCI, naMCI) and AD dementia and to assess whether a simple questionnaire based on these complaints may be used to detect early AD. Method: In total 184 subjects: patients with aMCI (n=61), naMCI (n=27), SCD (n=63), dementia due to AD (n=20) and normal controls (n=13) were recruited. The subjects underwent neuropsychological examination and were administered a questionnaire addressing spatial navigation complaints. Responses to the 15 items questionnaire were scaled into four categories (no, minor, moderate and major complaints). Results: 55% of patients with aMCI, 64% with naMCI, 68% with SCD and 72% with AD complained about their spatial navigation. 38-61% of these complaints were moderate or major. Only 33% normal controls expressed complaints and none was ranked as moderate or major. The SCD, aMCI and AD dementia patients were more likely to express complaints than normal controls (p's<0.050) after adjusting for age, education, sex, depressive symptoms (OR for SCD=4.00, aMCI=3.90, AD dementia=7.02) or anxiety (OR for SCD=3.59, aMCI=3.64, AD dementia=6.41). Conclusion: Spatial navigation complaints are a frequent symptom not only in AD, but also in SCD and aMCI and can potentially be detected by a simple and inexpensive questionnaire.


2008 ◽  
Vol 38 (1) ◽  
pp. 59-62 ◽  
Author(s):  
Neşe Demirtürk ◽  
Tuna Demirdal ◽  
Nurettin Erben ◽  
Serap Demir ◽  
Zerrin Asci ◽  
...  

This retrospective study was performed in two university hospitals between January 2002 and 2006. Ninety-nine brucellosis patients were included in the study. These patients were classified as acute (91), chronic (4) and relapse (4) according to their clinical presentations and serological tests. Brucella bacteria were isolated in the blood of 17 (17.2%) cases. The most frequent symptom and clinical sign was fever. The osteoarticular complications were found in 17 patients (17.2%). Four of them were complicated with epidural abscess the same time. Two (2.2%) had meningitis, two (2.2%) had epididymoorchitis, three (3.3%) had skin rashes and one (1.1%) had hepatitis. Three of the acute brucellosis patients were pregnant. Rifampin and doxycycline combination therapy had been administered to most of the patients with acute and relapse brucellosis. However, complicated and chronic brucellosis cases were given different treatment combinations. This study reviews brucellosis therapy choices.


Author(s):  
Abdulhamid Ciçek ◽  
Jeroen Cortier ◽  
Sarah Hendrickx ◽  
Johan Van Cauwenbergh ◽  
Lien Calus ◽  
...  

Abstract Introduction Chiari type I malformations can present in different ways, but the most frequent symptom is an occipitocervical headache. Hearing loss as the main presenting symptom is rare. Case A young woman with progressive left-sided unilateral hearing loss was diagnosed with a Chiari type I malformation. She underwent a suboccipital craniectomy with C1 laminectomy and duraplasty. The hearing loss had resolved postoperatively with normalization of the audiometry. Conclusion Chiari type I malformation can present solely with hearing loss. Improvement after surgical decompression is possible. This phenomenon is not emphasized well enough within the neurologic community. In this report, we present a summary of the pathophysiology and management in Chiari type I malformations.


2015 ◽  
Vol 25 (4) ◽  
pp. 353-354
Author(s):  
Galina Balakirski ◽  
Claudio Cacchi ◽  
Ruth Knuechel-Clarke ◽  
Mosaad Megahed

2009 ◽  
Vol 9 ◽  
pp. 934-939 ◽  
Author(s):  
Walter Bonfig ◽  
Kathi Dokoupil ◽  
Heinrich Schmidt

Hyperphagia is a frequent symptom in patients with Prader-Willi Syndrome (PWS) and results in marked obesity with the risk of metabolic and cardiovascular complications. Previously, we reported that our special diet for PWS patients is effective in the long run, if started early at about 2 years of age. Our objective in this study was to investigate if our special diet is also effective in PWS adolescents who are already overweight. We provided a strict, fat-reduced, and carbohydrate-modified diet, consisting of 10 kcal/cm height, to five adolescents (two female, three male) with PWS. Patients were prospectively followed at our center for 2-6 years. BMI, BMI-SDS, and Weight-for-Height Index were recorded over that period. The special diet was started at a mean age of 16 years (range: 14.1-18.9 years) and initial BMI was 41.3 kg/m2(range: 32.4-55.5 kg/m2), corresponding to BMI-SDS +3.6 (range: +2.8 to +4.5 SDS). Weight-for-Height Index was 243% (range: 190-339%). After 2 years of the diet, BMI decreased to 33 kg/m2(range: 26.7-38 kg/m2), as well as BMI-SDS +2.7 (range: 1.7-3.4 SDS) and Weight-for-Height Index to 191% (range: 157-232%); p < 0.01. The special diet was still effective in reducing weight after 4–6 years, with a mean BMI of 30.5 kg/m2(range: 24.6–34.5 kg/m2) and a mean BMI-SDS of +2.1 (range: 0.7–2.9). We conclude that in a period of 2–6 years, our strict, fat-reduced, and carbohydrate-modified diet, with 10 kcal/cm height, is effective even in adolescents with PWS who are already overweight.


ESMO Open ◽  
2020 ◽  
Vol 5 (6) ◽  
pp. e001021
Author(s):  
Alberto Ruano-Raviña ◽  
Mariano Provencio ◽  
Virginia Calvo de Juan ◽  
Enric Carcereny ◽  
Teresa Moran ◽  
...  

BackgroundLung cancer is currently the leading cause of cancer death. Despite its high incidence and mortality, there are few studies describing its symptoms at diagnosis broken down by tumour stage and tobacco use. Accordingly, this study was proposed to describe the frequency of the most common symptoms of non-small cell lung cancer and small cell lung cancer (SCLC) at diagnosis, with a breakdown by stage and tobacco use.Patients and methodsCases were collected from the Spanish Thoracic Tumour Registry, a nationwide registry sponsored by the Spanish Lung Cancer Group. More than 50 hospitals recruited histologically confirmed lung cancer cases and information was gathered through personal interview plus data contained in the electronic clinical record. There were no data available on the lag between the appearance of the first symptoms and diagnosis of lung cancer.ResultsA total of 9876 patients (74% male, median age 64 years) were recruited from 2016 to 2019. Of these, 12.5% presented with SCLC. Stage IV was the most frequent stage at diagnosis (46.6%), and the most frequent symptom was cough (33.9%), followed by dyspnoea (26.7%). No symptom was present in 59% of patients diagnosed in stage I; 40% of stage I patients presented with at least one symptom, while 27.7% of patients in stage IV had no symptoms at diagnosis. Cough was the most frequent symptom in SCLC (40.6%), followed by dyspnoea (34.3%). The number of symptoms was similar across the respective smoking categories in SCLC, and differences between the symptoms analysed did not exceed 7% in any case.ConclusionThe absence of the most frequent symptoms (ie, cough, pain, dyspnoea) should not lead to a decision to rule out the presence of lung cancer. A relevant percentage of stage IV patients displayed no symptoms at diagnosis.


The Lancet ◽  
1887 ◽  
Vol 129 (3307) ◽  
pp. 121-122
Author(s):  
James Oliver
Keyword(s):  

2010 ◽  
Vol 37 (12) ◽  
pp. 2633-2635 ◽  
Author(s):  
VOLKER GASSLING ◽  
JÖRG WILTFANG ◽  
JOCHEN HAMPE ◽  
JAN HINRICH BRÄSEN ◽  
MARCUS BOTH ◽  
...  

Author(s):  
Asma Elkarouachi ◽  
Ahmed Ballati ◽  
Mohamed Asmar ◽  
Saad Rifki El Jai ◽  
Rachid Boufettal ◽  
...  

This article focuses on the symptomatic and diagnostic problems of primary duodenal adenocarcinoma by way of two case reports and a literature review.The diagnosis of primary duodenal adenocarcinoma is often delayed because its symptoms may be absent until the tumor has progressed, thus leading to a delay of several months. Patients typically present with a long history of variable and vague symptoms, and many are diagnosed with advanced disease. As regards clinical manifestations, abdominal pain is the most frequent symptom. The majority of these tumors are found to have infiltrated the duodenal wall at presentation, with many being unresectable due to local and distal invasion.


2020 ◽  
pp. 135245852095201
Author(s):  
Cigdem Yilmazer ◽  
Ilse Lamers ◽  
Claudio Solaro ◽  
Peter Feys

Pain is an important and frequent symptom in multiple sclerosis (MS), which leads to a low quality of life, increased disability level, and lack of employment and mental health. Recently, studies have shown increased interest in pain in MS and there is a growing evidence of its prevalence. However, the literature suffers from lack of experimental studies focusing on pain reduction. This topical review summarizes the current knowledge about pain in MS with its definitions, assessments, treatments and rehabilitation within a holistic perspective.


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