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Total 203 results found since Jan 2013.
P.21.7 Rippling muscle disease associated with myasthenia gravis: A case report
We present a case of a man (66y.) hospitalized two years ago in the Medical University of Warsaw, Department of Neurology with muscle stiffness, pain, cramps and involuntary muscle rolling contraction provoked by mechanical stimuli. Fifteen years ago he experienced a 3months-long period of diplopia and ptosis. At that time MG was excluded on the basis of normal repetitive stimulation nerve (RNS) tests, SFEMG and normal chest CT scan. Acetylocholine receptor autoantibody (AChRAb) was not tested at that time. Cerebral arteries and brain stem pathology were excluded.Muscle symptoms which were the reason of the hospitalization...
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: A. Lusakowska, M. Gawel, A.M. Kaminska Source Type: research
P.9.2 Autosomal dominant nemaline myopathy with marked intrafamilial phenotypic variability
We report a family of autosomal dominant (AD) myopathy with marked intrafamilial phenotypic variability.A 12month old female neonate presented with hypotonia, developmental delay and failure to thrive. The patient had lip cyanosis followed by cardiac arrest. After treatment, she was unable to wean the ventilator, and currently shows hypotonia, with slight improvement. The laboratory findings and brain imaging were unremarkable. Genetic tests for common inherited neuromuscular disorders returned normal. The muscle biopsy showed intranuclear rods with selective type 1 fiber atrophy. Electron microscopy demonstrated severe lo...
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: J.S. Park, J.H. Shin, S.J. Hwang, D.S. Kim Source Type: research
P.21.7 Rippling muscle disease associated with myasthenia gravis: A case report
We present a case of a man (66y.) hospitalized two years ago in the Medical University of Warsaw, Department of Neurology with muscle stiffness, pain, cramps and involuntary muscle rolling contraction provoked by mechanical stimuli. Fifteen years ago he experienced a 3months-long period of diplopia and ptosis. At that time MG was excluded on the basis of normal repetitive stimulation nerve (RNS) tests, SFEMG and normal chest CT scan. Acetylocholine receptor autoantibody (AChRAb) was not tested at that time. Cerebral arteries and brain stem pathology were excluded.Muscle symptoms which were the reason of the hospitalization...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: A. Lusakowska, M. Gawel, A.M. Kaminska Source Type: research
P.9.2 Autosomal dominant nemaline myopathy with marked intrafamilial phenotypic variability
We report a family of autosomal dominant (AD) myopathy with marked intrafamilial phenotypic variability.A 12month old female neonate presented with hypotonia, developmental delay and failure to thrive. The patient had lip cyanosis followed by cardiac arrest. After treatment, she was unable to wean the ventilator, and currently shows hypotonia, with slight improvement. The laboratory findings and brain imaging were unremarkable. Genetic tests for common inherited neuromuscular disorders returned normal. The muscle biopsy showed intranuclear rods with selective type 1 fiber atrophy. Electron microscopy demonstrated severe lo...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: J.S. Park, J.H. Shin, S.J. Hwang, D.S. Kim Source Type: research
Massive gastrointestinal dilatation in a case of hereditary hollow visceral myopathy
Hereditary hollow visceral myopathy (HHVM) is a rare genetic cause of intestinal pseudo-obstruction described sparingly in the literature . A 21-year-old-male was diagnosed with HHVM based on clinical symptoms, gastroduodenal manometry demonstrating low-amplitude contractions in the stomach and small intestines, and intestinal histopathology demonstrating diffuse fibrous replacement of smooth muscle; his father was also affected, with similar manometric and histopathologic changes. He presented acutely to the Emergency Room with complaints of abdominal pain, recurrent emesis of feculent material, and severe gaseous distent...
Source: Digestive and Liver Disease - July 1, 2013 Category: Gastroenterology Authors: Robert J. Huang, Chohee Yun, Linda Nguyen Tags: Image of the Month Source Type: research
Adult osteomalacia: A treatable cause of "fear of falling" gait
A 65-year-old man was hospitalized with a gait disorder, obliging him to shuffle laterally1 (video on the Neurology® Web site at www.neurology.org) because of pain and proximal limb weakness. He had a gastrectomy for cancer 7 years previously, with severe vitamin D deficiency; parathormone and alkaline phosphatase were increased, with reduced serum and urine calcium and phosphate. There was reduced bone density (figure). He was mildly hypothyroid and pancytopenic. B12 and folate levels were normal. Investigation for an endocrine neoplasm (CT scan, Octreoscan) was negative. EMG of proximal muscles was typical for chroni...
Source: Neurology - May 27, 2013 Category: Neurology Authors: Ripellino, P., Terazzi, E., Bersano, E., Cantello, R. Tags: Endocrine, Gastrointestinal, Gait disorders/ataxia, Muscle disease, All Neuropsychology/Behavior VIDEO NEUROIMAGES Source Type: research
ANO5 mutations in the Dutch limb girdle muscular dystrophy population
Abstract: A Dutch cohort of 105 limb girdle muscular dystrophy (LGMD) patients were subject to subsequent genetic investigations. In half the families a causative mutation was found. Recently mutations were identified in ANO5 causing LGMD2L and Miyoshi-like myopathy (MMD3), but could also be found in patients with hyperCKemia only. Therefore, we analysed the index cases of the remaining 31 as yet undiagnosed families from our previously described cohort of LGMD patients for the presence of ANO5 mutations. Detailed history and neurological examination were available for all patients. Serum creatine kinase (CK) activity, ske...
Source: Neuromuscular Disorders - April 22, 2013 Category: Neurology Authors: Anneke J. van der Kooi, Leroy ten Dam, Wendy S. Frankhuizen, Chiara S.M. Straathof, Pieter A. van Doorn, Marianne de Visser, Ieke B. Ginjaar Tags: Research papers Source Type: research
The lung is involved in juvenile dermatomyositis
ConclusionThe frequency of lung involvement in children with JDM justifies systematic respiratory assessment with PFT including measures of respiratory muscle strength. We suggest that a chest HRCT scan is indicated in cases of respiratory symptoms and/or PFT abnormalities. Longitudinal studies are needed to assess pediatric characteristics, long‐term outcomes, and responses to treatment taking into account the risk–benefit ratio. Pediatr Pulmonol. © 2012 Wiley Periodicals, Inc.
Source: Pediatric Pulmonology - December 31, 2012 Category: Respiratory Medicine Authors: Guillaume Pouessel, Antoine Deschildre, Muriel Le Bourgeois, Jean‐Marie Cuisset, Benoit Catteau, Chantal Karila, Véronique Nève, Caroline Thumerelle, Pierre Quartier, Isabelle Tillie‐Leblond Tags: Original Article: Other Source Type: research
