1/311. Chronic hepatitis b and neurogenic muscle disease: case report.A 17 year-old boy with chronic hepatitis b who developed left-sided muscle wasting is reported. When other possible known diseases as the cause of the neurogenic muscle disease were excluded it was hypothesised that there was a relation between the chronic hepatitis b infection and the neurogenic muscle disease. An immunopathogenesis could be explained by the presence of HBsAg in the cerebral spinal fluid.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
2/311. Selected legal issues in movement disorders.This article explores the long-standing question of whether trauma causes Parkinson's disease, and discusses the impact of informed consent and confidentiality in issues of genetic testing for Huntington's disease. Neurologists are appropriately concerned about the legal aspects of genetic testing, and this article attempts to address that subject from a medical-legal perspective.- - - - - - - - - - ranking = 0.28571428571429keywords = disease (Clic here for more details about this article) |
3/311. A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy.Bethlem myopathy is a mild neuromuscular disorder with proximal muscular weakness and early flexion contractures. It is an autosomal dominant disease due to mutations in type VI collagen genes. We found a T-->C substitution at the 2 position of COL6A1 intron 14 in a family, leading to skipping of exon 14 and an in-frame deletion of 18 amino acids in the triple-helical domain of the alpha1(VI) collagen chain. The deletion included a cysteine residue believed to be involved in the assembly of type VI collagen dimers intracellularly, prior to the protein secretion. Analysis of the affected fibroblasts showed that the shortened alpha1(VI) collagen chains were synthesized but not secreted by the cells and that the amount of type VI collagen microfibrils deposited by the cells was reduced. The results suggest that the clinical phenotype is due to a reduction in the level of type VI collagen in the extracellular matrix.- - - - - - - - - - ranking = 0.14285714285714keywords = disease (Clic here for more details about this article) |
4/311. A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.Bethlem myopathy is an autosomal dominant inherited disease producing a mild neuromuscular disorder, characterized mainly by muscular weakness and multiple joint contractures. Bethlem myopathy is caused by mutations in one of the three chains of collagen type vi. Here we report the clinical description and the molecular characterization of the defect in a two-generation Italian family in which a Gly-->Arg substitution disrupts the triple helix structure of the alpha 3 chain of collagen type vi, an ubiquitous glycoprotein of the extracellular matrix. In this family the identification of the mutation also allowed one to exclude the disease in the grandfather. It is noteworthy that the father of the proband carries a de novo mutation, the first described for Bethlem myopathy.- - - - - - - - - - ranking = 0.28571428571429keywords = disease (Clic here for more details about this article) |
5/311. Subaxial cervical synovial cyst presenting with myelopathy. Report of three cases.Synovial cysts occur infrequently in the spinal canal and are most often associated with degenerative facet joints. Despite the prevalence of degenerative spinal disease, symptomatic synovial cysts are extremely uncommon. There have been only two previously reported cases of subaxial degenerative synovial cysts of the cervical spine in patients who presented with a clinical picture of spinal cord compression. The authors report three additional patients treated for degenerative cervical synovial cysts who presented with myelopathy. In all three patients the cyst was successfully excised and a good clinical outcome achieved.- - - - - - - - - - ranking = 0.14285714285714keywords = disease (Clic here for more details about this article) |
6/311. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.Mammalian cytochrome c oxidase (COX) catalyses the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. Mitochondrial dna (mtDNA) encodes three COX subunits (I-III) and nuclear dna (nDNA) encodes ten. In addition, ancillary proteins are required for the correct assembly and function of COX (refs 2, 3, 4, 5, 6). Although pathogenic mutations in mtDNA-encoded COX subunits have been described, no mutations in the nDNA-encoded subunits have been uncovered in any mendelian-inherited COX deficiency disorder. In yeast, two related COX assembly genes, SCO1 and SCO2 (for synthesis of cytochrome c oxidase), enable subunits I and II to be incorporated into the holoprotein. Here we have identified mutations in the human homologue, SCO2, in three unrelated infants with a newly recognized fatal cardioencephalomyopathy and COX deficiency. Immunohistochemical studies implied that the enzymatic deficiency, which was most severe in cardiac and skeletal muscle, was due to the loss of mtDNA-encoded COX subunits. The clinical phenotype caused by mutations in human SCO2 differs from that caused by mutations in SURF1, the only other known COX assembly gene associated with a human disease, Leigh syndrome.- - - - - - - - - - ranking = 0.14285714285714keywords = disease (Clic here for more details about this article) |
7/311. Central core disease and congenital neuromuscular disease with uniform type 1 fibers in one family.We report a family in which the father had central core disease and his son had congenital neuromuscular disease with uniform type 1 fibers. This is the first report of such a combination. Although they had no recognized mutation in the ryanodine receptor gene, it is highly likely that the son also had central core disease but without core structures. The absence of cores may be due to the muscle sample or the young age of the patient since core structures have been reported to increase with age. Although the prevalence of core structures in individual muscles is unknown, there is a possibility of sampling error. In some patients, congenital neuromuscular disease with uniform type 1 fibers is closely related to or identical with central core disease.- - - - - - - - - - ranking = 1.8571428571429keywords = disease (Clic here for more details about this article) |
8/311. Terminal renal failure due to oxalosis in 14 patients.The present status of regular dialysis and renal transplantation in patients with end-stage renal disease secondary to primary hyperoxaluria is reported. Clinical studies include one personal case with an 18-month period of follow-up and data concerning thirteen patients treated in 10 centres in europe which have been collected through a cooperative survey carried out with the assistance of Registry of the EDTA. On January 1 st, 1974, mean survival of patients with oxalosis treated by RDT was 30.4 months (range 6 to 102 months). Five cadaveric renal transplants have been performed in four patients; two patients are surviving with grafts functioning for 18 and 45 months. dialysis and/or transplantation should be performed in patients with oxalosis early enough to prevent ischaemic, cardiac and neuromusclar complications which occur at the end-stage of the disease. Evidence for blood coagulation disorders, particularly chronic consumption coagulopathy, should be investigated for with adequate laboratory methods and long-term heparin therapy instituted if necessary. No convincing reports concerning the efficiency of the various drugs which have been tried out to reduce the biosynthesis of oxalic acid in patients with oxalosis have been issued to this date.- - - - - - - - - - ranking = 0.28571428571429keywords = disease (Clic here for more details about this article) |
9/311. Acute care pediatric electromyography.The recognition of uncommon pediatric motor unit disorders or unusual clinical presentations of common illnesses, such as guillain-barre syndrome (GBS), have increased the need for electromyography (EMG) in childhood critical care units. There are two different clinical sets, one appropriate to newborns and infants and the other to older children. Some illnesses that present as an acute floppy infant are not found in the differential diagnosis of motor unit disorders in the older child or adult. These include spinal muscular atrophy, postvaccine poliomyelitis, intrauterine GBS, infantile botulism, and severe myopathies, such as myotonia dystrophy, and some glycogen storage diseases. An appreciation of the neurophysiological maturational norms is essential to an effective pediatric EMG consultation for children ages 0-3 years. Additionally, the neuromuscular complications of extended intubation and sepsis in children are gaining broader recognition. An increased dialogue between clinical neurophysiologists and pediatric neurologists and intensivists in both neonatal and pediatric intensive care units is essential.- - - - - - - - - - ranking = 0.14285714285714keywords = disease (Clic here for more details about this article) |
10/311. Mononeuropathy of the deep palmar branch of the ulnar nerve. A case occurring in a diabetic woman.A diabetic woman developed mononeuropathy of the deep palmar branch of the ulnar nerve six months following repetitive palmar trauma. The illness was initially incorrectly diagnosed as motor neuron disease, emphasizing the importance of accurate diagnosis of diseases that cause wasting of intrinslc muscles in the hand.- - - - - - - - - - ranking = 0.28571428571429keywords = disease (Clic here for more details about this article) |
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