11/311. critical illness neuromuscular disease: clinical, electrophysiological, and prognostic aspects.BACKGROUND: critical illness neuromuscular disease, which has been recognised as a distinct clinical entity in adults, remains poorly described in children. AIMS: To assess retrospectively the clinical, electrophysiological, and prognostic features of the disease. methods: Retrospective study in a children's university hospital. RESULTS: Five critically ill patients presented with generalised paralysis, associated with long lasting failure to breathe in three. The cause of the generalised paralysis was critical illness neuropathy in two, acute myopathy in two, and mixed neuromyopathy in one. CONCLUSIONS: Neuromuscular disease should be suspected in critically ill children with muscle weakness. Because corticosteroids and muscle relaxants appear to trigger some types of intensive care unit neuromuscular disease in children, their use should be restricted or administered at the lowest doses possible.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
12/311. Resection of the hook of the hamate. Its place in the treatment of median and ulnar nerve entrapment in the hand.Poor results can be anticipated with conventional surgical decompression of nerves entrapped within the hand in (1) those with underlying systemic disease causing primary neuropathy, (2) those with combined median and ulnar nerve palsies, and (3) those who have been previously operated upon for nerve entrapment within the hand. Eighteen patients belonging in these categories were surgically treated by resection of the hook of the hamate and (in some) by intraneural neurolysis. Using this technique, we have decreased our failure rate from 20 percent to less than one percent. We believe that failures can be eliminated if the patients destined to have poor results from the usual treatment are identified preoperatively and a more aggressive surgical decompression is used on this "at risk" group.- - - - - - - - - - ranking = 0.125keywords = disease (Clic here for more details about this article) |
13/311. "Myotubular Myopathy" and "type I fiber atrophy" in a family.An 11-month-old girl and her mother had similar muscular weakness and wasting shich started in early life and were non-progressive throughout the course of the illness. Muscle biopsy in the girl revealed muscle fibers with central nuclei and surrounding clear areas compatible with myotubular, centronuclear or peri-centri-nuclear myopathy, whereas the biopsy from the mother showed a selective atrophy of Type I fibers without central nuclei. Since the grandfather also had similar clinical features, a heredofamilial neuromuscular disease was thought likely, and it is postulated that the pathological change in the girl represented an earlier, and in the mother a later manifestation of the same disease.- - - - - - - - - - ranking = 0.25keywords = disease (Clic here for more details about this article) |
14/311. Electrical impedance of muscle during isometric contraction.Non-invasive measurements of the 50 kHz impedance of the anterior forearm show that the resistance and reactance increase under voluntary isometric contraction of the finger flexor muscles. The relationship between impedance and force is nonlinear, dependent on the type of test, the history of prior exercise, and the health status of the subject. Nevertheless, useful dynamic response parameters betaR = deltaR/R0deltaF and betax = deltaX/X0deltaF can be defined, typically a few hundredths of a per cent per newton. Evidence is presented for the view that these effects reflect dominantly physiological as opposed to morphological changes in the muscle. In particular, (a) the impedance changes many milliseconds before the force is generated, (b) betaR and betaX change substantially during a series of repetitions of the same exercise, and (c) the impedance does not return to its original value following relaxation of the muscle. Supporting data are presented for six healthy men and women, with ages ranging from 19 to 70 years. A preliminary study of patients with various neuromuscular diseases was also performed, amongst whom marked quantitative and qualitative contrasts with the healthy group were found. Further research aimed at assessing the clinical potential of such measurements is discussed, as are studies to elucidate the underlying mechanisms for the impedance changes. We propose the name 'dynamic electrical impedance myography' for this new technique.- - - - - - - - - - ranking = 0.125keywords = disease (Clic here for more details about this article) |
15/311. Long-term follow-up of home mechanical ventilation in young children with spinal cord injury and neuromuscular conditions.OBJECTIVES: To provide outcomes of two decades of experience in home ventilation of children with spinal cord injury and neuromuscular conditions. STUDY DESIGN: Data were collected through chart review and interviews on 39 children who had become ventilator-dependent before their 6th birthday; 23 children had neuromuscular diseases and 16 had spinal cord injuries. RESULTS: patients required an average of 0.7 rehospitalizations per year. There were 8 deaths. survival rates were 97% at 1 year, 97% at 3 years, 84% at 5 years, and 71% at 10 years. Thirty children attended school, 13 were in regular school (1 at university level), 5 were home-schooled, 5 were in special education schools, and 5 were in regular school with some special education classes. One graduated high school, and another graduated university and received a graduate degree. Three children had progressive weakness. Two gained significant muscle strength. CONCLUSIONS: Our experience showed that these patients can be discharged to home with low morbidity and mortality rates and successful reintegration into the community.- - - - - - - - - - ranking = 0.125keywords = disease (Clic here for more details about this article) |
16/311. McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement.BACKGROUND: The X-linked McLeod neuroacanthocytosis syndrome is a multisystem disorder with hematologic, neuromuscular, and central nervous system (CNS) manifestations. All carriers of the McLeod blood group phenotype examined so far had at least subclinical signs of systemic involvement. STUDY DESIGN AND methods: Evaluation of two brothers carrying the McLeod phenotype with neurologic examination, immunohematology, RBC membrane protein Western blotting, analysis of XK dna sequence and rna levels, muscle histology including XK/Kell immunohistochemistry, cerebral magnetic resonance imaging (MRI), and quantified positron emission tomography (PET). RESULTS: Immunohematology and Western blotting confirmed presence of the McLeod blood group phenotype. No acanthocytosis or other hematologic anomalies were found. XK gene sequence analysis revealed a missense mutation in exon 3 (E327K). WBC XK rna levels were not decreased. There were no neuromuscular and CNS signs or symptoms. In addition, no subclinical involvement was discovered on the basis of normal muscle histology with a physiologic pattern of XK and Kell immunohistochemistry, normal cerebral MRI, and quantified PET. CONCLUSION: Known disease-causing XK gene mutations comprised deletions, nonsense, or splice-site mutations predicting absent or truncated XK protein devoid of the Kell-protein binding site. Although the E327K missense mutation was associated with the immunohematologic characteristics of McLeod syndrome, the mutated XK protein seemed to be largely functional. These findings contribute to the understanding of the physiology of XK and Kell proteins, and the pathogenetic mechanisms of acanthocytosis, myopathy, and striatal neurodegeneration in McLeod syndrome.- - - - - - - - - - ranking = 0.125keywords = disease (Clic here for more details about this article) |
17/311. McLeod syndrome resulting from a novel XK mutation.McLeod syndrome (MLS) is a rare X-linked disorder characterized by haemopoietic abnormalities and late-onset neurological and muscular defects. The McLeod blood group phenotype is typically associated with erythrocyte acanthocytosis, absence of the Kx antigen and reduced expression of Kell system antigens. MLS is caused by hemizygosity for mutations in the XK gene. We describe a patient with MLS who first showed symptoms in 1989 (aged 51 years). As the disease progressed, the patient developed a slight dementia, aggressive behaviour and choreatic movements. A cardiomyopathy was also diagnosed. An electroneuromyography showed neuropathic and myopathic changes. liver enzymes were elevated and a blood smear showed acanthocytes. MLS was confirmed by serological analysis of the Kell antigens. Analysis of red blood cells by flow cytometry revealed the patient and his grandson to have reduced Kell antigen expression. The patient's daughters had two populations of red cells, consistent with them being heterozygous for an XK0 allele. The molecular basis of MLS in this family is a novel mutation consisting of a 7453-bp deletion that includes exon 2 of the XK gene. This confirms that the patient's 7-year-old grandson, who is currently asymptomatic, also has the XK0 allele and is therefore likely to develop MLS.- - - - - - - - - - ranking = 0.125keywords = disease (Clic here for more details about this article) |
18/311. Cytochrome C oxidase-deficient mitochondria in mitochondrial myopathy.Electron microscopic cytochemistry was used to evaluate the behavior of cytochrome c oxidase (COX) in cultured skin fibroblasts from 4 patients with decreased COX activity (Leigh encephalopathy, fatal infantile COX deficiency). In patients with Leigh encephalopathy, all mitochondria reacted to COX staining either equivocally or negatively, indicating that all mitochondria were abnormal in these patients. In 1 patient with fatal infantile COX deficiency, intercellular heterogeneity of mitochondria was observed by COX staining. In another patient with fatal infantile COX deficiency, intracellular heterogeneity of mitochondria was observed. patients with Leigh encephalopathy appeared to have a different type of mitochondrial COX deficiency than those with fatal infantile COX deficiency. Our result suggest that these 2 diseases may result from different genetic mechanisms.- - - - - - - - - - ranking = 0.125keywords = disease (Clic here for more details about this article) |
19/311. An autopsy case of late infantile and juvenile neuroaxonal dystrophy with diffuse lewy bodies and neurofibrillary tangles.The clinical and pathological features of a sporadic case of juvenile neuroaxonal dystrophy beginning at the age of 10 and leading to death at the age of 26 are described. Clinical manifestation began with cerebellar symptoms. The subject subsequently developed dementia, pes cavus (Friedreich's feet), epilepsy, myoclonus, and Parkinsonian syndrome, but demonstrated neither tremor nor choreoathetoid movement. Pathological examination showed typical generalized axonal dystrophy throughout the central nervous system (Seitelberger's disease). iron-positive pigmentation was seen in the pallidonigral system, diffuse lewy bodies (brainstem type and cerebral type) were demonstrated in the brainstem nuclei and cerebral cortex, and neurofibrillary tangles were observed.- - - - - - - - - - ranking = 0.125keywords = disease (Clic here for more details about this article) |
20/311. methionine in the treatment of nitrous-oxide-induced neuropathy and myeloneuropathy.Two cases of severe myeloneuropathy and macrocytic anemia associated with a low serum level of vitamin B12 after prolonged exposure to nitrous oxide are reported. In both cases, the neurological manifestations worsened initially despite B12 supplementation, although in one case the use of methionine seemed to arrest the progression of the disease and accelerate recovery. This offers further support for the biochemical hypothesis of methionine synthetase inhibition by nitrous oxide and reproduces in man previously reported animal studies with methionine. methionine may be an important first-line therapy in the initial treatment of neuropathy and myeloneuropathy induced by nitrous oxide, and has a hypothetical role in the treatment of subacute combined degeneration of the cord.- - - - - - - - - - ranking = 0.125keywords = disease (Clic here for more details about this article) |
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