Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The co-occurrence of myasthenia gravis and AIDS in a 38 year old drug addict with HIV-infection is reported. The diagnosis "myasthenia gravis" is based on clinical features with muscle weakness worsening with exercise and depending on the time of day, and secondly on the result of electrophysiological tests, with a typical decrement in repetitive nerve conduction study, and on the presence of antibodies to acetylcholine receptors. A co-existing neurosyphilis was treated intravenously with penicillin G, resulting in good improvement of the associated myopathy. The remaining muscle weakness responded well to treatment with pyridostigmine bromide started after the end of the antibiotic therapy. A tumor in the anterior mediastinum measuring 3 by 2 cm was diagnosed by CT scan and removed, histology showed normal thymus tissue. After operation the patient became asymptomatic on treatment with low dosage pyridostigmine (3 x 30 mg). The association of myasthenia gravis with AIDS may derive from an alteration of the immune system based on changes in the thymus gland. Differential diagnosis in AIDS patients with generalized weakness should include a myasthenic reaction.
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PMID:[Myasthenia gravis in AIDS and neurosyphilis]. 850 18

Bromide toxicosis was diagnosed in an 8-year-old Labrador Retriever that had been treated for epilepsy with potassium bromide, at a dosage of 29 mg/kg of body weight/d. Clinical signs included hind limb weakness, ataxia, and disorientation. Renal insufficiency, diagnosed by determination of endogenous creatinine clearance, was believed to be responsible for the development of bromide toxicosis in this dog. Diuresis with physiologic saline solution and discontinuation of bromide and phenobarbital treatment resulted in rapid resolution of abnormal neurologic signs; however, serum bromide concentrations decreased dramatically during diuresis and seizures recurred. Although saline diuresis has been recommended for the treatment of bromide intoxication in human beings, more conservative measures, such as discontinuation of bromide and short-term fluid administration, may be more appropriate for epileptic dogs.
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PMID:Bromide toxicosis secondary to renal insufficiency in an epileptic dog. 856 78

Fifteen black children with juvenile myasthenia gravis presented to our institution over a 10-year period at ages ranging from 18 months to 7 years, 4 males and 11 females. Twelve presented with progressive, generalised weakness and 3 had bulbar manifestations. Ocular signs were absent in 2 patients. All 15 patients were placed on pyridostigmine bromide (Mestinon) and 1 also required steroids and plasmapheresis. Medical therapy only was instituted in 5 patients, of whom 2 came to surgery, 2 died, and 1 was lost to follow-up. Thymectomy was performed in 12 children (including the 2 with failed medical therapy) via a median sternotomy with no mortality or morbidity related to the operation. The timing of surgery was less than 3 months in 75% of the children. Thymic hyperplasia was noted in 10 glands and 2 were reported as normal. Of the children in the operative group, 83% are on minimal medication or in total remission. Better results were noted in young patients with early thymectomy and diseased glands.
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PMID:Thymectomy in black children with juvenile myasthenia gravis 906 8

Fifteen black children with juvenile myasthenia gravis presented to our institution over a 10-year period at ages ranging from 18 months to 7 years, 4 males and 11 females. Twelve presented with progressive, generalised weakness and 3 had bulbar manifestations. Ocular signs were absent in 2 patients. All 15 patients were placed on pyridostigmine bromide (Mestinon) and 1 also required steroids and plasmapheresis. Medical therapy only was instituted in 5 patients, of whom 2 came to surgery, 2 died, and 1 was lost to follow-up. Thymectomy was performed in 12 children (including the 2 with failed medical therapy) via a median sternotomy with no mortality or morbidity related to the operation. The timing of surgery was less than 3 months in 75% of the children. Thymic hyperplasia was noted in 10 glands and 2 were reported as normal. Of the children in the operative group, 83% are on minimal medication or in total remission. Better results were noted in young patients with early thymectomy and diseased glands.
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PMID:Thymectomy in black children with juvenile myasthenia gravis. 915 33

A 6-yr-old boy presented with muscle weakness, lactic acidemia, and insulin-dependent diabetes mellitus (IDDM). Using PCR and restriction enzyme analysis, he was found to have the classical A3248G mitochondrial DNA (mtDNA) mutation frequently associated with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). The mutation was confirmed by sequencing muscle mtDNA. The mutation in mtDNA from muscle, lymphoblasts, and blood was clearly demonstrable by standard methods using ethidium bromide staining. His mother also had IDDM, but no A3243G mutation could be detected in her blood or transformed lymphoblasts using the same PCR technique. When PCR was carried out in the presence of [32P]deoxycytidine triphosphate, subsequent autoradiography detected the presence of the mutation at low levels in mtDNA from the mother's lymphoblasts and blood. Study of the mother's muscle showed a mitochondrial myopathy, despite the fact that she was asymptomatic. We emphasize that the increased sensitivity of radiolabeled PCR may be necessary to detect small percentages of heteroplasmic A3243G mtDNA mutation in blood from diabetic subjects. Otherwise the incidence of mtDNA mutations in both IDDM and non-insulin dependent diabetes may be underestimated.
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PMID:Diabetes and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS): radiolabeled polymerase chain reaction is necessary for accurate detection of low percentages of mutation. 928 4

Myotonic dystrophy (DM), or Steinert's disease, is an autosomal dominant disease characterized by myotonia, muscular weakness and atrophy, as well as lens opacities, cardiomyopathy and mild endocrine changes. The gene for DM located on 19q contains a triplet repeat at the 3' end of the gene. In DM patients, this repeat is found to be expanded. We have previously described a preimplantation genetic diagnosis (PGD) for DM using polymerase chain reaction (PCR) followed by conventional analysis on ethidium bromide-stained gels. The major drawback of this system was that allelic dropout occurred in >20% of the cells, leading to the loss of healthy embryos for transfer. To resolve this problem, we developed a PGD for DM using fluorescent PCR followed by fragment analysis on an automated DNA sequencer and made a comparison between the conventional PCR described earlier and fluorescent PCR, which turned out to be superior in accuracy and efficiency. Three PGD cycles were performed using fluorescent PCR and are described here.
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PMID:Fluorescent PCR and automated fragment analysis for the clinical application of preimplantation genetic diagnosis of myotonic dystrophy (Steinert's disease). 973 37

Four, three- to four-week-old Brahman calves, with a common sire and a common maternal grandsire, developed progressive muscular weakness which was exacerbated by exercise and improved with rest. Although the calves remained alert and continued sucking, their neuromuscular condition deteriorated and they had to be euthanased within four to six weeks. The one calf in which an attempt was made to diagnose the condition responded quickly, but transiently, to the intravenous administration of edrophonium chloride and for a longer period to oral pyridostigmine bromide. Repeated stimulation of a peripheral nerve resulted in a decrease in the amplitude of the evoked muscle action potential. A definitive diagnosis could not be made but the condition showed many similarities to congenital myasthenia gravis, which has not previously been described in cattle.
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PMID:Suspected congenital myasthenia gravis in Brahman calves. 983 64

To investigate complaints of Gulf War veterans, epidemiologic, case-control and animal modeling studies were performed. Looking for OPIDP variants, our epidemiologic project studied 249 Naval Reserve construction battalion (CB24) men. Extensive surveys were drawn for symptoms and exposures. An existing test (PAI) was used for neuropsychologic. Using FACTOR, LOGISTIC and FREQ in 6.07 SAS, symptom clusters were sought with high eigenvalues from orthogonally rotated two-stage factor analysis. After factor loadings and Kaiser measure for sampling adequacy (0.82), three major and three minor symptom clusters were identified. Internally consistent by Cronbach's coefficient, these were labeled syndromes: (1) impaired cognition; (2) confusion-ataxia; (3) arthro-myo-neuropathy; (4) phobia-apraxia; (5) fever-adenopathy; and (6) weakness-incontinence. Syndrome variants identified 63 patients (63/249, 25%) with 91 syndromes. With pyridostigmine bromide as the drug in these drug-chemical exposures, syndrome chemicals were: (1) pesticide-containing flea and tick collars (P < 0.001); (2) alarms from chemical weapons attacks (P < 0.001), being in a sector later found to have nerve agent exposure (P < 0.04); and (3) insect repellent (DEET) (P < 0.001). From CB24, 23 cases, 10 deployed and 10 non-deployed controls were studied. Auditory evoked potentials showed dysfunction (P < 0.02), nystagmic velocity on rotation testing, asymmetry on saccadic velocity (P < 0.04), somatosensory evoked potentials both sides (right P < 0.03, left P < 0.005) and synstagmic velocity after caloric stimulation bilaterally (P-range, 0.02-0.04). Brain dysfunction was shown on the Halstead Impairment Index (P < 0.01), General Neuropsychological Deficit Scale (P < 0.03) and Trail Making part B (P < 0.03). Butylcholinesterase phenotypes did not trend for inherent abnormalities. Parallel hen studies at Duke University established similar drug-chemical delayed neurotoxicity. These investigations lend credibility that sublethal exposures to drug-chemical combinations caused delayed-onset neurotoxic variants.
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PMID:Epidemiological association in US veterans between Gulf War illness and exposures to anticholinesterases. 1002 6

Acute quadriplegic myopathy is a rare condition associated with the use of nondepolarizing muscle-blocking agents and corticosteroids in the course of severe systemic illness. A 17-month-old boy underwent liver transplantation for fulminant hepatitis. He was intubated for 24 days and treated with vecuronium bromide and high-dose methylprednisolone. The child was weaned from the ventilator and presented extreme weakness in the upper limbs and total paralysis of the lower limbs. Serum creatine kinase level was normal and electromyography showed myopathic abnormalities. Muscle biopsy showed severe type-1 fiber atrophy and selective loss of myosin thick filaments was seen on electron microscopy. Scattered regenerating fetal myosin-positive fibers were present, mu calpain was absent, while m calpain was diffusely expressed. Physical therapy was immediately started and the child recovered even though corticosteroids were not discontinued. The pathogenesis of acute quadriplegic myopathy is still unknown. We suggest that it could be due to abnormal protein turnover in the muscle. Several independent factors, such as corticosteroid treatment, immobilization, or cytokines, could take part in a cascade of events that leads to an excessive yet selective degradation of proteins involving myosin thick filaments and possibly components of sarcolemma, causing muscle inexcitability.
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PMID:Acute quadriplegic myopathy in a 17-month-old boy. 1064 15

Many Persian Gulf War veterans took pyridostigmine bromide (PB) during the Persian Gulf War. Previous research suggests that PB intake and insecticide exposure may reduce muscular strength. During 1994 and 1995, we examined the relationships between self-reported PB intake, self-reported exposures, and handgrip strength among 527 Gulf War veterans (GWVs) and 969 nondeployed veterans of that era (NDVs). We found that 25.4% and 6.7% of the GWVs and NDVs, respectively, reported generalized musucle weakness (for 1 month or longer) since the Gulf War (July 1990). Many veterans also reported exposure to insecticide during the war. Dominant handgrip strength was measured three times with a hand-held dynamometer in subjects standing with the elbow bent at a right angle. Multiple linear regression revealed that handgrip strength was negatively associated with age (p = 0.001) and female gender (p < 0.001). Handgrip strength was also found to be positively associated with height (p < 0.001), but it was not associated with PB intake (p = 0.558). Exposure to insecticides had no major effect on handgrip strength. These data suggest no association between PB intake and postwar handgrip strength.
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PMID:Pyridostigmine bromide intake during the Persian Gulf War is not associated with postwar handgrip strength. 1074 Oct 74


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