Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 9 year old male previously diagnosed as progressive muscular dystrophy whose serum CPK5430IU.l-1 was very high received general anesthesia. Before anesthesia, dantrolene sodium 2 mg.kg-1 was given. Anesthesia was induced with thiamylal 100 mg and vecuronium bromide 3 mg. Anesthesia was maintained with sevoflurane (0.5%) in nitrous oxide (66%) and oxygen (33%). The course of anesthesia was uneventful. The operative time was 80 minutes. At the end of the operation, the patient recovered smoothly from anesthesia. A 46 year old female with dystrophia myotonia also received general anesthesia. The patient was diagnosed as having this disease 26 years previously. Preoperatively, the patient was suspected to have cardiac damage. Anesthesia was induced with thiamylal 100 mg, fentanyl 100 micrograms, midazolam 5 mg and vecuronium bromide 4 mg, and maintained with sevoflurane (1.0%) in nitrous oxide (66%) and oxygen (33%). Anesthesia was uneventful, but at the end of the operation, the patient could not breath fully by herself. She was placed on a ventilator and observed carefully. The endotracheal tube was removed 150 minutes after the induction of anesthesia. In these two cases, sevoflurane and vecuronium bromide were used safely.
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PMID:[General anesthesia with sevoflurane and vecuronium for patients with dystrophia myotonica and progressive muscular dystrophy]. 168

We have studied the structure of myosin heavy chain (MHC) in the pectoralis muscle of genetically dystrophic (Connecticut Strain) and White Leghorn chicks. MHC was alkylated with N-ethylmaleimide, purified by Sepharose-4B chromatography, and cleaved with cyanogen bromide. The MHC CNBr peptides were analyzed by one-dimensional and two-dimensional isoelectric focusing/sodium dodecyl sulfate gradient gels and by amino acid sequencing. Specific changes were detected in the gel patterns which could be correlated with the loss of muscle function as measured by the exhaustion score (the ability of chicks to rise from a reclining position) in three experimental groups (exhaustion scores: less than 3, 10-20, greater than 30). We have also examined the amino acid sequence of a 3-methyl-histidine-containing peptide which originates from the 20-kDa fragment of pectoralis muscle MHC in dystrophic chicks: Val-Leu-Asn-Ala-Ser-Ala-Ile-Pro-Glu-Gly-*Gln-Phe-*Ile-Asp-Ser-Lys-Lys- Ala-Ser-Leu-Gln-Lys-Leu-Gly-Ser-Ile-Asp-Val-(Asp, 3-methylhistidine, Gln). Comparison of the homologous MHC sequences shows two positions at which MHC from dystrophic chicks differs from that of the White Leghorn chicks *(Glu----Gln and Met----Ile). Thus, both the peptide map and sequence analyses demonstrate that in avian muscular dystrophy an abnormal pectoralis MHC is synthesized. It is not yet clear whether the "dystrophic" MHC is a variant MHC or if it arises from the abnormal expression of an earlier developmental form (embryonic or neonatal) of pectoralis muscle MHC.
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PMID:Structure of myosin heavy chain in avian muscular dystrophy. 399 78

Dystrophin gene deletions account for up to 68% of all Duchenne (DMD) and Becker (BMD) muscular dystrophy mutations. In affected males, these deletions can be detected easily using multiplex PCR tests which monitor for exon presence. In addition, quantitative dosage screening can discriminate female carriers. We previously analyzed multiplex PCR products by gel electrophoresis and quantitation of fluorescently labeled primers with the Gene Scanner in order to test carrier status. These multiplex PCR protocols detect DMD gene deletions adequately, but require up to 18 pairs of fluorochrome-labeled primers. We previously described two alternative fluorescent labeling strategies, each with approximately 1,000-fold greater sensitivity than ethidium bromide staining, which can be used to quantify the products of multiplex PCR. The first method uses the DNA intercalating thiazole orange dye TOTO-1 to stain PCR products after 20 cycles. In the second method, fluorescein-12,2'-dUTP is incorporated into products during PCR as a fluorescent tag for subsequent quantitative dosage studies. Both methods label all multiplexed exons including the 506 bp exon 48 fragment that is difficult to detect and quantify by standard ethidium bromide staining. Using this approach, we determined DMD/BMD carrier status in 24 unrelated families using a fluorescent fragment analyzer. Analysis of fluorochrome-labeled PCR products facilitates quantitative multiplex PCR for gene-dosage analysis.
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PMID:Duchenne/Becker muscular dystrophy carrier detection using quantitative PCR and fluorescence-based strategies. 751 Sep 32

Body hydration and extra- to intra-cellular water ratio (ECW: ICW) have been studied in 12 duchenne muscular dystrophy (DMD) patients and 15 healthy controls. Subjects underwent total body water (TBW) and extracellular water (ECW) assessment by deuterium and bromide dilution, respectively. Multifrequency bioelectric impedance analysis (MFBIA) was performed on all subjects with the aim to establish its accuracy in predicting TBW and ECW in DMD. Body hydration was lower (51.8 +/- 2.8 vs 58.5 +/- 5.9%, P < 0.01) and the ECW: ICW ratio higher (1.15 +/- 0.25 vs 0.70 +/- 0.23, P < 0.001) in DMD than in control subjects. Hence, control-generated formulae for predicting TBW and ECW from MFBIA gave inaccurate results in DMD subjects. Population-specific formulae were developed to obtain an accurate prediction of body water compartments in DMD patients.
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PMID:Multifrequency bioelectric impedance measurements for predicting body water compartments in duchenne muscular dystrophy. 884 19

Children with Duchenne's muscular dystrophy should not be exposed to succinylcholine because of the risk of hyperkalemic cardiac arrest and rhabdomyolysis. This report describes the response to rapacuronium bromide in two patients with Duchenne's muscular dystrophy. Both patients had a recovery index 2 times longer than that reported in children with normal neuromuscular function.
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PMID:Rapacuronium administration to two children with Duchenne's muscular dystrophy. 1086 81

Muscular dystrophy requires cautious administration of muscle relaxants due to variable sensitivity and prolonged effects. A 43-year-old man with muscular dystrophy was scheduled for open reduction and internal fixation under general anesthesia. Following patient's TOF ratio with the muscle relaxation monitor, 80 minutes after rocuronium bromide (Rb) administration, we found that TOF ratio was over 0.9. We used sugammadex 4 mg x kg(-1) to reverse Rb-induced neuromuscular block, and then extubated. There was no clinical adverse effect on his muscular function and no respiratory distress after the use of sugammadex in the postoperative phase. Reversal of Rb-induced neuromuscular block by sugammadex in a patient with muscular dystrophy is efficient and safe.
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PMID:[Successful use of sugammadex in a muscular dystrophy patient]. 2211 67

Duchenne's muscular dystrophy (DMD) is the most common and severe form of myopathy. Patients with DMD are more sensitive to sedative, anesthetic, and neuromuscular blocking agents which may result in intraoperative and early postoperative cardiovascular and respiratory complications, as well as prolonged recovery from anesthesia. In this case report, we describe a 25-year-old male patient admitted for cholecystectomy under general anesthesia. We induced our anesthesia by oxygen, propofol, fentanyl, and rocuronium bromide. Maintenance was done by fentanyl, rocuronium bromide, sevoflurane, and O2. We report in this case the safety use of sugammadex to antagonize the neuromuscular block and rapid recovery in such category of patients.
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PMID:Sugammadex and reversal of neuromuscular block in adult patient with duchenne muscular dystrophy. 2471 88