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1.
Artigo em Inglês | MEDLINE | ID: mdl-34348541

RESUMO

Background: Although noninvasive ventilation (NIV) improves survival and quality of life (QOL) in ALS, use of NIV is suboptimal. Objective: To determine compliance with "early" NIV initiation, requisite for the feasibility of a large study of early NIV initiation, and examine factors impacting compliance. Methods: Seventy-three ALS participants with forced vital capacities (FVC) >50% were enrolled. Participants with FVC over 80% (Group 1) were initiated on NIV early (FVC between 80 and 85%). Participants with FVC between 50 and 80% (Group 2) started NIV at FVC between 50 and 55%. Symptom surveys, QOL scores, and NIV compliance (machine download documenting use ≥4 hours/night >60% of time) were collected following NIV initiation. Results: 53.6% of Group 1 and 50% of Group 2 were compliant 28 days following NIV initiation, with increased compliance over time. Participants who were unmarried, had lower income, lower educational attainment, or limited caregiver availability were less likely to be compliant. Bothersome symptoms in non-compliant participants included facial air pressure, frequent arousals with difficulty returning to sleep, and claustrophobia. Both compliant and noncompliant participants felt improved QOL with NIV; improvement was significantly greater in compliant participants. Conclusions: These data suggest ALS patients can comply with NIV early in their disease, and potentially benefit as evidenced by improved QOL scores, supporting both feasibility and need for a study comparing early versus late NIV initiation. Moreover, modifiable symptoms were identified that could be optimized to improve compliance. Further studies are needed to determine the impact of "early" intervention on survival and QOL.


Assuntos
Esclerose Amiotrófica Lateral , Ventilação não Invasiva , Insuficiência Respiratória , Esclerose Amiotrófica Lateral/terapia , Humanos , Cooperação do Paciente , Qualidade de Vida , Insuficiência Respiratória/etiologia , Insuficiência Respiratória/terapia , Capacidade Vital
2.
Neurology ; 67(9): 1659-64, 2006 Nov 14.
Artigo em Inglês | MEDLINE | ID: mdl-17101900

RESUMO

BACKGROUND: There is no generally accepted instrument for measuring quality of life (QOL) in patients with ALS. Current instruments are either too heavily weighted toward strength and physical function or useful for the evaluation of individuals but of less utility in assessing large samples. OBJECTIVE: To develop and evaluate the psychometric properties of an ALS-specific QOL instrument (the ALSSQOL) that would reflect overall QOL as assessed by the patient and would be valid and reliable across large samples. METHODS: The ALSSQOL is based on the McGill Quality of Life Questionnaire (MQOL), modified by changes in format and by adding questions on religiousness and spirituality, items derived from interviews with ALS patients, and items identified from open-ended questions administered during the MQOL. The psychometric properties of the ALSSQOL were assessed by a prospective multicenter study in which participants completed the ALSSQOL, other instruments measuring overall QOL, and instruments assessing religiousness, spirituality, and psychological distress. RESULTS: A 59-item ALSSQOL was developed; 342 patients evaluated its psychometric properties. Completion time averaged 15 minutes. Forty-six items loaded on six factors. The ALSSQOL demonstrated concurrent, convergent, and discriminant validity for the overall instrument and convergent validity for its subscales. Analysis of individual items permitted insight into variables of clinical importance. CONCLUSIONS: This new ALS-specific quality of life instrument is a practical tool for the assessment of overall quality of life in individuals with ALS and appears to be valid and useful across large samples. Validation studies of a shortened version are now under way.


Assuntos
Esclerose Amiotrófica Lateral/diagnóstico , Esclerose Amiotrófica Lateral/psicologia , Avaliação da Deficiência , Transtornos Mentais/diagnóstico , Qualidade de Vida/psicologia , Inquéritos e Questionários/normas , Transtornos de Adaptação/diagnóstico , Transtornos de Adaptação/etiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Esclerose Amiotrófica Lateral/fisiopatologia , Ansiedade/diagnóstico , Ansiedade/etiologia , Progressão da Doença , Feminino , Humanos , Masculino , Casamento , Transtornos Mentais/etiologia , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Apoio Social , Estresse Psicológico/diagnóstico , Estresse Psicológico/etiologia
3.
J Neurol Sci ; 236(1-2): 1-7, 2005 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-16024047

RESUMO

Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disorder. While most cases of ALS are sporadic, 10-15% are familial, and of these 15-20% possess a mutation in the gene that codes for the enzyme Cu/Zn superoxide dismutase (SOD1). In families of ALS patients with specific SOD1 mutations, affected members demonstrate significant heterogeneity of disease and a large variation in age of onset and severity, suggesting that there are genetic modifiers of disease expression. Transgenic mice expressing mutant forms of SOD1 demonstrate symptoms similar to those seen in patients with ALS. We have observed in our colony of G93A SOD1 transgenic mice a milder phenotype in mice in a C57BL/6J background than the C57BL/6JxSJL/J hybrid background used by Jackson Laboratories to maintain their colony. To investigate the effect of genetic background on phenotype, we have constructed congenic lines on two genetic backgrounds, C57BL/6J (B6) and SJL/J (SJL). We report the influence of background and gender on the survival of these congenic lines compared to the hybrid C57BL/6JxSJL/J background. The mean survival of G93A SOD1 mice in the hybrid B6/SJL background was 130 days, with females surviving significantly longer than males. When compared to the hybrid B6/SJL background, the survival of mice in the SJL background significantly decreased, and the gender difference in survival was maintained. On the other hand, mean survival in the B6 background significantly increased, and in contrast to the B6/SJL and SJL backgrounds, there was no difference in survival between males and females. Transgene copy numbers were verified in all animals to ensure that any phenotypic differences observed were not due to alterations in copy number. This is the first report of a shortened lifespan when the G93A SOD1 transgene is placed on the SJL/J background and an increased survival with the loss of gender influences when the transgene is placed on the C57BL/6J background.


Assuntos
Esclerose Amiotrófica Lateral/genética , Esclerose Amiotrófica Lateral/mortalidade , Modelos Animais de Doenças , Caracteres Sexuais , Fatores Etários , Animais , Genótipo , Humanos , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Transgênicos , Superóxido Dismutase/genética , Sobrevida
4.
Neurology ; 61(4): 456-64, 2003 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-12939417

RESUMO

OBJECTIVE: To determine if long-term topiramate therapy is safe and slows disease progression in patients with ALS. METHODS: A double-blind, placebo-controlled, multicenter randomized clinical trial was conducted. Participants with ALS (n = 296) were randomized (2:1) to receive topiramate (maximum tolerated dose up to 800 mg/day) or placebo for 12 months. The primary outcome measure was the rate of change in upper extremity motor function as measured by the maximum voluntary isometric contraction (MVIC) strength of eight arm muscle groups. Secondary endpoints included safety and the rate of decline of forced vital capacity (FVC), grip strength, ALS functional rating scale (ALSFRS), and survival. RESULTS: Patients treated with topiramate showed a faster decrease in arm strength (33.3%) during 12 months (0.0997 vs 0.0748 unit decline/month, p = 0.012). Topiramate did not significantly alter the decline in FVC and ALSFRS or affect survival. Topiramate was associated with an increased frequency of anorexia, depression, diarrhea, ecchymosis, nausea, kidney calculus, paresthesia, taste perversion, thinking abnormalities, weight loss, and abnormal blood clotting (pulmonary embolism and deep venous thrombosis). CONCLUSIONS: At the dose studied, topiramate did not have a beneficial effect for patients with ALS. High-dose topiramate treatment was associated with a faster rate of decline in muscle strength as measured by MVIC and with an increased risk for several adverse events in patients with ALS. Given the lack of efficacy and large number of adverse effects, further studies of topiramate at a dose of 800 mg or maximum tolerated dose up to 800 mg/day are not warranted.


Assuntos
Esclerose Amiotrófica Lateral/tratamento farmacológico , Frutose/análogos & derivados , Frutose/uso terapêutico , Adulto , Idoso , Esclerose Amiotrófica Lateral/mortalidade , Progressão da Doença , Método Duplo-Cego , Feminino , Frutose/efeitos adversos , Frutose/farmacologia , Força da Mão , Humanos , Tábuas de Vida , Masculino , Pessoa de Meia-Idade , Contração Muscular/efeitos dos fármacos , Modelos de Riscos Proporcionais , Segurança , Análise de Sobrevida , Tromboembolia/induzido quimicamente , Topiramato , Falha de Tratamento , Capacidade Vital/efeitos dos fármacos
5.
Muscle Nerve ; 23(11): 1736-47, 2000 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-11054753

RESUMO

Paramyotonia congenita (PC) is an autosomal-dominant disorder due to a point mutation in the adult skeletal muscle Na channel gene. Muscle fibers from PC patients have normal membrane properties at 32 degrees C. At 27 degrees C, they are inexcitable, have increased Na conductance, and have a reduced resting membrane potential of -40 mV. To define the biophysical basis for the muscle membrane abnormalities, we performed patch clamp whole-cell and outside-out single Na channel studies at 22 degrees C on cultured human muscle cells from 4 control patients and 2 sisters with PC and the thr1313met mutant Na channel. The whole-cell studies showed no difference in window currents. Unlike cells transfected with the thr1313met mutant Na channel, the inactivation time constant, tau(h), for PC cells was similar to control cells. For PC recordings containing long-duration single Na channel openings, mean open time was prolonged at -60, -40, and -20 mV. The long-duration Na channel openings occurred randomly with no evidence of modal gating. The number of channel openings, occurrence of late openings, and the prolonged mean open time resulted in a sustained inward Na current at -40 mV. We suggest that the biophysical marker of the thr1313met mutant Na channel is a voltage- and temperature-dependent abnormality in mutant single Na channel behavior.


Assuntos
Transtornos Miotônicos/genética , Transtornos Miotônicos/fisiopatologia , Mutação Puntual , Canais de Sódio/genética , Canais de Sódio/metabolismo , Adulto , Células Cultivadas , Feminino , Humanos , Ativação do Canal Iônico/fisiologia , Metionina/genética , Fibras Musculares Esqueléticas/química , Fibras Musculares Esqueléticas/citologia , Fibras Musculares Esqueléticas/fisiologia , Músculo Esquelético/química , Músculo Esquelético/citologia , Núcleo Familiar , Técnicas de Patch-Clamp , Treonina/genética
6.
J Neurochem ; 74(4): 1666-73, 2000 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-10737625

RESUMO

Transgenic mice expressing a mutated (G93A) human Cu/Zn superoxide dismutase (SOD1) develop motor neuron pathology and clinical symptoms similar to those seen in patients with amyotrophic lateral sclerosis. Loss of motor neurons is most prominent in lumbar, followed by cervical cord and then brainstem. No significant cell death has been reported in motor cortex. The integrity of the cortical glutamate reuptake systems was evaluated using intracerebral microdialysis and western immunoblot assays for the glutamate transporters GLT-1, GLAST, and EAAC1. The basal extracellular fluid levels of aspartate, glutamate, glutamine, 3,4-dihydroxyphenylacetic acid, and 5-hydroxyindole-3-acetic acid were evaluated by HPLC. The extraction fraction of L-3H]glutamate, corrected with [14C]mannitol, was also evaluated. GLT-1, EAAC1, and GLAST protein levels were determined by semiquantitative chemiluminescence immunoblot of proteins from membrane-enriched fractions. The relative optical density of film was translated into relative protein level by comparison with a standard control mouse. The SOD1 mutant mice demonstrated a significant (p < 0.05) increase in basal levels of extracellular aspartate and glutamate. In addition, when the glutamate extraction fraction was challenged with exogenous unlabeled glutamate (500 microM) by reversed microdialysis, the glutamate extraction fraction in the mutant SOD1 mice was decreased significantly from control levels. The SOD1 mutant mice demonstrated no difference in the cortical protein levels of the glutamate transporter subtypes. This study demonstrates that in areas of no visible pathology and no loss of glutamate transporter proteins, SOD1 mutant mice have elevated extracellular fluid aspartate and glutamate levels and a decreased capacity to clear glutamate from the extracellular space.


Assuntos
Córtex Cerebral/enzimologia , Ácido Glutâmico/metabolismo , Superóxido Dismutase/genética , Ácido 3,4-Di-Hidroxifenilacético/metabolismo , Transportadores de Cassetes de Ligação de ATP/análise , Sistema X-AG de Transporte de Aminoácidos , Esclerose Amiotrófica Lateral/metabolismo , Animais , Ácido Aspártico/metabolismo , Córtex Cerebral/química , Espaço Extracelular/metabolismo , Regulação Enzimológica da Expressão Gênica , Humanos , Ácido Hidroxi-Indolacético/metabolismo , Camundongos , Camundongos Mutantes Neurológicos , Camundongos Transgênicos , Microdiálise , Fenótipo
7.
Muscle Nerve ; 20(10): 1219-24, 1997 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-9324076

RESUMO

We present a family with severe exercise intolerance, progressive proximal weakness, and lactic acidemia. Fifteen of 24 family members in five generations were affected. Since the affected males do not have offspring at this time, the family pedigree is consistent with either maternal or autosomal dominant inheritance. Muscle histochemistry showed ragged-red fibers and electron microscopy showed globular mitochondrial inclusions. Biochemical analysis showed reduced muscle activities of mitochondrial NADH-cytochrome c reductase (1 of 2 patients), succinate-cytochrome c reductase (2 patients), and cytochrome c oxidase (2 patients). For 1 patient, sequence analysis of 44% of the muscle mitochondrial DNA including all 22 transfer RNA regions showed no point mutation with pathogenic significance. Southern blot analysis showed no deletion. Six affected members of the family were treated with methylprednisolone (0.25 mg/kg) for 3 months. Muscle strength, serum lactate, and energy metabolism at rest (measured by 31P magnetic resonance spectroscopy) significantly improved with treatment.


Assuntos
Rearranjo Gênico , Miopatias Mitocondriais/genética , Miopatias Mitocondriais/metabolismo , Adolescente , Adulto , Criança , Pré-Escolar , DNA Mitocondrial/genética , Feminino , Glucocorticoides/uso terapêutico , Humanos , Masculino , Metilprednisolona/uso terapêutico , Microscopia Eletrônica , Pessoa de Meia-Idade , Miopatias Mitocondriais/patologia , Músculos/enzimologia , Músculos/patologia , Mutação , Linhagem , Polimorfismo Genético
8.
Med Clin North Am ; 77(2): 477-92, 1993 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-8095087

RESUMO

Neuroleptic malignant syndrome and malignant hyperthermia share two cardinal clinical features: hypothermia and rigidity. Both syndromes can result in rhabdomyolysis and have high mortality rates if left untreated. This article reviews each syndrome and its pathogenesis and treatment.


Assuntos
Hipertermia Maligna , Síndrome Maligna Neuroléptica , Dantroleno/uso terapêutico , Diagnóstico Diferencial , Dopaminérgicos/uso terapêutico , Humanos , Hipertermia Maligna/diagnóstico , Hipertermia Maligna/tratamento farmacológico , Hipertermia Maligna/etiologia , Síndrome Maligna Neuroléptica/diagnóstico , Síndrome Maligna Neuroléptica/tratamento farmacológico , Síndrome Maligna Neuroléptica/etiologia , Encaminhamento e Consulta
9.
Adv Exp Med Biol ; 311: 329-31, 1992.
Artigo em Inglês | MEDLINE | ID: mdl-1326861

RESUMO

Ca(2+)- and halothane-induced Ca(2+) release and Na+ currents are modulated by free fatty acids (FAs). FA modulation of ion currents may have important implications for general muscle physiology and skeletal muscle disorders, including malignant hyperthermia (MH).


Assuntos
Cálcio/metabolismo , Halotano/farmacologia , Ácidos Linolênicos/metabolismo , Hipertermia Maligna/metabolismo , Músculos/fisiologia , Ácidos Oleicos/farmacologia , Canais de Sódio/fisiologia , Cálcio/farmacologia , Células Cultivadas , Humanos , Isoproterenol/farmacologia , Contração Muscular/efeitos dos fármacos , Músculos/efeitos dos fármacos , Músculos/metabolismo , Ácido Oleico , Canais de Sódio/efeitos dos fármacos
10.
Electromyogr Clin Neurophysiol ; 31(8): 491-6, 1991 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-1797545

RESUMO

Since the relationships between traditional assessments in ALS patients have not been defined, three clinical and four electrophysiological assessments were performed in a cross-sectional study of 87 ALS patients. The clinical assessments produced Norris ALS scores, muscle strength scores and illness durations (DUR). The electrophysiological assessments produced scores for motor unit interference pattern, denervation potentials, compound muscle action potential, and fasciculations. The individual muscle scores were averaged to produce mean scores, and Spearman rank correlations were performed on the mean scores. The association between Norris ALS and mean muscle strength (MMS) scores is significant (p less than .001, rs = 0.84), and these scores are significantly correlated with mean interference pattern (0.77, 0.82), mean denervation potential (-0.63, -0.70), and mean compound muscle action potential scores (0.55, 0.60), respectively. Correlations between IP and DP scores (-0.71), IP and CMAP scores (0.62), and DP and CMAP (-0.56) scores are also significant. Scatterplots of the data and regression lines suggest linear relationships between each of these assessments. Illness duration and fasciculation scores are not strongly correlated (rs less than 0.55) with any of the other clinical or electrophysiological assessments.


Assuntos
Esclerose Amiotrófica Lateral/fisiopatologia , Braço , Perna (Membro) , Músculos/fisiopatologia , Esclerose Amiotrófica Lateral/diagnóstico , Fenômenos Biomecânicos , Estudos Transversais , Eletrofisiologia , Potenciais Evocados , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Condução Nervosa
12.
Neurology ; 41(7): 1021-4, 1991 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-1648679

RESUMO

We report nine patients with muscle aching, cramps, stiffness, exercise intolerance, and peripheral nerve hyperexcitability. Neurologic examination showed calf fasciculations in seven, quadriceps myokymia in two, and deltoid myokymia in one patient. Two patients had mild increase in serum creatine kinase. Muscle biopsy showed either no abnormality (three patients) or mild neurogenic changes (four patients). Fasciculations were the only abnormality on routine electrodiagnostic studies. Supramaximal stimulation of the median, ulnar, peroneal, and posterior tibial nerves at frequencies of 0.5, 1, 2, and 5 Hz produced showers of electrical potentials following the M response in at least one nerve. In three patients, the fasciculations and evoked electrical potentials were abolished by regional application of curare but not nerve block. Carbamazepine therapy caused moderate-to-marked reduction of symptoms and nerve hyperexcitability. We designate this hyperexcitable peripheral nerve disorder as the "cramp-fasciculation syndrome."


Assuntos
Fasciculação , Cãibra Muscular , Doenças do Sistema Nervoso Periférico , Carbamazepina/uso terapêutico , Eletrodiagnóstico , Fasciculação/diagnóstico , Fasciculação/tratamento farmacológico , Fasciculação/patologia , Seguimentos , Humanos , Cãibra Muscular/diagnóstico , Cãibra Muscular/tratamento farmacológico , Cãibra Muscular/patologia , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/tratamento farmacológico , Doenças do Sistema Nervoso Periférico/patologia , Síndrome
13.
Neurology ; 41(6): 919-21, 1991 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-2046940

RESUMO

We reviewed retrospectively 114 prednisone dose reduction attempts in 63 myasthenic patients. Dose reduction was considered successful if a patient remained asymptomatic for more than 1 year on no prednisone or a stable low dose of prednisone. Successful dose reduction attempts were more common in patients taking azathioprine, but thymectomy did not influence taper outcome. Slower rate of dose reduction and higher ending dose of prednisone improved the chance of success.


Assuntos
Miastenia Gravis/tratamento farmacológico , Prednisona/administração & dosagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Esquema de Medicação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos
14.
Ann Neurol ; 28(4): 522-8, 1990 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-2174666

RESUMO

In 1989, the Centers for Disease Control recognized the existence of an epidemic illness characterized by myalgia and eosinophilia in individuals taking preparations containing L-tryptophan. We evaluated 3 patients with eosinophilia-myalgia syndrome who presented with subacute progressive neuropathies. The neuropathies were predominantly motor and maximal in the lower extremities. Two patients were confined to a wheelchair and one was ventilator-dependent and bedridden. Sensory loss predominantly involved small fiber modalities. Electrophysiological studies showed multifocal marked conduction slowing and conduction block indicating segmental demyelination, with associated axonal degeneration that was accentuated distally. Examination of sural nerve biopsy specimens demonstrated axonal degeneration in all 3 patients and perivascular infiltrates in 2. Levels of quinolinic acid, a neurotoxic metabolite of L-tryptophan, were elevated in the cerebrospinal fluid in the 2 patients in whom it was measured. The cause of the neuropathy is unknown but may include immune mechanisms or toxicity of eosinophils, L-tryptophan, its metabolic products, or contaminants within L-tryptophan preparations.


Assuntos
Doenças Desmielinizantes/induzido quimicamente , Eosinofilia/induzido quimicamente , Doenças Musculares/induzido quimicamente , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Ácidos Quinolínicos/líquido cefalorraquidiano , Triptofano , Adulto , Biópsia , Doenças Desmielinizantes/líquido cefalorraquidiano , Doenças Desmielinizantes/patologia , Contaminação de Medicamentos , Eosinofilia/líquido cefalorraquidiano , Feminino , Humanos , Pessoa de Meia-Idade , Músculos/patologia , Doenças Musculares/líquido cefalorraquidiano , Degeneração Neural , Doenças do Sistema Nervoso Periférico/líquido cefalorraquidiano , Doenças do Sistema Nervoso Periférico/patologia , Ácido Quinolínico , Nervo Sural/patologia , Síndrome , Triptofano/farmacocinética
17.
Muscle Nerve ; 11(5): 453-7, 1988 May.
Artigo em Inglês | MEDLINE | ID: mdl-3374516

RESUMO

The association of malignant hyperthermia (MH) with neuromuscular disorders has been recognized since 1970. These disorders include central core disease, Duchenne muscular dystrophy, myotonia congenita, myotonic dystrophy, nonspecific myopathies, and King-Denborough syndrome. In order to assess the anesthetic risk of MH in the neuromuscular population, we performed halothane and caffeine contracture testing for MH susceptibility on biopsied muscle removed from 25 consecutive neuromuscular patients during diagnostic evaluation. Positive contracture tests were found in 7 of 18 patients with myopathic disorders and 3 of 7 patients with neurogenic disorders. Two of our patients had anesthetic events suggesting MH. These findings suggest that myopathic and neuropathic disorders share pathogenic mechanisms with MH, resulting in positive contracture tests and possibly leading to clinical events during anesthesia. Although there is controversy regarding the interpretation of a positive contracture test, contracture testing remains the most widely accepted test for MH susceptibility. Thus, a variety of neuromuscular disorders may be associated with MH susceptibility, and caution should be exercised during anesthesia in this group of patients.


Assuntos
Cafeína/farmacologia , Halotano/farmacologia , Hipertermia Maligna/diagnóstico , Contração Muscular/efeitos dos fármacos , Músculos/efeitos dos fármacos , Doenças Neuromusculares/diagnóstico , Biópsia , Humanos , Músculos/patologia , Fatores de Risco
18.
Anesthesiology ; 67(1): 20-5, 1987 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-3605730

RESUMO

The relationship between neuroleptic malignant syndrome (NMS) and malignant hyperthermia (MH) was investigated using the in vitro skeletal muscle contracture test to screen for MH-susceptibility in NMS patients. The maximum contracture tension which developed following exposure to halothane (1-3%), and incremental doses of fluphenazine (0.2-25.6 mM) was measured in muscle obtained from seven NMS, six MH, and six control patients. Comparison of the cumulative responses to fluphenazine revealed no significant differences among the groups. However, the response (mean +/- SEM) to halothane in the NMS group (1.7 +/- 0.7 g), which was similar to the response in the MH group (1.5 +/- 0.2 g), was significantly greater than the response found in controls (0.2 +/- 0.1 g). In addition, five of seven NMS patients could be diagnosed as MH-susceptible, based on the development of muscle contractures greater than 0.7 g in response to 1-3% halothane. In contrast, none of the controls were MH-susceptible. These findings appear to correlate with clinical evidence suggesting an association between NMS and MH.


Assuntos
Hipertermia Maligna/complicações , Síndrome Maligna Neuroléptica/complicações , Adulto , Suscetibilidade a Doenças , Feminino , Flufenazina , Halotano , Humanos , Masculino , Pessoa de Meia-Idade
19.
Pediatr Neurol ; 2(6): 356-8, 1986.
Artigo em Inglês | MEDLINE | ID: mdl-3508709

RESUMO

To evaluate malignant hyperthermia (MH) susceptibility in X-linked muscular dystrophies, halothane and caffeine contracture tests were performed on muscle fiber bundles from five patients with Duchenne muscular dystrophy (DMD) and two patients with Becker muscular dystrophy (BMD). Two DMD patients and one BMD patient had positive contracture tests. Since a positive contracture test is currently the best indicator of anesthetic susceptibility in the MH population, and episodes of MH in dystrophic patients have been reported, patients with DMD and BMD may be at risk for developing similar anesthetic complications. Awareness of this potential anesthetic risk is of importance because orthopedic interventions are increasingly more common in these patients.


Assuntos
Ligação Genética , Distrofias Musculares/genética , Aberrações dos Cromossomos Sexuais/genética , Cromossomo X , Adolescente , Cafeína , Criança , Halotano , Humanos , Contração Muscular/efeitos dos fármacos
20.
Pediatr Neurol ; 2(3): 175-7, 1986.
Artigo em Inglês | MEDLINE | ID: mdl-2907859

RESUMO

The King-Denborough syndrome (KDS) is characterized by dysmorphic features, myopathy, and malignant hyperthermia (MH). Physiologic contracture testing for MH susceptibility has not been reported in KDS. A young boy with KDS underwent muscle biopsy evaluation at age 3 years that documented an abnormal contracture response to halothane, indicating MH susceptibility. Histopathology demonstrated small type II fibers associated with type I hypertrophy. Contracture testing of muscle obtained from the patient's mother was positive, while a sibling's test was negative. This case is the first to demonstrate susceptibility to MH with KDS by using physiologic contracture testing. The presence of positive MH results in both the patient and his mother suggest one of the following: (1) KDS may be part of the spectrum of autosomal dominantly inherited MH; (2) the locus for MH and for KDS may be linked closely and inherited concurrently, or; (3) the association of MH and KDS may be coincidental.


Assuntos
Contratura/induzido quimicamente , Criptorquidismo/cirurgia , Halotano , Hipertermia Maligna/diagnóstico , Pré-Escolar , Humanos , Masculino , Hipertermia Maligna/genética , Síndrome
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