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  1 / 1850 MEDLINE  
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[PMID]:28662944
[Au] Autor:Matthews E; Silwal A; Sud R; Hanna MG; Manzur AY; Muntoni F; Munot P
[Ad] Endereço:Medical Research Council Center for Neuromuscular Diseases, University College London and National Hospital for Neurology and Neurosurgery, London, UK. Electronic address: emma.matthews@ucl.ac.uk.
[Ti] Título:Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.
[So] Source:J Pediatr;188:181-185.e6, 2017 Sep.
[Is] ISSN:1097-6833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To ascertain the presenting symptoms of children with skeletal muscle channelopathies to promote early diagnosis and treatment. STUDY DESIGN: Retrospective case review of 38 children with a skeletal muscle channelopathy attending the specialist pediatric neuromuscular service at Great Ormond Street Hospital over a 15-year period. RESULTS: Gait disorder and leg cramps are a frequent presentation of myotonic disorders (19 of 29). Strabismus or extraocular myotonia (9 of 19) and respiratory and/or bulbar symptoms (11 of 19) are common among those with sodium channelopathy. Neonatal hypotonia was observed in periodic paralysis. Scoliosis and/or contractures were demonstrated in 6 of 38 children. School attendance or ability to engage fully in all activities was often limited (25 of 38). CONCLUSIONS: Children with skeletal muscle channelopathies frequently display symptoms that are uncommon in adult disease. Any child presenting with abnormal gait, leg cramps, or strabismus, especially if intermittent, should prompt examination for myotonia. Those with sodium channel disease should be monitored for respiratory or bulbar complications. Neonatal hypotonia can herald periodic paralysis. Early diagnosis is essential for children to reach their full educational potential.
[Mh] Termos MeSH primário: Canalopatias/complicações
Transtornos Miotônicos/diagnóstico
Canais de Sódio/genética
[Mh] Termos MeSH secundário: Absenteísmo
Adolescente
Obstrução das Vias Respiratórias
Canalopatias/diagnóstico
Criança
Pré-Escolar
Contratura/etiologia
Diplopia/etiologia
Feminino
Transtornos Neurológicos da Marcha
Seres Humanos
Lactente
Recém-Nascido
Masculino
Cãibra Muscular/etiologia
Hipotonia Muscular/etiologia
Transtornos Miotônicos/genética
Canal de Sódio Disparado por Voltagem NAV1.4/genética
Sons Respiratórios/etiologia
Estudos Retrospectivos
Escoliose/etiologia
Estrabismo/etiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NAV1.4 Voltage-Gated Sodium Channel); 0 (SCN4A protein, human); 0 (Sodium Channels)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170701
[St] Status:MEDLINE


  2 / 1850 MEDLINE  
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[PMID]:28492890
[Au] Autor:Fardet L; Nazareth I; Petersen I
[Ad] Endereço:EA 7379 EpiDermE, Université Paris Est Créteil, Créteil, France.
[Ti] Título:Association Between Long-term Quinine Exposure and All-Cause Mortality.
[So] Source:JAMA;317(18):1907-1909, 2017 05 09.
[Is] ISSN:1538-3598
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Mortalidade
Cãibra Muscular/tratamento farmacológico
Quinina/efeitos adversos
[Mh] Termos MeSH secundário: Fatores Etários
Idoso
Causas de Morte
Feminino
Seguimentos
Parada Cardíaca/epidemiologia
Seres Humanos
Masculino
Meia-Idade
Quinina/administração & dosagem
Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
A7V27PHC7A (Quinine)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170717
[Lr] Data última revisão:
170717
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170512
[St] Status:MEDLINE
[do] DOI:10.1001/jama.2017.2332


  3 / 1850 MEDLINE  
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[PMID]:28289867
[Au] Autor:Galeotti L; Ceccherini F; Domingo D; Laurino M; Polillo M; Di Paolo A; Baratè C; Fava C; D'Avolio A; Cervetti G; Guerrini F; Fontanelli G; Ciabatti E; Grassi S; Arrigoni E; Danesi R; Petrini M; Cornolti F; Saglio G; Galimberti S
[Ad] Endereço:Phymtech Srl, Via Giuntini 63, Navacchio, 56023, Pisa, Italy.
[Ti] Título:Association of the hOCT1/ABCB1 genotype with efficacy and tolerability of imatinib in patients affected by chronic myeloid leukemia.
[So] Source:Cancer Chemother Pharmacol;79(4):767-773, 2017 Apr.
[Is] ISSN:1432-0843
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:PURPOSE: The present study was aimed at investigating whether imatinib pharmacogenetics is related to its pharmacodynamics in patients affected by chronic myeloid leukemia. METHODS: Through a procedure based on a sequence of classical statistics methods, we investigated the possible relationships between treatment efficacy/tolerability and combinations of time-independent variables as gender and genetic covariates in the form of single nucleotide polymorphisms (SNPs) or combinations thereof. Moreover, since the drug tolerability has a strong incidence on the discontinuation of the therapy, we investigated whether the time of manifestation of the most frequent toxic effects can be related to time-independent patients' characteristics or not. RESULTS: We found that a combination of two polymorphisms, namely hOCT1 c.480C>G (rs683369) and ABCB1 c.3435C>T (rs1045642), seems to play the role of predictor for imatinib in both efficacy and toxicity. Furthermore, the time of manifestation of edema toxicity is found to be associated to a combination of gender and ABCB1 c.3435C>T, whereas the time of manifestation of cramp toxicity appears related to gender. CONCLUSIONS: The novelty of this study is dual: the achievement of results that potentially have a significant clinical interest and the demonstration that the adoption of composed covariates may represent a unique tool to study different aspects of the treatment with imatinib.
[Mh] Termos MeSH primário: Antineoplásicos/efeitos adversos
Antineoplásicos/uso terapêutico
Mesilato de Imatinib/efeitos adversos
Mesilato de Imatinib/uso terapêutico
Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico
Leucemia Mielogênica Crônica BCR-ABL Positiva/genética
Fator 1 de Transcrição de Octâmero/genética
[Mh] Termos MeSH secundário: Subfamília B de Transportador de Cassetes de Ligação de ATP/genética
Adulto
Idoso
Idoso de 80 Anos ou mais
Edema/induzido quimicamente
Edema/genética
Análise Fatorial
Feminino
Genótipo
Seres Humanos
Masculino
Meia-Idade
Cãibra Muscular/induzido quimicamente
Cãibra Muscular/genética
Farmacogenética
Polimorfismo Genético
Prognóstico
Caracteres Sexuais
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ABCB1 protein, human); 0 (ATP Binding Cassette Transporter, Sub-Family B); 0 (Antineoplastic Agents); 0 (Octamer Transcription Factor-1); 0 (POU2F1 protein, human); 8A1O1M485B (Imatinib Mesylate)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170315
[St] Status:MEDLINE
[do] DOI:10.1007/s00280-017-3271-3


  4 / 1850 MEDLINE  
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[PMID]:28261922
[Au] Autor:Ito A; Yamazaki Y; Sasano H; Matsubara D; Fukushima N; Tamba M; Tabata K; Ashizawa K; Takei A; Koizumi M; Sakuma Y; Sata N; Oshiro H
[Ad] Endereço:Department of Diagnostic Pathology, Jichi Medical University Hospital, Shimotsuke, Japan.
[Ti] Título:A case of primary aldosteronism caused by unilateral multiple adrenocortical micronodules presenting as muscle cramps at rest: The importance of functional histopathology for identifying a culprit lesion.
[So] Source:Pathol Int;67(4):214-221, 2017 Apr.
[Is] ISSN:1440-1827
[Cp] País de publicação:Australia
[La] Idioma:eng
[Ab] Resumo:Unilateral multiple adrenocortical micronodules (UMNs) constitute a rare subset of primary aldosteronism (PA) characterized by the hypersecretion of aldosterone derived from multiple small nodules in the zona glomerulosa of the unilateral adrenal grand. This case study describes a 49-year-old man with PA and UMNs who presented with muscle cramps at rest due to hypokalemia. The patient had a 6-year history of hypertension treated with antihypertensive drugs. Imaging studies revealed bilateral adrenal nodules as large as 5 mm. Adrenal venous sampling confirmed unilateral PA; therefore, the patient underwent the removal of the affected adrenal gland. Macroscopically, the removed adrenal gland exhibited irregular adrenocortical thickening accompanied by ill-defined, adrenocortical macronodules as large as 6 mm. The zona glomerulosa was histologically hyperplastic. However, an immunohistochemistry test of the steroidogenic enzymes revealed that these macronodules and the hyperplastic glomerular layer tested negative for CYB11B2. Moreover, we observed adrenocortical micronodules as large as 0.5 mm that tested immunohistochemically positive for CYP11B2 and HSD3B2 but negative for CYP17A1 and CYP11B1. Thus, UMNs were diagnosed. This case instructively indicates that a grossly or histologically detectable nodular lesion is not necessarily a culprit lesion for PA. Therefore, functional histopathology is indispensable for the correct subclassification of PA.
[Mh] Termos MeSH primário: Glândulas Suprarrenais/patologia
Hiperaldosteronismo/patologia
Hipopotassemia/patologia
Cãibra Muscular/patologia
[Mh] Termos MeSH secundário: Adrenalectomia/métodos
Aldosterona/metabolismo
Seres Humanos
Hiperaldosteronismo/diagnóstico
Hiperplasia/diagnóstico
Hipopotassemia/diagnóstico
Imuno-Histoquímica/métodos
Masculino
Meia-Idade
Cãibra Muscular/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
4964P6T9RB (Aldosterone)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170616
[Lr] Data última revisão:
170616
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170307
[St] Status:MEDLINE
[do] DOI:10.1111/pin.12521


  5 / 1850 MEDLINE  
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[PMID]:28222455
[Au] Autor:Aldulaimi S
[Ad] Endereço:University of Arizona, Tucson, and Banner University Medical Center, Tucson, AZ, USA. Email: sommer.aldulaimi@bannerhealth.com.
[Ti] Título:Muscle cramps/pain · weakness · muscle twitching · Dx?
[So] Source:J Fam Pract;66(2):100-102, 2017 Feb.
[Is] ISSN:1533-7294
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A 39-year-old man who worked in construction presented to our clinic with complaints of muscle cramps and muscle pain that had been bothering him for several months. The cramps and pain started in both of his arms and subsequently became diffuse and generalized. He also reported an unintentional 15-pound weight loss.
[Mh] Termos MeSH primário: Esclerose Amiotrófica Lateral/diagnóstico
Esclerose Amiotrófica Lateral/tratamento farmacológico
Analgésicos/uso terapêutico
Cãibra Muscular/tratamento farmacológico
Relaxantes Musculares Centrais/uso terapêutico
Debilidade Muscular/fisiopatologia
Mialgia/tratamento farmacológico
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Esclerose Amiotrófica Lateral/epidemiologia
Seres Humanos
Masculino
Meia-Idade
Cãibra Muscular/diagnóstico
Mialgia/diagnóstico
Resultado do Tratamento
Estados Unidos/epidemiologia
[Pt] Tipo de publicação:CASE REPORTS
[Nm] Nome de substância:
0 (Analgesics); 0 (Muscle Relaxants, Central)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170619
[Lr] Data última revisão:
170619
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170222
[St] Status:MEDLINE


  6 / 1850 MEDLINE  
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[PMID]:28192854
[Au] Autor:Craighead DH; Shank SW; Gottschall JS; Passe DH; Murray B; Alexander LM; Kenney WL
[Ad] Endereço:Department of Kinesiology, Noll Laboratory, The Pennsylvania State University, University Park, Pennsylvania, 16802, USA.
[Ti] Título:Ingestion of transient receptor potential channel agonists attenuates exercise-induced muscle cramps.
[So] Source:Muscle Nerve;56(3):379-385, 2017 Sep.
[Is] ISSN:1097-4598
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Exercise-associated muscle cramping (EAMC) is a poorly understood problem that is neuromuscular in origin. Ingestion of transient receptor potential (TRP) channel agonists has been efficacious in attenuating electrically induced muscle cramps. This study examines the effect of TRP agonist ingestion on voluntarily induced EAMC and motor function. METHODS: Study 1: Thirty-nine participants completed 2 trials after ingesting TRP agonist-containing active treatment (A), or vehicle (V) control. Cramping in the triceps surae muscle was induced via voluntary isometric contraction. Study 2: After ingesting A or V, 31 participants performed kinematic and psychomotor tests of manual dexterity. RESULTS: A increased precramp contraction duration (A, 36.9 ± 4.1 s; V, 27.8 ± 3.1 s), decreased cramp EMG area under the curve (A, 37.3 ± 7.7 %EMG ·s; V, 77.2 ± 17.7 %EMG ·s), increased contraction force to produce the cramp (A, 13.8 ± 1.8 kg; V, 9.9 ± 1.6 kg), and decreased postcramp soreness (A, 4.1 ± 0.3 arbitrary units (a.u.); V, 4.7 ± 0.3 a.u.). Kinematic and psychomotor tests were not affected. DISCUSSION: TRP agonist ingestion attenuated EAMC characteristics without affecting motor function. Muscle Nerve 56: 379-385, 2017.
[Mh] Termos MeSH primário: Eletromiografia/efeitos dos fármacos
Exercício
Cãibra Muscular/tratamento farmacológico
Músculo Esquelético/efeitos dos fármacos
Proteínas do Tecido Nervoso/agonistas
Canais de Cátion TRPV/agonistas
Canais de Receptores Transientes de Potencial/agonistas
[Mh] Termos MeSH secundário: Adulto
Bebidas
Canais de Cálcio/fisiologia
Estudos Cross-Over
Método Duplo-Cego
Ingestão de Alimentos/fisiologia
Eletromiografia/métodos
Exercício/fisiologia
Feminino
Seres Humanos
Masculino
Cãibra Muscular/etiologia
Fadiga Muscular/efeitos dos fármacos
Fadiga Muscular/fisiologia
Músculo Esquelético/fisiologia
Proteínas do Tecido Nervoso/fisiologia
Canal de Cátion TRPA1
Canais de Cátion TRPV/fisiologia
Canais de Receptores Transientes de Potencial/fisiologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL
[Nm] Nome de substância:
0 (Calcium Channels); 0 (Nerve Tissue Proteins); 0 (TRPA1 Cation Channel); 0 (TRPA1 protein, human); 0 (TRPV Cation Channels); 0 (TRPV1 protein, human); 0 (Transient Receptor Potential Channels)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170214
[St] Status:MEDLINE
[do] DOI:10.1002/mus.25611


  7 / 1850 MEDLINE  
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[PMID]:28072907
[Au] Autor:Ng L; Khan F; Young CA; Galea M
[Ad] Endereço:Department of Rehabilitation Medicine, Royal Melbourne Hospital, Royal Park Campus, Poplar Road, Parkville, Melbourne, Victoria, Australia, 3052.
[Ti] Título:Symptomatic treatments for amyotrophic lateral sclerosis/motor neuron disease.
[So] Source:Cochrane Database Syst Rev;1:CD011776, 2017 01 10.
[Is] ISSN:1469-493X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Motor neuron disease (MND), which is also known as amyotrophic lateral sclerosis (ALS), causes a wide range of symptoms but the evidence base for the effectiveness of the symptomatic treatment therapies is limited. OBJECTIVES: To summarise the evidence from Cochrane Systematic Reviews of all symptomatic treatments for MND. METHODS: We searched the Cochrane Database of Systematic Reviews (CDSR) on 15 November 2016 for systematic reviews of symptomatic treatments for MND. We assessed the methodological quality of the included reviews using the Assessment of Multiple Systematic Reviews (AMSTAR) tool and the GRADE approach. We followed standard Cochrane study (review) selection and data extraction procedures. We reported findings narratively and in tables. MAIN RESULTS: We included nine Cochrane Systematic Reviews of interventions to treat symptoms in people with MND. Three were empty reviews with no included randomised controlled trials (RCTs); however, all three reported on non-RCT evidence and the remaining six included mostly one or two studies. We deemed all of the included reviews of high methodological quality. Drug therapy for painThere is no RCT evidence in a Cochrane Systematic Review exploring the efficacy of drug therapy for pain in MND. Treatment for crampsThere is evidence (13 RCTs, N = 4012) that for the treatment of cramps in MND, compared to placebo:- memantine and tetrahydrocannabinol (THC) are probably ineffective (moderate-quality evidence);- vitamin E may have little or no effect (low-quality evidence); and- the effects of L-threonine, gabapentin, xaliproden, riluzole, and baclofen are uncertain as the evidence is either very low quality or the trial specified the outcome but did not report numerical data.The review reported adverse effects of riluzole, but it is not clear whether other interventions had adverse effects. Treatment for spasticityIt is uncertain whether an endurance-based exercise programme improved spasticity or quality of life, measured at three months after the programme, as the quality of evidence is very low (1 RCT, comparison "usual activities", N = 25). The review did not evaluate other approaches, such as use of baclofen as no RCTs were available. Mechanical ventilation for supporting respiratory functionNon-invasive ventilation (NIV) probably improves median survival and quality of life in people with respiratory insufficiency and normal to moderately impaired bulbar function compared to standard care, and improves quality of life but not survival for people with poor bulbar function (1 RCT, N = 41, moderate-quality evidence; a second RCT did not provide data). The review did not evaluate other approaches such as tracheostomy-assisted ('invasive') ventilation, or assess timing of NIV initiation. Treatment for sialorrhoeaA single session of botulinum toxin type B injections to parotid and submandibular glands probably improves sialorrhoea and quality of life at up to 4 weeks compared to placebo injections, but not at 8 or 12 weeks after the injections (moderate-quality evidence from 1 placebo-controlled RCT, N = 20). The review authors found no trials of other approaches. Enteral tube feeding for supporting nutritionThere is no RCT evidence in a Cochrane Systematic Review to support benefit or harms of enteral tube feeding in supporting nutrition in MND. Repetitive transcranial magnetic stimulationIt is uncertain whether repetitive transcranial magnetic stimulation (rTMS) improves disability or limitation in activity in MND in comparison with sham rTMS (3 RCTs, very low quality evidence, N = 50). Therapeutic exerciseThere is evidence that exercise may improve disability in MND at three months after the exercise programme, but not quality of life, in comparison with "usual activities" or "usual care" including stretching (2 RCTs, low-quality evidence, N = 43). Multidisciplinary careThere is no RCT evidence in a Cochrane Systematic Review to demonstrate any benefit or harm for multidisciplinary care in MND.None of the reviews, other than the review of treatment for cramps, reported that adverse events occurred. However, the trials were too small for reliable adverse event reporting. AUTHORS' CONCLUSIONS: This overview has highlighted the lack of robust evidence in Cochrane Systematic Reviews on interventions to manage symptoms resulting from MND. It is important to recognise that clinical trials may fail to demonstrate efficacy of an intervention for reasons other than a true lack of efficacy, for example because of insufficient statistical power, the wrong choice of dose, insensitive outcome measures or inappropriate participant eligibility. The trials were mostly too small to reliably assess adverse effects of the treatments. The nature of MND makes it difficult to research clinically accepted or recommended practice, regardless of the level of evidence supporting the practice. It would not be ethical, for example, to design a placebo-controlled trial for treatment of pain in MND or to withhold multidisciplinary care where such care is available. It is therefore highly unlikely that there will ever be classically designed placebo-controlled RCTs in these areas.We need more research with appropriate study designs, robust methodology, and of sufficient duration to address the changing needs-of people with MND and their caregivers-associated with MND disease progression and mortality. There is a significant gap in studies assessing the effectiveness of interventions for symptoms relating to MND, such as pseudobulbar emotional lability and cognitive and behavioural difficulties. Future studies should use appropriate outcome measures that are reliable, have internal and external validity, and are sensitive to change in what is being measured (such as quality of life).
[Mh] Termos MeSH primário: Esclerose Amiotrófica Lateral/complicações
Cãibra Muscular/tratamento farmacológico
Espasticidade Muscular/terapia
Dor/tratamento farmacológico
Insuficiência Respiratória/terapia
Sialorreia/terapia
[Mh] Termos MeSH secundário: Nutrição Enteral
Terapia por Exercício
Seres Humanos
Doença dos Neurônios Motores/complicações
Cãibra Muscular/etiologia
Espasticidade Muscular/etiologia
Ventilação não Invasiva
Dor/etiologia
Insuficiência Respiratória/etiologia
Literatura de Revisão como Assunto
Sialorreia/etiologia
Estimulação Magnética Transcraniana
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170428
[Lr] Data última revisão:
170428
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170111
[St] Status:MEDLINE
[do] DOI:10.1002/14651858.CD011776.pub2


  8 / 1850 MEDLINE  
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[PMID]:28056338
[Au] Autor:Guiraud S; Migeon T; Ferry A; Chen Z; Ouchelouche S; Verpont MC; Sado Y; Allamand V; Ronco P; Plaisier E
[Ad] Endereço:Mixed Research Unit S1155, INSERM, Paris, France; University Pierre and Marie Curie Paris 06, Sorbonne University, Paris, France; Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy, and Genetics, University of Oxford, Oxford, United Kingdom.
[Ti] Título:HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect.
[So] Source:Am J Pathol;187(3):505-516, 2017 Mar.
[Is] ISSN:1525-2191
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Collagen IV is a major component of basement membranes (BMs). The α1(IV) chain, encoded by the COL4A1 gene, is expressed ubiquitously and associates with the α2(IV) chain to form the α1α1α2(IV) heterotrimer. Several COL4A1 mutations affecting a conformational domain containing integrin-binding sites are responsible for the systemic syndrome of hereditary angiopathy, nephropathy, aneurysms, and cramps (HANAC). To analyze the pathophysiology of HANAC, Col4a1 mutant mice bearing the p.Gly498Val mutation were generated. Analysis of the skeletal muscles of Col4a1 mutant animals showed morphologic characteristics of a muscular dystrophy phenotype with myofiber atrophy, centronucleation, focal inflammatory infiltrates, and fibrosis. Abnormal ultrastructural aspects of muscle BMs was associated with reduced extracellular secretion of the mutant α1α1α2(IV) trimer. In addition to muscular dystrophic features, endothelial cell defects of the muscle capillaries were observed, with intracytoplasmic accumulation of the mutant α1α1α2(IV) molecules, endoplasmic reticulum cisternae dilation, and up-regulation of endoplasmic reticulum stress markers. Induction of the unfolded protein response in Col4a1 mutant muscle tissue resulted in an excess of apoptosis in endothelial cells. HANAC mutant animals also presented with a muscular functional impairment and increased serum creatine kinase levels reflecting altered muscle fiber sarcolemma. This extensive description of the muscular phenotype of the Col4a1 HANAC murine model suggests a potential contribution of primary endothelial cell defects, together with muscle BM alterations, to the development of COL4A1-related myopathy.
[Mh] Termos MeSH primário: Vasos Sanguíneos/anormalidades
Colágeno Tipo IV/genética
Cãibra Muscular/genética
Músculo Esquelético/irrigação sanguínea
Músculo Esquelético/patologia
Mutação/genética
Doença de Raynaud/genética
[Mh] Termos MeSH secundário: Animais
Apoptose
Vasos Sanguíneos/patologia
Peso Corporal
Creatina Quinase/sangue
Distrofina/metabolismo
Estresse do Retículo Endoplasmático
Células Endoteliais/patologia
Células Endoteliais/ultraestrutura
Matriz Extracelular/metabolismo
Integrina beta1/metabolismo
Camundongos
Camundongos Mutantes
Músculo Esquelético/ultraestrutura
Tamanho do Órgão
Molécula-1 de Adesão Celular Endotelial de Plaquetas/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Col4a1 protein, mouse); 0 (Collagen Type IV); 0 (Dystrophin); 0 (Integrin beta1); 0 (Platelet Endothelial Cell Adhesion Molecule-1); EC 2.7.3.2 (Creatine Kinase)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170106
[St] Status:MEDLINE


  9 / 1850 MEDLINE  
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[PMID]:27978764
[Au] Autor:Stephens HE; Joyce NC; Oskarsson B
[Ad] Endereço:a Patient Centered Research , Gillette , Wyoming , USA.
[Ti] Título:National Study of Muscle Cramps in ALS in the USA.
[So] Source:Amyotroph Lateral Scler Frontotemporal Degener;18(1-2):32-36, 2017 Feb.
[Is] ISSN:2167-9223
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The objective of this study was to describe muscle cramps in an US sample of amyotrophic lateral sclerosis (ALS) patients. Utilizing an anonymous web based questionnaire we queried ALS patients regarding the severity, frequency, time-course, treatment of muscle cramps and their relationship to pain. The survey had 282 respondents with 92% reporting that they had cramps. For 20% of the sample, cramps were stated to be the presenting ALS symptom. Cramp severity was rated at a mean of 5.2/10 and the mean cramp frequency was 5.3 cramps per day. Cramp intensity and frequency did not correlate with duration or severity of ALS. Pain as measured with the Patient Reported Outcome Measurement Information System (PROMIS) pain scales was not statistically different from the US general population. Cramp severity and frequency significantly and positively correlated with the PROMIS pain scales. Patients with more severe cramps were more likely to use prescription medications for their cramps compared to patients with milder symptoms. Treatments directed at cramps were tried by 57%. In conclusion, cramps are a common symptom in ALS and it does not correlate with disease duration or severity. The severity of cramps is on average moderate and many patients try treatments.
[Mh] Termos MeSH primário: Esclerose Amiotrófica Lateral/complicações
Cãibra Muscular/epidemiologia
Cãibra Muscular/etiologia
[Mh] Termos MeSH secundário: Idoso
Esclerose Amiotrófica Lateral/epidemiologia
Feminino
Seres Humanos
Masculino
Meia-Idade
Cãibra Muscular/diagnóstico
Cãibra Muscular/terapia
Relaxantes Musculares Centrais/uso terapêutico
Sistema de Registros/estatística & dados numéricos
Índice de Gravidade de Doença
Estados Unidos/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Muscle Relaxants, Central)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161217
[St] Status:MEDLINE
[do] DOI:10.1080/21678421.2016.1245755


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[PMID]:27964824
[Au] Autor:Chiò A; Mora G; Lauria G
[Ad] Endereço:ALS Centre, "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Italy. Electronic address: achio@usa.net.
[Ti] Título:Pain in amyotrophic lateral sclerosis.
[So] Source:Lancet Neurol;16(2):144-157, 2017 Feb.
[Is] ISSN:1474-4465
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Pain is a largely neglected symptom in patients with amyotrophic lateral sclerosis (ALS) although it is reported by most of these patients. It occurs at all stages of the disease and can be an onset symptom preceding motor dysfunction. Pain is correlated with a deterioration in patients' quality of life and increased prevalence of depression. In the later stages of ALS, pain can be severe enough to require increased use of sedative and analgesic drugs, and is among the events that predict clinical deterioration and death. The site of pain depends on the pain type or underlying mechanism (eg, painful cramps, nociceptive pain, or neuropathic pain). Given the multifactorial nature of pain in patients with ALS, different treatments have been suggested, ranging from non-steroidal anti-inflammatory drugs, drugs for neuropathic pain, opioids, and cannabinoids, to physical therapy strategies and preventive assistive devices. Further understanding of the pathophysiology is crucial to drive assessment in clinical trials of therapeutic strategies targeted at specific mechanisms and studies of individualised therapies.
[Mh] Termos MeSH primário: Esclerose Amiotrófica Lateral/complicações
Cãibra Muscular/etiologia
Neuralgia/etiologia
Dor Nociceptiva/etiologia
[Mh] Termos MeSH secundário: Seres Humanos
Cãibra Muscular/tratamento farmacológico
Neuralgia/tratamento farmacológico
Dor Nociceptiva/tratamento farmacológico
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170828
[Lr] Data última revisão:
170828
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161215
[St] Status:MEDLINE



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