Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 1.503
Filtrar
3.
Muscle Nerve ; 62(3): 344-350, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32510670

RESUMO

BACKGROUND: Limited data exist regarding myopathies with early or prominent dysphagia. METHODS: A retrospective study was performed (January 2003 to August 2019) to identify myopathy patients in whom dysphagia was the initial symptom or was disproportionately severe compared with limb weakness. RESULTS: Thirty-two patients were identified. The median age at diagnosis was 65 y (range, 36-80 y). Inclusion body myositis (IBM) (n = 15), immune-mediated necrotizing myopathy (IMNM) (n = 5), and oculopharyngeal muscular dystrophy (n = 4), were the most common diagnoses. In 4 patients (3 IMNM and 1 nonspecific myositis) dysphagia evolved rapidly. At evaluation, 21 patients required diet alterations, 5 required feeding tubes, and 8 had aspiration pneumonia. Follow-up data were available for 20 patients (median, 24 mo). Eight patients received immunosuppressive therapies with improvement in 7, including 3 of 4 with rapidly progressive dysphagia. CONCLUSIONS: IBM and IMNM accounted for approximately two-thirds of patients with early or prominent dysphagia at our institution. Rapidly progressive dysphagia may predict immunotherapy responsiveness.


Assuntos
Doenças Autoimunes/complicações , Transtornos de Deglutição/etiologia , Distrofias Musculares/complicações , Miosite de Corpos de Inclusão/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
4.
J Neuromuscul Dis ; 7(1): 69-76, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31796684

RESUMO

Muscular weakness and hypotonia may be associated with multisystem involvement giving rise to complex phenotypes, many of which are uncharacterized. We report a patient presenting with congenital hypotonia and severe ocular and brain abnormalities, evoking a Muscle Eye Brain disease (MEB). She had global muscular weakness, hypotonia and amyotrophy, joint hyperlaxity, kyphoscoliosis, respiratory insufficiency, dysmorphic features and severe intellectual disability. Brain MRI showed cortical atrophy and hypoplasia of the corpus callosum. Normal CK levels, non-progressive course and absence of dystrophic features or α-dystroglycan abnormalities on the muscle biopsy were not typical of MEB. CGH array identified a large de novo duplication in chromosome 11, including regions partially duplicated in three other patients with common clinical features. This report adds to the differential diagnosis of complex phenotypes characterized by muscular, ocular and CNS involvement and highlights the potential contribution of still unrecognized chromosomal abnormalities to these phenotypes.


Assuntos
Encefalopatias , Cromossomos Humanos Par 11/genética , Oftalmopatias , Distrofias Musculares , Encefalopatias/diagnóstico , Encefalopatias/etiologia , Diagnóstico Diferencial , Oftalmopatias/diagnóstico , Oftalmopatias/etiologia , Feminino , Humanos , Distrofias Musculares/complicações , Distrofias Musculares/congênito , Distrofias Musculares/diagnóstico , Distrofias Musculares/genética
5.
Dysphagia ; 35(1): 32-41, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-30859305

RESUMO

The purpose of the study is to describe experiences of swallowing with two forms of noninvasive positive-pressure ventilation (NPPV): mouthpiece NPPV (M-NPPV) and nasal bilevel positive airway pressure (BPAP) in people with muscular dystrophy. Ten men (ages 22-42 years; M = 29.3; SD = 7.1) with muscular dystrophy (9 with Duchenne's; 1 with Becker's) completed the Eating Assessment Tool (EAT-10; Ann Otol Rhinol Laryngol 117(12):919-924 [33]) and took part in semi-structured interviews. The interviews were audio recorded, transcribed, and verified. Phenomenological qualitative research methods were used to code (Dedoose.com) and develop themes. All participants affirmed dysphagia symptoms via responses on the EAT-10 (M = 11.3; SD = 6.38; Range = 3-22) and reported eating and drinking with M-NPPV and, to a lesser extent, nasal BPAP. Analysis of interview data revealed three primary themes: (1) M-NPPV improves the eating/drinking experience: Most indicated that using M-NPPV reduced swallowing-related dyspnea. (2) NPPV affects breathing-swallowing coordination: Participants described challenges and compensations in coordinating swallowing with ventilator-delivered inspirations, and that the time needed to chew solid foods between ventilator breaths may lead to dyspnea and fatigue. (3) M-NPPV aids cough effectiveness: Participants described improved cough strength following large M-NPPV delivered inspirations (with or without breath stacking). Although breathing-swallowing coordination is challenging with NPPV, participants reported that eating and drinking is more comfortable than when not using it. Overall, eating and drinking with NPPV delivered via a mouthpiece is preferred and is likely safer for swallowing than with nasal BPAP. M-NPPV (but not nasal BPAP) is reported to improve cough effectiveness, an important pulmonary defense in this population.


Assuntos
Transtornos de Deglutição/terapia , Distrofias Musculares/psicologia , Ventilação não Invasiva/psicologia , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Respiração com Pressão Positiva/psicologia , Adulto , Cânula , Deglutição , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/psicologia , Humanos , Masculino , Boca , Distrofias Musculares/complicações , Distrofias Musculares/fisiopatologia , Ventilação não Invasiva/instrumentação , Ventilação não Invasiva/métodos , Nariz , Respiração com Pressão Positiva/instrumentação , Respiração com Pressão Positiva/métodos , Pesquisa Qualitativa , Adulto Jovem
6.
Nat Commun ; 10(1): 5754, 2019 12 17.
Artigo em Inglês | MEDLINE | ID: mdl-31848331

RESUMO

Heart failure is the major cause of death for muscular dystrophy patients, however, the molecular pathomechanism remains unknown. Here, we show the detailed molecular pathogenesis of muscular dystrophy-associated cardiomyopathy in mice lacking the fukutin gene (Fktn), the causative gene for Fukuyama muscular dystrophy. Although cardiac Fktn elimination markedly reduced α-dystroglycan glycosylation and dystrophin-glycoprotein complex proteins in sarcolemma at all developmental stages, cardiac dysfunction was observed only in later adulthood, suggesting that membrane fragility is not the sole etiology of cardiac dysfunction. During young adulthood, Fktn-deficient mice were vulnerable to pathological hypertrophic stress with downregulation of Akt and the MEF2-histone deacetylase axis. Acute Fktn elimination caused severe cardiac dysfunction and accelerated mortality with myocyte contractile dysfunction and disordered Golgi-microtubule networks, which were ameliorated with colchicine treatment. These data reveal fukutin is crucial for maintaining myocyte physiology to prevent heart failure, and thus, the results may lead to strategies for therapeutic intervention.


Assuntos
Insuficiência Cardíaca/etiologia , Músculo Esquelético/patologia , Distrofias Musculares/complicações , Miócitos Cardíacos/patologia , Transferases/genética , Adulto , Fatores Etários , Animais , Animais Recém-Nascidos , Sistemas CRISPR-Cas/genética , Células Cultivadas , Modelos Animais de Doenças , Distroglicanas/metabolismo , Feminino , Técnicas de Inativação de Genes , Glicosilação , Células HEK293 , Insuficiência Cardíaca/patologia , Ventrículos do Coração/citologia , Ventrículos do Coração/patologia , Humanos , Masculino , Proteínas de Membrana/genética , Camundongos , Camundongos Knockout , Músculo Esquelético/citologia , Distrofias Musculares/genética , Distrofias Musculares/patologia , Contração Miocárdica/genética , Miócitos Cardíacos/citologia , Cultura Primária de Células , Sarcolema/patologia , Transferases/metabolismo
7.
Clín. investig. arterioscler. (Ed. impr.) ; 31(6): 278-281, nov.-dic. 2019. graf
Artigo em Espanhol | IBECS | ID: ibc-185154

RESUMO

Las estatinas están contraindicadas en pacientes con miopatías. Hasta hace unos años, la alternativa en pacientes con hipercolesterolemia familiar que tenían distrofias musculares y no conseguían niveles adecuados de colesterol era la lipoaféresis. Cuando surgieron los inhibidores de PCSK9, se consiguió suspender la lipoaféresis en algunos de estos pacientes y mantenerlos con concentraciones plasmáticas de colesterol adecuadas. Presentamos el caso de un varón, diagnosticado en la infancia de distrofia muscular congénita. A los 27 años se remitió a la unidad de lípidos por hipercolesterolemia, donde tras estudio genético se confirmó una hipercolesterolemia familiar heterocigota. A pesar del tratamiento con dieta y ezetimiba continuó con cifras elevadas de cLDL por lo que se incluyó en programa de lipoaféresis. Con esto se alcanzaron niveles de cLDL de 70 mg/dl. Al disponer de los iPCSK9, se suspendió la lipoaféresis y se inició tratamiento con alirocumab 150 mg quincenal, con buena respuesta y manteniendo valores de cLDL en torno a 75 mg/dl


Statins are contraindicated in patients with myopathies. Until a few years ago, in those patients with Familial Hypercholesterolemia who also presented muscular dystrophies and didńt reach adequate cholesterol plasmatic levels, the next therapeutic ladder was lipoapheresis. When iPCSK9 first appeared, lipoapheresis could be suspended in some of these patients, sustaining nevertheless proper levels of cholesterol. We present the case of a 27 year-old male, diagnosed with Congenital Muscular Dystrophy in the early childhood. He was referred to the Unit of Lipidology presenting hypercholesterolemia which, after genetic test, was assessed as Heterozygous Familial Hypercholesterolemia. Despite of treatment with diet and ezetimibe, cLDL blood levels abide high, being consequently included in lipoapheresis programme, therewith obtained levels of cLDL of 70 mg/dl. In providing iPCSK9, lipoapheresis was withdrawn and treatment with alirocumab 150 mg fortnightly introduced, unveiling a positive response, and sustaining cLDL levels around 75 mg/dl


Assuntos
Humanos , Masculino , Adulto , Pró-Proteína Convertase 9/administração & dosagem , Hipercolesterolemia/tratamento farmacológico , Distrofias Musculares/diagnóstico , Contraindicações de Medicamentos , Distrofias Musculares/complicações , Distrofias Musculares/congênito , Inibidores de Hidroximetilglutaril-CoA Redutases/efeitos adversos , Hipotonia Muscular/complicações
8.
Pol Merkur Lekarski ; 47(280): 153-156, 2019 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-31760399

RESUMO

Cardiac arrhythmias are common in patients with various types of muscular dystrophies. The pathophysiological mechanisms of arrhythmias are complex and related to direct involvement of the conduction system and to the development of cardiomyopathy. The occurrence of atrio-ventricular conduction abnormalities and ventricular arrhythmias are associated with increased risk of sudden cardiac death. The threshold for device therapy ( cardiac pacemaker, implantable cardioverter defibrillator) is relatively low according to current guidelines due to the risk of rapid progression of the disease. Atrial arrhythmias carry high risk of stroke and anticoagulation should be considered even in young patients without coexisting risk factors for stroke as estimated by the CHA2DS2-VASc score. Patients with muscular dystrophies should be under regular cardiology follow up even in the absence of symptoms. Early detection of cardiac involvement is crucial. The management of patients with muscular dystrophies requires disease-specific and multidisciplinary approach due to the multi-organ involvement.


Assuntos
Arritmias Cardíacas , Desfibriladores Implantáveis , Distrofias Musculares , Arritmias Cardíacas/complicações , Arritmias Cardíacas/terapia , Morte Súbita Cardíaca , Sistema de Condução Cardíaco , Humanos , Distrofias Musculares/complicações
9.
Muscle Nerve ; 60(6): 648-657, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31449669

RESUMO

Although myopathies and neuromuscular junction disorders are typically distinct, their coexistence has been reported in several inherited and acquired conditions. Affected individuals have variable clinical phenotypes but typically display both a decrement on repetitive nerve stimulation and myopathic findings on muscle biopsy. Inherited causes include myopathies related to mutations in BIN1, DES, DNM2, GMPPB, MTM1, or PLEC and congenital myasthenic syndromes due to mutations in ALG2, ALG14, COL13A1, DOK7, DPAGT1, or GFPT1. Additionally, a decrement due to muscle fiber inexcitability is observed in certain myotonic disorders. The identification of a defect of neuromuscular transmission in an inherited myopathy may assist in establishing a molecular diagnosis and in selecting patients who would benefit from pharmacological correction of this defect. Acquired cases meanwhile stem from the co-occurrence of myasthenia gravis or Lambert-Eaton myasthenic syndrome with an immune-mediated myopathy, which may be due to paraneoplastic disorders or exposure to immune checkpoint inhibitors.


Assuntos
Músculo Esquelético/fisiopatologia , Doenças Musculares/fisiopatologia , Síndromes Miastênicas Congênitas/fisiopatologia , Junção Neuromuscular/fisiopatologia , Cardiomiopatias/complicações , Cardiomiopatias/patologia , Cardiomiopatias/fisiopatologia , Eletrodiagnóstico , Eletromiografia , Humanos , Músculo Esquelético/patologia , Doenças Musculares/complicações , Doenças Musculares/patologia , Distrofias Musculares/complicações , Distrofias Musculares/patologia , Distrofias Musculares/fisiopatologia , Miastenia Gravis/complicações , Miastenia Gravis/patologia , Miastenia Gravis/fisiopatologia , Síndromes Miastênicas Congênitas/complicações , Síndromes Miastênicas Congênitas/patologia , Miopatias Congênitas Estruturais/complicações , Miopatias Congênitas Estruturais/patologia , Miopatias Congênitas Estruturais/fisiopatologia , Transtornos Miotônicos/complicações , Transtornos Miotônicos/patologia , Transtornos Miotônicos/fisiopatologia , Condução Nervosa
10.
Int J Mol Sci ; 20(16)2019 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-31394715

RESUMO

Muscular dystrophy and dilated cardiomyopathy are intractable diseases and their treatment options are very limited. Transient receptor potential cation channel subfamily V, member 2 (TRPV2), is a stretch-sensitive Ca2+-permeable channel that causes sustained intracellular Ca2+ increase in muscular cells, which is a pathophysiological feature of degenerative muscular disease. Recent reports have clarified that TRPV2 is concentrated and activated in the sarcolemma of cardiomyocytes/myocytes during cardiomyopathy/heart failure and muscular dystrophy. Furthermore, these reports showed that inactivation of TRPV2 ameliorates muscle dysgenesis to improve cardiac function and survival prognosis. Although TRPV2 is a potential therapeutic target for cardiomyopathy, there were no TRPV2 inhibitors available until recently. In this review, we introduce our recent findings and discuss the current progress in the development of TRPV2 inhibitors and their therapeutic applications for cardiomyopathy associated with muscular dystrophy.


Assuntos
Cardiomiopatia Dilatada/tratamento farmacológico , Cardiomiopatia Dilatada/etiologia , Terapia de Alvo Molecular , Distrofias Musculares/complicações , Distrofias Musculares/metabolismo , Canais de Cátion TRPV/antagonistas & inibidores , Animais , Ensaios Clínicos como Assunto , Descoberta de Drogas , Expressão Gênica , Humanos , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Distrofias Musculares/etiologia , Domínios e Motivos de Interação entre Proteínas , Canais de Cátion TRPV/química , Canais de Cátion TRPV/genética , Canais de Cátion TRPV/metabolismo
11.
Magn Reson Imaging Clin N Am ; 27(3): 521-531, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31279454

RESUMO

Muscular dystrophy is a group of genetically inherited diseases with irreversible and progressive muscle loss and is associated with cardiac involvement. Particularly in Duchenne and Becker dystrophies, cardiac disorders are the leading causes of mortality. Cardiovascular magnetic resonance imaging (CMR) can detect even incipient myocardial fibrosis (late gadolinium enhancement), which has prognostic significance in patients with preserved left ventricular function by echocardiogram and before the onset of symptoms. Early detection of cardiac abnormalities by CMR enables early cardioprotective treatment, leading to a better prognosis.


Assuntos
Cardiopatias/complicações , Cardiopatias/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Distrofias Musculares/complicações , Coração/diagnóstico por imagem , Coração/fisiopatologia , Cardiopatias/fisiopatologia , Humanos
12.
Acta Myol ; 38(1): 1-7, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-31309174

RESUMO

Cardiomyopathy associated with dystrophinopathies - Duchenne muscular Dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XL-CM) and cardiomyopathy of Duchenne/Becker (DMD/BMD carriers - is an almost constant manifestation of these neuromuscular disorders and contribute significantly to their morbidity and mortality. Dystrophinopathic cardiomyopathy is the result of the dystrophin protein deficiency at the myocardium level, parallel to that occurring at the skeletal muscle level. Typically, cardiomyopathy begins as a "presymptomatic" stage in the first decade of life and evolves in a stepwise manner toward an end-stage dilated cardiomyopathy. Nearly complete replacement of the myocardium by fibrous and fatty connective tissue results in an irreversible cardiac failure, characterized by a further reduction of ejection fraction (EF < 30%) and frequent episodes of acute heart failure (HF). The picture of a severe dilated cardiomyopathy with intractable heart failure is typical of dystrophinopathies. Despite an appropriate pharmacological treatment, this condition is irreversible because of the extensive loss of myocites. Heart transplantation is the only curative therapy for patients with end-stage heart failure, who remain symptomatic despite an optimal medical therapy. However there is a reluctance to perform heart transplantation (HT) in these patients due to the scarcity of donors and the concerns that the accompanying myopathy will limit the benefits obtained through this therapeutic option. Therefore the only possibility to ameliorate clinical symptoms, prevent fatal arrhythmias and cardiac death in dystrophinopathic patients could be the implantation of intracardiac device (ICD) or resynchronizing devices with defibrillator (CRT-D). This overview reports the personal series of patients affected by DMD and BMD and DMD carriers who received ICD or CRT-D system, describe the clinical outcomes so far published and discuss pro and cons in the use of such devices.


Assuntos
Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/terapia , Desfibriladores Implantáveis , Distrofias Musculares/complicações , Adolescente , Criança , Ecocardiografia , Eletrocardiografia , Feminino , Humanos , Masculino , Estudos Retrospectivos
13.
Clin Investig Arterioscler ; 31(6): 278-281, 2019.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-30979437

RESUMO

Statins are contraindicated in patients with myopathies. Until a few years ago, in those patients with Familial Hypercholesterolemia who also presented muscular dystrophies and didnt reach adequate cholesterol plasmatic levels, the next therapeutic ladder was lipoapheresis. When iPCSK9 first appeared, lipoapheresis could be suspended in some of these patients, sustaining nevertheless proper levels of cholesterol. We present the case of a 27 year-old male, diagnosed with Congenital Muscular Dystrophy in the early childhood. He was referred to the Unit of Lipidology presenting hypercholesterolemia which, after genetic test, was assessed as Heterozygous Familial Hypercholesterolemia. Despite of treatment with diet and ezetimibe, cLDL blood levels abide high, being consequently included in lipoapheresis programme, therewith obtained levels of cLDL of 70mg/dl. In providing iPCSK9, lipoapheresis was withdrawn and treatment with alirocumab 150mg fortnightly introduced, unveiling a positive response, and sustaining cLDL levels around 75mg/dl.


Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , LDL-Colesterol/sangue , Hipercolesterolemia/tratamento farmacológico , Pró-Proteína Convertase 9/antagonistas & inibidores , Adulto , Humanos , Hipercolesterolemia/sangue , Hipercolesterolemia/complicações , Hipercolesterolemia/genética , Masculino , Distrofias Musculares/complicações
14.
Future Cardiol ; 15(2): 95-107, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30848673

RESUMO

AIM: The aim of the study was to assess predictors of outcome in patients hospitalized for dilated cardiomyopathy (DCM) and severe left ventricular dysfunction. Patients & methods: 83 pediatric patients hospitalized for heart failure due to DCM with coexistent left ventricular dysfunction were enrolled. RESULTS: Overall, 5-year survival free from heart transplantation was 69.8%. Normalization of left ventricular function was achieved in 39.8% of patients during follow-up: younger age, less necessity of inotropic support and other than idiopathic DCM predicted left ventricular function, while familial history for cardiac disease or sudden death and inotropic support during hospitalization were associated with poorer outcome. CONCLUSION: Almost 40% of patients with DCM experienced a complete normalization of cardiac function. Outcome was extremely variable according to the type of DCM.


Assuntos
Cardiomiopatia Dilatada/epidemiologia , Cardiopatias Congênitas/complicações , Distrofias Musculares/complicações , Sistema de Registros , Medição de Risco/métodos , Volume Sistólico/fisiologia , Função Ventricular Esquerda/fisiologia , Bioestatística , Cardiomiopatia Dilatada/etiologia , Cardiomiopatia Dilatada/fisiopatologia , Pré-Escolar , Eletrocardiografia , Feminino , Seguimentos , Cardiopatias Congênitas/diagnóstico , Humanos , Itália/epidemiologia , Masculino , Distrofias Musculares/diagnóstico , Prevalência , Prognóstico , Estudos Prospectivos , Fatores de Risco , Taxa de Sobrevida/tendências , Remodelação Ventricular
16.
BMC Neurol ; 19(1): 32, 2019 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-30808312

RESUMO

BACKGROUND: Collagen VI-related myopathies are a spectrum of muscular diseases with features of muscle weakness and atrophy, multiple contractures of joints, distal hyperextensibility, severe respiratory dysfunction and cutaneous alterations, attributable to mutations in the COL6A1, COL6A2, and COL6A3 genes. However, no case of collagen VI mutations with hematuria has been reported. We report a 14-year-old boy who had both Bethlem myopathy and recurrent hematuria and who carried a known de novo COL6A1 missense mutation c.877G > A (p.G293R). CASE PRESENTATION: The patient was a 14-year-old boy presenting with muscle weakness from 3 years of age without any family history. Six months before admission, he developed recurrent gross hematuria, three bouts in total, with the presence of blood clots in the urine. Next-generation sequencing of his whole-exome was performed. The result of sequencing revealed a de novo heterozygous G-to-A nucleotide substitution at position 877 in exon 10 of the COL6A1 gene. After treatment, the hematuria healed, but the muscle weakness failed to improve. CONCLUSIONS: Hematuria in Bethlem myopathy can be caused by COL6 mutations, which may be related to the aberrant connection between collagen VI and collagen IV.


Assuntos
Colágeno Tipo VI/genética , Contratura/genética , Distrofias Musculares/congênito , Adolescente , Contratura/complicações , Contratura/diagnóstico , Contratura/patologia , Hematúria/etiologia , Hematúria/genética , Humanos , Masculino , Distrofias Musculares/complicações , Distrofias Musculares/diagnóstico , Distrofias Musculares/genética , Distrofias Musculares/patologia , Mutação , Recidiva
17.
J Int Med Res ; 47(2): 1030-1034, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30614353

RESUMO

Rigid spine syndrome is a rare myopathy in children and has a poor prognosis because of its lack of treatment and eventual ventilatory failure. We report the case of a 10-year-old child with RSS and ventilatory disorders. We provided care to the child using bilevel positive airway pressure (BiPAP) non-invasive mechanical ventilation and continuous monitoring of transcutaneous carbon dioxide pressure. A 10-year-old Han Chinese girl presented (6 April 6 2016) to the Shanghai Children's Medical Center with ventilatory disorders, including hypoxia and hypercapnia. Transcutaneous oxygen saturation with mask oxygen inspiration was 90%. BiPAP non-invasive ventilator-assisted ventilation was continuously used. Through continuous non-invasive ventilation and carbon dioxide monitoring, the symptoms of dyspnea in this child were effectively controlled and improved. She was discharged on April 19 with instructions to continue using BiPAP at home and transcutaneous oxygen saturation was maintained at 94% to 98%. This case highlights that nursing of patients with rigid spine syndrome and ventilatory disorders should focus on evaluating the effect of non-invasive mechanical ventilation, prevention of complications, and continuous nursing after discharge. Additionally, continuous monitoring of transcutaneous carbon dioxide pressure is feasible for evaluating the effect of BiPAP.


Assuntos
Corpos de Mallory/patologia , Distrofias Musculares/complicações , Respiração com Pressão Positiva , Respiração Artificial , Insuficiência Respiratória/etiologia , Escoliose/complicações , Dióxido de Carbono/análise , Criança , Feminino , Humanos , Prognóstico , Insuficiência Respiratória/enfermagem , Insuficiência Respiratória/patologia , Insuficiência Respiratória/terapia
18.
J Int Neuropsychol Soc ; 25(2): 146-155, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30511603

RESUMO

OBJECTIVES: The aim of this study was to investigate executive skills in children with dystrophinopathy and to examine the association between executive functions and dystrophin gene mutation position. METHODS: Fifty boys with dystrophinopathy (mean age, 11 years 0 months; ages range, 5 to 17 years) completed measures of intellectual functioning (IF), working memory and executive functioning [including Digit Span (working memory) and measures from the NIH Toolbox (selective attention/inhibitory control, set shifting, working memory, and processing speed)]. Parents completed the Behavior Rating Inventory of Executive Function (BRIEF). Mutation positions were categorized into three groups (upstream exon 30, 31-62, and downstream exon 63). Paired-samples t tests compared performance on executive measures to IF, and a one-way (three-group) multivariate analysis of covariance compared cognitive performance with mutation location controlling for motor functioning. RESULTS: Mean performance on all executive measures was significantly lower than IF. Parents were also more likely to rate their child with dystrophinopathy as having clinically significant executive difficulties on the Shift, Emotional Control, and Behavior Regulation indices of the BRIEF. Mutation analyses resulted in small groups limiting power to detect subtle differences. Those with a downstream mutation position had significantly poorer performance on IF and Total Digit Span, but not on other measures of executive function including behavior. CONCLUSIONS: Individuals with dystrophinopathy have executive skill deficits, but they are not generally associated with more distal mutations. (JINS, 2019, 25, 146-155).


Assuntos
Disfunção Cognitiva/fisiopatologia , Distrofina/genética , Função Executiva/fisiologia , Inteligência/fisiologia , Memória de Curto Prazo/fisiologia , Distrofias Musculares/genética , Distrofias Musculares/fisiopatologia , Desempenho Psicomotor/fisiologia , Adolescente , Criança , Pré-Escolar , Disfunção Cognitiva/etiologia , Humanos , Masculino , Distrofias Musculares/complicações
19.
Int J Pediatr Otorhinolaryngol ; 117: 198-203, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30579082

RESUMO

INTRODUCTION: Dysphagia in progressive muscle diseases is primarily due to muscle weakness. Objective of our study is to investigate the prevalence and phenotypes of dysphagia in patients with childhood onset muscular dystrophy (MD) with the use of a validated questionnaire, the measurement of tongue strength and Flexible Endoscopic Evaluation of Swallowing (FEES). METHODS: Prospective observational longitudinal study of dysphagia in a cohort of 58 patients attending the Pediatric Department Center for Neuromuscular Diseases. Control participants were 56 age and sex matched healthy volunteers. Dysphagia was evaluated with the Eating Assessment Tool-10 (EAT-10), and the measurement of Maximal Isometric Tongue Pressure (MITP) and tongue endurance (Iowa Oral Performance Instrument-IOPI). Dysphagic patients were submitted to FEES. Recorded data included demographic and anthropometric characteristics, type of MD, feeding status, and spirometry. RESULTS: Our patients' cohort consisted of 41 children, 11 adolescents, and 6 adults. Based on EAT-10, 20.7% of the patients were dysphagic: 14.63% of children, 27.3% of adolescents and 50% of adults. The main complain was solid food dysphagia. Spirometry parameters mean values for children and adolescent patients corresponded to lower than the fifth percentile. Means of FVC and FEV1 expressed as % predicted for adult patients were 27.8 (SD:25.05) and 28.8 (SD:28.44) respectively. Reduced tongue strength was measured to children aged 9-10, adolescent and adult MD patients. The main FEES findings were pharyngeal residue, spillage of food before the swallow, and supraglottal penetration. DISCUSSION: This is the first study to use a validated questionnaire to evaluate dysphagia in childhood onset MD and report dyphagia prevalence at different patients' age. This is the first study reporting MITP in children and adults with generalised MD. Tongue pressures are reduced well before clinical signs of dysphagia are present. CONCLUSION: Screening of potentially dysphagic MD patients can be based on a validated questionnaire. Patients with an EAT-10 score suggestive of dysphagia at regular follow-up can have the MITP measured and in the case of reduced values a thorough dysphagia evaluation with FEES is indicated.


Assuntos
Transtornos de Deglutição/diagnóstico , Distrofias Musculares/complicações , Distrofias Musculares/fisiopatologia , Inquéritos e Questionários , Língua/fisiopatologia , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Deglutição/fisiologia , Transtornos de Deglutição/etiologia , Ingestão de Alimentos , Endoscopia , Feminino , Volume Expiratório Forçado , Humanos , Estudos Longitudinais , Masculino , Força Muscular , Pressão , Estudos Prospectivos , Capacidade Vital , Adulto Jovem
20.
Int Heart J ; 60(1): 12-18, 2019 Jan 25.
Artigo em Inglês | MEDLINE | ID: mdl-30518714

RESUMO

Emery-Dreifuss muscular dystrophy (EDMD) is a group of hereditary muscular dystrophy syndrome caused by deficiency of genes encoding nuclear envelope proteins. Patients having EDMD show the triad of muscle dystrophy, joint contracture, and cardiac disease. In almost all patients, cardiac involvement is prevalent and is the most severe aspect of EDMD. Cardiac disease is predominantly shown by conduction defects, atrial fibrillation/flutter, and atrial standstill. Sudden death and heart failure because of left ventricular dysfunction are important causes of mortality, particularly in those patients that have the LMNA mutation. Medical treatment of EDMD is limited to addressing symptoms and ambulation support; moreover, pacemaker implantation is necessary when there are severe conduction defects and bradycardia occurs. Note that automated defibrillation devices may be considered for those patients who have a high risk of sudden death, rate, or rhythm control. Also, anticoagulation should be initiated in those patients who have atrial fibrillation/flutter. Thus, for optimal management, a multidisciplinary approach is required.


Assuntos
Fibrilação Atrial/terapia , Distrofia Muscular de Emery-Dreifuss/genética , Disfunção Ventricular Esquerda/mortalidade , Anormalidades Múltiplas/epidemiologia , Anticoagulantes/uso terapêutico , Fibrilação Atrial/complicações , Fibrilação Atrial/tratamento farmacológico , Fibrilação Atrial/epidemiologia , Cardiomiopatias/fisiopatologia , Fissura Palatina/complicações , Fissura Palatina/epidemiologia , Contratura/complicações , Contratura/epidemiologia , Morte Súbita/epidemiologia , Feminino , Doenças Genéticas Inatas/fisiopatologia , Átrios do Coração/anormalidades , Átrios do Coração/fisiopatologia , Bloqueio Cardíaco/fisiopatologia , Cardiopatias/complicações , Cardiopatias/epidemiologia , Humanos , Hidrocefalia/complicações , Hidrocefalia/epidemiologia , Comunicação Interdisciplinar , Deformidades Congênitas dos Membros/complicações , Deformidades Congênitas dos Membros/epidemiologia , Masculino , Distrofias Musculares/complicações , Distrofias Musculares/epidemiologia , Distrofia Muscular de Emery-Dreifuss/complicações , Distrofia Muscular de Emery-Dreifuss/diagnóstico , Distrofia Muscular de Emery-Dreifuss/terapia , Marca-Passo Artificial/normas , Disfunção Ventricular Esquerda/epidemiologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA