Navegando por Palavras-chave "muscular weakness"

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    Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease
    (Assoc Arquivos Neuro- Psiquiatria, 2016) Llerena Junior, Juan Clinton; Nascimento, Osvaldo J. M.; Oliveira, Acary Souza Bulle [UNIFESP] ; Dourado Junior, Mario Emilio T.; Marrone, Carlo D.; Siqueira, Heloise Helena; Sobreira, Claudia F. R.; Dias-Tosta, Elza; Werneck, Lineu Cesar
    Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme (R)). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L'Hotel Port Bay in Sao Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.
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    Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?
    (Assoc Arquivos Neuro- Psiquiatria, 2018) Lorenzoni, Paulo Jose; Kay, Claudia Suemi Kamoi; Higashi, Nadia Sugano; D'Almeida, Vania [UNIFESP]; Werneck, Lineu Cesar; Scola, Rosana Herminia
    Pompe disease is an inherited disease caused by acid alpha-glucosidase (GAA) deficiency. A single center observational study aimed at assessing the prevalence of late-onset Pompe disease in a high-risk Brazilian population, using the dried blood spot test to detect GAA deficiency as a main screening tool. Dried blood spots were collected for GAA activity assay from 24 patients with "unexplained" limb-girdle muscular weakness without vacuolar myopathy in their muscle biopsy. Samples with reduced enzyme activity were also investigated for GAA gene mutations. Of the 24 patients with dried blood spots, one patient (4.2%) showed low GAA enzyme activity (NaG/AaGIA: 40.42
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    Systemic effects of chronic obstructive pulmonary disease in young-old adults' life-space mobility
    (Dove Medical Press Ltd, 2017) Fontenele Garcia, Isabel Fialho; Tiuganji, Carina Tiemi; Morais Pereira Simoes, Maria do Socorro; Santoro, Ilka Lopes[UNIFEP]; Lunardi, Adriana Claudia
    Purpose: The objective was to assess whether dyspnea, peripheral muscle strength and the level of physical activity are correlated with life-space mobility of older adults with COPD. Patients and methods: Sixty patients over 60 years of age (40 in the COPD group and 20 in the control group) were included. All patients were evaluated for lung function (spirometry), life-space mobility (University of Alabama at Birmingham Study of Aging Life-Space Assessment), dyspnea severity (Modified Dyspnea Index), peripheral muscle strength (handgrip dynamometer), level of physical activity and number of daily steps (accelerometry). Groups were compared using unpaired t-test. Pearson's correlation was used to test the association between variables. Results: Life-space mobility (60.41 +/- 16.93 vs 71.07 +/- 16.28 points), dyspnea (8 [7-9] vs 11 [10-11] points), peripheral muscle strength (75.16 +/- 14.89 vs 75.50 +/- 15.13 mmHg), number of daily steps (4,865.4 +/- 2,193.3 vs 6,146.8 +/- 2,376.4 steps), and time spent in moderate to vigorous activity (197.27 +/- 146.47 vs 280.05 +/- 168.95 minutes) were lower among COPD group compared to control group (p<0.05). The difference was associated with the lower mobility of COPD group in the neighborhood. Conclusion: Life-space mobility is decreased in young-old adults with COPD, especially at the neighborhood level. This impairment is associated to higher dyspnea, peripheral muscle weakness and the reduced level of physical activity.