Navegando por Palavras-chave "Doença dos neurônios motores"

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    Caracterização clínica, epidemiológica, neurorradiológica e genética de pacientes com síndrome Fosmn
    (Universidade Federal de São Paulo (UNIFESP), 2018-07-26) Pinto, Wladimir Bocca Vieira de Rezende [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; http://lattes.cnpq.br/3911841387107665; http://lattes.cnpq.br/8416591409563935; Universidade Federal de São Paulo (UNIFESP)
    Objectives: Perform clinical characterization of motor and nonmotor aspects of FOSMN (facialonset sensory and motor neuronopathy) syndrome in Brazilian patients. Secondary objectives included: (i) evaluation of the genetic basis associated with FOSMN syndrome, especially in patients with familial history of MND (Motor Neuron Disease)/ALS (Amyotrophic Lateral Sclerosis) or other neurodegenerative diseases or a specific genetic spectrum; (ii) discussion of the main pathophysiological mechanisms involved with FOSMN syndrome correlating genetic findings observed in sporadic and familial MND/ALS and the main atypical variants. Methods: A retrospective clinical study was performed and a wide evaluation and review of clinical, laboratorial, neurophysiological and neurogenetic findings from ten nonrelated Brazilian patients with FOSMN syndrome selected from a group of 900 patients followedup from January 2012 and December 2016 in MND/ALS Unit, Division of Neuromuscular Diseases, Federal University of São Paulo (UNIFESP), São Paulo, Brazil. Medical records were verified including clinical characterization of signs and symptoms of motor and nonmotor compromise (including basic cognitive profile), laboratorial evaluation, neuroimaging studies and specific genetic exams. Genetic studies were reviewed and performed in cases with previously established or suggestive familial (or hereditary) context of a specific neurodegenerative phenotype of familial MND/ALS. Results: Mean age at onset of symptoms was at 52.1 years, with equal involvement of men and women. Patients presented with hemifacial paraesthesia (including oral cavity mucosa) or bialteral paraesthesia and weakness in the face, evolving with dysphagia, dysphonia and amyotrophy in the face and tongue, eventually with compromise of other bulbar and pontine cranial nerves, and finally at latestages with dropped head syndrome, weakness in the upper limbs and sensory changes in the upper limbs in a similar pattern to syryngomyelialike. Eight patients presented with multidomain cognitive compromise, half of them with cortical brain atrophy and none of them with spontaneous cognitive or behavioral complaints. All patients had diffuse chronic denervation involving the bulbar, cervical and thoracic myotomes (most of them also with acute denervation) and abnormal testing of the blink reflex. Positive family history of neurodegeneration was identified in six cases, disclosing monogenic pathogenic variants in three families (VCP, TARDBP and CHCHD10 genes). The worst clinical prognosis regarding mortality and severe motor handicap was observed in one single case with early bulbaronset of symptoms and high tendency of early cervical weakness (droppedhead syndrome). Conclusion: This case series has demonstrated new clinical and neurogenetic findings associated with FOSMN syndrome: (i) motor clinical course is not always benign with worse prognosis associated with “droppedhead” syndrome and early bulbar compromise; (ii) although considered a sporadic MND in current literature, FOSMN syndrome may be part of a complex familial neurodegenerative spectrum; (iii) it has been observed the association of FOSMN syndrome in three patients with pathogenic variants in TARDBP, VCP and CHCHD10 genes; (iv) cognitive compromise may be underdiagnosed in cases of FOSMN syndrome possibly due to subclinical involvement.
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    Relevância dos aspectos nutricionais na sobrevida de pacientes com Doença do Neurônio Motor
    (Universidade Federal de São Paulo (UNIFESP), 2011-05-25) Stanich, Patricia [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Aims. To evaluate the effect of nutrition on survival of patients with Motor Neurone Disease (MND) and present the predictor variables for indications of nutritional therapy, percutaneous endoscopic gastrostomy (PEG). Methods. It was a retrospective longitudinal cohort study, from 2000 to 2008, and the sample consisted of 128 patients with MND. The variables investigated were clinical, nutritional and respiratory were analysed. Analyses were conducted by adopting the survival as the dependent variable. The survival curve was evaluated by Kaplain - Meier. The variables that had a significance level of 20% (p <0.20) were selected for the proportional regression model of Cox. Results. One hundred and eleven patients underwent gastrostomy, and 59 limb onset (ALS) and 52 with bulbar onset (PBP). Malnutrition was present in 32% of the population before PEG, most frequently in patients with limb onset. The survival time after PEG was 10.5 months for patients with PBP and 16 months for ALS (p <0.05). Variables associated with survival were: early indication in the PEG, for ALS and PBP; reduction of FVC% and BMI before PEG (hazard ratio of 0, 254, p = 0, 007) for patients with limb onset and exclusion of oral feeding and tracheostomy (hazard ratio of 0, 345, p = 0, 014) for patients with bulbar onset. Conclusions. Early insertion of percutaneous endoscopic gastrostomy, from the time diagnosis was a protective factor for patient survival. Malnutrition was a bad prognostic factor, especially for patients with limb onset. Nutritional surveillance for disease progression may improve results when the goal is to increase the survival of patients with MND / ALS.