Clinical Manifestation of Nebulin-Associated Nemaline Myopathy.

Background and Objectives: Nemaline myopathy (NM) is a genetically heterogeneous inherited myopathy related with at least 12 genes, whereas pathogenic variants in NEB gene are the most common genetic cause. The clinical spectrum of NM caused by NEB pathogenic variants (NM-NEB) is very broad, ranging from mild to severe presentations manifesting with generalized weakness, as well as respiratory and bulbar involvement. There is currently not enough data regarding the progression of the disease. In this study, we present a genotypic and phenotypic spectrum of 33 patients with NM caused by NEB variants (NM-NEB) classified according to age groups and the use of ventilatory support. We focused on interventional support, genotype-phenotype correlation, and association between respiratory, bulbar, and motor systems in groups of patients stratified by age and by the use of ventilatory support (VS). Methods: Clinical and genetic data from patients with NM-NEB followed up in one specialized center were collected through regular consultations. Patients were evaluated regarding motor, bulbar, and respiratory functions. Results: Thirty-three patients with NM-NEB were evaluated consisting of 15 females and 18 males with an average age of 18 (±12) years and a median of 17 (±11) years. 32% of patients with NM-NEB used a G tube, 35% were not able to walk without support, and 55% needed VS. Scoliosis and dysphagia were more common among patients who used VS. Described for the first time, half of the patients presented tongue atrophy in a triple furrow pattern, and the presence of the atrophy was associated with dysphagia. Comparing the patients grouped by age, we found that, proportionally, older patients had more scoliosis and respiratory dysfunction than younger groups, suggesting the progression of the disease in these domains. In addition to that, we showed that VS use was associated with scoliosis and dysphagia. Discussion: NM-NEB is a very debilitating disease. There is an association between scoliosis and respiratory dysfunction while patients using VS have more often scoliosis than the no-VS group. Triple furrow tongue atrophy is a novel and frequent finding, which is directly associated with dysphagia. Grouping patients by age suggested disease stability in motor and swallow function, but a progression in respiratory dysfunction and skeletal deformities. All observations are relevant in the management care of patients with NM.

Decannulation: a retrospective cohort study of clinical and swallowing indicators of success.

OBJECTIVE: To investigate the clinical and swallowing indicators related to a successful decannulation process during the hospital stay. METHODS: A retrospective cohort clinical study. The study sample comprised a heterogeneous patient population who had submitted to a tracheostomy procedure in a tertiary hospital. Patients were divided into two groups (decannulated vs. non-decannulated) and compared not only in terms of demographic and clinical data but also the results of a swallowing assessment and intervention outcome. RESULTS: Sixty-four patients were included in the present study: 25 (39%) who had been successfully decannulated, and 39 (61%) who could not be decannulated. Between-group comparisons indicated that both groups presented similar clinical and demographic characteristics. The groups also presented similar swallowing assessment results prior to intervention. However, significant differences were observed regarding the time to begin swallowing rehabilitation. The decannulated group was assessed nine days earlier than the non-decannulated group. Other significant differences included the removal of the alternate feeding method (72.0% of decannulated patients vs. 5.1% of non-decannulated patients) and the reintroduction of oral feeding (96.0% of decannulated patients vs. 41.0% of non-decannulated patients) and functional swallowing level at patient disclosure. The non-decannulated patient group presented higher death rates at disclosure. CONCLUSION: The results of the present study indicated that the following parameters were associated with a successful decannulation process: early swallowing assessment, swallowing rehabilitation, and improvement in the swallowing functional level during the hospital stay. The maintenance of low swallowing functional levels was found to be negatively associated with successful decannulation.

Oral transit time: a critical review of the literature.

INTRODUCTION: Oral transit time is one of the parameters observed during the clinical assessment of the swallowing function. The importance of this parameter is due to its impact on the total duration of a meal, whose consequence can be an unfavorable nutritional prognostic. OBJECTIVE: To document scientific papers that measure oral transit time in healthy subjects. METHOD: The review followed the steps proposed by the Cochrane Handbook. The search was done via the PubMed database through the use of descriptors related to the oral phase of swallowing, as well as to types of food consistency. RESULTS: The articles on the theme had different definitions for oral transit time, as well as heterogeneity of tested volumes, age and gender of the participants. The times found varied from 0.35 s to 1.54 s for liquids, from 0.39 s to 1.05 s for pasty foods and from 1 s to 12.8 s for solid foods. Also, regardless of volume or consistency, oral transit time in elderly people is significantly longer than in adults. CONCLUSION: There's no consensus in the literature about oral transit time in healthy subjects. However, this parameter should be valued during the assessment of the swallowing function due to its negative impact on the dynamics of swallowing, which can cause high energy expenditure during feeding.

Rehabilitative management of swallowing and oral-motor movements in patients with tetanus of a public service in Brazil.

When looking at developing countries, the prolonged intensive medical and nursing care required by many patients places extra demands on an already stretched healthcare budget. The purpose of this study was to verify the effectiveness of a systematic rehabilitative program for swallowing and oral-motor movements in intensive care unit patients with the diagnosis of tetanus. Forty-five patients who were clinically diagnosed with tetanus were included in the study. Participants were divided in two groups: GI - consisted of 18 tetanus patients who were consecutively admitted to the infectious disease ICU from January 2002 to December 2005, prior to the existence of a systematic swallowing and oral-motor intervention; GII - consisted of 27 tetanus patients who were consecutively admitted to the infectious disease ICU from January 2006 to December 2009 and were submitted to a specific rehabilitative management of swallowing and of the oral-motor movements. Results indicate that the proposed rehabilitative program reduced by approximately 50% the time patients remained in the ICU. The significant improvement observed in patients with tetanus who were submitted to the rehabilitative program for swallowing and oral-motor movements occurred in conjunction with a reduction in the amount of time necessary to reintroduce oral feeding, to decannulate and to remove the feeding tubes. In conclusion, swallowing/muscle exercise, in patients with severe/very severe tetanus, seem to promote the remission of muscle tension and seem to maximize functional swallowing.