Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth. The disease has a X-linked dominant inheritance pattern and is usually lethal to male fetuses. The dermatological findings occur in four successive phases, following the lines of Blaschko: First phase - vesicles on an erythematous base; second phase - verrucous hyperkeratotic lesions; third phase - hyperchromic spots and fourth phase - hypochromic atrophic lesions.
Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches. Purpose To investigate the ear abnormalities of a sample of patients with OAVS. Materials and methods The sample consisted of 12 patients with OAVS seen at the Clinical Genetics Unit, UFCSPA/CHSCPA. The study included only patients who underwent mastoid computed tomography and with normal karyotype. We performed a review of its clinical features, giving emphasis to the ear findings. Results Nine patients were male, the ages ranged from 1 day to 17 years. Ear abnormalities were observed in all patients and involved the external (n=12), middle (n=10) and inner ear (n=3). Microtia was the most frequent finding (n=12). The most common abnormalities of the middle ear were: opacification (n=2), displacement (n=2) and malformation of the ossicular chain. Agenesis of the internal auditory canal (n=2) was the most frequent alteration of the inner ear. Conclusions Ear abnormalities are variable in patients with OAVS and often there is no correlation between findings in the external, middle and inner ear. The evaluation of these structures is important in the management of individuals with OAVS.
Introduction Dysphagia causes changes in the laryngeal and stomatognathic structures; however, the use of vocal exercises is poorly described. Objective To verify whether the therapy consisting of myofunctional exercises associated with vocal exercises is more effective in rehabilitating deglutition in stroke patients. Methods This is a pilot study made up of two distinct groups: a control group, which performed only myofunctional exercises, and an experimental group, which performed myofunctional and vocal exercises. The assessment used for oral intake was the functional oral intake scale (FOIS). Results The FOIS levels reveal that the pre-therapy median of the experimental group was 4, and increased to 7 after therapy, while in the control group the values were 5 and 6 respectively. Thus, the experimental group had a statistically significant difference between the pre- and post-therapy assessments ( p = 0.039), which indicates that the combination of myofunctional and vocal exercises was more effective in improving the oral intake levels than the myofunctional exercises alone ( p = 0.059). On the other hand, the control group also improved, albeit at a lower rate compared with the experimental group; hence, there was no statistically significant difference between the groups post-therapy ( p = 0.126). Conclusion This pilot study showed indications that using vocal exercises in swallowing rehabilitation in stroke patients was able to yield a greater increase in the oral intake levels. Nevertheless, further controlled blind clinical trials with larger samples are required to confirm such evidence, as this study points to the feasibility of conducting this type of research.
O objetivo deste estudo foi verificar a ocorrência de disfagia após acidente vascular cerebral (AVC) isquêmico agudo durante as primeiras 48 horas de aparecimento dos sintomas para o estabelecimento de uma possível relação entre o nível de comprometimento neurológico e o grau de severidade da disfagia. Após a admissão hospitalar de emergência, três pacientes passaram por avaliação clínica neurológica, composta por exame físico geral, exame neurológico e aplicação da NationalInstitute of Health Stroke Scale (NIHSS); e avaliação clínica da deglutição por meio do Protocolo Fonoaudiológico de Avaliação do Risco para Disfagia (PARD). Dos pacientes avaliados, um apresentou deglutição funcional, com NIHSS 11, e dois apresentaram disfagia orofaríngea leve e moderada, sendo o NIHSS 15 e 19, respectivamente. O fluxo do serviço e a procura tardia dos pacientes por auxílio médico determinaram o baixo número de amostra. Os resultados obtidos confirmam os dados da literatura em relação à gravidade do paciente neurológico e à manifestação de disfagia.
We concluded that digital cervical auscultation was able to provide objective information about the swallowing process that could contribute to methodological standardization in children.
Objetivos identificar e descrever as dúvidas e dificuldades das gestantes e puérperas em relação à amamentação, além de compará-las nos períodos pré-natal e puerperal. Métodos caracteriza-se por um estudo transversal, descritivo e comparativo, composto por dois grupos: gestantes e puérperas. Houve a aprovação do Comitê de Ética em Pesquisas / Santa Casa sob nº 23355. Para coleta elaborou-se questionário com perguntas sobre aleitamento materno. As variáveis foram analisadas por meio de associações entre as respostas dos grupos com a utilização dos testes Qui-Quadrado de Pearson, Exato de Fisher e T de Student. Resultados as puérperas apresentaram maior escore de conhecimento geral quando comparadas às gestantes (p = 0,001). Ao relacionar a idade com o conhecimento, quanto maior a idade da puérpera maior o percentual de conhecimento (r= 0, 283; p=0,011). Ao analisar as puérperas primíparas, observou-se que estas apresentavam mais queixas quando comparadas com as que já possuíam um ou mais filhos (p= 0,014). Conclusões gestantes, mulheres primíparas, adolescentes e jovens possuem mais dúvidas e dificuldades em relação ao aleitamento materno. A equipe assistencial deve estar preparada para que a gestante tenha o trato correto com suas mamas e conscientização sobre a amamentação natural, para assim chegar ao período puerperal mais segura e incentivada ao aleitamento exclusivo.
Purpose to verify the efficacy of speech therapy in the early return of oral intake in patients with post-orotracheal intubation dysphagia. Methods It was a double-blinded randomized controlled trial for two years with patients of intensive care units of a hospital. Study inclusion criteria were orotracheal intubation>48hours, age≥18 years old, clinical stability, and dysphagia. Exclusion criteria were tracheotomy, score 4 to 7 in the Functional Oral Intake Scale (FOIS), neurological disorders. Patients were randomized into speech treatment or control group (ten days of follow-up). The treated group (TG) received guidance, therapeutic techniques, airway protection and maneuvers, orofacial myofunctional and vocal exercises, diet introduction; the control group (CG) received SHAM treatment. Primary outcomes were oral intake progression, dysphagia severity, and tube feeding permanence. Results In the initial period of study, 240 patients were assessed and 40 (16.6%) had dysphagia. Of this, 32 patients met the inclusion criteria, and 17 (53%) received speech therapy. Tube feeding permanence was shorter in TG (median of 3 days) compared to CG (median of 10 days) (p=0.004). The size effect of the intervention on tube feeding permanence was statistically significant between groups (Cohen's d=1.21). TG showed progress on FOIS scores compared to CG (p=0.005). TG also had a progression in severity levels of Dysphagia protocol (from moderate to mild dysphagia) (p<0.001). Conclusion Speech therapy favors an early progression of oral intake in post-intubation patients with dysphagia. Clinical Trial Registration: RBR-9829jk.
OBJETIVO: avaliar recém-nascidos prematuros durante a primeira oferta de seio materno em uma Unidade de Terapia Intensiva neonatal. MÉTODOS: foram avaliadas 15 díades mãe/recém-nascido durante a primeira oferta de seio materno na Unidade de Terapia Intensiva neonatal da Maternidade Mario Totta, no Hospital Santa Clara da Irmandade da Santa Casa de Misericórdia de Porto Alegre. A coleta ocorreu em três partes: 1ª) Consulta ao prontuário do recém-nascido e preenchimento de um formulário. 2ª) Aplicação de um questionário estruturado às mães. 3ª) Avaliação da primeira oferta de seio materno aplicando o Formulário de Avaliação Fonoaudiológica das mamadas. RESULTADOS: 46,7% dos recém-nascidos apresentaram a prematuridade como único motivo de internação, 60% já estavam em acompanhamento fonoaudiológico antes de iniciarem o aleitamento materno. A média de idade das mães foi 29,27 +/- 8,058 anos e 40% delas afirmou terem relacionamento estável com o pai do recém-nascido. Foi verificado que quanto maior a idade gestacional corrigida do recém-nascido, melhor as condições de pega e ordenha ao seio materno e classificação final da mamada, assim como, quanto mais dias de vida o recém-nascido tem, melhor a pega ao seio materno. CONCLUSÃO: a prematuridade foi o principal obstáculo para o aleitamento materno, porém, as características positivas das mães, como grau de escolaridade, estado civil, experiência prévia em aleitamento materno, e atendimento fonoaudiológico iniciado antes do aleitamento materno em grande parte dos RN, podem ter proporcionado bons resultados na primeira oferta de seio materno.
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