992 resultados para Síndrome de Prader-Willi


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Patients with Down syndrome have shown different conditions of oral health, and there is a low occurrence of dental caries and a higher susceptibility to periodontal diseases. Thus, this study aimed to evaluate the prevalence of dental caries and periodontal diseases in subjects with Down syndrome. The population was composed of 40 patients with the syndrome, aged 6 to 18 years, of both genders, and an equal number of non-syndromic patients. The periodontal conditions were evaluated by mean of the criteria of PSR and dental conditions were registered following indexes dmft and DMFT. It was found that in children with Down syndrome, the dmft index was 1.17 and DMFT 3.53 while the control group was verified dmft 1.97 and DMFT 2.77. The results of PSR evidenced that 32.5% of children with Down syndrome were periodontally healthy, 65% were gingivitis patients and 2.5% were periodontitis patients, while in the control group, 50% healthy and 50% were gingivitis patients. The results evidenced similar populations of cariogenic cocci between patients with Down syndrome and non-syndromic subjects. It was concluded that the incidence of caries in children with Down syndrome was higher in permanent teeth compared with the control group, while in the occurrence of deciduous teeth caries was slightly higher in the control group, so when children with Down syndrome are subjected to periodic examinations, they present themselves periodontally healthy.

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Obstructive Sleep Apnea Syndrome (OSAS) is characterized by snoring and / or repetitive pauses in breathing during sleep associated with hypoxemia and hypercapnia. Affects approximately 1-3% of children, especially preschoolers. There is an association of OSAS with negative impact on neurocognitive development. However, there are few studies using protocols to assess cognition and behavioral disorders in children with OSAS. The objective of this study was to analyze the major studies related to the topic within the last two decades. The main studies published between 1995 to 2011 were identified through MEDLINE and LILACS databases. We selected the most relevant for OSAS in children, neurocognitive effects and association between obstructive disorders / OSAS in the target population (children). It was concluded that the studies analyzed showed that there is strong evidence regarding the overlapping of OSAS in children with neurocognitive disorders and that treatment of OSAS has positive impact on neurocognitive development.

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Costen’s syndrome is defined as a set of auditory signs and symptoms in patients with TMD. It is characterized by ear fullness, hearing loss, tinnitus, ear pain and vertigo with nystagmus.It has predilection for females and fourth decade of life. The multidisciplinary monitoring of these patients is imperative in its recognition and the establishment of effective therapy. In this paper we report a case of Costen’s Syndrome patient whose treatment consisted of advice on the etiology of the disorder and weekly sessions of acupuncture. The clinical features that led to the diagnosis and treatment plan, and the effectiveness of acupuncture as supportive therapy were also discussed.

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The syndrome of burning Bucal (SAB) is a condition where the absence of signs found in most cases, its diagnosis difficult. In order to classify the pathophysiology of SAB, and the search for their treatment, are the main goals of this work.

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The most common sleep disorder is obstructive sleep apnea syndrome (OSAS), that is characterized by repeated pauses in breathing during sleep, resulting in partial or complete obstruction of the upper airway. It is associated with systemic arterial hypertension and obesity. Objective: To assess the frequency of OSAS in the adult population of Botucatu by the Berlin questionnaire. Method: Transveral study was performed in which the sample size was estimated at 385 individuals. The Berlin questionnaire was administered to adults randomly on the streets, supermarkets and local shops. Data were analyzed taking into account age, gender, "high risk for OSAS", hypertension, obesity and correlations for OSAS. Results: 468 people interviewed were aged between 18 and 95 years, average of 59 years. 166 (35.25%) individuals were identified as "high risk for OSAS", being more frequent in the population above 40 years. Obesity was present in 23.3%, more common in women (60.2%). 83.5% of the population obese also had a "high risk for OSAS". Hypertension was observed in 27.3%, of these 71.9% were at "high risk for OSAS". Conclusion: The study showed a high frequency of "high risk for OSAS" in the adult population. Despite the dissemination by the media about sleep apnea, patients are not investigated, even under medical care for hypertension.

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Os pacientes com síndrome de Down têm mostrado diferentes condições de saúde bucal, destacando-se uma baixa ocorrência de cárie e maior suscetibilidade às doenças periodontais. Assim, o presente estudo objetivou avaliar a prevalência de cárie, patologias periodontais e níveis de cocos cariogênicos em portadores de Síndrome de Down. A população foi constituída de 40 pacientes portadores da síndrome, com idade de 6 a 18 anos, de ambos os gêneros, e igual número de pacientes do grupo controle, os quais foram submetidos ao exame clínico periodontal segundo os critérios do PSR e para determinação do índice de cárie empregando-se os índices ceo-d e CPOD, e avaliação dos níveis de cocos cariogênicos através do real-time PCR. Verificou-se que nas crianças com síndrome de Down o índice médio ceo-d foi 1,17 e o CPO-D 3,53 enquanto que no grupo controle foi observado ceo-d 1,97 e o CPO-D 2,77. Verificou-se que 32,5% das crianças com síndrome de Down eram saudáveis, 65% com gengivite e 2,5% com periodontite e, no grupo controle, 50% foram saudáveis e 50% mostraram gengivite. Os resultados evidenciaram que a população de cocos cariogênicos foi similar entre pacientes portadores ou não de síndrome de Down. Concluiu-se que a ocorrência de cárie em crianças com síndrome de Down foi maior nos dentes permanentes comparadas com o grupo controle, enquanto que na dentição decídua a ocorrência de cárie foi maior no grupo controle, enquanto que as condições periodontais foram semelhantes entre os dois grupos.

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Patients with Down syndrome have varying degrees of mental retardation, physical and motor, and apparently are more susceptible to infectious diseases. Thus, the present study aimed to evaluate the occurrence of Aggregatibacter actinomycetemcomitans in saliva and subgingival biofilms and above of children and adolescents with Down syndrome and analyze the influence of diet, socioeconomic and cultural factors and periodontal condition. After assessing the socio-economic and behavioral, were collected clinical specimens, which were transported to the laboratory of Microbiology and Immunology FOA-UNESP for detection of microorganisms by molecular method and periodontal conditions were evaluated according to the Periodontal Screening Index and Recording. The control group consisted of individuals without the syndrome. The results were analyzed by chi-square test for proportion analysis of variables with three or more categories, or the Mann-Whitney test. The data analysis of this study showed that the occurrence of A. actinomycetemcomitans ranged from 0.0% to 25.0%, both in the group of patients with Down syndrome, as for the control group and this was not affected by socioeconomic characteristics of the target population, either by oral hygiene standards

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Studies show that children with Down’s syndrome have deficits in social skills, which can interfere in their social interactions and also in their academic performance. The aim of this study was to analyze the clinical significance and reliable change in repertory of social skills of a child with Down’s syndrome, from interventions in the clinic, at home and at school. A seven year old girl with Down’s Syndrome who had frequented the first year of regular school, her parents and her teacher participated in this study. They were attending in a Center of Applied Psychology, of a public university in São Paulo State. Before and after the intervention parents and teacher answered the Rating System Social Skills (SSRS). The intervention with the child had been conducted for six months, through playful activities in weekly meetings. It was discussed various topics related to social skills with parents and teacher in biweekly and monthly meetings. The results were analyzed using JT method. With parents, comparing the two assessments conducted, the data pointed to positive change reliable for four of the six skills assessed. Of the five skills assessed by the teacher, one of them was not in the clinical level since the first application. The other two went from clinical to non-clinical level, featuring reliable positive change. The study showed the importance of pre and post measures in case study, enabling the assessment of the effects of the intervention performed on the various factors of social skills. Further studies with larger populations may ratify the data obtained.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Damage to health caused by excess body fat also generating a negative economic impact, with significant increase in public spending. The metabolic syndrome, which also gets several other names, such as plurimetabolic syndrome or syndrome X, is nothing more than the combined incidence of some diseases or metabolic disorders in which obesity, besides being one of them, seems to promote parallel effects that contribute to the development of other chronic diseases such as diabetes and cardiovascular disease. Researchers agree that hyper caloric diets associated with a sedentary lifestyle are the main triggers of disease, including the increasing on genetic predisposition to this disease in children and adolescents. In the case of children and adolescents the diagnosis is complicated by the lack of a consensus accepted by the scientific community. In addition to behavioral and environmental factors unfavorable to health, in a more detailed analysis also found hereditary aspects or simply genetic, such as hepatic enzyme Butyrylcholinesterase. When compared to eutrophic, obese adolescents, like adults obese, have higher serum concentration values as well as major activity for this enzyme. Increasing evidence suggests that excess body weight assumes an important role in the variation of metabolic functions in adolescents, favoring the emergence of early diagnostic indicators of metabolic syndrome.

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Contexto: É descrita uma síndrome congênita rara e suas manifestações típicas visando seu diagnóstico precoce. Descrição do caso: Pacientedo sexo feminino, com 15 anos de idade, com glaucoma congênito em acompanhamento pelo Serviço de Oftalmologia da UniversidadeEstadual Paulista (Unesp) foi encaminhada ao Serviço de Dermatologia com um ano de idade devido a manchas eritêmato-violáceasextensas distribuídas nos dois terços superiores da hemiface esquerda e em outras localidades do corpo desde o nascimento. A mãerelatava convulsões desde um ano e atraso do desenvolvimento neuropsicomotor. Nos antecedentes familiares, negava casos semelhantes.O diagnóstico da Síndrome de Sturge-Weber foi estabelecido pelo quadro clínico característico e pelos exames complementares quedemonstraram, no sistema nervoso central, atrofia e calcificação corticais, além de alterações oftalmológicas como glaucoma e buftalmo.Discussão: A síndrome de Sturge-Weber ocorre em 1 a cada 20.000 a 50.000 nascidos vivos e é caracterizada por malformações vascularesmanifestadas por manchas eritêmato-violáceas, mais conhecidas como manchas vinho do Porto , localizadas no território do ramooftálmico do nervo trigêmeo, com acometimento neurológico e possível acometimento ocular. O prognóstico depende das complicaçõesneurológicas, as quais não guardam relação com a extensão das lesões cutâneas. Conclusões: Relata-se afecção rara, cujo diagnósticoprecoce direciona o acompanhamento multidisciplinar.

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Contexto: É descrito caso clínico de farmacodermia grave e de alta letalidade, cujo reconhecimento imediato é fundamental. Relato decaso: Paciente do sexo masculino de três anos de idade, cuja mãe refere histórico de crises convulsivas, consultou-se com neurologistaparticular, que prescreveu ácido valproico. Uma semana depois, voltou a ter crise convulsiva, sendo então introduzida lamotrigina.Poucos dias depois, a criança começou apresentar tosse e coriza hialina. Procurou pronto-socorro de sua cidade e foi orientada a usarfluimucil. Iniciou, então, febre e exantema máculo-papular inicialmente na face, que depois se generalizou. Foi levantada a hipótesediagnóstica de farmacodermia secundária à associação de anticonvulsivante. Discussão: Síndrome de Stevens-Johnson e necróliseepidérmica tóxica são variantes do mesmo processo mucocutâneo agudo, raro e grave, causado principalmente por reação adversaa fármacos e caracterizado por erupção cutânea macular de padrão eritematoso, formação de bolhas de conteúdo sero-hemático edestacamento epidérmico. As afecções são diferenciadas pela porcentagem de superfície corpórea acometida, sendo menor que10% na síndrome de Stevens-Johnson, e maior que 30% na necrólise epidérmica tóxica. O prognóstico pode ser estimado através doescore Severity Illness Score for Toxic Epidermal Necrolysis (SCORTEN), que prevê mortalidade de até 90% para os casos mais graves.O tratamento consiste na interrupção imediata da droga, transferência do paciente para unidade de queimados ou unidade de terapiaintensiva, e medidas de suporte. Terapias adjuvantes, como imunoglobulinas intravenosas e corticosteroides, ainda não têm papelconsolidado na literatura. Conclusões: Relata-se afecção rara e extremamente grave cuja suspeição clínica é importante na conduçãodo tratamento.

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Contexto: A síndrome de Gorlin ou síndrome do nevo basocelular é desordem autossômica dominante causada por mutação no gene Patched, que faz parte da via de sinalização Hedgehog. Descrição do caso: O paciente descrito tem 67 anos, apresenta múltiplos carcinomas basocelulares com início desde os 17 anos, além de cistos odontogênicos, escoliose dorsal, pits palmoplantares, hipertelorismo e macrocefalia. Discussão: A síndrome é manifestada pela tríade de múltiplos carcinomas basocelulares, tumores odontogênicos ceratocísticos e anomalias esqueléticas. Outras alterações orgânicas podem estar presentes, sendo o meduloblastoma, tumor maligno da fossa posterior, causa potencial de morte. Conclusão: O diagnóstico precoce é importante para que terapias menos agressivas sejam realizadas. O tratamento envolve equipe multidisciplinar e o aconselhamento genético é mandatório.

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Cognitive dysfunction syndrome (CDS) is a progressive degenerative disorder of older dogs, characterized by a decline in cognitive function. The main clinical signs consistent with CDS are: disorientation, changes in socio-environmental interaction, sleep-wake cycle disturbance, changes in hygiene habits, urinate and/or defecate in unusual places, decreased physical activity, anxiety and eating disorders. There are no specific diagnostic tests for this condition in vivo, but alterations in neurological examination, cognitive tests and magnetic resonance imaging can be observed. The diagnosis is confirmed by histopathological examination of brain tissue. Diets rich in antioxidants, environmental enrichment with exercise and the use of selegiline and L-deprenyl have been recommended for the treatment of CDS.