Maus-tratos infantis: um resgate da história e das políticas de proteção

O estudo apresenta uma revisão bibliográfica, cujo objetivo foi conhecer e divulgar a evolução histórica da violência contra a criança, bem como as políticas desenvolvidas na atenção à violência contra menores, além de discutir a importância da prevenção e da atuação dos profissionais de saúde. A pesquisa bibliográfica foi realizada na base de dados MEDLINE, LILACS e SciELO, selecionando-se os estudos com os descritores: Violência, Agressão, Maus-Tratos, Síndrome da Criança Maltratada, Pediatria, não se fazendo restrição aos idiomas espanhol, inglês e francês. A literatura mostra a importância de ações preventivas e a necessidade de discussões e reflexões entre os diferentes setores que possam culminar em políticas e estratégias preventivas, diagnósticas e terapêuticas, além da relevância de incluir o tema na formação dos profissionais de saúde para que possam contribuir para o diagnóstico, tratamento e profilaxia do abuso infantil, rompendo as cadeias de determinação e fatalidade.

Lung inflammation is induced by renal ischemia and reperfusion injury as part of the systemic inflammatory syndrome

Ischemia and reperfusion injury (IRI) are mainly caused by leukocyte activation, endothelial dysfunction and production of reactive oxygen species. Moreover, IRI can lead to a systemic response affecting distant organs, such as the lungs. The objective was to study the pulmonary inflammatory systemic response after renal IRI. Male C57Bl/6 mice were subjected to 45 min of bilateral renal ischemia, followed by 4, 6, 12, 24 and 48 h of reperfusion. Blood was collected to measure serum creatinine and cytokine concentrations. Bronchoalveolar lavage fluid (BALF) was collected to determine the number of cells and PGE(2) concentration. Expressions of iNOS and COX-2 in lung were determined by Western blot. Gene analyses were quantified by real time PCR. Serum creatinine increased in the IRI group compared to sham mainly at 24 h after IRI (2.57 +/- A 0.16 vs. 0.43 +/- A 0.07, p < 0.01). The total number of cells in BAL fluid was higher in the IRI group in comparison with sham, 12 h (100 x 10(4) +/- A 15.63 vs. 18.1x10(4) +/- A 10.5, p < 0.05) 24 h (124 x 10(4) +/- A 8.94 vs. 23.2x10(4) +/- A 3.5, p < 0.05) and 48 h (79 x 10(4) +/- A 15.72 vs. 22.2 x 10(4) +/- A 4.2, p < 0.05), mainly by mononuclear cells and neutrophils. Pulmonary COX-2 and iNOS were up-regulated in the IRI group. TNF-alpha, IL-1 beta, MCP-1, KC and IL-6 mRNA expression were up-regulated in kidney and lungs 24 h after renal IRI. ICAM-1 mRNA was up-regulated in lungs 24 h after renal IRI. Serum TNF-alpha, IL-1 beta and MCP-1 and BALF PGE(2) concentrations were increased 24 h after renal IRI. Renal IRI induces an increase of cellular infiltration, up-regulation of COX-2, iNOS and ICAM-1, enhanced chemokine expression and a Th1 cytokine profile in lung demonstrating that the inflammatory response is indeed systemic, possibly leading to an amplification of renal injury.

The effect of additional strengthening of hip abductor and lateral rotator muscles in patellofemoral pain syndrome: a randomized controlled pilot study

Objectives: To study the effect of additional strengthening of hip abductor and lateral rotator muscles in a strengthening quadriceps exercise rehabilitation programme for patients with the patellofemoral pain syndrome. Design: Randomized controlled pilot trial. Setting: Clinical setting with home programme. Participants: Fourteen patients with patellofemoral pain syndrome. Intervention: The subjects were randomly assigned to the intervention group (strengthening of quadriceps plus strengthening of hip abductor and lateral rotator muscles) or to the control group (strengthening of quadriceps). Both groups participated in a six-week home exercise protocol. Main outcome measures: The perceived pain symptoms, isokinetic eccentric knee extensor, hip abductor and lateral rotator torques and the gluteus medius electromyographic activity were assessed before and after treatment. Parametric and non-parametric tests were used to compare the groups before and after treatment with alpha = 0.05. Results: Only the intervention group improved perceived pain symptoms during functional activities (P=0.02-0.04) and also increased their gluteus medius electromyographic activity during isometric voluntary contraction (P=0.03), Eccentric knee extensors torque increased in both groups (P=0.04 and P=0.02). There was no statistically significant difference in the hip muscles torque in either group. Conclusion: Supplementation of strengthening of hip abductor and lateral rotator muscles in a strengthening quadriceps exercise programme provided additional benefits with respect to the perceived pain symptoms during functional activities in patients with patellofemoral pain syndrome after six weeks of treatment.

Extending the Phenotype of Monosomy 1p36 Syndrome and Mapping of a Critical Region for Obesity and Hyperphagia

Rearrangements of 1p36 are the most frequently detected abnormalities in diagnostic testing for chromosomal cryptic imbalances and include variably sized simple terminal deletions, derivative chromosomes, interstitial deletions, and complex rearrangements. These rearrangements result in the specific pattern of malformation and neurodevelopmental disabilities that characterizes monosomy 1p36 syndrome. Thus far, no individual gene within this region has been conclusively determined to be causative of any component of the phenotype. Nor is it known if the rearrangements convey phenotypes via a haploinsufficiency mechanism or through a position effect. We have used multiplex ligation-dependent probe amplification to screen for deletions of 1p36 in a group of 154 hyperphagic and overweight/obese, PWS negative individuals, and in a separate group of 83 patients initially sent to investigate a variety of other conditions. The strategy allowed the identification and delineation of rearrangements in nine subjects with a wide spectrum of clinical presentations. Our work reinforces the association of monosomy 1p36 and obesity and hyperphagia, and further suggests that these features may be associated with non-classical manifestations of this disorder in addition to a submicroscopic deletion of similar to 2-3 Mb in size. Multiplex ligation probe amplification using the monosomy 1p36 syndrome-specific kit coupled to the subtelomeric kit is an effective approach to identify and delineate rearrangements at 1p36. (C) 2009 Wiley-Liss, Inc.

Heterogeneity in the molecular basis of ACTH resistance syndrome

Objective: ACTH resistance syndromes are rare, autosomal, and genetically heterogeneous diseases that include familial glucocorticoid deficiency (FGD) and triple A syndrome. FGD has been shown to segregate with mutations in the gene coding for ACTH receptor (MC2R) or melanocortin 2 receptor accessory protein (MRAP), whereas mutations in the triple A syndrome (AAAS, Allgrove syndrome) gene have been found in segregation with triple A syndrome. We describe the clinical findings and molecular analysis of MC2R, MRAR and AAAS genes in five Brazilian patients with ACTH resistance syndrome. Design and methods: Genomic DNA from patients and their unaffected relatives was extracted from peripheral blood leucocytes and amplified by PCR, followed by automated sequencing. Functional analysis was carried out using Y6 cells expressing wild-type and mutant MC2R. Results: All five patients showed low cortisol and elevated plasma ACTH levels. One patient had achalasia and alacrima, besides the symptoms of adrenal insufficiency. The molecular analysis of FGD patients revealed a novel p.Gly116Val mutation in the MC2R gene in one patient and p.Met1Ile mutation in the MRAP gene in another patient. Expression of p.Glyll.6Val MC2R mutant in Y6 cells revealed that this variant failed to stimulate cAMP production. The analysis of the AAAS gene in the patient with triple A syndrome showed a novel g.782_783deITG deletion. The molecular analysis of DNA from other two patients showed no mutation in MC2R, MRAP or AAAS gene. Conclusions: In conclusion, the molecular basis of ACTH resistance syndrome is heterogeneous, segregating with genes coding for proteins involved with ACTH receptor signaling/expression or adrenal gland development and other unknown genes.

Síndrome do X Frágil com variante de Dandy-Walker: estudo clínico das manifestações comunicativas orais e escritas

A síndrome do X Frágil é a causa mais frequente de deficiência intelectual hereditária. A variante de Dandy-Walker trata-se de uma constelação específica de achados neurorradiológicos. Este estudo relata achados da comunicação oral e escrita de um menino de 15 anos com diagnóstico clínico e molecular da síndrome do X-Frágil e achados de neuroimagem do encéfalo compatíveis com variante de Dandy-Walker. A avaliação fonoaudiológica foi realizada por meio da Observação do Comportamento Comunicativo, aplicação do ABFW - Teste de Linguagem Infantil - Fonologia, Perfil de Habilidades Fonológicas, Teste de Desempenho Escolar, Teste Illinois de Habilidades Psicolinguísticas, avaliação do sistema estomatognático e avaliação audiológica. Observou-se: alteração de linguagem oral quanto às habilidades fonológicas, semânticas, pragmáticas e morfossintáticas; déficits nas habilidades psicolinguísticas (recepção auditiva, expressão verbal, combinação de sons, memória sequencial auditiva e visual, closura auditiva, associação auditiva e visual); e alterações morfológicas e funcionais do sistema estomatognático. Na leitura verificou-se dificuldades na decodificação dos símbolos gráficos e na escrita havia omissões, aglutinações e representações múltiplas com o uso predominante de vogais e dificuldades na organização viso-espacial. Em matemática, apesar do reconhecimento numérico, não realizou operações aritméticas. Não foram observadas alterações na avaliação audiológica periférica. A constelação de sintomas comportamentais, cognitivos, linguísticos e perceptivos, previstos na síndrome do X-Frágil, somada às alterações estruturais do sistema nervoso central, pertencentes à variante de Dandy-Walker, trouxeram interferências marcantes no desenvolvimento das habilidades comunicativas, no aprendizado da leitura e escrita e na integração social do indivíduo.

A inclusão da criança com Síndrome de Down na rede regular de ensino: desafios e possibilidades

O estudo teve como objetivo buscar evidências na literatura acerca da inclusão de crianças com Síndrome de Down na rede regular de ensino. Elaboraram-se revisão da literatura e busca dos artigos nas bases de dados PubMed e PsycINFO, utilizando as palavras-chave Down syndrome, schools, mainstreaming (education), education, infant, newborn, adolescent, child e preschool, no período de 1994 a 2007. Selecionaram-se oito artigos e sua análise permitiu a identificação do tema: experiências e recomendações para a inclusão. Os dados desta revisão, em sua maioria provenientes de relatos de experiências, indicaram que os fatores que colaboraram ou dificultaram o processo de inclusão da criança com síndrome de Down na rede regular de ensino relacionaram-se à escola, aos pais e ao professor. Os resultados deste estudo oferecem possibilidades para melhorar o processo de inclusão, apresentam os desafios e ainda apontam a necessidade do desenvolvimento de novas pesquisas, cujos resultados possam ser aplicados na prática.

Ventilação oscilatória de alta freqüência em pediatria e neonatologia

Este trabalho teve por objetivo rever a literatura e descrever a utilização da ventilação oscilatória de alta freqüência em crianças e recém-nascidos. Revisão bibliográfica e seleção de publicações mais relevantes sobre ventilação de alta freqüência utilizando as bases de dados MedLine e SciElo publicadas nos últimos 15 anos. As seguintes palavras-chave foram utilizadas: ventilação oscilatória de alta freqüência, ventilação mecânica, síndrome do desconforto respiratório agudo, crianças e recém-nascidos. Descreveu-se o emprego da ventilação oscilatória de alta freqüência em crianças com síndrome do desconforto respiratório agudo, síndrome de escape de ar e doença pulmonar obstrutiva. Avaliou em recém-nascidos, síndrome do desconforto respiratório, displasia broncopulmonar, hemorragia peri-intraventricular, leucoencefalomalácia e extravasamento de ar. Também, abordou a transição da ventilação mecânica convencional para a ventilação de alta freqüência e o manuseio específico da ventilação de alta freqüência quanto à oxigenação, eliminação de gás carbônico, realização de exame radiológico, realização de sucção traqueal e utilização de sedação e bloqueio neuromuscular. Foram abordados o desmame deste modo ventilatório e as complicações. Em crianças maiores a ventilação oscilatória de alta freqüência é uma opção terapêutica, principalmente na síndrome do desconforto respiratório agudo, devendo ser empregada precocemente. Também pode ser útil em casos de síndrome de escape de ar e doença pulmonar obstrutiva. Em recém-nascidos, não há evidências que demonstram superioridade da ventilação oscilatória de alta freqüência em relação à ventilação convencional, sendo a síndrome de escape de ar a única situação clínica em que há evidência de melhores resultados com este modo ventilatório.

Goodpasture`s syndrome

Goodpasture`s syndrome (GS) is an auto-immune disease that is part of the pulmonary-renal syndrome spectrum. It is characterized by the linear deposition of anti-glomerular basement membrane antibodies (anti-GBM) in glomerular and alveolar basement membrane, resulting in alveolar hemorrhage and progressive glomerulonephritis. An early diagnosis is important to decrease clinical morbidity. In the present work, we illustrate a GS case, initially diagnosed as Wegener`s granulomatosis.The patient showed favorable clinical evolution with corticosteroid therapy associated with plasmapheresis and cyclophosphamide.

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

We used an exome-sequencing strategy and identified an allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome, an autosomal dominant multisystem disorder characterized by severe and progressive bone loss. The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling.

Three-year-old child with meroacrania - Neurological signs

Neurological findings in a three-year-old child with meroacrania provide new insights into how the nervous system develops and functions in the absence of superior levels of control from the time of origin. The girl is the first child of a non-consanguineous white Brazilian couple, born at term, weighing 2650 g and measuring 44 cm in length. Upon examination at 43 months, she had quadriplegia, global hypotonia with occasional body hypertonia in a decorticate posture, hyperreflexia, ankle clonus, and extensor plantar response. This case allowed us to verify that, in the absence of upper structures and subcortical nuclei, there are clear signs that suggest corticospinal primacy in motor functions without a substitute pathway. Sound orientation responses suggest the independence of the vestibular-acoustic-ocular system, and manifestations of responsiveness to the environment raise questions about consciousness. (C) 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Carcinoid syndrome - Case report

Carcinoid tumors are rare neoplasms with, an estimated incidence of I to 2 cases per 100, 000 inhabitants. The malignant carcinoid syndrome, characterized by flushing, diarrhea, abdominal pain and, less frequently, pellagra, bronchospasm and valvular disease, occurs in less than 10% of patients. Nevertheless, in advanced stages of the disease, the incidence is about 40 to 50%. Retrospective studies and descriptive case series have shown that cutaneous involvement is relatively common but has rarely been reported. We present a case of carcinoid syndrome diagnosed with basis on skin findings on clinical examination.

Role of mixed Th1 and Th2 serum cytokines on pathogenesis and prognosis of hantavirus pulmonary syndrome

The hantavirus pulmonary syndrome (HPS) is an emerging syndrome in the Americas. The disease results from intense immune activation and changes in vascular permeability. The aim of this study was to determine the profile of serum cytokines in HPS patients looking for correlation with the clinical parameters, severity and outcome of illness. Studying 21 HPS patients, we found that IL-6 may have an important role in the pathogenesis of HPS, being associated with fatal outcome. Our results also support a mixed Th1/Th2 immune response during the course of HPS and that the magnitude of Th1 response effector cytokines is correlated to HPS severity. The decreased levels of TGF-beta observed in HPS patients suggest that immunoregulatory activity could be damaged in these patients. (c) 2008 Elsevier Masson SAS. All rights reserved.

Dilated cardiomyopathy in a case of Shwachman-Diamond syndrome

The Shwachman-Diamond syndrome is an autosomal recessive bone marrow failure syndrome with exocrine pancreatic insufficiency. Additional organ systems, such as the liver, heart and bone, may also be affected. We report a patient with a long history of cardiac failure and diagnosis of dilated cardiomyopathy with intermittent neutropenia. Periodic follow-up revealed progressive cardiac failure and pulmonary hypertension. A diagnosis of Shwachman-Diamond syndrome was made at the autopsy.

Holt-Oram syndrome: novel TBX5 mutation and associated anomalous right coronary artery

The Holt-Oram syndrome was confirmed in an asymptomatic 36-year-old man by a novel TBX5-gene mutation (exon 8 acceptor splicing site, c.663-1G greater than A). Computed tomography showed an atrial septal defect and an anomalous right coronary artery crossing between the aorta and pulmonary arteries. Surgery corrected the septal defect and the initial segment of the anomalous vessel was unroofed and enlarged. Anomalous coronary arteries were not previously described in the Holt-Oram syndrome patients and should be added to the list of possible associated cardiac defects.