Correction of pectus excavatum combined with open heart surgery in a patient with Marfan's syndrome.

We report a patient with Marfan's syndrome and pectus excavatum who underwent open heart surgery with simultaneous correction of the sternal malformation. Permanent internal stabilization, achieved by bilateral overlapping of the bevelled ends of the lowest ribs and reinforced with sternal closure wires offered a maintained postoperative chest wall stability, avoided the potential postoperative complications of cardiac compression, and improved the aesthetic appearance of the anterior chest wall. The increased risk of bleeding due to extensive dissection was minimized by postponing the repair of pectus excavatum to when protamin is administered after termination of cardiopulmonary bypass.

Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome

Background: Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS patients are unclassified. Reports on the pathogenicity of the c.1852_1853AA>GC (p.Lys618Ala) variant of the MLH1 gene are conflicting. In this study, we provide new evidence indicating that this variant has no significant implications for LS.Methods: The following approach was used to assess the clinical significance of the p.Lys618Ala variant: frequency in a control population, case-control comparison, co-occurrence of the p.Lys618Ala variant with a pathogenic mutation, co-segregation with the disease and microsatellite instability in tumours from carriers of the variant. We genotyped p.Lys618Ala in 1034 individuals (373 sporadic colorectal cancer [CRC] patients, 250 index subjects from families suspected of having LS [revised Bethesda guidelines] and 411 controls). Three well-characterized LS families that fulfilled the Amsterdam II Criteria and consisted of members with the p.Lys618Ala variant were included to assess co-occurrence and co-segregation. A subset of colorectal tumour DNA samples from 17 patients carrying the p.Lys618Ala variant was screened for microsatellite instability using five mononucleotide markers.Results: Twenty-seven individuals were heterozygous for the p.Lys618Ala variant; nine had sporadic CRC (2.41%), seven were suspected of having hereditary CRC (2.8%) and 11 were controls (2.68%). There were no significant associations in the case-control and case-case studies. The p.Lys618Ala variant was co-existent with pathogenic mutations in two unrelated LS families. In one family, the allele distribution of the pathogenic and unclassified variant was in trans, in the other family the pathogenic variant was detected in the MSH6 gene and only the deleterious variant co-segregated with the disease in both families. Only two positive cases of microsatellite instability (2/17, 11.8%) were detected in tumours from p.Lys618Ala carriers, indicating that this variant does not play a role in functional inactivation of MLH1 in CRC patients.Conclusions: The p.Lys618Ala variant should be considered a neutral variant for LS. These findings have implications for the clinical management of CRC probands and their relatives.

Hypothalamus transcriptome profile suggests an anorexia-cachexia syndrome in the anx/anx mouse model

The anx/anx mouse displays poor appetite and lean appearance and is considered a good model for the study of anorexia nervosa. To identify new genes involved in feeding behavior and body weight regulation we performed an expression profiling in the hypothalamus of the anx/anx mice. Using commercial microarrays we detected 156 differentially expressed genes and validated 92 of those using TaqMan low-density arrays. The expression of a set of 87 candidate genes selected based on literature evidences was also quantified by TaqMan low-density arrays. Our results showed enrichment in deregulated genes involved in cell death, cell morphology and cancer as well as an alteration of several signaling circuits involved in energy balance including neuropeptide Y and melanocortin signaling. The expression profile along with the phenotype led us to conclude that anx/anx mice resemble the anorexia-cachexia syndrome typically observed in cancer, infection with human immunodeficiency virus or chronic diseases, rather than starvation, and that anx/anx mice could be considered a good model for the treatment and investigation of this condition.

Vivências e perspectivas maternas na internação do filho prematuro em Unidade de Tratamento Intensivo Neonatal

O estudo teve o objetivo de apreender o motivo para a permanência materna no hospital durante a internação do filho prematuro em Unidade de Terapia Intensiva Neonatal. A pesquisa foi realizada com doze mães de recém-nascidos prematuros numa maternidade municipal do Rio de Janeiro em 2007. Adotou-se como suporte metodológico a Fenomenologia Sociológica de Alfred Schütz. A entrevista fenomenológica foi utilizada para captar o discurso das mães, cuja ação intencional foi desvelada mediante as seguintes categorias: Cuidar do filho - enfrentando o desafio de ter um pequeno bebê; Ficar perto do filho prematuro - a presença materna contribuindo para a sua recuperação mais rápida; Ajuda recíproca entre as mães - é a esperança reforçada a cada dia. O alojamento de mães destaca-se como iniciativa inovadora e relevante durante a internação dos filhos prematuros, sendo considerado um espaço de convivências, troca de experiências e apoio mútuo, na longa e difícil permanência hospitalar.

Avaliação do diagnóstico da sepse neonatal: uso de parâmetros laboratoriais e clínicos como fatores diagnósticos

Objetivou-se descrever e comparar as características clínicas, laboratoriais e assistenciais de RN que apresentaram sepse comprovada tardia e de RN que apresentaram sepse não comprovada tardia. Em seguida, avaliar se houve diferença entre os grupos, além de descrever os germes prevalentes na unidade neonatal estudada. Estudo descritivo, envolvendo 168 casos. Observou-se que 33,3% tiveram sepse tardia provada. A idade no momento da sepse, o tempo total de internação, a quantidade total de neutrófilos, a quantidade de neutrófilos imaturos e o valor da PC-r mostraram bons parâmetros na diferenciação entre os dois grupos quando analisados de forma isolada. A Klebisiella pneumoniae, o Staphylococcus coagulase negativo e o S. aureus foram as bactérias mais comumente isoladas.

O processo de trabalho em uma Unidade de Terapia Intensiva Neonatal

Este estudo teve como objetivo analisar a organização do processo de trabalho em uma Unidade de Terapia Intensiva Neonatal através das relações estabelecidas entre os atores sociais presentes no espaço micropolítico. Trata-se de uma metodologia não-convencional, adaptada a estudo qualitativo. Adotou-se um estudo de série de casos cuja trajetória foi denominada trajetória-sentinela e, através desta foram, detectados ruídos que influenciaram na qualidade da assistência. A análise do fluxograma revelou fragilidades na rede de contratualidade, problemas de registros e arquivamento de documentação e, erros relativos ao processo assistência.

Neonatal Minimally Invasive Surgery for Congenital Diaphragmatic Hernias: a multicenter study using thoracoscopy or laparoscopy.

BACKGROUND: Minimally invasive surgery (MIS) for late-presenting congenital diaphragmatic hernia (CDH) has been described previously, but few neonatal cases of CDH have been reported. This study aimed to report the multicenter experience of these rare cases and to compare the laparoscopic and thoracoscopic approaches. METHODS: Using MIS procedures, 30 patients (16 boys and 14 girls) from nine centers underwent surgery for CDH within the first month of life, 26 before day 5. Only one patient had associated malformations. There were 10 preterm patients (32-36 weeks of gestational age). Their weight at birth ranged from 1,800 to 3,800 g, with three patients weighing less than 2,600 g. Of the 30 patients, 18 were intubated at birth. RESULTS: The MIS procedures were performed in 18 cases by a thoracoscopic approach and in 12 cases by a laparoscopic approach. No severe complication was observed. For 20 patients, reduction of the intrathoracic contents was achieved easily with 15 thoracoscopies and 5 laparoscopies. In six cases, the reduction was difficult, proving to be impossible for the four remaining patients: one treated with thoracoscopy and three with laparoscopy. The reasons for the inability to reduce the thoracic contents were difficulty of liver mobilization (1 left CDH and 2 right CDH) and the presence of a dilated stomach in the thorax. Reductions were easier for cases of wide diaphragmatic defects using thoracoscopy. There were 10 conversions (5 laparoscopies and 5 thoracoscopies). The reported reasons for conversion were inability to reduce (n = 4), need for a patch (n = 5), lack of adequate vision (n = 4), narrow working space (n = 1), associated bowel malrotation (n = 1), and an anesthetic problem (n = 1). Five defects were too large for direct closure and had to be closed with a patch. Four required conversion, with one performed through video-assisted thoracic surgery. The recurrences were detected after two primer thoracoscopic closures, one of which was managed by successful reoperation using thoracoscopy. CONCLUSIONS: In the neonatal period, CDH can be safely closed using MIS procedures. The overall success rate in this study was 67%. The indication for MIS is not related to weeks of gestational age, to weight at birth (if >2,600 g), or to the extent of the immediate neonatal care. Patients with no associated anomaly who are hemodynamically stabilized can benefit from MIS procedures. Reduction of the herniated organs is easier using thoracoscopy. Right CDH, liver lobe herniation, and the need for a patch closure are the most frequent reasons for conversion.

A percepção do acompanhante sobre a humanização da assistência em uma unidade neonatal

O objetivo deste estudo foi conhecer a percepção das mães acompanhantes na unidade neonatal em relação às ações humanizadoras. Trata-se de uma pesquisa exploratória descritiva, com enfoque qualitativo, desenvolvido na unidade neonatal do Hospital da Universidade de São Paulo com as acompanhantes dos bebês que permaneceram internados a partir do quinto dia de vida até a alta hospitalar. O período estudado foram os meses de outubro de 2007 a janeiro de 2008. Foram realizadas 18 entrevistas, analisadas segundo o referencial de Bardin, o que permitiu a construção das categorias: assistência recebida, relacionamento com os profissionais e condições institucionais. Constatou-se satisfação quanto à assistência recebida e ao apoio da equipe, mas foram apontadas necessidades de mudanças na estrutura física do setor, para proporcionar uma assistência mais humanizada.

Nível de pressão sonora em Unidade de Terapia Intensiva Neonatal

Os objetivos deste estudo foram verificar o nível de pressão sonora (NPS) de duas salas de Unidade de Terapia Intensiva Neonatal (UTIN) e identificar as suas fontes. É uma pesquisa quantitativa, descritiva, conduzida em duas salas de UTIN de hospital universitário de São Paulo - SP, Brasil. Registros de NPS foram realizados por três dosímetros, totalizando 261 horas de mensuração. Obteve-se 48 horas de registros das fontes que produzem ruídos. Os resultados indicam elevados níveis de pressão sonora nos dois ambientes. Os maiores níveis de Leq foram 71,0 dBA na sala A e 68,0 dBA na sala B. As principais fontes de ruído encontradas nas duas unidades foram ruído no corredor, trânsito e conversa entre os profissionais. Os resultados revelam que os NPS das salas da UTIN estão distantes dos recomendados pelos órgãos regulamentadores. Foi desenvolvido um protocolo e implementado um programa educativo, visando à redução dos níveis de pressão sonora.