Mobius Sequence in a Girl and Arthrogryposis in her Half-Brother: Distinct Phenotypes Caused By Prenatal Injuries

Mobius sequence is a congenital facial and abducens nerve palsy, frequently associated to abnormalities of extremities. Arthrogryposis multiplex congenital is defined as a congenital fixation of multiple joints seldom of neurogenic origin. Both sequences must have a genetic origin, but usually are sporadic cases related to environmental factors such as drugs exposition and maternal trauma. A 5-year-old girl and a 1-year-old boy were born with Mobius sequence and arthrogryposis multiplex congenital, respectively. During pregnancies, the mother had vaginal bleeding at 7 weeks and used crack (free-based cocaine) in the first trimester, respectively. The girl also has equinovarus talipes and autistic behavior. The boy has arthrogryposis with flexion contractures of the feet and knees. A vascular disruption, due to hemorrhage and cocaine exposure, causing a transient ischemic insult to embryos in a critical period of development may be responsible for distinct phenotypes in these cases.

Unusual Presentation of Brain Aspergillosis in Chronic Granulomatous Disease

Aspergillus is a frequently observed pathogen in patients with chronic granulomatous disease. We report on a patient with chronic granulomatous disease and severe brain aspergillosis with an unusual presentation and favorable course. We discuss the impact of this infection on morbidity and mortality, adequate therapeutic management, and the need to investigate a possible fungal infection, despite nonspecific signs. (C) 2010 by Elsevier Inc. All rights reserved.

Prolonged Physical Training Decreases mRNA Levels of Glucocorticoid Receptor and Inflammatory Genes

Background/Aims: Prolonged physical exercise induces adaptive alterations in the hypothalamic-pituitary axis, increasing cortisol metabolism, and reducing cortisol synthesis and glucocorticoid sensitivity. The mechanisms responsible for this relative glucocorticoid resistance remain unknown but may involve expression of genes encoding glucocorticoid receptor (GR) and/or inflammatory molecules of nuclear factor kappa B1 (NFkB1) signaling pathway and cytokines. This study aimed to determine the impact of prolonged physical training on the expression of genes involved in glucocorticoid action and inflammatory response. Methods: Normal sedentary male cadets of the Brazilian Air Force Academy were submitted to 6 weeks of standardized physical training. Eighteen of 29 initially selected cadets were able to fully complete the training program. Fasting glucose, insulin and cortisol levels, cytokine concentration and the expression of genes encoding GR, NFkB1, inhibitor of NFkB1 and IkB kinase A were determined before and after the training period. Results: Prolonged physical exercise reduced the basal cortisol levels and the percent cortisol reduction after dexamethasone. These findings were associated with a significant reduction in the mRNA levels of GR (6.3%), NFkB1 (63%), inhibitor of NFkB1 (25%) and IkB kinase A (46%) with concomitant reduction in cytokine concentrations (ELISA). Conclusions: Prolonged physical training decreases the glucocorticoid sensitivity and the mRNA levels of the GR gene combined with decreased mRNA of genes related to the NFkB pathway. Copyright (C) 2010 S. Karger AG, Basel

Transfer of antibodies across the placenta and in breast milk from mothers on intravenous immunoglobulin

We studied the levels of immunoglobulins in colostrum, milk and sera from two common variable immunodeficiency (CVID) mothers (M1 and M2), and in sera from their newborn infants. During pregnancy they continued intravenous immunoglobulin therapy (IVIG). Antibody levels from maternal and cord blood collected at delivery and colostrum and milk, collected on the 3rd and 7th post-partum days, respectively, were analyzed. Although cord/maternal blood ratios of total immunoglobulins and subclasses, as well as specific antibodies differed between M1 and M2, both showed good placental transfer of anti-protein and anti-polysaccharide antibodies, despite lower cord/maternal blood ratios in M2. Anti-Streptococcus pneumoniae antibody avidity indexes were similar between paired maternal and cord serum. Both mothers` colostrum and milk samples showed only traces of IgA, and IgM and IgG levels in colostrum were within normal range in M1, whereas M2 presented elevated IgG and low IgM levels, when compared with healthy mothers. The study of colostrum and milk activity showed that they strongly inhibited enteropathogenic Escherichia coli adhesion in vitro. CVID patients must be informed about the relevance of regular IVIG administration during pregnancy, not only for their own health but also for their immune immature offspring. Breast-feeding should be encouraged as colostra from these CVID patients strongly inhibited E. coli adhesion to human epithelial cells thus providing immunological protection plus nutritional and psychological benefits for the infant.

Some factors associated with dental caries in the primary dentition of children with Down syndrome

Aim It is well reported in the scientific literature that there is a high level of periodontal disease and lower caries prevalence in Down Syndrome (DS) individuals, when compared with age-matched non DS individuals. This study was conducted to investigate the process of dental caries in DS children. Materials and methods In this study the following parameters were considered: oral hygiene habits, levels of Streptococcus mutans (SM) and Lactobacillus spp. (LB), Modified Gingival Index (MGI), and Simplified Oral Hygiene Index (OHI-S). A case group with DS children (n=69) and a control group of non DS children (n=69) were formed to perform this study Dental caries severity was determined using the DMFT index. Samples of non-stimulated saliva were collected to determine the Lactobacillus spp levels. For SM levels, MSB agar plates were used. Results The findings revealed that the case group attended, dental check-ups more frequently brushed their teeth more times per day, flossed less, and also more frequently had SM levels classified as ""high count"". The MGI was higher and the OHI-S was lower than the control group (p<0.001). Conclusion No significant differences were found between the DMFT indexes of children from the two groups (p=0.345). The logistic regression analysis showed that in the case group, age, MGI, and SM count were positively related to dental caries (p<0.05).

Hospital-based Surveillance to Evaluate the Impact of Rotavirus Vaccination in Sao Paulo, Brazil

Background: Brazil implemented routine immunization with the human rotavirus vaccine, Rotarix, in 2006 and vaccination coverage reached 81% in 2008 in Sao Paulo. Our aim was to assess the impact of immunization on the incidence of severe rotavirus acute gastroenteritis (AGE). Methods: We performed a 5-year (2004-2008) prospective surveillance at a sentinel hospital in Sao Paulo, with routine testing for rotavirus in all children less than 5 years of age hospitalized with AGE. Genotypes of positive samples were determined by reverse transcription polymerase chain reaction. Results: During the study, 655 children hospitalized with AGE were enrolled; of whom 169 (25.8%) were positive for rotavirus. In the post-vaccine period, a 59% reduction in the number of hospitalizations of rotavirus AGE and a 42.2% (95% confidence interval [CI], 18.6%-59.0%; P = 0.001) reduction in the proportion of rotavirus-positive results among children younger than 5 years were observed, with the greatest decline among infants (69.2%; 95% CI, 24.7%-87.4%; P = 0.004). Furthermore, the number of all-cause hospitalizations for AGE was reduced by 29% among children aged <5 years. The onset and peak incidences of rotavirus AGE occurred 3 months later in the 2007 and 2008 seasons compared with previous years. Genotype G2 accounted for 15%, 70%, and 100% of all cases identified, respectively, in 2006, 2007, and 2008. Conclusions: After vaccine implementation, a marked decline in rotavirus AGE hospitalizations was demonstrated among children younger than 5 years of age, with the greatest reduction in the age groups targeted for vaccination. The predominance of genotype G2P[4] highlights the need of continued postlicensure surveillance studies.

ACUTE LIVER FAILURE ASSOCIATED WITH RUBELLA VIRUS IN A CHILD

Acute liver failure is a syndrome with a wide range of etiologic possibilities in children, but in up to 50% of the cases in the literature no diagnosis is established. This case report adds rubella virus to the list of possible causes of acute liver failure. This association was made by serologic, cell culture, molecular, histopathologic, and immunohistochemical methods.

P-Glycoprotein Expression, Tumor Weight, Age, and Relapse in Patients with Stage I and II Favorable-Histology Wilms` Tumor

Fifteen percent of patients with Wilms`` tumor (WT) experience relapse. It has been suggested that weight and age may affect the chances of relapse. Few studies have investigated the role, if any, between P-glycoprotein (P-gp) and relapse. The authors assessed the prognostic value of tumor weight and age at diagnosis and asked whether some other potential biological markers, specifically P-gp protein expression, had a prognostic value in favorable-histology WT. No association between age and relapse could be found. Patients with tumor weight >= a parts per thousand yen550 g were 6 times more likely to relapse, whereas P-gp expression was positive in 18/40 (45%%) of the patients, of which 10/12 (83.3%%) relapsed and 8/28 (28.6%%) did not. Further studies are necessary to elucidate whether or not P-gp is related to relapse in patients with histologically favorable Wilms`` tumor. If confirmed, the protein may be used in the future as a target for new drugs and treatments for this group of patients.

Helicobacter pylori and Iron-deficiency Anemia in Adolescents in Brazil

Aim: The aim of the study was to evaluate the association between Helicobacter pylori infection and iron deficiency (ID) in adolescents attending a public school. Patients and Methods: From March to June 2001, a cross-sectional study was conducted among adolescents (10-16 years) enrolled in a single public school in Sao Paulo, Brazil. Of 400 eligible students, 195 agreed to participate, but 1 was excluded due to sickle cell disease. A blood sample was collected from each subject to measure hemoglobin and ferritin. H pylori status was investigated with the 13 C-urea breath test. All of the subjects with either anemia or ID were given iron therapy. Results: H pylori prevalence was 40.7% (79/194), being higher in male subjects (45/90 vs 34/104, P = 0.014). There was no relation between infection and nutritional status. Abnormally low serum ferritin was observed in 12 subjects, half of whom were positive for H pylori (odds ratio [OR] 1.49, 95% confidence interval [CI] 0.38-5.81). The median serum ferritin was 33.6 ng/mL (interquartile range 23.9-50.9) in infected subjects and 35.1 ng/mL (interquartile range 23.7-53.9) in uninfected subjects. Anemia was detected in 2% (4/194) of the students, half of whom were infected (OR 1.47, 95% CI 0.1-20.6). The mean hemoglobin value in infected subjects was 13.83 g/dL +/- 1.02 versus 14 g/dL +/- 1.06 in uninfected subjects. Conclusions: The study was not able to find a relation between H pylori infection and ID or anemia.

A multicentre randomized controlled trial of an empowerment-inspired intervention for adolescents starting continuous subcutaneous insulin infusion : a study protocol

Background. Continuous subcutaneous insulin infusion (CSII) treatment among children with type 1 diabetes is increasing in Sweden. However, studies evaluating glycaemic control in children using CSII show inconsistent results. Omitting bolus insulin doses using CSII may cause reduced glycaemic control among adolescents. The distribution of responsibility for diabetes self-management between children and parents is often unclear and needs clarification. There is much published support for continued parental involvement and shared diabetes management during adolescence. Guided Self-Determination (GSD) is an empowerment-based, person-centred, reflection and problem solving method intended to guide the patient to become self-sufficient and develop life skills for managing difficulties in diabetes self-management. This method has been adapted for adolescents and parents as Guided Self-Determination-Young (GSD-Y). This study aims to evaluate the effect of an intervention with GSD-Y in groups of adolescents starting on insulin pumps and their parents on diabetes-related family conflicts, perceived health and quality of life (QoL), and metabolic control. Here, we describe the protocol and plans for study enrolment. Methods. This study is designed as a randomized, controlled, prospective, multicentre study. Eighty patients between 12-18 years of age who are planning to start CSII will be included. All adolescents and their parents will receive standard insulin pump training. The education intervention will be conducted when CSII is to be started and at four appointments in the first 4 months after starting CSII. The primary outcome is haemoglobin A1c levels. Secondary outcomes are perceived health and QoL, frequency of blood glucose self-monitoring and bolus doses, and usage of carbohydrate counting. The following instruments will be used to evaluate perceived health and QoL: Disabkids, 'Check your health', the Diabetes Family Conflict Scale and the Swedish Diabetes Empowerment Scale. Outcomes will be evaluated within and between groups by comparing data at baseline, and at 6 and 12 months after starting treatment. Results and discussion. In this study, we will assess the effect of starting an insulin pump together with the model of Guided Self-Determination to determine whether this approach leads to retention of improved glycaemic control, QoL, responsibility distribution and reduced diabetes-related conflicts in the family. Trial registration: Current controlled trials: ISRCTN22444034

The effectiveness of proactive telephone support provided to breastfeeding mothers of preterm infants : study protocol for a randomized controlled trial

Background: Although breast milk has numerous benefits for infants' development, with greater effects in those born preterm (at < 37 gestational weeks), mothers of preterm infants have shorter breastfeeding duration than mothers of term infants. One of the explanations proposed is the difficulties in the transition from a Neonatal Intensive Care Unit (NICU) to the home environment. A person-centred proactive telephone support intervention after discharge from NICU is expected to promote mothers' sense of trust in their own capacity and thereby facilitate breastfeeding. Methods/design: A multicentre randomized controlled trial has been designed to evaluate the effectiveness and cost-effectiveness of person-centred proactive telephone support on breastfeeding outcomes for mothers of preterm infants. Participating mothers will be randomized to either an intervention group or control group. In the intervention group person-centred proactive telephone support will be provided, in which the support team phones the mother daily for up to 14 days after hospital discharge. In the control group, mothers are offered a person-centred reactive support where mothers can phone the breastfeeding support team up to day 14 after hospital discharge. The intervention group will also be offered the same reactive telephone support as the control group. A stratified block randomization will be used; group allocation will be by high or low socioeconomic status and by NICU. Recruitment will be performed continuously until 1116 mothers (I: 558 C: 558) have been included. Primary outcome: proportion of mothers exclusively breastfeeding at eight weeks after discharge. Secondary outcomes: proportion of breastfeeding (exclusive, partial, none and method of feeding), mothers satisfaction with breastfeeding, attachment, stress and quality of life in mothers/partners at eight weeks after hospital discharge and at six months postnatal age. Data will be collected by researchers blind to group allocation for the primary outcome. A qualitative evaluation of experiences of receiving/providing the intervention will also be undertaken with mothers and staff. Discussion: This paper presents the rationale, study design and protocol for a RCT providing person-centred proactive telephone support to mothers of preterm infants. Furthermore, with a health economic evaluation, the cost-effectiveness of the intervention will be assessed. Trial registration: NCT01806480

Integrating a sense of coherence into the neonatal environment

Background: Family centred care (FCC) is currently a valued philosophy within neonatal care; an approach that places the parents at the heart of all decision-making and engagement in the care of their infant. However, to date, there is a lack of clarity regarding the definition of FCC and limited evidence of FCCs effectiveness in relation to parental, infant or staff outcomes. Discussion: In this paper we present a new perspective to neonatal care based on Aaron Antonovksy's Sense of Coherence (SOC) theory of well-being and positive health. Whilst the SOC was originally conceptualised as a psychological-based construct, the SOCs three underpinning concepts of comprehensibility, manageability and meaningfulness provide a theoretical lens through which to consider and reflect upon meaningful care provision in this particular care environment. By drawing on available FCC research, we consider how the SOC concepts considered from both a parental and professional perspective need to be addressed. The debate offered in this paper is not presented to reduce the importance or significance of FCC within neonatal care, but, rather, how consideration of the SOC offers the basis through which meaningful and effective FCC may be delivered. Practice based implications contextualised within the SOC constructs are also detailed. Summary: Consideration of the SOC constructs from both a parental and professional perspective need to be addressed in FCC provision. Service delivery and care practices need to be comprehensible, meaningful and manageable in order to achieve and promote positive well-being and health for all concerned.

Colesteatomas adquiridos : análise comparativa da perimatriz entre pacientes pediátricos e adultos

Introdução: Os colesteatomas podem ocorrer tanto em crianças como em adultos, porém nas crianças pareceriam ter um crescimento mais agressivo e extenso. A atividade das colagenases poderia explicar este perfil. Objetivo: Comparar, histologicamente, a perimatriz de colesteatomas adquiridos de crianças com os de adultos. Métodos: Foram estudados 74 colesteatomas, 35 pediátricos, coletados em cirurgias otológicas, fixados em formol 10% e processados pelas técnicas histológicas habituais. Foram preparadas uma lâmina em Hematoxilina-Eosina (HE) e outra em Picrossírios, de cada amostra, e analisadas ao microscópio óptico. A leitura foi “cega”, efetuada por meio de imagens digitais, no software ImagePro Plus. A análise estatística foi realizada através dos coeficientes de correlação de Pearson e Spearman e dos testes t e χ2, sendo considerados como estatisticamente significativos os valores de P<0,05. Resultados: Dos 74 colesteatomas coletados, 17 - sete do grupo pediátrico e dez do adulto - foram excluídos por não terem presença de matriz e perimatriz nas lâminas processadas. A média±dp da idade, no grupo pediátrico, foi de 12,85±3,63; e no adulto, 33,69±13,10. Na análise histológica, o número médio de camadas de células epiteliais da matriz foi igual a oito, nos dois grupos, 60% das amostras apresentavam inflamação, de moderada a acentuada; quanto à fibrose, nas crianças, 71,4% e nos adultos, 62,1%; o granuloma apareceu em 10,7% e 13,8%, respectivamente; a presença de epitélio cubóide simples delimitando a perimatriz foi encontrada em 29% dos infantis e 14% dos adultos, entretanto, nenhuma dessas variáveis apresentou diferença estatisticamente significativas quando comparadas por faixa etária (P>0,05). Quanto à espessura da perimatriz, no grupo pediátrico, as medianas (intervalo interquartil) dos parâmetros foram: média=79 (41 a 259); mediana=77 (40 a 265); soma=1.588 (831 a 5.185); delta=82 (44 a 248); mínimo=53 (16 a 165) e máximo=127 (64 a 398); já no grupo de adultos foram: média=83 (26 a 174); mediana=68 (30 a 181); soma=1.801 (558 a 3.867); delta=92 (45 a 190); mínimo=27 (12 a 100) e máximo=136 (53 a 280). O coeficiente de Spearman mostrou correlação inversa, moderada, entre a espessura da perimatriz e a idade; também houve correlação, forte, entre a espessura da perimatriz e o número de camadas da matriz, porém não houve correlação entre essa com a idade. Conclusão: Histologicamente, a perimatriz de colesteatomas adquiridos, de crianças e adultos, vista à microscopia óptica, apresenta-se como um tecido conjuntivo denso de espessura variável (intra e interpacientes), que, por vezes, exibe infiltrado inflamatório linfoplasmocitário e/ou tecido de granulação e reação de corpo estranho; em alguns casos é delimitada em plano profundo por epitélio cubóide simples. Há correlação inversa, de fraca a moderada, entre o tamanho da perimatriz, medida em micrômetros e a idade do paciente na data da cirurgia. O grau de inflamação da perimatriz apresenta correlação, de moderada a forte, com a espessura da perimatriz. As espessuras da matriz e da perimatriz estão fortemente correlacionadas.

Estado nutricional antropométrico, composição corporal e pressão arterial em adolescentes

Os objetivos deste trabalho foram: (1) estimar as prevalências de excesso de peso e de gordura corporal, obesidade central e pressão arterial elevada (PAE) em adolescentes beneficiários do Programa Nacional de Alimentação Escolar (PNAE) da rede municipal de ensino de Natal-RN; (2) verificar a associação entre variáveis antropométricas e de composição corporal com a pressão arterial, a maturação sexual e a história familiar positiva de fatores de risco para doença cardiovascular (FRDCV); (3) comparar dois padrões de referência para classificação do excesso de peso em adolescentes; e (4) propor equações preditivas de massa gorda (MG) e massa livre de gordura (MLG) baseadas nos perímetros corporais. Trata-se de um estudo transversal, com 526 adolescentes beneficiários do PNAE, em Natal, Brasil. O tamanho da população de estudo foi definido por amostragem aleatória, em dois estágios, e ponderada segundo número de alunos de cada escola. No primeiro estudo, o excesso de peso foi determinado por Índice de Massa Corporal (IMC), a gordura corporal estimada por dobras cutâneas e a obesidade central por perímetro abdominal. A pressão arterial elevada foi classificada conforme a American Academy of Pediatrics. As prevalências foram apresentadas em valores relativos e efeito do desenho. Realizou-se uma análise fatorial para sintetizar o conjunto de variáveis antropométricas visando identificar fatores comuns. Extraíram-se dois fatores: (1) padrão excesso de adiposidade e (2) padrão adiposidade central elevada. Para avaliar a associação entre os padrões de adiposidade corporal com pressão arterial elevada, faixa etária, maturação sexual e história familiar de FRDCV utilizou-se a Razão de Chances e respectivo intervalo de confiança de 95% e regressão logística. No segundo estudo, calculou-se a sensibilidade e a especificidade do excesso de peso classificado segundo o IOTF e a World Health Organization WHO em relação ao excesso de adiposidade corporal; e a estatística Kappa para medir a concordância entre os dois padrões de referência. No terceiro estudo, foram elaborados modelos preditivos de MG e MLG com base em nove perímetros corporais, utilizando a bioimpedância Byodinamics 450 como padrão de referência. Para tanto foram selecionados 218 adolescentes eutróficos, segundo o IMC a partir do estudo transversal. As equações foram estimadas por regressão linear múltipla, considerando a idade e os perímetros corporais. Os resultados apontaram que 14,1% dos meninos e 15,7% das meninas tinham excesso de peso; 15,3% dos meninos e 11,6% das meninas tinham excesso de gordura corporal e dentre os meninos 14,3% tinham pressão arterial elevada e as meninas, 21,4%. Todos os efeitos do desenho foram inferiores a 2,5%. Nos meninos, o padrão excesso de adiposidade foi associado à história familiar positiva de FRDCV (ORajust=2,60; 1,09-6,22), maturação sexual (ORajust=2,92; 1,04-8,22) e PAE (ORajust=3,66; 1,34-9,94). Os meninos com 12 anos e mais apresentaram 6,1 vezes mais chance de apresentar padrão adiposidade central elevada do que os adolescentes com 10 a 11 anos (IC95% 2,32-16,04), assim como os púberes apresentaram 3,2 vezes este mesmo padrão em relação aos pré-púberes (IC95%1,14-8,85). A partir da comparação entre os dois padrões de referencia de classificação do excesso de peso por meio do IMC, observou-se que a sensibilidade foi de 79,3% para o critério IOTF e de 88,9% para WHO e a especificidade foi de 94,7% e 89,9%, respectivamente. O nível de concordância foi maior para o critério IOTF (Kappa=0,70 x Kappa=0,64). Em relação à construção das equações preditivas de gordura corporal, do total de 106 meninos e 112 meninas, foram desenvolvidas duas equações para estimar MG e duas para MLG, considerando o sexo. No sexo masculino, a equação para estimar a MG incluiu as variáveis idade, punho, quadril e perímetro abdominal (R2=0,552; AIC=416,04) e MLG, idade, punho e antebraço (R2=0,869; AIC=578,24). Enquanto que no feminino, MG foi estimada pelas variáveis punho, perímetro do abdômen, do quadril, da coxa proximal e da panturrilha (R2=0,838; AIC=415,36); e a MLG por idade, punho, perímetro do abdômen, do quadril e da panturrilha (R2=0,878; AIC=512,48). Conclui-se que os adolescentes tinham elevada prevalência de excesso de adiposidade corporal e de pressão arterial elevada. Tanto o padrão excesso de adiposidade quanto adiposidade central elevada constituem-se em padrões de risco. O padrão excesso de adiposidade foi associado à pressão arterial, história familiar positiva de FRDCV e maturação sexual em meninos. O critério IOTF mostrou-se menos sensível, mais específico, com maior nível de concordância e maior probabilidade de identificar corretamente o excesso de gordura corporal nos adolescentes avaliados. Quatro equações foram desenvolvidas para a estimativa da MG e MLG em adolescentes. As equações desenvolvidas para estimar a MG no sexo feminino e MLG para ambos os sexos apresentaram valores elevados de coeficiente de determinação ajustados e, portanto, são as preferenciais. Este estudo foi realizado com a participação de equipe multidisciplinar composta por professores da área de Nutrição, Endocrinologia Pediátrica, Estatística, Educação Física, discentes do Curso de Graduação em Nutrição e residentes em Pediatria