16q24.1 microdeletion in a premature newborn: Usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.

OBJECTIVE:: Report of a 16q24.1 deletion in a premature newborn, demonstrating the usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn and multiple congenital malformations. DESIGN:: Descriptive case report. SETTING:: Genetic department and neonatal intensive care unit of a tertiary care children's hospital. INTERVENTIONS:: None. PATIENT:: We report the case of a preterm male infant, born at 26 wks of gestation. A cardiac malformation and bilateral hydronephrosis were diagnosed at 19 wks of gestation. Karyotype analysis was normal, and a 22q11.2 microdeletion was excluded by fluorescence in situ hybridization analysis. A cesarean section was performed due to fetal distress. The patient developed persistent pulmonary hypertension unresponsive to mechanical ventilation and nitric oxide treatment and expired at 16 hrs of life. MEASUREMENTS AND MAIN RESULTS:: An autopsy revealed partial atrioventricular canal malformation and showed bilateral dilation of the renal pelvocaliceal system with bilateral ureteral stenosis and annular pancreas. Array-based comparative genomic hybridization analysis (Agilent oligoNT 44K, Agilent Technologies, Santa Clara, CA) showed an interstitial microdeletion encompassing the forkhead box gene cluster in 16q24.1. Review of the pulmonary microscopic examination showed the characteristic features of alveolar capillary dysplasia with misalignment of pulmonary veins. Some features were less prominent due to the gestational age. CONCLUSIONS:: Our review of the literature shows that alveolar capillary dysplasia with misalignment of pulmonary veins is rare but probably underreported. Prematurity is not a usual presentation, and histologic features are difficult to interpret. In our case, array-based comparative genomic hybridization revealed a 16q24.1 deletion, leading to the final diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins. It emphasizes the usefulness of array-based comparative genomic hybridization analysis as a diagnostic tool with implications for both prognosis and management decisions in newborns with refractory persistent pulmonary hypertension and multiple congenital malformations.

Comparisons of Mortality and Pre-discharge Respiratory Outcomes in Small-for-gestational-age and Appropriate-for-gestational-age Premature Infants.

BACKGROUND: There are differences in the literature regarding outcomes of premature small-for-gestational-age (SGA) and appropriate-for gestational-age (AGA) infants, possibly due to failure to take into account gestational age at birth. OBJECTIVE: To compare mortality and respiratory morbidity of SGA and AGA premature newborn infants. DESIGN/METHODS: A retrospective study was done of the 2,487 infants born without congenital anomalies at RESULTS: Controlling for GA, premature SGA infants were at a higher risk for mortality (Odds ratio 3.1, P = 0.001) and at lower risk of respiratory distress syndrome (OR = 0.71, p = 0.02) than AGA infants. However multivariate logistic regression modeling found that the odds of having respiratory distress syndrome (RDS) varied between SGA and AGA infants by GA. There was no change in RDS risk in SGA infants at GA 32 wk (OR = 0.41, 95% CI 0.27 - 0.63; p < 0.01). After controlling for GA, SGA infants were observed to be at a significantly higher risk for developing chronic lung disease as compared to AGA infants (OR = 2.2, 95% CI = 1.2 - 3.9, P = 0.01). There was no significant difference between SGA and AGA infants in total days on ventilator. Among infants who survived, mean length of hospital stay was significantly higher in SGA infants born between 26-36 wks GA than AGA infants. CONCLUSIONS: Premature SGA infants have significantly higher mortality, significantly higher risk of developing chronic lung disease and longer hospital stay as compared to premature AGA infants. Even the reduced risk of RDS in infants born at >/=32 wk GA, (conferred possibly by intra-uterine stress leading to accelerated lung maturation) appears to be of transient effect and is counterbalanced by adverse effects of poor intrauterine growth on long term pulmonary outcomes such as chronic lung disease.

Plasma D-lactate Levels in Necrotizing Enterocolitis in Premature Infants

Background: D-Lactate is normally present in the blood of humans at nanomolar concentrations due to methylglyoxal metabolism; millimolar D-lactate concentrations can arise due to excess gastrointestinal microbial production. Objectives: To examine the levels of plasma D-lactate in the necrotizing enterocolitis in premature infants. Patients and Methods: 128 premature infants were divided into control (group I, n = 69), feeding intolerance (group II, n = 42) and NEC (group III, n = 27) groups. Plasma D-lactate levels were measured at the onset of feeding intolerance or NEC and at weeks 2-3 in control infants (group I) by ELISA. Data were analyzed using descriptive statistics, non-parametric tests and Student’s t-test. Results: In groups I, II, III, median birth weights were 1845.7 ± 267.5 g, 1913.1 ± 306.5 g, and 1898.4 ± 285.3 g, median gestational ages were 34.3 ± 1.7 weeks, 33.9 ± 2.2 weeks and 35.1 ± 2.6 weeks, ages of sampling were 12.3 ± 2.9 days, 14.6 ± 3.7 days and 15.1 ± 1.8 days, respectively. The differences of median birth weights, median gestational ages and ages of sampling were not statistically significant (P > 0.05). The plasma D-lactate levels in groups I, II, III were 3.6 ± 1.9 μg/mL, 12.7 ± 8.3 μg/mL, and 35.4 ± 29.1 μg/mL, respectively, group III had higher plasma D-lactate level than groups I, II, and the difference among these groups was significant (x2 = 21.6, P < 0.01). Conclusions: Plasma D-lactate significantly increased early in NEC. Plasma D-lactate levels were associated with extensive disease in NEC infants. Therefore, it could be used as a diagnosis indicator in the early stage of NEC.

Intervention éducationnelle de massage auprès de parents de nouveau-nés prématurés dans le but de favoriser leur sensibilité parentale

Rapport de stage présenté à la Faculté des sciences infirmières en vue de l'obtention du grade de Maître ès sciences (M.Sc.) en sciences infirmières option expertise-conseil en soins infirmiers

Morbimortalidad neonatal de los pretérminos de la unidad de cuidados intensivos de la Fundación Santafé de Bogotá

Introducción: El manejo de los neonatos pretermino en la Unidad de Cuidados Intensivos (UCIN) de la Fundación Santafé sigue protocolos internacionales, sin embargo no se conoce si las estadísticas internacionales se correlacionan con las locales. El estudio pretende determinar la morbimortalidad en esta población de pretérminos, buscar si existen factores de riesgo asociados a esta y plantear propuestas para mejorar en los cuidados de los pacientes. Materiales y Métodos: Estudio descriptivo de corte Transversal, que incluyó neonatos preterminos menores de 1500 gr que hubieran estado hospitalizados en la UCIN en un periodo de 5 años desde enero del 2005 a diciembre de 2009. Se analizo la información estadísticamente y se buscaron diferencias entre los grupos que presentaron mortalidad y los que sobrevivieron. Resultados: Fueron recolectadas 106 historias clínicas, murieron (12,3%) y sobrevivieron (87,7%). La diferencia entre el peso medio fue de 387 gramos (IC95% 245.5 a 528,5; p<0,05), mayor en los que sobrevivieron que en los que murieron; al igual que la diferencia entre las semanas de gestación fue de 2 semanas (IC95% 0.7 a 3,3; p<0,05) también mayor en los sobrevivientes. La principal indicación de parto fue Ruptura Prematura de Membranas (23,1% y 25,8% respectivamente) y el 87,7% fue diagnosticado con Enfermedad de Membrana Hialina. Conclusión: La Fundación Santafé presenta estadísticas de mortalidad de preterminos muy por debajo del nivel mundial, pero debido a la falta de seguimiento de los pacientes que egresan no es posible la comparación con los datos de los estudios encontrados en la literatura.

Prevalencia de TSH neonatal elevada y factores perinatales relacionados con asfixia Bogotá 2012

Introducción: la asfixia perinatal es la tercera causa de muerte en menores de 5 años. Las secuelas neurológicas suponen una carga importante para las familias y los sistemas de salud (1). Los estudios que relacionan el efecto de la asfixia perinatal sobre las hormonas tiroideas son escasos. El estudio sobre predictores de asfixia es un tema de investigación permanente. El objetivo principal fue determinar la prevalencia de TSH de cordón elevada y su relación con factores perinatales asociados a asfixia. Métodos: estudio descriptivo retrospectivo. La muestra estuvo conformada por todos los recién nacidos con TSH de cordón elevada y un segundo grupo seleccionado de forma aleatoria con TSH de cordón normal. Tomada de una población de neonatos atendidos en una clínica de Bogotá durante el 2012. Resultados: la prevalencia de TSH de cordón elevada fue de 14,7%. Los resultados sugieren una posible asociación entre alteraciones en las pruebas de bienestar fetal, presencia de infección materna, parto distócico, dificultad respiratoria y APGAR bajo y la presencia de TSH elevada p<0,05. Discusión: La alta prevalencia de TSH de cordón elevada podría relacionarse con las características de alto riesgo que presenta esta población. La elevación transitoria de la TSH neonatal de cordón en neonatos con alteraciones del bienestar fetal asociada a eventos hipóxicos agudos, sugiere que esta hormona podría ser un marcador de asfixia perinatal.

Significados e percepções de puérperas sobre as síndromes hipertensivas da gravidez e parto prematuro

Hypertensive syndromes in pregnancy (HSP) are configured as one of the major complications in the pregnancy and postpartum period and can lead premature newborn and subsequent hospitalization of the newborn to the Neonatal Intensive Care Unit (NICU). This study aimed to analyze the perceptions, meanings and feelings of mothers on the hypertensive syndromes in pregnancy and premature obstetric labor. The research was qualitative and has a theoretical methodological the Social Representations Theory(SRT) in the approach to the Central Nucleus Theory. The study included 70 women, mean age 29 years, predominantly school to high school, most of them married or in consensual union, primiparous and prevalence of cesarean delivery occurred between 32 and 37 weeks of pregnancy.The data were collected from may to december 2008 in the Maternity School Januário Cicco in Natal , and obtained through the following instruments for data collection: questionnaire including questions about socio-demographic status; the Free Words Association Test (FWAT) and and verbalized mental image construction used three stimuli: such as pregnancy with high blood pressure, preterm birth and NICU, and interview with the following guiding question: what it meant for you to have a pregnancy with high blood pressure and consequently the birth of a premature baby? Data analysis was performed using multi-method obtained from the data processing by EVOC (Ensemble Programmes Permettant L 'Analyze des Évocations) and ALCESTE (Analyse Lexicale par Contexte d'un Ensemble de Segment de Texte) and thematic analysis in categories. The results will be presented in four thematic units under the following representative universes: HSP, prematurity as a result of HSP, NICU and the social representations of mothers on the hypertensive disorder of pregnancy sequenced premature birth and hospitalization of the child in the NICU. The results obtained by multimethod analyses showed similar constructions and point to death as the central nucleus and negative aspects, coping strategies, need of care, knowledge about the disease, fragility and meanings of the NICU as peripheral elements. It is considered that the perceptions, meanings and feelings of puerperal women in relation to HSPs and to premature delivery are a negative social representation, with representational elements that may have influenced the adverse effects on the disease and its consequences. We suggest action on the peripheral elements of this representation, with adequate orientation, early diagnosis, effective conduct, receptive attitude on the part of the team, health promotion measures and effective public policies, in order to improve the care provided to puerperal women, making them feel welcome and minimizing their suffering

Characterization of the motor performance in infants with a diagnosis of Cerebral Palsy in process of rehabilitation: the importance of the proactivity of caregivers

Introduction: The progress in technology, associated to the high survival rate in premature newborn infants in neonatal intensive care units, causes an increase in morbidity. Individuals with CP present complex motor alterations, with primary deficits of abnormal muscle tone affecting posture and voluntary movement, alteration of balance and coordination, decrease of force, and loss of selective motor control with secondary problems of contractures and bone deformities.Objective: The aim of this work is to describe the spontaneous movement and strategies that lead infants with cerebral palsy to move.Methods: Seven infants used to receive assistance at the Essential Stimulation Center of CIAM (Israeli Center for Multidisciplinary Support - Philanthropic Institution), with ages ranging between six and 18 months with diagnosis of Cerebral Palsy (CP) were assessed.Results: The results show the difficulty presented by the infants with respect to the spontaneous motor functions and the necessity of help from the caregiver in order to perform the functional activity (mobility). Prematurity prevails as the major risk factor among the complications.Conclusion: The child development can be understood as a product of the dynamic interactions involving the infant, the family, and the context. Thus, the social interactions and family environment in which the infant live may encourage or limit both the acquisition of skills and the functional independence.

Lipoma do cerebelo: relato de caso

Lipomas intracranianos são raros, geralmente sendo achado de autópsia. Situam-se na linha média, mais frequentemente de localização central. Podem ocorrer desde a infância até a vida adulta. Muitos dos lipomas, na verdade são associados a lesões hamartomatosas ou, mesmo, a neoplasias como os meduloblastomas do cerebelo. Relatamos e discutimos um caso de lipoma de cerebelo, achado de autópsia de um recém-nascido prematuro.

Métodos de alimentação alternativos para recém-nascidos prematuros

OBJETIVO: Apresentar revisão de literatura sobre o uso do copo/xícara como método alternativo de alimentação para recém-nascidos prematuros e verificar se há consenso sobre sua indicação para essa população. FONTES DE DADOS: Revisão de literatura narrativa, tendo sido selecionados artigos nas bases de dados Medline, Lilacs, SciELO e Cochrane, independentemente do ano, usando descritores específicos: alimentação artificial, recém-nascido prematuro, aleitamento materno, métodos de alimentação. SÍNTESE DOS DADOS: Apesar de alguns estudos afirmarem que o método do copo/xícara é eficaz e seguro para alimentar recém-nascidos pré-termo e a termo, tais estudos não avaliam de forma objetiva o efeito do método sobre a deglutição desses pacientes. CONCLUSÕES: Verificou-se não haver consenso na literatura quanto à complementação da alimentação de recém-nascidos prematuros por meio do copo/xícara. Estudos controlados devem ser realizados com a finalidade de rever riscos e benefícios do uso de métodos alternativos na alimentação do recém-nascido prematuro.

Fração de excreção de sódio, osmolaridade e densidade urinária em recém-nascidos prematuros alimentados com leite humano de banco adicionado de suplemento

Objective: This research was performed with the objective of investigating the renal effects on premature newborn infants of fortifying banked donor human milk. Methods: Clinical intervention trial, of the before-and-after type, involving 28 premature newborn infants split into two groups by postconceptional age at the start of the study: GI < 34 weeks (n = 14) and GII ≥ 34 weeks (n = 14), and assessed at three sample points: S1, on unfortified donor human milk, S2, after 3 days, and S3, after 10-13 days on fortified donor human milk. Nutrient intake, weight gain, fractional sodium excretion, urinary osmolality and specific density were compared with two-way ANOVA for repeated measures. Results: Fluids, energy and sodium intakes were similar for both groups, and weight gain was satisfactory. Among the preterms with < 34 weeks postconceptional age, serum sodium was lower at the end of the study and the fractional sodium excretion was elevated at the start and at the end of the study (S1 = 2.11±1.05; S2 = 1.25±0.64; S3 = 1.62±0.88), with a significant difference in relation to GII (S1 = 1.34±0.94; S2 = 0.90±0.54; S3 = 0.91±0.82). Osmolality and urinary specific density were normal, with no differences between groups or collection dates. Conclusions: No adverse effects on the renal function of these preterms were detected as a result of being fed fortified donor human milk. Copyright © 2006 by Sociedade Brasileira de Pediatria.

Alterações do fluxo sanguíneo em artéria umbilical na síndrome hipertensiva gestacional e suas implicações no período neonatal

Pós-graduação em Ginecologia, Obstetrícia e Mastologia - FMB

Characterization of the motor performance in infants with a diagnosis of Cerebral Palsy in process of rehabilitation: the importance of the proactivity of caregivers

Introduction: The progress in technology, associated to the high survival rate in premature newborn infants in neonatal intensive care units, causes an increase in morbidity. Individuals with CP present complex motor alterations, with primary deficits of abnormal muscle tone affecting posture and voluntary movement, alteration of balance and coordination, decrease of force, and loss of selective motor control with secondary problems of contractures and bone deformities. Objective: The aim of this work is to describe the spontaneous movement and strategies that lead infants with cerebral palsy to move. Methods: Seven infants used to receive assistance at the Essential Stimulation Center of CIAM (Israeli Center for Multidisciplinary Support - Philanthropic Institution), with ages ranging between six and 18 months with diagnosis of Cerebral Palsy (CP) were assessed. Results: The results show the difficulty presented by the infants with respect to the spontaneous motor functions and the necessity of help from the caregiver in order to perform the functional activity (mobility). Prematurity prevails as the major risk factor among the complications. Conclusion: The child development can be understood as a product of the dynamic interactions involving the infant, the family, and the context. Thus, the social interactions and family environment in which the infant live may encourage or limit both the acquisition of skills and the functional independence.

Recém-nascido prematuro: suporte materno domiciliar para o cuidado

Este estudo descritivo, com abordagem qualitativa, teve como objetivo identificar o suporte materno, no domicílio, para o cuidado do recém-nascido prematuro egresso de Unidade Neonatal. O estudo, realizado em 2008, entrevistou doze mães residentes no município de Sumaré-SP. Os relatos, gravados, foram tratados pela técnica do Discurso do Sujeito Coletivo (DSC). Os resultados acrescem o conhecimento de enfermagem pela diversidade de recursos que emergiram, e que revelaram a importância da inserção materna na Unidade Neonatal; valorizaram a Cartilha de orientação oferecida pelo serviço; e destacaram a relevância do apoio social para o cuidado do bebê, no domicílio. Recomenda-se a inserção do familiar no plano de enfermagem para a alta do prematuro na Unidade Neonatal.

INTERVENÇÕES LÚDICAS COM MÃES DE RECÉM-NASCIDOS PRÉ-TERMO HOSPITALIZADOS

Esta pesquisa investiga a influência de intervenções lúdicas na diminuição da ansiedade materna com mães de recém-nascidos pré-termo hospitalizados, em um hospital universitário da Grande São Paulo. São estudadas 30 mães que tiveram parto prematuro, com faixa etária entre 16 e 40 anos e escolaridade até 2º grau, por meio de estudo avaliativo-interventivo-evolutivo. Inicia-se por uma entrevista psicológica semidirigida, com o objetivo de traçar o histórico gestacional, seguida de aplicação da Escala de Ansiedade, Depressão e Irritabilidade IDA, visando identificar o nível de ansiedade materna e do Inventário de Percepção Neonatal IPN-I para verificar a expectativa das mães em relação ao comportamento de choro, alimento e vômito de seus bebês pré-termo. A seguir são efetuadas intervenções grupais lúdicas em 16 encontros, um a cada semana, de 60 minutos, segundo modelo piagetiano, que estimula processos afetivosemocionais e cognitivos. Os dados relativos ao histórico gestacional revelam que 75% das mães encontram-se na segunda gestação e já sofreram aborto ou óbito fetal; têm ida de gestacional média de 31 semanas; peso médio do bebê ao nascer de 1.640g. e tempo de internação médio de 39,93 dias. Na análise do IDA em relação à ansiedade, 75% delas apresentam escore de alta intensidade (11,25), também alto quanto à depressão (10); o escore médio (3,73) da irritabilidade exteriorizada acompanha o da irritabilidade interiorizada (3,23). A correlação entre depressão e ansiedade indica que uma reação emocional segue a outra, não havendo diferença significativa importante entre ambas (p=0,306). O IPN-I comprova que as 30 mães têm expectativas em relação ao próprio filho similares aos bebês em geral, mostrando escores médios de 8,63 e 9,20, respectivamente, confirmados pelo escore 10,0 apontado em 75% da amostra, o que configura uma alta expectativa quanto aos aspectos de sono, alimentação e vômito dos bebês. A análise qualitativa revela que a criação de grupos lúdicos mostra-se favorável, com alta adesão e motivação das mães, favorecendo a diminuição da ansiedade, a adaptação à realidade vivida e a interação mãe-bebê de forma saudável durante a internação. O estudo apresenta a trajetória interventiva de três casos emblemáticos de diferentes níveis de ansiedade, ilustrando esta evolução. Estes dados sugerem que esta modalidade de intervenção caracterize-se como uma medida de prevenção, promoção e preservação da saúde física e psíquica da mãe e do recémnascido prematuro, com repercussões na família e na sociedade.(AU)