Volumetric capnography in infants with bronchopulmonary dysplasia.

OBJECTIVES To assess the feasibility of using volumetric capnography in spontaneously breathing small infants and its ability to discriminate between infants with and without bronchopulmonary dysplasia (BPD). STUDY DESIGN Lung function variables for 231 infants (102 term, 52 healthy preterm, 77 BPD), matched for post-conceptional age of 44 weeks, were collected. BPD was defined as supplemental oxygen requirement at 36 weeks post-menstrual age. Tidal breath-by-breath volume capnograms were obtained by mainstream capnography. The capnographic slope of phase II (SII) and slope of phase III (SIII) were calculated and compared between study groups. The effect of BPD, tidal volume (VT), respiratory rate (RR), and prematurity on the magnitude of the slopes was assessed. RESULTS SII was steeper in infants with BPD (100 ± 28/L) compared with healthy preterm (88 ± 22/L; P = .007) and term infants (79 ± 18/L; P < .001), but this finding was attributed to differences in VT, RR, and gestational age. SIII was steeper in the BPD group (26.8 ± 14.1/L) compared with healthy preterm (16.2 ± 6.2/L; P < .001) and term controls (14.8 ± 5.4/L; P < .001). BPD was a significant predictor of SIII independently of VT, RR, and gestational age. The ability of SIII to discriminate between BPD and controls was significantly higher compared with lung clearance index (area under the curve 0.83 vs 0.56; P < .001). CONCLUSIONS Volumetric capnography may provide valuable information regarding functional lung alterations related to BPD and might be considered as an alternative to more involved lung function techniques for monitoring chronic lung disease during early infancy.

A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia.

CONTEXT Lipoid congenital adrenal hyperplasia (CAH) is the most severe form of CAH leading to impaired production of all adrenal and gonadal steroids. Mutations in the gene encoding steroidogenic acute regulatory protein (StAR) cause lipoid CAH. OBJECTIVE We investigated three unrelated patients of Swiss ancestry who all carried novel mutations in the StAR gene. All three subjects were phenotypic females with absent Müllerian derivatives, 46,XY karyotype, and presented with adrenal failure. METHODS AND RESULTS StAR gene analysis showed that one patient was homozygous and the other two were heterozygous for the novel missense mutation L260P. Of the heterozygote patients, one carried the novel missense mutation L157P and one had a novel frameshift mutation (629-630delCT) on the second allele. The functional ability of all three StAR mutations to promote pregnenolone production was severely attenuated in COS-1 cells transfected with the cholesterol side-chain cleavage system and mutant vs. wild-type StAR expression vectors. CONCLUSIONS These cases highlight the importance of StAR-dependent steroidogenesis during fetal development and early infancy; expand the geographic distribution of this condition; and finally establish a new, prevalent StAR mutation (L260P) for the Swiss population.

El desarrollo como estrategia adaptativa : Características exclusivas de la infancia humana

En este trabajo se presenta una hipótesis evolucionista acerca del desarrollo. Se compara la infancia humana con la de los primates no humanos y se describen sus rasgos exclusivos vinculados con la extensión y transformación del mundo emocional, la interacción adulto-bebé y la formación de procesos psicológicos complejos. Se argumenta a favor del papel constitutivo de las artes temporales en cada uno de los rasgos descriptos

El desarrollo como estrategia adaptativa : Características exclusivas de la infancia humana

En este trabajo se presenta una hipótesis evolucionista acerca del desarrollo. Se compara la infancia humana con la de los primates no humanos y se describen sus rasgos exclusivos vinculados con la extensión y transformación del mundo emocional, la interacción adulto-bebé y la formación de procesos psicológicos complejos. Se argumenta a favor del papel constitutivo de las artes temporales en cada uno de los rasgos descriptos

El desarrollo como estrategia adaptativa : Características exclusivas de la infancia humana

En este trabajo se presenta una hipótesis evolucionista acerca del desarrollo. Se compara la infancia humana con la de los primates no humanos y se describen sus rasgos exclusivos vinculados con la extensión y transformación del mundo emocional, la interacción adulto-bebé y la formación de procesos psicológicos complejos. Se argumenta a favor del papel constitutivo de las artes temporales en cada uno de los rasgos descriptos

Comparison of the Retinomax autorefractor with hand-held retinoscopy in 1-year-old infants

This study aimed to determine the accuracy (and usability) of the Retinomax, a hand-held autorefractor, compared to measurements taken from hand-held retinoscopy (HHR) in a sample of normal 1-year-old children. The study was a method comparison set at four Community Child Health Clinics. Infants (n = 2079) of approximately 1 year of age were identified from birth/immunization records and their caregivers were contacted by mail. A total of 327 infants ranging in age from 46 weeks to 81 weeks (mean 61 weeks) participated in the study. The children underwent a full ophthalmic examination. Under cycloplegia, refraction was measured in each eye by streak retinoscopy (HHR) and then re-measured using the Retinomax autorefractor. Sphere, cylinder, axis of cylinder and spherical equivalent measurements were recorded for HHR and Retinomax instruments, and compared. Across the range of refractive errors measured, there was generally close agreement between the two examination methods, although the Retinomax consistently read around 0.3 D less hyperopic than HHR. Significantly more girls (72 infants, 47.7%), struggled during examination with the Retinomax than boys (52 infants, 29.5%) (P < 0.001). Agreement deteriorated between the two instruments if the patient struggled during the examination (P < 0.001). In general, the Retinomax would appear to be a useful screening instrument in early childhood. However, patient cooperation affects the accuracy of results and is an important con-sideration in determining whether this screening instrument should be adopted for measuring refractive errors in early infancy.

Intracranial haemorrhage due to late onset vitamin K deficiency bleeding in Hanoi province, Vietnam

Background: In many developing countries vitamin K prophylaxis is not routinely administered at birth. There are insufficient data to assess the cost effectiveness of its implementation in such countries. Objective: To estimate the burden of intracranial haemorrhage caused by late onset vitamin K deficiency bleeding in Hanoi, Vietnam. Methods: Cases of intracranial haemorrhage in infants aged 1 - 13 weeks were identified in Hanoi province for 5 years ( 1995 - 1999), and evidence for vitamin K deficiency was sought. The data were compared with those on vitamin K deficiency bleeding in developed countries and used to obtain an approximation to the incidence of intracranial haemorrhage caused by vitamin K deficiency bleeding in Hanoi. Results: The estimated incidence of late onset vitamin K deficiency bleeding in infants who received no prophylaxis was unexpectedly high ( 116 per 100 000 births) with 142 and 81 per 100 000 births in rural and urban areas respectively. Mortality was 9%. Of the surviving infants, 42% were neurologically abnormal at the time of hospital discharge. Identified associations were rural residence, male sex, and low birth weight. A significant reduction in the incidence was observed in urban Hanoi during 1998 and 1999, after vitamin K prophylaxis was introduced at one urban obstetric hospital. Conclusions: Vitamin K deficiency bleeding is a major public health problem in Hanoi. The results indicate that routine vitamin K prophylaxis would significantly reduce infant morbidity and mortality in Vietnam and, costing an estimated US$87 (pound48, E72) per disability adjusted life year saved, is a highly cost effective intervention.

The tuberous sclerosis 2000 study:presentation initial assessments and implications for diagnosis and management

Aims: The Tuberous Sclerosis 2000 Study is the first comprehensive longitudinal study of tuberous sclerosis (TS) and aims to identify factors that determine prognosis. Mode of presentation and findings at initial assessments are reported here. Methods: Children aged 0-16 years newly diagnosed with TS in the UK were evaluated. Results: 125 children with TS were studied. 114 (91%) met clinical criteria for a definite diagnosis and the remaining 11 (9%) had pathogenic TSC1 or TSC2 mutations. In families with a definite clinical diagnosis, the detection rate for pathogenic mutations was 89%. 21 cases (17%) were identified prenatally, usually with abnormalities found at routine antenatal ultrasound examination. 30 cases (24%) presented before developing seizures and in 10 of these without a definite diagnosis at onset of seizures, genetic testing could have confirmed TS. 77 cases (62%) presented with seizures. Median age at recruitment assessment was 2.7 years (range:4 weeks-18 years). Dermatological features of TS were present in 81%. The detection rate of TS abnormalities was 20/107 (19%) for renal ultrasound including three cases with polycystic kidney disease, 51/88 (58%) for echocardiography, 29/35 (83%) for cranial CT and 95/104 (91%) for cranial MRI. 91% of cases had epilepsy and 65% had intellectual disability (IQ<70). Conclusions: Genetic testing can be valuable in confirming the diagnosis. Increasing numbers of cases present prenatally or in early infancy, before onset of seizures, raising important questions about whether these children should have EEG monitoring and concerning the criteria for starting anticonvulsant therapy.

Pedagogia da Infância: interlocuções disciplinares na pesquisa em Educação

Este artigo tem como objetivo situar interlocuções disciplinares na busca de caminhos para a delimitação de uma área específica da pesquisa em Educação no Brasil, a qual se denomina de Pedagogia da Infância ou da Educação Infantil (Rocha, 1999). Inicialmente e de forma sintética,são recuperados elementos conceituais presentes em publicações e pesquisas para, em seguida, apresentar uma revisão do percurso e das construções teóricas já realizadas, as quais afirmam a necessidade de consolidação de um diálogo disciplinar para o estudo da educação infantil, sobretudo a partir dos estudos sociais da infância. Posteriormente, o artigo apresenta alguns exercícios de possibilidades dessas interlocuções, em particular, tomando o estudo de Buss-Simão (2012) acerca das relações sociais no âmbito do contexto educativo para a pequena infância. Por fim, concluímos com a indicação de perspectivas e demandas de aprofundamentos relativas aos processos de socialização e à constituição da experiência das crianças na educação infantil.

Impacto de variáveis sócio-culturais no desempenho cognitivo: estudo em crianças dos 4 aos 7 anos

Dissertação de mest. em Psicologia da Educação - Especialização em Ensino Básico, Faculdade de Ciências Humanas e Sociais e Escola Superior de Educação, Univ. do Algarve, 2003

Persistent Truncus Arteriosus With Intact Ventricular Septum: Clinical, Hemodynamic and Short-term Surgical Outcome

Introduction: Truncus arteriosus with intact ventricular septum is a rare and unique variant of persistent truncus arteriosus (PTA) which usually presents with central cyanosis and congestive heart failure in neonate and early infancy. Associated cardiac and non-cardiac anomalies may affect morbidity and mortality of these patients. Case Presentation: We describe clinical presentation, echocardiography and angiographic features of a 7-month old boy with PTA and intact ventricular septum who underwent surgical repair of the anomaly at our institution. Operative findings, surgical procedure and short-term outcome are reported. Conclusions: While our patient had systemic pulmonary arterial pressure at the time of complete surgical repair, it was improved after surgery.

Early nutrition and eczema in infancy

Eczema prevalence rates among Irish infants are unreported, despite eczema being the most common inflammatory condition of infancy. Maternal and infant nutritional status including vitamin D and other fat-soluble vitamins as well as early infant feeding have been linked with eczema initiation and development. Therefore, early nutrition could be a potential modifiable risk factor. The objective of this thesis was to prospectively describe early infant feeding and complementary feeding practices, to evaluate infant vitamin D supplementation practice, to quantify cord serum 25-hydroxyvitamin D [25(OH)D] and propose reference intervals for vitamin D metabolites, to report eczema prevalence and explore the potential role of infant nutrition and eczema. These research needs were investigated through the Cork BASELINE (Babies After SCOPE: Evaluating the Longitudinal Impact with Neurological and Nutritional Endpoints) Birth Cohort Study (n 2137). This thesis was the first comprehensive report from the birth cohort, therefore it was important to describe the cohort sociodemographic profile. Although socio-demographic characteristics compared well with national data, there was an over-representation of educated mothers which may limit the generalizability of the results. From August 2008 through November 2011, comprehensive postnatal assessments were completed at day 2 and at 2, 6, 12 and 24 months. Breastfeeding rates were low, while complementary feeding practices were broadly compliant with national guidelines. The implementation of a national infant vitamin D supplementation policy had a major impact on supplementation practice. Low levels of serum 25(OH)D were universal among Irish neonates. Eczema is a complex and multifaceted disease, which is increasing globally. This was the first report of eczema prevalence data among Irish infants which compared with international reports. Given the high prevalence and considerable burden eczema has on the lives of sufferers, intensive research efforts to identify a cause and therapeutic strategies to prevent/reduce eczema was re-emphasized in this thesis.