A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant

Noonan syndrome is a relatively common and heterogeneous genetic disorder, associated with congenital heart defect in about 50% of the cases. If the defect is not severe, life expectancy is normal. We report a case of Noonan syndrome in a preterm infant with hypertrophic cardiomyopathy and lethal outcome associated to acute respiratory distress syndrome caused by Adenovirus pneumonia. A novel mutation in the RAF1 gene was identified: c.782C>G (p.Pro261Arg) in heterozygosity, not described previously in the literature. Consequently, the common clinical course in this mutation and its respective contribution to the early fatal outcome is unknown. No conclusion can be established regarding genotype/phenotype correlation.

Fatal methadone intoxication in an infant listed as a homicide.

Voluntary methadone administration for the purpose of sedation eventually resulting in the infant's death is extremely infrequent, though it has been observed. In this report, we describe an autopsy case pertaining to a 32-month-old infant who was repeatedly exposed to methadone by his parents. Autopsy revealed a coarctation of the aorta with a focal stenosis located at the junction of the distal aortic arch and the descending aorta. Left ventricular hypertrophy was also observed. Both these findings were considered to not have played a role in the child's death. Methadone was detected in the femoral blood (0.633 mg/l), urine (5.25 mg/l), bile (2.64 mg/l), and gastric contents (1.08 mg). A segmental hair analysis showed the presence of methadone and morphine in both the proximal and distal portion of the lock. Methadone was also detected in nail samples. A segmental hair analysis performed on the younger brother of the deceased revealed the presence of methadone and morphine in both the proximal and distal segments, as well as the presence of 6-monoacetylmorphine exclusively in the distal portion. Though the parents denied any involvement in methadone administration or exposure for the purpose of sedation, the manner of death was listed as homicide. The case emphasizes the usefulness of hair analysis to identify threatening situations for the children of drug-dependent parents and possibly support measures by the authorities to recognize and intervene in these potentially fatal situations.

Association of type of birth attendant and place of delivery on infant mortality in sub-Saharan Africa.

Objective: To examine the association between type of birth attendant and place of delivery, and infant mortality (IM). Methods: This cross-sectional study used self-reported data from the Demographic Health Surveys for women in Ghana, Kenya, and Sierra Leone. Logistic regression estimated odds ratios (ORs) and95% confidence intervals. Results: In Ghana and Sierra Leone, odds of IM were higher for women who delivered at a health facility versus women who delivered at a household residence (OR=3.18, 95% confidence interval, CI: 1.29-7.83, p=0.01 and OR=1.62, 95% CI: 1.15-2.28, p=0.01, respectively). Compared to the use of health professionals, the use of birth attendants for assistance with delivery was not significantly associated with IM for women in Ghana or Sierra Leone (OR=2.17, 95% CI: 0.83-5.69, p=0.12 and OR=1.25, 95% CI: 0.92-1.70, p=0.15, respectively). In Kenya, odds of IM, though nonsignificant, were lower for women who used birth attendants than those who used health professionals to assist with delivery (OR=0.85, 95% CI: 0.51-1.41, p=0.46), and higher with delivery at a health facility versus a household residence (OR=1.29, 95% CI: 0.81-2.03, p=0.28). Conclusions: Women in Ghana and Sierra Leone who delivered at a health facility had statistically significant increased odds of IM. Birth attendant type-IM associations were not statistically significant.Future research should consider culturally-sensitive interventions to improve maternal health and help reduce IM.

Time-trends in infant mortality rates in the southern Europe

Infant Mortality Rate (IMR) has been considered an important health indicator in monitoring quality of health care. Objectives: To examine trends in IMR in Southern Europe (SE) over the last two decades. Methods: Number of live births and infant deaths reported for SE (Portugal, Italy, Greece and Spain) between 1990 and 2013 were abstracted from World Health Organization Database. Annual IMR per 1,000 live births was computed for each country and for SE as a whole. Joinpoint regression models were used to estimate average annual percent change (AAPC) in IMR and respective 95% Conidence Interval (95% CI) and to identify points in time when signiicant changes in trend occurred (joinpoints). Results: Between 1990 and 2013, IMR signiicantly decreased from 9.2 to 3.4 in SE and the highest decrease was observed from 1992 to 1998 (AAPC = -6.1%; 95%CI: -6.5%; -5.8%). Signiicant decline in IMR was observed in all countries but the pattern was different across countries. IMR varied across countries between 11.5 and 8.3 and between 3.1 and 3.8 in 2013; highest IMR were observed in Portugal for 1990 and in Greece for 2013. Most notable decreases in IMR were observed from 1990 to 1995 in Portugal (AAPC = -8.4% 95%CI: -8.8; -8.1), from 1993 to 1997 in Italy (AAPC = -6.6% 95%CI: -7.8; -5.5) from 1998 to 2006 in Greece (AAPC = -6.8% 95%CI: -7.0; -6.5), and from 1993 to 1996 in Spain (AAPC = -7.3% 95%CI: -9.0; -5.6). Decreases in IMR were signiicant during all time period in Italy and Greece but in Portugal and Spain IMR became unchangeable after 2010-2011. Conclusions: Decrease in IMR in countries of SE suggests steadily improvement in the quality of health care. However differences in the pattern of decrease across countries during the last years deserve particular attention.

Opisthorchiasis in infant remains from the medieval Zeleniy Yar burial ground of XII-XIII centuries AD

We present a paleoparasitological analysis of the medieval Zeleniy Yar burial ground of the XII-XII centuries AD located in the northern part of Western Siberia. Parasite eggs, identified as eggs of Opisthorchis felineus, were found in the samples from the pelvic area of a one year old infant buried at the site. Presence of these eggs in the soil samples from the infant’s abdomen suggests that he/she was infected with opisthorchiasis and imply consumption of undercooked fish. Ethnographic records collected among the population of the northern part of Western Siberia reveal numerous cases of feeding raw fish to their children. Zeleniy Yar case of opisthorchiasis suggests that this dietary custom has persisted from at least medieval times.

Maternal Age and Infant Mortality for White, Black, and Mexican Mothers in the United States

Funding for Open Access provided by the UMD Libraries Open Access Publishing Fund.

The Effects of Instrumental Touching on Infant Pain Perception and the Effects of Eutectic Mixture of Local Anesthetics (EMLA) on the Reduction of Pain

Background: Premature infants, who have to spend the first week of their lives in neonatal intensive care units (NICUs), experience pain and stress in numerous cases, and they are exposed to many invasive interventions. The studies have shown that uncontrolled pain experienced during early life has negative and long-term side effects, such as distress, and such experiences negatively affect the development of the central nervous system Objectives: The purpose of the study was to examine the effects of touching on infant pain perception and the effects of eutectic mixture of local anesthetic (EMLA) on the reduction of pain. Patients and Methods: Data for the study were collected between March and August 2012 from the neonatal clinic of a university hospital located in eastern Turkey. The population of the study consisted of premature infants who were undergoing treatment, completed the first month and who were approved for Hepatitis B vaccine. The study consisted of two experimental groups and one control group. Information forms, intervention follow-up forms, and Premature Infant Pain Profile (PIPP) were used to collect the data. EMLA cream was applied on the vastus lateralis muscles of the first experimental group before the vaccination. The second experimental group was vaccinated by imitation (placebo), without a needle tip or medicine. Vaccination was carried out using instrumental touch in this group. A routine vaccination was applied in the control group. Results: Mean pain scores of the group to which EMLA was applied were lower in a statistically significant way (P < 0.05) compared to the pain scores of the other groups. Moreover, it was determined that even though invasive intervention was not applied to the newborns, the touching caused them to feel pain just as in the placebo group (P < 0.005). Conclusions: The results demonstrated that EMLA was an effective method for reducing pain in premature newborns, and the use of instrumental touch for invasive intervention stimulated the pain perception in the newborns.

Submucosal Hemangioma of the Trachea in an Infant: Diagnosis and Follow-Up with 3D-CT/Bronchoscopy

Introduction: Infantile hemangiomas of the airway are diagnosed at bronchoscopy as part of the investigation of stridor or other respiratory symptoms. Here, we present three-dimensional computed tomography (3D-CT)/bronchoscopy findings of submucosal subglottic hemangioma missed at bronchoscopy. Case Presentation: We report on the clinical usefulness of 3D-CT/bronchoscopy as the primary diagnostic tool and follow-up method in the evaluation of suspected airway infantile hemangiomas, especially when the hemangioma is the submucosal type. Conclusions: 3D-CT/bronchoscopy will reduce the need for invasive laryngoscopic studies and help to diagnose submucosal hemangiomas undetected on laryngoscope. Additionally, 3D-CT/bronchoscopy will help evaluating the extent of the lesion, degree of airway narrowing, and treatment response.

Cosmic Explosions: Observations Of Infant Hydrogen-Free Supernovae Towards An Understanding Of Their Parent Systems

Radiation in the first days of supernova explosions contains rich information about physical properties of the exploding stars. In the past three years, I used the intermediate Palomar Transient Factory to conduct one-day cadence surveys, in order to systematically search for infant supernovae. I show that the one-day cadences in these surveys were strictly controlled, that the realtime image subtraction pipeline managed to deliver transient candidates within ten minutes of images being taken, and that we were able to undertake follow-up observations with a variety of telescopes within hours of transients being discovered. So far iPTF has discovered over a hundred supernovae within a few days of explosions, forty-nine of which were spectroscopically classified within twenty-four hours of discovery.

Our observations of infant Type Ia supernovae provide evidence for both the single-degenerate and double-degenerate progenitor channels. On the one hand, a low-velocity Type Ia supernova iPTF14atg revealed a strong ultraviolet pulse within four days of its explosion. I show that the pulse is consistent with the expected emission produced by collision between the supernova ejecta and a companion star, providing direct evidence for the single degenerate channel. By comparing the distinct early-phase light curves of iPTF14atg to an otherwise similar event iPTF14dpk, I show that the viewing angle dependence of the supernova-companion collision signature is probably responsible to the difference of the early light curves. I also show evidence for a dark period between the supernova explosion and the first light of the radioactively-powered light curve. On the other hand, a peculiar Type Ia supernova iPTF13asv revealed strong near-UV emission and absence of iron in the spectra within the first two weeks of explosion, suggesting a stratified ejecta structure with iron group elements confined to the slow-moving part of the ejecta. With its total ejecta mass estimated to exceed the Chandrasekhar limit, I show that the stratification and large mass of the ejecta favor the double-degenerate channel.

In a separate approach, iPTF found the first progenitor system of a Type Ib supernova iPTF13bvn in the pre-explosion HST archival mages. Independently, I used the early-phase optical observations of this supernova to constrain its progenitor radius to be no larger than several solar radii. I also used its early radio detections to derive a mass loss rate of 3e-5 solar mass per year for the progenitor right before the supernova explosion. These constraints on the physical properties of the iPTF13bvn progenitor provide a comprehensive data set to test Type Ib supernova theories. A recent HST revisit to the iPTF13bvn site two years after the supernova explosion has confirmed the progenitor system.

Moving forward, the next frontier in this area is to extend these single-object analyses to a large sample of infant supernovae. The upcoming Zwicky Transient Facility with its fast survey speed, which is expected to find one infant supernova every night, is well positioned to carry out this task.

Variations between post- and pre-harvest seasons in stunting, wasting, and Infant and Young Child Feeding (IYCF) practices among children 6-23 months of age in lowland and midland agro-ecological zones of rural Ethiopia

Introduction: Food availability and access are strongly affected by seasonality in Ethiopia. However, there are little data on seasonal variation in Infant and Young Child Feeding (IYCF) practices and malnutrition among 6-23 months old children in different agro-ecological zones of rural Ethiopia. Methods: Socio-demographic, anthropometry and IYCF indicators were assessed in post- and pre-harvest seasons among children aged 6–23 months of age randomly selected from rural villages of lowland and midland agro-ecological zones. Results: Child stunting and underweight increased from prevalence of 39.8% and 26.9% in post-harvest to 46.0% and 31.8% in pre-harvest seasons, respectively. The biggest increase in prevalence of stunting and underweight between post- and pre-harvest seasons was noted in the midland zone. Wasting decreased from 11.6% post-harvest to 8.5% pre-harvest, with the biggest decline recorded in the lowland zone. Minimum meal frequency, minimum acceptable diet and poor dietary diversity increased considerably in pre-harvest compared to post-harvest season in the lowland zone. Feeding practices and maternal age were predictors of wasting, while women’s dietary diversity and children age was predictor of child dietary diversity in both seasons. Conclusion: There is seasonal variation in malnutrition and IYCF practices among children 6-23 months of age with more pronounced effect in midland agro-ecological zone. A major contributing factor for child malnutrition may be poor feeding practices. Health information strategies focused on both IYCF practices and dietary diversity of mothers could be a sensible approach to reduce the burden of child malnutrition in rural Ethiopia.

Establishment and development of infant gut microbiota

The nascent gut microbiota at birth is established in concert with numerous developmental parameters. Here, in the INFAMTET study, we chronicled the impact of some factors which are key determinants of the infant gut microbiota, namely; mode of birth, gestational age, and type of feeding. We determined that the aggregated microbiota profile of naturally delivered, initially breastfed infants are relatively stable from one week to six months of age and are not significantly altered by increased duration of breastfeeding. Contrastingly, there is significant development of the microbiota profile of C-section delivered infants, and this development is significantly influenced by breastfeeding duration. Preterm infants, born by either mode of birth, initially have a high proportion of Proteobacteria, and demonstrate significant development of the gut microbiota from week 1 to later time-points. The microbiota is still slightly, but significantly, affected by birth mode at one year of age although no specific genera were found to be significantly altered in relative abundance. By two years of age, there is no effect of either birth mode or gestational age. However this does not preclude the possibility that symptoms developed later in life, which are associated with preterm or C-section birth, are as a result of the early perturbation of the neonatal gut microbiota. It is likely that the combination of relatively low exposure (breast fed), high exposure (formula fed) or delayed exposure (C-section and preterm) to specific antigens and the resulting inflammatory responses, in this crucial window of host-microbiota interaction, influence systemic health of the individual throughout life.

Infant nutrition 6-12 months

Babies’ growth, development and nutrition needs vary in each stage of infancy. At six months of age, most babies are ready to begin eating solid foods of soft consistency. This brochure discusses signs your baby is ready to start solids, food basics, eating safely and successful weaning. A suggested meal plan chart is included.

Teacher-child relationship quality for young children with parent reported language concerns

Previous research has demonstrated the importance of the qualities of the teacher-child relationship on children’s development. Close teacher-child relationships are especially important for children at risk. Positive relationships have been shown to have beneficial effects on children’s social and academic development (Birch & Ladd, 1997; Pianta & Stuhlman, 2004). Children with language difficulties are likely to face increased risks with regard to long term social and academic outcomes. The purpose of the current research was to gain greater understanding of the qualities of teacher-child relationships for young children with parent reported language concerns. The research analyses completed for this thesis involved the use of data from the public-access database of Growing Up in Australia: The Longitudinal Study of Australian Children (LSAC). LSAC is a longitudinal study involving a nationally representative sample of 10,000 Australian children. Data are being collected biennially from 2004 (Wave 1 data collection) until 2010 (Wave 4 data collection). LSAC has a cross-sequential research design involving two cohorts, an infant cohort (0-1 year at age of recruitment) and a kindergarten cohort (4-5 years at age of recruitment). Two studies are reported in this thesis using data for the LSAC Kindergarten Cohort which had 4983 child participants at recruitment. Study 1 used Wave 1 data to identify the differences between teacher-child relationship qualities for children with parent reported language concerns and their peers. Children identified by parents for whom concerns were held about their receptive and expressive language, as measured by items from the Parents’ Evaluation of Developmental Status (PEDS) (Glascoe, 2000) were the target (at risk) group in the study (n = 210). A matched case control group of peers (n = 210), matched on the child characteristics of sex, age, cultural and linguistic differences (CALD), and socio-economic positioning (SEP), were the comparison group for this analysis. Teacher-child relationship quality was measured by teacher reports on the Closeness and Conflict scales from the short version of the Student-Teacher Relationship Scale (STRS) (Pianta, 2001). There were statistically significant differences in the levels of closeness and conflict between the two groups. The target group had relationships with their teachers that had lower levels of closeness and higher levels of conflict than the control group. Study 2 reports analyses that examined the stability of the qualities of the teacher-child relationships at Wave 1 (4-5 years) and the qualities of the teacher-child relationships at Wave 2 (6-7 years). This time frame crosses the period of the children’s transition to school. The study examined whether early patterns in the qualities of the teacher-child relationship for children with parent reported language concerns at Wave 1 predicted the qualities of the teacher-child relationship outcomes in the early years of formal school. The sample for this study consisted of the group of children identified with PEDS language concerns at Wave 1 who also had teacher report data at Wave 2 (n = 145). Teacher-child relationship quality at Wave 1 and Wave 2 was again measured by the STRS scales of Closeness and Conflict. Results from multiple regression models indicated that teacher-child relationship quality at Wave 1 significantly contributed to the prediction of the quality of the teacher-child relationship at Wave 2, beyond other predictor variables included in the regression models. Specifically, Wave 1 STRS Closeness scores were the most significant predictor for STRS Closeness scores at Wave 2, while Wave 1 STRS Conflict scores were the only significant predictor for Wave 2 STRS Conflict outcomes. These results indicate that the qualities of the teacher-child relationship experienced prior to school by children with parent reported language concerns remained stable across transitions into formal schooling at which time the child had a different teacher. The results of these studies provide valuable insight into the nature of teacher-child relationship quality for young children with parent reported language concerns. These children experienced teacher-child relationships of a lower quality when compared with peers and, additionally, the qualities of these relationships prior to formal schooling were predictive of the qualities of the relationships in the early years of formal schooling. This raises concerns, given the increased risks of poorer social and academic outcomes already faced by children with language difficulties, that these early teacher-child relationships have an impact on future teacher-child relationships. Results of these studies are discussed with these considerations in mind and also discussed in terms of the implications for educational theory, policy and practice.

Identifying developmental problems in young children

Although some developmental disabilities may be identified soon after birth (e.g. Down Syndrome) many problems do not become apparent until much later. The first indication of a significant disorder may be the infant's failure to achieve early developmental milestones at the expected ages, but the variability and subtlety of symtoms in many developmental disorders often makes them difficult to recognise. Clearly itis desirable to identify developmental problems as early as possible to ensure the provision of appropriate support and intervention services and to lessen the impact on subsequent development.