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.

A cultura afro-brasileira e indígena na sala de aula: reflexões e diálogos dos educandos do ensino básico de Rio Grande-RS

A presente pesquisa teve por objetivo verificar como os educandos dos Oitavos e Nonos anos como também dos terceiros anos do ensino regular ou EJA das três escolas públicas da cidade do Rio Grande- RS, participantes do projeto, assimilam e entendem determinados conceitos como por exemplo Diversidade Cultural, Religiosa, Política e Étnico Racial, para podermos compreender como a Lei 11645/2008 pode contribuir para a real aplicação e reconhecimento da Cultura Afro Brasileira e Indígena durante todo o ano letivo e não somente em algumas datas comemorativas. A postura do educador em questão é de extrema importância para a aplicação da Lei em nossas escolas riograndinas como as demais instituições públicas de nosso país, pois, o maior objetivo é conceder aos educandos a oportunidade de acesso à história contada por pessoas e povos negros e indígena.

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.

Vidas à margem : relações de gênero, etnia e espaço na narrativa afro-brasileira contemporânea

Dissertação (mestrado)—Universidade de Brasília, Instituto de Letras, Programa de Pós-Graduação em Literatura, 2016.

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.

ETHNIC MINORITIES AND HUMAN RIGHTS VIOLATIONS THE AFRO-COLOMBIAN CASE1

ResumenLa discriminación racial, la pobreza y la exclusión social son problemas estructurales que han afectadoa las minorías étnicas colombianas por décadas. De los grupos minoritarios del país, los(as)afrocolombianos(as) experimentan el más alto nivel de pobreza, hecho que se demuestra en sulimitado acceso a las políticas de educación, salud, empleo y demás servicios públicos y programassociales. De hecho, las regiones con fuerte presencia afrocolombiana presentan los peores indicadoressocio-económicos y la mayor parte de las víctimas (directas) del conflicto armado internoque afecta a la nación son las comunidades afrocolombianas. Las violaciones de derechos humanos contra los(as) afrocolombianos(as) han sido cometidas tanto por instituciones del Estado comopor actores no-estatales. Dichas violaciones son prohibidas por la Constitución Nacional y por lostratados de derechos humanos ratificados por el Estado colombiano. Sin embargo, los efectos de lasmismas siguen sin ser analizados a profundidad. En este texto se estudia en detalle las normas dederechos humanos que buscan proteger a la población afrocolombiana como grupo étnico minoritario.También se estudian las principales consecuencias de las prácticas racistas contra las comunidadesafrocolombianas y los retos de éstas en el marco del conflicto armado interno. El artículo se convierteen una de las pocas investigaciones que explica la compleja situación de derechos humanos de lascomunidades afrocolombianas en la historia reciente del país.Palabras clave: Afrocolombianos(as), minorías, derechos y discriminación. AbstractRacial discrimination, poverty and social exclusion are structural problems that have affected the Colombianethnic minorities for decades. Among these minority groups, Afro-Colombians experience the highest levelof poverty, which is demonstrated by their limited access to education, health, employment, and other socialprograms and services. In fact, most regions with Afro-Colombian presence endure the worst socio-economicindicators, and the main victims of the internal armed conflict are the Afro-Colombian communities. Humanrights violations against Afro-Colombians have been committed by both state and non-state actors.These violations are prohibited by the new Colombian Constitution (approved in 1991) and human rightstreaties ratified by the Colombian state. However, their effects on Afro-Colombians have not been extensivelyexplored. This paper analyzes in depth the domestic human rights framework that seeks the protectionof Afro-Colombians as an ethnic minority. Also, it studies in detail the consequences of racist practicestowards the Afro-Colombian communities and the challenges of their struggle for human rights in the frameof the internal armed conflict. The text represents one of the few works of its kind that explains the mainaspects of the complex human rights situation of Afro-Colombians throughout the nation’s recent history.Keywords: Afro-Colombians, minorities, rights and discrimination.