Failure to thrive in a girl born into a family affected by familial dysalbuminemic hyperthyroxinemia

Autosomal dominant familial dysalbuminemic hyperthyroxinemia (FDH)is characterized by modified human serum albumin (HSA) inducing asubstantially higher affinity for thyroxine (T4). Histidin or prolinsubstitution on residue R218 produces localized conformationalchanges of HSA creating additional room for T4 binding, leadingto 14-20 fold normal total T4 (TT4) levels. Affected individuals areconsidered euthyroid. Our patient is an 18 months-old swiss girl bornto a mother known for the rare R218P mutation in the HSA gene.She presented with severe failure to thrive (height -2.92 SD, weight-3.6 SD), habitual hip dislocation without anatomical anomaly, latefontanelle closing and protruding ears. Psychomotor development isslightly retarded. Thyroid function testing confirmed extremely high TT4(1446.0 nmol/l) levels, which are similar to her brother's values (1534.4nmol/l and 1757.6 nmol/l respectively). Free T4 seems slightly elevated(26 pmol/l), probably due to methodological reasons. TSH (0.92 mU/l),free T3 (4.4 pmol/l) and thyroxin binding globulin (32 mg/l) are withinthe normal range. Her two half-brothers, affected by the samemutation, are now 18.7 (P1) and 16.6 (P2) years old and wereoriginally described by S. Pannain et al. in 2000. Both werecharacterized by growth retardation (-2.1 and -2.2 SD) before the ageof 4 years. P1 has reached a normal adult height (-0.4 SD) and P2has caught up to normal growth (-0.68 SD) with moderate bonematuration delay. Pubertal development and anterior pituitary functionare adequate. Primary growth and developmental retardation in thefirst years of life with adequate catch-up seem to be a distinctcharacteristic in FDH with R218P mutation. Hip dislocation is typicallyseen in other situations associated to thyroid disorders, like Downsyndrome. These findings might be explained by altered early thyroidhormone utilization in children with FDH.

Iowa's Barriers to Prenatal Care Project, August 2013

The findings in this summary are based on the Iowa Barriers to Prenatal Care project. Ongoing since 1991, the purpose of this project is to obtain brief, accurate information about women delivering babies in Iowa hospitals. Specifically, the project seeks to learn about women’s experiences getting prenatal or delivery care during their current pregnancy. Other information is included which may be pertinent to health planners or those concerned with the systematic development of health care services. This project is a cooperative venture of all of Iowa’s maternity hospitals, the University of Northern Iowa Center for Social and Behavioral Research, and the Iowa Department of Public Health. The Robert Wood Johnson Foundation funded the first three years of this project. The current funding is provided by the Iowa Department of Public Health. The Director is Dr. Mary Losch, University of Northern Iowa Center for Social and Behavioral Research. The Coordinator for the project is Rodney Muilenburg. The questionnaire is distributed to nearly ninety maternity hospitals across the state of Iowa. Nursing staff or those responsible for obtaining birth certificate information in the obstetrics unit are responsible for approaching all birth mothers prior to dismissal and requesting their participation in the study. The questionnaire takes approximately ten minutes to complete. Completed questionnaires are returned to the University of Northern Iowa Center for Social and Behavioral Research for data entry and analysis. Returns are made monthly, weekly, or biweekly depending on the number of births per week in a given hospital. Except in the case of a mother who is too ill to complete the questionnaire, all mothers are eligible to be recruited for participation. The present yearly report includes an analysis of large Iowa cities, African American mothers, and a trend analysis of the last ten years. Also presented in this report is a frequency analysis of all variables included in the 2012 questionnaire. Unless otherwise noted, all entries reflect percentages. Please note that because percentages were rounded, total values may not equal 100%. Data presented are based upon 2012 questionnaires received to date (n = 23,674). All analyses reflect unweighted percentages of those responding.

Gifts of Mars: Warfare and Europe's early rise to riches

Today, per capita income differences around the globe are large ? varying by as much as a factor of 35 across countries (Hall and Jones 1999). These differentials mostly reflect the "Great Divergence" (Sam Huntingon) ? the fact that Western Europe and former European colonies grew rapidly after 1800, while other countries grew much later or stagnated. What is less well-known is that a "First Divergence" preceded the Great Divergence: Western Europe surged ahead of the rest of the world long before technological growth became rapid. Europe in 1500 was already twice as rich on a per capita basis as Africa, and one-third richer than most of Asia (Maddison 2007). In this essay, we explain how Europe's tumultuous politics and deadly penchant for warfare translated into a sustained advantage in per capita incomes.

Huellas de la escritura materna en el español escrito como L2

Siguiendo los Nuevos Estudios de Literacidad y utilizando técnicas etnográficas (observación, entrevistas), criticamos varios aspectos de la concepción cognitiva de la “lectura en idioma extranjero” y proponemos una alternativa más sociocultural, que incorpora las particularidades reseñadas, que ofrece una visión más realista y completa y que pone el acento en el alfabetismo crítico. A partir de entrevistas a hablantes competentes del español como L2, que fueron alfabetizados en una lengua materna tipológicamente muy diferente y con un sistema de escritura distinto, exploramos el efecto que tienen las prácticas literarias escolares, en varias culturas, en el aprendizaje del español como segunda lengua.

Nasal immunization of mice with virus-like particles protects offspring against rotavirus diarrhea.

Rotavirus is the major cause of diarrhea among young infants in both humans and animals. Immune protection of newborns by vaccination is difficult to achieve since there is not enough time to mount an immune response before exposure to the virus. We have designed a vaccination strategy mediating transfer of neutralizing antibodies from the mother to the offspring during pregnancy and/or lactation. Adult female mice were nasally immunized with virus-like particles (VLPs) made of viral proteins VP2 and 6 (VLP2/6) or VP 2, 6, and 7 (VLP2/6/7) derived from the RF rotavirus strain in the presence or absence of cholera toxin. Both vaccines elicited serum and milk antibodies against the respective VPs. Four days after parturition, suckling pups were challenged orally with RF rotavirus. Pups from mothers immunized with VLP2/6/7 but not VLP2/6 were protected against rotavirus diarrhea, indicating that VP7 plays a key role in protection. Protection was mediated by milk rather than serum antibodies, and mucosal adjuvants were not required. In conclusion, VLPs containing VP7 administered nasally to mothers represent a promising vaccine candidate for the protection of suckling newborns against rotavirus-induced diarrhea, even in the absence of a mucosal adjuvant.

Arthrogryposis multiplexa congenita: an epidemiologic study of nearly 9 million births in 24 EUROCAT registers.

OBJECTIVE: To examine the occurrence of arthrogryposis multiplex congenita (AMC) in Europe and to identify possible risk factors. STUDY DESIGN: Retrospective population-based epidemiological study using EUROCAT congenital anomaly registries. The study population included all cases of AMC (based on WHO ICD-9 or ICD-10 codes) that were livebirths (LB), fetal deaths (FD) from 20 weeks gestation and underwent termination of pregnancy for fetal anomaly (TOPFA), 1980-2006. RESULTS: Among 8.9 million births covered by 24 EUROCAT congenital anomaly registries, 757 AMC cases were reported. This gives a prevalence of 8.5 per 100,000. Five hundred and four (67%) AMC cases were LB, 199 (26%) cases were TOPFA, and FD occurred in 54 (7%) cases. First week survival status was known for 381 of the 504 LB (76%), of whom 87 (23%) died within the first week of life. Perinatal mortality associated with AMC was 32%. Two hundred and eighty-two (37%) cases had isolated AMC, 90 (12%) had additional syndrome or chromosomal anomalies and 385 (51%) had other major malformations. The same or similar anomaly was reported in 13% of siblings and in 12% of the mother's own family background. Information on prenatal testing was available for 521 cases of which 360 tested positive for a congenital anomaly, representing a sensitivity of 69%. Information on maternal illness before and during pregnancy and medication use in the first trimester was available for approximately a third of the mothers, of whom the vast majority reported no maternal illness or medication use. CONCLUSION: AMC is a rare occurrence, with a reported prevalence of 1:12,000. In this study, while information on potential risk factors such as maternal disease or maternal use of drugs was limited, they did not appear to be associated with the occurrence of AMC. AMC was lethal in a third of cases, either in utero or during the first week of life, although this may not be solely attributed to AMC as most cases had additional malformations.

Experiencias vividas por niños y niñas con cáncer a través de la musicoterapia: un proyecto de acción- participación

Justificación: este trabajo muestra una mirada más profunda acerca de cómo viven los niños y niñasla experiencia de vivir con el Cáncer, enfermedad que representa la primera causa de mortalidadentre los 5-14 años, en Cataluña.El profesional de Enfermería es clave en indagar y reflexionar acerca de la experiencia, y endesarrollar el papel que juega la intervención enfermera denominada Musicoterapia comoherramienta de expresión y comunicación, para descubrir que hay detrás de su realidad.Indagar en este contexto puede contribuir a mejorar la calidad de vida del colectivo infantil inmersoen la patología.Objetivo: conocer cómo viven la experiencia oncológica los niños y niñas, utilizando comoherramienta de trabajo la Musicoterapia en el escenario del Hospital Materno-Infantil Vall d´Hebrónde Barcelona.Diseño: proyecto de Investigación Acción-Participativa (IAP), enmarcado en el paradigma cualitativo.Metodología: se llevó a cabo una búsqueda en bases de datos: Pubmed, CINAHL, Cuiden, Cuidatge,entre otras y diferentes fuentes de información. Los sujetos de estudio fueron 14 niños y niñas entre8 y 12 años de edad ingresados en la planta de Oncología durante al menos 8 semanas. Para larecogida de datos se utilizaron las siguientes estrategias: entrevistas semiestructuradas, notas decampo y grupos de discusión.En cuanto al análisis mencionar que se siguió un riguroso trabajo para asignar unidades de significadoa la información obtenida.Consideraciones finales: Este proyecto ha permitido avanzar hacia el conocimiento enfermero yprofundizar en el cuidado holístico de los niños.

Conocimiento del método anticonceptivo de lactancia y amenorrea (MELA) en gestantes residentes en Logroño

El rol de la mujer ha evolucionado a ser el de una madre y trabajadora a la vez, originandocambios en las expectativas a la hora de tener descendencia, retrasando la edad de tener hijosy decidiendo crear núcleos pequeños 1, 2. Uno de los paradigmas enfermeros que se tiene encuenta en estas situaciones es el del autocuidado, por lo que como profesional en el campo dela planificación familiar, una de las labores es ofrecer información sobre los métodosanticonceptivos, adaptándolos a cada persona y en cada momento, según la situacióneconómica, social, física o emocional. De esta forma se podrían evitar los embarazos nodeseados y los maltratos infantiles. Uno de los métodos anticonceptivos naturales, que estáintegrado en la planificación familiar, es el método anticonceptivo lactancia-amenorrea. Éstees un método está basado en la fertilidad de la mujer cuando está realizando lactanciamaterna exclusiva.En este trabajo se propone investigar cuál es el grado de conocimiento que tienen las futurasmadres en la actualidad sobre este método anticonceptivo, ya que esto nos servirá de guíapara ofrecer la información necesaria, pudiendo reforzar los puntos débiles que se puedandetectar con éste estudio. Se propone un estudio multicéntrico, cuantitativo, observacional,descriptivo de corte transversal. Se administrará un cuestionario autoadministrado diseñado ad hoc, en una muestra de 148 gestantes durante el tercer trimestre (semana 32-38 de gestación), residentes en Logroño.

¿La incidencia de la pobreza discrimina por razones de género? : Análisis de los factores determinantes en el caso español

El presente trabajo traslada el debate académico alrededor del mayor riesgo de pobreza que afrontan las mujeres en relación a los hombres al contexto español. Tras una breve revisión bibliográfica de los datos disponibles sobre la pobreza femenina en países industrializados y sus posibles causantes, se ponen a prueba esos mismos factores potencialmente culpables en el caso español. Del EU-SILC de 2010 se ha sacado una muestra formada únicamente por mujeres y hombres que o bien viven solos o con hijos a su cargo y, partiendo de ella, el método de la regresión logística ha concluido que hay factores exclusivamente explicativos de la pobreza femenina. Ser madre soltera, ser joven (entre 16 y 25 años) y no haber nacido en España tienen una importante capacidad explicativa de la pobreza femenina mientras no son significativas como explicación de la pobreza masculina. Si a estos factores añadimos no tener un trabajo, un bajo logro educativo y no recibir ningún subsidio individual, obtenemos un conjunto de factores que explican un 26.8% de los casos de mujeres españolas pobres que viven solas o son madres solteras. Estos datos ponen de relieve la necesidad de más investigaciones al respecto que consigan un mayor poder explicativo.

Parents - child role reversal in trilogue play: case studies of trajectories from pregnancy to toddlerhood

Role reversal, whereby a child attempts to meet her parent's adult needs for parenting, intimacy, or companionship, has been identified as a risk factor for developmental disturbances. It has been defined from diverse perspectives as a child attachment strategy, a parent - toddler relational disturbance, and a boundary disturbance between parents and child. The recently discovered infant's triangular capacity, namely the sharing of her attention and affects with both parents, allows one to analyse the infant's contribution to early family dynamics. Role reversal was detected in 4 out of 45 father - mother - infant interactions observed in trilogue play from pregnancy to toddlerhood. The developmental trajectories towards role reversal are explored by means of case analyses. Results are compared with cases of problematic triangulation encountered in the same sample. In role reversal, family interactions are rigidly organized around a "two against one" coalition, whereby the normative hierarchy between parents and child is reversed. The child's triangular capacity is overactivated, controlling the tension between her parents by provocation - animation strategies

Is use of nifurtimox for the treatment of Chagas disease compatible with breast feeding? A population pharmacokinetics analysis.

Introduction Women with Chagas disease receiving treatment with nifurtimox are discouraged from breast feeding. Many patients who would receive treatment with nifurtimox live in extreme poverty, have limited access to resources such as clean water and baby formula and may not have safe alternatives to breast milk. Aim We aimed to estimate, using limited available pharmacokinetics data, potential infant exposure to nifurtimox through breast milk. Methods Original nifurtimox plasma concentrations were obtained from published studies. Pharmacokinetic parameters were estimated using non-linear mixed-effect modelling with NONMEM V.VI. A total of 1000 nifurtimox plasma-concentration profiles were simulated and used to calculate the amount of drug that an infant would be exposed to, if breast fed 150 ml/kg/day. Results Breast milk concentrations on the basis of peak plasma levels (1361 ng/ml) and milk-plasma ratio were estimated. We calculated infant nifurtimox exposure of a breastfed infant of a mother treated with this drug to be below 10% of the maternal weight-adjusted dose, even if milk-plasma ratio were overestimated. Simulation led to similar estimates. Discussion Risk for significant infant exposure to nifurtimox through breast milk seems small and below the level of exposure of infants with Chagas disease receiving nifurtimox treatment. This potential degree of exposure may not justify discontinuation of breast feeding.

Determinants of vaccine immunity in the cohort of human immunodeficiency virus-infected children living in Switzerland.

BACKGROUND: Human immunodeficiency virus (HIV)-infected children are at increased risk of infections caused by vaccine preventable pathogens, and specific immunization recommendations have been issued. METHODS: A prospective national multicenter study assessed how these recommendations are followed in Switzerland and how immunization history correlates with vaccine immunity. RESULTS: Among 87 HIV-infected children (mean age: 11.1 years) followed in the 5 Swiss university hospitals and 1 regional hospital, most (76%) had CD4 T cells >25%, were receiving highly active antiretroviral treatment (79%) and had undetectable viral load (60%). Immunization coverage was lower than in the general population and many lacked serum antibodies to vaccine-preventable pathogens, including measles (54%), varicella (39%), and hepatitis B (65%). The presence of vaccine antibodies correlated most significantly with having an up-to-date immunization history (P<0.05). An up-to-date immunization history was not related to age, immunologic stage, or viremia but to the referral medical center. CONCLUSIONS: All pediatricians in charge of HIV-infected children are urged to identify missing immunizations in this high-risk population.

English grammar games in primary education

The purpose of this study was to analyse pupils’ English grammar acquisition from competitive and cooperative approaches. After searching a wide range of authors’ contribution to English language learning, grammar acquisition, classroom environment and language games. A hundred and twenty pupils from three schools; two from Ripoll and one from Campdevànol were enrolled in a specific grammar games intervention. This was imparted in three different phases: first of all, I interviewed the three teachers from the three schools, then I put into practice my competitive and cooperative games which I designed especially for this study (all the sessions were carried, assessed and registered by myself); finally, all pupils answered a questionnaire related to their experiences in my grammar games intervention. Analysis of teaching interventions showed that, in terms of English language acquisition, pupils used different strategies to show up understanding and achieve the objective of the game such as: recalling their background knowledge, expressing sentences influenced by their internal language and their mother tongue. Data collected revealed that most difficulties were founded in team work, even more in competitive games. The results also showed that team work is something which has to be developed step by step in order to achieve language learning and all pupils’ active participation successfully.

Lack of MRI neurohypophyseal bright signal in a child with congenital nephrogenic diabetes insipidus

Congenital nephrogenic diabetes insipidus (CNDI) is a rare disease characterized by the inability of the kidney to respond to arginine vasopressin (AVP). The absence of the neurohypophyseal 'bright signal' on T1 sequence magnetic resonance imaging (MRI) is considered as an argument in favour of the diagnosis of central diabetes insipidus (CDI). This observation is challenged as we hereby present a case of a child diagnosed with CNDI and who did not present MRI pituitary bright signal. A 6-month-old male presented with failure to thrive, polyuria and polydypsia. Family history revealed that the mother, 35 years of age, had been presenting polydypsia and polyuria, and she was investigated at the age of 6 years with no concluding diagnosis. The patient's physical exam showed a weight of 5215 g (−3 DS) and clinical signs of dehydration. The patient's plasma sodium level was 155 mmol/L, osmolality 305 mOsm/kg and urine osmolality 150 mOsm/kg. Brain MRI showed in T1 sequences the absence of the posterior pituitary bright signal suggesting the diagnosis of CDI (Figure 1). The child was treated with synthetic AVP analogue 1-desamino-8-d-arginine vasopressin (DDAVP) without improvement, which led to the consideration of CNDI. The diagnosis was confirmed by an elevated serum level of AVP of 214 pmol/L (reference value ≤4.34 pmol/L) and by genetic analysis demonstrating and T106C mutation in the V2R (X-linked CNDI). The child was treated with thiazide diuretic and increased fluids with restricted sodium intake. This resulted in catch-up growth and improved neurological development. A follow-up MRI was performed 6 months after the start of therapy with the same technique. At that time, the child's weight had improved to 9310 g (−1.5 DS) corresponding to a gain of 22 g per day, and he did not present any clinical signs of dehydration and had a normal plasma level of sodium (140 mmol/L). MRI showed that the bright signal was still absent.

Free and total plasma levels of lopinavir during pregnancy, at delivery and postpartum: implications for dosage adjustments in pregnant women.

BACKGROUND: Physiological changes associated with pregnancy may alter antiretroviral plasma concentrations and might jeopardize prevention of mother-to-child HIV transmission. Lopinavir is one of the protease inhibitors more frequently prescribed during pregnancy in Europe. We described the free and total pharmacokinetics of lopinavir in HIV-infected pregnant and non-pregnant women, and evaluated whether significant alterations in its disposition and protein binding warrant systematic dosage adjustment. METHODS: Plasma samples were collected at first, second and third trimester of pregnancy, at delivery, in umbilical cord and postpartum. Lopinavir free and total plasma concentrations were measured by HPLC-MS/MS. Bayesian calculations were used to extrapolate total concentrations to trough (Cmin). RESULTS: A total of 42 HIV-positive pregnant women and 37 non-pregnant women on lopinavir/ritonavir were included in the study. Compared to postpartum and control values, total lopinavir Cmin was decreased moderately (31-39%) during pregnancy, and free Cmin minimally, showing significant alteration only at delivery (-35%). However, total and free Cmin remained in all patients above the target concentrations for wild-type virus of 1,000 ng/ml, and above the unbound IC50(WT) of 0.64-0.77 ng/ml of lopinavir, respectively. Lopinavir free fractions remained higher during pregnancy compared to postpartum and controls, and were influenced by α-1-acid-glycoprotein and albumin decrease. Free cord-to-mother ratio (0.43) was 2.7-fold higher than total cord-to-mother ratio (0.16), suggesting higher fetal exposure. CONCLUSIONS: The moderate decrease of total lopinavir concentrations during pregnancy is not associated with proportional decrease in free concentrations. Both reach a nadir at delivery, albeit not to an extent that would put treatment-naive women at risk of insufficient exposure to the free, pharmacologically active concentrations of lopinavir. No dosage adjustment is therefore needed during pregnancy as it is unlikely to further enhance treatment efficacy but could potentially increase the risk of maternal and fetal toxicity. Nonetheless, in case of viral resistance in treatment-experienced pregnant women, loss of virological control or questionable adherence, it is justified to consider lopinavir dosage adjustment based on total plasma concentration measurement.