Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.

It is not unusual for patients with "rare" conditions, such as skeletal dysplasias, to remain undiagnosed until adulthood. In such cases, a pregnancy may unexpectedly reveal hidden problems and special needs. A 28 year old primigravida was referred to us at 17 weeks for counselling with an undiagnosed skeletal dysplasia with specific skeletal anomalies suggesting the collagen 2 disorder, spondyloperipheral dysplasia (SPD; MIM 156550).She was counselled about the probability of dominant inheritance and was offered a prenatal diagnosis by sonography. US examination at 17, 18 and 20 weeks revealed fetal macrocephaly, a narrow thorax, and shortening and bowing of long bones. The parents elected to continue the pregnancy. At birth the baby showed severe respiratory distress for four weeks which then resolved. Mutation analysis of both mother and child revealed a hitherto undescribed heterozygous nonsense mutation in the C-propeptide coding region of COL2A1 confirming the diagnosis of SPD while reinforcing the genotype-phenotype correlations between C-propeptide COL2A1 mutations and the SPD-Torrance spectrum. This case demonstrates the importance of a correct diagnosis even in adulthood, enabling individuals affected by rare conditions to be made aware about recurrence and pregnancy-associated risks, and potential complications in the newborn.

Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract.

OBJECTIVE: To genetically and phenotypically describe a new ADAM9 homozygous mutation in a consanguineous family from Egypt with autosomal recessive cone-rod dystrophy (arCRD), anterior polar and posterior subcapsular cataract. DESIGN, SETTING AND PARTICIPANTS: The parents and their six children were included. They underwent a complete ophthalmic examination with fundus photography and optical coherence tomography (OCT). INTERVENTION: DNA was extracted from peripheral blood from all family members. Screening for mutations in genes known to be implicated in retinal disorders was done with the IROme, an in-solution enrichment array, followed by high-throughput sequencing. Validation of the results was done by bidirectional Sanger sequencing of ADAM9 exon 14, including exon-intron junctions. Screening of normal controls was done by denaturing high-performance liquid chromatography. RESULTS: arCRD was diagnosed in the mother and two of her children. Bilateral anterior polar and posterior subcapsular cataract was observed in the mother and bilateral dot cataract was diagnosed in three of the four children not affected with arCRD, one of whom also had glaucoma. The characteristics of the arCRD were childhood-onset visual impairment, reorganisation of the retinal pigment epithelium with mid-periphery greyish-white discolouration, attenuated retinal vasculatur and optic disc pallor. A coloboma-like macular lesion was observed in one of the arCRD-affected children. IROme analysis identified a c.1396-2A>G homozygous mutation in the splice acceptor site of intron 13 of ADAM9. This mutation was homozygous in the two children affected by arCRD and in their affected mother. This mutation was heterozygous in the unaffected father and the four unaffected children. CONCLUSIONS AND RELEVANCE: We identified a novel autosomal recessive ADAM9 mutation causing arCRD in a consanguineous Egyptian family. The percentage of arCRD cases caused by mutation in ADAM9 remains to be determined. Few families are reported in the literature to date; hence extensive clinical descriptions of families with ADAM9 mutations are of significant importance.

Oxygen consumption in offspring tawny owls Strix aluco is associated with colour morph of foster mother

In several colour polymorphic species, morphs differ in thermoregulation either because dark and pale surfaces absorb solar radiation to a different extent and/or because morphs differ in key metabolic processes. Morph-specific thermoregulation may potentially account for the observation that differently coloured individuals are frequently not randomly distributed among habitats, and differ in many respects, including behaviour, morphology, survival and reproductive success. In a wild population of the colour polymorphic tawny owl Strix aluco, a recent cross-fostering experiment showed that offspring raised and born from red mothers were heavier than those from grey mothers. In the present study, we tested in the same individuals whether these morph-specific offspring growth patterns were associated with a difference in metabolic rate between offspring of red and grey mothers. For this purpose, we measured nestling oxygen consumption under two different temperatures (laboratory measurements: 4 and 20 degrees C), and examined the relationships between these data sets and the colour morph of foster and biological mothers. After controlling for nestling body mass, oxygen consumption at 20 degrees C was greater in foster offspring raised by grey foster mothers. No relationship was found between nestling oxygen consumption and coloration of their biological mother. Therefore, our study indicates that in our experiment offspring raised by grey foster mothers showed not only a lower body mass than offspring raised by red foster mothers, but also consumed more oxygen under warm temperature. This further indicates that rearing conditions in nests of grey mothers were more stressful than in nests of red mothers.

Family-based affirmative action? Subversion and resilience strategies of gay father families

The present doctoral dissertation is aimed at analyzing how and with what consequences gay father families and their children’s schools negotiate possible differences in the construction of family and gender at home and in the families’ social milieus. This objective fits in with the broader goal of researching how family-school interactons are influenced by the social context such as hegemonic masculinity (Connell, 2002). The thesis is based on qualitative fieldwork carried out with 18 nonheterosexual parent families in Spain, comprising 30 interviews with 44 people. The principal participant group were 14 de novo (adoptive and surrogacy) gay father families with resident preadolescent children. The findings revealed that all the de novo families assumed open communication strategies at school with inclusive consequences: apart from incidental questions and reactions of surprise, the children did not suffer homophobic bullying. The analisis showed that the necessary condition for inclusion was not the open communication but rather illocutionary orientation (Habermas, 1984; Soler & Flecha, 2010), understood as the parents’ sensitivity to the attitudes of their children and schools. The schools received the families in an inclusive manner, which, however, was only receptive and not proactive, therefore some of the families (reconstituted ones), coerced by the social context, got excluded. Gender relations at home were predominantly androgynous, and outside home predominantly traditional, yet the children negotiated this difference with inclusive consequences. They participated in hegemonic collective practices, thus confirming the thesis on the similarity between homo- and heterosexual-parent families (Golombok, 2006). Consistently, also the families’ identity politics was “assimilationist” and non-queer. Admittedly, the analisis showed that such a politics was increased by social expectations. Still, the findings suggest that educational and other family policies should draw on broad agendas of gender and family diversity rather than on the politics of difference and the unique status of LGB families.

Quality Of Attachment, Perinatal Risk, And Mother-Infant Interaction In A High-Risk Premature Sample

Thirty-three families, each with a premature infant born less than 33 gestational weeks, were observed in a longitudinal exploratory study. Infants were recruited in a neonatal intensive care unit, and follow-up visits took place at 4 months and 12 months of corrected age. The severity of the perinatal problems was evaluated using the Perinatal Risk Inventory (PERI; A.P. Scheiner & M.E. Sexton, 1991). At 4 months, mother infant play interaction was observed and coded according to the CARE-index (P.M. Crittenden, 2003); at 12 months, the Strange Situation Procedure (SSP; M.D.S. Ainsworth, M.C. Blehar, E. Waters. & S. Wall, 1978) was administered. Results indicate a strong correlation between the severity of perinatal problems and the quality of attachment at 12 months. Based on the PERI, infants with high medical risks more frequently tended to be insecurely attached. There also was a significant correlation between insecure attachment and dyadic play interaction at 4 months (i.e., maternal controlling behavior and infant compulsive compliance). Moreover, specific dyadic interactive patterns could be identified as protective or as risk factors regarding the quality of attachment. Considering that attachment may have long-term influence on child development, these results underline the need for particular attention to risk factors regarding attachment among premature infants.

Die Säuglingssterblichkeit in der Schweiz: multivariate Betrachtung. [Perinatal mortality in Switzerland: a multivariate analysis]

A regression analysis using a linked file of all Swiss births und perinatal deaths 1979-1981 showed a significant relation between birthweight and canton. Sex of infant and multiplicity of birth were significant, too. For live births, marital and socio-economic status of mother and father relate to birthweight. Logistic regressions brought out relationships between the risk of stillbirth and occupation of father, nationality and marital status of mother, apart from birthweight. For live births, only sex and (weakly) marital status and rank of the child were influencial after correction for birthweight.

Loss to follow-up of HIV-infected women after delivery : The Swiss HIV Cohort Study and the Swiss Mother and Child HIV Cohort Study

INTRODUCTION: HIV-infected pregnant women are very likely to engage in HIV medical care to prevent transmission of HIV to their newborn. After delivery, however, childcare and competing commitments might lead to disengagement from HIV care. The aim of this study was to quantify loss to follow-up (LTFU) from HIV care after delivery and to identify risk factors for LTFU. METHODS: We used data on 719 pregnancies within the Swiss HIV Cohort Study from 1996 to 2012 and with information on follow-up visits available. Two LTFU events were defined: no clinical visit for >180 days and no visit for >360 days in the year after delivery. Logistic regression analysis was used to identify risk factors for a LTFU event after delivery. RESULTS: Median maternal age at delivery was 32 years (IQR 28-36), 357 (49%) women were black, 280 (39%) white, 56 (8%) Asian and 4% other ethnicities. One hundred and seven (15%) women reported any history of IDU. The majority (524, 73%) of women received their HIV diagnosis before pregnancy, most of those (413, 79%) had lived with diagnosed HIV longer than three years and two-thirds (342, 65%) were already on antiretroviral therapy (ART) at time of conception. Of the 181 women diagnosed during pregnancy by a screening test, 80 (44%) were diagnosed in the first trimester, 67 (37%) in the second and 34 (19%) in the third trimester. Of 357 (69%) women who had been seen in HIV medical care during three months before conception, 93% achieved an undetectable HIV viral load (VL) at delivery. Of 62 (12%) women with the last medical visit more than six months before conception, only 72% achieved an undetectable VL (p=0.001). Overall, 247 (34%) women were LTFU over 180 days in the year after delivery and 86 (12%) women were LTFU over 360 days with 43 (50%) of those women returning. Being LTFU for 180 days was significantly associated with history of intravenous drug use (aOR 1.73, 95% CI 1.09-2.77, p=0.021) and not achieving an undetectable VL at delivery (aOR 1.79, 95% CI 1.03-3.11, p=0.040) after adjusting for maternal age, ethnicity, time of HIV diagnosis and being on ART at conception. CONCLUSIONS: Women with a history of IDU and women with a detectable VL at delivery were more likely to be LTFU after delivery. This is of concern regarding their own health, as well as risk for sexual partners and subsequent pregnancies. Further strategies should be developed to enhance retention in medical care beyond pregnancy.

Exploring triangulation in infancy : Two contrasted cases.

Two contrasted father-mother-infant interactions are observed longitudinally during trilogue play. They illustrate the contribution of recent research to the exploration of triangulation in infancy: namely, the infant's capacity to handle triangular interactions and share her affects with her two parents, and the way that this capacity is recruited in functional versus problematic alliances. It is likely that an infant under stress when interacting with one parent will protest at that parent and also at the other. Such is the case when, for example, the father acts intrusively while playing with his baby. The infant is then driven to avert and turns to the mother. The regulation of this dyadic intrusion-avoidance pattern at family level depends on the family alliance. When coparenting is supportive, the mother validates the infant's bid for help without interfering with the father. Thus, the problematic pattern is contained in the dyad, and the infant's triangular capacities remain in the service of her own developmental goals. But when coparenting is hostile-competitive, the mother ignores the infant's bid or engages with her in a way that interferes with her play with her father. In this case, the infant's triangular capacities are used to relieve the tension between the parents. The importance of tracing family process back to infancy for family therapy is discussed.

Parental occupational exposure to organic solvents and anencephaly in Mexico

Objective: To assess the relationship between parental occupational exposure to organic solvents, and the risk of anencephaly in Mexico. Methods: A case-control study was conducted based on the registers of the Epidemiological Surveillance System for Neural Tube Defects in Mexico; 151 cases of anencephaly of ≥20 weeks’ gestation were included. A control, born alive and without any apparent congenital malformations at birth, was selected for each case in the same maternity service in which the case was born. Information on occupational exposures, lifestyle habits, reproductive history, use of medicines, supplementation with multivitamins and folic acid, was obtained by a general questionnaire; a food frequency questionnaire was also applied to obtain information of daily intake of folate and other B vitamins. Occupational exposure to organic solvents was based on job title as a proxy for exposure and analysed considering two critical periods around conception. Results: In logistic regression analysis, the odds of having a child with anencephaly was higher if the mother or the father was occupationally exposed to organic solvents during the periconceptional period, or when both parents or at least one of them were occupationally exposed during this period with an adjusted odds ratio of 2.97 (95% CI 1.36 to 6.52). Conclusions: The results support the hypothesis that both maternal and paternal occupational exposure to organic solvents can increase the probability of having a child with anencephaly.

Prevalence of acute toxoplasmosis infection among 41,112 pregnant women and the mother-to-child transmission rate in a public hospital in South Brazil

Untreated acute toxoplasmosis among pregnant women can lead to serious sequelae among newborns, including neurological impairment and blindness. In Brazil, the risk of congenital toxoplasmosis (CTox) has not been fully evaluated. Our aim was to evaluate trends in acute toxoplasmosis prevalence from 1998-2005, the incidence of CTox and the rate of mother-to-child transmission (MTCT). A cross-sectional study was undertaken to dentify patients who fit the criteria for acute toxoplasmosis during pregnancy. Exposed newborns were included in a historical cohort, with a median follow-up time of 11 months, to establish definite diagnosis of CTox. Diagnoses for acute infection in pregnancy and CTox were based on European Research Network on Congenital Toxoplasmosis criteria. In 41,112 pregnant women, the prevalence of acute toxoplasmosis was 4.8/1,000 women. The birth prevalence of CTox was 0.6/1,000 newborns [95% confidence interval (CI): 0.4-0.9]. During the follow-up study, 12 additional cases were detected, increasing the CTox rate to 0.9/1,000 newborns (95% CI: 0.6-1.3). Among the 200 newborns exposed to Toxoplasma gondii,there were 37 babies presenting diagnostic criteria of CTox, leading to an MTCT rate of 18.5% (95% CI: 13.4-24.6%). The additional cases identified during follow-up reinforce the need for serological monitoring during the first year of life, even in the absence of evidence of congenital infection at birth.

Promoting secure attachment: evaluation of the effectiveness of an early intervention pilot programme with mother-infant dyads in Santiago, Chile.

BackgroundResearch indicates that the early attachment patterns of babies could influence their socio-emotional development and prevent the emergence of problematic behaviours in the child later in life. Many studies in the field of early attachment interventions have promoted a secure attachment bond between mother and infant. The purpose of this study was to evaluate the effectiveness of an early pilot intervention programme designed to promote a secure attachment bond in mother-infant dyads belonging to a population seeking regular treatment at urban health centres in Santiago, Chile.MethodsPrimipara mothers were randomly assigned to two intervention conditions: a secure attachment promotion programme (experimental group = 43) or an educational talk (control group = 29). The Strange Situation Assessment was used to collect data on the attachment patterns of babies.ResultsThe results show that after the intervention, there were more babies with secure attachment in the experimental group than in the control group.ConclusionsThese findings represent a preliminary step towards evaluating interventions aimed at promoting secure attachment in Chilean mother-child dyads. While the effect of the intervention is not significant, the effect size obtained is respectable and consistent with other meta-analytic findings.

Efectos del modelado por parte de familia y amigos en la conducta de fumar de jóvenes universitarios

El objetivo del presente trabajo es estudiar la relación entre el consumo de tabaco de familiares, pareja y amigos, y la conducta de fumar en una muestra de estudiantes universitarios (n = 122; 38,9% hombres y 61,1% mujeres). Los resultados obtenidos muestran que, en comparación con los no fumadores, los sujetos fumadores suelen tener padre y/o madre y/o amigos también fumadores mientras que no se aprecian diferencias en el caso de pareja y hermanos. Atendiendo al sexo de los sujetos, en los varones únicamente seobservan diferencias entre el estatus de consumo del sujeto y el de la madre, mientras que en las jóvenes esta diferencia se aprecia en ambos progenitores. Se constata la influencia del entorno social de manera que los fumadores suelentener a su alrededor un mayor número de familiares y amigos que también fuman

¿Quién acompaña a los pacientes a la consulta pediátrica? El acompañante de los pacientes pediátricos en Atención Primaria

Introduction: today, cultural changes may have changed the usual pattern of the mother as the accompanying person in the pediatric office. Objetives: descriptive analysis of the current situation in the pediatrics office. Material and methods: Las Delicias Health Center (health district of Malaga). Selected sample of 250 patients between the periods 1-15 July and 15-30 September, 2011. Results: in most cases (54.8%), the mother stands as the main accompanying person, appearing both parents in the consultation in 16.4% of cases. The figure of the grandparents is of special significance when the mother is an active worker. Most consultations were on-demand by appointment (82.4%), for acute symptoms, with symptoms lasting less than 3 days in most cases (59.2%). Discussion: the mother is presented as the main accompanying person in most cases. The father or grandparents will be present in front of social-cultural factors, mainly active employment status of the mother.

Evaluación y Promoción de Competencias Parentales en el Sistema Sanitario Público Andaluz. Proceso Asistencial Integrado Embarazo, Parto y Puerperio.

Con la colaboración del Departamento de Psicología Evolutiva y de la Educación de la Universidad de Sevilla