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For full functionality of ResearchGate it is necessary to enable JavaScript. Here are the instructions how to enable JavaScript in your web browser. Amenedo's research while affiliated with Autonomous University of Barcelona and other places.

Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: Possible relevance of the SMN2 copy number. To study fetal nuchal translucency NT thickness as a possible early marker in fetuses at risk for severe spinal muscular atrophy SMA. To investigate the significance of the survival motor neuron SMN 2 gene copy number in affected fetuses. Crown-rump length CRL and NT measurements were obtained in all cases before chorionic villus sampling.

Fetuses were diagnosed as healthy, carriers or affected according to the SMN1 molecular testing results. SMN2 copies were also tested in all affected fetuses. In the remaining affected case who had only one SMN2 copy, the ultrasound examination showed a NT value of 4.

Our findings support the idea that SMN2 copy number in SMA fetuses is relevant for the development of congenital heart defects and increased NT values. Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy. Feb Neuromuscular Disorders. We studied spinal muscular atrophy SMA during human development to identify possible delays or alterations in fetal movements detectable by ultrasound.

We evaluated 29 pregnancies at risk for severe SMA performing 2D-ultrasound around weeks, prior to prenatal molecular testing of the SMN1 gene. We charted the occurrence of generalized body movements, isolated movements of arms and legs, head movements, startle and hiccup.

The movements under study were observed in all recordings, regardless of group and the SMN2 copies. At the gestational age examined, we did not observe a qualitative early limitation of movements in fetuses with SMA, even in cases predicted to develop a severe neonatal form. Oct Neuromuscular Disorders. Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy. Nov European Journal of HumanGenetics. Spinal muscular atrophy SMA is an autosomal recessive disorder characterised by degeneration and loss of the motor neurons of the anterior horn of the spinal cord.

We compared the segregation ratio of the mutated allele and the wild-type allele of all the confirmed carrier parents assuming Mendelian proportions. Results of transmissions in prenatal tests and in unaffected siblings showed a statistically significant deviation in favour of the wild-type SMN1 allele. The number of affected foetuses and carriers were lower than that expected. No significant differences in the sex ratio or in the progenitor origin of the transmitted allele to the carriers were found.

One hypothesis that has been advanced to account for the distortion observed in affected foetuses is the negative postzygote selection due to early miscarriage.

However, given that the number of carriers in our series was lower than expected, prezygote events such as meiotic drive, survival of gametes or preferential fertilisation should also be considered. A new successful therapy for fetal chylothorax by intrapleural injection of maternal blood. Oct Ultrasound in Obstetrics and Gynecology. We present two cases of fetal chylothorax and hydrops diagnosed at 20 weeks' gestation, both of which underwent successful intrauterine treatment.

Because of pleural fluid reaccumulation, a Cesarean section was performed at 36 weeks. The g female neonate was admitted to neonatal intensive care but was discharged 50 days later in a healthy condition. In Case 2, resolution occurred after a third thoracocentesis and a second pleural injection of maternal blood, performed at 26 weeks. A g female neonate was delivered vaginally at 38 weeks.

The infant remained asymptomatic and was discharged aged 4 days. Our experience suggests a possible useful role of intrapleural blood injection for the treatment of fetal chylothorax. The spatial arrangement of these components is known to be crucial to optimize the safety of signal transduction at the NMJ [37, [56] [57][58].

The cranio-sacral progression of muscle development influences the emergence of neuromuscular junction alterations in a severe murine model for Spinal Muscular Atrophy. Cardiac pathology in spinal muscular atrophy: Another way of bringing about pleurodesis is by intrapleural injection of maternal blood, with the aim of creating a thrombotic patch. A MEDLINE search of all relevant English language publications between and , plus manual crosschecking of the reference lists of the pertinent articles, allowed the collection of 59 articles for a total of cases dealing with antenatal treatment of apparently primary pleural effusion in which gestational age at diagnosis was reported, the presence or absence of hydrops was described, and perinatal outcome was known.

Ultrasound in Obstetrics and Gynecology 1. European Journal of HumanGenetics 1. Autonomous University of Barcelona. Hospital de la Santa Creu i Sant Pau.

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Share this company profile. Impact of medical counselling on giving up smoking during pregnancy. Women s tobacco consumption has increased in Spain in recent years, especially among women of reproductive age.

This study aims to evaluate the impact of medical counselling integrated into pre-natal care on tobacco consumption during pregnancy and the period after delivery. Hospital del Mar, Barcelona. The control group patients had received normal care. The pregnant women in the intervention group received systematic structured counselling on giving up smoking, backed up by a special brochure composed for this purpose.

The intervention and control groups showed no statistically significant differences either in their social or demographic variables or in their tobacco consumption.

In both groups the evolution of their smoking during pregnancy was determined during their pre-natal visits and six months after delivery through a telephone interview. In the intervention group 26 Of those who gave up completely during pregnancy, Counselling at pre-natal check-ups to give up smoking lightly increases the number of women who give up and reduces significantly the number of post-delivery backsliders.

Differences between girls and boys? To estimate RNA viral load patterns over age in vertically infected children that account for between- and within-individual variation, treatment and assay cut-off detection level. To investigate possible sex-based differences. A total of infected children with RNA viral load measurements enrolled in the European Collaborative Study were prospectively followed from birth for up to 15 years. Fractional polynomial and mixed effects models with censored data to assess the non-linear pattern of viral load over age, allowing for repeated measures.

The RNA viral load peaked at approximately 3 months of age, and gradually declined thereafter. Sex differences in RNA viral load relating to measurement without treatment were more pronounced than those under treatment.

Disease progression was more rapid for girls than for boys up to the age of 4 years, and less rapid thereafter; the overall difference was not statistically significant. Differences in RNA viral load over age between untreated boys and girls may have implications for policies for the initiation of antiretroviral therapy, but do not seem to translate into differences in progression to serious disease, The findings would suggest underlying biological explanations, which need further investigation.

Human immunodeficiency virus infection in pregnant women, transmission and zidovudine therapy. A consecutive series of 52 HIV-positive pregnant women who either received antenatal care or delivered at our institution.

Forty-three women were known to be HIV positive before delivery. Forty were treated with ZDV, 36 intravenously. Twelve had no antenatal care and one refused antenatal treatment. All neonates were treated with ZDV.

All three mothers who transmitted infection had low compliance, initiated therapy late in pregnancy or had advanced disease. Duration of ruptured membranes and vertical transmission of HIV Feb 7th Conference on Retroviruses and Opportunistic Infections. To test the a priori hypothesis that longer duration of ruptured membranes is associated with increased risk of vertical transmission of HIV. The relationship between duration of ruptured membranes and vertical transmission of HIV was evaluated in an individual patient data meta-analysis.

Eligible studies were prospective cohort studies including at least mother-child pairs, from regions where HIV-infected women are counselled not to breastfeed. Analyses were restricted to vaginal deliveries and non-elective Cesarean sections; elective Cesarean section deliveries those performed before onset of labour and before rupture of membranes were excluded.

The primary analysis included deliveries with duration of ruptured membranes less than or equal to 24 h. There were no significant interactions of duration of ruptured membranes with study cohort or with any of the covariates, except maternal AIDS.

These results support the importance of duration of ruptured membranes as a risk factor for vertical transmission of HIV and suggest that a diagnosis of AIDS in the mother at the time of delivery may potentiate the effect of duration of ruptured membranes.

Combination antiretroviral therapy and duration of pregnancy. To assess the association between type and timing of initiation of antiretroviral therapy in pregnancy and duration of pregnancy. Factors examined included gestational age, antiretroviral therapy during pregnancy, maternal CD4 count, viral load, illicit drug use IDU and mode of delivery.

Deliveries at less than 37 weeks were defined as premature. Twenty-three per cent of of women received antiretroviral therapy during pregnancy: Exposure to monotherapy was not associated with prematurity, but severe immunosuppression and IDU in pregnancy were.

Women on combination therapy from before pregnancy were twice as likely to deliver prematurely as those starting therapy in the third trimester OR, 2. Pregnancy issues should be discussed when making decisions about initiation of combination antiretroviral therapy for HIV-infected women.

Elective caesarean section to reduce vertical transmission at 36 weeks rather than 38 weeks may be advisable in women on combination therapy with PI.

Validity of the declared tobacco consumption in pregnancy. To analyse the relationship between the stated consumption of tobacco by pregnant women who say they smoked before pregnancy and the levels of cotinine in their urine at the start and end of pregnancy.

The numbers of cigarettes per day that they said they smoked on their first monitoring visit to our centre and at the last attendance before giving birth were recorded. Mean cotinine in pregnant women who said they had given up smoking was higher than in non-smokers.

There was a certain under-declaration by pregnant smokers, although their statements of consumption and cotinine levels correlated closely. Intraepithelial cervical pathology in gestant patients infected by the human immunodeficiency virus HIV. The mode of delivery and the risk of vertical transmission of human immunodeficiency virus type 1 - A meta-analysis of 15 prospective cohort studies.

Background To evaluate the relation between elective cesarean section and vertical transmission of human immunodeficiency virus type 1 HIV-1 , we performed a meta-analysis using data on individual patients from 15 prospective cohort studies. Methods North American and European studies of at least mother-child pairs were included in the meta-analysis. Uniform definitions of modes of delivery were used. Elective cesarean sections were defined as those performed before onset of labor and rupture of membranes.

Multivariate logistic-regression analysis was used to adjust for other factors known to be associated with vertical transmission. Results The primary analysis included data on mother-child pairs. After adjustment for receipt of antiretroviral therapy, maternal stage of disease, and infant birth weight, the likelihood of vertical transmission of HIV-1 was decreased by approximately 50 percent with elective cesarean section, as compared with other modes of delivery adjusted odds ratio, 0.

The results were similar when the study population was limited to those with rupture of membranes shortly before delivery. The likelihood of transmission was reduced by approximately 87 percent with both elective cesarean section and receipt of antiretroviral therapy during the prenatal, intrapartum, and neonatal periods, as compared with other modes of delivery and the absence of therapy adjusted odds ratio, 0.

Conclusions The results of this meta-analysis suggest that elective cesarean section reduces the risk of transmission of HIV-1 from mother to child independently of the effects of treatment with zidovudine. N Engl J Med ; C , Massachusetts Medical Society. Elective caesarean-section versus vaginal delivery in prevention of vertical HIV-1 transmission: Background Results from observational studies suggest that caesarean-section delivery may reduce the risk of mother-to-child transmission of HIV-1 infection in comparison with vaginal delivery.

We carried out a randomised clinical trial to address this issue and to assess the extent of postdelivery complications. Methods Eligible women were between 34 and 36 weeks of pregnancy, with a confirmed diagnosis of HIV-1 infection, and without an indication for caesarean-section delivery or a contraindication to this mode of delivery.

Women were randomly assigned elective caesarean-section delivery at 38 weeks of pregnancy or vaginal delivery. An infant was classified as uninfected if he or she became negative for antibody to HIV-1 by age 18 months or was negative for virus by PCR or culture on at least two occasions, with no clinical, immunological, or viral evidence of infection.

From , to March, , women were randomised. Findings We present the results of an analysis updated to November, , with data on the infection status of infants.

There were few postpartum complications and no serious adverse events in either group. Interpretation Our findings provide evidence that elective caesarean-section delivery significantly lowers the risk of mother-to-child transmission of HIV-1 infection without a significantly increased risk of complications for the mother. Results from observational studies suggest that caesarean-section delivery may reduce the risk of mother-to-child transmission of HIV-1 infection in comparison with vaginal delivery.

Eligible women were between 34 and 36 weeks of pregnancy, with a confirmed diagnosis of HIV-1 infection, and without an indication for caesarean-section delivery or a contraindication to this mode of delivery. We present the results of an analysis updated to November, , with data on the infection status of infants.

Our findings provide evidence that elective caesarean-section delivery significantly lowers the risk of mother-to-child transmission of HIV-1 infection without a significantly increased risk of complications for the mother. Is zidovudine therapy in pregnant HIV-infected women associated with gestational age and birthweight?

Prophylactic zidovudine during pregnancy and labour reduces maternal viral load and, with neonatal therapy, has been shown to reduce vertical transmission. However, zidovudine may have additional effects. Advanced HIV disease is associated with premature delivery, which in turn results in increased vertical transmission. HIV-infected pregnant women enrolled in the ECS were followed prospectively according to a standard protocol.

Gestational age was assessed by ultrasound, prematurity was defined as delivery before 37 weeks and the cut-off for low birthweight was g. We calculated odds ratios OR to estimate the effect of zidovudine on the risk of premature or low birthweight delivery.

Allowing for CD4 count and mode of delivery did not greatly alter these OR values. Twenty-four universities in Spain simultaneously participate in a video competition coordinated by the UAB under the European U-Mob project to award the creations which best represent the values of sustainable mobility at university. Issues will be discussed related to the decision-making process of autonomous vehicles and how to establish them.

From 25 to 27 October a conference will be held on intenrational far-right parties. A recently published study by the UAB Centre for Demographic Studies calculates for the first time the years in which young adults aged 30 to 39 in Spain have lived in precarious conditions, comparing the results with 22 other generations. The research concludes that the number of years young adults in Spain have lived with precarious job conditions has not stopped growing in the past 30 years.

She was proposed for the award by the Faculty of Translation and Interpreting.

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