37 research outputs found

    Prevalence of Fetal Alcohol Spectrum Disorders (FASD) among Children Adopted from Eastern European Countries: Russia and Ukraine

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    Fetal alcohol spectrum disorders; Adopted children; Cognitive disorderTrastornos del espectro alcohólico fetal; Niño adoptado; Trastorno cognitivoTrastorns de l'espectre alcohòlic fetal; Nens adoptats; Trastorn cognitiuFetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disorders. Children adopted internationally from countries where alcohol consumption during pregnancy is very high are at greater risk for FASD. Lack of expertise in diagnosing FASD and mixed neurodevelopmental and behavioral signs due to abandonment complicate a timely diagnosis. The aim of this study was to determine the prevalence of FASD in adopted children. Children between the ages of 8 and 24 adopted from Russia and Ukraine were evaluated for clinical and historical features of FASD. Of the 162 children evaluated, 81 (50%) met FASD diagnostic criteria. Thirty-three (20.4%) children had fetal alcohol syndrome (FAS), 28 (17.2%) had partial FAS, 2 (1.2%) had alcohol-related birth defects (ARBD) and 18 (11.1%) had alcohol-related neurodevelopmental disorder (ARND). Of the 81 children in which fetal alcohol exposure could not be confirmed, many had manifestations that would have established a diagnosis of FASD if a history of maternal alcohol consumption was confirmed. In a population of children with a high risk of prenatal alcohol exposure (adoptees from Eastern European countries), at least 50% showed manifestations associated with FASD. The reported prevalence in this study is in line with the results obtained in a previous study as well as in orphanages of origin

    Millora de material docent en l'àmbit de l'electrònica de potència a l'EUETIT i l'EPSEM adaptat als crèdits ECTS.

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    El projecte “Millora de material docent en l'àmbit de l'electrònica de potència a l'EUETIT i l'EPSEM adaptat als crèdits ECTS” te com a finalitat la millora de la formació i rendiment acadèmic dels estudiants tenint present el proper horitzó de l’any 2010 en que s’iniciarà el desplegament dels nous plans d'estudi fonamentats en l'EEES i la adopció del sistema ECTS. Els objectius que es volen assolir son:1. Aprofundir en la coordinació de continguts i mètodes entre les assignatures de la mateixa titulació involucrades en el projecte. 2. Elaborar un material multimèdia específic per l’aprenentatge d’electrònica de potència. Tota la documentació multimèdia generada i actualitzada estarà dipositada en el Campus digital de les assignatures (Atenea) en l'entorn Moodle. 3. Dissenyar, muntar, provar i fabricar material de laboratori que permetin millorar els mètodes i continguts docents. 4.Avançar mitjançant les noves metodologies docents cap a la convergència de l’EEES i la implantació dels ECTS. 5. Estrènyer la col·laboració entre els equips docents dels dos campus que la UPC té a Terrassa i Manresa. 6. Col·laborar amb la Factoria de Recursos Docents amb l'ús d'estàndards de materials docents de la UPC. Allotjar el material al Dipòsit de Materials Docentes de la UPC.Peer Reviewe

    Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

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    The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

    7th Drug hypersensitivity meeting: part two

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    Mcl-1 and Bok transmembrane domains : Unexpected players in the modulation of apoptosis

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    The Bcl-2 protein family comprises both proand antiapoptotic members that control the permeabilization of the mitochondrial outer membrane, a crucial step in the modulation of apoptosis. Recent research has demonstrated that the carboxyl-terminal transmembrane domain (TMD) of some Bcl-2 protein family mem-bers can modulate apoptosis; however, the transmembrane interactome of the antiapoptotic protein Mcl-1 remains largely unexplored. Here, we demonstrate that the Mcl-1 TMD forms homooligomers in the mitochondrial membrane, competes with full-length Mcl-1 protein with regards to its antiapoptotic function, and induces cell death in a Bok-dependent manner. While the Bok TMD oligomers locate preferentially to the endoplasmic reticulum (ER), heterooligomerization between the TMDs of Mcl-1 and Bok predominantly takes place at the mitochondrial membrane. Strikingly, the coexpression of Mcl-1 and Bok TMDs produces an increase in ER mitochondrial-associated membranes, suggesting an active role of Mcl-1 in the induced mitochondrial targeting of Bok. Finally, the introduction of Mcl-1 TMD somatic mutations detected in cancer patients alters the TMD interaction pattern to provide the Mcl-1 protein with enhanced antiapoptotic activity, thereby highlighting the clinical relevance of Mcl-1 TMD interactions.Peer reviewe

    Improving liquid chromatography-tandem mass spectrometry determination of polycarboxylic acids in human urine by chemical derivatization. Comparison of o-benzyl hydroxylamine and 2-picolyl amine

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    Due to its high sensitivity and specificity, liquid chromatography-electrospray tandem mass spectrometry (LC-MS/MS) could be considered as the gold-standard in targeted metabolomics. Although LC-MS/MS allows for the direct detection of a large number of molecules, the proper quantification of highly polar compounds such as poly-carboxylic acids in complex matrices like urine is still a challenge. Chemical derivatization offers a suitable way to improve chromatographic behavior and sensitivity for these compounds. Several derivatizing agents have been proposed for the LC-MS/MS determination of carboxylic acids but studies dealing with their comparison in challenging scenarios are scarce. Here we present the evaluation of two different derivatization agents; o-benzylhydroxyl amine (oBHA) and 2-picolyl amine (2-PA); for the quantification of the (poly)-carboxylic acids belonging to the tricarboxylic acid cycle in urine. The suitability of both derivatizating agents was compared by validation of the two approaches. Derivatization with oBHA showed important advantages against 2-PA derivatization such as (i) providing better sensitivity, (ii) more stable derivatives and (iii) allowing for the proper validation of a larger number of analytes. Moreover, while 2-PA derivatization failed in the determination of the target analytes in some stored urine samples, oBHA derivatization successfully allowed for their appropriate determination in the same samples. A comparison between the concentrations obtained using oBHA derivatization and those provided by an external laboratory using UV and GC-MS detection revealed a satisfactory agreement between both results. Additionally, the concentrations obtained by the oBHA method for a set of 38 urines are in agreement with those previously reported in the literature. As a conclusion, our results show that the use of oBHA is preferred against 2-PA for the detection and quantification of (poly)-carboxylic acids in urine

    Improving liquid chromatography-tandem mass spectrometry determination of polycarboxylic acids in human urine by chemical derivatization. Comparison of o-benzyl hydroxylamine and 2-picolyl amine

    No full text
    Due to its high sensitivity and specificity, liquid chromatography-electrospray tandem mass spectrometry (LC-MS/MS) could be considered as the gold-standard in targeted metabolomics. Although LC-MS/MS allows for the direct detection of a large number of molecules, the proper quantification of highly polar compounds such as poly-carboxylic acids in complex matrices like urine is still a challenge. Chemical derivatization offers a suitable way to improve chromatographic behavior and sensitivity for these compounds. Several derivatizing agents have been proposed for the LC-MS/MS determination of carboxylic acids but studies dealing with their comparison in challenging scenarios are scarce. Here we present the evaluation of two different derivatization agents; o-benzylhydroxyl amine (oBHA) and 2-picolyl amine (2-PA); for the quantification of the (poly)-carboxylic acids belonging to the tricarboxylic acid cycle in urine. The suitability of both derivatizating agents was compared by validation of the two approaches. Derivatization with oBHA showed important advantages against 2-PA derivatization such as (i) providing better sensitivity, (ii) more stable derivatives and (iii) allowing for the proper validation of a larger number of analytes. Moreover, while 2-PA derivatization failed in the determination of the target analytes in some stored urine samples, oBHA derivatization successfully allowed for their appropriate determination in the same samples. A comparison between the concentrations obtained using oBHA derivatization and those provided by an external laboratory using UV and GC-MS detection revealed a satisfactory agreement between both results. Additionally, the concentrations obtained by the oBHA method for a set of 38 urines are in agreement with those previously reported in the literature. As a conclusion, our results show that the use of oBHA is preferred against 2-PA for the detection and quantification of (poly)-carboxylic acids in urine

    Factors Influencing Duration of Breastfeeding: Insights from a Prospective Study of Maternal Health Literacy and Obstetric Practices

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    Numerous factors concerning early breastfeeding abandonment have been described, including health literacy (HL). This study’s objective was to analyze factors related to early breastfeeding abandonment (n = 224, 81.5%) to the sixth month postpartum (n = 117, 42.5%). A Cox regression analysis revealed that inadequate HL levels, lack of mobilization during labour, and induced labour were significantly associated with early breastfeeding cessation (p = 0.022, p = 0.019, and p = 0.010, respectively). The results highlight that women with adequate HL had a 32% lower risk of early breastfeeding abandonment. In comparison, mobilization during labour and induction of labour were linked to a 32.4% reduction and a 53.8% increase in this risk, respectively. These findings emphasize the importance of considering obstetric and HL factors when addressing the breastfeeding duration, indicating opportunities for educational and perinatal care interventions

    Therapeutic effects of catechins in less common neurological and neurodegenerative disorders

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    In recent years, neurological and neurodegenerative disorders research has focused on altered molecular mechanisms in search of potential pharmacological targets, e.g., imbalances in mechanisms of response to oxidative stress, inflammation, apoptosis, autophagy, proliferation, differentiation, migration, and neuronal plasticity, which occur in less common neurological and neurodegenerative pathologies (Huntington disease, multiple sclerosis, fetal alcohol spectrum disorders, and Down syndrome). Here, we assess the effects of different catechins (particularly of epigalocatechin-3-gallate, EGCG) on these disorders, as well as their use in attenuating age-related cognitive decline in healthy individuals. Antioxidant and free radical scavenging properties of EGCG -due to their phenolic hydroxyl groups-, as well as its immunomodulatory, neuritogenic, and autophagic characteristics, makes this catechin a promising tool against neuroinflammation and microglia activation, common in these pathologies. Although EGCG promotes the inhibition of protein aggregation in experimental Huntington disease studies and improves the clinical severity in multiple sclerosis in animal models, its efficacy in humans remains controversial. EGCG may normalize DYRK1A (involved in neural plasticity) overproduction in Down syndrome, improving behavioral and neural phenotypes. In neurological pathologies caused by environmental agents, such as FASD, EGCG enhances antioxidant defense and regulates placental angiogenesis and neurodevelopmental processes. As demonstrated in animal models, catechins attenuate age-related cognitive decline, which results in improvements in long-term outcomes and working memory, reduction of hippocampal neuroinflammation, and enhancement of neuronal plasticity; however, further studies are needed. Catechins are valuable compounds for treating and preventing certain neurodegenerative and neurological diseases of genetic and environmental origin. However, the use of different doses of green tea extracts and EGCG makes it difficult to reach consistent conclusions for different populations
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