A variant in the gene FUT9 is associated with susceptibility to placental malaria infection

Malaria in pregnancy forms a substantial part of the worldwide burden of malaria, with an estimated annual death toll of up to 200,000 infants, as well as increased maternal morbidity and mortality. Studies of genetic susceptibility to malaria have so far focused on infant malaria, with only a few studies investigating the genetic basis of placental malaria, focusing only on a limited number of candidate genes. The aim of this study therefore was to identify novel host genetic factors involved in placental malaria infection. To this end we carried out a nested case-control study on 180 Mozambican pregnant women with placental malaria infection, and 180 controls within an intervention trial of malaria prevention. We genotyped 880 SNPs in a set of 64 functionally related genes involved in glycosylation and innate immunity. A SNP located in the gene FUT9, rs3811070, was significantly associated with placental malaria infection (OR = 2.31, permutation p-value = 0.028). Haplotypic analysis revealed a similarly strong association of a common haplotype of four SNPs including rs3811070. FUT9 codes for a fucosyl-transferase that is catalyzing the last step in the biosynthesis of the Lewis-x antigen, which forms part of the Lewis blood group-related antigens. These results therefore suggest an involvement of this antigen in the pathogenesis of placental malaria infection.

Effect of maternal clinical chorioamnionitis on neonatal morbidity in very-low birthweight infants: a case control study

Aims: To assess the relationship between maternal clinical chorioamnionitis and neonatal outcome in preterm very-low birthweight (VLBW) infants. Methods: An observational case-control study was conducted in the Neonatology Services of 12 acute-care teaching hospitals in Spain. Between January 2004 and December 2006, all consecutive VLBW (F1500 g) infants born to a mother with clinical chorioamnionitis were enrolled. Controls were infants without chorioamnionitis matched by gestational age who were born immediately after each index case. Results: There were 165 cases and 163 controls. A significantly higher percentage of cases than controls required intubation (53% vs. 35.8%), had normal intrauterine growth (98.1% vs. 84.7%), were born in a tertiary center (inborn) (95.1% vs. 89.1%), from single gestations (76.4% vs. 65.6%) and vaginal delivery (47.3% vs. 33.3%), showed a lowerApgar score at 5 min, and presented a higher rate of earlyonset sepsis (10.4% vs. 1.2%). Older maternal age (32.5 vs. 30.8 years), premature labor (67.3% vs. 25.8%), premature rupture of membranes (61.3% vs. 25.8%), and antibiotic treatment (88.5% vs. 52.3%) were significantly more frequent among cases than controls. Conclusions: After controlling by gestational age, maternal chorioamnionitis was associated with neonatal depression and early sepsis but not with other prematurity-related complications.

Effect of maternal clinical chorioamnionitis on neonatal morbidity in very-low birthweight infants: a case control study

Aims: To assess the relationship between maternal clinical chorioamnionitis and neonatal outcome in preterm very-low birthweight (VLBW) infants. Methods: An observational case-control study was conducted in the Neonatology Services of 12 acute-care teaching hospitals in Spain. Between January 2004 and December 2006, all consecutive VLBW (F1500 g) infants born to a mother with clinical chorioamnionitis were enrolled. Controls were infants without chorioamnionitis matched by gestational age who were born immediately after each index case. Results: There were 165 cases and 163 controls. A significantly higher percentage of cases than controls required intubation (53% vs. 35.8%), had normal intrauterine growth (98.1% vs. 84.7%), were born in a tertiary center (inborn) (95.1% vs. 89.1%), from single gestations (76.4% vs. 65.6%) and vaginal delivery (47.3% vs. 33.3%), showed a lowerApgar score at 5 min, and presented a higher rate of earlyonset sepsis (10.4% vs. 1.2%). Older maternal age (32.5 vs. 30.8 years), premature labor (67.3% vs. 25.8%), premature rupture of membranes (61.3% vs. 25.8%), and antibiotic treatment (88.5% vs. 52.3%) were significantly more frequent among cases than controls. Conclusions: After controlling by gestational age, maternal chorioamnionitis was associated with neonatal depression and early sepsis but not with other prematurity-related complications.

Effect of maternal clinical chorioamnionitis on neonatal morbidity in very-low birthweight infants: a case control study

Aims: To assess the relationship between maternal clinical chorioamnionitis and neonatal outcome in preterm very-low birthweight (VLBW) infants. Methods: An observational case-control study was conducted in the Neonatology Services of 12 acute-care teaching hospitals in Spain. Between January 2004 and December 2006, all consecutive VLBW (F1500 g) infants born to a mother with clinical chorioamnionitis were enrolled. Controls were infants without chorioamnionitis matched by gestational age who were born immediately after each index case. Results: There were 165 cases and 163 controls. A significantly higher percentage of cases than controls required intubation (53% vs. 35.8%), had normal intrauterine growth (98.1% vs. 84.7%), were born in a tertiary center (inborn) (95.1% vs. 89.1%), from single gestations (76.4% vs. 65.6%) and vaginal delivery (47.3% vs. 33.3%), showed a lowerApgar score at 5 min, and presented a higher rate of earlyonset sepsis (10.4% vs. 1.2%). Older maternal age (32.5 vs. 30.8 years), premature labor (67.3% vs. 25.8%), premature rupture of membranes (61.3% vs. 25.8%), and antibiotic treatment (88.5% vs. 52.3%) were significantly more frequent among cases than controls. Conclusions: After controlling by gestational age, maternal chorioamnionitis was associated with neonatal depression and early sepsis but not with other prematurity-related complications.

First trimester maternal level of PAPP-A, βhCG and ethnicity as predictive of Intrauterine Growth Restriction

Intrauterine growth restriction (IUGR) is one of the leading causes of perinatal mortality and morbidity. Nowadays, this condition is detected in the 3rt and last trimester of gestation when the pathology is already established and success of therapeutic strategies are limited. As the physiopathology of the disease suggests that the problem stems from poor placental implantation, it would be quite advantageous to identify women at increased risk in the first or second trimester of gestation because it then might be possible to offer treatment interventions or at least to establish increased surveillance for high risk pregnancies. Maternal levels of pregnancy-associated plasma protein-A (PAPP-A) and free β human chorionic gonadotropin (free βhCG) has been shown to be effective in first trimester screening for chromosomal abnormalities, primarily trisomies 21, 13 and 18. Previous studies evaluating PAPP-A and free βhCG measured in the first trimester in relation with IUGR have provided conflicting results. Moreover, it has been suggested that black ethnicity is another important predictive factor for fetal growth restriction.Objective: To analyse the association between first trimester serum analytes (PAPP-A and free βhCG) and ethnicity with Intrauterine Growth Restriction.Methods: The study consists in a retrospective cohort, including all singleton pregnancies with complete outcome data that had undergone first trimester screening (PAPP-A and free βhCG) at 11-13+6weeks of gestation between 1/1/2010 - 31/12/2012 in Hospital Universitari Dr Josep Trueta. Biochemical markers are converted to multiples of the median (MoMs) and percentiles 5 and 10 are calculated. The association between free βhCG and PAPP-A with the incidence of IUGR is evaluated in combination with maternal ethnicity. Bivariate and logistic regression analyses are performed to adjust this association for co variables

First trimester maternal level of PAPP-A, βhCG and ethnicity as predictive of Intrauterine Growth Restriction

Intrauterine growth restriction (IUGR) is one of the leading causes of perinatal mortality and morbidity. Nowadays, this condition is detected in the 3rt and last trimester of gestation when the pathology is already established and success of therapeutic strategies are limited. As the physiopathology of the disease suggests that the problem stems from poor placental implantation, it would be quite advantageous to identify women at increased risk in the first or second trimester of gestation because it then might be possible to offer treatment interventions or at least to establish increased surveillance for high risk pregnancies. Maternal levels of pregnancy-associated plasma protein-A (PAPP-A) and free β human chorionic gonadotropin (free βhCG) has been shown to be effective in first trimester screening for chromosomal abnormalities, primarily trisomies 21, 13 and 18. Previous studies evaluating PAPP-A and free βhCG measured in the first trimester in relation with IUGR have provided conflicting results. Moreover, it has been suggested that black ethnicity is another important predictive factor for fetal growth restriction.Objective: To analyse the association between first trimester serum analytes (PAPP-A and free βhCG) and ethnicity with Intrauterine Growth Restriction.Methods: The study consists in a retrospective cohort, including all singleton pregnancies with complete outcome data that had undergone first trimester screening (PAPP-A and free βhCG) at 11-13+6weeks of gestation between 1/1/2010 - 31/12/2012 in Hospital Universitari Dr Josep Trueta. Biochemical markers are converted to multiples of the median (MoMs) and percentiles 5 and 10 are calculated. The association between free βhCG and PAPP-A with the incidence of IUGR is evaluated in combination with maternal ethnicity. Bivariate and logistic regression analyses are performed to adjust this association for co variables

First trimester maternal level of PAPP-A, βhCG and ethnicity as predictive of Intrauterine Growth Restriction

Intrauterine growth restriction (IUGR) is one of the leading causes of perinatal mortality and morbidity. Nowadays, this condition is detected in the 3rt and last trimester of gestation when the pathology is already established and success of therapeutic strategies are limited. As the physiopathology of the disease suggests that the problem stems from poor placental implantation, it would be quite advantageous to identify women at increased risk in the first or second trimester of gestation because it then might be possible to offer treatment interventions or at least to establish increased surveillance for high risk pregnancies. Maternal levels of pregnancy-associated plasma protein-A (PAPP-A) and free β human chorionic gonadotropin (free βhCG) has been shown to be effective in first trimester screening for chromosomal abnormalities, primarily trisomies 21, 13 and 18. Previous studies evaluating PAPP-A and free βhCG measured in the first trimester in relation with IUGR have provided conflicting results. Moreover, it has been suggested that black ethnicity is another important predictive factor for fetal growth restriction.Objective: To analyse the association between first trimester serum analytes (PAPP-A and free βhCG) and ethnicity with Intrauterine Growth Restriction.Methods: The study consists in a retrospective cohort, including all singleton pregnancies with complete outcome data that had undergone first trimester screening (PAPP-A and free βhCG) at 11-13+6weeks of gestation between 1/1/2010 - 31/12/2012 in Hospital Universitari Dr Josep Trueta. Biochemical markers are converted to multiples of the median (MoMs) and percentiles 5 and 10 are calculated. The association between free βhCG and PAPP-A with the incidence of IUGR is evaluated in combination with maternal ethnicity. Bivariate and logistic regression analyses are performed to adjust this association for co variables

Factores pronósticos de mortalidad de la neumonía neumocócica grave en la UCI

Estudi retrospectiu realitzat en dos centres hospitalaris durant el període 1996-2009, per valorar els factors pronòstics de mortalitat a la pneumònia pneumocòccica greu. Van ser inclosos 70 pacients ingressats a unitats de cures intensives amb Streptococcus pneumoniae aïllat a cultiu de sang i amb criteris de pneumònia greu segons la American Thoracic Society. Al nostre estudi, la resistència als macròlids i una alta puntuació als índexs de gravetat APACHE II, SOFA i PSI son factors associats a un major risc de mortalitat en pacients amb pneumònia pneumocòccica greu.

Preeclampsia grave en una unidad de alto riesgo obstétrico: estudio retrospectivo en el área materno infantil del Hospital Vall de Hebron durante el año 2009

La preeclàmpsia greu és una malaltia multisistemàtica que es caracteritza per tenir presents alguns dels següents símptomes: PA ≥160 / 110, proteïnúria & 5 g/ 24 h, creatinina plasmàtica elevada, oligúria & 500 cc / 24 h, plaquetes & 100.000 /L, elevació de las transaminases, hemòlisis, dolor epigàstric o hipocondri dret, cefalea, alteracions visuals, mentals, edema agut de pulmó., Sd. Hellp, RCIU o oligoamnis; que apareixen durant l’embaràs. Els factors de risc més comuns entre les pacients estudiades a l’àrea matern infantil de l’ Hospital La Vall d´Hebron de Barcelona són la nuliparidat , l’obesitat i l’ edat &35 anys. Hi ha també uns altres factors menys freqüents com la HTA crònica i la gestació múltiple. En la majoria de les gestants es va seguir el protocol de l’ hipertensió arterial d’aquesta àrea. Totes van ser tractades amb sulfato de magnesi per a prevenir les convulsions i antihipertensiu. Sobre el 70% de les pacients va rebre també un tractament per a l’hipertensió amb labetalol e.v. i hidralacina e.v. Aquests fàrmacs són eficaços per al tractament de l’hipertensió en la preeclàmpsia severa. Es va comprovar que les pacients que van rebre el tractament amb hidralacina van presentar un major nombre de manifestacions clíniques i complicacions. L’anestèsia regional és el tipus d’anestèsia escollida. L’anestèsia intradural produeix el major descens de la TA en les pacients amb preeclàmpsia greu tractades amb anestèsia peridural Per altra banda, la cefalea és més freqüent desprès de l’anestèsia intradural que de l’epidural.

Variables asociadas a necrosis pancreática en pacientes con Pancreatitis Aguda Grave.

Hem fet un estudi retrospectiu de 73 adults amb pancreatitis aguda greu recollint variables analítiques i radiològiques a l'ingrés i a les 48h i relacionant-les amb l'existència de necrosi pancreàtica a la TC. Les variables relacionades amb la necrosi van ser: edat, leucòcits, VSG, TP, INR, glucèmia, urea, creatinina, proteïnes, albúmina, LDH, calci, PCR i presència de vessament pleural a la Rx. D'aquestes, el vessament pleural a l'ingrés i la hipoalbuminemia, les xifres altes de LDH i PCR a les 48 hores es van relacionar significativament, la qual cosa permet identificar pacients amb major risc en els quals instaurar mesures precoces

Estudio retrospectivo (2004-2012) de una cohorte de 56 pacientes con psoriasis moderada-grave tratados con infliximab en un centro de referencia.

Infliximab es un anticuerpo monoclonal efectivo en la psoriasis. Métodos: Estudio retrospectivo de 56 pacientes tratados con infliximab. Resultados: El 82% y 91,1% de los pacientes alcanzaron respuestas PASI 75 en la semana 12 y al año.La probabilidad de supervivencia global del tratamiento fue de 40% a los 4 años. Conclusiones: Infliximab ha demostrado ser efectivo y seguro a corto y largo plazo. La intensificación fue el predictor positivo más importante de aumento de supervivencia del tratamiento, seguido por el tratamiento combinado. El factor predictor negativo de supervivencia más importante parece ser el fracaso previo a otros anti-TNF.

Linguistic and maternal genetic diversity are not correlated in native mexicans

Mesoamerica, defined as the broad linguistic and cultural area from middle southern Mexico to Costa Rica, might have played a pivotal role during the colonization of theAmerican continent. It has been suggested that the Mesoamerican isthmus could have played an important role in severely restricting prehistorically gene flow between North and SouthAmerica. Although the Native American component has been already described in admixedMexican populations, few studies have been carried out in native Mexican populations. In thisstudy we present mitochondrial DNA (mtDNA) sequence data for the first hypervariable region (HVR-I) in 477 unrelated individuals belonging to eleven different native populations from Mexico. Almost all the Native Mexican mtDNAs could be classified into the four pan-Amerindian haplogroups (A2, B2, C1 and D1); only three of them could be allocated to the rare Native American lineage D4h3. Their haplogroup phylogenies are clearly star-like, as expected from relatively young populations that have experienced diverse episodes of genetic drift (e.g. extensive isolation, genetic drift and founder effects) and posterior population expansions. In agreement with this observation is the fact that Native Mexican populations show a high degree of heterogeneity in their patterns of haplogroup frequencies. HaplogroupX2a was absent in our samples, supporting previous observations where this clade was only detected in the American northernmost areas. The search for identical sequences in the American continent shows that, although Native Mexican populations seem to show a closer relationship to North American populations, they cannot be related to a single geographical region within the continent. Finally, we did not find significant population structure on the maternal lineages when considering the four main and distinct linguistic groups represented in our Mexican samples (Oto-Manguean, Uto-Aztecan, Tarascan, and Mayan), suggesting that genetic divergence predates linguistic diversification in Mexico.

Genetic origin, admixture, and asymmetry in maternal and paternal human lineages in Cuba

Background: Before the arrival of Europeans to Cuba, the island was inhabited by two Native American groups, the Tainos and the Ciboneys. Most of the present archaeological, linguistic and ancient DNA evidence indicates a South American origin for these populations. In colonial times, Cuban Native American people were replaced by European settlers and slaves from Africa. It is still unknown however, to what extent their genetic pool intermingled with and was 'diluted' by the arrival of newcomers. In order to investigate the demographic processes that gave rise to the current Cuban population, we analyzed the hypervariable region I (HVS-I) and five single nucleotide polymorphisms (SNPs) in the mitochondrial DNA (mtDNA) coding region in 245 individuals, and 40 Y-chromosome SNPs in 132 male individuals. Results: The Native American contribution to present-day Cubans accounted for 33% of the maternal lineages, whereas Africa and Eurasia contributed 45% and 22% of the lineages, respectively. This Native American substrate in Cuba cannot be traced back to a single origin within the American continent, as previously suggested by ancient DNA analyses. Strikingly, no Native American lineages were found for the Y-chromosome, for which the Eurasian and African contributions were around 80% and 20%, respectively. Conclusion: While the ancestral Native American substrate is still appreciable in the maternal lineages, the extensive process of population admixture in Cuba has left no trace of the paternal Native American lineages, mirroring the strong sexual bias in the admixture processes taking place during colonial times.

Predictability of drug expenditures: An application using morbidity data

The growth of pharmaceutical expenditure and its prediction is a major concern for policy makers and health care managers. This paper explores different predictive models to estimate future drug expenses, using demographic and morbidity individual information from an integrated healthcare delivery organization in Catalonia for years 2002 and 2003. The morbidity information consists of codified health encounters grouped through the Clinical Risk Groups (CRGs). We estimate pharmaceutical costs using several model specifications, and CRGs as risk adjusters, providing an alternative way of obtaining high predictive power comparable to other estimations of drug expenditures in the literature. These results have clear implications for the use of risk adjustment and CRGs in setting the premiums for pharmaceutical benefits.