Encuesta española de reanimación neonatal 5 años después. ¿Vamos mejorando? / Five years after the Spanish neonatal resuscitation survey. Are we improving?

INTRODUCCIÓN: Se analizan prácticas de reanimación neonatal en salas de partos (SP) de centros hospitalarios españoles. MÉTODOS: Se envió un cuestionario por centro a neonatólogos responsables de la atención del RN en SP de hospitales españoles. RESULTADOS: De 180 cuestionarios enviados, se cumplimentaron 155 (86%); 71 centros fueron de nivel I-II(46%) y 84 de nivel III (54%). La familia y el equipo médico participaron en decisiones de no reanimar o interrumpir la reanimación en el 74,2% de los centros. La disponibilidad de 2 o más reanimadores fue del 80% (94,0% en nivel II I y 63,9% en nivel I-II, p < 0,001). En un 90,3% de centros se realizan cursos de Reanimación. En centros de nivel III fueron más frecuentes los mezcladores de gases, pulsioxímetros, ventiladores manuales y envoltorios de plástico. El uso de envoltorios de polietileno fue del 63,9%. En RN a término se inició la reanimación con aire en el 89,7% de los centros. El dispositivo más usado para aplicar VPP fue el «ventilador manual» (78,6% en nivel III y 42,3% en nivel I-II, p < 0,001). En el 91,7% de los centros de nivel III se utilizó CPAP precoz en prematuros. En los últimos 5 años han mejorado prácticas como son la formación de profesionales, el uso de pulsioxímetros y de CPAP precoz. CONCLUSIONES: Existe una mejora progresiva en algunas prácticas de reanimación neonatal. Se encuentran diferencias en aspectos generales, equipamientos y protocolos de actuación durante la reanimación y transporte entre unidades de diferentes niveles

INTRODUCTION: An analysis is presented of delivery room (DR) neonatal resuscitation practices in Spanish hospitals. METHODS: A questionnaire was sent by e-mail to all hospitals attending deliveries in Spain. RESULTS: A total of 180 questionnaires were sent, of which 155 were fully completed (86%). Less than half (71, 46%) were level I or II hospitals, while 84 were level III hospital (54%). In almost three-quarters (74.2%) of the centres, parents and medical staff were involved in the decision on whether to start resuscitation or withdraw it. A qualified resuscitation team (at least two members) was available in 80% of the participant centres (63.9% level I-II, and 94.0% level III,P<.001). Neonatal resuscitation courses were held in 90.3% of the centres. The availability of gas blenders, pulse oximeters, manual ventilators, and plastic wraps was higher in level IIIhospitals. Plastic wraps for pre-term hypothermia prevention were used in 63.9% of the centres (40.8% level I-IIand 83.3% level III, P<.001). Term newborn resuscitation was started on room air in 89.7% of the centres. A manual ventilator (T-piece) was the device used in most cases when ventilation was required (42.3% level I-IIand 78.6% level III, P<.001). Early CPAP in preterm infants was applied in 91.7% of the tertiary hospitals. In last 5 years some practices have improved, such neonatal resuscitation training, pulse oximeter use, or early CPAP support. CONCLUSIONS: There is an improvement in some practices of neonatal resuscitation. Significant differences have been found as regards the equipment or practices in the DR, when comparing hospitals of different levels of care

[Five years after the Spanish neonatal resuscitation survey. Are we improving?]. / Encuesta española de reanimación neonatal 5 años después. ¿Vamos mejorando?

INTRODUCTION: An analysis is presented of delivery room (DR) neonatal resuscitation practices in Spanish hospitals. METHODS: A questionnaire was sent by e-mail to all hospitals attending deliveries in Spain. RESULTS: A total of 180 questionnaires were sent, of which 155 were fully completed (86%). Less than half (71, 46%) were level i or ii hospitals, while 84 were level iii hospital (54%). In almost three-quarters (74.2%) of the centres, parents and medical staff were involved in the decision on whether to start resuscitation or withdraw it. A qualified resuscitation team (at least two members) was available in 80% of the participant centres (63.9% level i-ii, and 94.0% level iii, P<.001). Neonatal resuscitation courses were held in 90.3% of the centres. The availability of gas blenders, pulse oximeters, manual ventilators, and plastic wraps was higher in level iii hospitals. Plastic wraps for pre-term hypothermia prevention were used in 63.9% of the centres (40.8% level i-iiand 83.3% level iii, P<.001). Term newborn resuscitation was started on room air in 89.7% of the centres. A manual ventilator (T-piece) was the device used in most cases when ventilation was required (42.3% level i-iiand 78.6% level iii, P<.001). Early CPAP in preterm infants was applied in 91.7% of the tertiary hospitals. In last 5 years some practices have improved, such neonatal resuscitation training, pulse oximeter use, or early CPAP support. CONCLUSIONS: There is an improvement in some practices of neonatal resuscitation. Significant differences have been found as regards the equipment or practices in the DR, when comparing hospitals of different levels of care.

Single nucleotide polymorphism discovery in albacore and Atlantic bluefin tuna provides insights into worldwide population structure.

The optimal management of the commercially important, but mostly over-exploited, pelagic tunas, albacore (Thunnus alalunga Bonn., 1788) and Atlantic bluefin tuna (BFT; Thunnus thynnus L., 1758), requires a better understanding of population structure than has been provided by previous molecular methods. Despite numerous studies of both species, their population structures remain controversial. This study reports the development of single nucleotide polymorphisms (SNPs) in albacore and BFT and the application of these SNPs to survey genetic variability across the geographic ranges of these tunas. A total of 616 SNPs were discovered in 35 albacore tuna by comparing sequences of 54 nuclear DNA fragments. A panel of 53 SNPs yielded FST values ranging from 0.0 to 0.050 between samples after genotyping 460 albacore collected throughout the distribution of this species. No significant heterogeneity was detected within oceans, but between-ocean comparisons (Atlantic, Pacific and Indian oceans along with Mediterranean Sea) were significant. Additionally, a 17-SNP panel was developed in Atlantic BFT by cross-species amplification in 107 fish. This limited number of SNPs discriminated between samples from the two major spawning areas of Atlantic BFT (FST  = 0.116). The SNP markers developed in this study can be used to genotype large numbers of fish without the need for standardizing alleles among laboratories.

Word recognition and phonological representation in very low birth weight preterms.

BACKGROUND: Several studies have shown impaired neurocognitive development in infants born very preterm. Language is one of the areas that may be affected. Early lexical development measurements have revealed possible delays associated with low gestational age, but no studies have analyzed lexical processing using real-time measures in this at-risk population. AIMS: To explore the effects of preterm birth on the robustness of phonological representations and lexical processing speed. SUBJECTS AND METHODS: Eighteen two-year-old VLBW healthy preterms (≤32weeks of gestation; ≤1500g) and a matched group of at term infants, equivalent in age, gender, SES, linguistic environment and expressive lexicon were compared in a 'looking-while-listening' task, using correctly pronounced and mispronounced known words involving a vowel change. Percentage of target fixation, longest look duration, shift rate and orientation latency measures were used to analyze possible between-group differences in phonological representation and familiar word recognition processes. RESULTS: Based on the percentage of fixation time measure both groups succeeded at word recognition and responded similarly to mispronunciations. However, preterms significantly differed from full-terms in processing speed measures, showing longer look duration, lower shift rate and slower orientation latencies to target from distracter. CONCLUSIONS: Preterm birth negatively affects lexical processing speed. Birth weight and gestational age are two critical variables in these results. Slower language processing in preterms can compromise the acquisition of more complex lexical and grammatical representations later in development and may underlie poor language outcomes frequently observed in children born very prematurely.

Effects of a 10-year conservation programme on the genetic diversity of the Pottoka pony--new clues regarding their origin.

Here, we present the results of a genetic analysis of 463 Pottoka ponies corresponding to four generations, using 17 microsatellite markers. Ten years after the beginning of the Pottoka conservation programme, the values for the genetic diversity of the breed are still high and stable, indicating the success of the programme. We found null alleles in Pottoka for the ASB23, HMS3 and HTG10 microsatellites. Together with information obtained from other pony breeds from the Iberian Peninsula, this finding indicates that these microsatellites should not be used for phylogenetic analyses or parentage tests, at least for these breeds. The high heterozygosity exhibited by this breed in comparison to other ponies, together with its genetic proximity to the centroid of the allele frequencies, suggest that Pottoka allele frequencies are close to those initially exhibited by the ancestors of current European ponies. The results obtained in the current work, together with results from previous studies of ponies and horses from the Iberian Peninsula, corroborate the idea of a unique origin of all ponies from the European Atlantic Area. In contrast, our results do not corroborate the idea that these are derived from a domestication event in the Iberian Peninsula, nor that they have incorporated ancient Iberian horse genes into their genetic pool to a larger extent than other horse breeds.

Disfunción neurologica inducida por bilirrubina / Neurological dysfunction induced by bilirrubin

El término “kernicterus” se aplicó inicialmente a la tinción amarilla de los ganglios basales en estudios necrópsicos, pero es un término impreciso y se habla más de encefalopatía por bilirrubina o de disfunción neurológica inducida por la bilirrubina. Clínicamente la toxicidad por hiperbilirrubinemia puede ser muy variable y en países desarrollados tiende a desaparecer. Material y métodos: Revisamos una serie de 7 pacientes con encefalopatía por bilirrubina y diferentes grados de compromiso neurológico, atendidos en los últimos 10 años en el Servicio. Solo falleció un paciente en período neonatal con hiperbilirrubinemia, sepsis y fallo multiorgánico. Resultados: Las causas etiológicas de la hiperbilirrubinemia fueron muy variadas. Los 7 pacientes presentaron ictericia, clínica neonatal, la neuroimagen ya permitió demostrar las lesiones en núcleo pálido con hiperintensidad de T1. Todos los pacientes presentaron manifestaciones clínicas en período neonatal, y secuelas neurológicas más o menos graves en los 6 supervivientes que se intentan correlacionar con los demás parámetros bioquímicos, clínicos, de neuroimagen y neurofisiológicos. Conclusiones: Hemos constatado un incremento de las observaciones de disfunción neurológica inducida por la bilirrubina y nos planteamos conocer las causas de esta situación. La mayor supervivencia de los grandes prematuros, el aumento de la población inmigrante y la posibilidad del diagnóstico por neuroimagen contribuyen a este incremento. Continua siendo un reto para el neonatólogo y el neuropediatra evitar su presentación y minimizar los efectos de la toxicidad por bilirrubina en período neonata (AU)

Introduction: "Kernicterus” is a term currently used to describe bilirrubin induced brain injury in the neuro-pathological studies. This is a confusing term and nowadays we prefer bilirrubin encephalopathy or bilirrubin induced neurological dysfunction. The clinical signs vary and it is clearly decreasing in prevalence in developed countries.Material and methods: We review a series of 7 patients with bilirrubin encephalopathy and variable neurological manifestations, who were seen in the Neuropaediatric Department in the last 10 years. Only one patient died in the neonatal period with hyperbilirubinaemia, sepsis and multi-organ failure. Results: Diverse aetiological factors were related to hyperbilirubinaemia. All patients had clinical symptoms due to hyperbilirubinaemia. Neuroimaging during the neonatal period showed involvement of the nucleus pallidus, with hyperintensity in T1 in the brain MR scan as the most consistent finding. All the patients who survived developed neurological signs and we try to correlate them with biochemical, clinical, neuroimaging and neurophysiological parameters. Conclusions: An increase in the number of patients with bilirrubin encephalopathy has been observed over the last few years, and we attempt to find out the causes. The increased survival of the low birth weight newborns, the increase in the immigration population and the use of diagnostic neuroimaging contribute to this increase. It is a great challenge for the neonatologist and for neuropaediatricians to prevent its occurrence and to minimise the effects of bilirrubin encephalopathy (AU)

Permanent genetic resources added to Molecular Ecology Resources Database 1 October 2011-30 November 2011.

This article documents the addition of 139 microsatellite marker loci and 90 pairs of single-nucleotide polymorphism sequencing primers to the Molecular Ecology Resources Database. Loci were developed for the following species: Aglaoctenus lagotis, Costus pulverulentus, Costus scaber, Culex pipiens, Dascyllus marginatus, Lupinus nanus Benth, Phloeomyzus passerini, Podarcis muralis, Rhododendron rubropilosum Hayata var. taiwanalpinum and Zoarces viviparus. These loci were cross-tested on the following species: Culex quinquefasciatus, Rhododendron pseudochrysanthum Hay. ssp. morii (Hay.) Yamazaki and R. pseudochrysanthum Hayata. This article also documents the addition of 48 sequencing primer pairs and 90 allele-specific primers for Engraulis encrasicolus.

[Neurological dysfunction induced by bilirrubin]. / Disfunción neurológica inducida por bilirrubina.

INTRODUCTION: "Kernicterus" is a term currently used to describe bilirrubin induced brain injury in the neuro-pathological studies. This is a confusing term and nowadays we prefer bilirrubin encephalopathy or bilirrubin induced neurological dysfunction. The clinical signs vary and it is clearly decreasing in prevalence in developed countries. MATERIAL AND METHODS: We review a series of 7 patients with bilirrubin encephalopathy and variable neurological manifestations, who were seen in the Neuropaediatric Department in the last 10 years. Only one patient died in the neonatal period with hyperbilirubinaemia, sepsis and multi-organ failure. RESULTS: Diverse aetiological factors were related to hyperbilirubinaemia. All patients had clinical symptoms due to hyperbilirubinaemia. Neuroimaging during the neonatal period showed involvement of the nucleus pallidus, with hyperintensity in T1 in the brain MR scan as the most consistent finding. All the patients who survived developed neurological signs and we try to correlate them with biochemical, clinical, neuroimaging and neurophysiological parameters. CONCLUSIONS: An increase in the number of patients with bilirrubin encephalopathy has been observed over the last few years, and we attempt to find out the causes. The increased survival of the low birth weight newborns, the increase in the immigration population and the use of diagnostic neuroimaging contribute to this increase. It is a great challenge for the neonatologist and for neuropaediatricians to prevent its occurrence and to minimise the effects of bilirrubin encephalopathy.

Adaptación de las recomendaciones internacionales sobre reanimación neonatal 2010: comentarios / Changes in the international recommendations on neonatal resuscitation, 2010: comments

Desde la publicación de las últimas recomendaciones ILCOR del 2005, los cambios más significativos que se han implementado en las del 2010 son los siguientes: valoración del recién nacido mediante 2 características vitales (frecuencia cardiaca y respiración) para decidir inicialmente el siguiente paso en la reanimación; evaluación de la oxigenación mediante monitorización por pulsioximetría (el color no es fiable); inicio de la reanimación con aire en el recién nacido a término en lugar de oxígeno al 100%; uso de mezcladores de oxígeno y aire para administrar oxígeno suplementario en caso de necesidad; controversia en la aspiración endotraqueal en recién nacidos deprimidos con aguas meconiales; la proporción de ventilación compresión sigue siendo de 3/1, excepto en la parada cardiorrespiratoria de origen cardiaco, en que se debería considerar una proporción más alta; indicación de hipotermia terapéutica en recién nacidos a término o casi término diagnosticados de encefalopatía hipóxico-isquémica moderada o grave con protocolos y seguimiento coordinados por el sistema regional perinatal (cuidados posreanimación); retraso de al menos 1 min en la ligadura del cordón umbilical de recién nacidos que no requieren reanimación (no existe suficiente evidencia para recomendar un tiempo de ligadura de cordón en aquellos que requieren reanimación), y si no se detecta latido cardiaco después de 10 min de una correcta reanimación, se acepta desde un punto de vista ético, la posibilidad de interrumpir la reanimación, aunque muchos factores contribuyen a la decisión de seguir más allá de 10 min. En determinadas situaciones, no iniciar la reanimación se puede plantear teniendo en cuenta las recomendaciones generales, los resultados propios y la opinión de los padres (AU)

Since previous publication in 2005, the most significant changes that have been addressed in the 2010 International Liaison Committee on Resuscitation (ILCOR) recommendations are as follows: (I) use of 2 vital characteristics (heart rate and breathing) to initially evaluate progression to the following step in resuscitation; (II) oximetry monitoring for the evaluation of oxygenation (assessment of color is unreliable); (III) for babies born at term it is better to start resuscitation with air rather than 100% oxygen; (IV) administration of supplementary oxygen should be regulated by blending oxygen and air; (V) controversy about endotraqueal suctioning of depressed infants born through meconium-stained amniotic fluid; (VI) chest compression-ventilation ratio should remain at 3/1 for neonates unless the arrest is known to be of cardiac etiology, in which case a higher ratio should be considered; (VII)use of therapeutic hypothermia for infants born at term or near term evolving to moderate or severe hypoxic-ischemic encephalopathy, with protocol and follow-up coordinated through a regional perinatal system (post-resuscitation management); (VIII) cord clamping delay for at least 1 minute in babies who do not require resuscitation (there is insufficient evidence to recommend a time for clamping in those who require resuscitation) and, (IX) it is appropriate to consider discontinuing resuscitation if there has been no detectable heart rate for 10 minutes, although many factors contribute to the decision to continue beyond 10 minutes. Under certain circumstances, non-initiation of resuscitation could be proposed taking into consideration general recommendations, own results and parents’ opinion (AU)

Genetic variation of toll-like receptor genes and infection by Mycobacterium avium ssp. paratuberculosis in Holstein-Friesian cattle.

Toll-like receptors (TLR) are membrane proteins that play a key role in innate immunity, by recognizing pathogens and subsequently activating appropriate responses. Mutations in TLR genes are associated with susceptibility to inflammatory and infectious diseases in humans. In cattle, 3 members of the TLR family, TLR1, TLR2, and TLR4, are associated with Mycobacterium avium ssp. paratuberculosis infection, although the extent of this association for the TLR1 and TLR4 receptors has not yet been determined. Moreover, the causal variant in the TLR2 gene has not yet been unequivocally established. In this study, 24 single nucleotide polymorphisms (SNP) in the bovine TLR1, TLR2, and TLR4 genes were selected from the literature, databases, and in silico searches, for a population-based genetic association study of a Spanish Holstein-Friesian sample. Whereas previous results regarding the TLR1 gene were not corroborated, a risk haplotype was detected in TLR2; however, its low frequency indicates that this detected association should be interpreted with caution. In the case of the TLR4 gene, 3 tightly linked SNP were found to be associated with susceptibility to M. avium ssp. paratuberculosis infection. Moreover, one of these SNP, the SNP c.-226G>C, which is localized in the 5'UTR region of the TLR4 gene, has been reported to be able to alter TLR4 expression, raising the possibility that this mutation may contribute to the response of the individual to infection.

[Changes in the international recommendations on neonatal resuscitation, 2010: comments]. / Adaptación de las recomendaciones internacionales sobre reanimación neonatal 2010: comentarios.

Since previous publication in 2005, the most significant changes that have been addressed in the 2010 International Liaison Committee on Resuscitation (ILCOR) recommendations are as follows: (i) use of 2 vital characteristics (heart rate and breathing) to initially evaluate progression to the following step in resuscitation; (ii) oximetry monitoring for the evaluation of oxygenation (assessment of color is unreliable); (iii) for babies born at term it is better to start resuscitation with air rather than 100% oxygen; (iv) administration of supplementary oxygen should be regulated by blending oxygen and air; (v) controversy about endotraqueal suctioning of depressed infants born through meconium-stained amniotic fluid; (vi) chest compression-ventilation ratio should remain at 3/1 for neonates unless the arrest is known to be of cardiac etiology, in which case a higher ratio should be considered; (vii) use of therapeutic hypothermia for infants born at term or near term evolving to moderate or severe hypoxic-ischemic encephalopathy, with protocol and follow-up coordinated through a regional perinatal system (post-resuscitation management); (viii) cord clamping delay for at least 1 minute in babies who do not require resuscitation (there is insufficient evidence to recommend a time for clamping in those who require resuscitation) and, (ix) it is appropriate to consider discontinuing resuscitation if there has been no detectable heart rate for 10 minutes, although many factors contribute to the decision to continue beyond 10 minutes. Under certain circumstances, non-initiation of resuscitation could be proposed taking into consideration general recommendations, own results and parents' opinion.

Abandonos en el seguimiento de recién nacidos de muy bajo peso antes de los 2 años / Follow-up programme dropouts in very low weight newborns before two years of age

Introducción: El aumento en la supervivencia de recién nacidos de muy bajo peso (RNMBP) y su morbilidad neuroevolutiva obliga a implementar programas de seguimiento, cuyo abandono limita la consecución de los objetivos asistenciales y la validez de los estudios. Objetivos: De los RNMBP asistidos entre 2002-2005 en nuestra unidad neonatal y perdidos en seguimiento antes de 2 años, se pretende conocer su neurodesarrollo, morbilidad post-alta y situación sociocultural y compararlos con los seguidos. Pacientes: Se asiste a 318 RNMBP, de los cuales 53 (16,6%) fallecen. A los 2 años completan el seguimiento 215 (grupo S) y 50 lo abandonan (grupo A).Métodos: Revisión de historias y bases de datos. Entrevista telefónica sistematizada a padres que abandonan seguimiento. Resultados: Se entrevista a 30 casos (grupo R) del grupo perdido. De ellos, 6 pacientes ingresan por patología respiratoria; el 26,7% (8 casos) presenta secuelas neuroevolutivas (1 grave; 1moderada; 6 leves) frente al 14% en el grupo S (p < 0,05). El grupo R, comparado con el grupo S, presenta una mayor tasa de inmigración (14 vs 40%), menor nivel de estudios parental y mayor distancia casa-hospital (p < 0,05). En el grupo R, el 57% tiene nivel socioeconómico bajo. Conclusiones: La entrevista telefónica ha permitido conocer la situación clínica del 60% de RNMBP perdidos en seguimiento. Hay una mayor tasa de secuelas en el grupo perdido, aunque en su mayoría son leves. Una serie de factores sociales, económicos y culturales desfavorableshan podido influir en el abandono. Conviene elaborar estrategias para evitar en lo posible pérdidas en el seguimiento (AU)

Introduction: The increase in survival rates of very low weight newborns (VLWN) and their neurodevelopmental morbidity has led to the implementation of follow-up programmes. The withdrawal from follow up limits the achievement of care goals and the validity of studies in this field. Goals: To assess the neurodevelopmental status, morbidity, social and economical data in the VLWN seen in our Neonatal Care Unit between 2002 and 2005 and lost in the follow up programme before the age of two, and compare these findings with the group who completed follow up. Patients: A total of 318 VLWN were included, of 53 had died. At the age of two, 215 had completed the monitoring visits (group S) and 50 had quit (group A).Methods: Using the SEN 1500 data base, and telephone interview of those parents who quit the programme. Results: A total of 30 cases were interviewed (Group R). Six patients had e been admitted to hospital due to respiratory illness; 26.7% had neurodevelopmental impairment (1 case, severe;1 case, moderate; 6 cases, mild) compared to 14% in group S (P < 0.05). In group R, compared with group S, included more immigrants (40 vs. 14%), parental education level was lower and distance between home and hospital was greater (P < 0.05). In group R, 57% of families had a low socioeconomic standard. Conclusions: The telephone interview allowed the clinical status of 60% of VLWN lost to follow up to be determined. Sequelae rate, mainly mild, was higher in the lost-to follow-up group. Some unfavourable social, economical and cultural factors could have influenced the interruption. It is advisable to develop strategies to prevent loss in the follow up (AU)

[Follow-up programme dropouts in very low weight newborns before two years of age]. / Abandonos en el seguimiento de recién nacidos de muy bajo peso antes de los 2 años.

INTRODUCTION: The increase in survival rates of very low weight newborns (VLWN) and their neurodevelopmental morbidity has led to the implementation of follow-up programmes. The withdrawal from follow up limits the achievement of care goals and the validity of studies in this field. GOALS: To assess the neurodevelopmental status, morbidity, social and economical data in the VLWN seen in our Neonatal Care Unit between 2002 and 2005 and lost in the follow up programme before the age of two, and compare these findings with the group who completed follow up. PATIENTS: A total of 318 VLWN were included, of 53 had died. At the age of two, 215 had completed the monitoring visits (group S) and 50 had quit (group A). METHODS: Using the SEN 1500 data base, and telephone interview of those parents who quit the programme. RESULTS: A total of 30 cases were interviewed (Group R). Six patients had been admitted to hospital due to respiratory illness; 26.7% had neurodevelopmental impairment (1 case, severe; 1 case, moderate; 6 cases, mild) compared to 14% in group S (P<.05). In group R, compared with group S, included more immigrants (40 vs. 14%), parental education level was lower and distance between home and hospital was greater (P<.05). In group R, 57% of families had a low socioeconomic standard. CONCLUSIONS: The telephone interview allowed the clinical status of 60% of VLWN lost to follow up to be determined. Sequelae rate, mainly mild, was higher in the lost-to- follow-up group. Some unfavourable social, economical and cultural factors could have influenced the interruption. It is advisable to develop strategies to prevent loss in the follow up.

SP110 as a novel susceptibility gene for Mycobacterium avium subspecies paratuberculosis infection in cattle.

The intracellular pathogen resistance 1 (Ipr1) gene has been reported to play a role in mediating innate immunity in a mouse model of Mycobacterium tuberculosis infection, and polymorphisms of its human ortholog, SP110 nuclear body protein, have been suggested to be associated with tuberculosis. Thus, the bovine SP110 gene was considered to be a promising candidate for a genetic association study of bovine paratuberculosis, or Johne's disease, a chronic granulomatous enteritis caused by Mycobacterium avium ssp. paratuberculosis (MAP). Initially, single nucleotide polymorphisms (SNP) within the bovine SP110 gene were identified, and subsequently a population-based genetic association study was carried out. Seventeen new SNP along the SP110 gene were identified in Holstein-Friesian cattle, and 6 more were compiled from public databases. A total of 14 SNP were included in the association study of 2 independent populations. The SNP c.587A>G was found to be significantly associated with MAP infection, with the major allele A appearing to confer greater disease susceptibility in one of the analyzed populations. In addition, 2 haplotypes containing this SNP were also found to be associated with infection in the same population. The SNP c.587A>G is a nonsynonymous mutation that causes an amino acid change in codon 196 from asparagine to serine. In silico analyses point to SNP c.587A>G as a putative causal variant for susceptibility to MAP infection. The elucidation of the precise mechanism by which this SNP can exert its effect in the protein and, as a result, in the risk of infection, requires future functional analyses. Likewise, the absence of genetic association in one of the analyzed populations renders it necessary to carry out this study in other independent populations, with the aim of substantiating the repeatability of the present results. Nevertheless, the present results deepen our understanding of the genetic basis of susceptibility and resistance mechanisms related to MAP infection in cattle and, in turn, constitute a step forward toward the implementation of marker-assisted selection in breeding programs aimed at controlling paratuberculosis.

Genetic association between bovine NOD2 polymorphisms and infection by Mycobacterium avium subsp. paratuberculosis in Holstein-Friesian cattle.

Nucleotide-Binding Oligomerization Domain 2 (NOD2) has been reported to be a candidate gene for Mycobacterium avium subsp. paratuberculosis (MAP) infection in a Bos taurus × Bos indicus mixed breed based on a genetic association with the c.2197T>C single nucleotide polymorphism (SNP). Nevertheless, this SNP has also been reported to be monomorphic in the B. taurus species. In the present work, 18 SNPs spanning the bovine NOD2 gene have been analysed in a genetic association study of two independent populations of Holstein-Friesian cattle. We found that the C allele of SNP c.*1908C>T, located in the 3'-UTR region of the gene, is significantly more frequent in infected animals than in healthy ones, which supports the idea that the bovine NOD2 gene plays a role in susceptibility to MAP infection. However, in silico analyses of the NOD2 nucleotide sequence did not yield definitive data about a possible direct effect of SNP c.*1908C>T on susceptibility to infection and led us to consider its linkage disequilibrium with the causative variant. A more exhaustive genetic association study including all putative, functional SNPs from this gene and subsequent functional analyses needs to be conducted to achieve a more complete understanding of how different variants of NOD2 may affect susceptibility to MAP infection in cattle.

Identification of single nucleotide polymorphisms in the bovine solute carrier family 11 member 1 (SLC11A1) gene and their association with infection by Mycobacterium avium subspecies paratuberculosis.

Johne's disease is a chronic enteritis caused by Mycobacterium avium ssp. paratuberculosis (MAP) that causes substantial financial losses for the cattle industry. Susceptibility to MAP infection is reported to be determined in part by genetic factors, so marker-assisted selection could help to obtain bovine populations that are increasingly resistant to MAP infection. Solute carrier family 11 member 1 (SLC11A1) was adjudged to be a potential candidate gene because of its role in innate immunity, its involvement in susceptibility to numerous intracellular infections, and its previous association with bovine MAP infection. The objectives of this study were to carry out an exhaustive process of discovery and compilation of polymorphisms in SLC11A1 gene, and to perform a population-based genetic association study to test its implication in susceptibility to MAP infection in cattle. In all, 57 single nucleotide polymorphisms (SNP) were detected, 25 of which are newly described in Bos taurus. Twenty-four SNP and two 3'-untranslated region polymorphisms, previously analyzed, were selected for a subsequent association study in 558 European Holstein-Friesian animals. The SNP c.1067C>G and c.1157-91A>T and a haplotype formed by these 2 SNP yielded significant association with susceptibility to MAP infection. The c.1067C>G is a nonsynonymous SNP that causes an amino acid change in codon 356 from proline to alanine (P356A) that could alter SLC11A1 protein function. This association study supports the involvement of SLC11A1 gene in susceptibility to MAP infection in cattle. Our results suggest that SNP c.1067C>G may be a potential causal variant, although functional studies are needed to assure this point.

Rehabilitación cognitiva en trastornos psiquiátricos graves: aplicación de los subprogramas cognitivos de la terapia psicológica integrada (IPT) / Cognitive rehabilitation in psychiatric serious disorders: application of the cognitive subprograms of the IPT

El objetivo del estudio fue conocer los efectos de los subprogramas cognitivos de la Terapia Psicológica Integrada (IPT) en pacientes con trastornos psicóticos. La investigación, de tipo experimental, midió los cambios en los procesos cognitivos básicos y, a su vez, en la sintomatología, las habilidades sociales y de resolución de problemas. Los participantes fueron 32 pacientes en tratamiento ambulatorio diagnosticados de esquizofrenia y trastorno esquizoafectivo (F20 y F21), divididos en dos condiciones: experimental y control. Los participantes del grupo experimental asistieron a un programa de IPT durante seis meses, a razón de dos sesiones semanales. El grupo control no recibió ningún programa terapéutico de rehabilitación. En el análisis de las medidas pre-post tratamiento para el grupo experimental, encontrándose una mejoría estadísticamente significativa tanto para la sintomatología cognitiva (Mpre=4,05 vs Mpost=3,60), como para la afectiva (Mpre= 4,35 vs. Mpost= 4,00) y la negativa (Mpre=4,65 vs Mpost=.4, 25). También, en las medidas del rendimiento se ha podido observar un incremento en el rendimiento (Mpre=12 vs. Mposts=13.95), en la medida de atención selectiva y memoria auditiva. Por último, se encontró una mejora en la satisfacción con la vida (Mpre=55,60 vs. Mpost= 53,67). Los participantes del grupo control, por el contrario, no experimentaron cambios significativos en ninguna de las variables medidas. Se evidencia la eficacia de la implementación de un programa de tratamiento psicológico integrado en la rehabilitación cognitiva de los pacientes psicóticos. Así mismo, se discuten las limitaciones y las implicaciones para futuras aplicaciones de la IPT en esta población (AU)

The aim of this study was know the effects of the cognitive subprograms of the IPT in patients with psychotic disorders. The experimental research measured the changes in the cognitive basic processes and, in turn, in symptomatology, social skills and problems resolution. The participants were 32 patients in ambulatory treatment diagnosed of schizophrenia and schizoaffective disorder, divided in two conditions: experimental and control. The participants of the experimental group participated at IPT’s program for six months, with the frequency of two weekly meetings. The group control did not receive any therapeutic program of rehabilitation. The analysis of the measures pre-postest of the experimental group showed a statistically significant improvement in the cognitive symptomatology (M=4, 05 vs M=3, 60), affective (M=4, 35 vs. = 4, 00) and denial (M=5, 00 vs M =.4, 75). As well as, in the cognitive performance (M =12 vs. M=13, 95), mainly in selective attention and auditory report. Finally, we found an improvement in the satisfaction with the life (M=55, 60 vs. M = 53, 67). The participants of the control group did not experience significant changes in any of the measured variables. The results demonstrate the efficiency of the implementation of a program of integrated psychological treatment to the cognitive rehabilitation of the psychotic patients. The limitations and the implications are discussed for future applications of the IPT in this population (AU)

Algoritmo para la asignación etiológica de la prematuridad / Algorithm for an etiological classification of prematurity

Ante la dificultad para clasificar etiológicamente la prematuridad, en la práctica se ha impuesto una división en 3 subtipos según la presentación clínica: prematuridad médicamente indicada, rotura prematura de membranas (RPM) y espontánea o idiopática. Sin embargo, esta categorización es discutible, resulta poco precisa y admite criterios diversos a la hora de su aplicación. Objetivo: Elaborar una clasificación causal de la prematuridad y diseñar un sistema que facilite la asignación de cada caso concreto en el período perinatal. Métodos: Revisión sistematizada de la literatura médica, técnica cualitativa de consenso mediante grupo nominal, y cuantitativa, mediante estudio piloto con la versión inicial del algoritmo. Resultados: Se elaboró una clasificación que estableció una división general entre causa «próxima principal» y «causas asociadas», lo que permitió incluir concausas e, incluso, factores de riesgo más remotos. La causa principal incluyó 7 grandes categorías: inflamatorias (RPM y afines), vasculares (restricción del crecimiento intrauterino y afines), maternas locales, maternas generales, enfermedad fetal, pérdida de bienestar fetal e idiopáticas. La prematuridad de causa electiva o «por indicación médica» se estableció como categoría previa e independiente y, por tanto, compatible con las otras causas consideradas. Para facilitar el establecimiento de la causa principal, se diseñó un algoritmo con formato de diagrama de flujo unidireccional. Conclusiones: Se propone una clasificación pragmática de la prematuridad que facilite un cierto grado de precisión y la concordancia entre los clínicos (AU)

Due to the difficulty in classifying the etiology of preterm birth, it has been dicided into three subtypes according to its clinical presentation: medically indicated, ruptured membranes, and spontaneous or idiopathic. Nevertheless, this classification is controversial, imprecise and can result in multiple interpretations when applied. Objective: To design an etiologically based classification of preterm birth, and to design a system to easily assign each case during the perinatal period. Methods: Review of literature, qualitative analysis using consensus methods through nominal group technique, and quantitative analysis of a pilot study using a first version of the algorithm. Results: A classification is made to establish a general division between the “primary cause” and “associated causes” of preterm birth, that allows remote causes or risk factors to be included. The primary cause includes seven categories: inflammatory (ruptured membranes and related); vascular (intrauterine growth restriction and related); maternal–local; maternal–systemic; fetal pathology; fetal distress; idiopathic. The medically indicated preterm birth is defined as a previous or independent category and so is compatible with the other, previously mentioned causes. An algorithm was designed to make it easier to classify the primary cause of preterm birth usinf a flowchart. Conclusions: A pragmatic classification of preterm birth is proposed that may help to achieve better precision and agreement between clinicians (AU)