Imaging findings in fetal diaphragmatic abnormalities.

Imaging plays a key role in the detection of a diaphragmatic pathology in utero. US is the screening method, but MRI is increasingly performed. Congenital diaphragmatic hernia is by far the most often diagnosed diaphragmatic pathology, but unilateral or bilateral eventration or paralysis can also be identified. Extralobar pulmonary sequestration can be located in the diaphragm and, exceptionally, diaphragmatic tumors or secondary infiltration of the diaphragm from tumors originating from an adjacent organ have been observed in utero. Congenital abnormalities of the diaphragm impair normal lung development. Prenatal imaging provides a detailed anatomical evaluation of the fetus and allows volumetric lung measurements. The comparison of these data with those from normal fetuses at the same gestational age provides information about the severity of pulmonary hypoplasia and improves predictions about the fetus's outcome. This information can help doctors and families to make decisions about management during pregnancy and after birth. We describe a wide spectrum of congenital pathologies of the diaphragm and analyze their embryological basis. Moreover, we describe their prenatal imaging findings with emphasis on MR studies, discuss their differential diagnosis and evaluate the limits of imaging methods in predicting postnatal outcome.

Tomografia computadorizada de abdome normal: estudo retrospectivo das angulações dos hilos renais

OBJETIVO: Obter valores da angulação média dos hilos renais em relação ao plano horizontal, traçado sobre músculos eretores da espinha direito e esquerdo, considerando como parâmetro de referência para as medidas das angulações o centro da coluna vertebral lombar. MATERIAIS E MÉTODOS: Foram analisados 250 exames de tomografia computadorizada de abdomes considerados normais de indivíduos de ambos os sexos, sendo 128 masculinos (idade média de 52,45 ± 17,42 anos) e 122 femininos (idade média de 54,39 ± 18,27 anos), totalizando 500 hilos renais estudados. A angulação média de cada hilo renal em relação ao plano horizontal foi obtida, sendo considerados sempre os ângulos agudos. RESULTADOS: O estudo comparativo entre os sexos mostrou que não houve diferença estatisticamente significante em relação aos ângulos agudos dos hilos renais. A análise estatística mostrou, com intervalo de confiança de 95%, para média do ângulo direito os limites de 40,40° e 44,54° e para o hilo renal esquerdo os limites de 39,91° e 43,23°. CONCLUSÃO: Os hilos renais, independentemente do sexo, apresentam angulações semelhantes. Valores angulares maiores terão anomalia de hiper-rotação ou hiper-rotação exagerada e valores menores terão anomalia de rotação incompleta ou rotação invertida.

Birth Weight, Working Memory and Epigenetic Signatures in IGF2 and Related Genes: A MZ Twin Study.

Neurodevelopmental disruptions caused by obstetric complications play a role in the etiology of several phenotypes associated with neuropsychiatric diseases and cognitive dysfunctions. Importantly, it has been noticed that epigenetic processes occurring early in life may mediate these associations. Here, DNA methylation signatures at IGF2 (insulin-like growth factor 2) and IGF2BP1-3 (IGF2-binding proteins 1-3) were examined in a sample consisting of 34 adult monozygotic (MZ) twins informative for obstetric complications and cognitive performance. Multivariate linear regression analysis of twin data was implemented to test for associations between methylation levels and both birth weight (BW) and adult working memory (WM) performance. Familial and unique environmental factors underlying these potential relationships were evaluated. A link was detected between DNA methylation levels of two CpG sites in the IGF2BP1 gene and both BW and adult WM performance. The BW-IGF2BP1 methylation association seemed due to non-shared environmental factors influencing BW, whereas the WM-IGF2BP1 methylation relationship seemed mediated by both genes and environment. Our data is in agreement with previous evidence indicating that DNA methylation status may be related to prenatal stress and later neurocognitive phenotypes. While former reports independently detected associations between DNA methylation and either BW or WM, current results suggest that these relationships are not confounded by each other.

An active zone characterized by slow normal faults, the northwestern margin of the València trough (NE Iberia): a review

The northwestern margin of the Valencia trough is an area of low strain characterized by slow normal faults and low to moderate seismicity. Since the mid 1990s this area has been the subject of a number of studies on active tectonic which have proposed different approaches to the location of active faults and to the calculation of the parameters that describe their seismic cycle. Fifty-six active faults have been found and a classification has been made in accordance with their characteristics: a) faults with clear evidence of large paleo-, historic or instrumental earthquakes (2/56); b) faults with evidence of accumulated activity during the Plio-Quaternary and with associated instrumental seismicity (7/56); c) faults with evidence of accumulated activity during the Plio-Quaternary and without associated instrumental seismicity (17/56); d) faults with associated instrumental seismicity and without evidence of accumulated activity during the Plio-Quaternary (30/56), and e) faults without evidence of activity or inactive faults. The parameters that describe the seismic cycle of these faults have been evaluated by different methods that use the geological data obtained for each fault except when paleoseismological studies were available. This classification can be applied to other areas with low slip faults because of the simplicity of the approaches adopted. This study reviews the different approaches proposed and describes the active faults located, highlighting the need a) to better understand active faults in slow strain zones through paleoseismological studies, and b) to include them in seismic hazard studies.

Expressive writing intervention for mothers following the birth of their premature baby.

The birth of a preterm infant is in most cases unexpected and can be a distressing experience for parents. Parents of premature babies report more stress, experience more adjustment difficulties and need for support during the first year after delivery compared to parents of infants born at term. It has been documented that parents may experience posttraumatic stress reactions, anxiety and depression following the premature birth of their baby, which subsequently may impact on the mother-baby-interactions, their attachment relationship and the cognitive, social and behavioural development of the baby. In this pilot study, we offered an expressive writing intervention to women who recently had a premature baby to alleviate their psychological distress and to improve their physical health. During the expressive writing intervention, women were asked to write down their deepest thoughts and feelings about the most traumatic aspect of their experience of having a premature baby for 15 min over three consecutive days. The aims of the study were as follows: (1) To evaluate the effect of expressive writing on psychological and physical health in women who recently had a premature baby. (2) To evaluate the effect of expressive writing on the use of healthcare services and medication in this population. (3) To evaluate the acceptability and feasibility of this intervention for this population. Forty participants were randomly allocated to either the expressive writing intervention group or a wait list control group. Pre- and post questionnaires to evaluate the effectiveness of the expressive writing intervention, as well as their acceptability and feasibility were completed. The intervention took place when the baby was 3 months of corrected age. Post-measures were completed at 1 and 3 months following the intervention. Results and their clinical implications will be discussed with regards to the implementation of this safe and cost-effective method as a preventative measure in the routine care of women who recently gave birth to a premature baby

High Prevalence of Signs of Renal Damage Despite Normal Renal Function in a Cohort of HIV-Infected Patients: Evaluation of Associated Factors

Renal disorders are an emerging problem in HIV-infected patients. We performed a cross-sectional study of the first 1000 HIV-infected patients attended at our HIV unit who agreed to participate. We determined the frequency of renal alterations and its related risk factors. Summary statistics and logistic regression were applied. The study sample comprised 970 patients with complete data. Most were white (94%) and men (76%). Median (IQR) age was 48 (42–53) years. Hypertension was diagnosed in 19%, dyslipidemia in 27%, and diabetes mellitus in 3%. According to the Chronic Kidney Disease Epidemiology Collaboration (CKD EPI) equation, 29 patients (3%) had an eGFR < 60 ml/min/1.73m2; 18 of them (62%) presented altered albumin/creatinine and protein/creatinine (UPC or UAC) ratios. Of the patients with eGFR> 60mL/min, it was present in 293 (30%), 38 of whom (7.1%) had UPC> 300mg/g. Increased risk of renal abnormalities was correlated with hypertension (OR, 1.821 [95%CI, 1.292;2.564]; p = 0.001), age (OR, 1.015 [95%CI, 1.001;1.030], per one year; p = 0.040), and use of tenofovir disoproxil fumarate (TDF) plus protease inhibitor (PI), (OR, 1.401 [95%CI, 1.078;1.821]; p = 0.012). Current CD4 cell count was a protective factor (OR, 0.9995 [95%CI, 0.9991;0.9999], per one cell; p = 0.035). A considerable proportion of patients presented altered UPC or UAC ratios, despite having an eGFR > 60mL/min. CD4 cell count was a protective factor; age, hypertension, and use of TDF plus PIs were risk factors for renal abnormalities. Based on our results, screen of renal abnormalities should be considered in all HIV-infected patients to detect these alterations early.

Phenotypical analysis of mice deficient for the channel activating protease CAP2

Channel activating proteases (CAP) are membrane-bound serine proteases that have been identified as in vitro activators of the epithelial sodium channel (ENaC). Two of them are mainly studied in the laboratory. CAP1/Prss8 was previously shown implicated in colonic sodium homeostasis in vivo. In the first part of this thesis, we generated and characterized mice deficient for CAP2/Tmprss4. The mice are healthy and viable, and they do not show any obvious phenotype. We investigated ENaC activity and expression under regular and sodium- deficient diet, and we could demonstrate that CAP2 is not a major regulator of sodium homeostasis in vivo. We next studied whether CAP2 is implicated in potassium homeostasis. We detected a strong gender-dependency when CAP2 knock-out mice were put under a potassium-deficient diet. We showed in male mice an implication of CAP2 in the regulation of the colonic H+, K+- ATPase, and we propose an implication of membrane-associated progesterone receptors and their binding partners, as well as a possible cleavage-mediated glucocorticoid receptor signalling. We studied the possible interaction between CAPI and CAP2 by generating and characterizing two different mouse study groups, displaying different hypomorphic mutations in the CAPI gene, and deficient for CAP2. We demonstrate that balanced expression of CAPI and CAP2 is required for maintainance of skin integrity and for normal placental development. As CAPI knock-out embryos die due to a placental failure, the additional combined deletion of CAP2 resulted in survival until birth. We could evidence that CAPI and CAP2 are implicated in the same signalling pathway as proposed in cancer studies at the level of the placenta, implicating integrin a5, ERK, AKT, E- and N-cadherin. Furthermore, we investigated whether CAPI is implicated in the pathogenesis and susceptibility to experimental chronic colitis in a mutant rat model. By giving CAPI mutant rats Dextran sodium sulfate, we induced chronic inflammation of the colon, and we highlighted the protective role of CAPI at the histopathological and clinical levels. In conclusion, we showed that CAP2 is not a major regulator of ENaC-mediated sodium homeostasis in vivo, but rather a regulator of potassium homeostasis in a gender-dependent manner implicating the colonic H+, K+-ATPase, membrane progesterone receptors, and the glucocorticoid receptor. We have investigated whether CAPI and CAP2 interact at the functional level, and we show that a balanced expression of CAPI and CAP2 is required in the skin, but also in the placenta. Imbalanced expression of CAPI and CAP2 leads to impaired EMT-associated signalling. We have studied whether CAPI is implicated in the pathogenesis and susceptibility to chronic colitis, and we demonstrated the protective role of CAPI in distal colon. -- Les protéases activatrices de canal (CAP) sont des protéases à serine attachées à la membrane qui ont été identifiées comme activateurs in vitro du canal sodique épithélial (ENaC). Deux de ces protéases sont principalement étudiées dans le laboratoire. CAP1/Prss8 a été identifié préalablement comme impliqué dans l'homéostasie du sodium in vivo au niveau du côlon. Dans la première partie de cette thèse, nous avons généré et caractérisé des souris déficientes pour CAP2/Tmprss4. Les souris sont en bonne santé et viables, et elles ne présentent pas de phénotype visible. Nous avons étudié l'activité et l'expression d'ENaC sous diète normale et déficiente en sodium, et nous avons démontré que CAP2 n'est pas un régulateur essentiel de l'homéostasie sodique in vivo. Nous avons ensuite étudié si CAP2 est impliqué dans l'homéostasie du potassium. Nous avons détecté une forte dépendance du sexe lorsque les souris knock-out pour CAP2 étaient placées sous diète déficiente en potassium. Nous avons démontré dans les souris mâles une implication de CAP2 dans la régulation de la H+, K+- ATPase colonique, des récepteurs membranaires à la progestérone et de leur partenaires de liaison, ainsi que dans la possible signalisation médiée par le clivage du récepteur aux glucocorticoïdes. Nous avons étudié l'interaction possible entre CAPI et CAP2 en générant et en caractérisant deux groupes d'étude de souris différents, porteurs de différentes mutations hypomorphiques dans le gène de CAPI, et déficients pour CAP2. Nous avons pu montrer qu'une expression équilibrée de CAPI et CAP2 est requise pour le maintien de l'intégrité de la peau et pour le développement normal du placenta. Les embryons knock-out pour CAPI meurent suite à une défaillance placentaire, et la délétion additionnelle et combinée de CAP2 permet la survie jusqu'à la naissance. Nous supposons que CAPI et CAP2 sont impliqués dans la même voie de signalisation au niveau du placenta que celle proposée dans les études de cancer, impliquant l'intégrine a5, ERK, AKT, E- et N-cadhérine. De plus, nous avons étudié si CAPI est impliqué dans la pathogenèse et la susceptibilité de colite chronique expérimentale dans un modèle de rat mutant. En administrant aux rats mutants pour CAPI du Dextran sodium sulfate, nous avons induit une inflammation chronique du côlon, et nous avons pu mettre en évidence le rôle protecteur de CAPI au niveau histopathologique et au niveau clinique. En conclusion, nous avons démontré que CAP2 n'est pas un régulateur essentiel de l'homéostasie sodique médiée par ENaC in vivo, mais plutôt de l'homéostasie potassique d'une manière dépendante du sexe et impliquant la H+, K+-ATPase colonique, les récepteurs membranaires à la progestérone et le récepteur aux glucocorticoïdes. Nous avons étudié si CAPI et CAP2 interagissent au niveau fonctionnel, et nous avons montré qu'une expression équilibrée entre CAPI et CAP2 est requise dans la peau et le placenta. L'expression déséquilibrée de CAPI et CAP2 mène à une altération de la signalisation associée à l'EMT. Nous avons étudié si CAPI est impliqué dans la pathogenèse et la susceptibilité de colite chronique expérimentale, et nous avons démontré le rôle protecteur de CAPI dans le côlon distal.

Pathological video game use among young Swiss men: the use of monothetic and polythetic formats to distinguish between pathological, excessive and normal gaming

There is no agreement about the distinction between pathological, excessive and normal gaming. The present study compared two classifications for defining pathological gaming: the polythetic format (gamers who met at least half of the criteria) and monothetic format (gamers who met all criteria). Associations with mental, health and social issues were examined to assess differences between subgroups of gamers. A representative sample of 5,663 young Swiss men filled in a questionnaire as part of the ongoing Cohort Study on Substance Use Risk Factors (C-SURF). Game use was assessed with the Game Addiction Scale. Mental, social and physical factors (depression, anxiety, aggressiveness, physical and mental health, social and health consequences), gambling and substance use (illicit drug use, alcohol dependence and problematic cannabis use) were also assessed. The results indicated that monothetic gamers shared problems with polythetic gamers, but were even more inclined to mental health issues (depression, anxiety, and aggressiveness) and were more vulnerable to other dependencies like substance use, alcohol dependence or gambling. A second analysis using Latent Class Analysis confirmed the distinction between monothetic and polythetic gamers. These findings support the use of a monothetic format to diagnose pathological gaming and to differentiate it from excessive gaming.

Estudo dos ventrículos cerebrais por ultrassonografia, na criança normal, nascida a termo, de 1 a 6 meses

OBJETIVO: Estudo dos ventrículos cerebrais por ultrassonografia, com o objetivo de estabelecer de forma simplificada parâmetros para diagnóstico das dilatações ventriculares leves. MATERIAIS E MÉTODOS: Foram estudadas, prospectivamente, 105 crianças, normais, nascidas a termo, com um total de 181 exames realizados, mensalmente até os 6 meses, através da observação de dados morfológicos e medidas. As medidas efetuadas foram: índice ventrículo/hemisfério, diâmetro anteroposterior do corno anterior e do quarto ventrículo. RESULTADOS: Obtiveram-se média, desviopadrão e percentis de normalidade das medidas estabelecidas, em cada faixa etária. A pesquisa de halo anecoico nos dois terços posteriores do plexo coroide em plano coronal VI, para avaliação dos cornos temporal/posterior, foi ausente, e o terceiro ventrículo mostrou-se como uma fenda anecoica, menor que 1 mm, em plano coronal V em todas as crianças do estudo. CONCLUSÃO: Os achados morfológicos relacionados aos cornos temporal/posterior e ao terceiro ventrículo, associados ao percentil 95 das medidas como limite superior da normalidade, podem ser utilizados para diagnóstico simplificado de dilatações ventriculares leves.

Brain Connections Associated With Socio-Cognitive Skills in Preterm and Low Birth Weight School Age Children

Identification of neuroimaging biomarkers following extreme prematurity (EP) and intrauterine growth restriction (IUGR) is crucial for understanding their cognitive and behavioral impairments at school age