2,138 research outputs found

    Can the Holmes-Rahe Social Readjustment Rating Scale (SRRS) Be Used as a Suicide Risk Scale? An Exploratory Study

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    The objective of this research was to examine whether the Holmes-Rahe Social Readjustment Rating Scale, a life event scale, can be used to identify suicide attempters. The Holmes-Rahe Social Readjustment Rating Scale\u27s ability to identify suicide attempters was tested in 1183 subjects (478 suicide attempters, 197 psychiatric inpatients, and 508 healthy controls) using the Fisher Linear Discriminant Analysis and traditional psychometric methods. The Fisher Linear Discriminant Analysis outperformed traditional psychometric approaches (area under the curve: 0.85 vs. 0.78; p \u3c 0.05) and indicated that this scale may be used to identify suicide attempters. The life events that better characterized suicide attempters were change in frequency of arguments, marital separation, and personal injury. The Holmes-Rahe Social Readjustment Rating Scale may help identify suicide attempters

    Insertion (22;9)(q11;q34q21) in a patient with chronic myeloid leukemia characterized by fluorescence in situ hybridization

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    An unusual cytogenetic rearrangement, described as ins(22;9)(q11;q34q21), was detected in a 49-year-old male patient diagnosed with chronic myeloid leukemia (CML). Reverse transcriptase polymerase chain reaction (RT-PCR) revealed a b3a2 fusion transcript. In order to confirm the cytogenetic findings and fully characterize the inverted insertion, we performed fluorescence in situ hybridization (FISH) assays using locus-specific and whole chromosome painting probes. Our FISH analysis showed the presence of the BCR/ABL fusion gene, verified the insertion and determined that the breakpoint on chromosome 22 where the insertion took place was located proximal to the BCR gene and distal to the TUPLE1 gene on 22q11

    Evolución paleoambiental de la mitad sur de la Península Ibérica. Aplicación a la evaluación del comportamiento de los repositorios de residuos radiactivos

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    Esta publicación refleja los resultados obtenidos de la realización de los proyectos "EQUIP: Evidency from Quaternary Infills Palaeohydrogeology" (F 14W/ CT96/0031), financiado por la UE, "Evolución Paleoclimática de [a Mitad Sur de [a Península Ibérica" financiado por ENRESA y "Paleoclima" financiado por el Consejo de Seguridad Nuclear y ENRESA. La cuenca de Guadix-Baza, sector oriental, es una de las escasas zonas europeas donde se ha conservado un registro razonablemente completo del Pleistoceno. La cuenca de Guadix Baza, en régimen continental desde el Plioceno, funcionó bajo un régimen centrípeto, con abanicos aluviales en los bordes y una zona compleja lacustre en mosaico en su centro. Se ha podido establecer la existencia de una amplia variedad de facies aluviales y fluviales y sus interrelaciones. La sedimentación en el margen lacustre estaba constituida por arenas bioclásticas y lutitas con fósiles, mientras que en zonas más centrales predominaron lutitas yesíferas, lutitas con yeso intrasedimentario, arenas yesíferas yesos y, ocasionalmente, carbonatos que durante un período concreto depositaron los materiales que configuran el "Nivel Calcáreo de Orce", calizas y dolomías con cantidades variables de yeso y terrígenos cerca de los bordes. El trabajo de campo permitió el establecimiento de una serie estratigráfica tipo compuesta, que refleja los principales acontecimiento paleoambientales que tuvieron lugar durante el Pleistoceno. Con el fin de evitar la yesificación de la calcita y aragonito, propia del ambiente lacustre, la serie tipo de ha establecido en el registro del margen lacustre. Con ayuda del análisis paleomagnético y el análisis de la racemización de aminoácidos en conchas de moluscos y ostrácodos se ha establecido la cronología numérica de la sección estratigráfica tipo que cubre desde el límite Plioceno-Pleistoceno hasta unos 250 ka BP, cuando la erosión de la cabecera del río Fardes alcanza la cuenca abriéndola hacia el valle del Guadalquivir y cesando [a sedimentación lacustre. También se ha datado un depósito de terraza fluvial. Se han obtenido datos paleoambientales "instantáneos" mediante el estudio palinológico, el análisis paleobotánico de material silicificado (madera opalizada) o carbonizado (análisis paleoantracológico), el análisis geoquímico orgánico de algunos niveles especialmente favorables. La geoquímica orgánica de biomarcadores de algunos niveles concretos proporcionó datos sobre su origen (plantas terrestres o acuáticas) y confirmó que un conspicuo nivel carbonoso tuvo su origen en un incendio forestal. El análisis paleobiológico basado en la distribución de especies de ostrácodos, gasterópodos y pelecípodos ha permitido una primera aproximación paleoambiental, pese al evidente sesgo introducido por la presencia de fuentes salinas y materiales yesíferos en el área fuente de los abanicos aluviales del límite oriental de la cuenca. Esta interpretación se ha depurado mediante el estudio geoquímico inorgánico, isótopos estables y elementos traza de las conchas calcíticas de ostrácodos. Ello ha permitido el establecimiento de una alternancia de períodos "fríos y húmedos" y "cálidos y áridos" que permiten reconocer de las clases climáticas "mediterráneo seco" y "mediterráneo húmedo" sensu Horowitz (1989), que tienen sus correlatos en el registro paleoclimático de los grandes lagos del rift del Mar Muerto, el Mar Caspio y lagos pluviales de Norte América. La correlación de los datos isotópicos con las paleosalinidades deducidas del estudio de las inclusiones fluidas en yeso intrasedimentario ha permitido corroborar estas interpretaciones. Esto plantea un nuevo enfoque en el análisis del comportamiento de los repositorios de residuos radiactivos de alta

    Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder

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    Pathogenic hemizygous or heterozygous mutations in the IQSEC2 gene cause X-linked intellectual developmental disorder-1 (XLID1), characterized by a variable phenotype including developmental delay, intellectual disability, epilepsy, hypotonia, autism, microcephaly and stereotypies. It affects both males and females typically through loss of function in males and haploinsufficiency in heterozygous females. Females are generally less affected than males. Two novel unrelated cases, one male and one female, with de novo IQSEC2 variants were detected by trio-based whole exome sequencing. The female case had a previously undescribed frameshift mutation (NM_001111125:c.3300dup; p.Met1101Tyrfs*5), and the male showed an intronic variant in intron 6, with a previously unknown effect (NM_001111125:c.2459+21C>T). IQSEC2 gene expression study revealed that this intronic variant created an alternative donor splicing site and an aberrant product, with the inclusion of 19bp, confirming the pathogenic effect of the intron variant. Moreover, a strong reduction in the expression of the long, but also the short IQSEC2 isoforms, was detected in the male correlating with a more severe phenotype, while the female case showed no decreased expression of the short isoform, and milder effects of the disease. This suggests that the abnormal expression levels of the different IQSEC2 transcripts could be implicated in the severity of disease manifestations.This research was funded by INSTITUTO DE SALUD CARLOS III, institutional project Spain UDP and grant PT20CIII/00009.S

    Peripheral and central arterial pressure and its relationship to vascular target organ damage in carotid artery, retina and arterial stiffness. Development and validation of a tool. The Vaso risk study

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    <p>Abstract</p> <p>Background</p> <p>Ambulatory blood pressure monitoring (ABPM) shows a better correlation to target organ damage and cardiovascular morbidity-mortality than office blood pressure. A loss of arterial elasticity and an increase in carotid artery intima-media thickness (IMT) has been associated with increased cardiovascular morbidity-mortality. Tools have been developed that allow estimation of the retinal arteriovenous index but not all studies coincide and there are contradictory results in relation to the evolution of the arteriosclerotic lesions and the caliber of the retinal vessels. The purpose of this study is to analyze the relationship between peripheral and central arterial pressure (clinic and ambulatory) and vascular structure and function as evaluated by the carotid artery intima-media thickness, retina arteriovenous index, pulse wave velocity (PWV) and ankle-brachial index in patients with and without type 2 diabetes. In turn, software is developed and validated for measuring retinal vessel thickness and automatically estimating the arteriovenous index.</p> <p>Methods/Design</p> <p>A cross-sectional study involving a control group will be made, with a posterior 4-year follow-up period in primary care. The study patients will be type 2 diabetics, with a control group of non-diabetic individuals. Consecutive sampling will be used to include 300 patients between 34-75 years of age and no previous cardiovascular disease, one-half being assigned to each group. Main measurements: age, gender, height, weight and abdominal circumference. Lipids, creatinine, microalbuminuria, blood glucose, HbA1c, blood insulin, high sensitivity C-reactive protein and endothelial dysfunction markers. Clinic and ambulatory blood pressure monitoring. Carotid ultrasound to evaluate IMT, and retinography to evaluate the arteriovenous index. ECG to assess left ventricle hypertrophy, ankle-brachial index, and pulse wave analysis (PWA) and pulse wave velocity (PWV) with the Sphigmocor System.</p> <p>Discussion</p> <p>We hope to obtain information on the correlation of different ABPM-derived parameters and PWA to organ target damage - particularly vascular structure and function evaluated from the IMT and PWV - and endothelial dysfunction in patients with and without type 2 diabetes. We also hope to demonstrate the usefulness of the instrument developed for the automated evaluation of retinal vascularization in the early detection of alterations in vascular structure and function and in the prognosis of middle-term cardiovascular morbidity.</p> <p>Trial Registration</p> <p>Clinical Trials.gov Identifier: <a href="http://www.clinicaltrials.gov/ct2/show/NCT01325064">NCT01325064</a></p

    Multi-parametric MR Imaging Biomarkers Associated to Clinical Outcomes in Gliomas: A Systematic Review

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    [EN] Purpose: To systematically review evidence regarding the association of multi-parametric biomarkers with clinical outcomes and their capacity to explain relevant subcompartments of gliomas. Materials and Methods: Scopus database was searched for original journal papers from January 1st, 2007 to February 20th , 2017 according to PRISMA. Four hundred forty-nine abstracts of papers were reviewed and scored independently by two out of six authors. Based on those papers we analyzed associations between biomarkers, subcompartments within the tumor lesion, and clinical outcomes. From all the articles analyzed, the twenty-seven papers with the highest scores were highlighted to represent the evidence about MR imaging biomarkers associated with clinical outcomes. Similarly, eighteen studies defining subcompartments within the tumor region were also highlighted to represent the evidence of MR imaging biomarkers. Their reports were critically appraised according to the QUADAS-2 criteria. Results: It has been demonstrated that multi-parametric biomarkers are prepared for surrogating diagnosis, grading, segmentation, overall survival, progression-free survival, recurrence, molecular profiling and response to treatment in gliomas. Quantifications and radiomics features obtained from morphological exams (T1, T2, FLAIR, T1c), PWI (including DSC and DCE), diffusion (DWI, DTI) and chemical shift imaging (CSI) are the preferred MR biomarkers associated to clinical outcomes. Subcompartments relative to the peritumoral region, invasion, infiltration, proliferation, mass effect and pseudo flush, relapse compartments, gross tumor volumes, and high-risk regions have been defined to characterize the heterogeneity. For the majority of pairwise cooccurrences, we found no evidence to assert that observed co-occurrences were significantly different from their expected co-occurrences (Binomial test with False Discovery Rate correction, alpha=0.05). The co-occurrence among terms in the studied papers was found to be driven by their individual prevalence and trends in the literature. Conclusion: Combinations of MR imaging biomarkers from morphological, PWI, DWI and CSI exams have demonstrated their capability to predict clinical outcomes in different management moments of gliomas. Whereas morphologic-derived compartments have been mostly studied during the last ten years, new multi-parametric MRI approaches have also been proposed to discover specific subcompartments of the tumors. MR biomarkers from those subcompartments show the local behavior within the heterogeneous tumor and may quantify the prognosis and response to treatment of gliomas.This work was supported by the Spanish Ministry for Investigation, Development and Innovation project with identification number DPI2016-80054-R.Oltra-Sastre, M.; Fuster García, E.; Juan -Albarracín, J.; Sáez Silvestre, C.; Perez-Girbes, A.; Sanz-Requena, R.; Revert-Ventura, A.... (2019). Multi-parametric MR Imaging Biomarkers Associated to Clinical Outcomes in Gliomas: A Systematic Review. Current Medical Imaging Reviews. 15(10):933-947. https://doi.org/10.2174/1573405615666190109100503S9339471510Louis D.N.; Perry A.; Reifenberger G.; The 2016 world health organization classification of tumors of the central nervous system: a summary. 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Radiology 2011,259(2),540-549Xintao H.; Wong K.K.; Young G.S.; Guo L.; Wong S.T.; Support vector machine multi-parametric MRI identification of pseudoprogression from tumor recurrence in patients with resected glioblastoma. J Magn Reson Imaging 2011,33(2),296Ingrisch M.; Schneider M.J.; Nörenberg D.; Radiomic Analysis reveals prognostic information in T1-weighted baseline magnetic resonance imaging in patients with glioblastoma. Invest Radiol 2017,52(6),360-366Ulyte A.; Katsaros V.K.; Liouta E.; Prognostic value of preoperative dynamic contrast-enhanced MRI perfusion parameters for high-grade glioma patients. Neuroradiology 2016,58(12),1197-1208O’Neill A.F.; Qin L.; Wen P.Y.; de Groot J.F.; Van den Abbeele A.D.; Yap J.T.; Demonstration of DCE-MRI as an early pharmacodynamic biomarker of response to VEGF Trap in glioblastoma. 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    Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci

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    Genome-wide association studies (GWAS) have found few common variants that influence fasting measures of insulin sensitivity. We hypothesized that a GWAS of an integrated assessment of fasting and dynamic measures of insulin sensitivity would detect novel common variants. We performed a GWAS of the modified Stumvoll Insulin Sensitivity Index (ISI) within the Meta-Analyses of Glucose and Insulin-Related Traits Consortium. Discovery for genetic association was performed in 16,753 individuals, and replication was attempted for the 23 most significant novel loci in 13,354 independent individuals. Association with ISI was tested in models adjusted for age, sex, and BMI and in a model analyzing the combined influence of the genotype effect adjusted for BMI and the interaction effect between the genotype and BMI on ISI (model 3). In model 3, three variants reached genome-wide significance: Rs13422522 (NYAP2; P = 8.87 × 10-11), rs12454712 (BCL2; P = 2.7 × 10-8), and rs10506418 (FAM19A2; P = 1.9 × 10-8). The association at NYAP2 was eliminated by conditioning on the known IRS1 insulin sensitivity locus; the BCL2 and FAM19A2 associations were independent of known cardiometabolic loci. In conclusion, we identified two novel loci and replicated known variants associated with insulin sensitivity. Further studies are needed to clarify the causal variant and function at the BCL2 and FAM19A2 loci

    May Measurement Month 2018: a pragmatic global screening campaign to raise awareness of blood pressure by the International Society of Hypertension

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    Aims Raised blood pressure (BP) is the biggest contributor to mortality and disease burden worldwide and fewer than half of those with hypertension are aware of it. May Measurement Month (MMM) is a global campaign set up in 2017, to raise awareness of high BP and as a pragmatic solution to a lack of formal screening worldwide. The 2018 campaign was expanded, aiming to include more participants and countries. Methods and results Eighty-nine countries participated in MMM 2018. Volunteers (≥18 years) were recruited through opportunistic sampling at a variety of screening sites. Each participant had three BP measurements and completed a questionnaire on demographic, lifestyle, and environmental factors. Hypertension was defined as a systolic BP ≥140 mmHg or diastolic BP ≥90 mmHg, or taking antihypertensive medication. In total, 74.9% of screenees provided three BP readings. Multiple imputation using chained equations was used to impute missing readings. 1 504 963 individuals (mean age 45.3 years; 52.4% female) were screened. After multiple imputation, 502 079 (33.4%) individuals had hypertension, of whom 59.5% were aware of their diagnosis and 55.3% were taking antihypertensive medication. Of those on medication, 60.0% were controlled and of all hypertensives, 33.2% were controlled. We detected 224 285 individuals with untreated hypertension and 111 214 individuals with inadequately treated (systolic BP ≥ 140 mmHg or diastolic BP ≥ 90 mmHg) hypertension. Conclusion May Measurement Month expanded significantly compared with 2017, including more participants in more countries. The campaign identified over 335 000 adults with untreated or inadequately treated hypertension. In the absence of systematic screening programmes, MMM was effective at raising awareness at least among these individuals at risk
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