bluuebunny/crossref_metadata_2025_split huggingface dataset:
Distrofia muscular congénita: reporte de caso y revisión de la literatura
Authors: Acosta Guío Johanna , Zarante Montoya Ignacio 
Published: January 2020

Las distrofias musculares congénitas son entidades con herencia autosómica recesiva. Se clasifican en las que comprometen el sistema nervioso central y las que no lo hacen (forma clásica). Este último grupo se subdivide en distrofias sin déficit de merosina y con déficit de merosina.Se reporta el caso de un paciente con hipotonía grave, contracturas articulares y compromiso de la sustancia blanca del sistema nervioso central. Se considera el diagnóstico de distrofia muscular congénita con posible déficit de merosina.
Proyección de costos en Colombia de la atención inicial del síndrome coronario agudo
Authors: Castellanos Ramírez Julio César 
Published: January 2020

Se realizó un estudio retrospectivo de costo de la atención inicial de los casos de síndrome coronario agudo en el Hospital Universitario San Ignacio de la ciudad de Bogotá, en el periodo comprendido entre enero y octubre de 2010.Objetivo: Realizar una estimación del costo médico promedio y total que significa para Colombia la primera atención de estos eventos agudos.Métodos: Se estudiaron 213 pacientes que se confirmaron como SCA con un promedio de estancia de 7 días, con una máxima de 55 días y mínima de 1 día.Resultados: Se encontró costo global promedio general $ 7.781.230 pesos, medicamentos $ 1.948.366 pesos y antiagregantes $ 103.572. Tomando como referencia los casos esperados de SCA para un año según el ajuste por mortalidad se estima un costo médico anual proyectado esperado o proyectado para Colombia. (Tasa de cambio utilizada $ 1.850 pesos por dólar) US$ 228.886.152,00 y Bogotá US$ 42.325.685.Conclusión: El costo de la atención del SCA agudo en Colombia tiene una posición media en los referentes utilizados, no obstante lo presentado se estima que significa al año un costo médico importante de cerca de un cuarto de billón de dólares para el país y de más de cuarenta millones de dólares para Bogotá. Finalmente este trabajo sólo constituye un abordaje inicial que presenta datos que servirán de referencia a otras instituciones para elaborar sus propios estudios y hacer los seguimientos al respecto.
Pruebas no condicionadas en ratones para evaluar la actividad ansiolítica de sustancias extraídas de plantas
Authors: Rejón-Orantes José Del Carmen , Placer Perdomo Diana , Roldán Gabriel 
Published: January 2020

En el último año, el Laboratorio Experimental de Farmacobiología de la Facultad de Medicina de la Universidad Autónoma de Chiapas (UNACH), ha venido sistematizando pruebas no condicionadas para el estudio de la ansiedad en modelos animales. En este trabajo se efectúa una revisión bibliográfica que actualiza el conocimiento sobre las pruebas útiles en la evaluación de la ansiedad. Estas pruebas las utilizamos en los trabajos de investigación de extractos vegetales con base en hallazgos etnobotánicos de la medicina tradicional chiapaneca, los cuales se han desarrollado con modestos recursos financieros de la Facultad de Medicina de la Universidad y autofinanciamiento por parte de los investigadores, considerando la generación de conocimiento y la posibilidad de ampliar las expectativas terapéuticas con recursos naturales, como el insumo de mayor valor.Además, es de interés para el equipo investigador vincular en este proceso a investigadores de otras universidades e instituciones de salud que estén estudiando compuestos extraídos de plantas y que sirvan como base en la obtención de fármacos no sintéticos para tratamiento de la ansiedad en el hombre.
Reproducibilidad del posicionamiento de pacientes en tratamiento con radioterapia del Centro Javeriano de Oncología
Authors: Sánchez Ricardo A. , González Andrea , Rocha Andrea 
Published: January 2020

Introducción. Se encuentran incertidumbres por posicionamiento en los pacientes durante el tratamiento de radioterapia. Este estudio se realizó con la finalidad de mostrar la experiencia en nuestro centro.Métodos. Se analizaron 316 pacientes en el periodo comprendido entre el 17 de marzo y el 18 de junio de 2010, y se compararon las radiografías digitales reconstruidas, Digitally Reconstructed Radiograph, DRR) con las radiológicas, en película radiográfica o imagen digital, y se hicieron las correcciones correspondientes en los tres ejes. Resultados. Se registraron 809 imágenes en los 316 pacientes, la mayoría de cáncer de próstata. En 91% de los casos, las imágenes obtenidas no requirieron correcciones por posicionamiento durante el tratamiento. El promedio de correcciones en los tres ejes (X, Y y Z) fue de 3,4 mm. Sin embargo, se presentaron correcciones de 5 mm o más en pacientes con obesidad.Conclusión. En este estudio se encontró una adecuada reproducibilidad en nuestros pacientes durante el tratamiento, con incertidumbres de posicionamiento similares a las reportadas en la literatura. La mayoría se presentó en pacientes tratados por cáncer de próstata. Debe prestarse especial atención en los pacientes obesos o muy delgados, los cuales posiblemente requieren una mejor técnica de inmovilización.
Estudio del polimorfismo MTHFR C677T en recién nacidos con cardiopatías congénitas aisladas, en una población colombiana
Authors: García-Robles Reggie , Ayala-Ramírez Paola Andrea , Villegas Victoria Eugenia , Salazar Marleny , Bernal Jaime , Núñez Federico , Caicedo Víctor , Pachón Sonia , Ramírez Sandra , Bermúdez Martha 
Published: January 2020

Introducción: El estudio del papel de polimorfismos en genes de las vías metabólicas de la homocisteína-metionina y el ácido fólico en anomalías congénitas, es cada vez más importante debido a que sus efectos podrían ser modulados.Objetivo: Determinar si la presencia del polimorfismo C677T en el gen de la metilentetrahidrofolato reductasa (MTHFR) se asocia con el desarrollo de cardiopatías congénitas aisladas.Métodos: Se compararon las frecuencias alélicas y genotípicas del polimorfismo en 34 recién nacidos con cardiopatías congénitas aisladas y en 102 individuos sanos. La genotipificación se hizo mediante la reacción en cadena de la polimerasa (PCR) y se determinó el genotipo por medio de la técnica de polimorfismo de longitud de los fragmentos de restricción (RFLP).Resultados: No se encontraron diferencias estadísticamente significativas en las frecuencias alélicas ni genotípicas entre los grupos de casos y controles. Sin embargo, se observó una tendencia estadística para un posible efecto protector del genotipo TT.
Teratomas congénitos en el Hospital Universitario San Ignacio, serie de casos
Authors: Olaya M. , Gamboa J. , Espinosa L. , Escalante P. , Uribe A.Pontificia Universidad Javeriana M. 
Published: January 2020

Los tumores en niños tienen menor incidencia que en los adultos. Los tumores en fetos y en recién nacidos son aún más raros. Se reporta una serie de tres tumores germinales, uno en un recién nacido vivo, uno en un feto mortinato y el tercero presente en las membranas ovulares. Se revisa la información disponible sobre los tumores en este grupo de edad.
Heredity of type 2 diabetes confers increased susceptibility to oxidative stress and inflammation
Authors: Baig Sonia , Shabeer Muhammad , Parvaresh Rizi Ehsan , Agarwal Madhur , Lee Michelle H , Ooi Delicia Shu Qin , Chia Chelsea , Aung Nweni , Ng Geelyn , Teo Yvonne , Chhay Vanna , Magkos Faidon , Vidal-Puig Antonio , Seet Raymond C S , Toh Sue-Anne 
Published: January 2020

Introduction and objectiveHeredity of type 2 diabetes mellitus (T2DM) is associated with greater risk for developing T2DM. Thus, individuals who have a first-degree relative with T2DM (FDRT) provide a natural model to study factors of susceptibility towards development of T2DM, which are poorly understood. Emerging key players in T2DM pathophysiology such as adverse oxidative stress and inflammatory responses could be among possible mechanisms that predispose FDRTs to develop T2DM. Here, we aimed to examine the role of oxidative stress and inflammatory responses as mediators of this excess risk by studying dynamic postprandial responses in FDRTs.Research design and methodsIn this open-label case-control study, we recruited normoglycemic men with (n=9) or without (n=9) a family history of T2DM. We assessed plasma glucose, insulin, lipid profile, cytokines and F2-isoprostanes, expression levels of oxidative and inflammatory genes/proteins in circulating mononuclear cells (MNC), myotubes and adipocytes at baseline (fasting state), and after consumption of a carbohydrate-rich liquid meal or insulin stimulation.ResultsPostprandial glucose and insulin responses were not different between groups. Expression of oxidant transcription factor NRF2 protein (p<0.05 for myotubes) and gene (pgroup=0.002, ptime×group=0.016), along with its target genes TXNRD1 (pgroup=0.004, ptime×group=0.007), GPX3 (pgroup=0.011, ptime×group=0.019) and SOD-1 (pgroup=0.046 and ptime×group=0.191) was upregulated in FDRT-derived MNC after meal ingestion or insulin stimulation. Synergistically, expression of target genes of inflammatory transcription factor nuclear factor kappa B such as tumor necrosis factor alpha (pgroup=0.001, ptime×group=0.007) was greater in FDRT-derived MNC than in non-FDRT-derived MNC after meal ingestion or insulin stimulation.ConclusionsOur findings shed light on how heredity of T2DM confers increased susceptibility to oxidative stress and inflammation. This could provide early insights into the underlying mechanisms and future risk of FDRTs for developing T2DM and its associated complications.
Socioeconomic status, remoteness and tracking of nutritional status from childhood to adulthood in an Australian Aboriginal Birth Cohort: the ABC study
Authors: Sjöholm Pauline , Pahkala Katja , Davison Belinda , Juonala Markus , Singh Gurmeet 
Published: January 2020

ObjectivesTo determine prevalences of underweight and overweight as well as low and high waist-to-height ratio (WHtR) in three prospective follow-ups and to explore tracking of these measures of nutritional status from childhood to adolescence and adulthood. The influence of socioeconomic status, remoteness, maternal body mass index (BMI) and birth weight on weight status was assessed.DesignLongitudinal birth cohort study of Indigenous Australians.SettingData derived from three follow-ups of the Aboriginal Birth Cohort study with mean ages of 11.4, 18.2 and 25.4 years for the participants.ParticipantsOf the 686 Indigenous babies recruited to the study between 1987 and 1990, 315 had anthropometric measurements for all three follow-ups and were included in this study.Primary and secondary outcome measuresBMI categories (underweight, normal weight, overweight and obesity),WHtR categories (low and high), sex, areal socioeconomic disadvantage as defined by the Indigenous Relative Socioeconomic Outcomes index, urban/remote residence, maternal BMI and birth weight. Logistic regression was used to calculate ORs for belonging to a certain BMI category in adolescence and adulthood according to BMI category in childhood and adolescence.ResultsUnderweight was common (38% in childhood and 24% in adulthood) and the prevalence of overweight/obesity increased with age (12% in childhood and 35% in adulthood). Both extremes of weight status as well as low and high WHtR tracked from childhood to adulthood. Underweight was more common and overweight was less common in remote and more disadvantaged areas. Birth weight and maternal BMI were associated with later weight status. There were significant sex differences for prevalences and tracking of WHtR but not for BMI.ConclusionsSocioeconomic factors, remoteness and gender must be addressed when assessing nutrition-related issues in the Indigenous communities due to the variation in nutritional status and its behaviour over time within the Indigenous population.
Genetic landscape of prostate cancer conspicuity on multiparametric MRI: a protocol for a systematic review and bioinformatic analysis
Authors: Norris Joseph M , Simpson Benjamin S , Parry Marina A , Allen Clare , Ball Rhys , Freeman Alex , Kelly Daniel , Kirkham Alex , Kasivisvanathan Veeru , Whitaker Hayley C , Emberton Mark 
Published: January 2020

IntroductionThe introduction of multiparametric MRI (mpMRI) has enabled enhanced risk stratification for men at risk of prostate cancer, through accurate prebiopsy identification of clinically significant disease. However, approximately 10%–20% of significant prostate cancer may be missed on mpMRI. It appears that the genomic basis of lesion visibility or invisibility on mpMRI may have key implications for prognosis and treatment. Here, we describe a protocol for the first systematic review and novel bioinformatic analysis of the genomic basis of prostate cancer conspicuity on mpMRI.Methods and analysisA systematic search of MEDLINE, PubMed, EMBASE and Cochrane databases will be conducted. Screening, data extraction, statistical analysis and reporting will be performed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Included papers will be full text articles, written between January 1980 and December 2019, comparing molecular characteristics of mpMRI-visible lesions and mpMRI-invisible lesions at the DNA, DNA-methylation, RNA or protein level. Study bias and quality will be assessed using a modified Newcastle-Ottawa score. Additionally, we will conduct a novel bioinformatic analysis of supplementary material and publicly available data, to combine transcriptomic data and reveal common pathways highlighted across studies. To ensure methodological rigour, this protocol is written in accordance with the PRISMA Protocol 2015 checklist.Ethics and disseminationEthical approval will not be required, as this is an academic review of published literature. Findings will be disseminated through publications in peer-reviewed journals, and presentations at national and international conferences.PROSPERO registration numberCRD42019147423.
TGF-β2 silencing to target biliary-derived liver diseases
Authors: Dropmann Anne , Dooley Steven , Dewidar Bedair , Hammad Seddik , Dediulia Tatjana , Werle Julia , Hartwig Vanessa , Ghafoory Shahrouz , Woelfl Stefan , Korhonen Hanna , Janicot Michel , Wosikowski Katja , Itzel Timo , Teufel Andreas , Schuppan Detlef , Stojanovic Ana , Cerwenka Adelheid , Nittka Stefanie , Piiper Albrecht , Gaiser Timo , Beraza Naiara , Milkiewicz Malgorzata , Milkiewicz Piotr , Brain John G , Jones David E J , Weiss Thomas S , Zanger Ulrich M , Ebert Matthias , Meindl-Beinker Nadja M 
Published: January 2020

ObjectiveTGF-β2 (TGF-β, transforming growth factor beta), the less-investigated sibling of TGF-β1, is deregulated in rodent and human liver diseases. Former data from bile duct ligated and MDR2 knockout (KO) mouse models for human cholestatic liver disease suggested an involvement of TGF-β2 in biliary-derived liver diseases.DesignAs we also found upregulatedTGFB2in liver tissue of patients with primary sclerosing cholangitis (PSC) and primary biliary cholangitis (PBC), we now fathomed the positive prospects of targeting TGF-β2 in early stage biliary liver disease using the MDR2-KO mice. Specifically, the influence ofTgfB2silencing on the fibrotic and inflammatory niche was analysed on molecular, cellular and tissue levels.ResultsTgfB2-induced expression of fibrotic genes in cholangiocytes and hepatic stellate cellswas detected.TgfB2expression in MDR2-KO mice was blunted usingTgfB2-directed antisense oligonucleotides (AON). Upon AON treatment, reduced collagen deposition, hydroxyproline content and αSMA expression as well as inducedPparGexpression reflected a significant reduction of fibrogenesis without adverse effects on healthy livers. Expression analyses of fibrotic and inflammatory genes revealed AON-specific regulatory effects onCcl3,Ccl4,Ccl5,Mki67andNotch3expression. Further, AON treatment of MDR2-KO mice increased tissue infiltration by F4/80-positive cells including eosinophils, whereas the number of CD45-positive inflammatory cells decreased. In line,TGFB2and CD45 expression correlated positively in PSC/PBC patients and localised in similar areas of the diseased liver tissue.ConclusionsTaken together, our data suggest a new mechanistic explanation for amelioration of fibrogenesis by TGF-β2 silencing and provide a direct rationale for TGF-β2-directed drug development.
Psychological distress and mortality among US adults: prospective cohort study of 330 367 individuals
Authors: Yang Lili , Zhao Min , Magnussen Costan G , Veeranki Sreenivas P , Xi Bo 
Published: January 2020

BackgroundPrevious studies have shown inconsistent findings on the association between psychological distress and risk of mortality. This study aimed to address this inconsistent association using a large US population-based cohort.MethodsThis study used data from 1997 to 2009 US National Health Interview Survey, which were linked with National Death Index through 31 December 2011. Psychological distress was measured using Kessler-6 scale and was categorised into six groups based on scores as 0, 1–3, 4–6, 7–9, 10–12 and ≥13. Main outcomes were all-cause, cancer-specific and cardiovascular disease (CVD)-specific mortality. Analyses were completed in 2019. Cox proportional hazards models were used to determine the association between psychological distress and mortality.ResultsA total of 330 367 participants aged ≥18 years were included. During a mean follow-up of 8.2 years, 34 074 deaths occurred, including 8320 cancer-related and 8762 CVD-related deaths. There was a dose–response association between psychological distress and all-cause mortality. Compared with the 0 score category, adjusted HRs (95% CIs) for other categorical psychological distress scores, that is, 1–3, 4–6, 7–9, 10–12 and ≥13, were 1.09 (1.05 to 1.12), 1.22 (1.17 to 1.27), 1.38 (1.31 to 1.46), 1.49 (1.40 to 1.59) and 1.57 (1.47 to 1.68), respectively. Corresponding values for cancer-specific mortality were 1.06 (0.99 to 1.12), 1.13 (1.04 to 1.23), 1.27 (1.14 to 1.42), 1.38 (1.22 to 1.57) and 1.32 (1.15 to 1.51), respectively; those for CVD-specific mortality were 1.11 (1.05 to 1.18), 1.22 (1.12 to 1.32), 1.30 (1.17 to 1.45), 1.38 (1.20 to 1.58), and 1.46 (1.27 to 1.68), respectively.ConclusionsWe found a dose–response relationship between psychological distress and all-cause and cause-specific mortality, emphasising the need for early prevention strategies among individuals with potential psychological distress.
Assessing the sensitivity to change of the OMERACT ultrasound structural gout lesions during urate-lowering therapy
Authors: Christiansen Sara Nysom , Østergaard Mikkel , Slot Ole , Keen Helen , Bruyn George A W , D'Agostino Maria Antonietta , Terslev Lene 
Published: January 2020

ObjectivesTo evaluate the sensitivity to change of ultrasound structural gout lesions, as defined by the Outcome Measures in Rheumatology (OMERACT) ultrasound group, in patients with gout during urate-lowering therapy (ULT).MethodsUltrasound (28 joints, 26 tendons) was performed in patients with microscopically verified gout initiating or increasing ULT and repeated after 3 and 6 months. Joints and tendons were evaluated by ultrasound for presence of the OMERACT structural gout lesions—double contour sign (DC), tophus, aggregates and erosion—scored binarily. A sum score was calculated at patient and lesion level. Changes at 3 and 6 months in patient sum scores and lesion scores at different locations were evaluated.Results50 patients (48 men), mean age 68.9 (range, 30–88) years, were included. Ultrasound showed a statistically significant decrease in DC and tophus sum scores from 0 months (3.16 and 2.68, respectively) to 3 months (2.33 and 2.43) and 6 months (1.34 and 1.83) (all p<0.002). The aggregate sum score only decreased significantly from 3 to 6 months (6.02 to 5.02, p=0.002), whereas erosion sum score remained almost unchanged. All four structural lesions were most commonly found in metatarsophalangeal (MTP) 1 joints (>1 lesions bilaterally), and furthermore MTP2–4 and knee joints were common sites especially for DC. Likewise, these regions were the locations with most pronounced changes in scores.ConclusionUltrasound assessment of the OMERACT structural gout lesions scored binarily seems to be a useful tool for monitoring urate depositions during ULT. Particularly DC and tophus showed sensitivity to change after only 3 months of treatment.
Letter from SIGecom executive committee
Authors: Immorlica Nicole , Kominers Scott Duke , Ligett Katrina 
Published: January 2020

Dear SIGecom community,
We, the new SIGecom executives, are honored to be serving as your representatives. First, we'd like to heap praise and thanks on the outgoing executives --- Kevin Leyton-Brown, Michal Feldman, and Jenn Wortman Vaughan --- for their boundless energy, engagement, and wisdom in their four years of leadership. We have a lot to live up to.
Machine Learning Approach to Identify Stroke Within 4.5 Hours
Authors: Lee Hyunna , Lee Eun-Jae , Ham Sungwon , Lee Han-Bin , Lee Ji Sung , Kwon Sun U. , Kim Jong S. , Kim Namkug , Kang Dong-Wha 
Published: January 2020

Background and Purpose—
We aimed to investigate the ability of machine learning (ML) techniques analyzing diffusion-weighted imaging (DWI) and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging to identify patients within the recommended time window for thrombolysis.

Methods—
We analyzed DWI and FLAIR images of consecutive patients with acute ischemic stroke within 24 hours of clear symptom onset by applying automatic image processing approaches. These processes included infarct segmentation, DWI, and FLAIR imaging registration and image feature extraction. A total of 89 vector features from each image sequence were captured and used in the ML. Three ML models were developed to estimate stroke onset time for binary classification (≤4.5 hours): logistic regression, support vector machine, and random forest. To evaluate the performance of ML models, the sensitivity and specificity for identifying patients within 4.5 hours were compared with the sensitivity and specificity of human readings of DWI-FLAIR mismatch.

Results—

Data from a total of 355 patients were analyzed. DWI-FLAIR mismatch from human readings identified patients within 4.5 hours of symptom onset with 48.5% sensitivity and 91.3% specificity. ML algorithms had significantly greater sensitivities than human readers (75.8% for logistic regression,
P
=0.020; 72.7% for support vector machine,
P
=0.033; 75.8% for random forest,
P
=0.013) in detecting patients within 4.5 hours, but their specificities were comparable (82.6% for logistic regression,
P
=0.157; 82.6% for support vector machine,
P
=0.157; 82.6% for random forest,
P
=0.157).

Conclusions—
ML algorithms using multiple magnetic resonance imaging features were feasible even more sensitive than human readings in identifying patients with stroke within the time window for acute thrombolysis.