bluuebunny/crossref_metadata_2025_split huggingface dataset:
A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8
Authors: Apperley Louise , Giri Dinesh , Houghton Jayne A.L. , Flanagan Sarah E. , Didi Mohammed , Senniappan Senthil 
Published: February 2019

Abstract

Background
Congenital hyperinsulinism (CHI) occurs due to an unregulated insulin secretion from the pancreatic β-cells resulting in hypoglycaemia. Causative mutations in multiple genes have been reported. Phenotypic variability exists both within and between different genetic subgroups.

Case presentation
A male infant born at 35+6 weeks’ gestation with a birth weight of 4.3 kg [+3.6 standard deviation score (SDS)] had recurrent hypoglycaemic episodes from birth. Biochemical investigations confirmed a diagnosis of CHI. Diazoxide was started and the dose was progressively increased to maintain euglycaemia. His father was slim and had been diagnosed with type 2 diabetes in his 30s. Sequence analysis identified a heterozygous hepatocyte nuclear factor 4 alpha (HNF4A) mutation (p.Arg245Pro, c.734G>C) and compound heterozygous ABCC8 mutations (p.Gly92Ser, c.274G>A and p.Ala1185Val, c.3554C>T) in the patient. The p.Ala1185Val ABCC8 mutation was inherited from his unaffected mother and the p.Arg245Pro HNF4A and p.Gly92Ser ABCC8 mutations from his father. All three mutations were predicted to be pathogenic. Identification of the HNF4A mutation in the father established a diagnosis of maturity-onset diabetes of the young (MODY), which enabled medication change resulting in improved glycaemic control.

Conclusions
We report a rare patient with CHI due to dual genetic aetiology. Although he is currently responsive to the maximum dose of diazoxide, the long-term prognosis remains unclear.
Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation
Authors: Adachi Masanori , Fukami Maki , Kagami Masayo , Sho Noriko , Yamazaki Yuichiro , Tanaka Yukichi , Asakura Yumi , Hanakawa Junko , Muroya Koji 
Published: February 2019

Abstract

Background
Silver-Russell syndrome (SRS) is characterized by growth retardation and variable features including macrocephaly, body asymmetry, and genital manifestations such as cryptorchidism in 46,XY patients.

Case presentation
The patient was born at 39 weeks with a birth weight of 1344 g. Subtle clitoromegaly warranted a thorough evaluation, which disclosed 46,XY karyotype, bilateral undescended testes, and a rudimentary uterus. Because of severe under-virilization, the patient was assigned as female. Failure to thrive, macrocephaly, and body asymmetry led to the diagnosis of SRS, confirmed by marked hypomethylation of H19/IGF2 intergenic differentially methylated region (IG-DMR). From age 9 years, progressive virilization occurred, which necessitated luteinizing hormone-releasing hormone analog (LHRHa) treatment. Gonadal resection at 15 years revealed immature testes with mostly Sertoli-cell-only tubules. Panel analysis for 46,XY-differences of sex development (DSD) failed to detect any pathogenic variants.

Conclusions
This is the second reported case of molecularly proven 46,XY SRS accompanied by severe under-virilization. SRS should be included in the differential diagnosis of 46,XY-DSD.
Associations between second-trimester amniotic fluid levels of ADAMTS4, ADAMTS5, IL-6, and TNF-α and spontaneous preterm delivery in singleton pregnancies
Authors: Melekoglu Rauf , Yilmaz Ercan , Ciftci Osman , Kafadar Yusuf Taner , Celik Ebru 
Published: February 2019

Abstract

Background
We investigated the roles of inflammatory cytokines and the A disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS) family in the etiopathogenesis of spontaneous preterm delivery by comparing the ADAMTS4, ADAMTS5, interleukin (IL)-6, and tumor necrosis factor-α (TNF-α) levels in second-trimester amniotic fluid between pregnant women with preterm birth and term controls.

Methods
All pregnant women who underwent second-trimester amniocentesis for genetic analysis between January 1, 2016, and January 1, 2018, were enrolled in this study. From this cohort, 22 patients who subsequently experienced spontaneous preterm delivery before 34 weeks of pregnancy formed the study group, and 22 age- and body mass index (BMI)-matched patients without preterm birth constituted the control group.

Results
No significant differences were observed between the preterm birth and control groups in terms of age, BMI, obstetric history of preterm delivery, gestational age at amniocentesis, or indication for amniocentesis. The mean amniotic fluid levels of ADAMTS4 and ADAMTS5 were significantly increased in the preterm birth group compared to the control group (248.3±22.6 and 182.4±19.8 pg/mL, P=0.012; and 198.6±21.6 and 159.1±21.7 pg/mL, P=0.035, respectively). Significantly increased IL-6 and TNF-α levels were also detected in the amniotic fluid of women who experienced spontaneous preterm delivery, relative to controls (142.1±16.2 and 95.8±16.4 pg/mL, P<0.001; and 139.4±12.5 and 89.6±11.2 pg/mL, P<0.001, respectively).

Conclusion
The results of this study imply that increased mid-trimester amniotic fluid levels of ADAMTS4, ADAMTS5, IL-6, and TNF-α play an important role in the pathophysiology of spontaneous preterm delivery.
Más allá de la productividad
Authors: Mendoza-Guerra José María 
Published: February 2019

Como es muy conocido, examinando los dos escalafones más importantes de la competitividad, Colombia se ha ubicado en un período largo de tiempo, en la franja media, de acuerdo con el puesto alcanzado en cada ranking. Además, las tasas de crecimiento del país han dependido más del vaivén de los precios de los commodities que de la orientación de la economía hacia la generación de valor para el mercado. Estos dos factores vienen presentándose en un período largo de tiempo, por lo que se puede decir que el fenómeno de baja competitividad y, por tanto, bajo crecimiento, es un hecho estructural. La sensación que se tiene es que Colombia no ha podido avanzar en la materia.
Como es obvio, esta situación se vuelve común y la población comienza a preocuparse por lo que está pasando: que somos un país regular desde el punto de vista competitivo. Como respuesta, gente de economía y negocios en el país viene planteando la necesidad de elevar la productividad, haciendo eco de voces que han resaltado esta variable como el elemento central en la economía mundial actual. Pero realmente se debe formular la pregunta: ¿Es la productividad suficiente? Esto es ¿si le apostamos a la elevación de la productividad, se puede superar el problema de la competitividad?
İNFORMAL İLETİŞİM KANALLARININ GELİŞİM SÜRECİ VE GRAFİK TASARIM
Authors: YASA Serap 
Published: February 2019

Kitle iletişim
araçlarının hızla yayılması ve her gün milyonlarca mesaj üretilerek, çok geniş
bir hedef kitleye yönelinmesi, hedeflenen bu kitleye en kolay, en hızlı, en
başarılı ulaşımı sağlayacak pek çok iş
alanının doğmasına yol açmıştır. Ancak, hedef durumundaki bireyin, çok sayıda
kanal aracılığıyla sürekli mesaj bombardımanına tutulması sonucu duyarsız hale
gelmesi, hem ticari boyutta hem de insan bilimciler tarafından tehlikeli
bulunmaya başlanmıştır. Ticari şirketler insanı nasıl yeniden kazanır satışları
arttırırız kaygısı ile toplum bilimciler değişen rol ve statü karmaşası içinde
insanın yeni yerini saptayabilmek amacı ile çok boyutlu araştırmalara
girmişlerdir. İnformal iletişim gibi yöntemler çağın gereksinimleri
doğrultusunda ortaya çıkmıştır. Pazarlanan “ürün” sadece ticari meta olmayıp
düşünce, davranış şekli vb. gibi zihinsel boyutlu da olabilmektedir. Tüm bu
ürünlerin tanıtımında kullanılan medyanın seçimi, pazarlamadaki etkin
yöntemler, insanların algılamalarına etki eden psikolojik, fizyolojik faktörlerin
incelenmesi bu araştırmanın temel amacını oluşturmaktadır. Araştırmanın yöntemi belgesel
tarama yöntemidir. İnsan ve iletişim çeşitleri ile pazarlama stratejileri
saptanmış ve sınıflandırılmıştır. Böylece yönlendirme ve direk pazarlama
yöntemlerinde kullanılan grafik tasarım ürünlerinin yeri üzerinde durulmuş ve
bu ürünlerin başarıları ile ulaşılmaya çalışılan hedef kitlenin bağlantısı
üzerinde durulmuştur.
IMPLEMENTASI KURIKULUM 2013 PADA MATA PELAJARAN PENDIDIKAN AGAMA ISLAM BERDASARKAN KMA NOMOR 165 TAHUN 2014 DI MADRASAH
Authors: Mulabbiyah Mulabbiyah 
Published: February 2019

The current research intends to clarify (1) the implementation of the two-thousand-and-thirteen curriculum for Islamic Education at Primary Islamic Schools of Mataram, including three aspects of learning, such as planning, teaching, and assessment, and (2) the obstacles in implementing the curriculum. It is a qualitative research utilizing teacher interviews and document studies as the source of the data. The findings indicate that the subjects had implemented the two-thousand-and-thirteen curriculum at the three aspects of learning, such as teaching plan, teaching implementation dan teaching assessment. However, there are some obstacles faced by the subject, such as lack of understanding abbot the two-thousand-and-thirteen curriculum, too many teacher-administration tasks, teaching time-limit, abnormal of student number, difficulties in implementing scientific approach, lack of facilities to support the learning, abnormal number of assessment instruments to be filled, and difficulties in completing online student report.
Geological and Petrophysical Evaluations of Tayarat Heavy Oil Carbonates in Burgan Field-Kuwait
Authors: Hayat Laila , Al-Qattan Mishari , Al-Jallad Osama , Dernaika Moustafa , Koronfol Safouh , Kayali Anas , Gonzalez David 
Published: February 2019

Abstract
The huge original oil in place (OOIP) of heavy oil within the upper Maastrichtian carbonate succession of Tayarat Formation in Kuwait Burgan field lead to paying more attention to its economic value and the necessity of characterizing it at multi-scales for better commercial utilization. However, its high degree of heterogeneity and complexity as a consequence of depositional and diagenetic factors, the presence of fractures in high frequencies, and existence of heavy oil (10 −15° API) with very high viscosity (80,000 cP) and non-movable bitumen in high quantities make the evaluation process very challenging and difficult. This study is aiming at characterizing these carbonate succession using a robust combination between digital and conventional methods.
One hundred seventy-seven (177) feet of representative whole core intervals were imaged by Dual Energy (DE) X-ray CT imaging technique to assess heterogeneity and identify main porosity regions within each core section for representative sample selection. The selected and extracted samples were characterized geologically and petrophysically using MICP analysis, porosity-permeability measurements, micro XCT images and petrographical analysis in order to identify main sedimentary textures and reservoir rock types (RRT), and then generate texture-based poroperm trends. The generated poroperm trends were combined with the DE derived logs in order to generate high-resolution porosity and permeability logs.
The Dual Energy CT imaging provided bulk density and photoelectric factor data that were critical for the determination of porosity and lithological variation along the core lengths. The petrographical analysis revealed common and distinctive geological textures and RRT's within the main lithological groups of the Tayarat Formation. Unique and distinctive texture-based poroperm trends were generated for each lithological group. The derived porosity and permeability logs showed a very good match with the lab-derived porosity and permeability data.
The integrated digital and conventional data at multiple scales were essential in improving our understanding of Tayarat geological and petrophysical properties.
A One-center Study of Sixteen Patients with Pregnancy-associated Breast Cancer: Clinicopathological Characteristics and Survival
Authors: Bademler Süleyman , Sarı Murat 
Published: February 2019

Aim: Cancer treatment is of special importance during pregnancy, concerning the health of both mother and baby. Treatment of pregnancy-associated breast cancer (PABC) has become even more important today because women tend to delay pregnancy to later ages and because of women who desire to conceive while under treatment for breast cancer. This retrospective study is aimed at investigating the clinical, radiological and histopathological characteristics and PABC treatment outcomes of patients who had long-term follow-up.Materials and Methods: Sixteen women diagnosed with PABC were included in this study. We evaluated the clinicopathological characteristics, gestational history, and survival outcomes of the patients who had been treated and followed up for breast cancer during pregnancy and the first postnatal year at Istanbul University Institute of Oncology in 2010–2017.Results: The median patient age was 32 (21–41) years. The median gestational week of diagnosis in pregnant patients was 26 (11–35) weeks while the mean time elapsed after delivery until diagnosis in postpartum patients was 9.3 (±3.6) months. The median follow-up time was 47.5 (5–99) months. The mean disease-free survival (DFS) and overall survival (OS) were calculated because the median DFS and OS could not be computed. The mean OS and DFS values were 87.8±7.3 and 77.6±8.5 months,respectively.Discussion and Conclusion: Breast cancer in pregnancy is a special health condition that should be treated and followed up by a multidisciplinary team. Primary surgical intervention should not be delayed. While chemotherapy could be administered safely in the first and second trimesters, radiotherapy and targeted and endocrine treatments should be postponed until after delivery. Reporting and long-term follow-up of cases of pregnancy and cancer concurrence is essential for increasing the relevant knowledge.
Metabolism of the Dual Orexin Receptor Antagonist ACT-541468, Based on Microtracer/ Accelerator Mass Spectrometry
Authors: Muehlan Clemens , Fischer Hartmut , Zimmer Dieter , Aissaoui Hamed , Grimont Julien , Boss Christoph , Croft Marie , van Gerven Joop , Krähenbühl Stephan , Dingemanse Jasper 
Published: February 2019

Background:
As part of an integrated and innovative approach to accelerate the clinical development of
the dual receptor antagonist ACT-541468, 6 healthy subjects in one cohort in a first-in-humans (FIH) study received
an oral dose of 50 mg non-labeled ACT-541468 together with a microtracer amount of 250 nCi of 14C-labeled ACT-
541468 to investigate its absorption, distribution, metabolism, and excretion (ADME).

Methods:
Using accelerator mass spectrometry (AMS), radiochromatograms were constructed for fractionated
plasma, urine, and feces samples. Subsequently, the structures of the metabolites were elucidated using high performance
liquid chromatography (HPLC) coupled with high resolution mass spectrometry.

Results:
In total 77 metabolites have been identified of which 30, 28, and 60 were present in plasma, urine, and feces,
respectively. In plasma, the major metabolites were the mono-oxidized benzylic alcohol M3, the ACT-541468
aldehyde M1, formed by further oxidation of M3 in the benzylic position, and the doubly oxidized M10, formed by
(1) benzylic oxidation of M3 (loss of one molecule of water and one molecule of ammonia) and (2) additional loss of
water from the oxidized pyrrolidine ring of M5. Transformation of the pyrrolidine to a 6-membered ring was detected.
Metabolites that accounted for more than 5% of total radioactivity in excreta were M2, which is also formed
by oxidation at the benzylic position, M4, formed by demethylation of the methoxy-group, M7 and A6, both formed
by oxidation of M4, and M10, the only major metabolite detected in urine.

Conclusion:
In conclusion, ACT-541468 is extensively metabolized predominantly by oxidative transformations.
New Advances of ICG Angiography in Parathyroid Identification
Authors: Jin Hao , Cui Min 
Published: February 2019

Objective:
For surgeons, locating parathyroid in thyroidectomy and parathyroidectomy is
critical since parathyroid plays an important role in calcium balance. The fluorescence of parathyroid
has already been found by researchers and the angiography equipment detecting the fluorescence of
parathyroid with indocyanine green has been widely applied. Using the indocyanine green angiography
and looking at the actual fluorescence of in vivo and in vitro tissues, it was possible to identify thyroid,
parathyroid, lymph nodes and fat tissues during the surgical procedure. This mini-review aims to present
the application of indocyanine green angiography in parathyroid detection and discusses the safety
of this method.

Methods:
The relevant data were searched by using the keywords “Indocyanine green,” “Parathyroid,”
and “Identification” and “Protection” in “Pubmed,” “Web of Science” and “China Knowledge Resource
Integrated databases”, and a manual search was done to acquire peer-reviewed articles and reports
about indocyanine green.

Results:
Indocyanine green dye along with the intraoperative fluorescence imaging system is safe in
detecting parathyroid and predicting postoperative hypoparathyroidism.

Conclusion:
The conclusion suggests that indocyanine green angiography is a safe, effective and easy
way to detect parathyroid glands. The conclusion will be of interest to surgeons regarding thyroidectomy
and parathyroidectomy.
Comparison of the Stress Strain Capacity between Different Clear Aligners
Authors: Ciavarella Domenico , Cianci Claudia , Laurenziello Michele , Troiano Giuseppe , De Cillis Francesco , Tepedino Michele , Montaruli Graziano , Grassia Vincenzo , Lo Muzio Lorenzo , Pappalettere Carmine 
Published: February 2019

Background:The rife use of aesthetic appliance in orthodontic treatment requires the study of the properties of the materials they are made of.Objective:The aim of the present study was to evaluate the dimensional stability of clear aligners made of three different materials after the application ofin-vivodynamic stress andin-vitrostatic stress.Methods:Three different aligners made of different materials (PET-G; PET; SmartTrack®), prepared on the dental arch of the same patient, were tested. For each material, three aligner samples were manufactured: one to be usedin-vivo, one to be testedin-vitro, and one to be used as a control.To evaluate the effects of the dynamic stress producedin-vivo, each aligner was worn by a single patient 22 hours per day, followed by a wash-out period of two weeks. To evaluate the effects of static stress, each aligner was exposed to thein-vitrocontinuous force of 50N. The tested and control aligners were scanned, then linear measurements were taken to evaluate their dimensional stability after different types of stresses.Results:PET seems to have the lowest percentage of deformation; PET-G and SmartTrack®showed a reduced deformation going from the posterior to the anterior area. The contact with human saliva induces a greater deformation.Conclusion:Different materials show different behavior following application of static stresses and dynamic stresses in the oral cavity. PET showed the highest dimensional stability.
Validasi Modul Pelatihan Pendampingan Klien pada Pekerja Sosial
Authors: Yolanda Yova Tri , Utami Muhana Sofiati 
Published: February 2019

Purpose of this research is to validated the module Client Facilitating Training to increase social worker knowledge about stress and skill for facilitating client. Training included psychoeducation about stress and management stress, basic of client facilitating method and communication skill in facilitating process. Subjects of this research are 12 social worker and divided to experiment and control group. This research using quasi experiment with non control group design with pretest and post test sample. Data collected by management stres questionnaire, facilitating scale and field data collected by observer and supervisor. Results indicated that there is a significant differences between experiment and control groups in stress and management stress (Z=-3,017; p<0,05) with large effect size of 0,87 and Facilitatting skill (Z= -1,354; p<0,05) with large effect size of 0,84. Client Facilitating Training is valid to improve social worker knowledge stress and management stress and facilitating skill.
Estrategias de tutoría para el acompañamiento del estudiante en el Bachillerato Virtual de la Universidad Autónoma de Sinaloa
Authors: Pastor Angulo Martín , Pastor Casillas Gabriel Roberto 
Published: February 2019

<p>En el año 2006, la Universidad Autónoma de Sinaloa (UAS) adoptó oficialmente el Programa Institucional de Tutorías, el cual es un servicio que responde a los lineamientos estipulados en la legislación universitaria y que se ofrece en todas las Unidades Académicas con el propósito de fortalecer la formación integral del estudiante, al brindarle apoyo durante toda su trayectoria. </p><p>Los alumnos del Bachillerato Virtual cuentan con un tutor que los acompaña a lo largo de los dos años que duran sus estudios en el Centro de Universidad Virtual. Dicho tutor emplea diferentes recursos de la plataforma (mensajería personal, chat, videoconferencia, foros), además del correo electrónico, a fin de contar con una mejor perspectiva de su grupo en lo referente a motivación, hábitos de estudio y autoestima, entre otros. Asimismo, recurre a los asesores par, quienes se encargan del aspecto académico del grupo e informan al tutor sobre su desempeño. </p><p>Debido a la diversidad de estudiantes que ingresan al Bachillerato Virtual, es de esperar que algunos de ellos requieran un tipo de atención diferente. En estos casos, el Responsable de Tutorías canaliza a todos aquellos que necesitan una atención especializada por parte de un profesional, como puede ser un psicólogo o un psicopedagogo. Todo esto con el fin de la mejora continua en la vida escolar del tutorado.</p>
Editorial
Authors: Cervantes Francisco 
Published: February 2019

<p>En el editorial del número 20 de la RMBD, edición de aniversario, el doctor Francisco Cervantes Pérez, Titular de la Coordinación de Universidad Abierta y Educación a Distancia, aborda los contenidos sobre los recursos con la temática propia de esta edición para utilidad de los asesores, tutores, diseñadores, desarrolladores, gestores, directivos, investigadores y estudiantes que participan de las actividades de la educación en línea del nivel medio superior.</p><p><span>Para visualizar el video vaya al siguiente enlace:</span> <a href="https://www.youtube.com/watch?v=2sfIKSx2f5Q&amp;feature=youtu.be" target="_self">https://youtu.be/2sfIKSx2f5Q</a></p>
Rawls y un principio de diferencia global
Authors: Dimitriu Cristian 
Published: February 2019

En este trabajo me propongo analizar algunos de los argumentos de John Rawls en contra de un principio de diferencia internacional, tal como fueron presentados en Un derecho de gentes. Sostengo que estos argumentos son inconsistentes con el principio de diferencia doméstico. Si los aceptamos, entonces tendremos que afrontar el dilema de o bien tener que aceptar dicho principio distributivo en ambos ámbitos (el doméstico y el internacional) o bien tener que rechazarlo por completo. También sostengo que las posibles objeciones de Rawls a esta crítica se basan en la dudosa premisa empírica de que los países son exclusivamente responsables de su propio fracaso.