bluuebunny/crossref_metadata_2025_split huggingface dataset:
Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association
Authors: Du Yang Timothy , Rutter Angus , Ho Jui T 
Published: July 2018

Summary
A 40-year-old man with achondroplasia presented with symptoms of hypogonadism, low libido and gynaecomastia. He was found to have hypergonadotropic hypogonadism, and karyotype and fluorescent in situ hybridisation analysis showed SRY-positive 46, XX disorder of sex development (DSD). He was tested to have the common activating mutation of the FGFR3 gene implicated in achondroplasia, indicating that he had the two rare conditions independently, with an extremely low incidence of 1 in 400 million. This, to the best of our knowledge, is the first report of an individual having these two rare conditions concurrently. This case highlights that individuals with achondroplasia should have normal sexual development, and in those presenting with incomplete sexual maturation or symptoms of hypogonadism should prompt further evaluation. We also propose a plausible link between achondroplasia and 46, XX DSD through the intricate interactions between the SRY, SOX9 and FGFR9 gene pathways.

Learning points:

The SOX9 and FGF9 genes, which are upregulated by the SRY gene, are important in both sex determination in the embryo, as well as endochondral bone growth.

Patients with achondroplasia should have normal sexual development and function in the absence of other confounding factors.

Patients with achondroplasia who present with symptoms and signs of abnormal sexual development and/or hypogonadism should be appropriately investigated for other causes.
An unusual case of shortness of breath
Authors: Wan Muhammad Hatta S F , Kandaswamy L , Gherman-Ciolac C , Mann J , Buch H N 
Published: July 2018

Summary
Myopathy is a well-known complication of hypercortisolism and commonly involves proximal lower-limb girdle. We report a rare case of Cushing’s syndrome in a 60-year-old female presenting with significant respiratory muscle weakness and respiratory failure. She had history of rheumatoid arthritis, primary biliary cirrhosis and primary hypothyroidism and presented with weight gain and increasing shortness of breath. Investigations confirmed a restrictive defect with impaired gas transfer but with no significant parenchymatous pulmonary disease. Respiratory muscle test confirmed weakness of respiratory muscles and diaphragm. Biochemical and radiological investigations confirmed hypercortisolaemia secondary to a left adrenal tumour. Following adrenalectomy her respiratory symptoms improved along with an objective improvement in the respiratory muscle strength, diaphragmatic movement and pulmonary function test.

Learning points:

Cushing’s syndrome can present in many ways, a high index of suspicion is required for its diagnosis, as often patients present with only few of the pathognomonic symptoms and signs of the syndrome.

Proximal lower-limb girdle myopathy is common in Cushing’s syndrome. Less often long-term exposure of excess glucocorticoid production can also affect other muscles including respiratory muscle and the diaphragm leading to progressive shortness of breath and even acute respiratory failure.

Treatment of Cushing’s myopathy involves treating the underlying cause that is hypercortisolism. Various medications have been suggested to hinder the development of GC-induced myopathy, but their effects are poorly analysed.
High Blood Pressure at Early School Age Among Extreme Preterms
Authors: Vohr Betty R. , Heyne Roy , Bann Carla , Das Abhik , Higgins Rosemary D. , Hintz Susan R. ,   for the Eunice Kennedy Shriver National Institute of Child Health,   Development Neonatal Research Network
Published: July 2018

BACKGROUND AND OBJECTIVES:
Former preterm infants are at increased risk of hypertension with increasing age. Our objective was to identify rates of high blood pressure (BP) (≥90th percentile) and hypertension (BP ≥95th percentile) and associated risk factors among extreme preterm (EPT) infants at 6 to 7 years of age.

METHODS:
Assessment included BP and anthropometrics. Comparisons were made by BP ≥90th versus &lt;90th percentile. Regressions were run to identify relative risk (RR) of factors associated with BP ≥90th percentile.

RESULTS:
Among 379 EPT infants, 20.6% had systolic high BP, 10.8% systolic hypertension, 21.4% diastolic high BP, and 11.4% diastolic hypertension. Children with systolic high BP had higher rates of BMI, triceps skinfolds &gt;85th percentile, and waist circumference &gt;90th percentile. In regression analyses, weight gain velocity from 18 months to school age (RR = 1.36), and maternal gestational diabetes (MGD) (RR = 2.04) predicted systolic and either systolic and/or diastolic high BP (RR = 1.27 and RR = 1.67). Among children with BMI &lt;85th percentile, 17% had systolic and 19% had diastolic high BP. Regression analysis for normal weight children indicated public insurance (RR = 2.46) and MGD (RR = 2.16) predicted systolic high BP, and MGD (RR = 2.08) predicted either systolic or diastolic high BP.

CONCLUSIONS:
Both overweight and normal weight EPT children are at risk for high BP and hypertension. Public insurance, MGD, and weight gain velocity are risk factors. Findings of high BP among EPT children at early school age are worrisome and indicate a need for close follow-up.
Expresión de EDNRB y CDX2 posibles biomarcadores en progresión al cáncer cervical
Authors: García Robayo Dabeiba Adriana , Castañeda Diego Andres , Baena Juvenal Dario , Cid Arregui Angel , Aristizabal Fabio Ancizar 
Published: July 2018

De acuerdo a la historia natural del cáncer del cuello uterino, en donde las lesiones preneoplásicas de bajo y alto grado pueden presentar fenómenos de regresión o progresión, existe gran interés en la búsqueda de biomarcadores que permita predecir la evolución de las lesiones preneoplásicas del cérvix hacia la progresión o regresión de la enfermedad. Estos biomarcadores pudieran ser de origen genético, o epigenético que alteren la expresión de los genes y que pudieran estar asociados con la carcinogénesis en diferentes tipos de tejido humano. El objetivo del estudio fue analizar la expresión del mARN de los genes SFRP1, PTPRN, CDO1, EDNRB, CDX2, EPB41L3 y HAND1 en muestras negativas para lesiones intraepiteliales cervicales (n=9), muestras con lesiones intraepiteliales de bajo grado (n=10) y alto grado (n=11). Se realizó análisis de expresión de los genes mencionados mediante qRT-PCR y el análisis de los datos se realizó mediante la prueba no paramétrica de ANOVA. La diferencia estadística se determinó en valores p< 0,05. Para los genes EDNRB y CDX2 se observó disminución 66,7% en las muestras sin alteraciones histológicas cervicales, comparado con una disminución en la expresión del 50% en muestras con LIEBG y para el grupo de LIEAG del 36,4% para el gen EDNRB y del 27,3% para el gen CDX2 dando una diferencia estadísticamente significativa p= 0,02. Sugiriendo que EDNRB y CDX2 podrían ser útiles como posibles biomarcadores en la carcinogénesis cervical.
Pengaruh pemberian takaran fungi mikoriza arbuskular (FMA) terhadap pertumbuhan bibit kopi arabika (Coffea arabica L.)
Authors: Sugiarti Lia , Taryana Yana 
Published: July 2018

Fungi Mikoriza Arbuskular (FMA) banyak ditemukan pada perakaran kopi. Tujuan dari percobaan ini untuk mempelajari pengaruh pemberian takaran FMA terhadap pertumbuhan bibit kopi Arabika (Coffea arabica L). Percobaan dilaksanakan dari bulan Mei sampai dengan bulan Agustus 2017, bertempat di Kebun Percobaan Fakultas Pertanian Universitas Winaya Mukti, Tanjungsari, Sumedang, dengan ketinggian tempat 850 m dpl. Rancangan yang digunakan dalam penelitian ini adalah Rancangan Acak Kelompok (RAK) terdiri atas enam perlakuan dan diulang sebanyak empat kali. Perlakuan takaran FMA jenis Glomus agregatum yang terdiri dari A = 0 g tan-1; B = 10 g tan -1; C = 20 g tan-1; D = 30 g tan-1; E = 40 g tan-; dan F = 50 g tan-1. Hasil percobaan menunjukkan bahwa pemberian takaran inokulasi FMA berpengaruh terhadap tinggi tanaman dan bobot kering tanaman. Pemberian takaran inokulasi FMA dengan takaran 40 g tan-1- sampai 50 g tan-1 memberikan pengaruh yang terbaik terhadap tinggi tanaman dan bobot kering tanaman. Dengan demikian pemberian FMA 40 g tan-1- sampai 50 g tan-1 dapat digunakan pada pembibitan kopi arabika. Arbuscular Mycorrhizal Fungi (AMF) is commonly found in coffee roots. The purpose of the research was to study effect of AMF application on growth of arabica coffee seedling (Coffea arabica L). The research was conducted from May to August 2017, at Research Station of Agriculture Faculty Universitas Winaya Mukti, Tanjungsari Sumedang, at 850 m above sea levels. The research used Randomized Block Design (RBD) consisted of six treatments and four replications. The treatment was dosage of AMF from Glomus agregatum type i.e. : A = 0 g plant-1; B = 10 g plant-1; C = 20 g plant-1; D = 30 g plant-1; E = 40 g plant-1; F = 50 g plant-1. Each plot consisted of 10 polybag with 4 sample plants. The research result showed that application of AMF affected on plant height and dry weight of plant, which the best effect was generated by 40 g plant-1- until 50 g plant-1 dosages . It is simply that AMF 40 g plant-1 - 50 g plant-1 can be used in arabica coffee nursery.
Keragaman genetik dan heritabilitas karakter komponen hasil dan hasil ciplukan (Physalis sp.)
Authors: Effendy Effendy , Respatijarti Respatijarti , Waluyo Budi 
Published: July 2018

Ciplukan (Physalis sp.) merupakan salah satu tumbuhan yang potensial untuk dikembangkan sebagai sumber biofarmaka dan buah di Indonesia. Peningkatan produksi ini dapat dilakukan melalui penyediaan varietas-varietas unggul ciplukan dengan meningkatkan kapasitas genetik melalui program pemuliaan tanaman. Pemuliaan tanaman akan berhasil jika terdapat keragaman genetik yang luas dan heritabilitas tinggi. Penelitian ini bertujuan untuk mempelajari keragaman genetik dan heritabilitas pada karakter komponen hasil dan hasil ciplukan. Percobaan menggunakan rancangan acak kelompok dengan 34 aksesi ciplukan sebagai perlakuan diulang tiga kali. Penelitian dilaksanakan di Kelurahan Areng-Areng, Kecamatan Junrejo, Kota Batu pada bulan Mei - September 2017. Karakter pada tanaman ciplukan ada yang mempunyai keragaman luas dan ada yang mempunyai keragaman sempit. Keragaman yang luas terdapat pada tinggi batang, jumlah bunga per tanaman, bobot per buah tanpa kelopak, bobot per buah dengan kelopak, jumlah buah per tanaman, jumlah buah segar per tanaman, bobot buah per tanaman dan bobot buah segar per tanaman. Keragaman yang sempit terdapat pada karakter diameter batang, jumlah cabang tersier, jumlah bunga per cabang tersier, panjang tangkai buah, panjang kelopak, diameter kelopak, panjang buah, diameter buah, dan kemanisan buah. Nilai heritabilitas pada semua karakter termasuk kriteria tinggi. Hal ini menunjukkan pengaruh genetik lebih besar dibandingkan dengan faktor fenotip pada penampilan karakter tanaman ciplukan. Ciplukan (Physalis sp.) is one of the potential plant to be developed as a source of medical plant and fruit in Indonesia. Increase production of this plant can be done through the provision of improved varieties of ciplukan by increasing the genetic capacity through plant breeding programs. Plant breeding will be successful if there is high genetic variability and heritability. This study aimed to study genetic variability and heritability on the character of yield component and yield in Physalis. The experiment used a randomized block design with 34 accessions of ciplukan as treatment repeated three times. The research was conducted in Areng-Areng sub-district, Junrejo District, Batu City from May until September 2017. Characters in ciplukan plants have wide and narrow variability. Characters that have a wide variability are stem height, number of flower per plant, number of fruits per plant, number of fruits per plant, weight per fruit without husks, weight per fruit with husk, weight of fruit per plant, and weight of fresh fruit per plant. Characters that have narrow variability are stem diameter, number of tertiary branching, number of flower per tertiary branching, length of fruit stalk, husk length, husk diameter, fruit length, fruit diameter, and sweetness. All characters have high heritability. This shows a greater genetic influence compared to phenotypic factors on the appearance of ciplukan characters. Physalis, genetic variablity, heritabilityKey words :
A New Criterion for Pediatric AKI Based on the Reference Change Value of Serum Creatinine
Authors: Xu Xin , Nie Sheng , Zhang Aihua , Jianhua Mao , Liu Hai-Peng , Xia Huimin , Xu Hong , Liu Zhangsuo , Feng Shipin , Zhou Wei , Liu Xuemei , Yang Yonghong , Tao Yuhong , Feng Yunlin , Chen Chunbo , Wang Mo , Zha Yan , Feng Jian-Hua , Li Qingchu , Ge Shuwang , Chen Jianghua , He Yongcheng , Teng Siyuan , Hao Chuanming , Liu Bi-Cheng , Tang Ying , Wang Li-Jun , Qi Jin-Lei , He Wenjuan , He Pinghong , Liu Youhua , Hou Fan Fan 
Published: July 2018

Background
Current definitions of AKI do not take into account serum creatinine’s high variability in children.

Methods
We analyzed data from 156,075 hospitalized children with at least two creatinine tests within 30 days. We estimated reference change value (RCV) of creatinine on the basis of age and initial creatinine level in children without kidney disease or known AKI risk, and we used these data to develop a model for detecting pediatric AKI on the basis of RCV of creatinine. We defined pediatric AKI according to pediatric reference change value optimized for AKI in children (pROCK) as creatinine increase beyond RCV of creatinine, which was estimated as the greater of 20 μmol/L or 30% of the initial creatinine level.

Results
Of 102,817 children with at least two serum creatinine tests within 7 days, 5432 (5.3%) had AKI as defined by pROCK compared with 15,647 (15.2%) and 10,446 (10.2%) as defined by pediatric RIFLE (pRIFLE) and Kidney Disease Improving Global Outcomes (KDIGO), respectively. Children with pROCK-defined AKI had significantly increased risk of death (hazard ratio, 3.56; 95% confidence interval, 3.15 to 4.04) compared with those without AKI. About 66% of patients with pRIFLE-defined AKI and 51% of patients with KDIGO-defined AKI, mostly children with initial creatinine level of <30 μmol/L, were reclassified as non-AKI by pROCK, and mortality risk in these children was comparable with risk in those without AKI by all definitions.

Conclusions
pROCK criterion improves detection of “true” AKI in children compared with earlier definitions that may lead to pediatric AKI overdiagnosis.
An Analysis of the Accusative Case Use of Learners of Turkish as a Foreign Language
Authors: KIZILTAN Nalan , ATLI İşıl 
Published: July 2018

Error analysis is the process of identifying, categorizing and analysing students’ errors. Despite its limitations, it helps us gain a better understanding of the learning process in general and spot problematic structures for language learners. The aim of this study is to analyse the accusative case use of learners of Turkish as a second language. For that purpose, a mini-corpus was created based on 40 writing samples randomly selected from the texts produced by B2 and C1 level students at OMU Türkçe for their midterm and final exams during the previous academic years. In the examination of the mini-corpus, which includes 7177 tokens and 2991 types, the researchers initially identified all end of the word occurrences of the morpheme -i and its allomorphs. The correct and incorrect uses of the Turkish accusative case marking and the cases of omission were manually tagged by the researchers. All the erroneous uses have been classified under four headings: substitution, omission, addition and other. The findings of this study show that of 201 attempts to use the Turkish accusative case, 76 were erroneous. Besides, 62 instances of omission were manually tagged by the researchers. Of all the errors, substitution constituted 25,66%, addition 23,68 % , omission 40,79% and other errors 9,87%. The results mark the accusative case as a complex structure for learners and omission as the error category with the highest frequency. The study highlights the importance of teaching C-Selection rules with verbs.
Peyami Safa’nın Server Bedi Adıyla Yazdığı Masallarının Genel Bir Değerlendirmesi
Authors: TEKŞAN Keziban , ALTAŞ Derya Yeşim 
Published: July 2018

Peyami Safa, Türk edebiyatının önemli
romancılarından biri olmakla birlikte çok sayıda hikâye ve masal da kaleme
almıştır. Peyami Safa’nın hikâyeleri ve masalları okurlar tarafından pek
bilinmemektedir. Bunun sebebi, büyük ihtimalle masallarını edebi kaygı
taşımadan yazmasıdır. O, Server Bedi takma adıyla yazdığı masallarını geçimini
sağlamak amacıyla gazetelerde ve dergilerde tefrika olarak yayımlanmıştır. Bu yazıda Peyami
Safa’nın Server Bedi imzası ile yazdığı masallarının çocuk edebiyatı açısından
genel bir değerlendirilmesi yapılmıştır. Araştırma sonucunda, yazarın Server Bedi takma adıyla yazdığı masallarının
çoğu, çocuklara kazandırdığı değerler, dil ve anlatım açısından uygun bulunmuştur.
Server Bedi’nin edebi kaygı taşımadan yazdığı masalların aslında çocuklar için
edebiyat zevki oluşturabilecek düzeyde olduğu tespit edilmiştir.
DISEÑO SISMICO DE MUROS DE CONCRETO RESULTADOS DE LA PRIMERA ETAPA DE UN ESTUDIO EXPERIMENTAL
Authors: Hernández O. , Meli R. 
Published: July 2018

Se describe un programa de investigación cuyos objetivos son obtener mejores procedimientos de diseño y proponer modalidades de refuerzo que den lugar a un comportamiento sísmico más satisfactorio para muros de concreto en los que rigen los efectos de la fuerza cortante.Se comentan los resultados de una primera parte del programa en la que se ensayaron 12 muros de microconcreto sujetos a cargas alternadas, estudiando el efecto de la presencia de columnas y muros transversales en los extremos y de número de losas que cruzan el muro, para dos relaciones altura longitud de los especímenes.Se observó que en le comportamiento fue en general poco dúctil y con gran deterioro ante la repetición de cargas, siendo poco importante el efecto en dicho comportamiento de los elementos verticales y horizontales que rigidizan el muro.Otras series de ensayes están en desarrollo para estudiar el efecto de otras variables y formas de refuerzo.
ANALISIS SISMICO DE VIVIENDAS DE ADOBE
Authors: Bazán E. , Padilla M. , Meli R. 
Published: July 2018

Se presentan resultado de análisis dinámicos de casas de adobe de un piso. Los casos estudiados cubren la mayoría de las variantes en dimensiones y cargas de las construcciones que con este material existe en México. Se analiza el efecto en la respuesta sísmica de la geometria y disposición de los muros, de la forma de la planta y de la presencia de una viga de concreto en el perimetro superior de los muros. Se propone un método sencillo para evaluar las acciones que el sismo produce en los muros de casas con planta rectagular y se dan conclusiones cualitativas acerca de las precauciones para lograr un mejor comportamiento sísmico de estas construcciones.
SISTEMA UNIVERSAL DE REDUCCION DE DATOS ACELEROGRAFICOS DIGITALES EN PC
Authors: Quaas Roberto 
Published: July 2018

Se presenta un sistema de reproducción y preprocesamiento de datos sísmicos de temblores fuertes registrados en cita magnética digital por acelerógrafos DCA-310, DCA-333, DSA-1, PDR-1, Y ADII-1. El sistema, basado en una computadora tipo PC, permite procesar fuera de línea registros acelerográficos digitales de manera rápida y eficiente, proceso que anteriormente se tenía que realizar en una minicomputadora. Mediante un conjunto de programas interactivos manejados por menú, se ejecutan las siguientes tareas básicas: lecturas de datos de cassette, decodoficación y almacenamiento en disco de la información con un formato estándar, graficación de los acelerogramas en pantalla de la alta resolución, eliminación de offset, decodificación del reloj interno y externo (OMEGA), corrección y despliegue de la fecha, hora del evento y datos del instrumento, obtención de aceleraciones máximas, edición gráfica mediante cursor, expansión (zoom) y comprensión de registros, cálculo de espectros de Fourier, impresión de graficación en un trazador de pluma y transmisión de datos editados a otra computadora.
MAPA DE PERIODOS DOMINANTES DE LA VIBRACION AMBIENTAL DE LOS SUELOS BLANDOS DEL VALLE DE MEXICO
Authors: Mendoza L. , Acosta J. , Huerta C. , Reyes A. , Otero J. 
Published: July 2018

Para la ingeniería sísmica de la cd. de México es de gran importancia el conocimiento de las respuesta sísmica del suelo, por lo que un estudio detallado de la distribuición de los periodos dominantes de la vibración del suelo en el valle de México es un paso hacia la consecución de una interpretación cuantitativa de los efectos de amplificación sísmica observados. Este estudio se enfoca hacia obtener un mapa más detallado de la distribución de los períodos dominantes del suelo para este valle. Para ello se usaron 207 registros superficiales de ruido sísmico, más dos registros a profundidades de 20 y 40 m en un sitio. La microzonificación sísmica con el uso de registros de movimientos fuertes generados por terremotos grandes es una tarca muy difícil, tanto por la naturaleza no predecible de la ocurrencia de éstos, como para la necesidad de usar una gran cantidad de estaciones registradoras simultáneas. Por otro lado, estos problemas son de fácil solución con el uso de grabaciones de movimientos sísmicos débiles (microsismicidad), explosiones, o ruido sísmico ambiental. La ventaja de usar ruido sísmico es que puede ser registrado con la distribución espacial y temporal que más convenga, por ello este tipo de información constituye la base de datos de este trabajo. Los resultados se muetran en mapas de periodos dominantes del suelo, en conjunto con datos de otros estudios previos. Este conocimiento es útil si se considera que los edificios dañados en anteriores terremotos tenían periodos naturales similares a los de los suelos. También se presentan relaciones entre la geometría de las capas superficiales del suelo y los periodos dominantes. En este trabajo no se analiza la parte complementaria a la respuesta sísmica, la amplitud del movimiento, debido a las incertidumbres en las extrapolacionse lineales hacia movimientos fuertes.
CHARACTERISTICS OF EARTHQUAKES IN THE MEXICAN SUBDUCTION ZONE ON STRONG MOTION ACCELEROGRAMS
Authors: Anderson John , Quaas Roberto , Chen Quigbin , Almora David , Vázquez Ricardo , Velasco Juan , Pérez Citlali , Castro Gerardo 
Published: July 2018

Aceelerograms recorded on the Guerrero, Mexico, strong motion accelerograph network illustrate the dependence of strong ground motion on the magnitude and the hypocenter distance. These data suppport the hipothesis that complexity in accelerograms at short distances arises from complexity at the source. The duration of strong shaking is controlled by the source dimension at short distances, and extended by wave porpagation effects as distance increases. Peak amplitudes (peak acceleration, velocity) saturate at different magnitudes at different distances. This change in shape of attenuation curves as magnitude increases can be explained by the trnasition of Green's functions from simple, short pulses at short distances to longer duration wave trains at large distances. Spectral amplitudes demonstrate scalin relations in which loe frequency amplitudes are proportional to seismic moment but high frecuencies increase much less rapidly. The beginnings of large earthquakes look like small earthquakes, consistent with a cascade model for the growth of large events. The mostrecent large earthquake, on sept. 14,995 (Mw=7.4) shows surprisingly weak peak accelerations.