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https://www.readbyqxmd.com/read/27903446/polycystic-ovary-syndrome-an-under-recognized-cause-of-abnormal-uterine-bleeding-in-adolescents-admitted-to-a-children-s-hospital
#1
Sofya Maslyanskaya, Hina J Talib, Jennifer L Northridge, Amanda M Jacobs, Chanelle Coble, Susan M Coupey
STUDY OBJECTIVE: To evaluate whether ovulatory dysfunction due to polycystic ovary syndrome (PCOS) is a common underlying etiology of abnormal uterine bleeding (AUB) in adolescents requiring hospitalization and to explore etiology, treatment and complications of AUB with severe anemia in adolescents. DESIGN: We identified females aged 8 to 20 years admitted to a children's hospital for treatment of AUB from January 2000 to December 2014. Our hospital protocol advises hormonal testing for PCOS and other disorders prior to treatment for AUB...
November 26, 2016: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/27900010/a-novel-mutation-of-the-fat2-gene-in-spinal-meningioma
#2
Genshu Tate, Koji Kishimoto, Toshiyuki Mitsuya
Meningiomas may be classified as neurofibromin 2 (NF2)-associated and non-NF2 meningiomas depending on the presence or absence of molecular alterations in the NF2 gene. One of the characteristic histological features of meningiomas is the whorl formation of neoplastic arachnoid cells. NF2 is a human homolog of the Drosophila gene, Merlin (Mer). In humans, NF2 is the gene responsible for the disease neurofibromatosis type II, which results in the development of brain tumors, including acoustic neurinoma and meningioma...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27899602/the-human-phenotype-ontology-in-2017
#3
Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, Erin Foster, Julie McMurry, Ségolène Aymé, Gareth Baynam, Susan M Bello, Cornelius F Boerkoel, Kym M Boycott, Michael Brudno, Orion J Buske, Patrick F Chinnery, Valentina Cipriani, Laureen E Connell, Hugh J S Dawkins, Laura E DeMare, Andrew D Devereau, Bert B A de Vries, Helen V Firth, Kathleen Freson, Daniel Greene, Ada Hamosh, Ingo Helbig, Courtney Hum, Johanna A Jähn, Roger James, Roland Krause, Stanley J F Laulederkind, Hanns Lochmüller, Gholson J Lyon, Soichi Ogishima, Annie Olry, Willem H Ouwehand, Nikolas Pontikos, Ana Rath, Franz Schaefer, Richard H Scott, Michael Segal, Panagiotis I Sergouniotis, Richard Sever, Cynthia L Smith, Volker Straub, Rachel Thompson, Catherine Turner, Ernest Turro, Marijcke W M Veltman, Tom Vulliamy, Jing Yu, Julie von Ziegenweidt, Andreas Zankl, Stephan Züchner, Tomasz Zemojtel, Julius O B Jacobsen, Tudor Groza, Damian Smedley, Christopher J Mungall, Melissa Haendel, Peter N Robinson
Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.human-phenotype-ontology.org) project are the phenotype vocabulary, disease-phenotype annotations and the algorithms that operate on these. These components are being used for computational deep phenotyping and precision medicine as well as integration of clinical data into translational research...
November 28, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27874005/the-hippo-signalling-pathway-coordinates-organ-growth-and-limits-developmental-variability-by-controlling-dilp8-expression
#4
Emilie Boone, Julien Colombani, Ditte S Andersen, Pierre Léopold
Coordination of organ growth during development is required to generate fit individuals with fixed proportions. We recently identified Drosophila Dilp8 as a key hormone in coupling organ growth with animal maturation. In addition, dilp8 mutant flies exhibit elevated fluctuating asymmetry (FA) demonstrating a function for Dilp8 in ensuring developmental stability. The signals regulating Dilp8 activity during normal development are not yet known. Here, we show that the transcriptional co-activators of the Hippo (Hpo) pathway, Yorkie (Yki, YAP/TAZ) and its DNA-binding partner Scalloped (Sd), directly regulate dilp8 expression through a Hpo-responsive element (HRE) in the dilp8 promoter...
November 22, 2016: Nature Communications
https://www.readbyqxmd.com/read/27866938/ovulation-induction-in-polycystic-ovary-syndrome-current-options
#5
REVIEW
Richard S Legro
There are a variety of effective treatment options to induce ovulation in women with polycystic ovary syndrome (PCOS). The most effective treatments are primarily reproductive and target the hypothalamic-pituitary-ovarian (HPO) axis. Letrozole, an aromatase inhibitor, is headed toward replacing clomiphene, a selective estrogen receptor modulator, as the first-choice option. Metabolic treatments likely work indirectly through the HPO axis. Many metabolic treatments have shown initial promise and later failed (troglitozone or d-chiro-inositol) or disappointed (metformin); further studies are needed of newer agents to treat type 2 diabetes...
September 21, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27848944/clinical-exome-sequencing-results-from-2819-samples-reflecting-1000-families
#6
Daniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, Maximilian Er Weiss, Julia Köster, Anett Marais, Omid Paknia, Rolf Schröder, Jose Maria Garcia-Aznar, Martin Werber, Oliver Brandau, Maria Calvo Del Castillo, Caterina Baldi, Karen Wessel, Shivendra Kishore, Nahid Nahavandi, Wafaa Eyaid, Muhammad Talal Al Rifai, Ahmed Al-Rumayyan, Waleed Al-Twaijri, Ali Alothaim, Amal Alhashem, Nouriya Al-Sannaa, Mohammed Al-Balwi, Majid Alfadhel, Arndt Rolfs, Rami Abou Jamra
We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from 54 countries with a wide phenotypic spectrum. Clinical information given by the requesting physicians was translated to HPO terms. WES processes were performed according to standardized settings. We identified the underlying pathogenic or likely pathogenic variants in 307 families (30.7%). In further 253 families (25.3%) a variant of unknown significance, possibly explaining the clinical symptoms of the index patient was identified...
November 16, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27827964/medium-optimization-and-fermentation-kinetics-for-%C3%AE%C2%BA-carrageenase-production-by-thalassospira-sp-fjfst-332
#7
Juanjuan Guo, Longtao Zhang, Xu Lu, Shaoxiao Zeng, Yi Zhang, Hui Xu, Baodong Zheng
Effective degradation of κ-carrageenan by isolated Thalassospira sp. fjfst-332 is reported for the first time in this paper. It was identified by 16S rDNA sequencing and morphological observation using Transmission Electron Microscopy (TEM). Based on a Plackett-Burman design for significant variables, Box-Behnken experimental design and response surface methodology were used to optimize the culture conditions. Through statistical optimization, the optimum medium components were determined as follows: 2.0 g/L κ-carrageenan, 1...
November 5, 2016: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/27797759/transfer-learning-across-ontologies-for-phenome-genome-association-prediction
#8
Raphael Petegrosso, Sunho Park, Tae Hyun Hwang, Rui Kuang
MOTIVATION: To better predict and analyze gene associations with the collection of phenotypes organized in a phenotype ontology, it is crucial to effectively model the hierarchical structure among the phenotypes in the ontology and leverage the sparse known associations with additional training information. In this paper, we first introduce Dual Label Propagation (DLP) to impose consistent associations with the entire phenotype paths in predicting phenotype-gene associations in Human Phenotype Ontology (HPO)...
October 22, 2016: Bioinformatics
https://www.readbyqxmd.com/read/27789079/quantifying-the-relationship-between-visibility-degradation-and-pm2-5-constituents-at-a-suburban-site-in-hong-kong-differentiating-contributions-from-hydrophilic-and-hydrophobic-organic-compounds
#9
Yugen Li, Hilda X H Huang, Stephen M Griffith, Cheng Wu, Alexis K H Lau, Jian Zhen Yu
Fine particulate matter (PM) is capable of scattering and absorbing light and is the main culprit of visibility degradation. Major PM chemical components have been characterized for their light absorption and scattering efficiency, but separating the organic components has yet to be fully parameterized with light extinction coefficients. In this study, light extinction data and PM2.5 chemical composition data were monitored at a suburban site in Hong Kong over a two-year period (2013-2014). Using the IMPROVE formula to reconstruct the light scattering coefficient under-estimates the measured scattering coefficient (slope=0...
October 24, 2016: Science of the Total Environment
https://www.readbyqxmd.com/read/27787478/dysfunctional-uterine-bleeding-as-an-early-sign-of-polycystic-ovary-syndrome-during-adolescence-an-update
#10
Efthimios Deligeoroglou, Vasileios Karountzos
AIM: Abnormal Uterine Bleeding (AUB) is a frequent reason for concern between adolescents. The most common cause of AUB in these girls, when other pathologies have been excluded, is Dysfunctional Uterine Bleeding (DUB). The aim of this review is to assess the role of DUB as an early symptom of Polycystic Ovarian Syndrome (PCOS) diagnosis later in life. METHODS: Review of the literature, using Pubmed and Medline as primary databases, regarding the correlation between DUB cases early after menarche and PCOS diagnosis in the future...
October 27, 2016: Minerva Ginecologica
https://www.readbyqxmd.com/read/27762459/the-effect-of-moisture-on-the-hydrolysis-of-basic-salts
#11
Xiaoyang Shi, Hang Xiao, Xi Chen, Klaus S Lackner
A great deal of information exists concerning the hydration of ions in bulk water. Much less noticeable, but equally ubiquitous is the hydration of ions holding on to several water molecules in nanoscopic pores or in natural air at low relative humidity. Such hydration of ions with a high ratio of ions to water molecules (up to 1:1) are essential in determining the energetics of many physical and chemical systems. Herein, we present a quantitative analysis of the energetics of ion hydration in nanopores based on molecular modeling of a series of basic salts associated with different numbers of water molecules...
October 20, 2016: Chemistry: a European Journal
https://www.readbyqxmd.com/read/27747589/expression-profile-and-prognostic-value-of-sav1-in-patients-with-pancreatic-ductal-adenocarcinoma
#12
Lei Wang, Yu Wang, Peng-Ping Li, Rui Wang, Yue Zhu, Fang Zheng, Lin Li, Jiu-Jie Cui, Li-Wei Wang
SAV1 is a human homolog of salvador that contains two protein-protein interaction modules known as WW domains and acts as a scaffolding protein for Hpo and Warts. SAV1 is known to be a tumor suppressor, but its clinical and prognostic implications remain elusive. This study aimed at evaluating the prognostic significance and associated expression of SAV1 in pancreatic ductal adenocarcinoma (PDAC) patients. The expression of SAV1 in tissue specimens of PDAC patients were assayed with immunohistochemistry on a tissue microarray...
October 17, 2016: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/27723479/roles-of-singlet-oxygen-and-dissolved-organic-matter-in-self-sensitized-photo-oxidation-of-antibiotic-norfloxacin-under-sunlight-irradiation
#13
Xi-Zhi Niu, Francesco Busetti, Markus Langsa, Jean-Philippe Croué
Many fluoroquinolone (FLQ) antibiotics undergo rapid photodegradation in sunlit waters and form multifaceted photo-products. The high photodegradation rate is primarily ascribed to their photosensitizing properties. Though widely studied, the photo-reaction pathways are not completely revealed; photo-products mediated by different reactive oxygen species are not identified. In our study, photo-degradation of fluoroquinolone norfloxacin was investigated. A rapid degradation in buffered water was observed with a first-order rate constant of 2...
October 4, 2016: Water Research
https://www.readbyqxmd.com/read/27721027/the-utility-of-routine-ultrasound-in-the-diagnosis-and-management-of-adolescents-with-abnormal-uterine-bleeding
#14
Yael Pecchioli, Lamide Oyewumi, Lisa M Allen, Sari Kives
STUDY OBJECTIVE: Despite the fact that most cases of abnormal uterine bleeding (AUB) in adolescence are due to an immature hypothalamic-pituitary-ovarian axis (HPO), the current approach to investigating adolescents presenting with AUB often includes pelvic ultrasound to exclude rare structural causes. The aim of this study was to determine whether an ultrasound ordered for the investigation of AUB in adolescents detects any significant anatomic pathology or alters diagnosis and management...
October 6, 2016: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/27703231/oahg-an-integrated-resource-for-annotating-human-genes-with-multi-level-ontologies
#15
Liang Cheng, Jie Sun, Wanying Xu, Lixiang Dong, Yang Hu, Meng Zhou
OAHG, an integrated resource, aims to establish a comprehensive functional annotation resource for human protein-coding genes (PCGs), miRNAs, and lncRNAs by multi-level ontologies involving Gene Ontology (GO), Disease Ontology (DO), and Human Phenotype Ontology (HPO). Many previous studies have focused on inferring putative properties and biological functions of PCGs and non-coding RNA genes from different perspectives. During the past several decades, a few of databases have been designed to annotate the functions of PCGs, miRNAs, and lncRNAs, respectively...
October 5, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27695148/pilot-scale-spiral-wound-membrane-assessment-for-thm-precursor-rejection-from-upland-waters
#16
D Golea, S Sutherland, P Jarvis, S J Judd
The outcomes of a pilot-scale study of the rejection of trihalomethanes (THMs) precursors by commercial ultrafiltration/nanofiltration (UF/NF) spiral-wound membrane elements are presented based on a single surface water source in Scotland. The study revealed the expected trend of increased flux and permeability with increasing pore size for the UF membranes; the NF membranes provided similar fluxes despite the lower nominal pore size. The dissolved organic carbon (DOC) passage decreased with decreasing molecular weight cut-off, with a less than one-third the passage recorded for the NF membranes than for the UF ones...
May 23, 2016: Separation Science and Technology
https://www.readbyqxmd.com/read/27693042/a-summary-of-the-influence-of-exogenous-estrogen-administration-across-the-lifespan-on-the-gh-igf-1-axis-and-implications-for-bone-health
#17
Emily A Southmayd, Mary Jane De Souza
Bone growth, development, and remodeling are modulated by numerous circulating hormones. Throughout the lifespan, the extent to which each of the hormones impacts bone differs. Understanding the independent and combined impact of these hormones on controlling bone remodeling allows for the development of more informed decision making regarding pharmacology, specifically the use of hormonal medication, at all ages. Endocrine control of bone health in women is largely dictated by the growth hormone (GH)/insulin-like growth factor-1 (IGF-1) axis and the hypothalamic-pituitary-ovarian (HPO) axis...
September 13, 2016: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/27614106/genetic-analysis-of-hereditary-gingival-fibromatosis-using-whole-exome-sequencing-and-bioinformatics
#18
J Hwang, Y-L Kim, S Kang, S Kim, S-O Kim, J H Lee, D-H Han
OBJECTIVES: Our study aims to identify genetic variants associated with hereditary gingival fibromatosis (HGF) by applying whole-exome sequencing (WES) and bioinformatics analyses such as gene set enrichment analysis (GSEA) and protein functional network study. SUBJECTS AND METHODS: Two affected siblings whose grandparents and parents have normal gingiva were chosen for our investigation. Saliva collected from the patients and their parents were used for WES. GSEA and protein functional network study were performed to find gene groups in a biological coordination which are associated with HGF...
September 10, 2016: Oral Diseases
https://www.readbyqxmd.com/read/27545887/the-strip-hippo-pathway-regulates-synaptic-terminal-formation-by-modulating-actin-organization-at-the-drosophila-neuromuscular-synapses
#19
Chisako Sakuma, Yoshie Saito, Tomoki Umehara, Keisuke Kamimura, Nobuaki Maeda, Timothy J Mosca, Masayuki Miura, Takahiro Chihara
Synapse formation requires the precise coordination of axon elongation, cytoskeletal stability, and diverse modes of cell signaling. The underlying mechanisms of this interplay, however, remain unclear. Here, we demonstrate that Strip, a component of the striatin-interacting phosphatase and kinase (STRIPAK) complex that regulates these processes, is required to ensure the proper development of synaptic boutons at the Drosophila neuromuscular junction. In doing so, Strip negatively regulates the activity of the Hippo (Hpo) pathway, an evolutionarily conserved regulator of organ size whose role in synapse formation is currently unappreciated...
August 30, 2016: Cell Reports
https://www.readbyqxmd.com/read/27506038/-influencing-factors-of-assimilable-organic-carbon-aoc-formation-in-drinking-water-during-ozonation-process
#20
Bing-zhi Dong, Jia-li Zhang, Chang He
The influences of ozone dosage, pH and ionic strength on the formation of Assimilable Organic Carbon (AOC) during ozonation were investigated. The result demonstrated that within the range of 1-5 mg · L⁻¹ O₃, the formation of AOC increased with increasing ozone dosage, but higher ozone dosage (9 mg · L⁻¹) resulted in reduction of AOC formation. AOC formation increased with higher pH but decreased with increasing ionic strength. The result also showed that AOC formation with hydrophobic fraction (HPO) was the most, followed by transphilic fraction (TPI), and charged hydrophilic fraction (CHPI), while neutral hydrophilic fraction (NHPI) was the least...
May 15, 2016: Huan Jing Ke Xue= Huanjing Kexue
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