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https://www.readbyqxmd.com/read/28546232/genetic-defects-in-pediatric-onset-adrenal-insufficiency-in-japan
#1
Naoko Amano, Satoshi Narumi, Mie Hayashi, Masaki Takagi, Kazuhide Imai, Toshirou Nakamura, Rumi Hachiya, Goro Sasaki, Keiko Homma, Tomohiro Ishii, Tomonobu Hasegawa
CONTEXT: Most patients with pediatric-onset primary adrenal insufficiency (PAI), such as 21-hydroxylase deficiency, can be diagnosed by measuring the urine or serum levels of steroid metabolites. However, the etiology is often difficult to determine in a subset of patients lacking characteristic biochemical findings. OBJECTIVE: To assess the frequency of genetic defects in Japanese children with biochemically uncharacterized PAI, and characterize the phenotypes of mutation-carrying patients...
May 25, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28545823/novel-molecular-subgroups-for-clinical-classification-and-outcome-prediction-in-childhood-medulloblastoma-a-cohort-study
#2
Edward C Schwalbe, Janet C Lindsey, Sirintra Nakjang, Stephen Crosier, Amanda J Smith, Debbie Hicks, Gholamreza Rafiee, Rebecca M Hill, Alice Iliasova, Thomas Stone, Barry Pizer, Antony Michalski, Abhijit Joshi, Stephen B Wharton, Thomas S Jacques, Simon Bailey, Daniel Williamson, Steven C Clifford
BACKGROUND: International consensus recognises four medulloblastoma molecular subgroups: WNT (MBWNT), SHH (MBSHH), group 3 (MBGrp3), and group 4 (MBGrp4), each defined by their characteristic genome-wide transcriptomic and DNA methylomic profiles. These subgroups have distinct clinicopathological and molecular features, and underpin current disease subclassification and initial subgroup-directed therapies that are underway in clinical trials. However, substantial biological heterogeneity and differences in survival are apparent within each subgroup, which remain to be resolved...
May 22, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28545234/validation-of-splicing-events-in-transcriptome-sequencing-data
#3
Wolfgang Kaisers, Johannes Ptok, Holger Schwender, Heiner Schaal
Genomic alignments of sequenced cellular messenger RNA contain gapped alignments which are interpreted as consequence of intron removal. The resulting gap-sites, genomic locations of alignment gaps, are landmarks representing potential splice-sites. As alignment algorithms report gap-sites with a considerable false discovery rate, validations are required. We describe two quality scores, gap quality score (gqs) and weighted gap information score (wgis), developed for validation of putative splicing events: While gqs solely relies on alignment data wgis additionally considers information from the genomic sequence...
May 23, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28541326/rapidly-star-forming-galaxies-adjacent-to-quasars-at-redshifts-exceeding-6
#4
R Decarli, F Walter, B P Venemans, E Bañados, F Bertoldi, C Carilli, X Fan, E P Farina, C Mazzucchelli, D Riechers, H-W Rix, M A Strauss, R Wang, Y Yang
The existence of massive (10(11) solar masses) elliptical galaxies by redshift z ≈ 4 (refs 1, 2, 3; when the Universe was 1.5 billion years old) necessitates the presence of galaxies with star-formation rates exceeding 100 solar masses per year at z > 6 (corresponding to an age of the Universe of less than 1 billion years). Surveys have discovered hundreds of galaxies at these early cosmic epochs, but their star-formation rates are more than an order of magnitude lower. The only known galaxies with very high star-formation rates at z > 6 are, with one exception, the host galaxies of quasars, but these galaxies also host accreting supermassive (more than 10(9) solar masses) black holes, which probably affect the properties of the galaxies...
May 24, 2017: Nature
https://www.readbyqxmd.com/read/28540356/data-on-expression-of-genes-involved-in-estrogen-and-progesterone-action-inflammation-and-differentiation-according-to-demographic-histopathological-and-clinical-characteristics-of-endometrial-cancer-patients
#5
Maša Sinreih, Saša Štupar, Luka Čemažar, Ivan Verdenik, Snježana Frković Grazio, Špela Smrkolj, Tea Lanišnik Rižner
Endometrial cancer is the sixth most common cancer in women worldwide. It is associated with aberrant actions of steroid hormones, estrogens and progesterone, but also with enhanced inflammation and reduced cellular differentiation. Here, we show data on demographic and histopathological characteristics of 51 patients with endometrial cancer, together with data on correlations between the expression of 38 genes involved in estrogen and progesterone actions, inflammation and differentiation, and demographic characteristics...
June 2017: Data in Brief
https://www.readbyqxmd.com/read/28538687/on-forgotten-topological-indices-of-some-dendrimers-structure
#6
Yasir Bashir, Adnan Aslam, Muhammad Kamran, Muhammad Imran Qureshi, Adnan Jahangir, Muhammad Rafiq, Nargis Bibi, Nazeer Muhammad
A series of previously conducted experiments pertaining to various chemicals and drugs uncover a natural linkage between the molecular structures and the bio-medical and pharmacological characteristics. The forgotten topological index computed for the molecular structures of various chemical compounds and drugs has proven significant in medical and pharmaceutical fields by predicting biological features of new chemical compounds and drugs. A topological index can be considered as the transformation of chemical structure into a real number...
May 24, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28538409/a-case-report-of-pedigree-of-a-homozygous-mutation-of-the-steroidogenic-acute-regulatory-protein-causing-lipoid-congenital-adrenal-hyperplasia
#7
Rong Fu, Lin Lu, Jun Jiang, Min Nie, Xiaojing Wang, Zhaolin Lu
RATIONALE: Lipoid congenital adrenal hyperplasia (LCAH) is extremely rare, but is the most fatal form of congenital adrenal hyperplasia resulting from mutations in the steroidogenic acute regulatory protein (STAR) gene. LCAH arises from severe defects in the conversion of cholesterol to pregnenolone, the precursor of all steroids. PATIENT CONCERNS: A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28538314/do-neuromuscular-dentistry-designed-mouthguards-enhance-dynamic-movement-ability-in-competitive-athletes
#8
Joshua A Cotter, Steve T Jamison, Sarah A Schloemer, Ajit M W Chaudhari
Cotter, JA, Jamison, ST, Schloemer, SA, and Chaudhari, AMW. Do neuromuscular dentistry-designed mouthguards enhance dynamic movement ability in competitive athletes? J Strength Cond Res 31(6): 1627-1635, 2017-The purpose of this study was to examine the effect of a neuromuscular dentistry-designed mouthguard (NMDD) on dynamic movement ability. Forty-two competitive athletes (8 women, 21.9 ± 2.9 years, 66.8 ± 18.8 kg, 1.68 ± 0.11 m; 34 men, 22.8 ± 4.8 years, 77.4 ± 12.7 kg, 1.78 ± 0.08 m) with greater than 2 years' experience in their designated sport were enrolled in the study...
June 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28535724/long-term-results-of-scandinavian-total-ankle-replacement
#9
Helka Koivu, Ia Kohonen, Kimmo Mattila, Eliisa Loyttyniemi, Hannu Tiusanen
BACKGROUND: The purpose of this study was to evaluate the long-term results of the Scandinavian Total Ankle Replacement (STAR) implant in a single center. METHODS: Between 1997 and 2002, 34 consecutive ankles were replaced with the STAR ankle prosthesis and reviewed in 2016. Patients were followed both radiologically and clinically; clinical outcomes were measured with the Kofoed ankle score and subjective measurements. The median follow-up period was 159 months (13...
May 1, 2017: Foot & Ankle International
https://www.readbyqxmd.com/read/28535097/comparative-effectiveness-of-plantar-massage-techniques-on-postural-control-in-those-with-chronic-ankle-instability
#10
Erik A Wikstrom, Kyeongtak Song, Ashley Lea, Nastassia Brown
CONTEXT:   One of the major concerns after an acute lateral ankle sprain is the potential for development of chronic ankle instability (CAI). The existing research has determined that clinician-delivered plantar massage improves postural control in those with CAI. However, the effectiveness of self-administered treatments and the underlying cause of any improvements remain unclear. OBJECTIVES:   To determine (1) the effectiveness of a self-administered plantar-massage treatment in those with CAI as well and (2) whether the postural-control improvements were due to the stimulation of the plantar cutaneous receptors...
May 23, 2017: Journal of Athletic Training
https://www.readbyqxmd.com/read/28534778/the-lloydrelaxer-an-approach-to-minimize-scaling-effects-for-multivariate-projections
#11
Dirk J Lehmann, Holger Theisel
Star Coordinates are a popular projection technique in order to analyze and to disclose characteristic patterns of multidimensional data. Unfortunately, the shape, appearance, and distribution of such patterns are strongly affected by the given scaling of the data and can mislead the projection-based data analysis. In an extreme case, patterns might be more related to the choice of scaling than to the data themselves. Thus, we present the LloydRelaxer : a tool to minimize scaling-based effects in Star Coordinates...
May 17, 2017: IEEE Transactions on Visualization and Computer Graphics
https://www.readbyqxmd.com/read/28533084/gene-flow-and-genetic-drift-contribute-to-high-genetic-diversity-with-low-phylogeographical-structure-in-european-hoopoes-upupa-epops
#12
Erjia Wang, Rien E Van Wijk, Markus Santhosh Braun, Michael Wink
The Hoopoe (Upupa epops epops) breeds widely in Eurasia and most populations migrate to Africa during the boreal winter. To date, data regarding its phylogeography in Europe are missing. In this study, we investigated the phylogeography and population genetics of Hoopoes by means of mitochondrial DNA (mtDNA) sequencing as well as microsatellite genotyping. Our analyses revealed 32 haplotypes in the cytochrome c oxidase subunit I (COI) (269 individuals) and 50 haplotypes in cytochrome b (cyt b) (233 individuals)...
May 19, 2017: Molecular Phylogenetics and Evolution
https://www.readbyqxmd.com/read/28532823/effects-of-rumen-protected-methionine-and-choline-supplementation-on-steroidogenic-potential-of-the-first-postpartum-dominant-follicle-and-expression-of-immune-mediators-in-holstein-cows
#13
D A V Acosta, M I Rivelli, C Skenandore, Z Zhou, D H Keisler, D Luchini, M N Corrêa, F C Cardoso
Multiparous Holstein cows were assigned in a randomized complete block design into four treatments from 21 d before calving to 30 d in milk (DIM). Treatments were: MET [n = 19, fed the basal diet + rumen-protected methionine at a rate of 0.08% (w/w) of the dry matter, Smartamine(®) M], CHO (n = 17, fed the basal diet + choline 60 g/d, Reashure(®)), MIX (n = 21, fed the basal diet + Smartamine(®) M at a rate of 0.08% (w/w) of the dry matter and 60 g/d Reashure(®)), and CON (n = 20, no supplementation, fed the close-up and fresh cow diets)...
July 1, 2017: Theriogenology
https://www.readbyqxmd.com/read/28531846/synthesis-characterization-and-nonlinear-optical-nlo-properties-of-truxene-cored-diphenylamine-derivatives
#14
Fusheng Li, Baodong Zhao, Yu Chen, Yufei Zhang, Tao Wang, Song Xue
Three star-shaped compounds based on a truxene core (FS11, FS12 and FS13) were prepared. The truxene core is incorporating with asymmetric diphenylamines, including one phenyl of diphenylamine substituted by methoxy group and the other phenyl substituted by tolyl, fluorophenyl and phenylethynyl for FS11, FS12 and FS13, respectively. Their one-photon, two-photon absorption, geometric structures, electrochemical behavior and thermal properties were investigated. The absorption maxima of charge transfer band for FS11, FS12 and FS13 are 375nm, 373nm and 383nm, and the corresponding molar extinction coefficients of FS11, FS12 and FS13 is 79,950M(-1)cm(-1), 67,220M(-1)cm(-1) and 108,780M(-1)cm(-1)...
May 15, 2017: Spectrochimica Acta. Part A, Molecular and Biomolecular Spectroscopy
https://www.readbyqxmd.com/read/28529495/determining-the-association-between-language-and-cognitive-tests-in-poststroke-aphasia
#15
Kylie J Wall, Toby B Cumming, David A Copland
BACKGROUND: Individuals with aphasia are often excluded from studies exploring poststroke cognition because so many of the standard cognitive assessments rely on language ability. Our primary objective was to examine the association between performance on cognitive tests and performance on comprehension and naming tests in poststroke aphasia. Second, we aimed to determine the association between language performance and a real-life measure of cognition (Kettle Test). Third, we explored the feasibility of administering cognitive tests in aphasia...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28529269/possible-role-of-ppar%C3%AE-in-the-negative-regulation-of-ovulatory-cascade-and-luteal-development-in-rats
#16
Ryohei Funahashi, Takanobu Sakamoto, Norihito Taguchi, Ryosuke Naiki, Ryota Terashima, Mitsumori Kawaminami, Shiro Kurusu
Peroxisome proliferator-activated receptor γ (PPARγ), a member of a nuclear receptor family, has been shown to be implicated in various reproductive processes. Here, we evaluated possible roles of PPARγ in ovulation and luteal development in a gonadotropins-primed immature rat model. Immunoreactive PPARγ was expressed in granulosa cells of eCG-stimulated mature follicles, and its expression level decreased following ovulatory hCG stimulus. Intra-bursal treatment with rosiglitazone (a PPARγ agonist) simultaneously with subcutaneously administered hCG blocked the induction of cyclooxygenase-2 and steroidogenic acute regulatory protein (StAR) in preovulatory follicles...
May 19, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28528174/prenatal-exposure-to-di-n-butyl-phthalate-disrupts-the-development-of-adult-leydig-cells-in-male-rats-during-puberty
#17
Xiaomin Chen, Linxi Li, Huitao Li, Hongguo Guan, Yaoyao Dong, Xiaoheng Li, Qiufan Wang, Qingquan Lian, Guoxin Hu, Ren-Shan Ge
Fetal exposure to di-n-butyl phthalate (DBP) causes the adult disease such as lower testosterone production and infertility. However, the mechanism is still unknown. The objective of the present study is to determine how DBP affects the involution of fetal Leydig cells during the neonatal period and how this event causes the delayed development of the adult Leydig cells during puberty. The pregnant Sprague Dawley dams were randomly divided into 3 groups and were gavaged with 0 (corn oil, the vehicle control), 100 or 500mg/kg DBP from gestational day 12 (G12) to G21...
May 17, 2017: Toxicology
https://www.readbyqxmd.com/read/28527991/lignosulfonate-stabilized-selenium-nanoparticles-and-their-deposition-on-spherical-silica
#18
Anna Modrzejewska-Sikorska, Emilia Konował, Łukasz Klapiszewski, Grzegorz Nowaczyk, Stefan Jurga, Teofil Jesionowski, Grzegorz Milczarek
We report a novel room-temperature synthesis of selenium nanoparticles, which for the first time uses lignosulfonate as a stabilizer. Various lignosulfonates obtained both from hardwood and softwood were tested. Selenium oxide was used as the precursor of zero-valent selenium. Three different reducers were tested - sodium borohydride, hydrazine and ascorbic acid - and the latter proved most effective in terms of the particle size and stability of the final colloid. The lignosulfonate-stabilized selenium nanoparticles had a negative zeta potential, dependent on pH, which for some lignosulfonates reached -50mV, indicating the excellent stability of the colloid...
May 17, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28527892/outbreak-of-zika-virus-infection-in-singapore-an-epidemiological-entomological-virological-and-clinical-analysis
#19
(no author information available yet)
BACKGROUND: An outbreak of Zika virus infection was detected in Singapore in August, 2016. We report the first comprehensive analysis of a national response to an outbreak of Zika virus infection in Asia. METHODS: In the first phase of the outbreak, patients with suspected Zika virus infection were isolated in two national referral hospitals until their serum tested negative for the virus. Enhanced vector control and community engagement measures were deployed in disease clusters, including stepped-up mosquito larvicide and adulticide use, community participation in source reduction (destruction of mosquito breeding sites), and work with the local media to promote awareness of the outbreak...
May 17, 2017: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/28527888/tetrameric-structure-of-the-flagellar-cap-protein-flid-from-serratia-marcescens
#20
So Yeon Cho, Wan Seok Song, Ho Jeong Hong, Geun-Shik Lee, Seung Goo Kang, Hyun-Jeong Ko, Pyeung-Hyeun Kim, Sung-Il Yoon
Bacterial motility is provided by the flagellum. FliD is located at the distal end of the flagellum and plays a key role in the insertion of each flagellin protein at the growing tip of the flagellar filament. Because FliD functions as an oligomer, the determination of the oligomeric state of FliD is critical to understanding the molecular mechanism of FliD-mediated flagellar growth. FliD has been shown to adopt a pentameric or a hexameric structure depending on the bacterial species. Here, we report another distinct oligomeric form of FliD based on structural and biochemical studies...
May 17, 2017: Biochemical and Biophysical Research Communications
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