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https://www.readbyqxmd.com/read/28651334/tsgsis-a-high-dimensional-grouped-variable-selection-approach-for-detection-of-whole-genome-snp-snp-interactions
#1
Yao-Hwei Fang, Jie-Huei Wang, Chao A Hsiung
Motivation: Identification of single nucleotide polymorphism (SNP) interactions is an important and challenging topic in genome-wide association studies (GWAS). Many approaches have been applied to detecting whole-genome interactions. However, these approaches to interaction analysis tend to miss causal interaction effects when the individual marginal effects are uncorrelated to trait, while their interaction effects are highly associated with the trait. Results: A grouped variable selection technique, called two-stage grouped sure independence screening (TS-GSIS), is developed to study interactions that may not have marginal effects...
June 23, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28650879/novel-angular-measures-of-cervical-deformity-account-for-upper-cervical-compensation-and-sagittal-alignment
#2
Themistocles S Protopsaltis, Renaud Lafage, Shaleen Vira, Daniel Sciubba, Alex Soroceanu, Kojo Hamilton, Justin Smith, Peter G Passias, Gregory Mundis, Robert Hart, Frank Schwab, Eric Klineberg, Christopher Shaffrey, Virginie Lafage, Christopher Ames
STUDY DESIGN: This is a retrospective review of a prospective multicenter database. OBJECTIVE: This study introduces 2 new cervical alignment measures accounting for both cervical deformity (CD) and upper cervical compensation. SUMMARY OF BACKGROUND DATA: Current descriptions of CD like the C2-C7 sagittal vertical axis (cSVA) do not account for compensatory mechanisms such as C0-C2 lordosis and pelvic tilt, which makes surgical planning difficult...
June 23, 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28648650/planning-execution-and-follow-up-for-endovascular-aortic-aneurysm-repair-using-a-highly-restrictive-iodinated-contrast-protocol-in-patients-with-severe-renal-disease
#3
E Gallitto, G L Faggioli, M Gargiulo, A Freyrie, R Pini, C Mascoli, S Ancetti, V Vento, A Stella
BACKGROUND: The cumulative amount of iodinated-contrast-medium necessary for EVAR planning, operative procedure and subsequent follow-up is a threat for the onset of end stage renal disease in patients with pre-operative impaired kidney function. Purpose of this study is to describe a mini-invasive approach aimed to minimize the exposure of these patients to iodinated-contrast-medium and the subsequent risk of renal function worsening. METHODS: From 2012 to 2015, all patients with abdominal aortic aneurysm (AAA) at high-surgical risk and fit for standard endovascular repair (simple aortic-iliac anatomy: proximal and distal neck length ≥15mm, no severe angulation), underwent EVAR through the following "near-zero contrast" approach, if their glomerular filtration rate (GFR) was <30 mL/min: pre-operative planning was performed by non-contrast enhanced computed tomography (CT) and duplex-ultrasound (DU); the origin of renal/hypogastric arteries and aortic bifurcation was evaluated and matched with vertebral bone landmarks and the endograft deployed accordingly, using < 20cc of isotonic iodinate-contrast-medium and contrast-enhancement-DU (CEUS)...
June 22, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28647950/turner-syndrome-care-of-the-patient-birth-to-late-adolescence
#4
Denise Gruccio Paolucci, Vaneeta Bamba
Turner syndrome (TS) is a genetic condition occurring in females resulting from the loss of part or all of one of the X chromosomes. The two hallmark features of Turner syndrome include short stature and primary ovarian insufficiency. In addition, Turner syndrome can involve multiple healthcare issues including cardiac and renal anomalies, autoimmune disorders, hearing loss, ophthalmologic issues, bone anomalies, dermatologic issues and psychosocial and educational concerns. The presenting signs of Turner syndrome can vary markedly, leading to delayed or even missed diagnosis...
June 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28647555/normalizing-the-gene-dosage-of-dyrk1a-in-a-mouse-model-of-down-syndrome-rescues-several-alzheimer-s-disease-phenotypes
#5
Susana García-Cerro, Noemí Rueda, Verónica Vidal, Sara Lantigua, Carmen Martínez-Cué
The intellectual disability that characterizes Down syndrome (DS) is primarily caused by prenatal changes in central nervous system growth and differentiation. However, in later life stages, the cognitive abilities of DS individuals progressively decline due to accelerated aging and the development of Alzheimer's disease (AD) neuropathology. The AD neuropathology in DS has been related to the overexpression of several genes encoded by Hsa21 including DYRK1A (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A), which encodes a protein kinase that performs crucial functions in the regulation of multiple signaling pathways that contribute to normal brain development and adult brain physiology...
June 21, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28647283/optimal-cooling-strategies-for-players-in-australian-tennis-open-conditions
#6
Grant P Lynch, Julien D Périard, Babette M Pluim, John R Brotherhood, Ollie Jay
OBJECTIVES: We compared the utility of four cooling interventions for reducing heat strain during simulated tennis match-play in an environment representative of the peak conditions possible at the Australian Open (45°C, <10% RH, 475W/m(2) solar radiation). DESIGN: Nine trained males undertook four trials in a climate chamber, each time completing 4 sets of simulated match-play. METHODS: During ITF-mandated breaks (90-s between odd-numbered games; 120-s between sets), either iced towels (ICE), an electric fan (FANdry), a fan with moisture applied to the skin (FANwet), or ad libitum 10°C water ingestion only (CON) was administered...
May 25, 2017: Journal of Science and Medicine in Sport
https://www.readbyqxmd.com/read/28646795/offsetting-the-impact-of-smoking-and-e-cigarette-vaping-on-the-cerebrovascular-system-and-stroke-injury-is-metformin-a-viable-countermeasure
#7
Mohammad A Kaisar, Heidi Villalba, Shikha Prasad, Taylor Liles, Ali Ehsan Sifat, Ravi K Sajja, Thomas J Abbruscato, Luca Cucullo
Recently published in vitro and in vivo findings strongly suggest that BBB impairment and increased risk for stroke by tobacco smoke (TS) closely resemble that of type-2 diabetes (2DM) and develop largely in response to common key modulators such oxidative stress (OS), inflammation and alterations of the endogenous antioxidative response system (ARE) regulated by the nuclear factor erythroid 2-related factor (Nrf2). Preclinical studies have also shown that nicotine (the principal e-liquid's ingredient used in e-cigarettes) can also cause OS, exacerbation of cerebral ischemia and secondary brain injury...
June 17, 2017: Redox Biology
https://www.readbyqxmd.com/read/28646637/ts-gene-polymorphisms-correlate-with-susceptibility-to-acute-lymphocytic-leukemia-in-children
#8
Runyin Zou, Xiangling He, Yanpeng Wu, Xin Tian, Yalan You, Mincui Zheng, Wanli Li, Hui Zou, Hua Liu, Xiujuan Zhu, Chengguang Zhu
BACKGROUND Acute lymphocytic leukemia (ALL) in children is a clonal disease of bone marrow hematopoietic stem cells. This study aimed to explore the associations between MTHFR or TS genetic polymorphisms and susceptibility to acute lymphocytic leukemia (ALL) in children. MATERIAL AND METHODS This case-control study included 79 ALL patients (case group) and 102 non-ALL patients (control group). Post-PCR genomic DNA sequencing revealed MTHFR C677T and MTHFR A1298C genotypes and TS polymorphisms. The χ² test was used to compare differences in MTHFR and TS polymorphisms (including genotypic and allelic distributions) between groups...
June 24, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28646232/inhibition-of-erk1-2-restores-gsk3%C3%AE-activity-and-protein-synthesis-levels-in-a-model-of-tuberous-sclerosis
#9
Rituraj Pal, Vitaliy V Bondar, Carolyn J Adamski, George G Rodney, Marco Sardiello
Tuberous sclerosis (TS) is a multi-organ autosomal dominant disorder that is best characterized by neurodevelopmental deficits and the presence of benign tumors. TS pathology is caused by mutations in tuberous sclerosis complex (TSC) genes and is associated with insulin resistance, decreased glycogen synthase kinase 3β (GSK3β) activity, activation of the mammalian target of rapamycin complex 1 (mTORC1), and subsequent increase in protein synthesis. Here, we show that extracellular signal-regulated kinases (ERK1/2) respond to insulin stimulation and integrate insulin signaling to phosphorylate and thus inactivate GSK3β, resulting in increased protein synthesis that is independent of Akt/mTORC1 activity...
June 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28645914/bile-salt-homeostasis-in-normal-and-bsep-gene-knock-out-rats-with-single-and-repeated-doses-of-troglitazone
#10
Yaofeng Cheng, Shenjue Chen, Chris Freeden, Weiqi Chen, Yueping Zhang, Pamela Abraham, David Nelson, William G Humphreys, Jinpin Gan, Yurong Lai
The interference of bile acid secretion through bile salt export pump (BSEP) inhibition was one of the mechanisms for troglitazone (TGZ) induced hepatotoxicity. Here we investigated the impact of single or repeated oral doses of TGZ (200 mg/kg/day, 7 days) on bile acid homoeostasis in wild-type (WT) and Bsep KO rats. Following oral doses, plasma exposures of TGZ were not different between WT and KO rats, and were similar on Day-1 and Day-7. However, plasma exposures of the major metabolite, troglitazone sulfate (TS), in KO rats were 7...
June 23, 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/28644369/european-society-for-pediatric-gastroenterology-hepatology-and-nutrition-s-educational-offer-and-the-training-syllabus
#11
Marco Maglione, Daniela Finizio, Gabor Veres, Tudor Lucian Pop, Grazia Isabella Continisio, Alexandra Papadopoulou, Alfredo Guarino
The basic knowledge necessary for a European pediatric gastroenterologist/hepatologist/nutritionist (PGHN) is set-out in the Training Syllabus (TS) of the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN).We retrospectively compared the topics covered in ESPGHAN's training events between 2013 and 2016 with the basic knowledge TS items.Thirty-six initiatives including e-learning were identified. Twelve (33%) courses focused on gastroenterology, 9 (25%) on hepatology, and 10 (28%) on nutrition...
June 21, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28642576/upregulation-of-mir-223-in-the-rat-liver-inhibits-proliferation-of-hepatocytes-under-simulated-microgravity
#12
Yongjie Chen, Ji Xu, Chao Yang, Hongyu Zhang, Feng Wu, Jian Chen, Kai Li, Hailong Wang, Yu Li, Yinghui Li, Zhongquan Dai
Long-term spaceflight affects numerous organ systems in the body, including metabolic dysfunction. Recently, ample evidence has demonstrated that the liver is a vulnerable organ during spaceflight. However, the changes in hepatocyte proliferation and cell cycle control under microgravity remain largely unexplored. In the present study, we first confirmed that the serum levels of aspartate aminotransferase, alanine aminotransferase and alkaline phosphatase, biochemical markers of liver function, were altered in rats under tail suspension (TS) conditions to simulate microgravity, as shown in previous reports...
June 23, 2017: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/28642183/giant-bi-compartmental-cystic-tentorial-schwannoma-mimicking-a-meningioma
#13
Amandeep Kumar, Manmohan Singh, M C Sharma, P S Chandra, Bhawani S Sharma, Ashok K Mahapatra
BACKGROUND: Intracranial schwannomas most commonly arise from vestibulo-cochlear nerve and less frequently from trigeminal, facial and hypoglossal nerves. However, intracranial schwannomas unrelated to cranial nerves (ISUNs) are very rare and only ∼ 50 such cases have been reported in literature. Amongst these, tentorial schwannomas are even rarer and only 13 cases have been reported till date. We present one such rare case of giant tentorial schwannoma (TS). CASE DESCRIPTION: A 21 year old male patient presented to us with complaints of generalised headache and dizziness for past 6 months and worsening of symptoms for past 2 months...
June 19, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28641773/incidence-of-tonic-spasms-as-the-initial-presentation-of-pediatric-multiple-sclerosis-in-slovenia
#14
Neli Bizjak, Damjan Osredkar, Nuška Pečarič Meglič, Mirjana Perković Benedik
Tonic spasms (TS) are involuntary movement patterns that can present in patients with multiple sclerosis (MS). They have been first described decades ago, but are frequently missed and misdiagnosed, particularly in the pediatric MS patients and if appearing ahead of hallmark neurological signs and symptoms of MS. Slovenia is a country with the population of about 2 million people. In the years from 1992 to 2016, we have treated 57 sequential pediatric patients with MS at our hospital, which is the only tertiary medical institution for treating children with MS in the country...
July 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28641678/cognitive-deterioration-in-moderate-and-severe-hypobaric-hypoxia-conditions
#15
Jeremy M A Beer, Barry S Shender, Daren Chauvin, Todd S Dart, Joseph Fischer
BACKGROUND: Hypoxia continues to present risks in military aviation. Hypoxia symptoms include sensory and cognitive effects; of these, it is important to identify which components of operator performance are most vulnerable to hypoxia-induced decline in order to determine which sensory modality is most effective for alerting an impaired aviator of an imminent hypoxic episode. METHODS: A study was performed in a hypobaric chamber to characterize deterioration of cognitive performance under moderate (MH) and severe (SH) hypoxia conditions, culminating in subjects' inability to perform tasks...
July 1, 2017: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28641109/rare-copy-number-variants-in-nrxn1-and-cntn6-increase-risk-for-tourette-syndrome
#16
Alden Y Huang, Dongmei Yu, Lea K Davis, Jae Hoon Sul, Fotis Tsetsos, Vasily Ramensky, Ivette Zelaya, Eliana Marisa Ramos, Lisa Osiecki, Jason A Chen, Lauren M McGrath, Cornelia Illmann, Paul Sandor, Cathy L Barr, Marco Grados, Harvey S Singer, Markus M Nöthen, Johannes Hebebrand, Robert A King, Yves Dion, Guy Rouleau, Cathy L Budman, Christel Depienne, Yulia Worbe, Andreas Hartmann, Kirsten R Müller-Vahl, Manfred Stuhrmann, Harald Aschauer, Mara Stamenkovic, Monika Schloegelhofer, Anastasios Konstantinidis, Gholson J Lyon, William M McMahon, Csaba Barta, Zsanett Tarnok, Peter Nagy, James R Batterson, Renata Rizzo, Danielle C Cath, Tomasz Wolanczyk, Cheston Berlin, Irene A Malaty, Michael S Okun, Douglas W Woods, Elliott Rees, Carlos N Pato, Michele T Pato, James A Knowles, Danielle Posthuma, David L Pauls, Nancy J Cox, Benjamin M Neale, Nelson B Freimer, Peristera Paschou, Carol A Mathews, Jeremiah M Scharf, Giovanni Coppola
Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been discovered to date. We analyzed a European ancestry sample of 2,434 TS cases and 4,093 ancestry-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data. We observed an enrichment of global CNV burden that was prominent for large (> 1 Mb), singleton events (OR = 2...
June 21, 2017: Neuron
https://www.readbyqxmd.com/read/28639559/pressure-induced-superconductivity-in-cras-and-mnp
#17
Jinguang Cheng, Jian Lin Luo
Transition-metal monopnictides, CrAs and MnP, have been studied over fifty years ago due to the presence of interesting magnetic properties: CrAs forms a double-helical magnetic structure below TN ≈ 270 K accompanied with a strong first-order structural transition, while MnP first undergoes a ferromagnetic transition at TC ≈ 290 K and then adopts a similar double-helical order below Ts ≈ 50 K. Both compounds are correlated metals and exhibit distinct anomalies at these characteristic magnetic transitions...
June 22, 2017: Journal of Physics. Condensed Matter: An Institute of Physics Journal
https://www.readbyqxmd.com/read/28637822/pattern-of-pressure-gradient-alterations-after-venous-sinus-stenting-for-idiopathic-intracranial-hypertension-predicts-stent-adjacent-stenosis-a-proposed-classification-system
#18
Daniel Raper, Thomas J Buell, Dale Ding, Ching-Jen Chen, Robert M Starke, Kenneth C Liu
OBJECTIVE: Venous sinus stenting (VSS) is a safe and effective treatment for idiopathic intracranial hypertension (IIH) with angiographic venous sinus stenosis. However, predictors of stent-adjacent stenosis (SAS) remain poorly defined. METHODS: We performed a retrospective review of 47 patients with IIH and intracranial venous stenosis who underwent VSS with pre- and post-stent venography. Patient characteristics, treatments and outcomes were reviewed. Changes in pressure gradient after VSS were classified according to pattern of gradient resolution into types I-III...
June 21, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/28637273/gingival-recession-in-mandibular-incisors-and-symphysis-morphology-a-retrospective-cohort-study
#19
Katarina Mazurova, Jean-Baptiste Kopp, Anne Marie Renkema, Nikolaos Pandis, Christos Katsaros, Piotr S Fudalej
Objective: To evaluate if the morphology of the mandibular symphysis is associated with the development of gingival recession. Materials and methods: A cohort of 177 patients was followed longitudinally for up to 5 years post-treatment. Based on the width of the symphysis, participants were divided into three groups: narrow (n = 57); average (n = 63), and wide symphysis (n = 57). Morphology of the symphysis and inclination of incisors were measured on lateral cephalometric radiographs before treatment (Ts), at the end of treatment (T0) and 5 years after treatment (T5)...
June 15, 2017: European Journal of Orthodontics
https://www.readbyqxmd.com/read/28634801/ameliorating-soil-acidity-and-physical-properties-of-two-contrasting-texture-ultisols-with-wastewater-sludge-biochar
#20
Yutong Zong, Yefeng Wang, Ye Sheng, Chengfeng Wu, Shenggao Lu
The production of biochar is a safe and beneficial disposal way for wastewater sludge. The biochar produced from wastewater sludge can be used as soil amendments for improving soil properties and for increasing crop yield. This work investigated the influences of wastewater sludge biochar (WSB) on the pH, exchangeable acidity, and physical properties of strongly acidic Ultisols with contrasting texture (clayey soil and sandy loam). Two soils were mixed with WSB at the rate of 0, 10, 20, and 40 g biochar kg(-1) soil and incubated for 240 days at 75% field water capacity...
June 21, 2017: Environmental Science and Pollution Research International
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