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Haggai Schermann, Erin Craig, Einat Yanovich, Itay Ketko, Gary Kalmanovich, Ran Yanovich
CONTEXT:   The heat-tolerance test (HTT) is a screening tool for secondary prevention of exertional heat illness by the Israel Defense Forces. To discern participant tolerance, recruits are exposed to intermediate environmental and exercise stresses, and their physiological responses, core temperature, and heart rate are monitored. When their physiological measures rise at a higher rate or exceed the upper levels of absolute values compared with other participants, heat intolerance (HI) is diagnosed...
April 2018: Journal of Athletic Training
Michael J Chao, Kyung-Hee Kim, Jun Wan Shin, Diane Lucente, Vanessa C Wheeler, Hong Li, Jared C Roach, Leroy Hood, Nancy S Wexler, Laura B Jardim, Peter Holmans, Lesley Jones, Michael Orth, Seung Kwak, Marcy E MacDonald, James F Gusella, Jong-Min Lee
Modifiers of Mendelian disorders can provide insights into disease mechanisms and guide therapeutic strategies. A recent genome-wide association (GWA) study discovered genetic modifiers of Huntington's disease (HD) onset in Europeans. Here, we performed whole genome sequencing and GWA analysis of a Venezuelan HD cluster whose families were crucial for the original mapping of the HD gene defect. The Venezuelan HD subjects develop motor symptoms earlier than their European counterparts, implying the potential for population-specific modifiers...
May 11, 2018: PLoS Genetics
Jody Corey-Bloom, Ameera S Haque, Sungmee Park, Ajay S Nathan, Robert W Baker, Elizabeth A Thomas
Patients with Huntington's disease (HD), an autosomal-dominant neurodegenerative disease, show substantial variability in age-of-onset, symptom severity and course of illness, warranting the need for biomarkers to anticipate and monitor these features. The HD gene encodes the disease protein huntingtin (Htt), a potentially useful biomarker for this disease. In the current study, we determined whether total Htt protein (normal plus mutant; "tHtt") could be reliably measured in human saliva, a body fluid that is much more accessible compared to cerebral spinal fluid or even blood, and whether salivary levels of tHtt were clinically meaningful...
May 9, 2018: Scientific Reports
N Ahmad Aziz, Jorien M M van der Burg, Sarah J Tabrizi, G Bernhard Landwehrmeyer
OBJECTIVE: A fundamental but still unresolved issue regarding Huntington disease (HD) pathogenesis is whether the factors that determine age at onset are the same as those that govern disease progression. Because elucidation of this issue is crucial for the development as well as optimal timing of administration of novel disease-modifying therapies, we aimed to assess the extent of overlap between age-at-onset and disease-progression determinants in HD. METHODS: Using observational data from Enroll-HD, the largest cohort of patients with HD worldwide, in this study we present, validate, and apply an intuitive method based on linear mixed-effect models to quantify the variability in the rate of disease progression in HD...
May 9, 2018: Neurology
Omar R Harvey, Burke C Leonce, Bruce E Herbert
Biogeochemical functioning of oxides and pyrogenic organic matter (pyOM) are greatly influenced by surface and deprotonation characteristics. We present an energetics-based, logistic modeling approach for quantifying surface homogeneity (ϕ_surf) and surface acidity (pKa, surf) for Bronsted-type surfaces. The ϕ_surf, pKa, surf and associated deprotonation behavior of pyOM were quantified across feedstock (honey mesquite-HM, pine - PI, cord grass - CG) and heat-treatment-temperatures (HTT; 200-650 oC). At HTT200, lower ϕ_surf [HM (0...
May 2, 2018: Environmental Science & Technology
Chaohua Peng, Gaochun Zhu, Xiangqian Liu, He Li
Huntington's disease (HD) is a neurodegenerative disease caused by a polyglutamine expansion in the huntingtin (Htt) protein. Mutant Htt causes synaptic transmission dysfunctions by interfering in the expression of synaptic proteins, leading to early HD symptoms. Synaptic vesicle proteins 2 (SV2s), a family of synaptic vesicle proteins including 3 members, SV2A, SV2B, and SV2C, plays important roles in synaptic physiology. Here, we investigated whether the expression of SV2s is affected by mutant Htt in the brains of HD transgenic (TG) mice and Neuro2a mouse neuroblastoma cells (N2a cells) expressing mutant Htt...
April 30, 2018: Neuroscience Bulletin
Ke Sun, Mengyi Qiu, Lanfang Han, Jie Jin, Ziying Wang, Zezhen Pan, Baoshan Xing
Phosphorus (P) in biochar serves as both a P source for plant growth and a contributor to water eutrophication, thus prioritizing the efficient management of P in biochar. This study employed solid- and solution- state 31 P-nuclear magnetic resonance and X-ray diffraction analyses to explore the impact of feedstock and heating treatment temperature (HTT) on P species of biochars. The effects of ambient temperature, coexisting anions, pH and nutrient solution on P release were also investigated to study the effect of various environmental factors on P release from biochars...
April 13, 2018: Science of the Total Environment
Raffaella De Pace, Miguel Skirzewski, Markus Damme, Rafael Mattera, Jeffrey Mercurio, Arianne M Foster, Loreto Cuitino, Michal Jarnik, Victoria Hoffmann, H Douglas Morris, Tae-Un Han, Grazia M S Mancini, Andrés Buonanno, Juan S Bonifacino
The hereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous group of disorders characterized by progressive lower limb spasticity. Mutations in subunits of the heterotetrameric (ε-β4-μ4-σ4) adaptor protein 4 (AP-4) complex cause an autosomal recessive form of complicated HSP referred to as "AP-4 deficiency syndrome". In addition to lower limb spasticity, this syndrome features intellectual disability, microcephaly, seizures, thin corpus callosum and upper limb spasticity...
April 26, 2018: PLoS Genetics
Daniel D Child, John H Lee, Christine J Pascua, Yong Hong Chen, Alejandro Mas Monteys, Beverly L Davidson
Huntington's disease (HD) is a dominantly inherited neurological disorder caused by CAG-repeat expansion in exon 1 of Huntingtin (HTT). But in addition to the neurological disease, mutant HTT (mHTT), which is ubiquitously expressed, impairs other organ systems. Indeed, epidemiological and animal model studies suggest higher incidence of and mortality from heart disease in HD. Here, we show that the protein complex mTORC1 is dysregulated in two HD mouse models through a mechanism that requires intrinsic mHTT expression...
April 24, 2018: Cell Reports
Wenlei Wang, Fei Teng, Yinghui Lin, Dehua Ji, Yan Xu, Changsheng Chen, Chaotian Xie
Pyropia haitanensis, a high-yield commercial seaweed in China, is currently undergoing increasing levels of high-temperature stress due to gradual global warming. The mechanisms of plant responses to high temperature stress vary with not only plant type but also the degree and duration of high temperature. To understand the mechanism underlying thermal tolerance in P. haitanensis, gene expression and regulation in response to short- and long-term temperature stresses (SHS and LHS) was investigated by performing genome-wide high-throughput transcriptomic sequencing for a high temperature tolerant strain (HTT)...
2018: PloS One
Ludmila Volozonoka, Dmitry Perminov, Liene Korņejeva, Baiba Alkšere, Natālija Novikova, Evija Jokste Pīmane, Arita Blumberga, Inga Kempa, Anna Miskova, Linda Gailīte, Violeta Fodina
PURPOSE: To compare multiple displacement amplification and OmniPlex whole genome amplification technique performance during array comparative genome hybridization (aCGH), Sanger sequencing, SNaPshot and fragment size analysis downstream applications in frame of multifactor embryo preimplantation genetic testing. METHODS: Preclinical workup included linked short tandem repeat (STR) marker selection and primer design for loci of interest. It was followed by a family haplotyping, after which an in vitro fertilization preimplantation genetic testing (IVF-PGT) cycle was carried out...
April 23, 2018: Journal of Assisted Reproduction and Genetics
Jessica K Lee, Amy Conrad, Eric Epping, Kathy Mathews, Vincent Magnotta, Jeffrey D Dawson, Peg Nopoulos
BACKGROUND: Huntington's Disease (HD) is caused by an abnormality in the HTT gene. This gene includes trinucleotide repeats ranging from 10 to 35, and when expanded beyond 39, causes HD. We previously reported that CAG repeats in the normal range had a direct and beneficial effect on brain development with higher repeats being associated with higher cognitive function. The current study now expands this line of inquiry to evaluate the effects of CAG repeat throughout the entire spectrum of repeats from 15 to 58...
March 30, 2018: EBioMedicine
Alireza Mohammadi, Ehsan Rashidi, Vahid Ghasem Amooeian
Over the last decade, finding a reliable biomarker for the early detection of schizophrenia (Scz) has been a topic of interest. The main goal of the current review is to provide a comprehensive view of the brain, blood, cerebrospinal fluid (CSF), and serum biomarkers of Scz disease. Imaging studies have demonstrated that the volumes of the corpus callosum, thalamus, hippocampal formation, subiculum, parahippocampal gyrus, superior temporal gyrus, prefrontal and orbitofrontal cortices, and amygdala-hippocampal complex were reduced in patients diagnosed with Scz...
April 13, 2018: Psychiatry Research
Bin Pang, Guiji Tang, Tian Tian, Chong Zhou
When rolling bearing failure occurs, vibration signals generally contain different signal components, such as impulsive fault feature signals, background noise and harmonic interference signals. One of the most challenging aspects of rolling bearing fault diagnosis is how to inhibit noise and harmonic interference signals, while enhancing impulsive fault feature signals. This paper presents a novel bearing fault diagnosis method, namely an improved Hilbert time-time (IHTT) transform, by combining a Hilbert time-time (HTT) transform with principal component analysis (PCA)...
April 14, 2018: Sensors
F Jiménez-Trejo, I Coronado-Mares, M Boeta, I González-Santoyo, R Vigueras-Villaseñor, C Arriaga-Canon, L Herrera-Montalvo, M Tapia-Rodríguez
Assisted reproductive techniques have been used on several domestic animals to preserve desirable traits in strains of high genetic and commercial value; however in equines its efficiency rate is relatively low. To increase the conception ratio in stallions, some research groups have used pharmacological treatments which promote sperm hyperactivation in order to increase male's fertility rates. In this way, our previous work suggests that serotonin (5-HT) could be a good pharmacological candidate that facilitates conception rate in domestic horses...
April 16, 2018: Histology and Histopathology
Jacob Ellegood, Yohan Yee, Travis M Kerr, Christopher L Muller, Randy D Blakely, R Mark Henkelman, Jeremy Veenstra-VanderWeele, Jason P Lerch
Background: The serotonin (5-HT) system has long been implicated in autism spectrum disorder (ASD) as indicated by elevated whole blood and platelet 5-HT, altered platelet and brain receptor and transporter binding, and genetic linkage and association findings. Based upon work in genetically modified mice, 5-HT is known to influence several aspects of brain development, but systematic neuroimaging studies have not previously been reported. In particular, the 5-HT transporter (serotonin transporter, SERT; 5-HTT) gene, Slc6a4 , has been extensively studied...
2018: Molecular Autism
Jingyu Liu, Jennifer Ciarochi, Vince D Calhoun, Jane S Paulsen, H Jeremy Bockholt, Hans J Johnson, Jeffrey D Long, Dongdong Lin, Flor A Espinoza, Maria B Misiura, Arvind Caprihan, Jessica A Turner
Huntington's disease (HD) is a neurodegenerative disorder caused by an expansion mutation of the cytosine-adenine-guanine (CAG) trinucleotide in the HTT gene. Decline in cognitive and motor functioning during the prodromal phase has been reported, and understanding genetic influences on prodromal disease progression beyond CAG will benefit intervention therapies. From a prodromal HD cohort ( N  = 715), we extracted gray matter (GM) components through independent component analysis and tested them for associations with cognitive and motor functioning that cannot be accounted for by CAG-induced disease burden (cumulative effects of CAG expansion and age)...
2018: Frontiers in Neurology
Arianna Novati, Thomas Hentrich, Zinah Wassouf, Jonasz J Weber, Libo Yu-Taeger, Nicole Déglon, Huu Phuc Nguyen, Julia M Schulze-Hentrich
Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by a mutation in the huntingtin (HTT) gene which results in progressive neurodegeneration in the striatum, cortex, and eventually most brain areas. Despite being a monogenic disorder, environmental factors influence HD characteristics. Both human and mouse studies suggest that mutant HTT (mHTT) leads to gene expression changes that harbor potential to be modulated by the environment. Yet, the underlying mechanisms integrating environmental cues into the gene regulatory program have remained largely unclear...
April 11, 2018: Scientific Reports
Juan Yang, Jun You, Jun Dai, Yumei Chen, Yao Li
Hydrogen titanate nanotube (HTT)/graphene nanocomposites are synthesized by hydrothermal reduction of graphene oxide (GO) and simultaneous preparation of nanotubular HTT via an alkaline hydrothermal process. By using this facile in-situ compositing strategy, HTT are densely supported upon the surface of graphene sheets with close interface contacts. The as-prepared HTT/graphene nanocomposites possess significantly enhanced visible light catalytic activity for the partial oxidation of benzylic alcohols. The amount of graphene has significant influence on catalytic activity and the optimal content of graphene is 1...
April 8, 2018: Nanomaterials
Pratiksha Chheda, Milind Chanekar, Yogita Salunkhe, Tavisha Dama, Anurita Pais, Shailesh Pande, Rajesh Bendre, Nilesh Shah
BACKGROUND: Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder with an average age at onset of 40 years. It is a polyglutamine (polyQ) disorder that is caused by an increase in the number of CAG repeats in the huntingtin (HTT) gene. Genetic tests that accurately determine the number of CAG repeats are performed for confirmation of diagnosis, predictive testing of persons at genetic risk for inheriting HD, and prenatal testing. The aim of our study was to evaluate efficacy of triplet-primed polymerase chain reaction (TP-PCR) for routine diagnosis of HD in suspected cases from India...
April 4, 2018: Molecular Diagnosis & Therapy
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