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Hassol Lim, Young-Mi Park, Jong-Keuk Lee, Hyun Taek Lim
OBJECTIVE: To present an efficient and successful application of a single-exome sequencing study in a family clinically diagnosed with X-linked retinitis pigmentosa. DESIGN: Exome sequencing study based on clinical examination data. PARTICIPANTS: An 8-year-old proband and his family. METHODS: The proband and his family members underwent comprehensive ophthalmologic examinations. Exome sequencing was undertaken in the proband using Agilent SureSelect Human All Exon Kit and Illumina HiSeq 2000 platform...
October 2016: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
Kai Yang, Gangfeng Liu, Jihong Yan, Tao Wang, Xinbin Zhang, Jie Zhao
The highly efficient and agile water-surface locomotion of water striders has attracted substantial research attention. Compared with imitating the horizontal rowing motion, imitating the jumping capability of water striders is much more challenging because the strong interaction in the jumping process easily causes the robot to sink. This study focuses on designing a miniature robot capable of continuously jumping on the water surface. A spring-based actuating mechanism is proposed to produce a large jumping force...
October 21, 2016: Bioinspiration & Biomimetics
Muhammad I Naseer, Adeel G Chaudhary, Mahmood Rasool, Gauthaman Kalamegam, Fai T Ashgan, Mourad Assidi, Farid Ahmed, Shakeel A Ansari, Syed Kashif Zaidi, Mohammed M Jan, Mohammad H Al-Qahtani
BACKGROUND: Epilepsy is genetically complex but common brain disorder of the world affecting millions of people with almost of all age groups. Novel Copy number variations (CNVs) are considered as important reason for the numerous neurodevelopmental disorders along with intellectual disability and epilepsy. DNA array based studies contribute to explain a more severe clinical presentation of the disease but interoperation of many detected CNVs are still challenging. RESULTS: In order to study novel CNVs with epilepsy related genes in Saudi family with six affected and two normal individuals with several forms of epileptic seizures, intellectual disability (ID), and minor dysmorphism, we performed the high density whole genome Agilent sure print G3 Hmn CGH 2x 400 K array-CGH chips analysis...
October 17, 2016: BMC Genomics
Sandra A Heldstab, Carel P van Schaik, Karin Isler
Humans stand out among non-aquatic mammals by having both an extremely large brain and a relatively large amount of body fat. To understand the evolution of this human peculiarity we report a phylogenetic comparative study of 120 mammalian species, including 30 primates, using seasonal variation in adult body mass as a proxy of the tendency to store fat. Species that rely on storing fat to survive lean periods are expected to be less active because of higher costs of locomotion and have increased predation risk due to reduced agility...
November 2016: Journal of Human Evolution
Ikram Bezrati, Raouf Hammami, Mohamed Kacem Ben Fradj, Domenico Martone, Johnny Padulo, Moncef Feki, Anis Chaouachi, Naziha Kaabachi
Vitamin D is thought to regulate skeletal muscle function and boost physical performance. The aim of this study was to assess the relationship between vitamin D and physical performance in physically active children. This cross-sectional study included 125 children who practice football as a leisure activity. Plasma 25-hydroxyvitamin D (25-OHD) was assessed using a chemiluminescence immunoassay method. Vitamin D inadequacy was defined as 25-OHD < 20 ng/mL. Physical performance testing included measurements of muscle strength (maximal isometric contraction), jumping ability (vertical jump, standing broad jump, triple hop test), linear sprint (10 m and 20 m), and agility (9 × 4-m shuttle run)...
July 13, 2016: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
Adnan A Kadi, Hany W Darwish, Mohamed W Attwa, Sawsan M Amer
In the current work, a rapid, specific, sensitive and validated liquid chromatography tandem mass-spectrometric method was developed for the quantification of ponatinib (PNT) in human plasma and rat liver microsomes (RLMs) with its application to metabolic stability. Chromatographic separation of PNT and vandetanib (IS) were accomplished on Agilent eclipse plus C18 analytical column (50 mm × 2.1 mm, 1.8 μm particle size) maintained at 21±2°C. Flow rate was 0.25 mLmin-1 with run time of 4 min. Mobile phase consisted of solvent A (10 mM ammonium formate, pH adjusted to 4...
2016: PloS One
N Aleksandrova, E Shubina, A Ekimov, T Kodyleva, I Mukosey, N Makarova, E Kulakova, L Levkov, D Trofimov, G Sukhikh
Chromosomal aneuploidies are known for being the main cause of abnormal development of embryos with normal morphology, their implantation failure and early reproductive losses in IVF treatments. Preimplantation genetic screening (PGS) allows selecting embryos with normal chromosomal content and increases IVF treatment efficiency due to higher implantation rates and less frequent early pregnancy losses. New technologies used for PGS allow making genome-wide analysis of the presence of all chromosomes in embryos...
October 2016: Gynecological Endocrinology
Lingyan Tao, Qing Zhang, Yongjiang Wu, Xuesong Liu
In this study, a fast and effective high-performance liquid chromatography method was developed to obtain a fingerprint chromatogram and quantitative analysis simultaneously of four indexes including gallic acid, chlorogenic acid, albiflorin and paeoniflorin of the traditional Chinese medicine Moluodan Concentrated Pill. The method was performed by using a Waters X-bridge C18 reversed phase column on an Agilent 1200S high-performance liquid chromatography system coupled with diode array detection. The mobile phase of the high-performance liquid chromatography method was composed of 20 mmol...
October 19, 2016: Journal of Separation Science
Atsushi Imai, Koji Kaneoka
BACKGROUND: Although it is believed that trunk function is important for athletic performance, few researchers have demonstrated a significant relationship between the trunk function and athletic performance. Recently, the prone plank and side plank tests have been used to assess trunk function. PURPOSE: The purpose of this study was to investigate the relationships between trunk endurance plank tests and athletic performance tests, including whether there is a relationship between long distance running and trunk endurance plank tests in adolescent male soccer players...
October 2016: International Journal of Sports Physical Therapy
Jerôme Montfort, Aurelie Le Cam, Jean-Charles Gabillard, Pierre-Yves Rescan
BACKGROUND: Muscle fibre hyperplasia stops in most fish when they reach approximately 50 % of their maximum body length. However, new small-diameter muscle fibres can be produced de novo in aged fish after muscle injury. Given that virtually nothing is known regarding the transcriptional mechanisms that regulate regenerative myogenesis in adult fish, we explored the temporal changes in gene expression during trout muscle regeneration following mechanical crushing. Then, we compared the gene transcription profiles of regenerating muscle with the previously reported gene expression signature associated with muscle fibre hyperplasia...
October 18, 2016: BMC Genomics
Svetlana N Tamkovich, Natalia A Kirushina, Vladimir E Voytsitskiy, Vsevolod A Tkachuk, Pavel P Laktionov
Size and termini of cell-free DNA molecules circulating in blood plasma and being bound with blood cell surface of healthy females and untreated breast cancer patients were investigated. The size and concentration of circulating blood DNA were analyzed by Agilent 2100 Bioanalyser (TM) and TaqMan PCR. The termini of circulating DNA were examined by ligation using biotinylated double-stranded oligonucleotide adapters with random 1-3 b overhangs of both chains and subsequent quantification by PCR. Short (180 bp) and longer (>8 kbp) DNA fragments were found in cell free DNA from both groups, but short were less represented in primary breast cancer patient plasma...
2016: Advances in Experimental Medicine and Biology
Quan Xu, Xiaoqiang Su, Chunmei Ouyang, Ningning Xu, Wei Cao, Yuping Zhang, Quan Li, Cong Hu, Jianqiang Gu, Zhen Tian, Abul K Azad, Jiaguang Han, Weili Zhang
Recently reported active metamaterial analogues of electromagnetically induced transparency (EIT) are promising in developing novel optical components, such as active slow light devices. However, most of the previous works have focused on manipulating the EIT resonance strength at a fixed characteristic frequency and, therefore, realized on-to-off switching responses. To further extend the functionalities of the EIT effect, here we present a frequency tunable EIT analogue in the terahertz regime by integrating photoactive silicon into the metamaterial unit cell...
October 1, 2016: Optics Letters
Erika Zemková
The purpose of this study was to develop an Agility Index (AI), plus related methodology, for representing and quantifying the data variability of agility performance, incorporating varied stimuli number and traveling distances. A group of 84 physically fit subjects performed the agility test. Their task was to touch, with either the left or the right foot, one of four mats according to the location of a stimulus in one of the corners of the screen. Results showed no significant changes in agility time during 60 responses, when subjects traveled a distance of 0...
September 27, 2016: Journal of Strength and Conditioning Research
C M Inness, K L Morgan
Polo, one of the world's oldest sports, is played in over 80 countries. It is unique in combining the skills of a person with the agility and performance of an animal in a contact sport. There is only one report of the frequency and type of injuries in this population. Here we report risk perception, mitigation and risk factors for injuries and falls in UK polo players. Data were collected retrospectively from a random sample of 112 UK polo players by telephone questionnaire. Injuries (commonly to a shoulder or wrist) requiring a hospital visit were sustained by 17...
December 2015: Sports Medicine—Open
Kevin Patrick, Eric B Hekler, Deborah Estrin, David C Mohr, Heleen Riper, David Crane, Job Godino, William T Riley
This paper addresses the rapid pace of change in the technologies that support digital interventions; the complexity of the health problems they aim to address; and the adaptation of scientific methods to accommodate the volume, velocity, and variety of data and interventions possible from these technologies. Information, communication, and computing technologies are now part of every societal domain and support essentially every facet of human activity. Ubiquitous computing, a vision articulated fewer than 30 years ago, has now arrived...
November 2016: American Journal of Preventive Medicine
Lauren D Wu, L Renee Ruhaak, Carlito B Lebrilla
Human milk oligosaccharides (HMOs) are a highly abundant constituent in human milk, and its protective and prebiotic properties have attracted considerable attention. HMOs have been shown to directly and indirectly benefit the overall health of the infant due to a number of functions including serving as a beneficial food for gut bacteria, block to pathogens, and aiding in brain development. Researchers are currently exploring whether these structures may act as possible disease and nutrition biomarkers. Because of this, rapid-throughput methods are desired to investigate biological activity in large patient sets...
2017: Methods in Molecular Biology
Salwa Mansur Ali, Ruqaiyyah Siddiqui, Seng-Kai Ong, Muhammad Raza Shah, Ayaz Anwar, Peter J Heard, Naveed Ahmed Khan
Infectious diseases remain a significant threat to human health, contributing to more than 17 million deaths, annually. With the worsening trends of drug resistance, there is a need for newer and more powerful antimicrobial agents. We hypothesized that animals living in polluted environments are potential sources of antimicrobials. Under polluted milieus, organisms such as cockroaches encounter different types of microbes, including superbugs. Such creatures survive the onslaught of superbugs and are able to ward off disease by producing antimicrobial substances...
October 14, 2016: Applied Microbiology and Biotechnology
Sutanu Dutta Chowdhury, Brian H Wrotniak, Tusharkanti Ghosh
The purpose of this study was to evaluate the relationship between body mass index and motor competence in Santal children 5-12 years old. A total of 816 Santal children were studied. Children's adiposity status was assessed by body mass index (BMI) for age z-score based on World Health Organization reference data. Motor competence was measured using the Bruininks-Oseretsky Test of Motor Competence (BOT-2). There was no significant difference in mean BMI z-score between Santal boys (0.13 ± 0.07) and girls (-0...
October 14, 2016: Journal of Motor Behavior
Jin-Jin Lu, Bing-Jie Jia, Lin Yang, Wen Zhang, Xin Dong, Ping Li, Jun Chen
It has been proved that the purine metabolic pathway has been implicated in various biological disorders including gout, diabetes, coronary heart diseases, and neurodegenerative diseases. The analysis of the purine metabolic pathway in organisms reveals important alterations under different physiological and pathological conditions, which contributes to the pathological study, diagnosis, and therapy of related diseases. In the present study, an ultra-high performance liquid chromatography with ultraviolet and tandem mass spectrometry (UHPLC-UV-MS/MS) method was developed for conducting the comprehensive analysis of the metabolite profiles of the purine pathway in rat plasma through a single analysis...
September 28, 2016: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
Abbas Asadi, Rodrigo Ramírez-Campillo, Cesar Meylan, Fabio Y Nakamura, Rodrigo Cañas-Jamet, Mikel Izquierdo
BACKGROUND: To compare maximal-intensity exercise adaptations in young basketball players (who were strong individuals at baseline) participating in regular basketball training versus regular plus a volume-based plyometric training program in the pre-season period. METHODS: Young basketball players were recruited and assigned either to a plyometric with regular basketball training group (Experimental group [EG]; n = 8), or a basketball training only group (Control group [CG]; n = 8)...
October 13, 2016: Journal of Sports Medicine and Physical Fitness
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