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https://www.readbyqxmd.com/read/28106506/ectodysplasin-a-in-biological-fluids-and-diagnosis-of-ectodermal-dysplasia
#1
J Podzus, C Kowalczyk-Quintas, S Schuepbach-Mallepell, L Willen, G Staehlin, M Vigolo, A Tardivel, D Headon, N Kirby, M L Mikkola, H Schneider, P Schneider
The tumor necrosis factor (TNF) family ligand ectodysplasin A (EDA) is produced as 2 full-length splice variants, EDA1 and EDA2, that bind to EDA receptor (EDAR) and X-linked EDA receptor (XEDAR/EDA2R), respectively. Inactivating mutations in Eda or Edar cause hypohidrotic ectodermal dysplasia (HED), a condition characterized by malformations of the teeth, hair and glands, with milder deficiencies affecting only the teeth. EDA acts early during the development of ectodermal appendages-as early as the embryonic placode stage-and plays a role in adult appendage function...
February 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28105747/virulence-and-genotypes-of-white-spot-syndrome-virus-infecting-pacific-white-shrimp-litopenaeus-vannamei-in-north-western-mexico
#2
J Ramos-Paredes, J M Grijalva-Chon, J C Ibarra-Gámez
White spot syndrome virus (WSSV) has caused substantial global economic impact on aquaculture, and it has been determined that strains can vary in virulence. In this study, the effect of viral load was evaluated by infecting Litopenaeus vannamei with 10-fold serial dilution of tissue infected with strain WSSV Mx-H, and the virulence of four WSSV strains from north-western Mexico was assessed along with their variable number of tandem repeat (VNTR) genotypes in ORF75, ORF94 and ORF125. The LD50 of the Mx-H strain was a dilution dose of 10(-7...
January 20, 2017: Journal of Fish Diseases
https://www.readbyqxmd.com/read/28105131/immunoglobulin-g4-related-acquired-hemophilia-a-case-report
#3
Xiaoyan Li, Wei Duan, Xiang Zhu, Jianying Xu
Acquired hemophilia A (AHA) is a relatively rare and life-threatening bleeding disorder whose pathogenesis is not completely understood. The present study reports a rare case of immunogubulin (IgG)4-related AHA with multisystemic involvement. A 55-year old male patient presented with symptoms of bronchial asthma and multiple subdermal hematomas. Chest computed tomography showed multiple diffuse nodular lesions with thickening of bronchovascular bundles, and scattered high-density spots in both lung lobes. Laboratory investigations showed increased activated partial prothrombin time (120...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28101774/newborn-screening-for-remethylation-disorders-and-vitamin-b12-deficiency-evaluation-of-new-strategies-in-cohorts-from-qatar-and-germany
#4
Gwendolyn Gramer, Ghassan Abdoh, Tawfeg Ben-Omran, Noora Shahbeck, Rehab Ali, Laila Mahmoud, Junmin Fang-Hoffmann, Georg F Hoffmann, Hilal Al Rifai, Jürgen G Okun
BACKGROUND: Newborn screening is a precondition for early diagnosis and succeßsful treatment of remethylation disorders and classical homocystinuria (cystathionine-β-synthase deficiency). Newborn screening for classical homocystinuria using total homocysteine measurement in dried blood spots has been very successfully performed for many years for newborns from Qatar. METHODS: A new optimized newborn screening strategy for remethylation disorders and homocystinuria was developed and evaluated for newborns from Qatar using total homocysteine measurement as first-tier and methionine, methionine-phenylalanine-ratio and propionylcarnitine as second-tiers...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28101252/identification-of-proteins-from-wild-cardoon-flowers-cynara-cardunculus-l-by-a-proteomic-approach
#5
Amal Ben Amira, Julien Bauwens, Edwin De Pauw, Souhail Besbes, Hamadi Attia, Frédéric Francis, Christophe Blecker
Proteomic approach was applied to identify total proteins, particularly the enzymatic content, from wild cardoon flowers. As the selection of an appropriate sample preparation method is the key for getting reliable results, two different extraction/precipitation methods (trichloroacetic acid and phenol/ammonium acetate) were tested on fresh and lyophilized flowers. After two-dimensional electrophoresis (2D-E) separations, a better protein pattern was obtained after phenol extraction from lyophilized flowers...
January 2017: Journal of Chemical Biology
https://www.readbyqxmd.com/read/28097160/contribution-to-the-molecular-systematics-of-the-genus-capoeta-from-the-south-caspian-sea-basin-using-mitochondrial-cytochrome-b-sequences-teleostei-cyprinidae
#6
Halimeh Zareian, Hamid Reza Esmaeili, Adeleh Heidari, Majid Reza Khoshkholgh, Hamed Mousavi-Sabet
Traditionally, Capoeta populations from the southern Caspian Sea basin have been considered as Capoeta capoeta gracilis. Study on the phylogenetic relationship of Capoeta species using mitochondrial cytochrome b gene sequences show that Capoeta population from the southern Caspian Sea basin is distinct species and receive well support (posterior probability of 100%). Based on the tree topologies obtained from Bayesian and Maximum Likelihood methods, three main groups for the studied Capoeta were detected: Clade I) Capoeta trutta group (the Mesopotamian Capoeta group) including closely related taxa (e...
June 2016: Molecular Biology Research Communications
https://www.readbyqxmd.com/read/28095893/clinical-biochemical-and-molecular-characterization-of-korean-patients-with-mucolipidosis-ii-iii-and-successful-prenatal-diagnosis
#7
Mina Yang, Sung Yun Cho, Hyung-Doo Park, Rihwa Choi, Young-Eun Kim, Jinsup Kim, Soo-Youn Lee, Chang-Seok Ki, Jong-Won Kim, Young Bae Sohn, Junghan Song, Dong-Kyu Jin
BACKGROUND: Mucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. We investigated the molecular genetic characteristics of the GNPTAB gene, which codes for the alpha/beta subunits of a phosphotransferase, in Korean ML II/III patients. We included prenatal tests and evaluated the spectrum of mutations in East Asian populations with ML II/III through a literature review. METHODS: Seven patients from six families were enrolled in the study including two prenatal tests using chorionic villi samples...
January 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28095810/neonatal-screening-for-congenital-adrenal-hyperplasia-in-southern-brazil-a-population-based-study-with-108-409-infants
#8
Cristiane Kopacek, Simone Martins de Castro, Mayara Jorgens Prado, Claudia Maria Dornelles da Silva, Luciana Amorim Beltrão, Poli Mara Spritzer
BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct sex assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil...
January 17, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28092911/behaviour-of-cd11b-positive-cells-in-an-animal-model-of-laser-induced-choroidal-neovascularisation
#9
Lu Li, Peter Heiduschka, Anne F Alex, Daniel Niekämper, Nicole Eter
BACKGROUND/AIM: Immune cells, e.g. microglial cells of the retina, appear to be involved in pathological processes in neovascular age-related macular degeneration. Therefore, the purpose of this study was to immunohistochemically check the expression of various factors and cytokines by CD11b-positive (CD11b+) immune cells in an animal model of choroidal neovascularisation (CNV). METHODS: We used the animal model of laser-induced CNV in mice. Eyes were isolated at 1, 4, 7, and 14 days after laser treatment...
January 17, 2017: Ophthalmologica. Journal International D'ophtalmologie
https://www.readbyqxmd.com/read/28092049/rosette-assay-highly-customizable-dot-blot-for-sh2-domain-screening
#10
Khong Y Ng, Kazuya Machida
With a growing number of high-throughput studies, structural analyses, and availability of protein-protein interaction databases, it is now possible to apply web-based prediction tools to SH2 domain-interactions. However, in silico prediction is not always reliable and requires experimental validation. Rosette assay is a dot blot-based reverse-phase assay developed for the assessment of binding between SH2 domains and their ligands. It is conveniently customizable, allowing for low- to high-throughput analysis of interactions between various numbers of SH2 domains and their ligands, e...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28081097/laser-beam-self-focusing-in-turbulent-dissipative-media
#11
B Hafizi, J R Peñano, J P Palastro, R P Fischer, G DiComo
A high-power laser beam propagating through a dielectric in the presence of fluctuations is subject to diffraction, dissipation, and optical Kerr nonlinearity. A method of moments was applied to a stochastic, nonlinear enveloped wave equation to analyze the evolution of the long-term spot radius. For propagation in atmospheric turbulence described by a Kolmogorov-von Kármán spectral density, the analysis was benchmarked against field experiments in the low-power limit and compared with simulation results in the high-power regime...
January 15, 2017: Optics Letters
https://www.readbyqxmd.com/read/28072394/three-dimensional-cascaded-system-analysis-of-a-50-%C3%A2%C2%B5m-pixel-pitch-wafer-scale-cmos-active-pixel-sensor-x-ray-detector-for-digital-breast-tomosynthesis
#12
Chumin Zhao, Nikita Vassiljev, Anastasios Konstantinidis, Robert Speller, Jerzy Kanicki
High-resolution, low-noise x-ray detectors based on the complementary metal-oxide-semiconductor (CMOS) active pixel sensor (APS) technology have been developed and proposed for digital breast tomosynthesis (DBT). In this study, we evaluated the three-dimensional (3D) imaging performance of a 50 ��m pixel pitch CMOS APS x-ray detector named DynAMITe (Dynamic Range Adjustable for Medical Imaging Technology). The two-dimensional (2D) angle-dependent modulation transfer function (MTF), normalized noise power spectrum (NNPS), and detective quantum efficiency (DQE) were experimentally characterized and modeled using the cascaded system analysis at oblique incident angles up to 30��...
January 10, 2017: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/28069423/identification-and-characterization-of-pyrokinin-and-capa-peptides-and-corresponding-gpcrs-from-spotted-wing-drosophila-drosophila-suzukii
#13
Man-Yeon Choi, Seung-Joon Ahn, A Young Kim, Youngho Koh
The family of FXPRLamide peptides serves as a major insect hormone. It is characterized by a core active amino acid sequence conserved at the C-terminal ends, and provides various physiological roles across the Insecta. In this study we identified and characterized pyrokinin (PK) and Capa cDNAs encoding two FXPRLamide peptides, pyrokinin and CAPA-DH (diapause hormone), and two corresponding G-protein-coupled receptors (GPCRs) from spotted wing drosophila (SWD), Drosophila suzukii. Expressions of PK and CAPA mRNAs were differentially observed during all life stages except the embryo, and the detection of CAPA transcription was relatively strong compared with the PK gene in SWD...
January 6, 2017: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/28067528/urinary-1-h-nmr-metabolomic-fingerprinting-reveals-biomarkers-of-pulse-consumption-related-to-energy-metabolism-modulation-in-a-subcohort-from-the-predimed-study
#14
Francisco Madrid-Gambin, Rafael Llorach, Rosa Vázquez-Fresno, Mireia Urpi-Sarda, Enrique Almanza-Aguilera, Mar Garcia-Aloy, Ramón Estruch, Dolores Corella, Cristina Andres-Lacueva
Little is known about the metabolome fingerprint of pulse consumption. The study of robust and accurate biomarkers for pulse dietary assessment has great value for nutritional epidemiology regarding health benefits and their mechanisms. To characterize the fingerprinting of dietary pulses (chickpeas, lentils and beans), spot urine samples from a subcohort from the PREDIMED study were stratified, using a validated food frequency questionnaire. Non-pulse consumers (≤ 4 g/day of pulse intake) and habitual pulse consumers (≥ 25 g/day of pulse intake) were analysed using a 1H-NMR metabolomics approach combined with multi- and univariate data analysis...
January 9, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28065439/nine-years-of-newborn-screening-for-classical-galactosemia-in-the-netherlands-effectiveness-of-screening-methods-and-identification-of-patients-with-previously-unreported-phenotypes
#15
Lindsey Welling, Anita Boelen, Terry G J Derks, Peter C J I Schielen, Maaike de Vries, Monique Williams, Frits A Wijburg, Annet M Bosch
INTRODUCTION: Newborn screening (NBS) for classical galactosemia (CG) was introduced in the Netherlands in 2007. Multiple screening methods have been used since, and currently a two-tier system is used, with residual enzyme activity of galactose-1-phosphate-uridyltransferase (GALT) and total galactose concentration in dried blood spots as the primary and secondary markers. As it is essential to monitor effectiveness of NBS programs, we assessed the effectiveness of different screening methods used over time (primary aim), and aimed to identify and investigate patients identified through NBS with previously unreported clinical and biochemical phenotypes (secondary aim)...
December 29, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28065123/observations-of-youth-football-training-how-do-coaches-structure-training-sessions-for-player-development
#16
Donna O'Connor, Paul Larkin, A Mark Williams
We used systematic observation tools to explore the structure (i.e., activity and inactivity) and sequencing (i.e., the types of activities used) of football coaching sessions in Australia following the implementation of a new National Curriculum. Youth soccer coaches (n = 34), coaching within the Skill Acquisition (U11-U13 n = 19) and Game Training (U14-U17 n = 15) phases of the Football Federation Australia National Curriculum participated. Participants were filmed during a regular coaching session, with systematic observation of the session undertaken to provide a detailed analysis of the practice activities and coach behaviours...
January 7, 2017: Journal of Sports Sciences
https://www.readbyqxmd.com/read/28061954/multiple-cytokine-responses-in-discriminating-between-active-tuberculosis-and-latent-tuberculosis-infection
#17
Jing Wu, Sen Wang, Chanyi Lu, Lingyun Shao, Yan Gao, Zumo Zhou, Heqing Huang, Ying Zhang, Wenhong Zhang
BACKGROUND: Cytokines play an important role in cell-mediated immune responses against Mycobacterium tuberculosis (Mtb) infection. Cytokine profile specifically associated with active tuberculosis (ATB) patients, subjects with latent tuberculosis infection (LTBI) and non-infected individuals remains to be determined. METHODS: We enrolled a total of 92 subjects including patients with ATB (n = 25), LTBI (n = 36) and healthy controls (HC, n = 31) to investigate the cytokine production by peripheral blood mononuclear cells after Mtb purified protein derivative (PPD) stimulation which was evaluated by a beads-based multiplex assay system...
January 2017: Tuberculosis
https://www.readbyqxmd.com/read/28060538/persistent-albuminuria-as-a-surrogate-marker-of-chronic-kidney-damage-among-newly-diagnosed-hypertensives-prevalence-and-risk-factors-in-an-urban-population-in-karachi-pakistan
#18
Muslima Ejaz, Ejaz Ahmed, Muhammed Mubarak, Juanita Hatcher, Tazeen Jaffar
BACKGROUND: Hypertension is a major public health problem worldwide and a key factor for chronic kidney disease (CKD). Detection and treatment of CKD is of paramount importance. Albuminuria is one of the earliest screening markers recommended in patients at increased risk for CKD. OBJECTIVE: We conducted this study to determine the prevalence of persistent albuminuria (PA) in newly diagnosed hypertensive subjects and to study its associated risk factors. METHODS: A total of 173 (72%) of 240 subjects among 1340 newly diagnosed hypertensive subjects from an ongoing community-based cohort study who had been screened once for the presence of albuminuria were retested for the presence of PA in this study...
2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28059958/future-technologies-for-monitoring-hiv-drug-resistance-and-cure
#19
Urvi M Parikh, Kevin McCormick, Gert van Zyl, John W Mellors
PURPOSE OF REVIEW: Sensitive, scalable and affordable assays are critically needed for monitoring the success of interventions for preventing, treating and attempting to cure HIV infection. This review evaluates current and emerging technologies that are applicable for both surveillance of HIV drug resistance (HIVDR) and characterization of HIV reservoirs that persist despite antiretroviral therapy and are obstacles to curing HIV infection. RECENT FINDINGS: Next-generation sequencing (NGS) has the potential to be adapted into high-throughput, cost-efficient approaches for HIVDR surveillance and monitoring during continued scale-up of antiretroviral therapy and rollout of preexposure prophylaxis...
January 5, 2017: Current Opinion in HIV and AIDS
https://www.readbyqxmd.com/read/28059366/microlens-aided-focusing-of-linearly-and-azimuthally-polarized-laser-light
#20
S S Stafeev, A G Nalimov, M V Kotlyar, D Gibson, S Song, L O'Faolain, V V Kotlyar
We have investigated a four-sector transmission polarization converter (4-SPC) for a wavelength of 633 nm, that enables the conversion of a linearly polarized incident beam into a mixture of linearly and azimuthally polarized beams. It was numerically shown that by placing a Fresnel zone plate of focal length 532 nm immediately after the 4-SPC, the incident light can be focused into an oblong subwavelength focal spot whose size is smaller than the diffraction limit (with width and breadth, respectively, measuring FWHM = 0...
December 26, 2016: Optics Express
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