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https://www.readbyqxmd.com/read/28110336/new-territory-for-an-old-disease-5-alpha-reductase-type-2-deficiency-in-bulgaria
#1
Silvia Andonova, Ralitsa Robeva, Radoslava Vazharova, Susanne Ledig, Liliana Grozdanova, Elisaveta Stefanova, Irena Bradinova, Tihomir Todorov, George Hadjidekov, Milko Sirakov, Peter Wiacker, Philip Kumanov, Alexey Savov
Disorders/differences of sexual development (DSD) are a group of conditions, some of which can be clinically indistinguishable mainly due to their phenotypic variability. Defining the molecular basis of their wide spectrum is still in progress. The diagnosis of 5-alpha-reductase type 2 (5α-reductase-2) deficiency is difficult especially in newborns and pre-pubertal individuals, and as a result its frequency might be underestimated. In the present study, we describe the clinical characteristics and molecular defects in 3 nonrelated 5α-reductase-2 deficiency patients of Bulgarian descent...
January 21, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28108175/characterization-of-the-synergistic-interaction-between-beauveria-bassiana-strain-gha-and-bacillus-thuringiensis-morrisoni-strain-tenebrionis-applied-against-colorado-potato-beetle-larvae
#2
S P Wraight, M E Ramos
Studies were undertaken to further characterize the previously identified synergistic activity of Bacillus thuringiensis- and Beauveria bassiana-based biopesticides against Colorado potato beetle (CPB). A flowable concentrate of B. thuringiensis morrisoni strain tenebrionis (Bt) (Novodor® FC) and a wettable powder of B. bassiana strain GHA (Bb) (Mycotrol® 22WP) were applied against CPB larval populations infesting potato in field plots. Novodor FC and an oil-dispersion formulation of Bb (Mycotrol ES) were applied against second-instar CPB larvae on potted potato plants in greenhouse tests under low relative humidity (RH), variable-temperature conditions...
January 17, 2017: Journal of Invertebrate Pathology
https://www.readbyqxmd.com/read/28107668/neurotrophins-role-in-depressive-symptoms-and-executive-function-performance-association-analysis-of-nrn1-gene-and-its-interaction-with-bdnf-gene-in-a-non-clinical-sample
#3
C Prats, B Arias, G Ortet, M I Ibáñez, J Moya, E Pomarol-Clotet, L Fañanás, M Fatjó-Vilas
BACKGROUND: Neuritin-1 is a neurotrophic factor involved in synaptic plasticity that has been associated with depressive disorders, schizophrenia and cognitive performance. The study of genotype-phenotype relationships in healthy individuals is a useful framework to investigate the etiology of brain dysfunctions. We therefore aimed to investigate in a non-clinical sample whether NRN1 gene contributes to the psychopathological profile, with a particular focus on the clinical dimensions previously related to the NRN1 gene (i...
November 23, 2016: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28106538/a-polymorphism-in-mir-34b-c-as-a-potential-biomarker-for-early-onset-of-hereditary-retinoblastoma
#4
Ivna N S R Carvalho, Adriana H O Reis, Anna C E Dos Santos, Fernando R Vargas
BACKGROUND: Retinoblastoma (RB) is a malignant pediatric tumor and, mainly because of late diagnosis, most patients undergo enucleation. The tumor almost always initiates by two inactivation events at the RB1 gene. Single nucleotide polymorphisms (SNPs) in p53 pathway have been found to represent genetic modifiers of RB. OBJECTIVE: To investigate whether a SNP (rs4938723T > C) in mir-34b/c gene, a key effector of p53, could influence RB risk and patients' age of onset...
January 13, 2017: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/28103901/pathogenic-lrrk2-variants-are-gain-of-function-mutations-that-enhance-lrrk2-mediated-repression-of-%C3%AE-catenin-signaling
#5
Daniel C Berwick, Behzad Javaheri, Andrea Wetzel, Mark Hopkinson, Jonathon Nixon-Abell, Simone Grannò, Andrew A Pitsillides, Kirsten Harvey
BACKGROUND: LRRK2 mutations and risk variants increase susceptibility to inherited and idiopathic Parkinson's disease, while recent studies have identified potential protective variants. This, and the fact that LRRK2 mutation carriers develop symptoms and brain pathology almost indistinguishable from idiopathic Parkinson's disease, has led to enormous interest in this protein. LRRK2 has been implicated in a range of cellular events, but key among them is canonical Wnt signalling, which results in increased levels of transcriptionally active β-catenin...
January 19, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28102864/transthyretin-v122i-pv142i-cardiac-amyloidosis-an-age-dependent-autosomal-dominant-cardiomyopathy-too-common-to-be-overlooked-as-a-cause-of-significant-heart-disease-in-elderly-african-americans
#6
REVIEW
Joel N Buxbaum, Frederick L Ruberg
Since the identification of a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in the transthyretin (TTR)-derived fibrils extracted from the heart of a patient with late-onset cardiac amyloidosis, it has become clear that the amyloidogenic mutation and the disease occur almost exclusively in individuals of identifiable African descent. In the United States, the amyloidogenic allele frequency is 0.0173 and is carried by 3.5% of community-dwelling African Americans. Genotyping across Africa indicates that the origin of the allele is in the West African countries that were the major source of the slave trade to North America...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102352/reference-free-high-resolution-measurement-method-of-timing-jitter-spectra-of-optical-frequency-combs
#7
Dohyeon Kwon, Chan-Gi Jeon, Junho Shin, Myoung-Sun Heo, Sang Eon Park, Youjian Song, Jungwon Kim
Timing jitter is one of the most important properties of femtosecond mode-locked lasers and optical frequency combs. Accurate measurement of timing jitter power spectral density (PSD) is a critical prerequisite for optimizing overall noise performance and further advancing comb applications both in the time and frequency domains. Commonly used jitter measurement methods require a reference mode-locked laser with timing jitter similar to or lower than that of the laser-under-test, which is a demanding requirement for many laser laboratories, and/or have limited measurement resolution...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28102150/ultra-rare-genetic-variation-in-common-epilepsies-a-case-control-sequencing-study
#8
(no author information available yet)
BACKGROUND: Despite progress in understanding the genetics of rare epilepsies, the more common epilepsies have proven less amenable to traditional gene-discovery analyses. We aimed to assess the contribution of ultra-rare genetic variation to common epilepsies. METHODS: We did a case-control sequencing study with exome sequence data from unrelated individuals clinically evaluated for one of the two most common epilepsy syndromes: familial genetic generalised epilepsy, or familial or sporadic non-acquired focal epilepsy...
February 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28100246/genetic-effect-of-interleukin-1-beta-c-511t-polymorphism-on-the-structural-covariance-network-and-white-matter-integrity-in-alzheimer-s-disease
#9
Chi-Wei Huang, Shih-Wei Hsu, Shih-Jen Tsai, Nai-Ching Chen, Mu-En Liu, Chen-Chang Lee, Shu-Hua Huang, Weng-Neng Chang, Ya-Ting Chang, Wan-Chen Tsai, Chiung-Chih Chang
BACKGROUND: Inflammatory processes play a pivotal role in the degenerative process of Alzheimer's disease. In humans, a biallelic (C/T) polymorphism in the promoter region (position-511) (rs16944) of the interleukin-1 beta gene has been significantly associated with differences in the secretory capacity of interleukin-1 beta. In this study, we investigated whether this functional polymorphism mediates the brain networks in patients with Alzheimer's disease. METHODS: We enrolled a total of 135 patients with Alzheimer's disease (65 males, 70 females), and investigated their gray matter structural covariance networks using 3D T1 magnetic resonance imaging and their white matter macro-structural integrities using fractional anisotropy...
January 18, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28098911/diagnosis-for-choroideremia-in-a-large-chinese-pedigree-by-next%C3%A2-generation-sequencing-ngs-and-non%C3%A2-invasive-prenatal-testing-nipt
#10
Li Zhu, Jingliang Cheng, Boxu Zhou, Chunli Wei, Weichan Yang, Dong Jiang, Iqra Ijaz, Xiaojun Tan, Rui Chen, Junjiang Fu
To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification...
January 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28097914/nanostructured-lipid-carriers-nlc-for-the-delivery-of-natural-molecules-with-antimicrobial-activity-production-characterization-and-in-vitro-studies
#11
Rita Cortesi, Giuseppe Valacchi, Ximena M Muresan, Markus Drechsler, Catia Contado, Elisabetta Esposito, Alessandro Grandini, Alessandra Guerrini, Giuseppe Forlani, Gianni Sacchetti
This study describes the preparation, characterization and in vitro activity of nanostructured lipid carriers (NLC) encapsulating natural molecules with antimicrobial activity, such as plumbagin, hydroquinon, eugenol, alpha-asarone and alpha-tocopherol. NLC were prepared by melt and ultrasonication method, characterized by Cryo-TEM for morphology and SdFFF for dimensional distribution and active encapsulation yields. In vitro tests were conducted on bacteria, fungi and human cell cultures. In vitro tests demonstrated that plumbagin is strongly toxic towards F...
January 18, 2017: Journal of Microencapsulation
https://www.readbyqxmd.com/read/28096670/lung-targeting-drug-delivery-system-of-baicalin-loaded-nanoliposomes-development-biodistribution-in-rabbits-and-pharmacodynamics-in-nude-mice-bearing-orthotopic-human-lung-cancer
#12
Yumeng Wei, Jing Liang, Xiaoli Zheng, Chao Pi, Hao Liu, Hongru Yang, Yonggen Zou, Yun Ye, Ling Zhao
The present study aims to develop a kind of novel nanoliposomes for the lung-targeting delivery system of baicalin as a Chinese medicine monomer. Baicalin-loaded nanoliposomes were prepared by the effervescent dispersion and lyophilized techniques. Baicalin-loaded nanoliposomes had an average particle size of 131.7±11.7 nm with 0.19±0.02 polydispersity index, 82.8%±1.24% entrapment efficiency and 90.47%±0.93% of yield and sustaining drug release effect over 24 h and were stable for 12 months at least. In vitro no hemolytic activity was observed for the experimental drug concentration...
2017: International Journal of Nanomedicine
https://www.readbyqxmd.com/read/28095524/combination-of-collagen-barrier-membrane-with-enamel-matrix-derivative-liquid-improves-osteoblast-adhesion-and-differentiation
#13
Richard J Miron, Masako Fujioka-Kobayashi, Daniel Buser, Yufeng Zhang, Dieter D Bosshardt, Anton Sculean
PURPOSE: Collagen barrier membranes were first introduced to regenerative periodontal and oral surgery to prevent fast ingrowing soft tissues (ie, epithelium and connective tissue) into the defect space. More recent attempts have aimed at combining collagen membranes with various biologics/growth factors to speed up the healing process and improve the quality of regenerated tissues. Recently, a new formulation of enamel matrix derivative in a liquid carrier system (Osteogain) has demonstrated improved physico-chemical properties for the adsorption of enamel matrix derivative to facilitate protein adsorption to biomaterials...
January 2017: International Journal of Oral & Maxillofacial Implants
https://www.readbyqxmd.com/read/28095119/fecal-carriage-of-extended-spectrum-%C3%AE-lactamase-producing-enterobacteriaceae-strains-is-associated-with-worse-outcome-in-patients-hospitalized-in-the-pediatric-oncology-unit-of-beni-messous-hospital-in-algiers-algeria
#14
Chafiaa Medboua-Benbalagh, Abdelaziz Touati, Rachida Kermas, Alima Gharout-Sait, Lucien Brasme, Halima Mezhoud, Djamila Touati, Thomas Guillard, Christophe de Champs
OBJECTIVES: The current study aimed to investigate extended-spectrum β-lactamase-producing Enterobacteriaceae (ESBL-E) fecal carriage in children with different cancers admitted in the pediatric oncology unit of Beni-Messous Hospital (Algiers, Algeria). MATERIALS AND METHODS: Rectal swabs from children with cancer were sampled from February 2012 to May 2013 within 48 hours following their admission. After species identification and detection of ESBL production by double-disk synergy test (DD test), antibiotic susceptibility was determined by the standard disk diffusion method...
January 17, 2017: Microbial Drug Resistance: MDR: Mechanisms, Epidemiology, and Disease
https://www.readbyqxmd.com/read/28094105/sonographic-alteration-of-substantia-nigra-is-related-to-parkinsonism-predominant-course-of-x-linked-dystonia-parkinsonism
#15
Uwe Walter, Raymond Rosales, Alessandro Rocco, Ana Westenberger, Aloysius Domingo, Criscely L Go, Norbert Brüggemann, Christine Klein, Lillian V Lee, Dirk Dressler
INTRODUCTION: X-linked recessive dystonia-parkinsonism (XDP, DYT3) is highly prevalent in the Philippines and manifests with varying phenotype. We sought to evaluate the significance of transcranial brain sonography as a biomarker for parkinsonism-predominant phenotype. METHODS: 90 Filipino participants were enrolled into a cross-sectional study: 39 patients with XDP, 21 asymptomatic first-degree relatives of XDP patients, and 30 healthy control subjects. Echogenicity of the substantia nigra and the lenticular nuclei was digitally quantified...
January 10, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28093616/rare-germline-alterations-in-cancer-related-genes-associated-with-the-risk-of-multiple-primary-tumor-development
#16
Rolando A R Villacis, Tatiane R Basso, Luisa M Canto, Maísa Pinheiro, Karina M Santiago, Juliana Giacomazzi, Cláudia A A de Paula, Dirce M Carraro, Patrícia Ashton-Prolla, Maria I Achatz, Silvia R Rogatto
: Multiple primary tumors (MPT) have been described in carriers of inherited cancer predisposition genes. However, the genetic etiology of a large proportion of MPT cases remains unclear. We reviewed 267 patients with hereditary cancer predisposition syndromes (HCPS) that underwent genetic counseling and selected 22 patients with MPT to perform genomic analysis (CytoScan HD Array, Affymetrix) aiming to identify new alterations related to a high risk of developing MPT. Twenty patients had a positive family history of cancer and 11 met phenotypic criteria for HCPS...
January 16, 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/28092621/cholesterol-deficiency-new-genetic-defect-transmitted-to-polish-holstein-friesian-cattle
#17
S Kamiński, A Ruść
The aim of the study was to find out whether carriers of new genetic defect Cholesterol Deficiency (CD) occur in the population of Polish Holstein-Friesian bulls. Twenty seven bulls were included in the analysis. Bulls were selected as having in the pedigree known carrier of CD (Maughlin Storm CANM000005457798). All bulls were diagnosed by the test described by Menzi et al. (2016) by using allele-specific PCR. Among 27 bulls, 9 new CD carriers were found. Our results show that causal mutation for CD is already transmitted to Polish Holstein-Friesian cattle...
December 1, 2016: Polish Journal of Veterinary Sciences
https://www.readbyqxmd.com/read/28092603/gut-microbiota-isolated-from-the-european-pond-turtle-emys-orbicularis-and-its-antimicrobial-resistance
#18
M Ruzauskas, S Misyte, L Vaskeviciute, Z Mikniene, R Siugzdiniene, I Klimiene, A Pikuniene, J Kucinskiene
The aim of the study was to isolate cultivable gut microbiota from European pond turtles kept at the Lithuanian Zoo and to determine antimicrobial resistance of the isolates. The study subjects included 8 elderly turtles living at the Lithuanian Zoo for about 50 years as well as their offspring - 24 young individuals (1-2 years old) that were hatched at the same zoo. Animals were not exposed by treatment with antimicrobials during the last 3 years. Gut samples were taken from the cloaca and inoculated onto universal media...
December 1, 2016: Polish Journal of Veterinary Sciences
https://www.readbyqxmd.com/read/28092543/a-robust-wrap-reduction-algorithm-for-fringe-projection-profilometry-and-applications-in-magnetic-resonance-imaging
#19
Miguel Arevalillo-Herraez, Maximo Cobos, Miguel Garcia Pineda
In this paper, we present an effective algorithm to reduce the number of wraps in a two-dimensional (2-D) phase signal provided as input. The technique is based on an accurate estimate of the fundamental frequency of a 2-D complex signal with the phase given by the input, and the removal of a dependent additive term from the phase map. Unlike existing methods based on the Discrete Fourier Transform (DFT), the frequency is computed by using noise-robust estimates that are not restricted to integer values. Then, to deal with the problem of a non-integer shift in the frequency domain, an equivalent operation is carried out on the original phase signal...
January 10, 2017: IEEE Transactions on Image Processing: a Publication of the IEEE Signal Processing Society
https://www.readbyqxmd.com/read/28092323/brain-substrates-of-reward-processing-and-the-%C3%AE-opioid-receptor-a-pathway-into-pain
#20
Frauke Nees, Susanne Becker, Sabina Millenet, Tobias Banaschewski, Luise Poustka, Arun Bokde, Uli Bromberg, Christian Büchel, Patricia J Conrod, Sylvane Desrivières, Vincent Frouin, Jürgen Gallinat, Hugh Garavan, Andreas Heinz, Bernd Ittermann, Jean-Luc Martinot, Dimitri Papadopoulos Orfanos, Tomáš Paus, Michael N Smolka, Henrik Walter, Rob Whelan, Gunter Schumann, Herta Flor
The processing of reward and reinforcement learning seems to be important determinants of pain chronicity. However, reward processing is already altered early in life and if this is related to the development of pain symptoms later on is not known. The aim of this study was first to examine whether behavioural and brain-related indicators of reward processing at the age of 14 to 15 years are significant predictors of pain complaints 2 years later, at 16 to 17 years. Second, we investigated the contribution of genetic variations in the opioidergic system, which is linked to the processing of both, reward and pain, to this prediction...
February 2017: Pain
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