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https://www.readbyqxmd.com/read/29147671/distal-22q11-2-microduplication-case-report-and-review-of-the-literature
#1
Elana Pinchefsky, Laurence Laneuville, Myriam Srour
Distal chromosome 22q11.2 microduplications are associated with a wide range of phenotypes and unclear pathogenicity. The authors report on a 3-year-old girl with global developmental delay harboring a de novo 1.24 Mb distal chromosome 22q11.2 microduplication and a paternally inherited 0.25 Mb chromosome 4p14 microduplication. The authors review clinical features of 30 reported cases of distal 22q11.2 duplications. Common features include developmental delay (93%), neuropsychiatric features (26%), and nonspecific facial dysmorphisms (74%)...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/29145053/elucidating-the-urban-levels-sources-and-health-risks-of-polycyclic-aromatic-hydrocarbons-pahs-in-pakistan-implications-for-changing-energy-demand
#2
Naima Hamid, Jabir Hussain Syed, Muhammad Junaid, Adeel Mahmood, Jun Li, Gan Zhang, Riffat Naseem Malik
Due to the severe fuel crisis in terms of natural gas, a paradigm shift in fuel combustion (diesel, gasoline, and biomass) may increase the atmospheric emissions and associated health risks in Pakistan. Present study was aimed to investigate the concentration of fugitive PAHs in the environment (outdoor and indoor settings), associated probabilistic health risk assessment in the exposed population, and possible linkage between fuel consumption patterns and PAHs emissions in twin cities (Rawalpindi and Islamabad) of Pakistan...
November 13, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/29113823/genomic-comparison-of-bovine-papillomavirus-1-isolates-from-bovine-equine-and-asinine-lesional-tissue-samples
#3
C Koch, A S Ramsauer, M Drögemüller, M Ackermann, V Gerber, K Tobler
Several attempts have been made to categorize equid- and bovid-specific bovine papillomavirus 1 (BPV1) isolates based on sequence tags. This study includes newly determined sequence information from 33 BPV1 isolates of equine, asinine and bovine origin and investigates sequence bias due to host species. Twenty of the viral genomes were sequenced over their entire length and a further thirteen were sequenced, including flanking sequences, at two specific sites, the LCR and the E5 ORF. Alignment and analyses of the sequences did not reveal statistically significant site differences between the sequences of bovine and equid origin...
November 4, 2017: Virus Research
https://www.readbyqxmd.com/read/29090080/critical-region-within-22q11-2-linked-to-higher-rate-of-autism-spectrum-disorder
#4
Caitlin C Clements, Tara L Wenger, Alisa R Zoltowski, Jennifer R Bertollo, Judith S Miller, Ashley B de Marchena, Lauren M Mitteer, John C Carey, Benjamin E Yerys, Elaine H Zackai, Beverly S Emanuel, Donna M McDonald-McGinn, Robert T Schultz
BACKGROUND: Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region. METHODS: We recruited 46 patients with nested deletions (n = 33) or duplications (n = 13) of 22q11...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29089142/survival-in-patients-with-parotid-gland-carcinoma-results-of-a-multi-center-study
#5
Keigo Honda, Shinzo Tanaka, Shogo Shinohara, Ryo Asato, Hisanobu Tamaki, Toshiki Maetani, Ichiro Tateya, Morimasa Kitamura, Shinji Takebayashi, Kazuyuki Ichimaru, Yoshiharu Kitani, Yohei Kumabe, Tsuyoshi Kojima, Koji Ushiro, Masanobu Mizuta, Koichiro Yamada, Koichi Omori
BACKGROUND: Parotid gland carcinoma is a rare malignancy, comprising only 1-4% of head and neck carcinomas; therefore, it is difficult for a single institution to perform meaningful analysis on its clinical characteristics. The aim of this study was to update the clinical knowledge of this rare disease by a multi-center approach. METHODS: The study was conducted by the Kyoto University Hospital and Affiliated Facilities Head and Neck Clinical Oncology Group (Kyoto-HNOG)...
October 24, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/29089135/human-cancer-risk-estimation-for-1-3-butadiene-an-assessment-of-personal-exposure-and-different-microenvironments
#6
Lai Nguyen Huy, Shun Cheng Lee, Zhuozhi Zhang
This study estimated the lifetime cancer risk (LCR) attributable to 1,3-butadiene (BD) personal exposure and to other microenvironments, including residential home, outdoor, in-office, in-vehicle, and dining. Detailed life expectancy by country (WHO), inhalation rate and body weight by gender reported by USEPA were used for the calculation, focusing on adult population (25≤Age<65). LCR estimation of the adult population due to personal exposure exceeded the USEPA benchmark of 1×10(-6) in many cities. For outdoor BD exposure, LCR estimations in 45 out of 175 cities/sites (sharing 26%) exceeded the USEPA benchmark...
October 28, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/29075557/rats-bred-for-low-and-high-running-capacity-display-alterations-in-peripheral-tissues-and-nerves-relevant-to-neuropathy-and-pain
#7
Michael A Cooper, Megan M Jack, Janelle M Ryals, Page Hayley, Taylor Escher, Lauren G Koch, Steven L Britton, Shelby M Raupp, Michelle K Winter, Kenneth E McCarson, Paige C Geiger, John P Thyfault, Douglas E Wright
INTRODUCTION: Diet and activity are recognized as modulators of nervous system disease, including pain. Studies of exercise consistently reveal a benefit on pain. This study focused on female rats to understand differences related to metabolic status and peripheral nerve function in females. METHODS: Here, we investigated parameters of peripheral nerve function relevant to pain in rats selectively bred for high (high-capacity runners; HCR) or low endurance exercise capacity (low-capacity runners; LCR) resulting in divergent intrinsic aerobic capacities and susceptibility for metabolic conditions...
October 2017: Brain and Behavior
https://www.readbyqxmd.com/read/29042006/comparative-study-of-cephalometric-measurements-using-3-imaging-modalities
#8
Juan Wen, Shu Liu, Xiao Ye, Xiaoqiu Xie, Jialing Li, Huang Li, Li Mei
BACKGROUND: The authors conducted a study to compare 2-dimensional (2D) lateral cephalometric radiography (LCR), 2D cone-beam computer tomographic (CBCT)-generated cephalogram and 3-dimensional (3D) CBCT for assessing cephalometric measurements. METHODS: The authors took 2D LCR, 2D CBCT-generated cephalogram, and 3D CBCT images involving 60 participants. They obtained 11 angular and 11 linear measurements for all images. They used 1-way analysis of variance and the Fisher least significant difference test for statistical comparisons...
October 14, 2017: Journal of the American Dental Association
https://www.readbyqxmd.com/read/29031407/biomass-burning-particles-in-the-brazilian-amazon-region-mutagenic-effects-of-nitro-and-oxy-pahs-and-assessment-of-health-risks
#9
Marcos Felipe de Oliveira Galvão, Nilmara de Oliveira Alves, Paula Anastácia Ferreira, Sofia Caumo, Pérola de Castro Vasconcellos, Paulo Artaxo, Sandra de Souza Hacon, Deborah Arnsdorff Roubicek, Silvia Regina Batistuzzo de Medeiros
Emissions from burning of biomass in the Amazon region have adverse effects on the environment and human health. Herein, particulate matter (PM) emitted from biomass burning in the Amazon region during two different periods, namely intense and moderate, was investigated. This study focused on: i) organic characterization of nitro- and oxy-polycyclic aromatic hydrocarbons (PAHs); ii) assessment of the excess lifetime cancer risk (LCR); and iii) assessment of the in vitro mutagenic effects of extractable organic matter (EOM)...
October 11, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/29030493/intrinsic-aerobic-capacity-governs-the-associations-between-gut-microbiota-composition-and-fat-metabolism-age-dependently-in-rat-siblings
#10
Satu Pekkala, Sanna Lensu, Miriam Nokia, Sanja Vanhatalo, Lauren G Koch, Steven L Britton, Heikki Kainulainen
Host genetic factors affecting the gut microbiome play an important role in obesity. Yet limited attention has been paid on the host genetic factors linked to physical fitness in modifying the microbiome. This study determined whether sibling-matched pairs of rats selectively bred for high (HCR) and low (LCR) aerobic capacity differ in their microbiome age-dependently and which taxa associate with differential in metabolism. Several taxa in young adult rats (hereafter young) linked to inherited aerobic capacity while in older adult (hereafter old) rats most of the differences between the lines associated with body weight...
October 13, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/28991279/the-role-of-gamma-aminobutyric-acid-in-female-depression
#11
Mónica Flores-Ramos, Margus Salinas, Armando Carvajal-Lohr, Lorena Rodríguez-Bores
Depression is a common psychiatric disorder and a leading cause of disability worldwide. Multiple and diverse factors are involved in its cause although biologic factors are prominent. The present study reviews the evidence about the role that gamma-aminobutyric acid plays in the complex pathogenesis of depression, particularly in women. The implication of gamma-aminobutyric acid (GABA) is based mainly from animal models whereas clinical studies in depressed patients show alterations of GABA levels in plasma and cerebrospinal fluid...
2017: Gaceta Médica de México
https://www.readbyqxmd.com/read/28988982/phylogenetic-analysis-of-human-papillomavirus-16-variants-isolated-from-indian-breast-cancer-patients-showed-difference-in-genetic-diversity-with-that-of-cervical-cancer-isolates
#12
Saimul Islam, Dipanjana Mazumder Indra, Mukta Basu, Anirban Roychowdhury, Pijush Das, Hemantika Dasgupta, Anup Roy, Neyaz Alam, Ranajit Kumar Mondal, Susanta Roychoudhury, Chinmay Kumar Panda
The genetic variations of HPV16 in Breast Cancer (BC) are not well studied unlike HPV16 in Cervical Cancer (CACX). In this study, the genetic variations of HPV16 in BC were compared with HPV16 in CACX. In sequencing analysis of LCR, E6 and E7 regions of HPV16 in BC and CACX the A lineage was seen to be 64.2% and 66.6% respectively. The other lineages showed differential frequency in BC and CACX. The mutation frequency index of the regions in BC and CACX was in the following order: LCR>E6>E7. However, the inter-patient genetic diversity in LCR and E6/E7 regions was high in BC than CACX...
October 6, 2017: Virus Research
https://www.readbyqxmd.com/read/28969064/thrombin-induced-platelet-fibrin-clot-strength-in-relation-to-platelet-volume-indices-and-inflammatory-markers-in-patients-with-coronary-artery-disease
#13
Hai-Chen Lv, Hong-Yi Wu, Jia-Sheng Yin, Jun-Bo Ge
Platelet aggregation and inflammation are both implicated in coronary artery disease (CAD). Thrombin induced platelet-fibrin clot strength (MAThrombin) measured by thrombelastography (TEG) has been proved to be a novel marker of platelet aggregation. The aim of this study was to investigate the correlation of MAThrombin to platelet volume indices (PVIs) or to inflammatory markers in different types of CAD. 206 patients with different types of CAD were enrolled. MAThrombin, PVIs, including mean platelet volume (MPV), platelet distribution width (PDW), and platelet-large cell ratio (P-LCR) as well as inflammatory markers, including high-sensitivity C-reactive protein (hs-CRP) and fibrinogen (Fbg) were measured...
September 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28960035/lactate-parameters-predict-clinical-outcomes-in-patients-with-nonvariceal-upper-gastrointestinal-bleeding
#14
Seung Hoon Lee, Yang Won Min, Joohwan Bae, Hyuk Lee, Byung Hoon Min, Jun Haeng Lee, Poong Lyul Rhee, Jae J Kim
The predictive role of lactate in patients with nonvariceal upper gastrointestinal bleeding (NVUGIB) has been suggested. This study evaluated several lactate parameters in terms of predicting outcomes of bleeding patients and sought to establish a new scoring model by combining lactate parameters and the AIMS65 score. A total of 114 patients with NVUGIB who underwent serum lactate level testing at least twice and endoscopic hemostasis within 24 hours after admission were retrospectively analyzed. The associations between five lactate parameters and clinical outcomes were evaluated and the predictive power of lactate parameter combined AIMS65s (L-AIMS65s) and AIMS56 scoring was compared...
November 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28946774/relationship-between-plasma-pentraxin-3-concentration-and-platelet-indices-in-patients-with-stable-coronary-artery-disease
#15
Ilona Korzonek-Szlacheta, Aleksander Danikiewicz, Janusz Szkodziński, Justyna Nowak, Andrzej Lekston, Mariusz Gąsior, Barbara Zubelewicz-Szkodzińska, Bartosz Hudzik
Few reports have analyzed the effect of pentraxin 3 (PTX3) on platelets and their activation. We explored the association between plasma PTX3 and platelet indices. Forty-nine patients with stable coronary artery disease (CAD) were enrolled. Based on median PTX3, the study population was divided into group 1 (n = 25; PTX3 ≤ 0.98 ng/mL) and group 2 (n = 24; PTX3 > 0.98 ng/mL). Platelet indices investigated included mean platelet volume (MPV), platelet distribution width (PDW), platelets and large cell ratio (P-LCR), MPV to platelet count ratio (MPV/PC), platelet to lymphocyte ratio (PLR), and MPV to lymphocyte ratio (MPVLR)...
January 1, 2017: Angiology
https://www.readbyqxmd.com/read/28945810/spontaneous-local-diastolic-subsarcolemmal-calcium-releases-in-single-isolated-guinea-pig-sinoatrial-nodal-cells
#16
Syevda G Sirenko, Dongmei Yang, Larissa A Maltseva, Mary S Kim, Edward G Lakatta, Victor A Maltsev
Uptake and release calcium from the sarcoplasmic reticulum (SR) (dubbed "calcium clock"), in the form of spontaneous, rhythmic, local diastolic calcium releases (LCRs), together with voltage-sensitive ion channels (membrane clock) form a coupled system that regulates the action potential (AP) firing rate. LCRs activate Sodium/Calcium exchanger (NCX) that accelerates diastolic depolarization and thus participating in regulation of the time at which the next AP will occur. Previous studies in rabbit SA node cells (SANC) demonstrated that the basal AP cycle length (APCL) is tightly coupled to the basal LCR period (time from the prior AP-induced Ca2+ transient to the diastolic LCR occurrence), and that this coupling is further modulated by autonomic receptor stimulation...
2017: PloS One
https://www.readbyqxmd.com/read/28944438/personal-exposure-and-health-risk-assessment-of-carbonyls-in-family-cars-and-public-transports-a-comparative-study-in-nanjing-china
#17
Huaizhou Xu, Qin Zhang, Ninghui Song, Min Guo, Shenghu Zhang, Guixiang Ji, Lili Shi
To evaluate passenger health risks associated with inhalation exposure to carbonyl compounds mainly emitted from decoration materials of vehicles, we tested the carbonyl concentrations in interior air of 20 family cars, 6 metro lines, and 5 buses in the city of Nanjing. To assess non-carcinogenic health risks, we compared the data to the health guidelines of China, US Environmental Protection Agency (EPA), and Office of Environmental Health Hazard Assessment (OEHHA), respectively. To assess carcinogenic risks, we followed a standard approach proposed by the OEHHA to calculate lifetime cancer risks (LCR) of formaldehyde and acetaldehyde for various age groups...
September 24, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28934803/two-interesting-cases-of-meralgia-paraesthetica
#18
Christopher David Jones, Luke Guiot, Mark Portelli, Timothy Bullen, Paul Skaife
Meralgia paraesthetica (MP) is a condition originally described by Bernhardt in 1878 and was eventually named by Roth in 1895. It is caused by compression of the lateral femoral cutaneous nerve (LFCN) resulting in varying types of discomfort. Severity of the symptoms can range from mildly uncomfortable to painfully disabling. In this article we discuss 2 patients with a LFCN injury occurring as a result of laparoscopic ventral rectopexy (LVR). The first patient is a 46-year-old female who reported pain and dysesthesia in the left groin and the anterolateral thigh, 2 days post LCR...
September 2017: Pain Physician
https://www.readbyqxmd.com/read/28927538/advances-in-ligase-chain-reaction-and-ligation-based-amplifications-for-genotyping-assays-detection-and-applications
#19
REVIEW
Abdullah A Gibriel, Ola Adel
Genetic variants have been reported to cause several genetic diseases. Various genotyping assays have been developed for diagnostic and screening purposes but with certain limitations in sensitivity, specificity, cost effectiveness and/or time savings. Since the discovery of ligase chain reaction (LCR) in the late nineties, it became one of the most favored platforms for detecting these variants and also for genotyping low abundant contaminants. Recent and powerful modifications with the integration of various detection strategies such as electrochemical and magnetic biosensors, nanoparticles (NPs), quantum dots, quartz crystal and leaky surface acoustic surface biosensors, DNAzyme, rolling circle amplification (RCA), strand displacement amplification (SDA), surface enhanced raman scattering (SERS), chemiluminescence and fluorescence resonance energy transfer have been introduced to both LCR and ligation based amplifications to enable high-throughput and inexpensive multiplex genotyping with improved robustness, simplicity, sensitivity and specificity...
July 2017: Mutation Research
https://www.readbyqxmd.com/read/28916711/comparative-analysis-of-three-dimensional-chromosomal-architecture-identifies-a-novel-fetal-hemoglobin-regulatory-element
#20
COMPARATIVE STUDY
Peng Huang, Cheryl A Keller, Belinda Giardine, Jeremy D Grevet, James O J Davies, Jim R Hughes, Ryo Kurita, Yukio Nakamura, Ross C Hardison, Gerd A Blobel
Chromatin structure is tightly intertwined with transcription regulation. Here we compared the chromosomal architectures of fetal and adult human erythroblasts and found that, globally, chromatin structures and compartments A/B are highly similar at both developmental stages. At a finer scale, we detected distinct folding patterns at the developmentally controlled β-globin locus. Specifically, new fetal stage-specific contacts were uncovered between a region separating the fetal (γ) and adult (δ and β) globin genes (encompassing the HBBP1 and BGLT3 noncoding genes) and two distal chromosomal sites (HS5 and 3'HS1) that flank the locus...
August 15, 2017: Genes & Development
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