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https://www.readbyqxmd.com/read/28431466/next-generation-sequencing-reveals-one-novel-missense-mutation-in-col1a2-gene-in-an-iranian-family-with-osteogenesis-imperfecta
#1
Farah Talebi, Farideh Ghanbari Mardasi, Mohammadi Asl Javad, Bavarsad Amir Hooshang, Salehi Kambo Masoumeh
BAckground: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by next-generation sequencing (NGS) gene panel and Sanger sequencing. Results: Five different variants were identified in COL1A1 and COL1A2, including two variants in COL1A1 and three variants in COL1A2...
April 22, 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/28421169/high-prevalence-of-virulence-genes-in-specific-genotypes-of-atypical-enteropathogenic-escherichia-coli
#2
Yanmei Xu, Xiangning Bai, Yujuan Jin, Bin Hu, Hong Wang, Hui Sun, Ruyue Fan, Shanshan Fu, Yanwen Xiong
Atypical enteropathogenic Escherichia coli (aEPEC) strains are emerging enteropathogens that have been detected worldwide. A collection of 228 aEPEC strains (121 from diarrheal patients, 27 from healthy carriers, 47 from animals and 33 from raw meats) were investigated for serotypes, virulence gene profiles and phylogenetic relationships. Sixty-six O serogroups were identified. Serogroup O51 was the most prevalent, followed by O119, O26 and O76. For the 20 virulence genes detected, statistically significant differences were observed in the overall prevalence of efa1 (lifA), nleB, nleE, set/ent, paa, and ehxA genes among strains from diarrheal patients, healthy carriers, animals and raw meats, respectively...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28413750/an-optically-isotropic-antiferroelectric-liquid-crystal-oi-aflc-display-mode-operating-over-a-wide-temperature-range-using-ternary-bent-core-liquid-crystal-mixtures
#3
Leah Bergquist, Cuiyu Zhang, Roberta R Ribeiro de Almeida, Brittany Pellegrene, Miroslaw Salamonczyk, Matthew Kim, Jung-Im Hwang, Kyeong-Jin Kim, Joun-Ho Lee, Antal Jákli, Torsten Hegmann
We report on the synthesis and characterization of bent-core liquid crystal (LC) compounds and the preparation of mixtures that provide an optically isotropic antiferroelectric (OI-AFLC) liquid crystal display mode over a very wide temperature interval and well below room temperature. From the collection of compounds synthesized during this study, we recognized that several ternary mixtures displayed a modulated SmCaPA phase down to below -40 °C and up to about 100 °C on both heating and cooling, as well as optical tilt angles in the transformed state of approximately 45° (optically isotropic state)...
April 2017: ChemistryOpen
https://www.readbyqxmd.com/read/28413186/the-characterization-of-a-full-thickness-excision-open-foot-wound-model-in-n5-streptozotocin-stz-induced-type-2-diabetic-rats-that-mimics-diabetic-foot-ulcer-in-terms-of-reduced-blood-circulation-higher-c-reactive-protein-elevated-inflammation-and-reduced-cell
#4
Caroline Oi-Ling Yu, Kwok-Sui Leung, Kwok-Pui Fung, Francis Fu-Yuen Lam, Ethel Sau-Kuen Ng, Kit-Man Lau, Simon Kwoon-Ho Chow, Wing-Hoi Cheung
Delayed foot wound healing is a major complication attributed to hyperglycemia in type 2 diabetes mellitus (DM) patients, and these wounds may develop into foot ulcers. There are at least two types of DM wound models used in rodents to study delayed wound healing. However, clinically relevant animal models are not common. Most models use type 1 DM rodents or wounds created on the back rather than on the foot. An open full-thickness excision wound on the footpad of type 2 DM rats is more clinically relevant, but such a model has not yet been characterized systematically...
April 11, 2017: Experimental Animals
https://www.readbyqxmd.com/read/28401152/hemodynamic-analysis-of-pediatric-septic-shock-and-cardiogenic-shock-using-transpulmonary-thermodilution
#5
En-Pei Lee, Shao-Hsuan Hsia, Jainn-Jim Lin, Oi-Wa Chan, Jung Lee, Chia-Ying Lin, Han-Ping Wu
Septic shock and cardiogenic shock are the two most common types of shock in children admitted to pediatric intensive care units (PICUs). The aim of the study was to investigate which hemodynamic variables were associated with mortality in children with shock. We retrospectively analyzed 50 children with shock (37 septic shock cases and 13 cardiogenic shock cases) in the PICU and monitored their hemodynamics using transpulmonary thermodilution from 2003 to 2016. Clinical factors were analyzed between the patients with septic and cardiogenic shock...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28400738/grammar-is-differentially-impaired-in-subgroups-of-autism-spectrum-disorders-evidence-from-an-investigation-of-tense-marking-and-morphosyntax
#6
Nadezhda Modyanova, Alexandra Perovic, Ken Wexler
Deficits in the production of verbal inflection (tense marking, or finiteness) are part of the Optional Infinitive (OI) stage of typical grammatical development. They are also a hallmark of language impairment: they have been used as biomarkers in guiding genetic studies of Specific Language Impairment (SLI), and have also been observed in autism spectrum disorders (ASD). To determine the detailed nature of finiteness abilities in subgroups of ASD [autism with impaired language (ALI) vs. autism with normal language (ALN)], we compared tense marking abilities in 46 children with ALI and 37 children with ALN with that of two groups of nonverbal mental age (MA) and verbal MA-matched typically developing (TD) controls, the first such study described in the literature...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28398160/should-young-children-with-tbi-be-compared-to-community-or-orthopedic-control-participants
#7
Miriam Helen Beauchamp, Catherine Landry-Roy, Jocelyn Gravel, Cindy Beaudoin, Annie Bernier
Pediatric traumatic brain injury (TBI) research depends on comparisons of profiles and outcome between brain injured individuals and groups consisting either of injured controls (e.g., orthopedic injuries, OI) or uninjured, typically developing children recruited from the community (community controls, CC). Children with OI are thought to provide optimal comparisons for individuals with TBI because they share injury-related experiences and pre-morbid characteristics; however, a study by Mathias and colleagues (2013) in adults has called into question the added value of injury control groups in TBI research...
April 11, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28396763/neonatal-mucolipidosis-type-ii-alpha-beta-due-to-compound-heterozygosity-for-a-known-and-novel-gnptab-mutation-and-a-concomitant-heterozygous-change-in-serpinf1-inherited-from-the-mother
#8
Kirsten A Wood, Regina M Zambrano, Bradley J Cheek, Christopher Arcement, Marie Haymon, Jessica Steinkampf, Srirangan Sampath, James C Hyland, Yves Lacassie
We report on a newborn with IUGR, rhizomelic dwarfism, and suspected chondrodysplasia punctata. At birth, OI was suspected; however, a skeletal survey suggested ML II alpha/beta. Sequencing revealed compound heterozygosity for a reported pathogenic and novel but expected pathogenic GNPTAB variant. Molecular testing for autosomal recessive OI identified a SERPINF1 variant.
April 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28396251/gene-expression-profiling-of-bone-marrow-mesenchymal-stem-cells-from-osteogenesis-imperfecta-patients-during-osteoblast-differentiation
#9
Carla Martins Kaneto, Patrícia S Pereira Lima, Karen Lima Prata, Jane Lima Dos Santos, João Monteiro de Pina Neto, Rodrigo Alexandre Panepucci, Houtan Noushmehr, Dimas Tadeu Covas, Francisco José Alburquerque de Paula, Wilson Araújo Silva
Mesenchymal stem cells (MSCs) are precursors present in adult bone marrow that are able to differentiate into osteoblasts, adipocytes and chondroblasts that have gained great importance as a source for cell therapy. Recently, a number of studies involving the analysis of gene expression of undifferentiated MSCs and of MSCs in the differentiation into multiple lineage processes were observed but there is no information concerning the gene expression of MSCs from Osteogenesis Imperfecta (OI) patients. Osteogenesis Imperfecta is characterized as a genetic disorder in which a generalized osteopenia leads to excessive bone fragility and severe bone deformities...
April 7, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28396189/external-counterpulsation-increases-beat-to-beat-heart-rate-variability-in-patients-with-ischemic-stroke
#10
Li Xiong, Ge Tian, Li Wang, Wenhua Lin, Xiangyan Chen, Thomas Wai Hong Leung, Yannie Oi Yan Soo, Lawrence Ka Sing Wong
BACKGROUND AND PURPOSE: External counterpulsation (ECP) is a noninvasive method used to augment cerebral perfusion in ischemic stroke. However, the response of beat-to-beat heart rate variability (HRV) in patients with ischemic stroke during ECP remains unknown. METHODS: Forty-eight patients with unilateral ischemic stroke at the subacute stage and 14 healthy controls were recruited. Beat-to-beat heart rate before, during, and after ECP was monitored. The frequency components of HRV were calculated using power spectral analysis...
April 7, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28394261/folate-cycle-enzyme-mthfd1l-confers-metabolic-advantages-in-hepatocellular-carcinoma
#11
Derek Lee, Iris Ming-Jing Xu, David Kung-Chun Chiu, Robin Kit-Ho Lai, Aki Pui-Wah Tse, Lynna Lan Li, Cheuk-Ting Law, Felice Ho-Ching Tsang, Larry Lai Wei, Cerise Yuen-Ki Chan, Chun-Ming Wong, Irene Oi-Lin Ng, Carmen Chak-Lui Wong
Cancer cells preferentially utilize glucose and glutamine, which provide macromolecules and antioxidants that sustain rapid cell division. Metabolic reprogramming in cancer drives an increased glycolytic rate that supports maximal production of these nutrients. The folate cycle, through transfer of a carbon unit between tetrahydrofolate and its derivatives in the cytoplasmic and mitochondrial compartments, produces other metabolites that are essential for cell growth, including nucleotides, methionine, and the antioxidant NADPH...
April 10, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28392051/evaluating-the-femoral-side-critical-corner-in-posterior-cruciate-ligament-reconstruction-the-effect-of-outside-in-versus-inside-out-creation-of-femoral-tunnels-on-graft-contact-pressure-in-a-synthetic-knee-model
#12
Steven J Narvy, George F Hatch, Hansel E Ihn, Nathanael D Heckmann, Michelle H McGarry, James E Tibone, Thay Q Lee
PURPOSE: To characterize and compare the graft contact characteristics of outside-in (OI) and inside-out (IO) femoral tunnels during single-bundle reconstruction of the anterolateral bundle of the posterior cruciate ligament in a synthetic knee model. METHODS: Femoral tunnels were separately made in 16 synthetic femora (8 OI and 8 IO). Achilles tendon allografts were fixed using suspensory fixation with a pressure sensor between the allograft and femoral tunnel...
April 6, 2017: Arthroscopy: the Journal of Arthroscopic & related Surgery
https://www.readbyqxmd.com/read/28389068/bone-mineral-density-measurements-around-osseointegrated-implants-a-precision-study-and-validation-of-scan-protocol-for-transfemoral-amputees
#13
Rehne Lessmann Hansen, Bente Lomholt Langdahl, Peter Holmberg Jørgensen, Klaus Kjær Petersen, Kjeld Søballe, Maiken Stilling
Visual evaluation of bone changes around an osseointegration (OI) implant in femoral amputees examined on plain radiographs shows that periprosthetic bone resorption takes place during the first years after OI surgery, but the bone mineral density (BMD) change has not been previously quantified by dual-energy X-ray absorptiometry (DXA). Precision is vital when monitoring BMD changes around implants, and thus the aim of this study was to evaluate the precision and feasibility of a scan protocol for BMD measurements in proximity of OI implants...
April 4, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28388598/cannabidiol-reduces-lung-injury-induced-by-hypoxic-ischemic-brain-damage-in-newborn-piglets
#14
Luis Arruza, Maria Ruth Pazos, Nagat Mohammed, Natalia Escribano, Hector Lafuente, Martín Santos, Francisco J Alvarez-Díaz, William Hind, Jose Martínez-Orgado
BACKGROUND: Brain hypoxic-ischemic (HI) damage induces distant inflammatory lung damage in newborn pigs. We aimed to investigate the effects of cannabidiol (CBD) on lung damage in this scenario. METHODS: Newborn piglets received i.v. vehicle, CBD or CBD+WAY100635 (5-HT1A receptor antagonist) after HI brain damage (carotid flow interruption and FiO2 0.10 for 30 min). Total lung compliance (TLC), oxygenation index (OI) and extravascular lung water content (EVLW) were monitored for six hours...
April 7, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28378545/opsonophagocytic-antibodies-to-serotype-ia-ib-and-iii-group-b-streptococcus-among-korean-infants-and-in-intravenous-immunoglobulin-products
#15
Han Wool Kim, Ji Hyen Lee, Hye Kyung Cho, Hyunju Lee, Ho Seong Seo, Soyoung Lee, Kyung Hyo Kim
Group B streptococcus (GBS) infection is a leading cause of sepsis and meningitis among infants, and is associated with high rates of morbidity and mortality in many countries. Protection against GBS typically involves antibody-mediated opsonization by phagocytes and complement components. The present study evaluated serotype-specific functional antibodies to GBS among Korean infants and in intravenous immunoglobulin (IVIG) products. An opsonophagocytic killing assay (OPA) was used to calculate the opsonization indices (OIs) of functional antibodies to serotypes Ia, Ib, and III in 19 IVIG products from 5 international manufacturers and among 98 Korean infants (age: 0-11 months)...
May 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28378289/molecular-diagnosis-in-children-with-fractures-but-no-extraskeletal-signs-of-osteogenesis-imperfecta
#16
G Bardai, L M Ward, P Trejo, P Moffatt, F H Glorieux, F Rauch
In 26 of 94 individuals (28%) below 21 years of age who had a significant fracture history but did not have extraskeletal features of osteogenesis imperfecta (OI), we detected disease-causing mutations in OI-associated genes. INTRODUCTION: In children who have mild bone fragility but do not have extraskeletal features of OI, it can be difficult to establish a diagnosis on clinical grounds. Here, we assessed the diagnostic yield of genetic testing in this context, by sequencing a panel of genes that are associated with OI...
April 4, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28377879/membranous-tracheal-stenosis-in-a-patient-with-anorexia-nervosa-and-self-induced-vomiting-challenges-in-securing-the-airway
#17
Motohiro Nakamura, Masaki Hisamura, Masayuki Hashimoto, Makoto Sawano, Midori Joshita, Takahiro Toi, Yoshitaka Asano, Hideyo Matsueda, Fumihito Arima, Hidenori Oi, Takehiro Kitawaki, Yoji Ando, Kenji Koshimizu
We report a rare case of acquired membranous tracheal stenosis in a patient with anorexia nervosa and a history of self-induced vomiting, but without a history of tracheal intubation or tracheostomy. A 50-year-old woman presented with difficulty in breathing and swallowing, self-expectoration, and impaired consciousness due to acute benzodiazepine intoxication. Bronchoscopic examination was performed after tracheotomy and placement of a tracheostomy tube failed to secure her respiratory tract and ventilation continued to deteriorate...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28375129/advanced-oxidation-of-acridine-orange-by-aqueous-alkaline-iodine
#18
Rafia Azmat, Noshab Qamar, Raheela Naz, Anum Khursheed
The advanced oxidation process is certainly used for the dye waste water treatment. In this continuation a new advanced oxidation via aqueous alkaline iodine was developed for the oxidation of acridine orange (AO) {3, 6 -bis (dimethylamino) acridine zinc chloride double salt}. Oxidation Kinetics of AO by alkaline solution of iodine was investigated spectrophotometrically at λmax 491 nm. The reaction was monitored at various operational parameters like several concentrations of dye and iodine, pH, salt electrolyte and temperature...
November 2016: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28374954/multifunctional-gadolinium-doped-mesoporous-tio2-nanobeads-photoluminescence-enhanced-spin-relaxation-and-reactive-oxygen-species-photogeneration-beneficial-for-cancer-diagnosis-and-treatment
#19
Roghayeh Imani, Ralf Dillert, Detlef W Bahnemann, Meysam Pazoki, Tomaž Apih, Veno Kononenko, Neža Repar, Veronika Kralj-Iglič, Gerrit Boschloo, Damjana Drobne, Tomas Edvinsson, Aleš Iglič
Materials with controllable multifunctional abilities for optical imaging (OI) and magnetic resonant imaging (MRI) that also can be used in photodynamic therapy are very interesting for future applications. Mesoporous TiO2 sub-micrometer particles are doped with gadolinium to improve photoluminescence functionality and spin relaxation for MRI, with the added benefit of enhanced generation of reactive oxygen species (ROS). The Gd-doped TiO2 exhibits red emission at 637 nm that is beneficial for OI and significantly improves MRI relaxation times, with a beneficial decrease in spin-lattice and spin-spin relaxation times...
April 4, 2017: Small
https://www.readbyqxmd.com/read/28370407/bps804-anti-sclerostin-antibody-in-adults-with-moderate-osteogenesis-imperfecta-results-of-a-randomized-phase-2a-trial
#20
Francis H Glorieux, Jean-Pierre Devogelaer, Michaela Durigova, Stefan Goemaere, Sarah Hemsley, Franz Jakob, Uwe Junker, Jon Ruckle, Lothar Seefried, Peter J Winkle
TRIAL DESIGN: This 21-week, open-label, phase 2a trial aimed to evaluate the pharmacodynamics and safety of multiple, escalating infusions of BPS804, a neutralizing, anti-sclerostin antibody, in adults with moderate osteogenesis imperfecta (OI). METHODS: Patients received BPS804 (three escalating doses each separated by 2 weeks [5, 10 and 20 mg/kg]) or no treatment (reference group). The primary efficacy endpoints were mean changes from baseline to day 43 in: procollagen type 1 N-terminal propeptide (P1NP), procollagen type 1 C-terminal propeptide (P1CP), bone-specific alkaline phosphatase (BSAP), osteocalcin (OC) and type 1 collagen cross-linked C-telopeptide (CTX-1)...
March 29, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
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