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https://www.readbyqxmd.com/read/28334922/scn2a-deletion-improves-survival-and-brain-heart-dynamics-in-the-kcna1-null-mouse-model-of-sudden-unexpected-death-in-epilepsy-sudep
#1
Vikas Mishra, Bharat K Karumuri, Nicole M Gautier, Rui Liu, Timothy N Hutson, Stephanie L Vanhoof-Villalba, Ioannis Vlachos, Leonidas Iasemidis, Edward Glasscock
People with epilepsy have greatly increased probability of premature mortality due to sudden unexpected death in epilepsy (SUDEP). Identifying which patients are most at risk of SUDEP is hindered by a complex genetic etiology, incomplete understanding of the underlying pathophysiology, and lack of prognostic biomarkers. Here we evaluated heterozygous Scn2a gene deletion (Scn2a+/-) as a protective genetic modifier in the Kcna1 knockout mouse (Kcna1-/-) model of SUDEP, while searching for biomarkers of SUDEP risk embedded in electroencephalography (EEG) and electrocardiography (ECG) recordings...
March 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334780/eif4a3-deficient-human-ipscs-and-mouse-models-demonstrate-neural-crest-defects-that-underlie-richieri-costa-pereira-syndrome
#2
Emily E Miller, Gerson S Kobayashi, Camila M Musso, Miranda Allen, Felipe A A Ishiy, Luiz C de Caires Junior, Ernesto S G Guimarães, Karina Griesi-Oliveira, Roseli M Zechi-Ceide, Antonio Richieri-Costa, Debora R Bertola, Maria Rita Passos-Bueno, Debra L Silver
Biallelic loss-of-function mutations in the RNA binding protein EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial and limb malformations. However, the pathogenic cellular mechanisms responsible for this syndrome are entirely unknown. Here we used two complementary approaches, patient-derived induced pluripotent stem cells (iPSCs) and conditional Eif4a3 mouse models, to demonstrate that defective Neural Crest Cell (NCC) development explains RCPS craniofacial abnormalities...
March 2, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334762/missense-uros-mutations-causing-congenital-erythropoietic-porphyria-reduce-uros-homeostasis-that-can-be-rescued-by-proteasome-inhibition
#3
Jean-Marc Blouin, Ganeko Bernardo-Seisdedos, Emma Sasso, Julie Esteve, Cécile Ged, Magalie Lalanne, Arantza Sanz-Parra, Pedro Urquiza, Hubert de Verneuil, Oscar Millet, Emmanuel Richard
Congenital erythropoietic porphyria (CEP) is an inborn error of heme biosynthesis characterized by uroporphyrinogen III synthase (UROS) deficiency resulting in deleterious porphyrin accumulation in blood cells responsible for hemolytic anemia and cutaneous photosensitivity. We analyzed here the molecular basis of UROS impairment associated with twenty nine UROS missense mutations actually described in CEP patients. Using a computational and biophysical joint approach we predicted that most disease-causing mutations would affect UROS folding and stability...
February 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334688/preparation-of-poly-n-isopropylacrylamide-block-acrylic-acid-encapsulated-proteinaceous-microbubbles-for-delivery-of-doxorubicin
#4
Xiaochen Ma, Qingxia Liu
Inspired by theranostic technologies, we electrostatically loaded proteinaceous microbubbles (MBs) with a model drug, doxorubicin (Dox) to couple their utilizations in diagnostic imaging with drug loading. A temperature-sensitive polymer, poly(N-isopropylacrylamide-block-acrylic acid) (poly(NIPAM-b-AAc)) was used to encapsulate the Dox-loaded MBs to prevent premature release and to control the Dox release thermally. An LCST of 39°C, slightly higher than normal body temperatures, enables the release of Dox through a conformational change of the polymer shell upon moderate heating...
March 12, 2017: Colloids and Surfaces. B, Biointerfaces
https://www.readbyqxmd.com/read/28334569/incidence-and-risk-factors-of-caesarean-section-in-preterm-breech-births-a-population-based-cohort-study
#5
Elsa Lorthe, Mathilde Quere, Loïc Sentilhes, Pierre Delorme, Gilles Kayem
OBJECTIVES: To describe the incidence of breech presentation at 22-34 weeks' gestation, estimate the incidence of cesarean section delivery by cause of prematurity, and assess the factors associated with caesarean delivery in preterm breech births with preterm labor or preterm premature rupture of membranes. STUDY DESIGN: EPIPAGE 2 is a French national prospective population-based cohort study of preterm births that occurred in 546 maternity units in 2011. We estimated the overall incidence of breech presentation and the incidence of cesarean delivery by cause of prematurity...
March 10, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28334356/transient-cell-intrinsic-activity-regulates-the-migration-and-laminar-positioning-of-cortical-projection-neurons
#6
Nicolas Hurni, Marta Kolodziejczak, Ugo Tomasello, Joan Badia, Moritz Jacobshagen, Julien Prados, Alexandre Dayer
Neocortical microcircuits are built during development and require the coordinated assembly of excitatory glutamatergic projection neurons (PNs) into functional networks. Neuronal migration is an essential step in this process. In addition to cell-intrinsic mechanisms, external cues including neurotransmitters regulate cortical neuron migration, suggesting that early activity could influence this process. Here, we aimed to investigate the role of cell-intrinsic activity in migrating PNs in vivo using a designer receptor exclusively activated by a designer drug (DREADD) chemogenetic approach...
March 17, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28333323/high-ceftazidime-hydrolysis-activity-and-porin-ompk35-deficiency-contribute-to-the-decreased-susceptibility-to-ceftazidime-avibactam-in-kpc-producing-klebsiella-pneumoniae
#7
Zhen Shen, Baixing Ding, Meiping Ye, Peng Wang, Yingmin Bi, Shi Wu, Xiaogang Xu, Qinglan Guo, Minggui Wang
Objectives: To investigate mechanisms for the decreased susceptibility to ceftazidime/avibactam in KPC-producing Klebsiella pneumoniae (KPC-KP). Methods: A total of 24 isolates, 8 each with ceftazidime/avibactam MICs of 4-8, 1-2 and ≤0.5 mg/L, were randomly selected from 214 clinical isolates of KPC-KP, and the β-lactamase hydrolysis activity and porin expression profiles were determined. Plasmid profile and relative expression and copy number of the bla KPC gene were also analysed...
March 15, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28333275/anti-m%C3%A3-llerian-hormone-inhibits-activation-and-growth-of-bovine-ovarian-follicles-in-vitro-and-is-localized-to-growing-follicles
#8
M Y Yang, R A Cushman, J E Fortune
STUDY QUESTION: Does anti-Müllerian hormone (AMH) inhibit activation (initiation of growth) of primordial follicles and attenuate the growth of primary follicles in cattle, an excellent animal model for human ovarian follicular development? SUMMARY ANSWER: AMH inhibited activation of bovine primordial follicles and attenuated the growth of activated follicles in vitro. WHAT IS KNOWN ALREADY: In mice null mutant for AMH, the pool of primordial follicles is depleted prematurely and AMH inhibits follicle activation in vitro...
March 17, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28333228/efficacy-of-ovarian-tissue-cryopreservation-for-fertility-preservation-lessons-learned-from-545-cases
#9
P Jadoul, A Guilmain, J Squifflet, M Luyckx, R Votino, C Wyns, M M Dolmans
STUDY QUESTION: How effective is ovarian tissue cryopreservation (OTC)? SUMMARY ANSWER: In our cohort of patients who underwent OTC, premature ovarian failure (POF) rates, return rates and pregnancy rates after autotransplantation were 31.5, 4.4 and 33%, respectively. WHAT IS KNOWN ALREADY: OTC for fertility purposes has been performed for >20 years now. With over 86 live births reported worldwide and success rates of ~30% after autotransplantation of frozen-thawed ovarian cortex, the procedure should no longer be considered experimental...
March 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28333078/telemedicine-applications-in-pediatric-retinal-disease
#10
REVIEW
Akhilesh S Pathipati, Darius M Moshfeghi
Teleophthalmology is a developing field that presents diverse opportunities. One of its most successful applications to date has been in pediatric retinal disease, particularly in screening for retinopathy of prematurity (ROP). Many studies have shown that using telemedicine for ROP screening allows a remote ophthalmologist to identify abnormal findings and implement early interventions. Here, we review the literature on uses of telemedicine in pediatric retinal disease and consider future applications.
March 23, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28331842/estimation-of-burden-of-ischemic-heart-diseases-in-isfahan-iran-2014-using-incompleteness-and-misclassification-adjustment-models
#11
Mehran Shams-Beyranvand, Farshad Farzadfar, Shohreh Naderimagham, Maryam Tirani, Mohammad Reza Maracy
BACKGROUND: Over the past decade, cardiovascular diseases (CVDs) have been the leading cause of death in the world. Ischemic heart diseases (IHDs) are the main form of CVDs and are the most important single cause of death around the world. This study aimed to estimate the burden of IHDs in the city of Isfahan by calculating disability-adjusted life years (DALYs). METHODS: This population-based study was conducted on the population living in the city of Isfahan in 2014...
2017: Journal of Diabetes and Metabolic Disorders
https://www.readbyqxmd.com/read/28331629/congenital-diaphragmatic-hernia-a-review
#12
REVIEW
Praveen Kumar Chandrasekharan, Munmun Rawat, Rajeshwari Madappa, David H Rothstein, Satyan Lakshminrusimha
Congenital Diaphragmatic hernia (CDH) is a condition characterized by a defect in the diaphragm leading to protrusion of abdominal contents into the thoracic cavity interfering with normal development of the lungs. The defect may range from a small aperture in the posterior muscle rim to complete absence of diaphragm. The pathophysiology of CDH is a combination of lung hypoplasia and immaturity associated with persistent pulmonary hypertension of newborn (PPHN) and cardiac dysfunction. Prenatal assessment of lung to head ratio (LHR) and position of the liver by ultrasound are used to diagnose and predict outcomes...
2017: Maternal Health, Neonatology and Perinatology
https://www.readbyqxmd.com/read/28331291/pharmacokinetics-and-tolerability-of-da-8031-a-novel-selective-serotonin-reuptake-inhibitor-for-premature-ejaculation-in-healthy-male-subjects
#13
Dongseong Shin, SeungHwan Lee, Sojeong Yi, Seo Hyun Yoon, Joo-Youn Cho, Mi Young Bahng, In-Jin Jang, Kyung-Sang Yu
OBJECTIVE: DA-8031 is a selective serotonin reuptake inhibitor under development for the treatment of premature ejaculation. This is the first-in-human study aimed at evaluating the pharmacokinetics and tolerability of DA-8031 and its metabolites (M1, M2, M4, and M5) in the plasma and urine after administration of a single oral dose in healthy male subjects. METHODS: A dose block-randomized, double-blind, placebo-controlled, single ascending dose study was conducted...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/28331195/galactose-and-its-metabolites-deteriorate-metaphase-ii-mouse-oocyte-quality-and-subsequent-embryo-development-by-disrupting-the-spindle-structure
#14
Mili Thakur, Faten Shaeib, Sana N Khan, Hamid-Reza Kohan-Ghadr, Roohi Jeelani, Sarah R Aldhaheri, Bernard Gonik, Husam M Abu-Soud
Premature ovarian insufficiency (POI) is a frequent long-term complication of classic galactosemia. The majority of women with this disorder develop POI, however rare spontaneous pregnancies have been reported. Here, we evaluate the effect of D-galactose and its metabolites, galactitol and galactose 1-phosphate, on oocyte quality as well as embryo development to elucidate the mechanism through which these compounds mediate oocyte deterioration. Metaphase II mouse oocytes (n = 240), with and without cumulus cells (CCs), were exposed for 4 hours to D-galactose (2 μM), galactitol (11 μM) and galactose 1-phosphate (0...
March 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28331068/mutations-in-efl1-an-sbds-partner-are-associated-with-infantile-pancytopenia-exocrine-pancreatic-insufficiency-and-skeletal-anomalies-in-a-shwachman-diamond-like-syndrome
#15
Polina Stepensky, Montserrat Chacón-Flores, Katherine H Kim, Omar Abuzaitoun, Arnulfo Bautista-Santos, Natalia Simanovsky, Dritan Siliqi, Davide Altamura, Alfonso Méndez-Godoy, Abril Gijsbers, Adeeb Naser Eddin, Talia Dor, Joel Charrow, Nuria Sánchez-Puig, Orly Elpeleg
BACKGROUND: For the final step of the maturation of the ribosome, the nascent 40S and 60S subunits are exported from the nucleus to the cell cytoplasm. To prevent premature association of these ribosomal subunits, eukaryotic initiation factor 6 (eIF6) binds the 60S subunit within the nucleus. Its release in the cytoplasm requires the interaction of EFL1 and SDBS proteins. In Shwachman-Diamond syndrome (SDS), a defective SDBS protein prevents eIF6 eviction, inhibiting its recycle to the nucleus and subsequent formation of the active 80S ribosome...
March 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28330905/secretogranin-iii-as-a-disease-associated-ligand-for-antiangiogenic-therapy-of-diabetic-retinopathy
#16
Michelle E LeBlanc, Weiwen Wang, Xiuping Chen, Nora B Caberoy, Feiye Guo, Chen Shen, Yanli Ji, Hong Tian, Hui Wang, Rui Chen, Wei Li
Diabetic retinopathy (DR) is a leading cause of vision loss with retinal vascular leakage and/or neovascularization. Current antiangiogenic therapy against vascular endothelial growth factor (VEGF) has limited efficacy. In this study, we applied a new technology of comparative ligandomics to diabetic and control mice for the differential mapping of disease-related endothelial ligands. Secretogranin III (Scg3) was discovered as a novel disease-associated ligand with selective binding and angiogenic activity in diabetic but not healthy vessels...
March 22, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28330778/intratracheal-lps-administration-attenuates-the-acute-hypoxic-ventilatory-response-role-of-brainstem-il-1%C3%AE-receptors
#17
A P Ribeiro, C A Mayer, C G Wilson, R J Martin, P M MacFarlane
Perinatal inflammation and infection are commonly associated with various respiratory morbidities in preterm infants including apnea of prematurity. In this study, we investigated whether pulmonary inflammation via intra-tracheal micro-injection of lipopolysaccharide (LPS) into neonatal rats modifies respiratory neural control via an IL-1β receptor-dependent mechanism. Prior to an intra-tracheal micro-injection of LPS (1mg/kg), 10day old (Postnatal age, P10) rats received an intraperitoneal (i.p.) or intracisternal (i...
March 19, 2017: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/28330645/design-of-fixed-dose-combination-and-physicochemical-characterization-of-enteric-coated-bilayer-tablet-with-circadian-rhythmic-variations-containing-telmisartan-and-pravastatin-sodium
#18
Daoqi Luo, Joo Hee Kim, Chulhun Park, Euichaul Oh, Jun Bum Park, Jing-Hao Cui, Qing-Ri Cao, Beom-Jin Lee
The aim of this study was to investigate a fixed dose combination (FDC) of telmisartan (TEL) and pravastatin sodium (PRA) in enteric-coated bilayer tablets, which was designed for once-daily bedtime dose in order to match circadian rhythmic variations of hypertension and cholesterol synthesis and optimize the patient friendly dosing treatment. Due to the poor aqueous solubility of TEL, a ternary solid dispersions (SD) consisting of TEL, polyethylene glycol 6000 (PEG 6000) and magnesium oxide (MgO) were designed to enhance its dissolution rate in intestinal fluid...
March 18, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/28330560/an-event-of-alternative-splicing-affects-the-expression-of-the-ntrc-gene-encoding-nadph-thioredoxin-reductase-c-in-seed-plants
#19
Victoria A Nájera, María Cruz González, Juan Manuel Pérez-Ruiz, Francisco Javier Cejudo
The NTRC gene encodes a NADPH-dependent thioredoxin reductase with a joint thioredoxin domain, exclusive of photosynthetic organisms. An updated search shows that although most species harbor a single copy of the NTRC gene, two copies were identified in different species of the genus Solanum, Glycine max and the moss Physcomitrella patens. The phylogenetic analysis of NTRCs from different sources produced a tree with the major groups of photosynthetic organisms: cyanobacteria, algae and land plants, indicating the evolutionary success of the NTRC gene among photosynthetic eukaryotes...
May 2017: Plant Science: An International Journal of Experimental Plant Biology
https://www.readbyqxmd.com/read/28329947/-air-pollution-and-adverse-birth-outcome-in-china-a-comprehensive-review
#20
P F Zhu, Y Zhang, J Ban, T T Li, X M Shi
Objective: To summarize the progress in the research of the association between air pollution and adverse birth outcomes in China. Methods: A literature retrieval was conducted by using the databases of CNKI, Wanfang, Pubmed, Science Direct, and Web of Science to select relevant research papers published before 30(th), June 2016 in China according to inclusion criteria. Finally, 27 papers were included in analysis. Results: Exposure to particulate matter (PM(10)), sulfur dioxide (SO(2)), nitrogen dioxide (NO(2)), total suspended particles (TSP) during pregnancy might increase risk for low birth weight; exposure to PM(10), SO(2), NO(2) during pregnancy might increase risk for premature birth; and exposure to SO(2), NO(2), ozone (O(3)), and PM(10) during pregnancy might increase risk for congenital heart diseases and other birth defects...
March 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
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