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https://www.readbyqxmd.com/read/28530468/genetic-susceptibility-contributing-to-periodontal-and-cardiovascular-disease
#1
G Aarabi, T Zeller, H Seedorf, D R Reissmann, G Heydecke, A S Schaefer, U Seedorf
Periodontal disease (PD) and coronary artery disease (CAD) are common diseases characterized by an overaggressive inflammatory response to diverse stimuli. Whereas PD leads to destruction of the tooth-supporting structures, CAD is a chronic inflammatory condition ultimately causing myocardial infarction via narrowing and occluding of blood vessels. Classical twin studies led to the conclusion that both complex diseases have a similar degree of heritability and that a significant fraction of the genetic factors accounting for this heritability is shared...
June 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28530172/the-causes-and-prevention-of-symptoms-in-premature-babies
#2
Wolfgang Hammerstein
No abstract text is available yet for this article.
April 28, 2017: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28528756/necrotizing-enterocolitis-in-low-birth-weight-infants-in-china-mortality-risk-factors-expressed-by-birth-weight-categories
#3
Tian Qian, Rong Zhang, Li Zhu, Peng Shi, Jie Yang, Chang-Yi Yang, Dong-Mei Chen, Jing-Yun Shi, Xiao-Guang Zhou, Yin-Ping Qiu, Yong Yang, Ling He, Shao-Ru He, Yun-Tao Cao, Qiu-Fen Wei, Manoj Kumar, Chao Chen
BACKGROUND: We retrospectively investigated incidence, morbidity, and mortality of neonatal necrotizing enterocolitis in China, with special emphasis on determining the predictors of necrotizing enterocolitis associated mortality. METHODS: We identified neonates as having necrotizing enterocolitis if they met the accepted diagnostic criterion. Data pertaining to antenatal period, labor and birth, and the postnatal course of illness were collected. Multivariate analysis and logistic regression were used to analyze the risk factors...
April 12, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28528424/trps1-gene-alterations-in-human-subependymoma
#4
Sascha B Fischer, Michelle Attenhofer, Sakir H Gultekin, Donald A Ross, Karl Heinimann
Subependymoma is a rare primary brain tumor, constituting 0.07-0.51% of brain tumors. Genetic alterations in subependymoma are largely unknown, but familial occurrences have been reported. Trichorhinophalangeal syndrome type 1 (TRPS1) is a rare hereditary malformation complex caused by mutations in a gene identified in the year 2000 on 8q24.12. We report two patients with TRPS I and surgically treated subependymomas, one of whom has a first degree relative, now deceased, who was affected and also had a subependymoma...
May 20, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28527297/hyaluronic-acid-nanogels-prepared-via-ortho-ester-linkages-show-ph-triggered-behavior-enhanced-penetration-and-antitumor-efficacy-in-3-d-tumor-spheroids
#5
Guanqing Yang, Shengxiang Fu, Weijing Yao, Xin Wang, Qian Zha, Rupei Tang
A new type of pH-triggered hyaluronic acid nanogel system (HA-NGs) was successfully developed for tumor-targeted delivery of drugs. HA-NGs were obtained by copolymerization between methacrylate HA and a new cross-linker containing ortho ester groups in an aqueous solution. The therapeutic drug (DOX) was loaded into the HA-NGs (DOX@HA-NGs) and exhibited appropriate loading of about 17.3% with a size of around 200nm. Such new pH-triggered HA-NGs are found to be highly desirable for targeted cancer therapy because it could significantly minimize the amount of premature drug release in neutral pH, and also provide a sufficient amount of drug to effectively kill the cancer cells caused by the degradation of ortho ester groups at acid pH values...
May 12, 2017: Journal of Colloid and Interface Science
https://www.readbyqxmd.com/read/28527266/-risk-factors-associated-with-the-development-of-perinatal-asphyxia-in-neonates-at-the-hospital-universitario-del-valle-cali-colombia-2010-2011
#6
Javier Torres-Muñoz, Christian Rojas, Diana Mendoza-Urbano, Darly Marín-Cuero, Sandra Orobio, Carlos Echandía
INTRODUCTION: Perinatal asphyxia is one of the main causes of perinatal mortality and morbidity worldwide and it generates high costs for health systems; however, it has modifiable risk factors. OBJECTIVE: To identify the risk factors associated with the development of perinatal asphyxia in newborns at Hospital Universitario del Valle, Cali, Colombia. MATERIALS AND METHODS: Incident cases and concurrent controls were examined. Cases were defined as newborns with moderate to severe perinatal asphyxia who were older than or equal to 36 weeks of gestational age, needed advanced resuscitation and presented one of the following: early neurological disorders, multi-organ commitment or a sentinel event...
April 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28526452/gestational-age-at-initiation-of-17-alpha-hydroxyprogesterone-caproate-and-recurrent-preterm-birth
#7
Angela Ning, Catherine J Vladutiu, Sarah K Dotters-Katz, William H Goodnight, Tracy A Manuck
BACKGROUND: Preterm birth (PTB) is the leading cause of neonatal morbidity and mortality in non-anomalous neonates in the US. Women with a previous early spontaneous PTB are at highest risk for recurrence. Weekly intramuscular 17-alpha hydroxyprogesterone caproate (17-OHPC) reduces the risk of recurrent prematurity. Though current guidelines recommend 17-OHPC initiation between 16-20 weeks', in clinical practice, 17-OHPC is started across a spectrum of gestational ages. OBJECTIVE: To examine the relationship between the gestational age at 17-OHPC initiation and recurrent PTB among women a prior spontaneous PTB 16-28 weeks' gestation...
May 16, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28524856/histone-variant-h3-3-orchestrates-neural-stem-cell-differentiation-in-the-developing-brain
#8
Wenlong Xia, Jianwei Jiao
During the brain development, the process of neural stem cells (NSCs) proliferation and differentiation is precisely regulated. The deficiency in the embryonic brain development will cause serious developmental disorders. Epigenetic modifications play critical roles in controlling proliferation and differentiation in different types of stem cells. Histone variants, as one of epigenetic regulators, have been reported to be associated with many bioprocesses. Among different variants, H3.3 is one of the important epigenetic regulators, but its role in embryonic NSCs remains unclear...
May 19, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28524730/recent-advances-in-genetic-testing-for-familial-hypercholesterolemia
#9
Michael A Iacocca, Robert A Hegele
Familial hypercholesterolemia (FH) is a common genetic cause of premature coronary heart disease that is widely underdiagnosed and undertreated. To improve the identification of FH and initiate timely and appropriate treatment strategies, genetic testing is becoming increasingly offered worldwide as a central part of diagnosis. Areas covered: Recent advances have been propelled by an improved understanding of the genetic determinants of FH together with substantially reduced costs of appropriate screening strategies...
May 19, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28523526/iris-fixated-phakic-intraocular-lens-implantation-in-an-adult-with-retinopathy-of-prematurity-1-year-follow-up
#10
Young Shin Kim, Jin Kwon Chung, Sung Jin Lee
PURPOSE: To report a case of iris-fixated phakic intraocular lens (pIOL) implantation in a patient with an extremely steep cornea, shallow anterior chamber, and small corneal diameter caused by retinopathy of prematurity (ROP) and scleral encircling. METHODS: Case report. RESULTS: Iris-fixated pIOLs were implanted in a 19-year-old patient with refraction of -18.5 -0.75 × 180 in the right eye and -15.5 -1.25 × 180 in the left eye. The keratometric values were 53...
May 18, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28521875/exome-sequencing-reveals-a-de-novo-pold1-mutation-causing-phenotypic-variability-in-mandibular-hypoplasia-deafness-progeroid-features-and-lipodystrophy-syndrome-mdpl
#11
Sahar Elouej, Ana Beleza-Meireles, Richard Caswell, Kevin Colclough, Sian Ellard, Jean Pierre Desvignes, Christophe Béroud, Nicolas Lévy, Shehla Mohammed, Annachiara De Sandre-Giovannoli
BACKGROUND: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance and metabolic abnormalities. This syndrome is caused by heterozygous de novo mutations in the POLD1 gene. To date, 19 patients with MDPL have been reported in the literature and among them 14 patients have been characterized at the molecular level. Twelve unrelated patients carried a recurrent in-frame deletion of a single codon (p...
June 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28521581/association-between-the-use-of-magnesium-sulfate-as-neuroprotector-in-prematurity-and-the-neonatal-hemodynamic-effects
#12
Rodrigo Dias Nunes, Flávia Duarte Schutz, Jefferson Luiz Traebert
PURPOSE: Cerebral palsy is often associated with prematurity and magnesium sulfate (MgSO4), has been used as neuroprotector, with favorable results. However, its mechanism of action has not been fully elucidated. This study aimed to evaluate the association between MgSO4 at the imminent premature delivery and neonatal hemodynamic effects. MATERIALS AND METHODS: A cross-sectional study involving 94 newborns (NB) between 24 and 32 weeks at a Brazilian hospital was performed...
May 19, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28516917/maternal-age-dependent-apc-c-mediated-decrease-in-securin-causes-premature-sister-chromatid-separation-in-meiosis-ii
#13
Ibtissem Nabti, Rosanna Grimes, Hema Sarna, Petros Marangos, John Carroll
Sister chromatid attachment during meiosis II (MII) is maintained by securin-mediated inhibition of separase. In maternal ageing, oocytes show increased inter-sister kinetochore distance and premature sister chromatid separation (PSCS), suggesting aberrant separase activity. Here, we find that MII oocytes from aged mice have less securin than oocytes from young mice and that this reduction is mediated by increased destruction by the anaphase promoting complex/cyclosome (APC/C) during meiosis I (MI) exit. Inhibition of the spindle assembly checkpoint (SAC) kinase, Mps1, during MI exit in young oocytes replicates this phenotype...
May 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28515884/cooperative-breeding-shapes-post-fledging-survival-in-an-afrotropical-forest-bird
#14
Dries Van de Loock, Diederik Strubbe, Liesbeth De Neve, Mwangi Githiru, Erik Matthysen, Luc Lens
For avian group living to be evolutionary stable, multiple fitness benefits are expected. Yet, the difficulty of tracking fledglings, and thus estimating their survival rates, limits our knowledge on how such benefits may manifest postfledging. We radio-tagged breeding females of the Afrotropical cooperatively breeding Placid greenbul (Phyllastrephus placidus) during nesting. Tracking these females after fledging permitted us to locate juvenile birds, their parents, and any helpers present and to build individual fledgling resighting datasets without incurring mortality costs or causing premature fledging due to handling or transmitter effects...
May 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28515277/histone-chaperone-hira-regulates-neural-progenitor-cell-proliferation-and-neurogenesis-via-%C3%AE-catenin
#15
Yanxin Li, Jianwei Jiao
Histone cell cycle regulator (HIRA) is a histone chaperone and has been identified as an epigenetic regulator. Subsequent studies have provided evidence that HIRA plays key roles in embryonic development, but its function during early neurogenesis remains unknown. Here, we demonstrate that HIRA is enriched in neural progenitor cells, and HIRA knockdown reduces neural progenitor cell proliferation, increases terminal mitosis and cell cycle exit, and ultimately results in premature neuronal differentiation. Additionally, we demonstrate that HIRA enhances β-catenin expression by recruiting H3K4 trimethyltransferase Setd1A, which increases H3K4me3 levels and heightens the promoter activity of β-catenin...
May 17, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28510640/increased-risk-of-premature-death-following-teenage-abortion-and-childbirth-a-longitudinal-cohort-study
#16
Eerika Jalanko, Suvi Leppälahti, Oskari Heikinheimo, Mika Gissler
Teenage pregnancy is associated with an increased risk of premature death. However, it is not known whether the outcome of pregnancy, i.e. induced abortion or childbirth, affects this risk. A Finnish population-based register study involving a cohort of 13 691 nulliparous teenagers who conceived in 1987-89; 6652 of them underwent induced abortion and 7039 delivered. The control group consisted of 41 012 coeval women without teenage pregnancy. Follow-up started at the end of pregnancy and lasted until 6th June 2013...
May 16, 2017: European Journal of Public Health
https://www.readbyqxmd.com/read/28507511/distribution-of-elovl4-in-the-developing-and-adult-mouse-brain
#17
David M Sherry, Blake R Hopiavuori, Megan A Stiles, Negar S Rahman, Kathryn G Ozan, Ferenc Deak, Martin-Paul Agbaga, Robert E Anderson
ELOngation of Very Long chain fatty acids (ELOVL)-4 is essential for the synthesis of very long chain-fatty acids (fatty acids with chain lengths ≥ 28 carbons). The functions of ELOVL4 and its very long-chain fatty acid products are poorly understood at present. However, mutations in ELOVL4 cause neurodevelopmental or neurodegenerative diseases that vary according to the mutation and inheritance pattern. Heterozygous inheritance of different ELOVL4 mutations causes Stargardt-like Macular Dystrophy or Spinocerebellar Ataxia type 34...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/28507431/targeted-drugs-for-pulmonary-arterial-hypertension-a-network-meta-analysis-of-32-randomized-clinical-trials
#18
Xiao-Fei Gao, Jun-Jie Zhang, Xiao-Min Jiang, Zhen Ge, Zhi-Mei Wang, Bing Li, Wen-Xing Mao, Shao-Liang Chen
BACKGROUND: Pulmonary arterial hypertension (PAH) is a devastating disease and ultimately leads to right heart failure and premature death. A total of four classical targeted drugs, prostanoids, endothelin receptor antagonists (ERAs), phosphodiesterase 5 inhibitors (PDE-5Is), and soluble guanylate cyclase stimulator (sGCS), have been proved to improve exercise capacity and hemodynamics compared to placebo; however, direct head-to-head comparisons of these drugs are lacking. This network meta-analysis was conducted to comprehensively compare the efficacy of these targeted drugs for PAH...
2017: Patient Preference and Adherence
https://www.readbyqxmd.com/read/28505061/novel-ofd1-frameshift-mutation-in-a-chinese-boy-with-joubert-syndrome-a-case-report-and-literature-review
#19
Kaihui Zhang, Chen Meng, Jing Ma, Min Gao, Yuqiang Lv, Yi Liu, Zhongtao Gai
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'molar tooth sign' in brain MRI. So far, over 20 causative genes have been identified, but only one gene (OFD1) results in X-linked Joubert syndrome 10 (JBTS10). Six mutations in the OFD1 gene have been found to cause JBTS10. In this study, we identified a novel OFD1 mutation of c.2843_2844 delAA (p.Lys948ArgfsX) in a 3-month-old boy with a 'molar tooth sign' and clinical features of JBTS using targeted exome next-generation sequencing...
May 12, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28504079/a-novel-nonsense-nbeal2-gene-mutation-causing-severe-bleeding-in-a-patient-with-gray-platelet-syndrome
#20
Lijuan Cao, Jian Su, Jiaming Li, Ziqiang Yu, Xia Bai, Zhaoyue Wang, Lijun Xia, Changgeng Ruan
Gray platelet syndrome (GPS) is a rare, inherited bleeding disorder characterized by the defect of platelet α-granule. Up to date, these are only four studies identifying NBEAL2 gene correlated with GPS. In the current report, we present a Chinese GPS patient who had severe bleeding tendency, abnormalities of platelet functions, and absence of platelet α-granules. Genomic DNA sequencing for the patient identified a nonsense mutation (g.27713C>A) of NBEAL2 gene (g.NG_031914.1) resulting in a premature protein (p...
May 15, 2017: Platelets
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