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causes of prematurity

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https://www.readbyqxmd.com/read/28817704/analysis-of-multidrug-resistant-group-b-streptococci-with-reduced-penicillin-susceptibility-forming-small-less-hemolytic-colonies
#1
Hirotsugu Banno, Kouji Kimura, Yosuke Tanaka, Tsuyoshi Sekizuka, Makoto Kuroda, Wanchun Jin, Jun-Ichi Wachino, Keiko Yamada, Keigo Shibayama, Yoshichika Arakawa
Group B streptococci (GBS; Streptococcus agalactiae) are the leading cause of neonatal invasive diseases and are also important pathogens for elderly adults. Until now, nearly all GBS with reduced penicillin susceptibility (PRGBS) have shown β-hemolytic activity and grow on sheep blood agar. However, we have previously reported three PRGBS clinical isolates harboring a CylK deletion that form small less hemolytic colonies. In this study, we examined the causes of small, less hemolytic colony formation in these clinical isolates...
2017: PloS One
https://www.readbyqxmd.com/read/28817333/the-epidemic-of-despair-among-white-americans-trends-in-the-leading-causes-of-premature-death-1999-2015
#2
Elizabeth M Stein, Keith P Gennuso, Donna C Ugboaja, Patrick L Remington
OBJECTIVES: To evaluate trends in premature death rates by cause of death, age, race, and urbanization level in the United States. METHODS: We calculated cause-specific death rates using the Compressed Mortality File, National Center for Health Statistics data for adults aged 25 to 64 years in 2 time periods: 1999 to 2001 and 2013 to 2015. We defined 48 subpopulations by 10-year age groups, race/ethnicity, and county urbanization level (large urban, suburban, small or medium metropolitan, and rural)...
August 17, 2017: American Journal of Public Health
https://www.readbyqxmd.com/read/28814713/gelsolin-dysfunction-causes-photoreceptor-loss-in-induced-pluripotent-cell-and-animal-retinitis-pigmentosa-models
#3
Roly Megaw, Hashem Abu-Arafeh, Melissa Jungnickel, Carla Mellough, Christine Gurniak, Walter Witke, Wei Zhang, Hemant Khanna, Pleasantine Mill, Baljean Dhillon, Alan F Wright, Majlinda Lako, Charles Ffrench-Constant
Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) cause X-linked RP (XLRP), an untreatable, inherited retinal dystrophy that leads to premature blindness. RPGR localises to the photoreceptor connecting cilium where its function remains unknown. Here we show, using murine and human induced pluripotent stem cell models, that RPGR interacts with and activates the actin-severing protein gelsolin, and that gelsolin regulates actin disassembly in the connecting cilium, thus facilitating rhodopsin transport to photoreceptor outer segments...
August 16, 2017: Nature Communications
https://www.readbyqxmd.com/read/28814627/prematurity-and-sudden-unexpected-infant-deaths-in-the-united-states
#4
Barbara M Ostfeld, Ofira Schwartz-Soicher, Nancy E Reichman, Julien O Teitler, Thomas Hegyi
BACKGROUND AND OBJECTIVES: Prematurity, a strong risk factor for sudden unexpected infant death (SUID), was addressed in recommendations by the American Academy of Pediatrics in 2011 for safe sleep education in NICUs. We documented associations between gestational age (GA) and SUID subsequent to these guidelines. METHODS: Using the 2012-2013 US linked infant birth and death certificate period files, we documented rates per live births of sudden infant death syndrome, ill-defined and unspecified causes, accidental suffocation and strangulation in bed, and overall SUID by GA in postneonatal, out-of-hospital, and autopsied cases; compared survivors and cases; and estimated logistic regression models of associations between GA and SUID...
June 5, 2017: Pediatrics
https://www.readbyqxmd.com/read/28814274/association-between-periodontal-disease-and-mortality-in-people-with-ckd-a-meta-analysis-of-cohort-studies
#5
Jian Zhang, Hong Jiang, Min Sun, Jianghua Chen
BACKGROUND: Periodontal disease occurs relatively prevalently in people with chronic kidney disease (CKD), but it remains indeterminate whether periodontal disease is an independent risk factor for premature death in this population. Interventions to reduce mortality in CKD population consistently yield to unsatisfactory results and new targets are necessitated. So this meta-analysis aimed to evaluate the association between periodontal disease and mortality in the CKD population. METHODS: Pubmed, Embase, Web of Science, Scopus and abstracts from recent relevant meeting were searched by two authors independently...
August 16, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28811927/premature-deaths-among-individuals-with-severe-mental-illness-after-discharge-from-long-term-hospitalisation-in-japan-a-naturalistic-observation-during-a-24-year-period
#6
Shinsuke Kondo, Yousuke Kumakura, Akiko Kanehara, Daisuke Nagato, Taro Ueda, Tsuneo Matsuoka, Yukiko Tao, Kiyoto Kasai
BACKGROUND: Premature death in individuals with severe mental illness (SMI) in countries without nationally collected data, including Japan, is structurally underreported. AIMS: To elucidate excess mortality among individuals with SMI in Japan. METHOD: We retrospectively investigated all deaths among users of a non-clinical community-based mental health service provider in suburban Tokyo from 1992 to 2015. RESULTS: During the study period, 45 individuals died among 254 qualified registrants...
July 2017: BJPsych Open
https://www.readbyqxmd.com/read/28808495/the-most-frequent-abca3-nonsense-mutation-p-tyr1515-y1515x-causing-lethal-neonatal-respiratory-failure-in-a-term-neonate
#7
AlNashmi AlAnazi, Ralph Epaud, Humariya Heena, Alix de Becdelievre, Abeer Mohammad Miqdad, Pascale Fanen
Defects in the surfactant biosynthesis are associated with respiratory distress syndrome, commonly occurring in premature infants due to lung immaturity. However, interstitial lung diseases have also been observed in full-term infants with mutations in the SFTPC, SFTPB, NKX2-1, or ABCA3 genes, involved in the surfactant metabolism. Herein, we report a newborn baby with neonatal respiratory distress and diffuse lung disease caused by ABCA3 mutation. The baby died at 5 weeks of age after developing pulmonary hypertension...
July 2017: Annals of Thoracic Medicine
https://www.readbyqxmd.com/read/28808027/de-novo-mutations-in-inhibitors-of-wnt-bmp-and-ras-erk-signaling-pathways-in-non-syndromic-midline-craniosynostosis
#8
Andrew T Timberlake, Charuta G Furey, Jungmin Choi, Carol Nelson-Williams, Erin Loring, Amy Galm, Kristopher T Kahle, Derek M Steinbacher, Dawid Larysz, John A Persing, Richard P Lifton
Non-syndromic craniosynostosis (NSC) is a frequent congenital malformation in which one or more cranial sutures fuse prematurely. Mutations causing rare syndromic craniosynostoses in humans and engineered mouse models commonly increase signaling of the Wnt, bone morphogenetic protein (BMP), or Ras/ERK pathways, converging on shared nuclear targets that promote bone formation. In contrast, the genetics of NSC is largely unexplored. More than 95% of NSC is sporadic, suggesting a role for de novo mutations. Exome sequencing of 291 parent-offspring trios with midline NSC revealed 15 probands with heterozygous damaging de novo mutations in 12 negative regulators of Wnt, BMP, and Ras/ERK signaling (10...
August 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28807865/novel-compound-heterozygous-mutations-identified-by-whole-exome-sequencing-in-a-japanese-patient-with-geroderma-osteodysplastica
#9
Ryojun Takeda, Masaki Takagi, Hiroyuki Shinohara, Hiroshi Futagawa, Satoshi Narumi, Tomonobu Hasegawa, Gen Nishimura, Hiroshi Yoshihashi
Geroderma osteodysplastica (GO) is a subtype of cutis laxa syndrome characterized by congenital wrinkly skin, a prematurely aged face, extremely short stature, and osteoporosis leading to recurrent fractures. GO exhibits an autosomal recessive inheritance pattern and is caused by loss-of-function mutations in GORAB, which encodes a protein important for Golgi-related transport. Using whole exome sequencing, we identified novel compound heterozygous nonsense mutations in the GORAB in a GO patient. The patient was a 14-year-old Japanese boy...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28806732/loss-of-the-chromatin-modifier-kdm2aa-causes-brafv600e-independent-spontaneous-melanoma-in-zebrafish
#10
Catherine M Scahill, Zsofia Digby, Ian M Sealy, Sonia Wojciechowska, Richard J White, John E Collins, Derek L Stemple, Till Bartke, Marie E Mathers, E Elizabeth Patton, Elisabeth M Busch-Nentwich
KDM2A is a histone demethylase associated with transcriptional silencing, however very little is known about its in vivo role in development and disease. Here we demonstrate that loss of the orthologue kdm2aa in zebrafish causes widespread transcriptional disruption and leads to spontaneous melanomas at a high frequency. Fish homozygous for two independent premature stop codon alleles show reduced growth and survival, a strong male sex bias, and homozygous females exhibit a progressive oogenesis defect. kdm2aa mutant fish also develop melanomas from early adulthood onwards which are independent from mutations in braf and other common oncogenes and tumour suppressors as revealed by deep whole exome sequencing...
August 14, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28806457/neurodevelopmental-disorders-caused-by-de-novo-variants-in-kcnb1-genotypes-and-phenotypes
#11
Carolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, Nienke Verbeek, Bronwyn Kerr, Holly Dubbs, Allan Bayat, Sonal Desai, Sakkubai Naidu, Siddharth Srivastava, Hande Cagaylan, Uluc Yis, Carol Saunders, Martin Rook, Susanna Plugge, Hiltrud Muhle, Zaid Afawi, Karl-Martin Klein, Vijayakumar Jayaraman, Ramakrishnan Rajagopalan, Ethan Goldberg, Eric Marsh, Sudha Kessler, Christina Bergqvist, Laura K Conlin, Bryan L Krok, Isabelle Thiffault, Manuela Pendziwiat, Ingo Helbig, Tilman Polster, Ingo Borggraefe, Johannes R Lemke, Marie-José van den Boogaardt, Rikke S Møller, Bobby P C Koeleman
Importance: Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant will help clinicians with diagnosis and prognosis when treating new patients. Objectives: To investigate the clinical spectrum associated with KCNB1 variants and the genotype-phenotype correlations. Design, Setting, and Participants: This study summarized the clinical and genetic information of patients with a presumed pathogenic variant in KCNB1...
August 14, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28805194/-lung-cancer-and-copd-growing-clinical-problem
#12
EDITORIAL
Michal Tyl, Joanna Domagała-Kulawik
A spread of the addiction of tobacco smoking is valued on near 1 billion of people in the world, that involves growing number of morbidity and mortality by the reason of smoke related diseases. Lung cancer and chronic obstructive pulmonary disease (COPD) are the most serious and incurable diseases which are leading to a permanent disability as well as to premature death. There are factors that naturally increase the vulnerability of an individual on the coincidence of above disorders, such as pathophysiological conditions, systemic inflammation, bronchitis, emphysema, respiratory obstructive disease and precise genetic predispositions for COPD and lung cancer...
July 21, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28804562/premature-exhaustion-of-mesenchymal-stromal-cells-from-myelodysplastic-syndrome-patients
#13
Yanbin Pang, Chengxin Deng, Suxia Geng, Jianyu Weng, Peilong Lai, Pengjun Liao, Lingji Zeng, Zesheng Lu, Jing Zhang, Xin Du
Myelodysplastic syndrome (MDS) predominantly occurs in aging people. Over the past decades, the cellular and molecular pathologies of MDS cells have been intensively investigated. However, how the bone marrow stromal niches are altered during MDS development remains elusive. In this study, we attempted to isolate and characterize mesenchymal stromal cells (MSCs) from 30 MDS patients. We observed that only 9/30 bone marrow aspirations from MDS patients successfully formed a monolayer in vitro, while 17/17 bone marrow aspirations from normal donors (median age 45 years, range: 22-73 years) succeeded in this process...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28804536/combined-respiratory-chain-deficiency-and-uqcc2-mutations-in-neonatal-encephalomyopathy-defective-supercomplex-assembly-in-complex-iii-deficiencies
#14
René G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, Saskia B Wortmann, Reka Kovacs-Nagy, Tatjana Stojakovic, Wolfgang Erwa, Bernhard Resch, Werner Windischhofer, Sarah Verheyen, Sabine Uhrig, Christian Windpassinger, Felix Locker, Christine Makowski, Tim M Strom, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl, Tobias B Haack, Johannes A Mayr
Vertebrate respiratory chain complex III consists of eleven subunits. Mutations in five subunits either mitochondrial (MT-CYB) or nuclear (CYC1, UQCRC2, UQCRB, and UQCRQ) encoded have been reported. Defects in five further factors for assembly (TTC19, UQCC2, and UQCC3) or iron-sulphur cluster loading (BCS1L and LYRM7) cause complex III deficiency. Here, we report a second patient with UQCC2 deficiency. This girl was born prematurely; pregnancy was complicated by intrauterine growth retardation and oligohydramnios...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28803844/the-atf6%C3%AE-arm-of-the-unfolded-protein-response-mediates-replicative-senescence-in-human-fibroblasts-through-a-cox2-prostaglandin-e2-intracrine-pathway
#15
Johanna Cormenier, Nathalie Martin, Julie Deslé, Clara Salazar-Cardozo, Albin Pourtier, Corinne Abbadie, Olivier Pluquet
Senescence is recognized as a cellular state acquired in response to various stresses. It occurs in correlation with the activation of the Unfolded Protein Response (UPR) pathway. However, the UPR targets which might relay the establishment of the senescent phenotype are not known. Herein, we investigated whether the up-regulation of the COX2 (PTGS2) limiting enzyme in the prostaglandin biosynthesis pathway, known to mediate cellular senescence in normal human fibroblasts, could be controlled by the UPR sensors ATF6α, IRE1α and PERK...
August 10, 2017: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/28803809/improved-androgen-specificity-of-ar-ecoscreen-by-crispr-based-glucocorticoid-receptor-knockout
#16
Nick Zwart, Dave Andringa, Willem-Jan de Leeuw, Hiroyuki Kojima, Mitsuru Iida, Corine Houtman, Jacob de Boer, Jeroen Kool, Marja Lamoree, Timo Hamers
The AR-EcoScreen is a widely used reporter assay for the detection of androgens and anti-androgens. Endogenous expression of glucocorticoid receptors and their affinity for the androgen responsive element that drives reporter expression, however, makes the reporter cells sensitive to interference by glucocorticoids and less specific for (anti-)androgens. To create a glucocorticoid insensitive derivative of the AR-EcoScreen, CRISPR/Cas9 genome editing was used to develop glucocorticoid receptor knockout mutants by targeting various sites in the glucocorticoid gene...
August 10, 2017: Toxicology in Vitro: An International Journal Published in Association with BIBRA
https://www.readbyqxmd.com/read/28801588/both-nuclear-size-and-dna-amount-contribute-to-midblastula-transition-timing-in-xenopus-laevis
#17
Predrag Jevtić, Daniel L Levy
During early Xenopus laevis embryogenesis both nuclear and cell volumes decrease with the nuclear-to-cytoplasmic (N/C) volume ratio reaching a maximum at the midblastula transition (MBT). At the MBT, embryonic transcription is upregulated and cell cycles lengthen. Early studies demonstrated a role for the DNA-to-cytoplasmic ratio in the control of MBT timing. By altering nuclear size, we previously showed that the N/C volume ratio also contributes to proper MBT timing. Here we examine the relative contributions of nuclear size and DNA amount to MBT timing by simultaneously altering nuclear size and ploidy in X...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28801384/causes-of-and-contributors-to-infant-mortality-in-a-rural-community-of-north-india-evidence-from-verbal-and-social-autopsy
#18
Sanjay Kumar Rai, Shashi Kant, Rahul Srivastava, Priti Gupta, Puneet Misra, Chandrakant Sambhaji Pandav, Arvind Kumar Singh
OBJECTIVE: To identify the medical causes of death and contribution of non-biological factors towards infant mortality by a retrospective analysis of routinely collected data using verbal and social autopsy tools. SETTING: The study site was Health and Demographic Surveillance System (HDSS), Ballabgarh, North India PARTICIPANTS: All infant deaths during the years 2008-2012 were included for verbal autopsy and infant deaths from July 2012 to December 2012 were included for social autopsy...
August 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28800967/role-of-prion-protein-in-premature-senescence-of-human-fibroblasts
#19
Emmanuelle Boilan, Virginie Winant, Elise Dumortier, Benaissa ElMoualij, Pascale Quatresooz, Heinz D Osiewacz, Florence Debacq-Chainiaux, Olivier Toussaint
Prion protein (PrP) is essentially known for its capacity to induce neurodegenerative prion diseases in mammals caused by a conformational change in its normal cellular isoform (PrP(C)) into an infectious and disease-associated misfolded form, called scrapie isoform (PrP(Sc)). Although its sequence is highly conserved, less information is available on its physiological role under normal conditions. However, increasing evidence supports a role for PrP(C) in the cellular response to oxidative stress. In the present study, a new link between PrP and senescence is highlighted...
August 8, 2017: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/28800727/a-phased-snp-based-classification-of-sickle-cell-anemia-hbb-haplotypes
#20
Elmutaz M Shaikho, John J Farrell, Abdulrahman Alsultan, Hatem Qutub, Amein K Al-Ali, Maria Stella Figueiredo, David H K Chui, Lindsay A Farrer, George J Murphy, Gustavo Mostoslavsky, Paola Sebastiani, Martin H Steinberg
BACKGROUND: Sickle cell anemia causes severe complications and premature death. Five common β-globin gene cluster haplotypes are each associated with characteristic fetal hemoglobin (HbF) levels. As HbF is the major modulator of disease severity, classifying patients according to haplotype is useful. The first method of haplotype classification used restriction fragment length polymorphisms (RFLPs) to detect single nucleotide polymorphisms (SNPs) in the β-globin gene cluster. This is labor intensive, and error prone...
August 11, 2017: BMC Genomics
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