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causes of prematurity

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https://www.readbyqxmd.com/read/28317860/gene-delivery-to-nile-tilapia-cells-for-transgenesis-and-the-role-of-pi3k-c2%C3%AE-in-angiogenesis
#1
Fernanda Maria Policarpo Tonelli, Samyra Maria Dos Santos Nassif Lacerda, Marcela Santos Procópio, Breno Luiz Sales Lemos, Luiz Renato de França, Rodrigo Ribeiro Resende
Microinjection is commonly performed to achieve fish transgenesis; however, due to difficulties associated with this technique, new strategies are being developed. Here we evaluate the potential of lentiviral particles to genetically modify Nile tilapia cells to achieve transgenesis using three different approaches: spermatogonial stem cell (SSC) genetic modification and transplantation (SC), in vivo transduction of gametes (GT), and fertilised egg transduction (ET). The SC protocol using larvae generates animals with sustained production of modified sperm (80% of animals with 77% maximum sperm fluorescence [MSF]), but is a time-consuming protocol (sexual maturity in Nile tilapia is achieved at 6 months of age)...
March 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28317845/dna-damage-during-s-phase-mediates-the-proliferation-quiescence-decision-in-the-subsequent-g1-via-p21-expression
#2
Alexis R Barr, Samuel Cooper, Frank S Heldt, Francesca Butera, Henriette Stoy, Jörg Mansfeld, Béla Novák, Chris Bakal
Following DNA damage caused by exogenous sources, such as ionizing radiation, the tumour suppressor p53 mediates cell cycle arrest via expression of the CDK inhibitor, p21. However, the role of p21 in maintaining genomic stability in the absence of exogenous DNA-damaging agents is unclear. Here, using live single-cell measurements of p21 protein in proliferating cultures, we show that naturally occurring DNA damage incurred over S-phase causes p53-dependent accumulation of p21 during mother G2- and daughter G1-phases...
March 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/28317311/novel-pathogenic-variants-in-foxp3-in-fetuses-with-echogenic-bowel-and-skin-desquamation-identified-by-ultrasound
#3
Raymond J Louie, Queenie K-G Tan, Jennifer B Gilner, R Curtis Rogers, Noelle Younge, Stephanie B Wechsler, Marie T McDonald, Barbara Gordon, Christopher A Saski, Julie R Jones, Shelley J Chapman, Roger E Stevenson, John W Sleasman, Michael J Friez
Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome is a rare, X-linked recessive disease that affects regulatory T cells (Tregs) resulting in diarrhea, enteropathy, eczema, and insulin-dependent diabetes mellitus. IPEX syndrome is caused by pathogenic alterations in FOXP3 located at Xp11.23. FOXP3 encodes a transcription factor that interacts with several partners, including NFAT and NF-κB, and is necessary for the proper cellular differentiation of Tregs. Although variable, the vast majority of IPEX syndrome patients have onset of disease during infancy with severe enteropathy...
March 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28316967/the-role-of-mucosal-immunity-in-the-pathogenesis-of-necrotizing-enterocolitis
#4
REVIEW
Zerina Hodzic, Alexa M Bolock, Misty Good
Necrotizing enterocolitis (NEC) is the most devastating gastrointestinal disease of prematurity. Although the precise cause is not well understood, the main risk factors thought to contribute to NEC include prematurity, formula feeding, and bacterial colonization. Recent evidence suggests that NEC develops as a consequence of intestinal hyper-responsiveness to microbial ligands upon bacterial colonization in the preterm infant, initiating a cascade of aberrant signaling events, and a robust pro-inflammatory mucosal immune response...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28304327/retinopathy-of-prematurity-in-indonesia-incidence-and-risk-factors
#5
J Edy Siswanto, P Jj Sauer
BACKGROUND: Retinopathy of prematurity (ROP) is a vaso-proliferative disease of the eye, which mainly affects preterm newborn infants with an incompletely vascularized retina. The incidence of ROP has increased in industrialized countries due to the increased survival of extremely low birth weight (ELBW) infants. ROP is also increasing in developing countries like Indonesia, where it is most likely due to the improved survival of ELBW infants. OBJECTIVE: To ascertain the incidence of ROP and possible risk factors associated with the development of ROP in preterm infants in Indonesia...
March 16, 2017: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/28303854/clinical-auditory-phenotypes-associated-with-gata3-gene-mutations-in-familial-hypoparathyroidism-deafness-renal-dysplasia-syndrome
#6
Li Wang, Qiong-Fen Lin, Hong-Yang Wang, Jing Guan, Lan Lan, Lin-Yi Xie, Lan Yu, Ju Yang, Cui Zhao, Jin-Long Liang, Han-Lin Zhou, Huan-Ming Yang, Wen-Ping Xiong, Qiu-Jing Zhang, Da-Yong Wang, Qiu-Ju Wang
BACKGROUND: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese family with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases. METHODS: Three affected family members underwent otologic examinations, biochemistry tests, and other clinical evaluations...
March 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28302208/-diagnostic-values-of-prealbumin-and-retinol-binding-protein-for-liver-damage-caused-by-different-degrees-of-neonatal-asphyxia
#7
Yun-Su Zou, Yan Guo, Rui Cheng, Xiao-Guang Zhou, Zhao-Lan Cao
OBJECTIVE: To investigate the diagnostic values of prealbumin (PAB) and retinol-binding protein (RBP) for liver damage caused by mild or severe asphyxia. METHODS: A retrospective analysis was performed on 185 neonates (including 84 premature infants and 101 full-term infants) with asphyxia. Based on the Apgar score, they were divided into two groups: mild asphyxia group (n=150) and severe asphyxia group (n=35). The levels of PAB, RBP, alanine aminotransferase (ALT), and aspartate aminotransferase (AST) were measured and compared...
March 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28301478/retrotransposon-activation-contributes-to-neurodegeneration-in-a-drosophila-tdp-43-model-of-als
#8
Lisa Krug, Nabanita Chatterjee, Rebeca Borges-Monroy, Stephen Hearn, Wen-Wei Liao, Kathleen Morrill, Lisa Prazak, Nikolay Rozhkov, Delphine Theodorou, Molly Hammell, Josh Dubnau
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are two incurable neurodegenerative disorders that exist on a symptomological spectrum and share both genetic underpinnings and pathophysiological hallmarks. Functional abnormality of TAR DNA-binding protein 43 (TDP-43), an aggregation-prone RNA and DNA binding protein, is observed in the vast majority of both familial and sporadic ALS cases and in ~40% of FTLD cases, but the cascade of events leading to cell death are not understood...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28301000/population-based-study-on-infant-mortality
#9
Jaqueline Costa Lima, Alexandre Marchezoni Mingarelli, Neuber José Segri, Arturo Alejandro Zavala Zavala, Olga Akiko Takano
Although Brazil has reduced social, economic and health indicators disparities in the last decade, intra- and inter-regional differences in child mortality rates (CMR) persist in regions such as the state capital of Mato Grosso. This population-based study aimed to investigate factors associated with child mortality in five cohorts of live births (LB) of mothers living in Cuiabá (MT), Brazil, 2006-2010, through probabilistic linkage in 47,018 LB. We used hierarchical logistic regression analysis. Of the 617 child deaths, 48% occurred in the early neonatal period...
March 2017: Ciência & Saúde Coletiva
https://www.readbyqxmd.com/read/28298219/sedentary-behaviours-during-pregnancy-a-systematic-review
#10
Caterina Fazzi, David H Saunders, Kathryn Linton, Jane E Norman, Rebecca M Reynolds
BACKGROUND: In the general population, at least 50% of time awake is spent in sedentary behaviours. Sedentary behaviours are activities that expend less energy than 1.5 metabolic equivalents, such as sitting. The amount of time spent in sedentary behaviours is a risk factor for diseases such as type 2 diabetes, cardiovascular disease, and death from all causes. Even individuals meeting physical activity guidelines are at a higher risk of premature death and adverse metabolic outcomes if they sit for extended intervals...
March 16, 2017: International Journal of Behavioral Nutrition and Physical Activity
https://www.readbyqxmd.com/read/28296989/premature-mortality-among-patients-recently-discharged-from-their-first-inpatient-psychiatric-treatment
#11
Florian Walter, Matthew J Carr, Pearl L H Mok, Aske Astrup, Sussie Antonsen, Carsten B Pedersen, Jenny Shaw, Roger T Webb
Importance: Nationwide cohorts provide sufficient statistical power for examining premature, cause-specific mortality in patients recently discharged from inpatient psychiatric services. Objective: To investigate premature mortality in a nationwide cohort of patients recently discharged from inpatient psychiatric treatment at ages 15 to 44 years. Design, Setting, and Participants: This single-cohort design included all persons born in Denmark (N = 1 683 385) between January 1, 1967, and December 31, 1996...
March 15, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28296564/azd1775-induces-toxicity-through-double-stranded-dna-breaks-independently-of-chemotherapeutic-agents-in-p53-mutated-colorectal-cancer-cells
#12
Peter John Webster, Anna Tiffany Littlejohns, Hannah Jane Gaunt, K Raj Prasad, David John Beech, Dermot Anthony Burke
AZD1775 is a small molecule WEE1 inhibitor used in combination with DNA-damaging agents to cause premature mitosis and cell death in p53-mutated cancer cells. Here we sought to determine the mechanism of action of AZD1775 in combination with chemotherapeutic agents in light of recent findings that AZD1775 can cause double-stranded DNA (DS-DNA) breaks. AZD1775 significantly improved the cytotoxicity of 5-FU in a p53-mutated colorectal cancer cell line (HT29 cells), decreasing the IC50 from 9.3 μM to 3.5 μM...
March 15, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28296374/-protocol-for-the-care-of-acute-myocardial-infarction-in-emergency-c%C3%A3-digo-infarto-the-infarction-code
#13
Gabriela Borrayo-Sánchez, Gilberto Pérez-Rodríguez, Olga Georgina Martínez-Montañez, Eduardo Almeida-Gutiérrez, Erick Ramírez-Arias, Joel Estrada-Gallegos, Norma Magdalena Palacios-Jiménez, Martín Rosas-Peralta, Efraín Arizmendi-Uribe, Jesús Arriaga-Dávila
Cardiovascular diseases are a major public health problem because of their they impact on more than 30% of all deaths worldwide. In our country and in the Instituto Mexicano del Seguro Social (IMSS) are also the leading cause of death and the main cause of lost of healthy life years due to disability or premature death. 50% of deaths are premature; most of them are due to acute myocardial infarct. However, the investment for cardiovascular health is poor and there are no comprehensive cares programs focused on the treatment of this diseases or the control of their risk factors...
March 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28295212/constitutional-lztr1-mutation-presenting-with-a-unilateral-vestibular-schwannoma-in-a-teenager
#14
Karen W Gripp, Laura Baker, Vinay Kandula, Joseph Piatt, Andrew Walter, Zhenbin Chen, Ludwine Messiaen
Schwannomatosis is a rare neurofibromatosis clinically diagnosed by age-dependent criteria, with bilateral vestibular schwannoma and/or a constitutional NF2 mutation representing exclusion criteria. Following SMARCB1 germline mutations, constitutional mutations in LZTR1 were discovered. We report on the molecular investigation in a patient presenting at 14 years with a unilateral vestibular schwannoma, ultimately causing blindness and unilateral hearing loss, in the absence of other schwannomas or a positive family history...
March 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28295041/exome-sequencing-identifies-primary-carnitine-deficiency-in-a-family-with-cardiomyopathy-and-sudden-death
#15
Najim Lahrouchi, Elisabeth M Lodder, Maria Mansouri, Rafik Tadros, Layla Zniber, Najlae Adadi, Sally-Ann B Clur, Karin Y van Spaendonck-Zwarts, Alex V Postma, Abdelaziz Sefiani, Ilham Ratbi, Connie R Bezzina
Pediatric cardiomyopathy is a rare but severe disease with high morbidity and mortality. The causes are poorly understood and can only be established in one-third of cases. Recent advances in genetic technologies, specifically next-generation sequencing, now allow for the detection of genetic causes of cardiomyopathy in a systematic and unbiased manner. This is particularly important given the large clinical variability among pediatric cardiomyopathy patients and the large number of genes (>100) implicated in the disorder...
March 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28294570/how-does-obesity-affect-the-endocrine-system-a-narrative-review
#16
REVIEW
M Poddar, Y Chetty, V T Chetty
Obesity is a chronic, relapsing medical condition that results from an imbalance of energy expenditure and consumption. It is a leading cause of preventable illness, disability and premature death. The causes of obesity are multifactorial and include behavioural, socioeconomic, genetic, environmental and psychosocial factors. Rarely are endocrine diseases, e.g., hypothyroidism or Cushing's syndrome, the cause of obesity. What is less understood is how obesity affects the endocrine system. In this review, we will discuss the impact of obesity on multiple endocrine systems, including the hypothalamic-pituitary axis, changes in vitamin D homeostasis, gender steroids and thyroid hormones...
March 15, 2017: Clinical Obesity
https://www.readbyqxmd.com/read/28294359/premature-trigger-of-eri-in-medtronic-enrhythm-devices
#17
Melissa E Middeldorp, Rajiv Mahajan, Adrian D Elliott, Rajeev K Pathak, Darragh Twomey, Lauren Wilson, Simon Stolcman, Dian A Munawar, Sharath Kumar, Dennis H Lau, Prashanthan Sanders
INTRODUCTION: Medical technology has made significant advances over the last few decades with smaller and more dynamic pacemakers. However, technical failures leading to premature replacement is a cause of concern. We present a series of Medtronic EnRhythm devices that reached premature elective replacement indicator (ERI). METHODS: The database of Centre of Heart Rhythm Disorders was searched for EnRhythm device implantation from 2006 to 2011. Battery depletion <8...
March 11, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28294175/the-age-associated-loss-of-ischemic-preconditioning-in-the-kidney-is-accompanied-by-mitochondrial-dysfunction-increased-protein-acetylation-and-decreased-autophagy
#18
Stanislovas S Jankauskas, Irina B Pevzner, Nadezda V Andrianova, Ljubava D Zorova, Vasily A Popkov, Denis N Silachev, Nataliya G Kolosova, Egor Y Plotnikov, Dmitry B Zorov
In young rats, ischemic preconditioning (IPC), which consists of 4 cycles of ischemia and reperfusion alleviated kidney injury caused by 40-min ischemia. However,old rats lost their ability to protect the ischemic kidney by IPC. A similar aged phenotype was demonstrated in 6-month-old OXYS rats having signs of premature aging. In the kidney of old and OXYS rats, the levels of acetylated nuclear proteins were higher than in young rats, however, unlike in young rats, acetylation levels in old and OXYS rats were further increased after IPC...
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28293304/the-burden-of-diabetes-and-hyperglycemia-in-brazil-past-and-present-findings-from-the-global-burden-of-disease-study-2015
#19
Bruce Bartholow Duncan, Maria Inês Schmidt, Ewerton Cousin, Maziar Moradi-Lakeh, Valéria Maria de Azeredo Passos, Elisabeth Barboza França, Fátima Marinho, Ali H Mokdad
BACKGROUND: Diabetes, hyperglycemia, and their complications are a growing problem in Brazil. However, no comprehensive picture of this disease burden has yet been presented to date. METHODS: We used Global Burden of Disease 2015 data to characterize diabetes prevalence, incidence and risk factors from 1990 to 2015 in Brazil. Additionally, we provide mortality, years of life lost prematurely (YLL), years of life lived with disability (YLD) and disability-adjusted life years (DALYs) lost due to diabetes, as well as similar data for chronic kidney disease (CKD) due to diabetes and, as an overall summary measure, for hyperglycemia, the latter expressed as high fasting plasma glucose (HFPG)...
2017: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/28292896/loss-of-lmod1-impairs-smooth-muscle-cytocontractility-and-causes-megacystis-microcolon-intestinal-hypoperistalsis-syndrome-in-humans-and-mice
#20
Danny Halim, Michael P Wilson, Daniel Oliver, Erwin Brosens, Joke B G M Verheij, Yu Han, Vivek Nanda, Qing Lyu, Michael Doukas, Hans Stoop, Rutger W W Brouwer, Wilfred F J van IJcken, Orazio J Slivano, Alan J Burns, Christine K Christie, Karen L de Mesy Bentley, Alice S Brooks, Dick Tibboel, Suowen Xu, Zheng Gen Jin, Tono Djuwantono, Wei Yan, Maria M Alves, Robert M W Hofstra, Joseph M Miano
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary bladder and defective intestinal motility. The genetic basis of MMIHS has been ascribed to spontaneous and autosomal dominant mutations in actin gamma 2 (ACTG2), a smooth muscle contractile gene. However, evidence suggesting a recessive origin of the disease also exists. Using combined homozygosity mapping and whole exome sequencing, a genetically isolated family was found to carry a premature termination codon in Leiomodin1 (LMOD1), a gene preferentially expressed in vascular and visceral smooth muscle cells...
March 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
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