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correction for prematurity

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https://www.readbyqxmd.com/read/28538237/update-on-postnatal-steroids
#1
Henry L Halliday
Antenatal steroid treatment to enhance fetal lung maturity and surfactant treatment to prevent or treat respiratory distress syndrome have been major advances in perinatal medicine in the past 40 years contributing to improved outcomes for preterm infants. Use of postnatal steroids to prevent or treat chronic lung disease in preterm infants has been less successful and associated with adverse neurodevelopmental outcomes. Although early (in the first week of life) postnatal steroid treatment facilitates earlier extubation and reduces the risk of chronic lung disease, it is associated with adverse effects, such as hyperglycemia, hypertension, gastrointestinal bleeding and perforation, hypertrophic cardiomyopathy, growth failure, and cerebral palsy, and cannot be recommended...
2017: Neonatology
https://www.readbyqxmd.com/read/28536205/severe-retinopathy-of-prematurity-predicts-delayed-white-matter-maturation-and-poorer-neurodevelopment
#2
Torin J A Glass, Vann Chau, Jane Gardiner, Justin Foong, Jillian Vinall, Jill G Zwicker, Ruth E Grunau, Anne Synnes, Kenneth J Poskitt, Steven P Miller
OBJECTIVE: To determine whether severe retinopathy of prematurity (ROP) is associated with (1) abnormal white matter maturation and (2) neurodevelopmental outcomes at 18 months' corrected age (CA) compared with neonates without severe ROP. DESIGN: We conducted a prospective longitudinal cohort of extremely preterm neonates born 24-28 weeks' gestational age recruited between 2006 and 2013 with brain MRIs obtained both early in life and at term-equivalent age. Severe ROP was defined as ROP treated with retinal laser photocoagulation...
May 23, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/28528221/bronchopulmonary-dysplasia-and-perinatal-characteristics-predict-1-year-respiratory-outcomes-in-newborns-born-at-extremely-low-gestational-age-a-prospective-cohort-study
#3
Roberta L Keller, Rui Feng, Sara B DeMauro, Thomas Ferkol, William Hardie, Elizabeth E Rogers, Timothy P Stevens, Judith A Voynow, Scarlett L Bellamy, Pamela A Shaw, Paul E Moore
OBJECTIVE: To assess the utility of clinical predictors of persistent respiratory morbidity in extremely low gestational age newborns (ELGANs). STUDY DESIGN: We enrolled ELGANs (<29 weeks' gestation) at ≤7 postnatal days and collected antenatal and neonatal clinical data through 36 weeks' postmenstrual age. We surveyed caregivers at 3, 6, 9, and 12 months' corrected age to identify postdischarge respiratory morbidity, defined as hospitalization, home support (oxygen, tracheostomy, ventilation), medications, or symptoms (cough/wheeze)...
May 17, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28523359/arginine-cga-codons-as-a-source-of-nonsense-mutations-a-possible-role-in-multivariant-gene-expression-control-of-mrna-quality-and-aging
#4
Georgy A Romanov, Victor S Sukhoverov
Methylation of cytosine residues in DNA of higher eukaryotes, including humans, creates "hot spots" of C→T transitions in the genome. The predominantly methylated sequence in mammalian DNAs is CG (CpG). Among CG-containing codons, CGA codons for arginine are unique due to their ability to create stop codons TGA (UGA in mRNA) upon epigenetic-mediated mutation. As such nonsense mutations can have a strong adverse effect on the cell and organism, we have performed a study, on the example of human genes, aimed to characterise the anticipated effects of epigenetic-mediated nonsense mutations CGA→TGA in somatic cells...
May 18, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28514928/challenges-in-evaluation-of-screening-for-gastric-cancer-among-men-based-on-nonrandomized-design
#5
Ilkka Vohlonen, Matti Härkönen, Nea Malila, Eero Pukkala, Pentti Sipponen, Veli Koistinen, Matti Hakama
BACKGROUND: Objective was to quantify biases in screening for gastric cancer when comparing attenders to nonattenders using serum pepsinogen I (SPGI) level as primary test. METHODS: In mid 1990s, all men aged 51-65 years from two Finnish cities were invited to SPGI screening. Mortality and premature mortality in attenders were compared to nonattenders. Efficacy of screening was studied by 15 years' follow-up of standardized mortality ratio (SMR) and potential years of life lost (PYLL) due to gastric cancer...
July 2017: Acta Oncologica
https://www.readbyqxmd.com/read/28506665/motor-development-of-preterm-infants-assessed-by-the-alberta-infant-motor-scale-systematic-review-article
#6
REVIEW
Rubia do N Fuentefria, Rita de Cássia Silveira, Renato S Procianoy
OBJECTIVE: Premature newborns are considered at risk for motor development deficits, leading to the need for monitoring in early life. The aim of this study was to systematically review the literature about gross motor development of preterm infants, assessed by the Alberta Infant Motor Scale (AIMS) to identify the main outcomes in development. DATA SOURCE: Systematic review of studies published from 2006 to 2015, indexed in Pubmed, Scielo, Lilacs, and Medline databases in English and Portuguese...
May 12, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28502505/lysosomal-acid-lipase-deficiency-a-hidden-disease-among-cohorts-of-familial-hypercholesterolemia
#7
Joana Rita Chora, Ana Catarina Alves, Ana Margarida Medeiros, Cibelle Mariano, Goreti Lobarinhas, António Guerra, Helena Mansilha, Helena Cortez-Pinto, Mafalda Bourbon
BACKGROUND: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause of LALD. OBJECTIVE: The aim of this study was to investigate LALD in individuals with severe dyslipidemia and/or liver steatosis. METHODS: Coding, splice regions, and promoter region of LIPA were sequenced by Sanger sequencing in a cohort of mutation-negative familial hypercholesterolemia (FH) patients (n = 492) and in a population sample comprising individuals with several types of dyslipidemia and/or liver steatosis (n = 258)...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28499369/characterization-of-a-splice-site-mutation-in-the-tumor-suppressor-gene-flcn-associated-with-renal-cancer
#8
Malte P Bartram, Tripti Mishra, Nadine Reintjes, Francesca Fabretti, Hakam Gharbi, Alexander C Adam, Heike Göbel, Mareike Franke, Bernhard Schermer, Stefan Haneder, Thomas Benzing, Bodo B Beck, Roman-Ulrich Müller
BACKGROUND: Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL and FLCN. Mutations in the FLCN gene are the cause of Birt-Hogg-Dubé syndrome, a rare tumor syndrome which is characterized by the combination of renal cell carcinoma, pneumothorax and skin tumors. METHODS: Using Sanger sequencing we identify a heterozygous splice-site mutation in FLCN in lymphocyte DNA of a patient suffering from renal cell carcinoma...
May 12, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28492522/impact-of-brain-injury-on-functional-measures-of-amplitude-integrated-eeg-at-term-equivalent-age-in-premature-infants
#9
N M El Ters, Z A Vesoulis, S M Liao, C D Smyser, A M Mathur
OBJECTIVE: To evaluate the association between qualitative and quantitative amplitude-integrated EEG (aEEG) measures at term equivalent age (TEA) and brain injury on magnetic resonance imaging (MRI) in preterm infants. STUDY DESIGN: A cohort of premature infants born at <30 weeks of gestation and with moderate-to-severe MRI injury on a TEA MRI scan was identified. A contemporaneous group of gestational age-matched control infants also born at <30 weeks of gestation with none/mild injury on MRI was also recruited...
May 11, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28485664/controlled-ovarian-stimulation-and-ivf-pregnancy-in-a-trisomy-x-carrier-with-associated-hypogonadotropic-hypogonadism
#10
Claudia Massarotti, Patrizia Fiorio, Roberto Gastaldi, Lucia Rosaia De Santis, Daniela Pastorino, Valentino Remorgida, Paola Anserini
We describe successful controlled ovarian stimulation (COS) and the first known IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism (HH) linked to a chromosome 4 double mutation in the allele of the Gonadotropins Releasing Hormone receptor (GnRHr) gene. Previous administration of low dose of gonadotropins, as recommended in patients with HH, led to poor follicular recruitment. Since trisomy X is a risk factor for diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI), higher doses of gonadotropins led to better ovarian response...
May 9, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28480843/prognostic-risk-of-obstetric-and-perinatal-complications-in-pregnant-women-with-thyroid-dysfunction
#11
N Morchiladze, B Tkeshelashvili, T Gagua, D Gagua
Maternal thyroid pathology takes important role in obstetric and peri-neonatal morbidity structure. Despite of the number of studies conducted in the field of thyroid disorders of pregnant females, the definition of influence of thyroid gland dysfunction on maternal and neonatal health still remains actual. The mentioned topics draw specific interest in the aspect of prognosticaiton of complications and unfavorable outcome. Aim of the study - to define the specificities of gestation period and determine the prognostic risk of obstetric and perinatal complications in pregnant females with thyroid pathology...
March 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28479031/the-effect-of-early-fusion-of-the-spheno-occipital-synchondrosis-on-midface-hypoplasia-and-obstructive-sleep-apnea-in-patients-with-crouzon-syndrome
#12
Caroline Driessen, Bianca F Rijken, Priya N Doerga, Marjolein H Dremmen, Koen F Joosten, Irene M Mathijssen
INTRODUCTION: The investigators hypothesized that patients with Crouzon syndrome and premature fusion of the spheno-occipital synchondrosis (SOS) more often have, or have more severe midface hypoplasia and obstructive sleep apnea (OSA). METHODS: A prospective cohort study was performed among patients with Crouzon syndrome to analyze SOS closure, midface hypoplasia represented by the sella-nasion angle (SNA) and OSA. RESULTS: Forty patients were included in whom the OSA-prevalence was 65%...
April 8, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28477268/expression-of-progerin-does-not-result-in-an-increased-mutation-rate
#13
Emmanuelle Deniaud, Charlene Lemaître, Shelagh Boyle, Wendy A Bickmore
In the premature ageing disease Hutchinson-Gilford progeria syndrome (HGPS), the underlying genetic defect in the lamin A gene leads to accumulation at the nuclear lamina of progerin-a mutant form of lamin A that cannot be correctly processed. This has been reported to result in defects in the DNA damage response and in DNA repair, leading to the hypothesis that, as in normal ageing and in other progeroid syndromes caused by mutation of genes of the DNA repair and DNA damage response pathways, increased DNA damage may be responsible for the premature ageing phenotypes in HGPS patients...
May 6, 2017: Chromosome Research
https://www.readbyqxmd.com/read/28461831/refractive-and-visual-outcome-after-laser-treated-retinopathy-of-prematurity-in-western-romania
#14
Stoica Florina, Ladariu Corina, Koos Marie-Jeanne, Stanciu Alina, Olariu Gabriela, Andreescu Nicoleta, Puiu Maria
OBJECTIVES: The aim of this study is to assess the functional outcomes registered in patients from the Western part of Romania, who have been treated for retinopathy of prematurity, using a laser diode (810mn). MATERIALS AND METHODS: In the current study 52 premature infants with gestational age<34 weeks and a birth weight <2000 grams, 96 eyes in total were included. The functional outcomes were assessed by determining the best corrected visual acuity and refractive error...
June 2016: Mædica
https://www.readbyqxmd.com/read/28455327/novel-method-for-the-reliable-identification-of-siccibacter-and-franconibacter-strains-from-pseudo-cronobacter-to-new-enterobacteriaceae-genera
#15
Barbora Svobodová, Jiří Vlach, Petra Junková, Ludmila Karamonová, Martina Blažková, Ladislav Fukal
In the last decade, strains of the genera Franconibacter and Siccibacter have been misclassified as first Enterobacter and later Cronobacter Because Cronobacter is a serious food-borne pathogen that affects premature neonates and elderly individuals, such misidentification may not only falsify epidemiological statistics, but also lead to tests of powdered infant formula or other foods giving false results. Currently, the main ways of identifying Franconibacter and Siccibacter strains are by biochemical testing or by sequencing of the fusA gene as part of Cronobacter MLST, but in relation to these strains the former is generally highly difficult and unreliable while the latter remains expensive...
April 28, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28453508/viable-options-for-fertility-preservation-in-breast-cancer-patients-a-focus-on-latin-america
#16
Matteo Lambertini, Oranite Goldrat, Regina Barragan-Carrillo, Giulia Viglietti, Isabelle Demeestere, Cynthia Villarreal-Garza
Thanks to the improved survival outcomes observed in recent years, a growing attention has been given to the quality of life issues faced by young women with breast cancer such as fertility preservation and concerns related to future pregnancies. However, several challenges remain for young women with breast cancer considering undergoing fertility preservation strategies. Further specific issues on this regard should be taken into account in Latin America, where patients and physicians face particular barriers that hinder the routine adoption of this practice...
March 2017: Revista de Investigación Clínica; Organo del Hospital de Enfermedades de la Nutrición
https://www.readbyqxmd.com/read/28441836/-clinical-value-of-prenatal-mri-in-the-diagnosis-of-fetal-simple-expansion-of-lateral-ventricle-and-follow-up-after-birth
#17
Z Li, P Y He, Z Q Luo, L M Pan, Y N Chen, G S Shen, Z H Fei, M Y Li, X M Fang, L H Qi, M S Liu
Objective: To explore the value of prenatal MRI in the diagnosis of fetal simple expansion of lateral ventricle (ventriculomegaly) , and follow up the nervous system development status after birth. Methods: Simple expansion of the lateral ventricle fetus by prenatal MRI examination were collected in Huzhou Maternal and Child Care Hospital from May 2013 to June 2015, 126 cases of live births in expansion group, 50 normal cases were recruited in the same period as the control group. In expansion group, fetal subgroup analysis was done: (1) unilateral or bilateral lateral ventricle expasion: one group was 98 cases was lateral ventricle expansion (77...
April 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28433214/maturational-patterns-of-systolic-ventricular-deformation-mechanics-by-two-dimensional-speckle-tracking-echocardiography-in-preterm-infants-over-the-first-year-of-age
#18
Philip T Levy, Afif El-Khuffash, Meghna D Patel, Colm R Breatnach, Adam T James, Aura A Sanchez, Cristina Abuchabe, Sarah R Rogal, Mark R Holland, Patrick J McNamara, Amish Jain, Orla Franklin, Luc Mertens, Aaron Hamvas, Gautam K Singh
BACKGROUND: The aim of this study was to determine the maturational changes in systolic ventricular strain mechanics by two-dimensional speckle-tracking echocardiography in extremely preterm neonates from birth to 1 year of age and discern the impact of common cardiopulmonary abnormalities on the deformation measures. METHODS: In a prospective multicenter study of 239 extremely preterm infants (<29 weeks gestation at birth), left ventricular (LV) global longitudinal strain (GLS) and global longitudinal systolic strain rate (GLSRs), interventricular septal wall (IVS) GLS and GLSRs, right ventricular (RV) free wall longitudinal strain and strain rate, and segmental longitudinal strain in the RV free wall, LV free wall, and IVS were serially measured on days 1, 2, and 5 to 7, at 32 and 36 weeks postmenstrual age, and at 1 year corrected age (CA)...
April 19, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/28431546/health-care-public-reporting-utilization-user-clusters-web-trails-and-usage-barriers-on-germany-s-public-reporting-portal-weisse-liste-de
#19
Christoph Pross, Lars-Henrik Averdunk, Josip Stjepanovic, Reinhard Busse, Alexander Geissler
BACKGROUND: Quality of care public reporting provides structural, process and outcome information to facilitate hospital choice and strengthen quality competition. Yet, evidence indicates that patients rarely use this information in their decision-making, due to limited awareness of the data and complex and conflicting information. While there is enthusiasm among policy makers for public reporting, clinicians and researchers doubt its overall impact. Almost no study has analyzed how users behave on public reporting portals, which information they seek out and when they abort their search...
April 21, 2017: BMC Medical Informatics and Decision Making
https://www.readbyqxmd.com/read/28428252/low-frequency-blood-pressure-oscillations-and-inotrope-treatment-failure-in-premature-infants
#20
Zachary Andrew Vesoulis, Jessica Hao, Christopher McPherson, Nathalie El Ters, Amit M Mathur
BACKGROUND: The underlying mechanism as to why some hypotensive preterm infants do not respond to inotropic medications remains unclear. For these infants, we hypothesize that impaired vasomotor function is a significant factor and is manifested through a decrease in low-frequency blood pressure variability across regulatory components of vascular tone. METHODS: Infants born 28 weeks estimated gestational age underwent prospective recording of mean arterial blood pressure (MABP) for 72h after birth...
April 20, 2017: Journal of Applied Physiology
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