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correction for prematurity

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https://www.readbyqxmd.com/read/28624314/anatomical-and-refractive-outcomes-in-patients-with-treated-retinopathy-of-prematurity
#1
M Lolas, A Tuma, M Zanolli, R Agurto, R Stevenson, D Ossandón
OBJECTIVE: To describe the anatomical and refractive outcomes after treatment with intravitreal bevacizumab or laser in a patient cohort with retinopathy of prematurity (ROP). METHODS: A multicentre, prospective, and observational study was performed on patients with ROP treated at Hospital Roberto del Río. Those patients with less than 6months of follow-up were excluded. Cases with posterior zone II, zone I ROP, and aggressive posterior ROP (AP-ROP) were treated with intravitreal bevacizumab...
June 14, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28622703/qualitative-determination-of-human-chorionic-gonadotropin-in-vaginal-washings-for-the-early-diagnosis-of-premature-rupture-of-fetal-membranes
#2
Camila Buziquia Dartibale, Nelson Shozo Uchimura, Luiz Nery, Angelita Polato Schumeish, Liza Yurie Teruya Uchimura, Rosangela Getirana Santana, Taqueco Teruya Uchimura
Purpose This study aimed to evaluate and validate the qualitative human chorionic gonadotropin β subunit (β-hCG) test of the vaginal fluid washings of pregnant women with premature rupture of fetal membranes (PROM). Methods Cross-sectional study of pregnant women between gestational weeks 24 and 39 who underwent consultations in one of our institutions. They were divided into two groups: group A (pregnant women clinically diagnosed with PROM) and group B (pregnant women without loss of amniotic liquid)...
June 16, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28620017/correction-for-guo-et-al-poly-a-signals-located-near-the-5-end-of-genes-are-silenced-by-a-general-mechanism-that-prevents-premature-3-end-processing
#3
Jiannan Guo, Matthew Garrett, Gos Micklem, Saverio Brogna
No abstract text is available yet for this article.
July 1, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28619766/diagnostic-performance-of-an-automatic-blood-pressure-measurement-device-microlife-watchbp-home-a-for-atrial-fibrillation-screening-in-a-real-world-primary-care-setting
#4
Pak-Hei Chan, Chun-Ka Wong, Louise Pun, Yu-Fai Wong, Michelle Man-Ying Wong, Daniel Wai-Sing Chu, Chung-Wah Siu
OBJECTIVE: To evaluate the diagnostic performance of a UK National Institute for Health and Care Excellence-recommended automatic oscillometric blood pressure (BP) measurement device incorporated with an atrial fibrillation (AF) detection algorithm (Microlife WatchBP Home A) for real-world AF screening in a primary healthcare setting. SETTING: Primary healthcare setting in Hong Kong. INTERVENTIONS: This was a prospective AF screening study carried out between 1 September 2014 and 14 January 2015...
June 15, 2017: BMJ Open
https://www.readbyqxmd.com/read/28619647/using-crispr-cas9-to-generate-gene-corrected-autologous-ipscs-for-the-treatment-of-inherited-retinal-degeneration
#5
Erin R Burnight, Manav Gupta, Luke A Wiley, Kristin R Anfinson, Audrey Tran, Robinson Triboulet, Jeremy M Hoffmann, Darcey L Klaahsen, Jeaneen L Andorf, Chunhua Jiao, Elliott H Sohn, Malavika K Adur, Jason W Ross, Robert F Mullins, George Q Daley, Thorsten M Schlaeger, Edwin M Stone, Budd A Tucker
Patient-derived induced pluripotent stem cells (iPSCs) hold great promise for autologous cell replacement. However, for many inherited diseases, treatment will likely require genetic repair pre-transplantation. Genome editing technologies are useful for this application. The purpose of this study was to develop CRISPR-Cas9-mediated genome editing strategies to target and correct the three most common types of disease-causing variants in patient-derived iPSCs: (1) exonic, (2) deep intronic, and (3) dominant gain of function...
June 12, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28610891/n-butyldeoxynojirimycin-delays-motor-deficits-cerebellar-microgliosis-and-purkinje-cell-loss-in-a-mouse-model-of-mucolipidosis-type-iv
#6
Lauren C Boudewyn, Jakub Sikora, Ladislav Kuchar, Jana Ledvinova, Yulia Grishchuk, Shirley L Wang, Kostantin Dobrenis, Steven U Walkley
Mucolipidosis type IV (MLIV) is a lysosomal storage disease exhibiting progressive intellectual disability, motor impairment, and premature death. There is currently no cure or corrective treatment. The disease results from mutations in the gene encoding mucolipin-1, a transient receptor potential channel believed to play a key role in lysosomal calcium egress. Loss of mucolipin-1 and subsequent defects lead to a host of cellular aberrations, including accumulation of glycosphingolipids (GSLs) in neurons and other cell types, microgliosis and, as reported here, cerebellar Purkinje cell loss...
June 10, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28605034/population-based-values-and-abnormalities-of-the-electrocardiogram-in-the-general-dutch-population-the-lifelines-cohort-study
#7
M Yldau van der Ende, Joylene E Siland, Harold Snieder, Pim van der Harst, Michiel Rienstra
BACKGROUND: Our aim is to present average values and prevalence of electrocardiographic (ECG) abnormalities among the general Dutch population in the LifeLines Cohort. HYPOTHESIS: The ECG values previously studied in the Caucasian population of smaller cohorts will be confirmed with ECG data from LifeLines. METHODS: ECG data of 152 180 individuals age 18 to 93 years were available. Individuals with cardiovascular risk factors were excluded to analyze the healthy population...
June 12, 2017: Clinical Cardiology
https://www.readbyqxmd.com/read/28599087/growth-charts-for-australian-children-with-achondroplasia
#8
Louise Tofts, Sandeep Das, Felicity Collins, Karen L O Burton
Achondroplasia is an autosomal dominant disorder, the most common genetic cause of short stature in humans. Reference curves for head circumference, weight, height, and BMI are needed in clinical practice but none exist for the Australian population. This study aimed to produce head circumference, height, weight, and BMI reference percentile curves for Australian children and adolescents with achondroplasia. Measurements of head circumference, height and weight taken at clinical visits were retrospectively extracted from the electronic medical record...
June 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28593893/trigonocephaly-our-experience-and-treatment-in-the-republic-of-macedonia
#9
Vladimir Mircevsk, Elizabeta Zogovska, Aleksandar Chaparoski, Mile Micunovic, Venko Filipce, Mirko Mishel Mirchevski, Milenko Kostov, Ljubica Мicunovic
INTRODUCTION: Prematurely fused metopic suture results in developmental anomaly named trigonocephaly. The treatment of trigonocephaly is a surgical reconstruction, starting from the simple suturectomy toward the complicated cranial vault reconstructions with aim to obtain enough endocranial space for normal development of the brain and aesthetic correction as well. THE AIM: The aim of our paper is to present our experience on this pathology in the Republic of Macedonia, stressing the trigonocephaly as one of the rare forms of craniosynostosis...
March 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/28589868/-two-year-follow-up-of-infants-born-at-24-weeks-gestation-first-outcomes-following-implementation-of-the-new-guideline-for-perinatal-policy-in-cases-of-extreme-prematurity
#10
C S H Aarnoudse-Moens, M Rijken, R M Swarte, P Andriessen, H J Ter Horst, S M Mulder-de Tollenaer, C Koopman-Esseboom, A R C Laarman, K Steiner, A H B M van der Hoeven, R F Kornelisse, J J Duvekot, N Weisglas-Kuperus
OBJECTIVE: Since 2010 the guideline 'Guideline for perinatal policy in cases of extreme prematurity' has advised an active policy in infants born at 24 weeks gestation. We investigated how infants born at 24 and 25 weeks gestation in the first year following the implementation of the guideline had developed by the age of 2 years. DESIGN: Retrospective national cohort study. METHOD: The study population consisted of all surviving infants born in the Netherlands at 24 or 25 weeks gestation in the period from 1 October 2010 to 1 October 2011...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28587528/a-prospective-observational-cohort-study-of-exposure-to-womb-like-sounds-to-stabilize-breathing-and-cardiovascular-patterns-in-preterm-neonates
#11
Joanna J Parga, Ravi R Bhatt, Kalpashri Kesavan, Myung-Shin Sim, Harvey N Karp, Ronald M Harper, Lonnie Zeltzer
PURPOSE: We exposed premature infants to womb-like sounds to evaluate such exposure on breathing and cardiovascular patterns. We hypothesized that these sounds would reduce apnea and intermittent hypoxemia, enhance parasympathetic outflow, and improve cardiovascular patterns. METHODS: A total of 20 cases and 5 control infants at ≤ 32-36 weeks corrected gestational age participated in a prospective observational cohort study. Twenty-four hours of continuous ECG, respiratory and oxygen saturation data were collected in all infants...
June 7, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28580602/randomised-study-showed-that-recorded-maternal-voices-reduced-pain-in-preterm-infants-undergoing-heel-lance-procedures-in-a-neonatal-intensive-care-unit
#12
G Chirico, R Cabano, G Villa, A Bigogno, M Ardesi, E Dioni
AIM: Alleviating pain in neonates should be the goal of all caregivers. We evaluated whether recorded maternal voices were safe and effective in limiting pain in preterm infants undergoing heel lance procedures in the neonatal intensive care unit of an Italian children's hospital. METHODS: This prospective, controlled study took place from December 2013 to December 2015. We enrolled 40 preterm infants, born at a 26-34 weeks of gestation, at a corrected gestational age 29-36 weeks and randomised them to listen or not listen to a recording of their mother's voice during a painful, routine heel lance for blood collection...
June 5, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28576280/-familial-hypercholesterolemia-a-largely-underestimated-cardiovascular-risk
#13
J Ferrières, É Bruckert, S Béliard, J-P Rabès, M Farnier, M Krempf, B Cariou, N Danchin
BACKGROUND: Familial hypercholesterolemia is a monogenic autosomal dominant dyslipidemia characterized by a permanent and isolated increase of cholesterol carried by low-density lipoproteins. The prevalence of its heterozygous form is estimated between 1/500 and 1/250, and in the absence of specific treatment, this form is responsible for an increase by a factor of 13 of the risk of premature coronary artery disease compared to patients non-affected by the disease. OBJECTIVES: To perform an inventory of the knowledge of heterozygous familial hypercholesterolemia in France for physicians involved in the management of the disease...
May 30, 2017: Annales de Cardiologie et D'angéiologie
https://www.readbyqxmd.com/read/28574139/visual-outcomes-following-descemet-stripping-automated-endothelial-keratoplasty-for-corneal-endothelial-dysfunction
#14
Oualid Guechi, Louis Lhuillier, Naila Houmad, Christophe Goetz, Nadia Ouamara, Jean Marc Perone
OBJECTIVE: To assess objective and subjective visual outcomes achieved by patients with corneal endothelial dysfunction who have undergone surgical treatment with Descemet stripping automated endothelial keratoplasty (DSAEK). METHODS: A total of 40 eyes of 36 patients with corneal endothelial dysfunction underwent DSAEK. All were followed up for 1 year. Visual acuity (VA; logMAR), mean endothelial cell density (MCD; via noncontact specular microscopy), and topography assessment were performed at baseline (preoperatively)...
April 10, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28570723/oral-tyrosine-kinase-inhibitor-for-neovascular-age-related-macular-degeneration-a-phase-1-dose-escalation-study
#15
Timothy L Jackson, David Boyer, David M Brown, Nauman Chaudhry, Michael Elman, Chris Liang, Denis O'Shaughnessy, Edward C Parsons, Sunil Patel, Jason S Slakter, Philip J Rosenfeld
Importance: An oral treatment for neovascular age-related macular degeneration would be less burdensome than repeated intravitreous injections. X-82 is an oral tyrosine kinase inhibitor active against vascular endothelial growth factor (VEGF) and platelet-derived growth factor. Objective: To undertake safety testing of oral X-82 administered for the treatment of neovascular AMD. Design, Setting, and Participants: Phase 1, open-label, uncontrolled, dose-escalation study at 5 US retinal clinics between November 2012 and March 2015 (Retina-Vitreous Associates Medical Group, Beverly Hills, California; Blanton Eye Institute, Houston Methodist Hospital, Retina Consultants of Houston, Houston, Texas; New England Retina Associates, Guilford, Connecticut; Elman Retina Group, Baltimore, Maryland; and Retina Research Institute of Texas, Abilene)...
June 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28566945/inflammation-opportunities-for-treatment-stratification-among-individuals-diagnosed-with-mood-disorders
#16
Mehala Subramaniapillai, Nicole E Carmona, Carola Rong, Roger S McIntyre
Mood disorders continue to be a significant burden to those affected, resulting in significant illness-associated disability and premature mortality. In addition to mood disturbance, individuals also suffer from other transdiagnostic impairments (eg, anhedonia and cognitive impairment). Although there have been significant advancements in psychiatric treatment over the last few decades, treatment efficacy (eg, symptom remission, lack of functional recovery, and disease modification) continues to be an important limitation...
March 2017: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/28562255/behavioral-problems-and-socioemotional-competence-at-18-to-22-months-of-extremely-premature-children
#17
Myriam Peralta-Carcelen, Waldemar A Carlo, Athina Pappas, Yvonne E Vaucher, Keith Owen Yeates, Vivien A Phillips, Kathryn E Gustafson, Allison H Payne, Andrea F Duncan, Jamie E Newman, Carla M Bann
BACKGROUND: Behavior and socioemotional development are crucial aspects of child development . METHODS: A total of 2505 children born at <27 weeks' gestation was evaluated at 18 to 22 months' corrected age between January 1, 2008 and December 12, 2012 (86% follow-up). The Brief Infant and Toddler Social and Emotional Assessment was used to evaluate behavioral and socioemotional problems. Cognition and language were evaluated by using the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III)...
May 19, 2017: Pediatrics
https://www.readbyqxmd.com/read/28554723/new-treatments-targeting-the-basic-defects-in-cystic-fibrosis
#18
Isabelle Fajac, Claire E Wainwright
Cystic fibrosis (CF) is a monogenic autosomal recessive disorder affecting around 75,000 individuals worldwide. It is a multi-system disease but the main morbidity and mortality is caused by chronic lung disease. Due to newborn screening, a multidisciplinary approach to care and intensive symptomatic treatment, the prognosis has dramatically improved over the last decades and there are currently more adults than children in many countries. However, CF is still a very severe disease with a current median age of life expectancy in the fourth decade of life...
May 26, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28538237/update-on-postnatal-steroids
#19
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
#20
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
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