keyword
MENU ▼
Read by QxMD icon Read
search

correction for prematurity

keyword
https://www.readbyqxmd.com/read/29672717/antisense-oligonucleotides-correct-the-familial-dysautonomia-splicing-defect-in-ikbkap-transgenic-mice
#1
Rahul Sinha, Young Jin Kim, Tomoki Nomakuchi, Kentaro Sahashi, Yimin Hua, Frank Rigo, C Frank Bennett, Adrian R Krainer
Familial dysautonomia (FD) is a rare inherited neurodegenerative disorder caused by a point mutation in the IKBKAP gene that results in defective splicing of its pre-mRNA. The mutation weakens the 5' splice site of exon 20, causing this exon to be skipped, thereby introducing a premature termination codon. Though detailed FD pathogenesis mechanisms are not yet clear, correcting the splicing defect in the relevant tissue(s), thus restoring normal expression levels of the full-length IKAP protein, could be therapeutic...
April 17, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29664498/-hypophosphatemia-in-preterm-infants-a-bimodal-disorder
#2
María Paz Cubillos Celis, Patricia Mena Nannig
New nutritional approaches to treat extreme premature babies have demonstrated relevant eviden ce of metabolic disturbances with early hypophosphatemia, especially in patients with intrauterine growth restriction (IUGR). They have shown late hypophosphatemia, as well, which is characteristic in the metabolic bone disease. A sytematic search of literature describing metabolic disturbances of phosphorus in preterm newborns is presented, related to the use of early parenteral nutrition and also in the context of metabolic bone disease...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29659125/extremely-preterm-children-exhibit-increased-interhemispheric-connectivity-for-language-findings-from-fmri-constrained-meg-analysis
#3
Maria E Barnes-Davis, Stephanie L Merhar, Scott K Holland, Darren S Kadis
Children born extremely preterm are at significant risk for cognitive impairment, including language deficits. The relationship between preterm birth and neurological changes that underlie cognitive deficits is poorly understood. We use a stories-listening task in fMRI and MEG to characterize language network representation and connectivity in children born extremely preterm (n = 15, <28 weeks gestation, ages 4-6 years), and in a group of typically developing control participants (n = 15, term birth, 4-6 years)...
April 16, 2018: Developmental Science
https://www.readbyqxmd.com/read/29652656/electrocardiogram-abnormalities-related-to-anti-malarials-in-systemic-lupus-erythematosus
#4
Taneisha K McGhie, Paula Harvey, Jiandong Su, Nicole Anderson, George Tomlinson, Zahi Touma
OBJECTIVES: Cardiotoxicity with potential conduction/structural abnormalities on electrocardiogram (ECG) have been reported with anti-malarial (AM). We aimed to study whether cumulative AM is associated with ECG abnormalities. METHODS: A standard resting supine ECG was performed on consecutive patients attending the Lupus Clinic since 2012. ECG abnormalities were grouped into structural [left ventricular hypertrophy or atrial enlargement] and conduction abnormalities [prolonged corrected QT interval (QTc), short PR interval, left bundle branch block (LBBB), right bundle branch block (RBBB) and atrioventricular block (AVB), bradycardia, tachycardia, premature atrial complex, ectopic atrial rhythm, atrial fibrillation, premature ventricular complex and ventricular bigeminy]...
April 13, 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29650757/conformational-flexibility-within-the-nascent-polypeptide-associated-complex-enables-its-interactions-with-structurally-diverse-client-proteins
#5
Esther M Martin, Matthew P Jackson, Martin Gamerdinger, Karina Gense, Theodoros K Karamanos, Julia R Humes, Elke Deuerling, Alison E Ashcroft, Sheena E Radford
As newly synthesized polypeptides emerge from the ribosome, it is crucial that they fold correctly. To prevent premature aggregation, nascent chains interact with chaperones that facilitate folding or prevent misfolding until protein synthesis is complete. Nascent polypeptide-associated complex (NAC) is a ribosome-associated chaperone important for protein homeostasis. However, how NAC binds its substrates remains unclear. Using native electrospray ionization MS (ESI MS), limited proteolysis, NMR and cross-linking, we analysed the conformational properties of NAC from Caenorhabditis elegans and studied its ability to bind proteins in different conformational states...
April 12, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29627398/anatomical-investigations-on-intraosseous-access-in-stillborns-comparison-of-different-devices-and-techniques
#6
Zeynep Fuchs, Martin Scaal, Heinz Haverkamp, Friederike Koerber, Thorsten Persigehl, Frank Eifinger
AIM: Intraosseous (IO)-access plays an alternative route during resuscitation. Our study was performed to investigate the successful rate of IO-access in preterm and term stillborns using different devices and techniques. METHODS: The cadavers used were legal donations. 16 stillborns, median: 29.2weeks (IQR 27.2-38.4) were investigated. Two different needles (a: Butterfly needle,21G,Venofix® Fa.Braun; b: Arrow® EZ-IO® 15G, Teleflex,Dublin,Ireland) were used. Needles were inserted i: manually, using a Butterfly needle; ii: manually, using EZ-IO® needle or iii: using a battery-powered semi-automatic drill (Arrow® EZ-IO® )...
April 5, 2018: Resuscitation
https://www.readbyqxmd.com/read/29627188/maternal-black-race-and-persistent-wheezing-illness-in-former-extremely-low-gestational-age-newborns-secondary-analysis-of-a-randomized-trial
#7
Katherine C Wai, Anna M Hibbs, Martina A Steurer, Dennis M Black, Jeanette M Asselin, Eric C Eichenwald, Philip L Ballard, Roberta A Ballard, Roberta L Keller
OBJECTIVE: To evaluate the relationship between maternal self-reported race/ethnicity and persistent wheezing illness in former high-risk, extremely low gestational age newborns, and to quantify the contribution of socioeconomic, environmental, and biological factors on this relationship. STUDY DESIGN: We assessed persistent wheezing illness determined at 18-24 months corrected (for prematurity) age in survivors of a randomized trial. Parents/caregivers were surveyed for wheeze and inhaled asthma medication use quarterly to 12 months, and at 18 and 24 months...
April 4, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29625509/adult-congenital-heart-disease-with-pregnancy
#8
REVIEW
Koichiro Niwa
The number of women with congenital heart disease (CHD) at risk of pregnancy is growing because over 90% of them are grown-up into adulthood. The outcome of pregnancy and delivery is favorable in most of them provided that functional class and systemic ventricular function are good. Women with CHD such as pulmonary hypertension (Eisenmenger syndrome), severe left ventricular outflow stenosis, cyanotic CHD, aortopathy, Fontan procedure and systemic right ventricle (complete transposition of the great arteries [TGA] after atrial switch, congenitally corrected TGA) carry a high-risk...
April 2018: Korean Circulation Journal
https://www.readbyqxmd.com/read/29623136/the-effects-of-continuous-positive-airway-pressure-on-premature-ventricular-contractions-and-ventricular-wall-stress-in-patients-with-heart-failure-and-sleep-apnea
#9
Sabri Seyis, Adnan Kazım Usalan, Ibrahim Rencuzogullari, Özge Kurmuş, Adil Can Gungen
Background: We aimed to investigate the effects of continuous positive airway pressure (CPAP) treatment on electrocardiography (ECG), premature ventricular contraction load on 24-hour Holter recordings, and implantable cardioverter defibrillator (ICD) shocks in patients with obstructive sleep apnea syndrome (OSAS) and heart failure. Methods: Patients with heart failure and ICD and patients with newly diagnosed OSAS were divided into two groups according to CPAP treatment...
2018: Canadian Respiratory Journal: Journal of the Canadian Thoracic Society
https://www.readbyqxmd.com/read/29621622/outcomes-of-the-arterial-switch-operation-in-%C3%A2-2-5kg-neonates
#10
Michael Salna, Paul J Chai, David Kalfa, Yuki Nakamura, Ganga Krishnamurthy, Jan M Quaegebeur, Marc Najjar, Amee Shah, Stephanie Levasseur, Brett R Anderson, Emile A Bacha
OBJECTIVES: While low birth weight is a known risk factor for mortality in congenital heart lesions and may consequently delay surgical repair, outcomes in low weight neonates undergoing the arterial switch operation have not been well described. Our objective was to assess the safety of this procedure in infants weighing ≤2.5kg at the time of surgery. METHODS: We retrospectively analyzed outcomes for all neonates undergoing the arterial switch operation at our institution from 2005 to 2015...
April 2, 2018: Seminars in Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29619932/mortality-and-morbidity-in-patients-with-osteogenesis-imperfecta-in-denmark
#11
Lars Folkestad
Ostegenesis imperfecta (OI) is a hereditary disease of the connective tissue caused by mutations to, mainly, the genes that are involved in the biosynthesis of collagen type 1. Patients are grouped according to clinical severity and mode of inheritance according to Sillence's classification (originally 1979, updated 2014). According to our data, the population prevalence of OI in Denmark was 10.3 per 100,000, with 575 patients registered with an OI diagnosis in the National Patient Register and alive at the end of 2012 out of a total population of 5,602,628 persons...
April 2018: Danish Medical Journal
https://www.readbyqxmd.com/read/29617655/ptcd1-is-required-for-16s-rrna-maturation-complex-stability-and-mitochondrial-ribosome-assembly
#12
Kara L Perks, Giulia Rossetti, Irina Kuznetsova, Laetitia A Hughes, Judith A Ermer, Nicola Ferreira, Jakob D Busch, Danielle L Rudler, Henrik Spahr, Thomas Schöndorf, Ann-Marie J Shearwood, Helena M Viola, Stefan J Siira, Livia C Hool, Dusanka Milenkovic, Nils-Göran Larsson, Oliver Rackham, Aleksandra Filipovska
The regulation of mitochondrial RNA life cycles and their roles in ribosome biogenesis and energy metabolism are not fully understood. We used CRISPR/Cas9 to generate heart- and skeletal-muscle-specific knockout mice of the pentatricopeptide repeat domain protein 1, PTCD1, and show that its loss leads to severe cardiomyopathy and premature death. Our detailed transcriptome-wide and functional analyses of these mice enabled us to identify the molecular role of PTCD1 as a 16S rRNA-binding protein essential for its stability, pseudouridylation, and correct biogenesis of the mitochondrial large ribosomal subunit...
April 3, 2018: Cell Reports
https://www.readbyqxmd.com/read/29608235/an-electrocardiographic-diagnostic-model-for-differentiating-left-from-right-ventricular-outflow-tract-tachycardia-origin
#13
Zhuoqiao He, Ming Liu, Min Yu, Nan Lu, Jia Li, Tan Xu, Jinxiu Zhu, Mary Clare O'Gara, Michael O'Meara, Hong Ye, Xuerui Tan
INTRODUCTION: Although several electrocardiographic (ECG) algorithms have been proposed for differentiating the origins of outflow tract ventricular arrhythmias, the most optimal one has not been agreed on. The purpose of this study was to establish an ECG diagnostic model based on the previous ECG algorithms. METHODS AND RESULTS: The following ECG diagnostic model, Y = -1.15 × (TZ) -0.494 × (V2S/V3R), was developed by standard 12-lead ECG algorithms in 488 patients with idiopathic premature ventricular contractions or ventricular tachycardia with a left bundle branch block pattern and inferior axis QRS morphology...
April 2, 2018: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/29603723/training-of-parental-scaffolding-in-high-socio-economic-status-families-how-do-parents-of-full-and-preterm-born-toddlers-benefit
#14
Kim Angeles Gärtner, Verena Clara Vetter, Michaela Schäferling, Gitta Reuner, Silke Hertel
BACKGROUND: Preterm children have an increased risk regarding self-regulation development. Given the strong link between parenting behaviour (i.e., scaffolding and sensitivity) and children's self-regulation, parental training presents a promising way to counteract the negative consequences of preterm birth. AIMS: We explored the effectiveness of parental training by comparing a basic scaffolding training and a combined scaffolding/sensitivity training to an active treatment-control group (stress management)...
March 30, 2018: British Journal of Educational Psychology
https://www.readbyqxmd.com/read/29596840/reduced-abd-b-hox-function-during-kidney-development-results-in-lineage-infidelity
#15
Bliss Magella, Robert Mahoney, Mike Adam, S Steven Potter
Hox genes can function as key drivers of segment identity, with Hox mutations in Drosophila often resulting in dramatic homeotic transformations. In addition, however, they can serve other essential functions. In mammals, the study of Hox gene roles in development is complicated by the presence of four Hox clusters with a total of 39 genes showing extensive functional overlap. In this study, in order to better understand shared core Hox functions, we examined kidney development in mice with frameshift mutations of multiple Abd-B type Hox genes...
March 26, 2018: Developmental Biology
https://www.readbyqxmd.com/read/29579560/term-equivalent-functional-brain-maturational-measures-predict-neurodevelopmental-outcomes-in-premature-infants
#16
Nathalie M El Ters, Zachary A Vesoulis, Steve M Liao, Christopher D Smyser, Amit M Mathur
BACKGROUND: Term equivalent age (TEA) brain MRI identifies preterm infants at risk for adverse neurodevelopmental outcomes. But some infants may experience neurodevelopmental impairments even in the absence of neuroimaging abnormalities. OBJECTIVE: Evaluate the association of TEA amplitude-integrated EEG (aEEG) measures with neurodevelopmental outcomes at 24-36 months corrected age. METHODS: We performed aEEG recordings and brain MRI at TEA (mean post-menstrual age of 39 (±2) weeks in a cohort of 60 preterm infants born at a mean gestational age of 26 (±2) weeks...
April 2018: Early Human Development
https://www.readbyqxmd.com/read/29573260/correcting-for-prematurity-with-the-bayley-scales-of-infant-development
#17
Domenico M Romeo
No abstract text is available yet for this article.
March 24, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29573212/medication-use-in-infants-admitted-with-bronchiolitis
#18
Ed Oakley, Trusha Brys, Meredith Borland, Jocelyn Neutze, Natalie Phillips, David Krieser, Stuart R Dalziel, Andrew Davidson, Susan Donath, Kim Jachno, Mike South, Amanda Williams, Franz E Babl
BACKGROUND: There are no medications known that improve the outcome of infants with bronchiolitis. Studies have shown the management of bronchiolitis to be varied. OBJECTIVES: To describe medication use at the seven study hospitals from a recent multi-centre randomised controlled trial on hydration in bronchiolitis (comparative rehydration in bronchiolitis [CRIB]). METHODS: A retrospective analysis of extant data of infants between 2 months (corrected for prematurity) and 12 months of age admitted with bronchiolitis identified through the CRIB trial...
March 23, 2018: Emergency Medicine Australasia: EMA
https://www.readbyqxmd.com/read/29561715/genetic-analysis-of-syndromic-and-nonsyndromic-patients-with-craniosynostosis-identifies-novel-mutations-in-the-twist1-and-efnb1-genes
#19
Despina Apostolopoulou, Olga S Kaxira, Angeliki Hatzaki, Kanaris P Panagopoulos, Konstantinos Alexandrou, Alexander Stratoudakis, Panagoula Kollia, Vassiliki Aleporou
INTRODUCTION: Craniosynostosis, the premature fusion of cranial sutures, is usually divided into 2 major categories: syndromic and nonsyndromic. Mutations in the FGFR1, FGFR2, FGFR3, TWIST1, and EFNB1 genes cause the common craniosynostosis syndromes Muenke, Crouzon and Crouzon with acanthosis nigricans, Apert, Pfeiffer, Saethre-Chotzen, and Craniofrontonasal. Overlapping features among craniosynostosis syndromes, phenotypic heterogeneity even within the same syndrome, especially in the case of Muenke syndrome, and inadequate clinical evaluation can lead to misdiagnosis, which molecular testing can help clarify...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29559762/pulmonary-atelectasis-in-newborns-with-clinically-treatable-diseases-who-are-on-mechanical-ventilation-clinical-and-radiological-aspects
#20
Mariana Chiaradia Dominguez, Beatriz Regina Alvares
Objective: To analyze the radiological aspects of pulmonary atelectasis in newborns on mechanical ventilation and treated in an intensive care unit, associating the characteristics of atelectasis with the positioning of the head and endotracheal tube seen on the chest X-ray, as well as with the clinical variables. Materials and Methods: This was a retrospective cross-sectional study of 60 newborns treated between 1985 and 2015. Data were collected from medical records and radiology reports...
January 2018: Radiologia Brasileira
keyword
keyword
92713
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"