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Congenital birth defects

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https://www.readbyqxmd.com/read/28650705/current-and-emerging-treatments-for-postsurgical-cleft-lip-scarring-effectiveness-and-mechanisms
#1
E Papathanasiou, C A Trotman, A R Scott, T E Van Dyke
Cleft lip with or without cleft palate is the most common congenital malformation of the head and the third-most common birth defect. Surgical repair of the lip is the only treatment and is usually performed during the first year of life. Hypertrophic scar (HTS) formation is a frequent postoperative complication that impairs soft tissue form, function, or movement. Multiple lip revision operations are often required throughout childhood, attempting to optimize aesthetics and function. The mechanisms guiding HTS formation are multifactorial and complex...
June 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28648522/are-children-born-with-birth-defects-at-increased-risk-of-injuries-in-early-childhood
#2
Rachel E Rutkowski, Jason L Salemi, Jean Paul Tanner, Suzanne Anjohrin, Philip Cavicchia, Heather Lake-Burger, Russell S Kirby
OBJECTIVE: To investigate the extent to which children with birth defects experience differential likelihood of various injuries and injury-related hospitalizations in early childhood. STUDY DESIGN: The Florida Birth Defects Registry was used to identify infants born 2006-2010 with select birth defects. Injury matrices were used to detect injuries in inpatient, ambulatory, and emergency department admissions for each infant up to their third birthday. χ(2)tests were used to compare sociodemographic and perinatal characteristics of children, by presence of an injury-related hospital admission...
June 22, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28648508/iodide-handling-disorders-nis-tpo-tg-iyd
#3
REVIEW
Héctor M Targovnik, Cintia E Citterio, Carina M Rivolta
Iodide Handling Disorders lead to defects of the biosynthesis of thyroid hormones (thyroid dyshormonogenesis, TD) and thereafter congenital hypothyroidism (CH), the most common endocrine disease characterized by low levels of circulating thyroid hormones. The prevalence of CH is 1 in 2000-3000 live births. Prevention of CH is based on prenatal diagnosis, carrier identification, and genetic counseling. In neonates a complete diagnosis of TD should include clinical examination, biochemical thyroid tests, thyroid ultrasound, radioiodine or technetium scintigraphy and perchlorate discharge test (PDT)...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28646847/prevalence-of-birth-defects-in-iran-a-systematic-review-and-meta-analysis
#4
Yadollah Zahed Pasha, Amin Vahedi, Mohammad Zamani, Reza Alizadeh-Navaei, Ermia Zahed Pasha
INTRODUCTION: Birth defects are a series of disorders that occur during embryonic life. In Iran, no national situation analysis is available to show the rate of congenital disorders. We aimed to estimate the prevalence of structural birth defects in Iran. METHODS: We searched for English studies on PubMed, Scopus and Google Scholar from January 1990 to July 2016. The search for Persian articles was performed in Scientific Information Database and Magiran. Two reviewers assessed the identified articles independently...
June 1, 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/28646505/hypomethylation-and-decreased-expression-of-brg1-in-the-myocardium-of-patients-with-congenital-heart-disease
#5
Yanyan Qian, Deyong Xiao, Xiao Guo, Hongbo Chen, Lili Hao, Xiaojing Ma, Guoying Huang, Duan Ma, Huijun Wang
BACKGROUND: BRG1, an ATPase subunit of the SWItch/Sucrose Non-Fermentable complex, is tightly associated with cardiac development. However, little is known about the association between the pathogenesis of CHD and BRG1. METHODS: The methylation of a BRG1 promoter and a novel CpG island in the second intron was analyzed in the myocardium of congenital heart disease (CHD) patients (n = 24) and normal controls (n = 11) using pyrosequencing and the MassARRAY platform...
June 24, 2017: Birth defects research
https://www.readbyqxmd.com/read/28637627/pulmonary-arterial-resistance-and-compliance-in-preterm-infants
#6
Seigo Okada, Jun Muneuchi, Yusaku Nagatomo, Mamie Watanabe, Chiaki Iida, Hiromitsu Shirouzu, Ryohei Matsuoka, Kunitaka Joo
BACKGROUND: Preterm birth is known to be associated with an increased risk of pulmonary arterial hypertension, although how preterm birth influences pulmonary hemodynamics has not been fully understood. Pulmonary arterial resistance (Rp) and compliance (Cp) are important factors to assess the pulmonary circulation. The purpose of this study is to clarify the relationship between Rp and Cp in preterm infants. METHODS: We performed cardiac catheterization in 96 infants (50 males) with ventricular septal defect, and compared pulmonary hemodynamic parameters including Rp and Cp between preterm and full-term infants...
June 16, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28631675/-the-morphological-and-clinical-aspects-of-the-curvature-of-the-nasal-septum
#7
V N Krasnozhen, D A Shcherbakov, A V Volodeev, L A Musina, Yu A Garskova
The curvature of the nasal septum (NS) is one of the most widespread deformations of the facial skeleton. The objective of the present study was to substantiate the principles of and develop the rationale for the surgical correction and conservative treatment of this condition based on the morphological features of various types of deflection of the nasal septum. We have undertaken the morphological analysis of the osseous and cartilaginous structures determining the type and the shape of the curvature of the nasal septum together with the clinical analysis of different morphological variants of the deflection of the nasal septum making use of the R...
2017: Vestnik Otorinolaringologii
https://www.readbyqxmd.com/read/28629786/-pregnancy-and-delivery-for-women-with-congenital-spinal-cord-defects-and-neurogenic-bladder
#8
Q Manach, M Dommergues, P Denys, K Loiseau, B Idiard-Chamois, E Chartier-Kastler, V Phé
INTRODUCTION: Data are scarce regarding pregnancy and delivery among women with a neurogenic bladder due to congenital spinal cord defects. OBJECTIVE: To report the obstetrical and urological outcomes of women with congenital spinal cord defects and vesico-sphincteric disorders. METHODS: A retrospective multicentric study included all consecutive women with a neurogenic bladder due to congenital spinal defects, who delivered between January 2005 and December 2014...
June 16, 2017: Progrès en Urologie
https://www.readbyqxmd.com/read/28628360/genetic-risk-factors-for-folate-responsive-neural-tube-defects
#9
Anne M Molloy, Faith Pangilinan, Lawrence C Brody
Neural tube defects (NTDs) are the most severe congenital malformations of the central nervous system. The etiology is complex, with both genetic and environmental factors having important contributions. Researchers have known for the past two decades that maternal periconceptional use of the B vitamin folic acid can prevent many NTDs. Though this finding is arguably one of the most important recent discoveries in birth defect research, the mechanism by which folic acid exerts this benefit remains unknown. Research to date has focused on the hypothesis that an underlying genetic susceptibility interacts with folate-sensitive metabolic processes at the time of neural tube closure...
June 19, 2017: Annual Review of Nutrition
https://www.readbyqxmd.com/read/28624760/how-do-smoking-cessation-medicines-compare-with-respect-to-their-neuropsychiatric-safety-a-protocol-for-a-systematic-review-network-meta-analysis-and-cost-effectiveness-analysis
#10
Kyla H Thomas, Deborah Caldwell, Michael N Dalili, David Gunnell, Marcus R Munafò, Matt Stevenson, Nicky J Welton
INTRODUCTION: Cigarette smoking is one of the leading causes of early death in the UK and worldwide. Public health guidance recommends the use of varenicline, bupropion and nicotine replacement therapy (NRT) as smoking cessation aids in the UK. Additionally, the first electronic cigarette has been licensed for use as a smoking cessation medicine. However, there are ongoing concerns about the safety of these medicines. We present a protocol for a systematic review and network meta-analysis (NMA) to determine how these smoking cessation medicines compare to each other with respect to their neuropsychiatric safety in adult smokers...
June 17, 2017: BMJ Open
https://www.readbyqxmd.com/read/28620608/a-path-to-implement-precision-child-health-cardiovascular-medicine
#11
REVIEW
Marlin Touma, Brian Reemtsen, Nancy Halnon, Juan Alejos, J Paul Finn, Stanley F Nelson, Yibin Wang
Congenital heart defects (CHDs) affect approximately 1% of live births and are a major source of childhood morbidity and mortality even in countries with advanced healthcare systems. Along with phenotypic heterogeneity, the underlying etiology of CHDs is multifactorial, involving genetic, epigenetic, and/or environmental contributors. Clear dissection of the underlying mechanism is a powerful step to establish individualized therapies. However, the majority of CHDs are yet to be clearly diagnosed for the underlying genetic and environmental factors, and even less with effective therapies...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28616342/bicuspid-aortic-valve-syndrome-a-multidisciplinary-approach-for-a-complex-entity
#12
REVIEW
María Martín, Rebeca Lorca, José Rozado, Rubén Alvarez-Cabo, Juan Calvo, Isaac Pascual, Helena Cigarrán, Isabel Rodríguez, César Morís
Bicuspid aortic valve (BAV) or bicuspid aortopathy is the most common congenital heart disease. It can be clinically silent and it is often identified as an incidental finding in otherwise healthy, asymptomatic patients. However, it can be dysfunctioning at birth, even requiring neonatal intervention, or, in time, lead to aortic stenosis, aortic insufficiency, and endocarditis, and also be associated with aortic aneurysm and aortic dissection. Given its prevalence and significant complications, it is estimated that BAV is responsible for more deaths and morbidity than the combined effects of all the other congenital heart defects...
May 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28615173/risk-of-major-congenital-malformations-in-relation-to-maternal-overweight-and-obesity-severity-cohort-study-of-1-2-million-singletons
#13
Martina Persson, Sven Cnattingius, Eduardo Villamor, Jonas Söderling, Björn Pasternak, Olof Stephansson, Martin Neovius
Objective To estimate the risks of major congenital malformations in the offspring of mothers who are underweight (body mass index (BMI) <18.5), overweight (BMI 25 to <30), or in obesity classes I (BMI 30 to <35), II (35 to <40), or III (≥40) compared with offspring of normal weight mothers (BMI 18.5 to <25) in early pregnancy.Design Population based cohort study.Setting Nationwide Swedish registries.Participants 1 243 957 liveborn singleton infants from 2001 to 2014 in Sweden. Data on maternal and pregnancy characteristics were obtained by individual record linkages...
June 14, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28600095/adult-congenital-interventions-in-heart-failure
#14
REVIEW
Hussam S Suradi, Ziyad M Hijazi
Congenital heart disease (CHD) is the most common birth defect, occurring in approximately 0.8% to 1.0% of neonates. Advances in medical and surgical therapies for children with CHD have resulted in a growing population of patients reaching adulthood, with survival rates exceeding 85%. Many of these patients, especially if managed inappropriately, face the prospect of future complications including heart failure and premature death. For adults with uncorrected or previously palliated CHD, percutaneous therapies have become the primary treatment for many forms of CHD...
July 2017: Interventional cardiology clinics
https://www.readbyqxmd.com/read/28599395/fetal-interventional-procedures-and-surgeries-a-practical-approach
#15
REVIEW
Ahmed A Nassr, Hadi Erfani, James E Fisher, Oluseyi K Ogunleye, Jimmy Espinoza, Michael A Belfort, Alireza A Shamshirsaz
The identification of congenital birth defects and fetal malformations continues to increase during the antenatal period with improved imaging techniques. Understanding of how to treat specific fetal conditions continues to improve outcomes from these treatment modalities. In an effort to further improvement in this field, we provide a review that begins with a brief background of fetal surgery including the history of fetal surgery, ethics surrounding fetal surgery, and considerations of how to treat the fetus during intervention...
May 24, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28599027/transition-of-adolescents-and-young-adults-with-congenital-heart-disease-challenges-progress-and-future-improvements
#16
Jeremy Nicolarsen
Congenital heart disease (CHD) is the most common and perhaps most widely variable birth defect. Decades of improved CHD care has resulted in a steady growth in the number and complexity of adults with CHD, and many of these patients require lifelong, specialized follow-up care. This begins with successful transition from pediatric-based to adult-based care. Despite the remarkable advances in this field, many adults with CHD still experience lapses in care that have significant health consequences. This review outlines some of the challenges, progress, and areas for improvement in CHD transition medicine...
June 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28598570/the-outcome-of-isolated-prenatal-ventricular-size-disproportion-in-the-absence-of-aortic-coarctation
#17
A E L van Nisselrooij, L Rozendaal, I Linskens, S A Clur, J Hruda, E Pajkrt, C L van Velzen, N A Blom, M C Haak
OBJECTIVES: Ventricular size disproportion is a marker for aortic coarctation (CoA) in fetal life, however, approximately 50% of fetuses do not develop CoA after birth. The aim of this study was to evaluate the postnatal outcome of cases with ventricular disproportion in the absence of CoA in this cohort. METHODS: All cases with prenatal isolated ventricular size disproportion in the period 2002-2015 were extracted from a prenatal congenital heart defects (CHD) registry of a regional cohort...
June 9, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28594943/childhood-cancer-risk-in-those-with-chromosomal-and-non-chromosomal-congenital-anomalies-in-washington-state-1984-2013
#18
Marlena S Norwood, Philip J Lupo, Eric J Chow, Michael E Scheurer, Sharon E Plon, Heather E Danysh, Logan G Spector, Susan E Carozza, David R Doody, Beth A Mueller
BACKGROUND: The presence of a congenital anomaly is associated with increased childhood cancer risk, likely due to large effects of Down syndrome and chromosomal anomalies for leukemia. Less is known about associations with presence of non-chromosomal anomalies. METHODS: Records of children diagnosed with cancer at <20 years of age during 1984-2013 in Washington State cancer registries were linked to their birth certificates (N = 4,105). A comparison group of children born in the same years was identified...
2017: PloS One
https://www.readbyqxmd.com/read/28594399/essential-but-partially-redundant-roles-for-pou4f1-brn-3a-and-pou4f2-brn-3b-transcription-factors-in-the-developing-heart
#19
Lauren J Maskell, Kashif Qamar, Aram A Babakr, Thomas A Hawkins, Richard J Heads, Vishwanie S Budhram-Mahadeo
Congenital heart defects contribute to embryonic or neonatal lethality but due to the complexity of cardiac development, the molecular changes associated with such defects are not fully understood. Here, we report that transcription factors (TFs) Brn-3a (POU4F1) and Brn-3b (POU4F2) are important for normal cardiac development. Brn-3a directly represses Brn-3b promoter in cardiomyocytes and consequently Brn-3a knockout (KO) mutant hearts express increased Brn-3b mRNA during mid-gestation, which is linked to hyperplastic growth associated with elevated cyclin D1, a known Brn-3b target gene...
June 8, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28592524/loss-of-function-in-robo1-is-associated-with-tetralogy-of-fallot-and-septal-defects
#20
Paul Kruszka, Pranoot Tanpaiboon, Katherine Neas, Kathleen Crosby, Seth I Berger, Ariel F Martinez, Yonit A Addissie, Yupada Pongprot, Rekwan Sittiwangkul, Suchaya Silvilairat, Krit Makonkawkeyoon, Lan Yu, Julia Wynn, James T Bennett, Heather C Mefford, William T Reynolds, Xiaoqin Liu, Mathilda T M Mommersteeg, Wendy K Chung, Cecilia W Lo, Maximilian Muenke
BACKGROUND: Congenital heart disease (CHD) is a common birth defect affecting approximately 1% of newborns. Great progress has been made in elucidating the genetic aetiology of CHD with advances in genomic technology, which we leveraged in recovering a new pathway affecting heart development in humans previously known to affect heart development in an animal model. METHODS: Four hundred and sixteen individuals from Thailand and the USA diagnosed with CHD and/or congenital diaphragmatic hernia were evaluated with chromosomal microarray and whole exome sequencing...
June 7, 2017: Journal of Medical Genetics
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