keyword
MENU ▼
Read by QxMD icon Read
search

Congenital birth defects

keyword
https://www.readbyqxmd.com/read/29341296/the-five-year-survival-of-children-with-down-syndrome-in-norway-1994-2009-differed-by-associated-congenital-heart-defects-and-extracardiac-malformations
#1
Kristoffer Brodwall, Gottfried Greve, Elisabeth Leirgul, Kari Klungsøyr, Henrik Holmstrøm, Stein Emil Vollset, Nina Øyen
AIM: We investigated the prevalence of Down syndrome in a nationwide birth cohort, focusing on congenital heart defects, their associations with extracardiac malformations, and survival. METHODS: National registers were used to identify Norwegian births (1994-2009) and deaths (1994-2014) and updated with hospital diagnoses. We estimated birth defect frequencies in Down syndrome and the general population, the association between heart defects and extracardiac malformations and hazard ratios for death from different combinations of heart defects and extracardiac malformations...
January 17, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29341044/antenatal-medical-therapies-to-improve-lung-development-in-congenital-diaphragmatic-hernia
#2
Aidan Kashyap, Philip DeKoninck, Kelly Crossley, Marta Thio, Graeme Polglase, Francesca Maria Russo, Jan Deprest, Stuart Hooper, Ryan Hodges
Congenital diaphragmatic hernia (CDH) is a birth defect characterized by failed closure of the diaphragm, allowing abdominal viscera to herniate into the thoracic cavity and subsequently impair pulmonary and vascular development. Despite improving standardized postnatal management, there remains a population of severe CDH for whom postnatal care falls short. In these severe cases, antenatal surgical intervention (fetoscopic endoluminal tracheal occlusion [FETO]) may improve survival; however, FETO increases the risk of preterm delivery, is not widely offered, and still fails in half of cases...
January 16, 2018: American Journal of Perinatology
https://www.readbyqxmd.com/read/29336632/m%C3%A3-bius-syndrome-with-cardiac-rhabdomyomas
#3
Aimee Verner, Swati Agarwal-Sinha, Frank Yanfeng Han
BACKGROUND: Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb, and other abnormalities. Heterogeneity is well known in patients with Möbius syndrome and rather than being of familial inheritance based on rare cases, it is much more recognized as a sporadic syndrome. We report an infant with features of congenital Möbius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis...
January 16, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29331320/zika-dengue-and-yellow-fever-viruses-induce-differential-anti-viral-immune-responses-in-human-monocytic-and-first-trimester-trophoblast-cells
#4
Huanle Luo, Evandro R Winkelmann, Ildefonso Fernandez-Salas, Li Li, Sandra V Mayer, Rogelio Daniz-Lozano, Rosa Ma Sanchez-Casas, Nikos Vasilakis, Robert Tesh, Alan D Barrett, Scott C Weaver, Tian Wang
Zika virus (ZIKV) is a mosquito-borne flavivirus associated with severe neonatal birth defects, but the causative mechanism is incompletely understood. ZIKV shares sequence homology and early clinical manifestations with yellow fever virus (YFV) and dengue virus (DENV) and are all transmitted in urban cycles by the same species of mosquitoes. However, YFV and DENV have been rarely reported to cause congenital diseases. Here, we compared infection with a contemporary ZIKV strain (FSS13025) to YFV17D and DENV-4 in human monocytic cells (THP-1) and first-trimester trophoblasts (HTR-8)...
January 10, 2018: Antiviral Research
https://www.readbyqxmd.com/read/29329527/emotional-and-cognitive-experiences-during-the-time-of-diagnosis-and-decision-making-following-a-prenatal-diagnosis-a-qualitative-study-of-males-presented-with-congenital-heart-defect-in-the-fetus-carried-by-their-pregnant-partner
#5
Tommy Carlsson, Elisabet Mattsson
BACKGROUND: Expectant fathers consider the second-trimester obstetric ultrasound examination as an important step towards parenthood, but are ill prepared for a detection of a fetal anomaly. Inductive research is scarce concerning their experiences and needs for support. Consequently, the aim of this study was to explore the emotional and cognitive experiences, during the time of diagnosis and decision-making, among males presented with congenital heart defect in the fetus carried by their pregnant partner...
January 12, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29328793/novel-molecular-and-phenotypic-insights-into-congenital-lung-malformations
#6
Daniel T Swarr, William H Peranteau, Jennifer Pogoriler, David B Frank, N Scott Adzick, Holly L Hedrick, Mike Morley, Su Zhou, Edward E Morrisey
RATIONALE: Disruption of normal pulmonary development is a leading cause of morbidity and mortality in infants. Congenital lung malformations are a unique model to study the molecular pathogenesis of isolated structural birth defects as they are often surgically resected. OBJECTIVES: To provide insight into the molecular pathogenesis of congenital lung malformations through analysis of cell-type and gene expression changes in these lesions. METHODS: Clinical data, and lung tissue for DNA, RNA, and histology were obtained from 58 infants undergoing surgical resection of a congenital lung lesion...
January 12, 2018: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29327490/fetal-subcutaneous-cells-have-potential-for-autologous-tissue-engineering
#7
Åsa Ekblad, Magnus Westgren, Magdalena Fossum, Cecilia Götherström
BACKGROUND: Major congenital malformations affect up to 3% of newborns. Infants with prenatally diagnosed soft tissue defects should benefit from having autologous tissue readily available for surgical implantation in the perinatal period. In this study, we investigate fetal subcutaneous cells (fSC) as cellular source for tissue engineering. METHODS: Fetal subcutaneous biopsies were collected from elective terminations at gestational week 20-21. Cells were isolated, expanded and characterized in vitro...
January 11, 2018: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/29325785/characteristics-and-outcomes-of-children-with-ductal-dependent-congenital-heart-disease-and-esophageal-atresia-tracheoesophageal-fistula-a-multi-institutional-analysis
#8
Kriti Puri, Shaine A Morris, Carlos M Mery, Yunfei Wang, Brady S Moffett, Jeffrey S Heinle, J Ruben Rodriguez, Lara S Shekerdemian, Antonio G Cabrera
BACKGROUND: Extracardiac birth defects are associated with worse outcomes in congenital heart disease (CHD). The impact of esophageal atresia/trachea-esophageal fistula (EA/TEF) on outcomes after surgery for ductal-dependent CHD is unknown. METHODS: Retrospective matched cohort study using the Pediatric Health Information System database from 07/2004 to 06/2015. Hospitalizations with ductal-dependent CHD and EA/TEF, undergoing CHD surgery were included as cases...
January 8, 2018: Surgery
https://www.readbyqxmd.com/read/29318367/-vascular-anomalies-part%C3%A2-ii-vascular-malformations
#9
S Mylonas, S Brunkwall, J Brunkwall
Vascular malformations are congenital vascular anomalies with normal endothelial turnover, which can affect the whole vessel tree (arterial, capillary or lymphatic) both as isolated defects or as part of a syndrome. Developmental errors during embryogenesis, such as abnormal signaling processes that control the apoptosis, maturation and growth of vascular cells, lead to the persistence of vascular plexus cells with some degree of differentiation. Vascular malformations are usually present at birth, although symptoms or complications may be manifested later...
January 9, 2018: Der Chirurg; Zeitschrift Für Alle Gebiete der Operativen Medizen
https://www.readbyqxmd.com/read/29308367/retinoic-acid-embryopathy
#10
Dipankar Mondal, Sreekanth R Shenoy, Santisena Mishra
Isotretinoin is a retinoid which is derived from Vitamin A. It is indicated for severe cystic acne treatment, but it has been classified as teratogenic. A wide spectrum of birth defects including craniofacial, heart, and nervous system malformations have been described with prenatal exposure to this drug. We report the case of a newborn with a history of prenatal exposure to isotretinoin with craniofacial defects, including left-sided anotia, right-sided microtia, complex congenital heart disease, and central nervous system malformation...
October 2017: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/29305550/comparison-of-four-serological-methods-and-two-rt-pcr-assays-for-diagnosis-and-surveillance-of-zika
#11
Angel Balmaseda, Jose Victor Zambrana, Damaris Collado, Nadezna Garcia, Saira Saborío, Douglas Elizondo, Juan Carlos Mercado, Karla Gonzalez, Cristhiam Cerpas, Andrea Nuñez, Davide Corti, Jesse J Waggoner, Guillermina Kuan, Raquel Burger-Calderon, Eva Harris
Zika virus (ZIKV) is a mosquito-borne flavivirus that is responsible for recent explosive epidemics in the Americas. Notably, ZIKV infection during pregnancy has been found to cause congenital birth defects, including microcephaly, and ZIKV has been associated with Guillain Barré Syndrome in adults. Diagnosis and surveillance of Zika in the Americas have been challenging due to similar clinical manifestations and extensive antibody cross-reactivity with endemic flaviviral diseases, like dengue. We evaluated four serological and two RT-PCR methods in acute (mean day 1...
January 5, 2018: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/29302186/risks-versus-benefits-of-medication-use-during-pregnancy-what-do-women-perceive
#12
Bianca Mulder, Maarten J Bijlsma, Catharina Cm Schuiling-Veninga, Leonard P Morssink, Eugene van Puijenbroek, Jan G Aarnoudse, Eelko Hak, Tjalling W de Vries
Background: Understanding perception of risks and benefits is essential for informed patient choices regarding medical care. The primary aim of this study was to evaluate the perception of risks and benefits of 9 drug classes during pregnancy and associations with women's characteristics. Methods: Questionnaires were distributed to pregnant women who attended a Dutch Obstetric Care facility (first- and second-line care). Mean perceived risk and benefit scores were computed for 9 different drug classes (paracetamol, antacids, antibiotics, antifungal medication, drugs against nausea and vomiting, histamine-2 receptor antagonists/proton pump inhibitors, antidepressants, nonsteroidal anti-inflammatory drugs, and sedatives/anxiolytics)...
2018: Patient Preference and Adherence
https://www.readbyqxmd.com/read/29301846/epithelial-properties-of-the-second-heart-field
#13
REVIEW
Claudio Cortes, Alexandre Francou, Christopher De Bono, Robert G Kelly
The vertebrate heart tube forms from epithelial progenitor cells in the early embryo and subsequently elongates by progressive addition of second heart field (SHF) progenitor cells from adjacent splanchnic mesoderm. Failure to maximally elongate the heart results in a spectrum of morphological defects affecting the cardiac poles, including outflow tract alignment and atrioventricular septal defects, among the most common congenital birth anomalies. SHF cells constitute an atypical apicobasally polarized epithelium with dynamic basal filopodia, located in the dorsal wall of the pericardial cavity...
January 5, 2018: Circulation Research
https://www.readbyqxmd.com/read/29298325/conditional-ablation-of-the-rfx4-isoform-1-transcription-factor-allele-dosage-effects-on-brain-phenotype
#14
Ping Xu, James P Morrison, Julie F Foley, Deborah J Stumpo, Toni Ward, Darryl C Zeldin, Perry J Blackshear
Regulatory factor X4 (RFX4) isoform 1 is a recently discovered isoform of the winged helix transcription factor RFX4, which can bind to X-box consensus sequences that are enriched in the promoters of cilia-related genes. Early insertional mutagenesis studies in mice first identified this isoform, and demonstrated that it was crucial for mouse brain development. RFX4 isoform 1 is the only RFX4 isoform significantly expressed in the mouse fetal and adult brain. In this study, we evaluated conditional knock-out (KO) mice in which one or two floxed alleles of Rfx4 were deleted early in development through the use of a Sox2-Cre transgene...
2018: PloS One
https://www.readbyqxmd.com/read/29288186/long-term-early-development-research-in-congenital-heart-disease-leader-chd-a-study-protocol-for-a-prospective-cohort-observational-study-investigating-the-development-of-children-after-surgical-correction-for-congenital-heart-defects-during-the-first-3-years
#15
Hannah Ferentzi, Constanze Pfitzer, Lisa-Maria Rosenthal, Felix Berger, Katharina R L Schmitt
INTRODUCTION: Congenital heart disease (CHD) is the most common birth defect. Studies on the development of children with CHD point towards deficits in motoric, cognitive and language development. However, most studies are cross-sectional and there is a gap in the knowledge concerning developmental trajectories, risk and protective factors and a lack of research concerning environmental predictors. Specifically, no studies have so far considered the importance of early caregiving experiences and child temperament for the development of children with CHD...
December 28, 2017: BMJ Open
https://www.readbyqxmd.com/read/29283374/tongue-abnormalities-are-associated-to-a-maternal-folic-acid-deficient-diet-in-mice
#16
Estela Maldonado, Yamila López-Gordillo, Teresa Partearroyo, Gregorio Varela-Moreiras, Concepción Martínez-Álvarez, Juliana Pérez-Miguelsanz
It is widely accepted that maternal folic acid (FA) deficiency during pregnancy is a risk factor for abnormal development. The tongue, with multiple genes working together in a coordinated cascade in time and place, has emerged as a target organ for testing the effect of FA during development. A FA-deficient (FAD) diet was administered to eight-week-old C57/BL/6J mouse females for 2-16 weeks. Pregnant dams were sacrificed at gestational day 17 (E17). The tongues and heads of 15 control and 210 experimental fetuses were studied...
December 28, 2017: Nutrients
https://www.readbyqxmd.com/read/29278735/expanding-the-fanco-rad51c-associated-phenotype-cleft-lip-and-palate-and-lobar-holoprosencephaly-two-rare-findings-in-fanconi-anemia
#17
Adeline Jacquinet, Lindsay Brown, Jessica Sawkins, Pengfei Liu, Denise Pugash, Margot I Van Allen, Millan S Patel
Fanconi anemia is a rare chromosome instability disorder with a highly variable phenotype. In the antenatal and neonatal periods, the diagnosis is usually suggested by the presence of typical congenital abnormalities such as intrauterine growth retardation, microcephaly and radial ray defects. We report a newborn female with a prenatal diagnosis of Fanconi anemia, complementation group O (FANCO). Antenatal ultrasounds identified symmetrical intrauterine growth retardation, complex heart defect as well as brain anomalies, overlapping fingers and cleft lip and palate...
December 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29276880/isolated-thoracoschisis-case-report
#18
Burak Ardıçlı, Ayşe Karaman, Ahmet Özyazıcı, Ayşegül Zenciroğlu, Nurullah Okumuş
Ardıçlı B, Karaman A, Özyazıcı A, Zenciroğlu A, Okumuş N. Isolated thoracoschisis: Case report. Turk J Pediatr 2017; 59: 217-220. Thoracoschisis is a rare congenital anomaly that refers to a congenital fissure of the chest wall. It is frequently accompanied with other congenital defects of the limbs and the abdominal wall as part of the limb-body wall complex, which is exencephaly/encephalocele and facial clefts, thoracoschisis and/or abdominoschisis and limb defects. Isolated thoracoschisis is a rare entity...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29250692/esophageal-atresia-with-distal-fistula-unusual-case-series-considerations-related-to-epidemiological-aspects-malformative-associations-and-prenatal-diagnosis
#19
Maria Livia Ognean, Laura Corina Zgârcea, Laura Bălănescu, Oana Boantă, Raluca Elena Dumitra, Florin Grosu, Dan Georgian Bratu, Adrian Gheorghe Boicean, Liliana Coldea, Radu Chicea
BACKGROUND: Esophageal atresia (EA) is the most frequent and severe congenital anomaly of the esophagus, occurring in 1:2500-1:4500 live births. Five types of EA have been described, EA with tracheoesophageal fistula (TEF) being the most frequent. AIM: The aim of this paper is to evaluate epidemiological aspects, malformative associations, and prenatal diagnosis in an unusual case series of EA with distal TEF. CASE PRESENTATIONS: The authors are analyzing a series of seven cases of EA with distal TEF...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29248886/impact-of-birth-characteristics-breast-feeding-and-vital-statistics-on-the-eruption-of-primary-teeth-among-healthy-infants-in-saudi-arabia-an-observational-study
#20
Kholoud Abdullah Alnemer, Sharat Chandra Pani, Alaa M Althubaiti, Manal Bawazeer
OBJECTIVES: This study aimed to explore the impact of gender, birth weight, maternal age, type of delivery, gestational age and feeding practices on the eruption of teeth in children with no underlying medical conditions or developmental defects in their first year of life. DESIGN: A cross-sectional observational study design was used. SETTING: A primary healthcare setting in Riyadh, Saudi Arabia. PARTICIPANTS: All children in their first year of life attending a vaccination clinic (n=422) were included in the study...
December 15, 2017: BMJ Open
keyword
keyword
36203
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"