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https://www.readbyqxmd.com/read/29458230/perioperative-complications-of-congenital-diaphragmatic-hernia-repair
#1
Catarina Barroso, Jorge Correia-Pinto
Although improvements have been made, the management of congenital diaphragmatic hernia (CDH) remains a major challenge for perinatologists and neonatal surgeons. Many aspects of the disease remain unknown and, being a rare entity, evidence-based data are hard to find. Surgical morbidity is considerable and affects long-term quality of life. Perioperative complications have been reviewed focusing on thoracoscopic repair. Intraoperative acidosis was more severe during thoracoscopy when compared with open surgery (OS), though it is possible that later neurodevelopment was not affected...
February 19, 2018: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29458229/primary-closure-versus-bedside-silo-and-delayed-closure-for-gastroschisis-a-truncated-prospective-randomized-trial
#2
Ashwini S Poola, Pablo Aguayo, Jason D Fraser, Richard J Hendrickson, Katrina L Weaver, Katherine W Gonzalez, Shawn D St Peter
BACKGROUND: We report a prospective randomized trial comparing primary closure (PC) to bedside silo and delayed closure (DC) for babies with gastroschisis. METHODS: Patients were randomized to PC versus DC. We excluded those with atresia/necrosis, <34 weeks' gestation, or congenital anomalies. The primary outcome was length of stay (LOS). RESULTS: A total of 38 patients were included from August 2011 to August 2016; 18 patients underwent DC and 20 PC...
February 19, 2018: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29458130/impact-of-rna-polymerase-i-inhibitor-cx-5461-on-viral-kinase-dependent-and-independent-cytomegalovirus-replication
#3
Kristen N Westdorp, Scott S Terhune
Human cytomegalovirus (HCMV) infections cause congenital birth defects and disease in immunosuppressed individuals. Antiviral compounds can control infection yet their use is restricted due to concerns of toxicity and the emergence of drug resistant strains. We have evaluated the impact of an RNA Polymerase I (Pol I) inhibitor, CX-5461 on HCMV replication. CX-5461 inhibits Pol I-mediated ribosomal DNA transcription by binding G-quadruplex DNA structures and also activates cellular stress response pathways. The addition of CX-5461 at both early and late stages of the HCMV infection inhibited viral DNA synthesis and virus production...
February 16, 2018: Antiviral Research
https://www.readbyqxmd.com/read/29457660/prevalence-of-orofacial-clefts-and-risks-for-nonsyndromic-cleft-lip-with-or-without-cleft-palate-in-newborns-at-a-university-hospital-from-west-mexico
#4
Jorge Román Corona-Rivera, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Christian Peña-Padilla, Sandra Olvera-Molina, Miriam A Orozco-Martín, Diana García-Cruz, Izabel M Ríos-Flores, Brian Gabriel Gómez-Rodríguez, Gemma Rivas-Soto, J Jesús Pérez-Molina
We determined the overall prevalence of typical orofacial clefts (OFCs) and the potential risks for nonsyndromic cleft lip with or without palate (NSCL±P) in a University Hospital from west México. For the prevalence, 227 live born infants with typical OFCs were included from a total of 81,193 births occurred during the period 2009 to 2016 at the 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara (Guadalajara, Jalisco, Mexico). To evaluate potential risks, a case-control study was conducted among 420 newborns, including only those 105 patients with NSCL±P (cases), and 315 infants without birth defects (controls)...
February 19, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29457362/a-multinational-observational-investigation-of-illness-perceptions-and-quality-of-life-among-patients-with-a-fontan-circulation
#5
Christina E Holbein, Nicholas D Fogleman, Kevin Hommel, Silke Apers, Jessica Rassart, Philip Moons, Koen Luyckx, Maayke A Sluman, Junko Enomoto, Bengt Johansson, Hsiao-Ling Yang, Mikael Dellborg, Raghavan Subramanyan, Jamie L Jackson, Werner Budts, Adrienne H Kovacs, Stacey Morrison, Martha Tomlin, Kathy Gosney, Alexandra Soufi, Katrine Eriksen, Corina Thomet, Malin Berghammer, Luis Alday, Edward Callus, Susan M Fernandes, Maryanne Caruana, Samuel Menahem, Stephen C Cook, Gwen R Rempel, Kamila White, Paul Khairy, Shelby Kutty, Gruschen Veldtman
OBJECTIVE: First, to compare QOL and illness perceptions between patients with a Fontan circulation and patients with anatomically simple defects (ie, atrial septal defects [ASD] or ventricular septal defects [VSD]). Second, to explore illness perceptions as a mediator of the association between congenital heart disease (CHD) diagnosis and QOL. DESIGN: Cross-sectional observational study. SETTING: Twenty-four cardiology centers from 15 countries across five continents...
February 18, 2018: Congenital Heart Disease
https://www.readbyqxmd.com/read/29456483/two-novel-pathogenic-mid1-variants-and-genotype-phenotype-correlation-reanalysis-in-x-linked-opitz-g-bbb-syndrome
#6
Nuno Maia, Maria J Nabais Sá, Nataliya Tkachenko, Gabriela Soares, Isabel Marques, Bárbara Rodrigues, Ana M Fortuna, Rosário Santos, Arjan P M de Brouwer, Paula Jorge
X-linked Opitz G/BBB syndrome (XLOS) is a multisystemic congenital condition, caused by mutations in the midline-1 gene ( MID1 ), characterized by a large inter- and intrafamilial phenotypic variability and often associated with intellectual disability (ID). We report clinical, genetic, and molecular findings in 4 patients with typical XLOS dysmorphic features belonging to 2 unrelated families. Two novel pathogenic loss-of-function MID1 variants, a maternally inherited c.1656del and a de novo c.1215_1228dup, were identified...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29456481/double-interstitial-deletion-of-the-long-arm-of-chromosome-6-in-a-patient-with-pierre-robin-sequence-dysmorphisms-and-severe-developmental-delay
#7
Giulia Parmeggiani, Stefania Bigoni, Barbara Buldrini, Giampaolo Garani, Luigi Clauser, Manilo Galiè, Alessandra Ferlini, Sergio Fini
Reported here is the case of a 1.8-year-old boy with a 9.6- Mb deletion in 6q13q14.1 and an 11.2-Mb deletion in 6q21q22.31, ascertained through array CGH, as the result of a complex de novo chromosome rearrangement. The clinical picture of this patient is characterized by severe psychomotor delay, dysmorphic features, and some congenital defects. Although, as reported in the literature, phenotypes associated with 6q deletions may vary, an attempt was made to associate the patient's symptoms to either deletion, comparing them to previously reported cases...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29455793/maternal-and-fetal-outcome-in-operated-vs-non-operated-cases-of-congenital-heart-disease-cases-in-pregnancy
#8
Vikas Yadav, J B Sharma, S Mishra, A Kriplani, Neerja Bhatla, Garima Kachhawa, Rajesh Kumari, Karthik, Isha Kriplani
OBJECTIVES: To study pregnancy outcomes in operated vs non-operated cases of congenital heart disease cases during pregnancy. MATERIALS AND METHODS: A total of 55 patients of congenital heart disease who delivered in the authors unit in last 10 years were taken in this retrospective study. These were divided into two groups Group 1:29 (52.7%) patient who had no cardiac surgery and Group 2: 26(47.2%) who had cardiac surgery to correct their cardiac defect before pregnancy...
January 2018: Indian Heart Journal
https://www.readbyqxmd.com/read/29455791/criss-cross-heart-transthoracic-echocardiographic-features
#9
Devi Manuel, Gopal Ghosh, George Joseph, Anandaroop Lahiri, Paul V George
OBJECTIVE: To study the echocardiographic features of criss-cross heart (CCH), a congenital cardiac anomaly characterized by crossed ventricular inflow streams, in Indian patients. METHODS: In this retrospective observational study, all pediatric echocardiograms performed in a single tertiary care institution in South India over a three-year period were scrutinized for a diagnosis of CCH. Demographic, clinical and echocardiographic data were collected from patients' medical records and echocardiographic database...
January 2018: Indian Heart Journal
https://www.readbyqxmd.com/read/29455772/prenatal-diagnosis-of-congenital-heart-disease-a-review-of-current-knowledge
#10
REVIEW
Nathalie Jeanne Bravo-Valenzuela, Alberto Borges Peixoto, Edward Araujo Júnior
This article reviews important features to improve the diagnosis of congenital heart disease (CHD) by applying ultrasound in prenatal cardiac screening. As low and high-risk pregnancies for CHD are subject to routine obstetric ultrasound, the diagnosis of structural heart defects represents a challenge that involves a team of specialists and subspecialists on fetal ultrasonography. In this review, the images highlight normal anatomy of the heart as well as pathologic cases consistent with cardiac malposition and isomerism, septal defects, pulmonary stenosis/atresia, aortic malformations, hypoplastic left ventricle, conotruncal anomalies, tricuspid dysplasia, and Ebstein's anomaly, and univentricular heart, among other congenital cardiovascular defects...
January 2018: Indian Heart Journal
https://www.readbyqxmd.com/read/29452367/variant-in-human-pofut1-reduces-enzymatic-activity-and-likely-causes-a-recessive-microcephaly-global-developmental-delay-with-cardiac-and-vascular-features
#11
Hideyuki Takeuchi, Derek Wong, Michael Schneider, Hudson H Freeze, Megumi Takeuchi, Steven J Berardinelli, Atsuko Ito, Hane Lee, Stanley F Nelson, Robert S Haltiwanger
Protein O-fucosyltransferase-1 (POFUT1) adds O-fucose monosaccharides to epidermal growth factor-like (EGF) repeats found on approximately 100 mammalian proteins, including Notch receptors. Haploinsufficiency of POFUT1 has been linked to adult-onset Dowling Degos Disease (DDD) with hyperpigmentation defects. Homozygous deletion of mouse Pofut1 results in embryonic lethality with severe Notch-like phenotypes including defects in somitogenesis, cardiogenesis, vasculogenesis, and neurogenesis, but the extent to which POFUT1 is required for normal human development is not yet understood...
February 14, 2018: Glycobiology
https://www.readbyqxmd.com/read/29452340/congenital-abnormalities-of-the-male-reproductive-system-and-risk-of-autism-spectrum-disorders
#12
Ran S Rotem, Gabriel Chodick, Michael Davidovitch, Russ Hauser, Brent A Coull, Marc G Weisskopf
Androgens have an extensive influence on brain development in regions of the brain that are relevant for autism spectrum disorder (ASD), yet their etiological involvement remains unclear. Hypospadias (abnormal positioning of the urethral opening) and cryptorchidism (undescended testes) are 2 relatively common male birth defects that are strongly associated with prenatal androgen deficiencies. Having either disorder is a proxy indicator of atypical gestational androgen exposure, yet the association between these disorders and autism has not been extensively studied...
February 14, 2018: American Journal of Epidemiology
https://www.readbyqxmd.com/read/29451301/intu-related-oral-facial-digital-syndrome-type-vi-a-confirmatory-report
#13
A-L Bruel, J Levy, N Elenga, A Defo, A Favre, H Lucron, Y Capri, L Perrin, S Passemard, Y Vial, A-C Tabet, L Faivre, C Thauvin-Robinet, A Verloes
Oral-facial-digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co-occurrence of hamartomas and/or multiple frenula of the oral region and digital anomalies. Several clinical forms of OFD are distinguished by their associated anomalies and/or inheritance patterns, and at least 20 genetic types of OFD have been delineated. We describe here a child with preaxial and postaxial polydactyly, lingual hamartoma, a congenital heart defect, delayed development and cerebellar peduncles displaying the molar tooth sign...
February 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29450859/congenital-adrenal-hyperplasia-cah-due-to-21-hydroxylase-deficiency-a-comprehensive-focus-on-233-pathogenic-variants-of-cyp21a2-gene
#14
REVIEW
Paola Concolino, Alessandra Costella
Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by complete or partial defects in one of the several steroidogenic enzymes involved in the synthesis of cortisol from cholesterol in the adrenal glands. More than 95-99% of all cases of CAH are caused by deficiency of steroid 21-hydroxylase, an enzyme encoded by the CYP21A2 gene. Currently, CYP21A2 genotyping is considered a valuable complement to biochemical investigations in the diagnosis of 21-hydroxylase deficiency...
February 15, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29450103/public-health-failure-in-the-prevention-of-neural-tube-defects-time-to-abandon-the-tolerable-upper-intake-level-of-folate
#15
REVIEW
Nicholas J Wald, Joan K Morris, Colin Blakemore
The neural tube defects anencephaly and spina bifida are two of the most common serious congenital malformations. Most cases can be prevented by consuming sufficient folic acid immediately before pregnancy and in early pregnancy. Fortification of flour with folic acid to prevent these defects has been implemented in 81 countries without public objection or indication of harm. An obstacle to the wider adoption of fortification arises from the creation of a "tolerable upper intake level" for folate (which includes natural food folate as well as synthetic folic acid), and which has been set at 1 mg/day, thereby proscribing higher folate intakes...
2018: Public Health Reviews
https://www.readbyqxmd.com/read/29449639/a-herg-mutation-e1039x-produced-a-synergistic-lesion-on-i-ks-together-with-kcnq1-r174c-mutation-in-a-lqts-family-with-three-compound-mutations
#16
Jie Wu, Yuka Mizusawa, Seiko Ohno, Wei-Guang Ding, Takashi Higaki, Qi Wang, Hirohiko Kohjitani, Takeru Makiyama, Hideki Itoh, Futoshi Toyoda, Andrew F James, Jules C Hancox, Hiroshi Matsuura, Minoru Horie
Congenital long QT syndrome (LQTS) caused by compound mutations is usually associated with more severe clinical phenotypes. We identified a LQTS family harboring three compound mutations in different genes (KCNQ1-R174C, hERG-E1039X and SCN5A-E428K). KCNQ1-R174C, hERG-E1039X and SCN5A-E428K mutations and/or relevant wild-type (WT) cDNAs were respectively expressed in mammalian cells. I Ks -like, I Kr -like, I Na -like currents and the functional interaction between KCNQ1-R174C and hERG-E1039X channels were studied using patch-clamp and immunocytochemistry techniques...
February 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29448010/improved-outcomes-in-management-of-hypoplastic-left-heart-syndrome-associated-with-congenital-diaphragmatic-hernia-an-algorithmic-approach
#17
Kaitlin Balduf, T K Susheel Kumar, Umar Boston, Shyam Sathanandam, Marc V Lee, Tim Jancelewicz, Christopher J Knott-Craig
BACKGROUND: Hypoplastic left heart syndrome (HLHS) is the second most common congenital heart disease associated with congenital diaphragmatic hernia (CDH). The reported survival of neonates with CDH and HLHS is only 1-5%. We review our experience with CDH and HLHS and compare our outcomes to published literature. METHODS: Retrospective review of all neonates with CDH and HLHS at our institution over a 10 year period was performed. The morphology of cardiac and diaphragm defects, clinical course, treatment strategies and outcomes were reviewed and an algorithmic approach is proposed...
February 12, 2018: Seminars in Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29446982/development-of-an-omentum-cultured-oesophageal-scaffold-reinforced-by-a-3d-printed-ring-feasibility-of-an-in-vivo-bioreactor
#18
Eun-Jae Chung, Hyung Woo Ju, Yeung Kyu Yeon, Ji Seung Lee, Young Jin Lee, Ye Been Seo, Park Chan Hum
Current treatments of oesophageal diseases, such as carcinoma, congenital abnormality or trauma, require surgical intervention and oesophageal reconstruction with the stomach, jejunum or colon. However, serious side effects are possible with each treatment option. Despite tissue engineering promising to be an effective regenerative strategy, no functional solution currently exists for oesophageal reconstruction. Here, we developed an omentum-cultured oesophageal scaffold reinforced by a 3D-printed ring. The nano-structured scaffolds were wrapped into the omentum of rats and orthotopically transplanted for the repair of circumferential oesophageal defects two weeks later...
February 15, 2018: Artificial Cells, Nanomedicine, and Biotechnology
https://www.readbyqxmd.com/read/29445263/noncompaction-cardiomyopathy-and-heterotaxy-syndrome
#19
Hugo R Martinez, Stephanie M Ware, Marcus S Schamberger, John J Parent
Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by compact and trabecular layers of the left ventricular myocardium. This cardiomyopathy may occur with congenital heart disease (CHD). Single cases document co-occurrence of LVNC and heterotaxy, but no data exist regarding the prevalence of this association. This study sought to determine whether a non-random association of LVNC and heterotaxy exists by evaluating the prevalence of LVNC in patients with heterotaxy. In a retrospective review of the Indiana Network for Patient Care, we identified 172 patients with heterotaxy (69 male, 103 female)...
September 2017: Progress in Pediatric Cardiology
https://www.readbyqxmd.com/read/29445153/development-of-a-chimeric-zika-vaccine-using-a-licensed-live-attenuated-flavivirus-vaccine-as-backbone
#20
Xiao-Feng Li, Hao-Long Dong, Hong-Jiang Wang, Xing-Yao Huang, Ye-Feng Qiu, Xue Ji, Qing Ye, Chunfeng Li, Yang Liu, Yong-Qiang Deng, Tao Jiang, Gong Cheng, Fu-Chun Zhang, Andrew D Davidson, Ya-Jun Song, Pei-Yong Shi, Cheng-Feng Qin
The global spread of Zika virus (ZIKV) and its unexpected association with congenital defects necessitates the rapid development of a safe and effective vaccine. Here we report the development and characterization of a recombinant chimeric ZIKV vaccine candidate (termed ChinZIKV) that expresses the prM-E proteins of ZIKV using the licensed Japanese encephalitis live-attenuated vaccine SA14-14-2 as the genetic backbone. ChinZIKV retains its replication activity and genetic stability in vitro, while exhibiting an attenuation phenotype in multiple animal models...
February 14, 2018: Nature Communications
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