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https://www.readbyqxmd.com/read/28534929/teratogens-a-public-health-issue-a-brazilian-overview
#1
Thiago Mazzu-Nascimento, Débora Gusmão Melo, Giorgio Gianini Morbioli, Emanuel Carrilho, Fernanda Sales Luiz Vianna, André Anjos da Silva, Lavinia Schuler-Faccini
Congenital anomalies are already the second cause of infant mortality in Brazil, as in many other middle-income countries in Latin America. Birth defects are a result of both genetic and environmental factors, but a multifactorial etiology has been more frequently observed. Here, we address the environmental causes of birth defects - or teratogens - as a public health issue and present their mechanisms of action, categories and their respective maternal-fetal deleterious effects. We also present a survey from 2008 to 2013 of Brazilian cases involving congenital anomalies (annual average of 20,205), fetal deaths (annual average of 1,530), infant hospitalizations (annual average of 82,452), number of deaths of hospitalized infants (annual average of 2,175), and the average cost of hospitalizations (annual cost of $7,758)...
May 22, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28534241/a-genetic-variant-in-fign-gene-reduces-the-risk-of-congenital-heart-disease-in-han-chinese-populations
#2
Dan Wang, Maoping Chu, Feng Wang, Aihua Zhou, Miaohua Ruan, Yiming Chen
Congenital heart disease (CHD) is one of the most common birth anomalies worldwide. Folate deficiency is an independent risk factor for CHD. Genome-wide association studies (GWAS) revealed that human folate level could be significantly influenced by fidgetin (FIGN), methylenetetrahydrofolate reductase (MTHFR), prickle homolog 2 (PRICKLE2), synaptotagmin 9 (SYT9), gamma-aminobutyric acid B receptor 2 (GABBR2), and alkaline phosphatase (ALPL) genes. The association between the above-mentioned six variants and CHD was examined in the two independent case-control studies in a total of 868 CHD patients and 931 healthy controls...
May 22, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28533990/anomalous-origin-of-right-coronary-artery-originating-from-the-pulmonary-trunk-arcapa-an-incidental-finding-in-a-patient-presenting-with-chest-pain
#3
Pragathi Balakrishna, Michael Illovsky, Youssef M Al-Saghir, Abdul M Minhas
Anomalous origin of the right coronary artery originating from the pulmonary trunk (ARCAPA) is a rare congenital coronary anomaly with an estimated prevalence of 0.002%. Most patients are asymptomatic and the anomaly is detected incidentally during evaluation for other problems. Occasionally, ARCAPA may lead to myocardial ischemia and/or sudden cardiac arrest. We present a case of a 55-year-old female with a history of hypertension who presented to the emergency department with intermittent chest discomfort for three days...
April 17, 2017: Curēus
https://www.readbyqxmd.com/read/28533581/bicuspid-aortic-valve-an-unusual-cause-of-aneurysm-of-left-coronary-sinus-of-valsalva
#4
Euden Bhutia, Dinesh Kumar, Binoy Shankar, Shakti Pad Das, Sunil Kishore
Bicuspid aortic valve is traditionally considered an innocuous congenital anomaly. Due to a better and widespread availability of non-invasive imaging techniques, it has come to the fore that 30% of these cases develop complications, viz., valve abnormality (aortic regurgitation and stenosis), and aneurysm of aortic root and ascending aorta. Sinus of Valsalva aneurysm is an uncommon complication of bicuspid aortic valve and more so those arising from the left coronary sinus are the rarest. These complications generally occur in the third or fourth decade of life...
May 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28533154/preconception-and-prenatal-genetic-counselling
#5
REVIEW
Adonis S Ioannides
Identifying individuals at risk of having children affected by genetic conditions or congenital anomalies allows counselling that aims to inform reproductive decisions. This process takes place either at the preconception or early prenatal stage, although more options are available if risks are identified before the pregnancy. Preconception counselling covers issues that can affect the health of the mother and baby including folic acid supplementation. Carrier screening for autosomal recessive diseases, such as beta thalassaemia, has resulted in a significantly reduced incidence in many countries...
April 21, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28532774/genotype-positive-long-qt-syndrome-in-patients-with-coexisting-congenital-heart-disease
#6
Mohammed A Ebrahim, Matthew R Williams, Suzanne Shepard, James C Perry
Congenital long QT syndrome (LQTS) is characterized by QT prolongation with predisposition to life-threatening arrhythmia. There have been sporadic reports of LQTS coexisting with more common forms of congenital heart disease (CHD). However, the diagnosis of LQTS when CHD is present may be confounded by several common variables including postoperative electromechanical factors predisposing to ventricular arrhythmia, intrinsic, and postoperative QRS abnormalities. This report documents a single-center experience with patients who have both genetically confirmed LQTS and CHD to examine their modes of presentation and factors associated with making the diagnosis of LQTS in this patient population, as well as potential confounding variables that may mask or delay both LQTS diagnosis and initiation of therapy...
April 27, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28532280/trends-and-characteristics-of-fetal-and-neonatal-mortality-due-to-congenital-anomalies-colombia-1999-2008
#7
Claudia Patricia Roncancio, Sandra Patricia Misnaza, Isabel Cristina Peña, Franklyn Edwin Prieto, Michael J Cannon, Diana Valencia
OBJECTIVE: To describe fetal and neonatal mortality due to congenital anomalies in Colombia. METHODS: We analyzed all fetal and neonatal deaths due to a congenital anomaly registered with the Colombian vital statistics system during 1999-2008. RESULTS: The registry included 213,293 fetal deaths and 7,216,727 live births. Of the live births, 77,738 (1.08%) resulted in neonatal deaths. Congenital anomalies were responsible for 7321 fetal deaths (3...
May 22, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28529681/imaging-spectrum-of-spinal-dysraphism-on-magnetic-resonance-a-pictorial-review
#8
REVIEW
Jyoti Kumar, Muhammed Afsal, Anju Garg
Congenital malformations of spine and spinal cord are collectively termed as spinal dysraphism. It includes a heterogeneous group of anomalies which result from faulty closure of midline structures during development. Magnetic resonance imaging (MRI) is now considered the imaging modality of choice for diagnosing these conditions. The purpose of this article is to review the normal development of spinal cord and spine and reviewing the MRI features of spinal dysraphism. Although imaging of spinal dysraphism is complicated, a systematic approach and correlation between neuro-radiological, clinical and developmental data helps in making the correct diagnosis...
April 28, 2017: World Journal of Radiology
https://www.readbyqxmd.com/read/28529272/congenital-anterior-staphyloma-associated-with-peters-anomaly-and-aphakia-in-a-holstein-calf
#9
Reiichiro Sato, Ken Onda, Masaru Murakami, Daiya Ito, Hiroo Madarame
A Holstein calf was born with a large protruding right eye and a central corneal opacity. Enucleation was the first choice of treatment. The calf had a good prognosis and was raised for milking purposes. Macroscopically, the enucleated eye was characterized by the protruded cornea, adherence of the iris to the central posterior cornea and aphakia. Microscopically, central corneal thickening and a defect in the endothelium and Descemet's membrane were observed. These data suggest that this represents a case of unilateral anterior segment dysgenesis consistent with congenital corneal staphyloma with Peters' anomaly and aphakia...
May 22, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28528714/the-use-of-stomas-in-the-early-management-of-hirschsprung-s-disease-findings-of-a-national-prospective-cohort-study
#10
T J Bradnock, M Knight, S Kenny, M Nair, G M Walker
BACKGROUND/PURPOSE: Primary pull-through without a stoma has become preferred practice in managing Hirschsprung's disease (HD). The aims of this study were to establish stoma rate and identify factors associated with stoma formation in a population-based cohort in the UK and Ireland. METHODS: Live-born infants with HD were prospectively identified in all 28 specialist pediatric surgical units in the UK and Ireland between October 2010 to September 2012. Method of colonic decompression was recorded and multivariable logistic regression was used to identify factors associated with stoma formation...
May 11, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28528534/a-case-of-diprosopiasis-in-trachemys-scripta-scripta
#11
Giovanni Lanteri, Francesco Macri, Annamaria Passantino, Vincenzo Monteverde, Fabio Marino, Giuseppe Mazzullo
This short communication describes a case of diprosopiasis in Trachemys scripta scripta imported from Florida (USA) and farmed for about 4 months by a private owner in Palermo, Sicily, Italy. The water turtle showed the morphological and radiological features characterizing such deformity. This communication aims to advance the knowledge of the reptile's congenital anomalies and suggests the need for more detailed investigations to better understand its pathogenesis.
April 5, 2017: Veterinaria Italiana
https://www.readbyqxmd.com/read/28528186/the-pouch-of-the-douglas-s-pouch
#12
I Sall, E Diémé, M Diallo, E Bénadji, M Diouf, B Ndiaye, O Fall, A Sow, I C Diakhaté, M Ogougbémy
Hernia is described as the protrusion of an organ into the wall of its normal containing cavity. Internal hernia (IH) involves protrusion of viscera through: a peritoneal or mesentery defect, a normal or abnormal compartment of the peritoneal cavity. Hernias occurring in the pelvis cavity are usually classified according to the fascial margins breached and include sciatic, obturator and those through the rectouterin pouch: elytrocele and enterocele. Those hernias are defined by the protrusion of a viscus through the wall of the pelvis due to weakness of the pelvic fascia and/or muscles...
May 17, 2017: Morphologie: Bulletin de L'Association des Anatomistes
https://www.readbyqxmd.com/read/28528013/congenital-h-type-tracheoesophageal-fistula-a-multicenter-review-of-outcomes-in-a-rare-disease
#13
Sara C Fallon, Jacob C Langer, Shawn D St Peter, KuoJen Tsao, Caroline M Kellagher, Dave R Lal, Jill S Whitehouse, Diana L Diesen, Michael D Rollins, Elizabeth Pontarelli, Marcus M Malek, Corey W Iqbal, Jeffrey S Upperman, Charles M Leys, Mark L Wulkan, Sarah J Hill, Martin L Blakely, Timothy D Kane, David E Wesson
OBJECTIVE: To perform a multicenter review of outcomes in patients with H-type tracheoesophageal fistula (TEF) in order to better understand the incidence and causes of post-operative complications. BACKGROUND: H-type TEF without esophageal atresia (EA) is a rare anomaly with a fundamentally different management algorithm than the more common types of EA/TEF. Outcomes after surgical treatment of H-type TEF are largely unknown, but many authoritative textbooks describe a high incidence of respiratory complications...
May 11, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28524149/-morphological-features-of-clinical-manifestations-of-particular-congenital-lens-and-vitreous-anomalies
#14
S I Kharlap, A R Salikhova, K S Avetisov, S Е Avetisov
The review covers general clinical features of particular congenital anomalies of the human eye associated with its abnormal embryonic development. Principal literature sources on evaluation of congenital changes in the vitreous body and identification of its 'underdevelopment' in certain types of congenital cataracts have been studied. The said changes were analyzed with account to general pathology of the human body as well as local morphological manifestations. Covered is the time period from the end of the XIX century to the present...
2017: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/28518124/direct-re-implantation-of-left-coronary-artery-into-the-aorta-in-adults-with-anomalous-origin-of-left-coronary-artery-from-the-pulmonary-artery-alcapa
#15
Reza Tavakoli, Peiman Jamshidi, Nassrin Yamani, Max Gassmann
Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital anomaly which is one of leading causes of myocardial ischemia and infarction in children. If left untreated, it results in a 90% mortality rate in the first year of life. In patients who survive to the adulthood, the coronary steal phenomenon and retrograde left-sided coronary flow provide a substrate for chronic subendocardial ischemia, which may lead to left ventricular dysfunction, ischemic mitral regurgitation, malignant ventricular arrhythmias, and sudden cardiac death...
April 24, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28516453/dba-2j-mouse-model-for-experimental-glaucoma-pitfalls-and-problems
#16
Anita J Turner, Roshana Vander Wall, Vivek Gupta, Alex Klistorner, Stuart L Graham
PURPOSE: The DBA/2J mouse has been described as a model for congenital experimental glaucoma. It develops anterior segment anomalies with synechiae and pigment dispersion leading to raised intraocular pressure (IOP) and glaucomatous damage. However there are serious practical considerations when using this model in longitudinal studies. METHODS: We followed 118 mice from 12 - 48 weeks of age in a pharmaceutical trial. Here we report on the findings in control animals (n=37)...
May 18, 2017: Clinical & Experimental Ophthalmology
https://www.readbyqxmd.com/read/28516216/the-role-of-intrauterine-magnetic-resonance-in-the-management-of-myelomenigocele
#17
Denise Trigubo, Mercedes Negri, Rosana Mabel Salvatico, Gustavo Leguizamón
OBJECTIVE: To assess the role of magnetic resonance imaging (MRI) in the management of myelomenigocele. BACKGROUND: Spinal dysraphism or neural tube defects (NTD) encompass a heterogeneous group of congenital spinal anomalies that result from the defective closure of the neural tube early in gestation. Myelomeningocele is the most common type of NTD that is compatible with life, with high survival rates but lifelong physical impairments. CONCLUSION: MRI is an important adjunct to ultrasound in assessing NTD, as it pertains to pre-surgical planning and perinatal management...
May 17, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28515755/common-origin-of-all-three-coronary-arteries-from-the-right-sinus-of-valsalva-first-case-study-accompanied-by-mitral-valve-prolapse-and-vein-anomaly-second-case-study-followed-by-successful-percutaneous-coronary-intervention-of-right-coronary-artery-stenosis
#18
Brygida Przywara-Chowaniec, Agata Puzio, Łukasz Czarnecki, Damian Kawecki, Jan Głowacki, Ewa Nowalany-Kozielska, Aleksandra Czarnecka
Congenital anomalies of the coronary arteries can be divided into two broad categories: those that alter myocardial perfusion and those that do not. In coronary anomalies not altering myocardial perfusion, the coronary arteries originate from the aorta, but their origins are in unusual positions. Although myocardial perfusion is normal, the angiographer may have trouble locating them. Patients with an anomalous left main coronary artery arising from the right sinus of Valsalva are presented. The diagnosis was made by coronary angiography, transesophageal echocardiography and multislice computed tomography (MSCT)...
March 2017: Kardiochirurgia i Torakochirurgia Polska, Polish Journal of Cardio-Thoracic Surgery
https://www.readbyqxmd.com/read/28515611/malposition-of-the-central-venous-catheter-a-diagnostic-dilemma
#19
Sameer N Desai, Santosh K Dasar, V Mithali
A 50-year-old male was admitted to Intensive Care Unit with head and chest injury needed multiple central venous catheter (CVC) for the long-term intravenous access. Right internal jugular vein was cannulated uneventfully, and the tip of CVC was confirmed in the chest radiograph along the right border of the mediastinum. After few days, left subclavian vein was cannulated and the procedure was uneventful. However, the postprocedure Chest X-ray showed the CVC along the left border of mediastinum rather than the right border...
April 2017: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/28514228/outcomes-for-2-children-after-peripartum-acquisition-of-zika-virus-infection-french-polynesia-2013-2014
#20
Marianne Besnard, Timothée Dub, Patrick Gérardin
Congenital Zika virus infection is associated with severe brain anomalies and impaired function. To determine outcomes, we followed 2 affected children for ≈30 months. For 1 who was symptomatic at birth, transient hepatitis developed. However, neurodevelopment for both children was age appropriate.
August 17, 2017: Emerging Infectious Diseases
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