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https://www.readbyqxmd.com/read/28535430/dilated-azygos-arch-mimicking-an-aortic-arch-anomaly-during-thoracic-surgery
#1
Ingrid Anne Mandy Schierz, Ettore Piro, Mario Giuffrè, Giuseppa Pinello, Giovanni Corsello
Cardiovascular malformations are frequently associated in patients with esophageal atresia (EA). We observed azygos continuation mimicking an aortic arch anomaly in four newborns with type III EA. They presented concomitant rib anomalies indicating a common developmental defect. Foreknowledge is important for planning thoracotomy or interventional cardiac catheterization in this population.
May 20, 2017: Early Human Development
https://www.readbyqxmd.com/read/28535364/dental-decay-phenotype-in-nonsyndromic-orofacial-clefting
#2
B J Howe, M E Cooper, G L Wehby, J M Resick, N L Nidey, L C Valencia-Ramirez, A M Lopez-Palacio, D Rivera, A R Vieira, S M Weinberg, M L Marazita, L M Moreno Uribe
Although children with oral clefts have a higher risk for dental anomalies when compared with the general population, prior studies have shown conflicting results regarding their dental decay risk. Also, few studies have assessed dental decay risk in unaffected relatives of children with clefts. Thus, the question of increased risk of dental decay in individuals with oral clefts or their unaffected relatives is still open for empirical investigation. This study characterizes dental decay in the largest international cohort to date of children with nonsyndromic clefts and their relatives, as compared with controls, and it addresses whether families with oral clefts have a significantly increased risk for dental decay versus the general population...
May 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28534929/teratogens-a-public-health-issue-a-brazilian-overview
#3
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/28534501/electronic-evidence-of-temperature-induced-lifshitz-transition-and-topological-nature-in-zrte5
#4
Yan Zhang, Chenlu Wang, Li Yu, Guodong Liu, Aiji Liang, Jianwei Huang, Simin Nie, Xuan Sun, Yuxiao Zhang, Bing Shen, Jing Liu, Hongming Weng, Lingxiao Zhao, Genfu Chen, Xiaowen Jia, Cheng Hu, Ying Ding, Wenjuan Zhao, Qiang Gao, Cong Li, Shaolong He, Lin Zhao, Fengfeng Zhang, Shenjin Zhang, Feng Yang, Zhimin Wang, Qinjun Peng, Xi Dai, Zhong Fang, Zuyan Xu, Chuangtian Chen, X J Zhou
The topological materials have attracted much attention for their unique electronic structure and peculiar physical properties. ZrTe5 has host a long-standing puzzle on its anomalous transport properties manifested by its unusual resistivity peak and the reversal of the charge carrier type. It is also predicted that single-layer ZrTe5 is a two-dimensional topological insulator and there is possibly a topological phase transition in bulk ZrTe5. Here we report high-resolution laser-based angle-resolved photoemission measurements on the electronic structure and its detailed temperature evolution of ZrTe5...
May 23, 2017: Nature Communications
https://www.readbyqxmd.com/read/28534488/observed-variations-in-u-s-frost-timing-linked-to-atmospheric-circulation-patterns
#5
Courtenay Strong, Gregory J McCabe
Several studies document lengthening of the frost-free season within the conterminous United States (U.S.) over the past century, and report trends in spring and fall frost timing that could stem from hemispheric warming. In the absence of warming, theory and case studies link anomalous frost timing to atmospheric circulation anomalies. However, recent efforts to relate a century of observed changes in U.S. frost timing to various atmospheric circulations yielded only modest correlations, leaving the relative importance of circulation and warming unclear...
May 23, 2017: Nature Communications
https://www.readbyqxmd.com/read/28534241/a-genetic-variant-in-fign-gene-reduces-the-risk-of-congenital-heart-disease-in-han-chinese-populations
#6
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/28534125/salivary-glands-abnormalities-in-oculo-auriculo-vertebral-spectrum
#7
Davide Brotto, Renzo Manara, Stefania Vio, Sara Ghiselli, Elena Cantone, Rodica Mardari, Irene Toldo, Valentina Stritoni, Alessandro Castiglione, Elisa Lovo, Patrizia Trevisi, Roberto Bovo, Alessandro Martini
BACKGROUND: Feeding and swallowing impairment are present in up to 80% of oculo-auriculo-vertebral spectrum (OAVS) patients. Salivary gland abnormalities have been reported in OAVS patients but their rate, features, and relationship with phenotype severity have yet to be defined. MATERIAL AND METHODS: Parotid and submandibular salivary gland hypo/aplasia was evaluated on head MRI of 25 OAVS patients (16 with severe phenotype, Goldenhar syndrome) and 11 controls...
May 22, 2017: Clinical Oral Investigations
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
#8
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/28533943/etiology-and-treatment-of-amyotrophic-lateral-sclerosis
#9
Hernando Rafael, Juan Oscar David, Antonio Santiago Vilca
BACKGROUND: To date all researchers conclude that the etiology of Amyotrophic lateral sclerosis (ALS) is not known. On the contrary, since August 2009, we believe that disease is of ischemic origin in the anterior surface of the medulla oblongata. MATERIAL AND METHOD: We present our surgical experience into 45 patients with ALS (bulbar form in 36 cases and spinal form in 9). Preoperative MRI scans revealed microinfarcts in the medulla oblongata and/or cervical cord...
2017: American Journal of Neurodegenerative Disease
https://www.readbyqxmd.com/read/28533581/bicuspid-aortic-valve-an-unusual-cause-of-aneurysm-of-left-coronary-sinus-of-valsalva
#10
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/28533562/accelerating-tropicalization-and-the-transformation-of-temperate-seagrass-meadows
#11
Glenn A Hyndes, Kenneth L Heck, Adriana Vergés, Euan S Harvey, Gary A Kendrick, Paul S Lavery, Kathryn McMahon, Robert J Orth, Alan Pearce, Mathew Vanderklift, Thomas Wernberg, Scott Whiting, Shaun Wilson
Climate-driven changes are altering production and functioning of biotic assemblages in terrestrial and aquatic environments. In temperate coastal waters, rising sea temperatures, warm water anomalies and poleward shifts in the distribution of tropical herbivores have had a detrimental effect on algal forests. We develop generalized scenarios of this form of tropicalization and its potential effects on the structure and functioning of globally significant and threatened seagrass ecosystems, through poleward shifts in tropical seagrasses and herbivores...
November 1, 2016: Bioscience
https://www.readbyqxmd.com/read/28533154/preconception-and-prenatal-genetic-counselling
#12
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
#13
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
#14
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/28531966/how-do-disturbances-and-climate-effects-on-carbon-and-water-fluxes-differ-between-multi-aged-and-even-aged-coniferous-forests
#15
Xuguang Tang, Hengpeng Li, Mingguo Ma, Li Yao, Matthias Peichl, Altaf Arain, Xibao Xu, Michael Goulden
Disturbances and climatic changes significantly affect forest ecosystem productivity, water use efficiency (WUE) and carbon (C) flux dynamics. A deep understanding of terrestrial feedbacks to such effects and recovery mechanisms in forests across contrasting climatic regimes is essential to predict future regional/global C and water budgets, which are also closely related to the potential forest management decisions. However, the resilience of multi-aged and even-aged forests to disturbances has been debated for >60years because of technical measurement constraints...
May 18, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28531943/recent-trends-in-zikv-research-a-step-away-from-cure
#16
REVIEW
Aftab Alam, Nikhat Imam, Anam Farooqui, Shahnawaz Ali, Md Zubbair Malik, Romana Ishrat
Zika virus (ZikV) is a member of the Flaviviridae virus family, genus Flavivirus has emerged as a potential threat to human health worldwide. Consequences of vertical infections includes microcephaly with brain and eye anomalies, and adult infections includes Guillain-Barrésyndrome (GBS), brain ischemia, myelitis and meningoencephalitis. To develop a better treatment, many efforts are being made, like drug-repurposing concept for FDA-approved drugs for antiviral activity are screened against ZikV infection and emerging as a promising alternative to expedite drug development and various vaccines like DNA, ZPIV, LAIV, mRNA and AGS-v vaccines have been designed and in under clinical trial phases...
May 17, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28531808/prenatal-diagnosis-of-biliary-atresia-a-case-series
#17
O Shen, H Y Sela, H Nagar, R Rabinowitz, E Jacobovich, D Chen, E Granot
BACKGROUND: Biliary atresia is a progressive disease presenting with jaundice, and is the most common indication for liver transplantation in the pediatric population. Prenatal series have yielded conflicting results concerning a possible association between BA and prenatal nonvisualization of the gallbladder. AIMS: This retrospective case series was performed to assess the association between biliary atresia, prenatal nonvisualization of the gallbladder and other sonographic signs...
May 19, 2017: Early Human Development
https://www.readbyqxmd.com/read/28530660/endoglin-prevents-vascular-malformation-by-regulating-flow-induced-cell-migration-and-specification-through-vegfr2-signalling
#18
Yi Jin, Lars Muhl, Mikhail Burmakin, Yixin Wang, Anne-Claire Duchez, Christer Betsholtz, Helen M Arthur, Lars Jakobsson
Loss-of-function (LOF) mutations in the endothelial cell (EC)-enriched gene endoglin (ENG) cause the human disease hereditary haemorrhagic telangiectasia-1, characterized by vascular malformations promoted by vascular endothelial growth factor A (VEGFA). How ENG deficiency alters EC behaviour to trigger these anomalies is not understood. Mosaic ENG deletion in the postnatal mouse rendered Eng LOF ECs insensitive to flow-mediated venous to arterial migration. Eng LOF ECs retained within arterioles acquired venous characteristics and secondary ENG-independent proliferation resulting in arteriovenous malformation (AVM)...
May 22, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28529681/imaging-spectrum-of-spinal-dysraphism-on-magnetic-resonance-a-pictorial-review
#19
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
#20
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
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