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congenital anomalies

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https://www.readbyqxmd.com/read/29148628/clinical-significance-of-st-depression-at-exercise-stress-testing-in-competitive-athletes-usefulness-of-coronary-ct-during-screening
#1
Fabio Sperandii, Emanuele Guerra, Eliana Tranchita, Carlo Minganti, Chiara Lanzillo, Antonia Nigro, Federico Quaranta, Attilio Parisi, Mauro DI Roma, Luciano Maresca, Federica Fagnani, Leonardo Calò
BACKGROUND: Congenital coronary anomalies (CCAs) and coronary artery disease (CAD) arouse intense scientific and clinical interest in sports medicine and sports cardiology medical communities because of their potential to trigger sudden cardiac death (SCD) in athletes. Exercise stress testing represent the first instrumental assessment to evaluate electrocardiographic changes during effort. Coronary computed tomography angiography (CCTA) is an advanced accurate noninvasive imaging modality for excluding CAD and abnormalities of origin and course of coronary vessels...
November 17, 2017: Journal of Sports Medicine and Physical Fitness
https://www.readbyqxmd.com/read/29148606/severe-subvalvular-pulmonic-stenosis-due-to-a-ball-shaped-accessory-tissue-in-an-asymptomatic-woman-with-congenitally-corrected-transposition-of-great-arteries-and-mesocardia-a-rare-case-report
#2
Maryam Nabati, Mozhdeh Dabirian
Congenitally corrected transposition of great arteries (CCTGA) is a rare anomaly described by atrioventricular and ventriculoarterial discordance. On the other hand, mesocardia that is extremely rare includes two relatively well-defined apexes defined by each ventricle with the major axis of the heart lies in the midline. We describe a rare case of an asymptomatic 20-year-old woman with mesocardia, CCTGA, and severe subvalvular pulmonic stenosis due to a ball-shaped accessory tissue in left ventricular outflow tract...
November 17, 2017: Echocardiography
https://www.readbyqxmd.com/read/29145248/esophageal-duplication-cyst-with-hemivertebrae-a-case-report-and-literature-review
#3
Yanfang Liu, Ling Zhou, Shuixue Li, Jun He, Abudusaimi, Kai Li, Aziguli, Haixia Yao
BACKGROUND: Esophageal duplication cysts (EDCs) are rare congenital anomalies that can be associated with symptomatic spinal abnormalities, but presentations due to EDC symptoms are rarely found in the presence of spinal abnormalities. CASE SUMMARY: A 6-month-old infant weighing approximately 5.0 kg presented with a 2-month pulmonary infection and more recent difficulty swallowing and nutritional intolerance that did not improve with medical treatment. Contrast-enhanced chest computed tomography showed a well-defined, mediastinal, homogeneous, low-density cystic mass of 11...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29142813/aortopulmonary-window-with-crisscross-pulmonary-arteries-anatomically-type-1-physiologically-type-2
#4
Neeraj Awasthy, S Ahmad Jawid
Aortopulmonary window (APW) is a rare congenital anomaly. We report an association of APW with crisscross pulmonary arteries (hitherto unreported) in a 6-month-old child. There was differential flow to the right pulmonary artery was evident by the chest X-ray. We discuss the pathophysiology of the differential pulmonary blood flow in a case of APW.
October 2017: Journal of Cardiovascular Echography
https://www.readbyqxmd.com/read/29142763/array-characterization-of-prenatally-diagnosed-15q26-microdeletion-and-2q37-1-duplication-report-of-a-new-case-with-multicystic-kidneys-and-review-of-the-literature
#5
Molka Kammoun, Wafa Slimani, Hanene Hannachi, Mohamed Bibi, Ali Saad, Soumaya Mougou-Zerelli
We report on a molecular cytogenetic characterization of 15q26 deletion and 2q37.1 duplication in a fetus presenting with intrauterine growth restriction (IUGR), diaphragmatic hernia, multicystic kidneys, left kidney pyelectasis, and clubfeet. A terminal 15q26 deletion and a terminal 2q duplication of at least 10 and 9 Mb, respectively, derived from a maternal translocation, were found. The 15q26 deletion represents a contiguous gene deletion syndrome mainly characterized by IUGR, congenital diaphragmatic hernia, and less frequently kidney defects...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29140935/cerebral-infarction-and-refractory-seizures-in-a-neonate-with-suspected-zika-virus-infection
#6
Adam Raymond, Jonathan Jakus
Congenital Zika syndrome is a set of congenital anomalies associated with Zika virus infection during pregnancy. We present the unique case of a neonate born to a suspected Zika virus positive mother that developed an embolic stroke and medication resistant seizures. This report may impact the evolving definition of congenital Zika syndrome.
November 14, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/29140751/further-delineation-of-the-oculoauricular-syndrome-phenotype-a-new-family-with-a-novel-truncating-hmx1-mutation
#7
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Mennat I Mehrez, Ahmad M Kamal, Mohamed B Taher, Hanan H Afifi
Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the combination of eye and ear anomalies. We identified a new family bringing to three the total families reported with this disorder. Our proband presented with anteriorly protruded ears and malformed ear pinnae in association with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata. Additionally, he had high and broad forehead with asymmetry giving a recognizable facial gestalt...
November 15, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29140750/postlicensure-safety-surveillance-of-congenital-anomaly-and-miscarriage-among-pregnancies-exposed-to-quadrivalent-human-papillomavirus-vaccine
#8
Lina S Sy, Kristin I Meyer, Nicola P Klein, Chun Chao, Christine Velicer, T Craig Cheetham, Bradley K Ackerson, Jeff M Slezak, Harpreet S Takhar, John Hansen, Kamala Deosaransingh, Kai-Li Liaw, Steven J Jacobsen
Limited safety data are available on inadvertent exposure to quadrivalent human papillomavirus vaccine (4vHPV) during pregnancy. We conducted a descriptive observational postlicensure safety surveillance study in Kaiser Permanente Southern California and Northern California to assess congenital anomaly and miscarriage among pregnancies exposed to 4vHPV. Using electronic medical records, we identified women who received a dose of 4vHPV between August 2006 and March 2008 within 30 days preconception or any time during a possible pregnancy...
November 15, 2017: Human Vaccines & Immunotherapeutics
https://www.readbyqxmd.com/read/29137093/an-incidental-encounter-of-a-rare-high-take-off-right-coronary-artery-a-case-report
#9
Xicheng Deng, Peng Huang, Wenjuan Chen, Xiaohui Yang, Qianjun Liu, Yunbin Xiao, Cheng He
RATIONALE: High take-off of the coronary arteries is a rare cardiac anatomic anomaly, which may occur independently or with other congenital heart defects. In the clinical setting, it is noteworthy as a cause of sudden cardiac death. Further, it is vital to identify such anomalies to avoid intraoperative catastrophes in surgeries for congenital heart defects. PATIENT CONCERNS: A II/6 systolic heart murmur on physical examination was incidentally found in a 9-year-old boy; he was confirmed to have a secundum-type atrial septal defect on echocardiography...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29137034/uniparental-disomy-and-prenatal-phenotype-two-case-reports-and-review
#10
Xiaofei Li, Yan Liu, Song Yue, Li Wang, Tiejuan Zhang, Cuixia Guo, Wenjie Hu, Karl-Oliver Kagan, Qingqing Wu
RATIONALE: Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. PATIENT CONCERNS: We report prenatal phenotypes of 2 rare cases of UPD. DIAGNOSES: The prenatal phenotype of case 1 included sonographic markers such as enlarged nuchal translucency (NT), absent nasal bone, short femur and humerus length, and several structural malformations involving Dandy-Walker malformation and congenital heart defects...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29136563/generation-of-human-ipsc-line-from-a-patient-with-laterality-defects-and-associated-congenital-heart-anomalies-carrying-a-dand5-missense-alteration
#11
Fernando Cristo, José M Inácio, Graça Rosas, Isabel Marques Carreira, Joana Barbosa Melo, Luís Pereira de Almeida, Patrícia Mendes, Duarte Saraiva Martins, José Maio, Rui Anjos, José A Belo
A human iPSC line was generated from exfoliated renal epithelial (ERE) cells of a patient affected with Congenital Heart Disease (CHD) and Laterality Defects carrying tshe variant p.R152H in the DAND5 gene. The transgene-free iPSCs were generated with the human OSKM transcription factor using the Sendai-virus reprogramming system. The established iPSC line had the specific heterozygous alteration, a stable karyotype, expressed pluripotency markers and generated embryoid bodies that can differentiate towards the three germ layers in vitro...
October 31, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29136349/clinical-delineation-of-a-subtype-of-frontonasal-dysplasia-with-creased-nasal-ridge-and-upper-limb-anomalies-report-of-six-unrelated-patients
#12
Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Eric Arnaud, Patricia Blanchet, Jong-Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin-Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Laurence Faivre
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29135270/-effectiveness-of-prenatal-ultrasound-in-fetal-and-neonatal-malformations-and-examination-of-difficulty-and-uncertainty-factors
#13
Fanni Rebeka Erős, Artúr Beke
INTRODUCTION AND AIM: The birth prevalence of congenital malformations is around 2-3%. The aim of this study was to examine the efficacy of ultrasound diagnostics in detecting congenital malformations. METHOD: We have processed the prenatal sonographic and postnatal clinical details of 1867 inborn abnormalities in 1200 fetuses over a 7-year period. RESULTS: The mean maternal age upon delivery/abortion was 29.96 ± 5.88 years. In 671 cases, the pregnancy concluded in delivery with a mean gestational age of 35...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29135146/-laparoscopic-heminephrureterectomy-for-duplex-kidney-in-children
#14
I M Kagantsov, V V Sizonov, V I Dubrov, S G Bon-Darenko, N R Akramov, O S Shmyrov, G I Kuzovleva, N V Markov, D E Sablin, R V Surov, A V Pirogov, A A Logval
INTRODUCTION: Duplication of the upper urinary tract is one of the most common congenital urological anomalies. In patients with critically decreased or lost function of one of the renal segments, heminephrureterectomy is usually the treatment of choice. Until recently, this was an open surgery; in cases of complete removal of the ureter, an additional incision in the iliac region was required. Currently, heminephrureterectomy is increasingly performed laparoscopically. We report the experience in laparoscopic heminephrureterectomy (LHNUE) in 10 clinics in Russia and Belarus...
October 2017: Urologii︠a︡
https://www.readbyqxmd.com/read/29133973/duane-retraction-syndrome-causes-effects-and-management-strategies
#15
REVIEW
Ramesh Kekunnaya, Mithila Negalur
Duane retraction syndrome (DRS) is a congenital eye movement anomaly characterized by variable horizontal duction deficits, with narrowing of the palpebral fissure and globe retraction on attempted adduction, occasionally accompanied by upshoot or down-shoot. The etiopathogenesis of this condition can be explained by a spectrum of mechanical, innervational, neurologic and genetic abnormalities occurring independently or which influence each other giving rise to patterns of clinical presentations along with a complex set of ocular and systemic anomalies...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/29132966/effect-of-maternal-and-pregnancy-risk-factors-on-early-neonatal-death-in-planned-home-births-delivering-at-home
#16
Sophia Bachilova, Nicholas Czuzoj-Shulman, Haim Arie Abenhaim
OBJECTIVE: The prevalence of home birth in the United States is increasing, although its safety is undetermined. The objective of this study was to investigate the effects of obstetrical risk factors on early neonatal death in planned home births delivering at home. METHODS: The authors conducted a retrospective 3-year cohort study consisting of planned home births that delivered at home in the United States between 2011 and 2013. The study excluded infants with congenital and chromosomal anomalies and infants born at ≤34 weeks' gestation...
November 10, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29132325/level-causes-and-risk-factors-of-stillbirth-a-population-based-case-control-study-from-chandigarh-india
#17
Ariarathinam Newtonraj, Manmeet Kaur, Madhu Gupta, Rajesh Kumar
BACKGROUND: Globally, India ranks first in the absolute number of stillbirths. Hence, the level, causes, and risk factors of stillbirths were estimated to facilitate designing of prevention strategy. METHODS: Capture and recapture method was used to identify 301 stillbirths from 1st July 2013 to 31st August 2014 in Chandigarh Union Territory of India. Verbal autopsies (n = 181) were done at household level to identify causes of stillbirths. Risk factors were determined using case-control approach...
November 13, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29131270/imaging-assessment-of-portal-venous-system-pictorial-essay-of-normal-anatomy-anatomic-variants-and-congenital-anomalies
#18
A Guerra, A M De Gaetano, A Infante, C Mele, M G Marini, E Rinninella, R Inchingolo, L Bonomo
The purpose of this pictorial essay is to describe anatomic variants and congenital anomalies of portal venous system and related liver parenchymal alterations. The imaging findings of some of these entities have been previously described in other articles, however this work encompasses all congenital anomalies of portal venous system with attention to their features on various imaging modalities; in particular we illustrated with detailed pictures all the main portal vein variants, congenital extra- and intra-hepatic porto-systemic venous shunts and portal vein aneurysm...
October 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29129522/increasing-the-safety-of-surgical-treatment-for-complex-cranio-vertebral-anomalies-using-customized-3d-printed-models
#19
Kataria Rashim, K Verma Pawan, V D Sinha
Surgery for the Cranio-vertebral (CV) junction anomalies using top loading subocciput (C0)/C1-C2 screws is difficult and requires high level of skill and expertise. This is because of complex abnormal anatomy in that region and other issues including the instrumentation. Thorough knowledge of the 3D anatomy of the Craniovertebral junction of the patient is essential for favourable outcome. The customised 3D printed model of CV junction region of the patient can be used for studying the anatomy and relationship of vertebral artery to the C1-C2 joint before the actual surgery...
November 9, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29128521/prenatal-chromosomal-microarray-analysis-in-fetuses-with-congenital-heart-disease-a-prospective-cohort-study
#20
Yan Wang, Li Cao, Dong Liang, Lulu Meng, Yun Wu, Fengchang Qiao, Xiuqing Ji, Chunyu Luo, Jingjing Zhang, Tianhui Xu, Bin Yu, Leilei Wang, Ting Wang, Qiong Pan, Dingyuan Ma, Ping Hu, Zhengfeng Xu
BACKGROUD: Currently, chromosomal microarray analysis is considered as the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of CMA for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. OBJECTIVE: Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. STUDY DESIGN: In this prospective study, 602 prenatal cases of congenital heart disease were investigated using SNP array over a 5-year period...
November 8, 2017: American Journal of Obstetrics and Gynecology
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