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congenital anomalies

Zi-Qi Shen, Shan-Yan Gao, Shawn Xiang Li, Tie-Ning Zhang, Cai-Xia Liu, Hai-Chen Lv, Yuan Zhang, Ting-Ting Gong, Xin Xu, Chao Ji, Qi-Jun Wu, Da Li
AIM: To perform a meta-analysis of available cohort studies on the association between sertraline use by pregnant women in the first trimester and the findings of congenital anomalies in infants. METHODS: A comprehensive search of articles published from the index date through December 31, 2015 investigating the aforementioned associations was conducted on PubMed and Web of Science. Mesh headings used included the terms "serotonin reuptake inhibitor," "sertraline," "congenital anomalies" and "obstetrical outcome...
October 22, 2016: British Journal of Clinical Pharmacology
K L Yew, Z Kang, A Anum
Coronary artery anomalies are often discovered incidentally during cardiac catheterization or computed tomography coronary angiography and may involve the affected coronary artery origin and its course. Coronary artery anomalies are associated with congenital heart disease. The affected coronary arteries may have an unusual high take off origin, origin from contralateral or non-coronary sinus, origin from the pulmonary artery, single coronary system or coronary artery fistula.
August 2016: Medical Journal of Malaysia
Maria Chiu, Michael Lebenbaum, Kelvin Lam, Nelson Chong, Mahmoud Azimaee, Karey Iron, Doug Manuel, Astrid Guttmann
BACKGROUND: Ontario, the most populous province in Canada, has a universal healthcare system that routinely collects health administrative data on its 13 million legal residents that is used for health research. Record linkage has become a vital tool for this research by enriching this data with the Immigration, Refugees and Citizenship Canada Permanent Resident (IRCC-PR) database and the Office of the Registrar General's Vital Statistics-Death (ORG-VSD) registry. Our objectives were to estimate linkage rates and compare characteristics of individuals in the linked versus unlinked files...
October 21, 2016: BMC Medical Informatics and Decision Making
Daniel Verdini, Daniel Vargas, Anderson Kuo, Brian Ghoshhajra, Phillip Kim, Horacio Murillo, Jacobo Kirsch, Michael Lane, Carlos Restrepo
PURPOSE: Coronary-pulmonary arterial fistulas (CPAFs) are rare coronary artery anomalies that have been described only in limited case reports. This study aims to evaluate the clinical presentation and imaging findings of CPAFs collected from 6 participating medical centers along with CPAFs reported in the literature, to discern any general trends present in CPAFs. MATERIALS AND METHODS: A total of 25 cases of CPAF diagnosed by coronary computed tomography angiography were collected across 6 participating institutions...
November 2016: Journal of Thoracic Imaging
Tomoyuki Hioki, Hiroyuki Takama, Sumiko Makita, Masashi Akiyama
Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by the absence of skin at birth, typically involving the midline of the scalp. This is the first case report to highlight the usefulness of precise ultrasonography for diagnosing mild ACC. A 1-month-old boy was referred to our hospital for assessment of a bald patch found at birth. He was born to nonconsanguineous parents in spontaneous vaginal delivery with a vacuum extractor because of fetal distress and anomaly of rotation at 40 weeks of gestation...
October 21, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Ádám Berniczei-Roykó, Jan-Hendrik Tappe, Axel Krinner, Tomasz Gredes, András Végh, Katona Gábor, Kamila Linkowska-Świdzińska, Ute Ulrike Botzenhart
BACKGROUND Cleft defects are one of the most frequent birth-deformities of the orofacial region and they are commonly associated with anomalies of the tooth structure, size, shape, formation, eruption, and tooth number. The aim of our study was to evaluate the prevalence, distribution, and potential association of combined hypodontia in cleft-affected patients with regard to all types of teeth in both jaws in the permanent dentition. MATERIAL AND METHODS This retrospective radiographic analysis included patients with various types of clefts treated orthodontically in the Department of Orofacial Orthopedics and Orthodontics at Heim Pàl Children's Hospital, Budapest...
October 21, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Amee M Bigelow, Brandon S Arnold, Gregory C Padrutt, John M Clark
In current practice, children with anatomically normal hearts routinely undergo fluoroscopy-free ablations. Infants and children with congenital heart disease (CHD) represent the most difficult population to perform catheter ablation without fluoroscopy. We report two neonatal patients with CHD in whom cardiac ablations were performed without fluoroscopy. The first infant had pulmonary atresia with intact ventricular septum with refractory supraventricular tachycardia, and the second infant presented with Ebstein's anomaly of the tricuspid valve along with persistent supraventricular tachycardia...
October 21, 2016: Cardiology in the Young
Naoya Niwa, Takashi Ohigashi, Hideharu Bessho, Takashi Arakawa
A bifid ureter with a distal blind-ending branch is a rare congenital anomaly. Most patients are asymptomatic; only patients with complications, such as infection, vesicoureteral reflux, or stone formation, present symptoms. We describe the case of a patient with urinary stone located in the distal blind-ending branch of a bifid ureter diagnosed during transurethral lithotripsy. Preoperative noncontrast-enhanced computed tomography did not reveal a stone in the distal blind-ending branch of the bifid ureter, but a rigid ureteroscope did; however, it could not reach the stone...
October 17, 2016: Urology
Brad T Morrow, William B Albright, Rogerio I Neves, Michael J Wilkinson, Thomas D Samson
BACKGROUND: Congenital anophthalmia is a rare anomaly that results in micro-orbitism and craniofacial microsomia. Treatment with static conformers is labor-intensive and provides minimal stimulation for orbital growth that requires eventual reconstruction with orbital osteotomies after skeletal maturity. METHODS: A protocol for the treatment of congenital anophthalmia is presented. Patients underwent a preoperative low-dose radiation computed tomography (CT) scan of the facial bones to assess orbital volume...
October 2016: Journal of Craniofacial Surgery
Carolin A Boecking, Eleanor A Drey, Jennifer L Kerns, Walter E Finkbeiner
CONTEXT: -Despite increased use of dilation and evacuation in the setting of fetuses with developmental anomalies, the pathology examination of fragmented specimens obtained by this technique has been understudied. OBJECTIVES: -To correlate pathologic findings in second-trimester fetal dilation and evacuation specimens with prenatal diagnoses established through ultrasound and/or chromosome studies to determine the value of pathology examination for supplementing or correcting clinical diagnoses...
October 20, 2016: Archives of Pathology & Laboratory Medicine
Abraham Speedie, Cinosh Mathew, Rashmi Kerr, Rajneesh Calton
Coronary artery anomalies include anomalies of origin, termination, structure or course. Coronary artery fistulae (CAF) are classified as abnormalities of termination and are considered a major congenital anomaly. A coronary artery fistula involves a sizable communication between a coronary artery, bypassing the myocardial capillary bed and entering either a chamber of the heart (coronary-cameral fistula) or a great vessel. Bilateral coronary artery fistula, are a rare variant. We describe a bilateral CAF with angina and significant coronary artery disease requiring percutaneous coronary intervention...
August 2016: Journal of the Association of Physicians of India
Tuula Hölttä, Marjolein Bonthuis, Karlijn J Van Stralen, Anna Bjerre, Rezan Topaloglu, Fatih Ozaltin, Christer Holmberg, Jerome Harambat, Kitty J Jager, Franz Schaefer, Jaap W Groothoff
BACKGROUND: Congenital nephrotic syndrome (CNS) of the Finnish type, NPHS1, is the most severe form of CNS. Outcomes of renal replacement therapy (RRT) in NPHS1 patients in Europe were analysed using data from the ESPN/ERA-EDTA Registry. As NPHS1 is most prevalent in Finland and the therapeutic approach differs from that in many other countries, we compared outcomes in Finnish and other European patients. METHODS: NPHS1 mutations were confirmed in 170 children with CNS who initiated RRT (dialysis or renal transplantation) between 1991 and 2012...
October 20, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Kanika Gupta, Bhuvaneswari Venkatesan, Kiruba Shankar Manoharan, Vaithianathan Rajalakshmi, Maya Menon
Congenital high airway obstruction syndrome is a rare fetal anomaly with characteristic constellation of prenatal findings on ultrasound and MRI. The typical triad of imaging features are enlarged and echogenic lungs, flattening or inversion of diaphragm and fetal hydrops. Early prenatal recognition of congenital high airway obstruction syndrome by ultrasound and/or MRI is mandatory for the appropriate perinatal management. We report a case of a male fetus with typical imaging findings of congenital high airway obstruction syndrome on ultrasound and MRI at 19 weeks of gestation...
August 2016: Journal of Radiology Case Reports
Jason K Lee, Alexander J Towbin
Currarino syndrome is a congenital disorder, consisting of a triad of anomalies including an anorectal malformation, sacral anomaly, and a presacral mass. Anterior sacral meningoceles are the most common presacral mass. A young child presented to our institution with an unrepaired anorectal malformation and a large anterior sacral meningocele. We describe how the anterior meningocele affected the imaging work-up.
June 2016: Journal of Radiology Case Reports
Damiano Regazzoli, Manuela Giglio, Francesca Besana, Pier Pasquale Leone, Akihito Tanaka, Marco Bruno Ancona, Antonio Mangieri, Matteo Montorfano, Francesco Giannini, Giuseppe De Angelis, Antonio Colombo, Azeem Latib
Congenital coronary-pulmonary fistulas are uncommon coronary anomalies. We present a case of a 63-year-old woman with a tortuous fistula between the proximal left anterior descending and main pulmonary artery which was effectively closed using an AMPLATZER Vascular Plug IV.
October 2, 2016: International Journal of Cardiology
C C Wu, Y H Chen, T H Yang, K N Lin, S Y Lee, T C Liu, C J Hsu
Congenital ossicular chain anomalies are rare, but are clinically important because hearing loss in most cases is correctable by appropriate surgical interventions. The great diversity in anatomic variations makes congenital ossicular chain anomalies a surgical challenge for otologists. Theoretically, endoscopic surgery might be suitable for management of congenital ossicular chain anomalies by improving visualization of lesions and preserving uninvolved anatomic structures as compared to conventional microscopic surgery...
October 19, 2016: Clinical Otolaryngology
Achiya Zvi Amir, Gadi Horev, Joanne Yacobovich, Michael Bennett, Hannah Tamary
The congenital dyserythropoietic anemias (CDAs) are a group of rare genetic disorders characterized by ineffective erythropoiesis and the development of secondary hemochromatosis. Distal limb anomalies are a well-documented though rare feature of congenital dyserythropoietic anemia type I, that have not been reported so far in other types. We describe a patient with congenital dyserythropoietic anemia type II and four members of a family with clinical features of congenital dyserythropoietic anemia type III with distal limb anomalies...
October 19, 2016: American Journal of Medical Genetics. Part A
Anne Synnes, Thuy Mai Luu, Diane Moddemann, Paige Church, David Lee, Michael Vincer, Marilyn Ballantyne, Annette Majnemer, Dianne Creighton, Junmin Yang, Reginald Sauve, Saroj Saigal, Prakesh Shah, Shoo K Lee
OBJECTIVES: Identify determinants of neurodevelopmental outcome in preterm children. METHODS: Prospective national cohort study of children born between 2009 and 2011 at <29 weeks gestational age, admitted to one of 28 Canadian neonatal intensive care units and assessed at a Canadian Neonatal Follow-up Network site at 21 months corrected age for cerebral palsy (CP), visual, hearing and developmental status using the Bayley Scales of Infant and Toddler Development-Third Edition (Bayley-III)...
October 6, 2016: Archives of Disease in Childhood. Fetal and Neonatal Edition
Hae Il Jung, Hyoung Uk Lee, Tae Sung Ahn, Jong Eun Lee, Hyun Yong Lee, Seong Taek Mun, Moo-Jun Baek, Sang Ho Bae
Alimentary tract duplications are uncommon congenital anomalies that usually present during the first decade of life. Complete duplication of the colon in adults is very rare and difficult to diagnose preoperatively. We report a case of a 40-year-old female with complete tubular duplication which was initially misdiagnosed as a salpingeal abscess due to colovaginal fistula.
October 2016: Annals of Surgical Treatment and Research
Amos Grünebaum, Laurence B McCullough, Birgit Arabin, Joachim Dudenhausen, Brooke Orosz, Frank A Chervenak
INTRODUCTION: The objective of this study was to evaluate the underlying causes of neonatal mortality (NNM) in midwife-attended home births and compare them to hospital births attended by a midwife or a physician in the United States (US). METHODS: A retrospective cohort study of the Centers for Disease Control (CDC) linked birth/infant death data set (linked files) for 2008 through 2012 of singleton, term (≥37 weeks) births and normal newborn weights (≥2500 grams)...
October 18, 2016: Journal of Perinatal Medicine
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