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congenital anomaly

Masoumeh Ghafarzadeh, Mehrdad Namdari, Ali Eatemadi
Congenital heart disease (CHD) is the most prevalent congenital anomaly in newborn babies. Cardiac malformations have been induced in different animal model experiments, by perturbing some molecules that take part in the developmental pathways associated with myocyte differentiation, specification, or cardiac morphogenesis. The exact epigenetic, environmental, or genetic, basis for these molecules perturbations is yet to be understood. But, scientist have bridged this gap by introducing autologous stem cell into the defective hearts to treat CHD...
October 22, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
Chulananda Goonasekera, Kamal Ali, Ann Hickey, Lekshmi Sasidharan, Malcolm Mathew, Mark Davenport, Anne Greenough
BACKGROUND: Mortality following surgical repair of congenital diaphragmatic hernia (CDH) remains high. The volume and type of perioperative intravenous fluid administered, baro-trauma, oxygen toxicity, and the duration of anesthesia are thought to affect outcome in surgical populations. AIMS: The aim of this retrospective observational study was to determine whether the perioperative volume or type of fluids and/or the duration of anesthesia were associated with postoperative mortality and if mortality was predicted by the oxygenation index (OI) prior to or following CDH surgical repair...
October 25, 2016: Paediatric Anaesthesia
Rubén Kevin Arnold Tapia-Orihuela, Jorge Huaringa-Marcelo, David Loja-Oropeza
Introduction: Situs inversus totalis is an uncommon anomaly which exist a complete transposition of organs and it's occasionally associated with congenital heart diseases, such as tetralogy of fallot. Pheochromocytoma is a rare neuroendocrine tumor with an annual incidence of 2-8 cases per million people and for years has been studied its relationship with the hypoxic pathway. Case Report: A 29 year old male with a history of tetralogy of fallot corrected at 10 years and situs inversus totalis. He was admitted to hospital with a progressive story of four months of constipation, palpitations, headache, dyspnea and sweating...
2016: Journal of Cardiovascular and Thoracic Research
Linda M Reis, Rebecca C Tyler, Eric Weh, Kathryn E Hendee, Ariana Kariminejad, Omar Abdul-Rahman, Tawfeg Ben-Omran, Melanie A Manning, Catherine A McCarty, Terrie E Kitchner, Deborah Costakos, Elena V Semina
PURPOSE: The CYP1B1 gene encodes an enzyme that is a member of the cytochrome P450 superfamily. Mutations in CYP1B1 have been mainly reported in recessive pediatric ocular phenotypes, such as primary congenital glaucoma (PCG) and congenital glaucoma with anterior segment dysgenesis (CG with ASD), with some likely pathogenic variants also identified in families affected with adult-onset primary open angle glaucoma (POAG). METHODS: We examined CYP1B1 in 158 pediatric patients affected with PCG (eight), CG with ASD (22), CG with other developmental ocular disorders (11), juvenile glaucoma with or without additional ocular anomalies (26), and ASD or other developmental ocular conditions without glaucoma (91); in addition, a large cohort of adult patients with POAG (193) and POAG-negative controls (288) was examined...
2016: Molecular Vision
G Teofilovski-Parapid, R Jankovic, V Kanjuh, R Virmani, N Danchin, N Prates, D V Simic, B Parapid
PURPOSE: Myocardial bridge is a congenital anomaly with a markedly variable reported incidence on autopsy (4.7%-86%), likely related to geographical regions. Our previous retrospective study showed a prevalence of 0.8%, which we doubted to be the true one in the examined sample of the Serbian population. To assess the importance of the phenomenon we conducted a 2-year prospective study at the same institution. METHODS: Ninety-six cadaver hearts from adult individuals of both genders (51 men, 45 women) who died from natural causes underwent special dissection...
October 21, 2016: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
María Del Carmen Navas-Aparicio, Cinthya Mora-Mesén
No abstract text is available yet for this article.
October 21, 2016: Acta Otorrinolaringológica Española
Ankana Daga, Fredrick Dapaah-Siakwan, Sharina Rajbhandari, Cassandra Arevalo, Agnes Salvador
BACKGROUND: Acute kidney injury (AKI) is common in critically ill premature infants. There is a lack of consensus on the diagnostic definition of AKI in very low birth weight (VLBW) infants. The primary aim of this study was to determine the incidence and risk factors for AKI in VLBW infants using the AKI network (AKIN) and pRIFLE (pediatric Risk, Injury, Failure, Loss, End-Stage) criteria and to evaluate whether Clinical Risk Index for Babies (CRIB II) score is a predictor of AKI. The secondary objective was to determine the extent of agreement between the AKIN and pRIFLE criteria in the diagnosis of AKI in VLBW infants...
September 28, 2016: Pediatrics and Neonatology
Julie Jerber, Maha S Zaki, Jumana Y Al-Aama, Rasim Ozgur Rosti, Tawfeg Ben-Omran, Esra Dikoglu, Jennifer L Silhavy, Caner Caglar, Damir Musaev, Beate Albrecht, Kevin P Campbell, Tobias Willer, Mariam Almuriekhi, Ahmet Okay Çağlayan, Jiri Vajsar, Kaya Bilgüvar, Gonul Ogur, Rami Abou Jamra, Murat Günel, Joseph G Gleeson
Cobblestone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and glial cells into the arachnoid space results in the formation of cortical dysplasia. COB occurs in a wide range of genetic disorders known as dystroglycanopathies, which are congenital muscular dystrophies associated with brain and eye anomalies and range from Walker-Warburg syndrome to Fukuyama congenital muscular dystrophy. Each of these conditions has been associated with alpha-dystroglycan defects or with mutations in genes encoding basement membrane components, which are known to interact with alpha-dystroglycan...
October 14, 2016: American Journal of Human Genetics
Jagdish C Mohan, Madhu Shukla, Vishwas Mohan, Arvind Sethi
BACKGROUND: Congenital anomaly wherein the mitral valve leaflets are directly attached to the papillary muscle(s) (PM) with or without short under-developed chords is rarely reported in adults. Patients with two PMs with an intervening fibrous bridge have also been included under this head in previous studies. METHODS: Echocardiography enables accurate evaluation of the morphology and function of valve leaflets, chordae tendineae, and PM. This report describes a series of six patients aged 56-84 years who had abnormal mitral valve with a large solitary and anomalously inserted PM seen over a period of 3 years...
September 2016: Indian Heart Journal
K M Adhikari, Kannan Venkatnarayan
No abstract text is available yet for this article.
October 8, 2016: Indian Pediatrics
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
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