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Congenital structure abnormality

Osman Güvenç, Ender Ödemiş, Murat Saygı, İbrahim Halil Demir
Major aortopulmonary collateral arteries are abnormal vascular structures that may be seen in cyanotic diseases that progress with reduced pulmonary flow. They occur rather rarely in the absence of cyanotic congenital heart disease. Presently described is the case of an infant who underwent patent ductus arteriosus (PDA) and major aortopulmonary collateral artery occlusion in a single session, without presence of cyanotic congenital heart disease. To the best of our knowledge, this is the first case of congenital aortopulmonary collateral artery to be reported in a symptomatic infant with PDA...
October 2016: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
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
Mohammad Jafarian, Nima Dehghani, Shahin Shams, Mohammad Esmaeelinejad, Farzad Aghdashi
Arteriovenous malformations are uncommon congenital disorders in vascular development. They frequently involve craniofacial structures and result in a morphogenic abnormality with ominous arteriovenous shunting. We present a huge AVM of the upper lip in an 18-year-old patient who was successfully treated by the combination method of presurgical endovascular embolization and complete resection of the lesion. Subsequent surgical defect in upper lip, which involved more than two-third of the lip length, was reconstructed via Webster's modification of cheek advancement flap...
September 2016: Journal of Maxillofacial and Oral Surgery
Zehra Ordulu, Tammy Kammin, Harrison Brand, Vamsee Pillalamarri, Claire E Redin, Ryan L Collins, Ian Blumenthal, Carrie Hanscom, Shahrin Pereira, India Bradley, Barbara F Crandall, Pamela Gerrol, Mark A Hayden, Naveed Hussain, Bibi Kanengisser-Pines, Sibel Kantarci, Brynn Levy, Michael J Macera, Fabiola Quintero-Rivera, Erica Spiegel, Blair Stevens, Janet E Ulm, Dorothy Warburton, Louise E Wilkins-Haug, Naomi Yachelevich, James F Gusella, Michael E Talkowski, Cynthia C Morton
In this exciting era of "next-gen cytogenetics," integrating genomic sequencing into the prenatal diagnostic setting is possible within an actionable time frame and can provide precise delineation of balanced chromosomal rearrangements at the nucleotide level. Given the increased risk of congenital abnormalities in newborns with de novo balanced chromosomal rearrangements, comprehensive interpretation of breakpoints could substantially improve prediction of phenotypic outcomes and support perinatal medical care...
October 5, 2016: American Journal of Human Genetics
Justin T Tretter, Diane E Spicer, Shumpei Mori, Sathish Chikkabyrappa, Andrew N Redington, Robert H Anderson
A comprehensive understanding of the normal and abnormal aortic root is paramount if we are to improve not only our assessment of the aortic root and its components but also the surgical approach to reconstructing this complex structure when congenitally malformed. Most anatomic and imaging-based classifications of the normal root recognize and describe the basic components, which include the shape and size of the three aortic sinuses and their three valvar leaflets, as well as the sinutubular junction and proximal ascending aorta...
October 11, 2016: Journal of the American Society of Echocardiography
Erin A Fender, Ammar M Killu, Bryan C Cannon, Paul A Friedman, Christopher J Mcleod, David O Hodge, Craig S Broberg, Charles A Henrikson, Yong-Mei Cha
AIMS: Patients with congenital heart disease (CHD) are at increased risk for intracardiac device malfunction and infection that may necessitate extraction; however, the risk of extraction is poorly understood. This study addresses the safety of extraction in patients with structural heart disease and previous cardiac surgery. METHODS: This retrospective study included 40 CHD and 80 matched control patients, who underwent transvenous lead extractions between 2001 and 2014...
October 13, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
Daniele Mandrioli, Fiorella Belpoggi, Ellen K Silbergeld, Melissa J Perry
Aneuploidy, defined as structural and numerical aberrations of chromosomes, continues to draw attention as an informative effect biomarker for carcinogens and male reproductive toxicants. It has been well documented that aneuploidy is a hallmark of cancer. Aneuploidies in oocytes and spermatozoa contribute to infertility, pregnancy loss and a number of congenital abnormalities, and sperm aneuploidy is associated with testicular cancer. It is striking that several carcinogens induce aneuploidy in somatic cells, and also adversely affect the chromosome compliment of germ cells...
October 12, 2016: Environmental Health: a Global Access Science Source
Connie Y Chang, Daniel I Rosenthal, Deborah M Mitchell, Atsuhiko Handa, Susan V Kattapuram, Ambrose J Huang
Metabolic bone diseases are a diverse group of diseases that result in abnormalities of (a) bone mass, (b) structure mineral homeostasis, (c) bone turnover, or (d) growth. Osteoporosis, the most common metabolic bone disease, results in generalized loss of bone mass and deterioration in the bone microarchitecture. Impaired chondrocyte development and failure to mineralize growth plate cartilage in rickets lead to widened growth plates and frayed metaphyses at sites of greatest growth. Osteomalacia is the result of impaired mineralization of newly formed osteoid, which leads to characteristic Looser zones...
October 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Sarah Meaney, Paul Corcoran, Keelin O'Donoghue
BACKGROUND: Perinatal death is one of the most difficult bereavements due to the shock and profound grief experienced by parents. It has been established that such bereavement has a life-lasting impact. Twin pregnancy is associated with increased perinatal risk, with higher rates of perinatal mortality than in singleton pregnancy. OBJECTIVES: To date, few studies have examined the effect of the loss of one twin diagnosed with a congenital abnormality during pregnancy...
October 11, 2016: Journal of Palliative Medicine
Shouichi Ohga
Congenital hemolytic anemia is a group of monogenic diseases presenting with anemia due to increased destruction of circulating erythrocytes. The etiology of inherited anemia accounts for germline mutations of the responsible genes coding for the structural components of erythrocytes and extra-erythrocytes. The erythrocyte abnormalities are classified into three major disorders of red cell membrane defects, hemoglobinopathies, and red cell enzymopathies. The extra-erythrocyte abnormalities, typified by consumption coagulopathy and intravascular hemolysis, include Upshaw-Schulman syndrome and atypical hemolytic uremic syndrome...
2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
Anca D Mateescu, Ioan M Coman, Carmen C Beladan, Bogdan Radulescu, Carmen Ginghina, Bogdan A Popescu
We report the case of a rare association of a congenital Gerbode defect with severe mitral regurgitation due to abnormal linear structure of mitral valve, diagnosed in an adult patient. The case highlights the importance of a thorough examination interpreting the echocardiographic findings on a pathophysiological basis. It also underlines the complementary role of different imaging techniques with transesophageal echocardiography, allowing the precise assessment of both structural and functional abnormalities in such a complex case...
September 2016: Korean Circulation Journal
Margarita V Revzin, Devrim Ersahin, Gary M Israel, Jonathan D Kirsch, Mahan Mathur, Jamal Bokhari, Leslie M Scoutt
Ultrasonography (US) has a fundamental role in the initial examination of patients who present with symptoms indicating abnormalities of the inguinal canal (IC), an area known for its complex anatomy. A thorough understanding of the embryologic and imaging characteristics of the contents of the IC is essential for any general radiologist. Moreover, an awareness of the various pathologic conditions that can affect IC structures is crucial to preventing misdiagnoses and ensuring optimal patient care. Early detection of IC abnormalities can reduce the risk of morbidity and mortality and facilitate proper treatment...
October 7, 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Catharina Rydberg, Katarina Tunón
INTRODUCTION: This study assessed the sensitivity of routine ultrasound examination for the detection of abnormal chromosomes and structural malformations in fetuses in the second trimester in a non-selected population. MATERIAL AND METHODS: Prenatal diagnoses of fetal abnormalities in 10 414 fetuses and newborns were reviewed and compared with all postnatal diagnoses of congenital abnormalities between 2006 and 2013. RESULTS: Overall, 243 fetuses and newborns had confirmed congenital abnormalities, with a prevalence of 2...
October 7, 2016: Acta Obstetricia et Gynecologica Scandinavica
Giulia Ottaviani
Crib death, or sudden infant death syndrome (SIDS), is the most frequent form of death in the first year of life, striking one baby in every 1,700-2,000. Yet, despite advances in maternal-infant care, sudden intrauterine unexplained/unexpected death syndrome (SIUDS) has a sixfold to eightfold greater incidence than that of SIDS. Frequent congenital abnormalities, likely morphological substrates for SIDS-SIUDS, were detected, mainly represented by alterations of the cardiac conduction system, such as accessory pathways and abnormal resorptive degeneration, and hypoplasia/agenesis of the vital brainstem structures...
2016: Frontiers in Pediatrics
María Paz Bidondo, Boris Groisman, Agostina Tardivo, Fabián Tomasoni, Verónica Tejeiro, Inés Camacho, Mariana Vilas, Rosa Liascovich, Pablo Barbero
BACKGROUND: Diprosopus is a subtype of symmetric conjoined twins with one head, facial duplication and a single trunk. Diprosopus is a very rare congenital anomaly. METHODS: This is a systematic review of published cases and the presentation of two new cases born in Argentina. We estimated the prevalence of conjoined twins and diprosopus using data from the National Network of Congenital Anomalies of Argentina (RENAC). RESULTS: The prevalence of conjoined twins in RENAC was 19 per 1,000,000 births (95% confidence interval, 12-29)...
October 5, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Wilson E Sadoh, Paul Ikhurionan, Charles Imarengiaye
BACKGROUND: A pre-anaesthestic echocardiogram (echo) is requested for most non-cardiac surgeries to identify possible cardiac structural anomalies. OBJECTIVE: To describe the prevalence and spectrum of structural cardiac abnormalities seen in various non-cardiac conditions. METHODS: We carried out a retrospective review of pre-anaesthetic echos performed over five years on children scheduled for non-cardiac surgery. The requests were categorised according to referring specialities, and the biodata and echo findings were noted...
September 9, 2016: Cardiovascular Journal of Africa
A Ulloa-Aguirre, S Lira-Albarrán
The pituitary gonadotropins, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) play a pivotal role in reproduction. The synthesis and secretion of gonadotropins are regulated by complex interactions among several endocrine, paracrine, and autocrine factors of diverse chemical structure. In men, LH regulates the synthesis of androgens by the Leydig cells, whereas FSH promotes Sertoli cell function and thereby influences spermatogenesis. Gonadotropins are complex molecules composed of two subunits, the α- and β-subunit, that are noncovalently associated...
2016: Progress in Molecular Biology and Translational Science
Jitendra Chourasia, Vijay Chourasia, A K Mittra
Congenital heart defects (CHD) are one of the utmost birth defects present in the neonatal after birth and a big challenge for the researchers to identify the structural abnormality during the antepartum period. An algorithm is presented here to identify the presence of CHD through foetal phonocardiographic (fPCG) signals. The recorded fPCG is decomposed using Daubechies4 wavelet with sub-level threshold to remove the noise in the signal. The Shannon energy is used to identify the different peaks of signals and then S1 and S2 according to the intervals between adjacent peaks...
October 4, 2016: Journal of Medical Engineering & Technology
Hadyl Asfari, Julien Souvignet, Agnès Lillo-Le Louët, Béatrice Trombert, Marie-Christine Jaulent, Cédric Bousquet
AIM: To propose an alternative approach for building custom groupings of terms that complements the usual approach based on both hierarchical method (selection of reference groupings in medical dictionary for regulatory activities [MedDRA]) and/or textual method (string search), for case reports extraction from a pharmacovigilance database in response to a safety problem. Here we take cardiac valve fibrosis as an example. METHODS: The list of terms obtained by an automated approach, based on querying ontology of adverse drug reactions (OntoADR), a knowledge base defining MedDRA terms through relationships with systematized nomenclature of medicine-clinical terms (SNOMED CT) concepts, was compared with the reference list consisting of 53 preferred terms obtained by hierarchical and textual method...
July 21, 2016: Thérapie
Johanna Calderon, Christian Stopp, David Wypij, David R DeMaso, Michael Rivkin, Jane W Newburger, David C Bellinger
OBJECTIVES: To investigate the long-term impact of early-term birth (37-38 weeks' gestation) relative to full-term birth (≥39 weeks' gestation) on neurodevelopmental and psychiatric outcomes in adolescents with single-ventricle congenital heart disease (CHD). STUDY DESIGN: This cross-sectional cohort study analyzed retrospective medical records from full term adolescents with single-ventricle CHD who underwent the Fontan procedure. Participants underwent neurodevelopmental and psychiatric evaluations, as well as structural brain magnetic resonance imaging...
September 27, 2016: Journal of Pediatrics
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