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https://www.readbyqxmd.com/read/28718185/congenital-pulmonary-lymphangiectasia-a-disorder-not-only-of-fetoneonates
#1
Shi-Min Yuan
Congenital pulmonary lymphangiectasia (CPL) is a rare developmental disorder of the lung, characterized by dilation of pulmonary subpleural, interlobar, perivascular and peribronchial lymphatics. The incidence of CPL among stillborn and neonates was estimated to be <1%. The etiology of CPL is unknown. However, it has been suspected to be of a genetic background. Recent basic studies revealed that it might be caused by the FOXC2, Vegfr-3 and integrin α9β1gene mutations. A clinical diagnosis of CPL can be made much easier in full-term neonates who present with respiratory distress, pleural (especially chylous) effusions with or without generalized edema...
July 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28718179/genetic-alterations-in-pendrin-slc26a4-gene-in-adult-hypothyroid-patients
#2
Sourav Mukherjee, Manalee Guha, Bidisha Adhikary, Biswabandhu Bankura, Pubali Mitra, Subhankar Chowdhury, Madhusudan Das
Current study was aimed to screen the SLC26A4 gene in 127 nonautoimmune and noncongenital hypothyroid patients, who were under optimal iodine nutrition and devoid of any characteristics of Pendred syndrome from eastern part of Indian population. 8 single nucleotide variants/mutations were identified in heterozygous state in 20% patient population, which include 1 novel nonsynonymous (p.C18S), 1 novel intronic (g.942C>A), 3 known nonsynonymous (p.S23X, p.V239D, and p.I455F), and 3 known intronic (g.23034G>T, g...
July 17, 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/28716913/antibody-based-assay-discriminates-zika-virus-infection-from-other-flaviviruses
#3
Angel Balmaseda, Karin Stettler, Raquel Medialdea-Carrera, Damaris Collado, Xia Jin, José Victor Zambrana, Stefano Jaconi, Elisabetta Cameroni, Saira Saborio, Francesca Rovida, Elena Percivalle, Samreen Ijaz, Steve Dicks, Ines Ushiro-Lumb, Luisa Barzon, Patricia Siqueira, David W G Brown, Fausto Baldanti, Richard Tedder, Maria Zambon, A M Bispo de Filippis, Eva Harris, Davide Corti
Zika virus (ZIKV) is a mosquito-borne flavivirus that emerged recently as a global health threat, causing a pandemic in the Americas. ZIKV infection mostly causes mild disease, but is linked to devastating congenital birth defects and Guillain-Barré syndrome in adults. The high level of cross-reactivity among flaviviruses and their cocirculation has complicated serological approaches to differentially detect ZIKV and dengue virus (DENV) infections, accentuating the urgent need for a specific and sensitive serological test...
July 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28714226/extranasopharyngeal-angiofibroma-revisited
#4
Jochen P Windfuhr, Julia Vent
BACKGROUND: Angiofibromas in the head and neck region usually arise in the nasopharynx, but may also occur elsewhere. This study aims at evaluating the incidence and clinical features of extranasopharyngeal angiofibroma (ENA). MATERIAL AND METHODS: Systematic review of the literature (Medline(®) and Google(™) ) up to December 31(st) , 2015. RESULTS: 174 cases of ENA were retrieved from a total of 170 publications. In contrast to former publications and previous understanding, the nasal septum was by far the most common site of the disease...
July 17, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28713619/functional-and-clinical-importance-of-a-large-sized-ostium-secundum-defect-in-a-middle-aged-female-cadaver-a-case-report
#5
Satheesha B Nayak
Atrial septal defect (ASD) is one of the common congenital anomalies of the heart in humans. Its complications depend on the size of the defect and can manifest at any age. The common symptoms of ASD include dyspnea and fatigue. Most of the ASDs are associated with morbidity and mortality, Earlier the treatment, it is better to the patient. I saw a large ostium secundum defect in the heart of an adult female cadaver during dissection classes for undergraduate medical students. The interatrial septum had large defect at the region where fossa ovalis should have been located...
June 2017: Anatomy & Cell Biology
https://www.readbyqxmd.com/read/28711074/hereditary-renal-diseases
#6
Lakshmi Mehta, Belinda Jim
Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Technologic advances have improved our ability to perform genetic diagnosis and enhanced our understanding of renal and syndromic diseases. In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport syndrome, and Fabry disease, as well as complex disorders such as congenital anomalies of the kidney and urinary tract...
July 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/28710292/the-safety-of-intracytoplasmic-sperm-injection-and-long-term-outcomes
#7
Nigel Pereira, Claire L O'Neill, Vivian Lu, Zev Rosenwaks, Gianpiero D Palermo
The pioneering of intracytoplasmic sperm injection (ICSI) approximately 25 years ago revolutionized the treatment of infertile couples. Today, ICSI remains an indispensable part of assisted reproductive treatments (ART) and has resulted in the birth of millions of babies. The 25th anniversary of ICSI marks a chronologic landmark in its evolving history. This landmark also serves as an opportunity to thoroughly appraise the safety of ICSI and analyze the long-term outcomes of ICSI-conceived children. In this review, we collate and analyze salient data accrued over the past 25 years pertaining to the long-term safety of ICSI and ICSI conceptions...
July 14, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28709919/morbidity-after-cardiac-surgery-in-patients-with-adult-congenital-heart-disease-in-comparison-with-acquired-disease
#8
Dimos Karangelis, Amine Mazine, Sreekanth Narsupalli, Shamarli Mendis, Gruschen Veldtman, Nicolas Nikolaidis
BACKGROUND: Due to the advancements in congenital cardiac surgery and interventional cardiology in the last five decades, more than 85% of congenital heart patients now survive to adulthood. METHODS: This retrospective study included 135 Adult Congenital Heart Disease (ACHD) patients, who had cardiac surgery at Southampton General Hospital over three consecutive years. We also included 42 patients with a structurally normal heart who had cardiac surgery for acquired cardiac conditions as a control group...
June 28, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28707365/use-of-3-d-digital-subtraction-rotational-angiography-during-cardiac-catheterization-of-infants-and-adults-with-congenital-heart-diseases
#9
Sushitha Surendran, B Rush Waller, Lucas Elijovich, Vijaykumar Agrawal, Andrew Kuhls-Gilcrist, Jason Johnson, Thomas Fagan, Shyam K Sathanandam
OBJECTIVE: To compare image quality, radiation and contrast doses required to obtain 3D-Digital subtraction rotational angiography (3D-DSRA) with 3D-Digital rotational angiography (3D-DRA) in infants (children ≤ 2 years of age) and adults with congenital heart diseases (ACHD). BACKGROUND: 3D-DRA can be performed with radiation doses comparable to bi-plane cine-angiography. However, 3D-DRA in infants requires a large contrast volume. The resolution of 3D-DRA performed in ACHD patients is limited by their soft tissue density...
July 14, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28707262/exercise-n-13-cardiac-positron-emission-tomography-myocardial-perfusion-imaging-detecting-ischemia-in-an-adult-patient-with-anomalous-aortic-origin-of-the-left-main-coronary-artery-from-the-right-coronary-sinus
#10
Matthew R Summers, Hani Najm, James L Gentry Iii, Wael A Jaber
Anomalous aortic origin of a coronary artery is a rare congenital condition that has variable presentations from atypical chest pain to syncope and cardiac arrest. Commonly used myocardial perfusion imaging techniques, stress agents, and perfusion agents may have limited ability to detect inducible ischemia in this rare patient group. We herein describe a unique case of anomalous left main coronary artery from a common right coronary sinus ostium with a subpulmonic and intramyocardial course. This patient had multiple atypical chest pain presentations and multiple-negative pharmacologic single-photon emission-computed tomography stress tests performed...
July 13, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28706735/the-importance-of-copy-number-variation-in-congenital-heart-disease
#11
Gregory Costain, Candice K Silversides, Anne S Bassett
Congenital heart disease (CHD) is the most common class of major malformations in humans. The historical association with large chromosomal abnormalities foreshadowed the role of submicroscopic rare copy number variations (CNVs) as important genetic causes of CHD. Recent studies have provided robust evidence for these structural variants as genome-wide contributors to all forms of CHD, including CHD that appears isolated without extra-cardiac features. Overall, a CNV-related molecular diagnosis can be made in up to one in eight patients with CHD...
September 14, 2016: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/28706585/atrial-tachyarrhythmia-in-adult-congenital-heart-disease
#12
REVIEW
Arsha Karbassi, Krishnakumar Nair, Louise Harris, Rachel M Wald, S Lucy Roche
The adult congenital heart disease (ACHD) population continues to grow and most cardiologists, emergency room physicians and family doctors will intermittently come into contact with these patients. Oftentimes this may be in the setting of a presentation with atrial tachyarrhythmia; one of the commonest late complications of ACHD and problem with potentially serious implications. Providing appropriate initial care and ongoing management of atrial tachyarrhythmia in ACHD patients requires a degree of specialist knowledge and an awareness of certain key issues...
June 26, 2017: World Journal of Cardiology
https://www.readbyqxmd.com/read/28705803/clinical-practice-guidelines-for-the-care-of-girls-and-women-with-turner-syndrome-proceedings-from-the-2016-cincinnati-international-turner-syndrome-meeting
#13
Claus H Gravholt, Niels H Andersen, Gerard S Conway, Olaf M Dekkers, Mitchell E Geffner, Karen O Klein, Angela E Lin, Nelly Mauras, Charmian A Quigley, Karen Rubin, David E Sandberg, Theo C J Sas, Michael Silberbach, Viveca Söderström-Anttila, Kirstine Stochholm, Janielle A van Alfen-van derVelden, Joachim Woelfle, Philippe F Backeljauw
Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016...
September 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28705603/ischemic-heart-disease-in-children-and-young-adults-with-congenital-heart-disease-in-sweden
#14
Maria Fedchenko, Zacharias Mandalenakis, Annika Rosengren, Georg Lappas, Peter Eriksson, Kristofer Skoglund, Mikael Dellborg
BACKGROUND: An increasing proportion of congenital heart disease (CoHD) patients survive to an age associated with increased risk of developing ischemic heart disease (IHD). The aim was to investigate the risk of developing IHD among children and young adults with CoHD. METHODS: Using the Swedish National Patient Register, we created a cohort of all CoHD patients born between January 1970 and December 1993. Ten controls matched for age, sex, county were randomly selected from the general population for each patient (n=219,816)...
July 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28705567/%C3%A2-%C3%A2-le-service-de-p%C3%A3-diatrie-%C3%A3-tait-notre-deuxi%C3%A3-me-maison%C3%A2-%C3%A2
#15
Emmanuelle Barsky
"THE PAEDIATRICS DEPARTMENT WAS OUR SECOND HOME".: At the age of a few months, Yakub was diagnosed with congenital liver fibrosis then polycystic kidney disease. He has been monitored regularly since then, and has had to be readmitted on several occasions due to complications. Now, aged 15, he is waiting for a liver transplant and is under the care of the adult hepatology department. The transition from paediatrics to the adult services was prepared, in advance, with him and his family. Yakub and his mother's account...
July 2017: Soins. Pédiatrie, Puériculture
https://www.readbyqxmd.com/read/28704916/three-dimensional-echocardiography-in-adult-congenital-heart-disease
#16
REVIEW
Hyun Suk Yang
Congenital heart disease (CHD) is now more common in adults than in children due to improvements in fetal echo, neonatal and pediatric care, and surgical techniques leading to dramatically increased survivability into adulthood. Adult patients with CHD, regardless of prior cardiac surgery, experience further cardiac problems or therapeutic challenges; therefore, a non-invasive, easily accessible echocardiographic examination is an essential follow-up tool. Among echocardiographic modalities, three-dimensional (3D) echocardiography provides better delineation of spatial relationships in complex cardiac geometries and more accurate volumetric information without geometric assumptions...
July 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/28702947/initial-validation-of-a-healthcare-needs-scale-for-youth-with-congenital-heart-disease
#17
Chi-Wen Chen, Ciao-Lin Ho, Wen-Jen Su, Jou-Kou Wang, Hung-Tao Chung, Pi-Chang Lee, Chun-Wei Lu, Be-Tau Hwang
AIM: To validate the initial psychometric properties of a Healthcare Needs Scale for Youth with Congenital Heart Disease. BACKGROUND: As the number of patients with congenital heart disease surviving to adulthood increases, the transitional healthcare needs for adolescents and young adults with congenital heart disease require investigation. However, few tools comprehensively identify the healthcare needs of youth with congenital heart disease. DESIGN: A cross-sectional study was employed to examine the psychometric properties of the Healthcare Needs Scale for Youth with Congenital Heart Disease...
July 12, 2017: Journal of Advanced Nursing
https://www.readbyqxmd.com/read/28702053/etiology-of-hypopituitarism-in-adult-patients-the-experience-of-a-single-center-database-in-the-serbian-population
#18
M Doknić, S Pekić, D Miljić, I Soldatović, V Popović, M Stojanović, M Petakov
There are only a few published studies related to the population-based etiology of hypopituitarism. New risks for developing hypopituitarism have been recognized in the last 10 years. Aim. To present data regarding the etiology of hypopituitarism collected in a tertiary center over the last decade. This is a cross-sectional database study. Patients and Methods. We included 512 patients (pts) with hypopituitarism, with a mean age of 45.9 ± 1.7 yrs (range: 18-82; male: 57.9%). Results. Nonfunctional pituitary adenomas were presented in 205 pts (40...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28701846/rare-presentation-of-congenital-diaphragmatic-hernia-in-a-sexagenarian
#19
C Danny Darlington, G Fatima Shirly Anitha
Congenital diaphragmatic hernia (CDH) usually presents in the neonatal period, and about 10% of reported cases occur in adults. The most common type is Bochdalek's hernia, which occurs through a defect in the posterolateral portion of the diaphragm with an estimated prevalence of 1 in 2500 live births. CDH in adults presents with gastrointestinal or respiratory symptoms, which can be acute or intermittent. We report a case of CDH diagnosed in a 55-year-old man, who presented with acute onset of chest pain and dyspnea with insignificant past history...
June 2017: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/28701611/the-utility-of-targeted-perioperative-transthoracic-echocardiography-in-managing-an-adult-patient-with-anomalous-origin-of-the-left-coronary-artery-pulmonary-artery-for-noncardiac-surgery
#20
Anudeep Jafra, Suman Arora, Aveek Jayant
Congenital coronary artery anomalies as a whole are uncommon. Abnormal origin of the left coronary artery from the pulmonary artery (ALCAPA) is probably the most common congenital coronary defect. An overwhelming majority of the patients with untreated ALCAPA do not survive to adulthood. As yet, there is no consensus on the management of adults with ALCAPA. We describe a patient with breast malignancy and incidentally detected ALCAPA; primacy was given to treatment of the oncologic condition as a first step...
July 2017: Annals of Cardiac Anaesthesia
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