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https://www.readbyqxmd.com/read/28646273/pulmonary-vascular-volume-ratio-measured-by-cardiac-computed-tomography-in-children-and-young-adults-with-congenital-heart-disease-comparison-with-lung-perfusion-scintigraphy
#1
Hyun Woo Goo, Sang Hyub Park
BACKGROUND: Lung perfusion scintigraphy is regarded as the gold standard for evaluating differential lung perfusion ratio in congenital heart disease. OBJECTIVE: To compare cardiac CT with lung perfusion scintigraphy for estimated pulmonary vascular volume ratio in patients with congenital heart disease. MATERIALS AND METHODS: We included 52 children and young adults (median age 4 years, range 2 months to 28 years; 31 males) with congenital heart disease who underwent cardiac CT and lung perfusion scintigraphy without an interim surgical or transcatheter intervention and within 1 year...
June 23, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28646206/crispr-cas9-mediated-genome-editing-via-postnatal-administration-of-aav-vector-cures-haemophilia-b-mice
#2
Tsukasa Ohmori, Yasumitsu Nagao, Hiroaki Mizukami, Asuka Sakata, Shin-Ichi Muramatsu, Keiya Ozawa, Shin-Ichi Tominaga, Yutaka Hanazono, Satoshi Nishimura, Osamu Nureki, Yoichi Sakata
Haemophilia B, a congenital haemorrhagic disease caused by mutations in coagulation factor IX gene (F9), is considered an appropriate target for genome editing technology. Here, we describe treatment strategies for haemophilia B mice using the clustered regularly interspaced short palindromic repeat (CRISPR)/Cas9 system. Administration of adeno-associated virus (AAV) 8 vector harbouring Staphylococcus aureus Cas9 (SaCas9) and single guide RNA (sgRNA) to wild-type adult mice induced a double-strand break (DSB) at the target site of F9 in hepatocytes, sufficiently developing haemophilia B...
June 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28645241/long-term-outcome-after-right-ventricle-to-pulmonary-artery-conduit-surgery-and-reintervention
#3
Kristofer Skoglund, Gunnar Svensson, Ulf Thilén, Mikael Dellborg, Peter Eriksson
BACKGROUND: Reconstruction of the right ventricular outflow tract with a conduit is an established surgical procedure in congenital heart disease and reinterventions are common. OBJECTIVE: An increasing number of patients have a conduit, but there are few population-based studies of long-term outcomes after conduit surgery, reoperations, and transcatheter pulmonary valve replacement. METHODS: In April 2015, all adult patients with a conduit were identified in the Swedish National Registry for Congenital Heart Disease (SWEDCON)...
June 23, 2017: Scandinavian Cardiovascular Journal: SCJ
https://www.readbyqxmd.com/read/28643417/congenital-deafness-affects-deep-layers-in-primary-and-secondary-auditory-cortex
#4
Christoph Berger, Daniela Kühne, Verena Scheper, A Kral
Congenital deafness leads to functional deficits in the auditory cortex for which early cochlear implantation can effectively compensate. Most of these deficits have been demonstrated functionally. Furthermore, the majority of previous studies on deafness have involved the primary auditory cortex; knowledge of higher-order areas is limited to effects of cross-modal reorganization. In this study, we compared the cortical cytoarchitecture of four cortical areas in adult hearing and congenitally deaf cats (CDCs): the primary auditory field A1, two secondary auditory fields, namely the dorsal zone (DZ) and second auditory field (A2); and a reference visual association field (area 7) in the same section stained either using Nissl or SMI-32 antibodies...
June 23, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28642001/regarding-mechanical-circulatory-support-in-adults-with-congenital-heart-disease-is-it-time-to-lower-the-threshold-for-use
#5
EDITORIAL
Roosevelt Bryant, David L S Morales
No abstract text is available yet for this article.
May 29, 2017: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/28641757/long-term-follow-up-of-congenital-diaphragmatic-hernia
#6
Laura E Hollinger, Matthew T Harting, Kevin P Lally
Increased survival of patients with congenital diaphragmatic hernia has created a unique cohort of children, adolescent, and adult survivors with complex medical and surgical needs. Disease-specific morbidities offer the opportunity for multiple disciplines to unite together to provide long-term comprehensive follow-up, as well as an opportunity for research regarding late outcomes. These children can exhibit impaired pulmonary function, altered neurodevelopmental outcomes, nutritional insufficiency, musculoskeletal changes, and specialized surgical needs that benefit from regular monitoring and intervention, particularly in patients with increased disease severity...
June 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/28641756/regenerative-medicine-solutions-in-congenital-diaphragmatic-hernia
#7
Paolo De Coppi, Jan Deprest
Congenital diaphragmatic hernia (CDH) remains a major challenge and associated mortality is still significant. Patients have benefited from current therapeutic options, but most severe cases are still associated to poor outcome. Regenerative medicine is emerging as a valid option in many diseases and clinical trials are currently happening for various conditions in children and adults. We report here the advancement in the field which will help both in the understanding of further CDH development and in offering new treatment options for the difficult situations such as repair of large diaphragmatic defects and lung hypoplasia...
June 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/28639921/multisystem-imaging-findings-of-cystic-fibrosis-in-adults-recognizing-typical-and-atypical-patterns-of-disease
#8
Sarah Averill, Meghan G Lubner, Christine O Menias, Sanjeev Bhalla, Vincent M Mellnick, Tabassum A Kennedy, Perry J Pickhardt
OBJECTIVE: There is an expanding and increasingly heterogeneous population of adult patients with cystic fibrosis (CF). Although CF is usually diagnosed in children with progressive multisystem involvement, up to 7% of CF cases are currently diagnosed de novo in adults with subtle manifestations distinct from the typical features of classic CF. The purpose of this article is to present the wide spectrum of CF in adults, including both classic and nonclassic variants, with an emphasis on the nonclassic imaging findings...
July 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28638998/italian-normative-data-and-validation-of-two-neuropsychological-tests-of-face-recognition-benton-facial-recognition-test-and-cambridge-face-memory-test
#9
Andrea Albonico, Manuela Malaspina, Roberta Daini
The Benton Facial Recognition Test (BFRT) and Cambridge Face Memory Test (CFMT) are two of the most common tests used to assess face discrimination and recognition abilities and to identify individuals with prosopagnosia. However, recent studies highlighted that participant-stimulus match ethnicity, as much as gender, has to be taken into account in interpreting results from these tests. Here, in order to obtain more appropriate normative data for an Italian sample, the CFMT and BFRT were administered to a large cohort of young adults...
June 21, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28638668/severe-short-stature-in-an-adolescent-male-with-prader-willi-syndrome-and-congenital-adrenal-hyperplasia-a-therapeutic-conundrum
#10
Meredith Wasserman, Erin M Mulvihill, Angela Ganan-Soto, Serife Uysal, Jose Bernardo Quintos
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28637089/sperm-dna-damage-measured-by-sperm-chromatin-structure-assay-in-men-with-a-history-of-undescended-testes
#11
J van Brakel, M Dinkelman-Smit, S M P F de Muinck Keizer-Schrama, F W J Hazebroek, G R Dohle
The aim of this study was to compare sperm DNA damage between men with a history of congenital undescended testis (UDT) and men with a history of acquired UDT. A long-term follow-up study of men with previous UDT was performed. Fifty men with congenital UDT who had undergone orchiopexy at childhood age, 49 men with acquired UDT after a 'wait-and-see'-protocol (e.g. awaiting spontaneous descent until puberty and perform an orchiopexy in case of non-decent), and 22 healthy proven fertile men were included. The DNA fragmentation index (DFI) using sperm chromatin structure assay (SCSA) was used to express the level of sperm DNA damage...
June 21, 2017: Andrology
https://www.readbyqxmd.com/read/28633714/three-generation-family-with-congenital-central-hypoventilation-syndromeand-novel-phox2b-gene-non-polyalanine-repeat-mutation
#12
Ajay S Kasi, Taryn J Jurgensen, Stephanie Yen, Sheila S Kun, Thomas G Keens, Iris A Perez
PHOX2B non-polyalanine repeat mutation (NPARM) in patients with congenital central hypoventilation syndrome (CCHS) is generally considered to beassociated with full-time ventilator dependence and severe autonomic nervous system dysfunction. We report a three-generation family with four individualspossessing a novel PHOX2B NPARM (c.245C > T) with variable phenotypes. This mutation was inherited in an autosomal dominant pattern with variablepenetrance. The affected family members with CCHS have a milder phenotype than is typically expected with a NPARM...
June 16, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28632654/an-overview-of-cardiac-computed-tomography-in-adults-with-congenital-heart-disease
#13
Pal Suranyi, Akos Varga-Szemes, Anthony M Hlavacek
Familiarity with congenital heart disease (CHD) and its manifestations in adults is becoming increasingly important for the practicing cardiothoracic imager. The use of computed tomographic angiography is becoming commonplace not only in adults with a history and subsequent interventions for CHD as a child but also in de novo detection of-typically-milder, survivable forms of CHD, which are clinically suspected because of declining cardiac performance, cardiac events, or murmurs. Occasionally, adult CHD (ACHD) is found incidentally on scans performed for other indications (eg, trauma or neoplasm staging) because of improvements in computed tomographic technology and advanced visualization...
July 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28632653/imaging-adults-with-congenital-heart-disease-part-ii-advanced-cmr-techniques
#14
Anurag Sahu, Timothy C Slesnick
Because of great strides in medical care, survival into adulthood has become a common expectation in patients suffering from nearly all forms of congenital heart disease. As this aging population expands, the utilization of cardiac magnetic resonance imaging in their care continues to grow. Magnetic resonance technology has developed exponentially over the last 2 decades, and several advanced techniques for imaging adults with congenital heart disease have moved from the purely research arena into routine clinical care...
July 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28632652/utility-of-cardiac-magnetic-resonance-imaging-in-the-management-of-adult-congenital-heart-disease
#15
Giuseppe Muscogiuri, Aurelio Secinaro, Paolo Ciliberti, Megan Fuqua, Arni Nutting
The increasing number of patients with adult congenital heart disease (ACHD) calls for the development of noninvasive imaging techniques that allow a long-term evaluation of native and postsurgical anatomy and function. Echocardiography remains the imaging modality of choice for congenital heart disease, but it is affected by limited acoustic windows and poor tissue characterization. Cardiac computed tomography and cardiac catheter angiography are 2 valid alternatives for the anatomic and functional assessment of ACHD; however, both use ionizing radiation, and cardiac catheter angiography requires an invasive approach...
July 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28632651/imaging-in-adult-congenital-heart-disease
#16
Stephanie S Gaydos, Akos Varga-Szemes, Rochelle N Judd, Pal Suranyi, David Gregg
There has been tremendous growth in the population of adults with congenital heart disease (CHD) over the last few decades because of advances in medical care. Whereas some cases are cured during childhood, most patients instead undergo palliation, which leaves them at risk for late complications. Lifelong clinical follow-up involving serial multimodality imaging is helpful to monitor and guide the treatment of late complications. Imaging of these individuals is challenging because of their unique anatomy and therefore requires careful consideration on a case-by-case basis...
July 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28632650/advanced-cardiac-imaging-in-adults-with-congenital-heart-disease-the-great-wave
#17
Anthony M Hlavacek, U Joseph Schoepf
No abstract text is available yet for this article.
July 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28629628/left-ventricular-outflow-tract-obstruction-and-its-impact-on-systolic-ventricular-function-and-exercise-capacity-in-adults-with-a-subaortic-right-ventricle
#18
Annina Stauber, Céline Wey, Matthias Greutmann, Daniel Tobler, Kerstin Wustmann, Andreas Wahl, Emanuela R Valsangiacomo Buechel, Matthias Wilhelm, Markus Schwerzmann
BACKGROUND: In biventricular hearts the filling and contractility of one ventricle affects the performance of the other. In this study, we compared right ventricular systolic function and exercise capacity in patients with a subaortic right ventricle (RV) in relation to the presence of a left ventricular outflow tract obstruction (LVOTO). METHODS: Retrospective chart review of adults with congenitally corrected transposition of the great arteries (ccTGA) or with a previous atrial switch procedure for complete TGA (D-TGA)...
June 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28628748/does-young-age-really-put-the-heart-at-risk
#19
Michael P Belanger, Luke Yang Tan, Carin Wittnich
Despite significant advances in the management and treatment of heart disease in children, there continue to be patients who have worse outcomes than might be expected. A number of risk factors that could be responsible have been identified. Evidence based findings will be reviewed including whether young age and/or reduced body weight exacerbate these responses. For example, newborn children undergoing congenital cardiac surgery are known to have worse outcomes than older children. Evidence exists that newborn hearts do not tolerate ischemia as well as adults; developing irreversible injury sooner and exhibiting at risk metabolic profiles...
June 19, 2017: Canadian Journal of Physiology and Pharmacology
https://www.readbyqxmd.com/read/28628610/outcome-of-cardiac-surgery-in-patients-with-congenital-heart-disease-in-england-between-1997-and-2015
#20
Aleksander Kempny, Konstantinos Dimopoulos, Anselm Uebing, Gerhard-Paul Diller, Ulrich Rosendahl, George Belitsis, Michael A Gatzoulis, Stephen J Wort
BACKGROUND: The number of patients with congenital heart disease (CHD) is increasing worldwide and most of them will require cardiac surgery, once or more, during their lifetime. The total volume of cardiac surgery in CHD patients at a national level and the associated mortality and predictors of death associated with surgery are not known. We aimed to investigate the surgical volume and associated mortality in CHD patients in England. METHODS: Using a national hospital episode statistics database, we identified all CHD patients undergoing cardiac surgery in England between 1997 and 2015...
2017: PloS One
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