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https://www.readbyqxmd.com/read/28544839/isolated-right-ventricular-apical-trabecular-hypoplasia-a-case-report
#1
Qi Tan, Jie Zi, Mei Zhu, Anbiao Wang
Right ventricular (RV) hypoplasia with isolated myocardial disease and complete absence of RV trabeculae is a rare congenital heart disease, the current treatment of which is ineffective. Here, a rare case is presented of a middle-aged female patient with RV hypoplasia complicated by tricuspid regurgitation, right atrial thrombus, and atrial fibrillation. The patient was treated with a one-and-a-half ventricular repair, and showed significant improvements in cardiac function and physical activity tolerance...
January 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28544787/analysis-of-adults-with-congenital-heart-disease-presenting-to-pediatric-emergency-departments-with-arrhythmias
#2
Shaun Mohan, Brady S Moffett, Wilson Lam, Caridad de la Uz, Christina Miyake, Santiago O Valdes, Jeffrey J Kim
OBJECTIVE: As survivors of congenital heart disease (CHD) continue to age, healthcare utilization by this population has increased. It is unknown how often these patients utilize the emergency department (ED) at children's hospitals and how arrhythmias play a role in their utilization of care. DESIGN: Using a retrospective cohort design, the Pediatric Hospital Information System (PHIS) database was investigated and we studied adults (≥18 years) with CHD (ACHD) who presented to pediatric EDs from 2004 to 2014...
May 22, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28542403/ghrelin-modulates-testicular-damage-in-a-cryptorchid-mouse-model
#3
Enrica Bianchi, Kim Boekelheide, Mark Sigman, Susan J Hall, Kathleen Hwang
Cryptorchidism or undescended testis (UDT) is a common congenital abnormality associated with increased risk for developing male infertility and testicular cancer. This study elucidated the effects of endogenous ghrelin or growth hormone secretagogue receptor (GHSR) deletion on mouse reproductive performance and evaluated the ability of ghrelin to prevent testicular damage in a surgical cryptorchid mouse model. Reciprocal matings with heterozygous/homozygous ghrelin and GHSR knockout mice were performed. Litter size and germ cell apoptosis were recorded and testicular histological evaluations were performed...
2017: PloS One
https://www.readbyqxmd.com/read/28541122/chance-of-surgery-in-adult-congenital-heart-disease
#4
Carianne L Verheugt, Cuno Spm Uiterwaal, Ilonca Vaartjes, Enno T van der Velde, A C Zomer, Folkert J Meijboom, Petronella G Pieper, Marco C Post, Hubert W Vliegen, Mark G Hazekamp, Diederick E Grobbee, Barbara Jm Mulder
Background Young patients with congenital heart disease reaching adulthood face mandatory transition to adult cardiology. Their new cardiologist needs to assess the chances of major future events such as surgery. Using a large national registry, we assessed if patient characteristics at the age of 18 years could predict the chance of congenital heart surgery in adulthood. Design and methods Of 10,300 patients from the CONCOR national registry, we used general patient characteristics at age 18 years, underlying congenital heart defect, history of complications, and interventions in childhood as potential predictors of congenital heart surgery occurring from age 18 years up to age 40 and 60 years...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28539399/using-theoretical-models-from-adult-stroke-recovery-to-improve-use-of-non-invasive-brain-stimulation-for-children-with-congenital-hemiparesis
#5
Yin-Liang Lin, Kelsey A Potter-Baker
Non-invasive brain stimulation has been widely used for adults with stroke to improve upper limb motor function. A recent study by Kirton and colleagues (Kirton A, Ciechanski P, Zewdie E et al. Neurology 2017, doi: 10.1212/WNL.0000000000003518) applied non-invasive brain stimulation to children with congenital hemiparesis but found no significant effect of non-invasive brain stimulation on motor function. Here, we explore theories about cortical reorganization in both adult and children with hemiparesis and discuss how to improve the approaches of non-invasive brain stimulation to generate optimal motor improvement and development for children with congenital hemiparesis...
May 24, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28537999/imaging-the-adult-with-transposition-of-the-great-arteries
#6
Jason H Anderson, Frank Cetta
PURPOSE OF REVIEW: Patients with complete and congenitally corrected transposition of the great arteries commonly survive into adulthood and present with a vast array of clinical residua. RECENT FINDINGS: Echocardiography remains the primary imaging modality in the routine assessment of the adult with transposition of the great arteries. It provides a comprehensive anatomic and hemodynamic evaluation. Limitations to echocardiography include evaluation of the following: the systemic right ventricle, baffle patency following atrial switch procedure, coronary arteries following arterial switch procedure or Nikadoh, and multilevel right ventricular outflow tract obstruction...
May 19, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28536766/pediatric-radiology-malpractice-claims-characteristics-and-comparison-to-adult-radiology-claims
#7
REVIEW
Micheál A Breen, Kathy Dwyer, Winnie Yu-Moe, George A Taylor
Medical malpractice is the primary method by which people who believe they have suffered an injury in the course of medical care seek compensation in the United States and Canada. An increasing body of research demonstrates that failure to correctly diagnose is the most common allegation made in malpractice claims against radiologists. Since the 1994 survey by the Society of Chairmen of Radiology in Children's Hospitals (SCORCH), no other published studies have specifically examined the frequency or clinical context of malpractice claims against pediatric radiologists or arising from pediatric imaging interpretation...
June 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28534239/analysis-of-screening-electrocardiogram-for-the-subcutaneous-defibrillator-in-adults-with-congenital-heart-disease
#8
Vincent C Thomas, Mark Peterson, Martin McDaniel, Humberto Restrepo, Abraham Rothman, Amit Jain
Candidates for the subcutaneous implantable cardioverter-defibrillator (S-ICD) are screened using an electrocardiogram (S-ECG) tool to measure appropriate detection. We sought to define the S-ICD candidacy of congenital heart disease patients using the S-ECG tool. We also analyzed the reliability of the (S-ECG) tool between measurers in this population. Patients above the age of 12 and with a diagnosis associated with either a higher incidence of cardiac arrest or vascular access challenges were asked to undergo screening...
May 22, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28529538/emergency-surgery-due-to-diaphragmatic-hernia-case-series-and-review
#9
REVIEW
Mario Testini, Antonia Girardi, Roberta Maria Isernia, Angela De Palma, Giovanni Catalano, Angela Pezzolla, Angela Gurrado
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a congenital abnormality, rare in adults with a frequency of 0.17-6%. Diaphragmatic rupture is an infrequent consequence of trauma, occurring in about 5% of severe closed thoraco-abdominal injuries. Clinical presentation ranges from asymptomatic cases to serious respiratory or gastrointestinal symptoms. Diagnosis depends on anamnesis, clinical signs and radiological investigations. METHODS: From May 2013 to June 2016, six cases (four females, two males; mean age 58 years) of diaphragmatic hernia were admitted to our Academic Department of General Surgery with respiratory and abdominal symptoms...
2017: World Journal of Emergency Surgery: WJES
https://www.readbyqxmd.com/read/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#10
Xiong Yang, Su Feng, Ke Tang
COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28523852/preparing-adolescents-with-heart-problems-for-transition-to-adult-care-2009-2010-national-survey-of-children-with-special-health-care-needs
#11
Karrie F Downing, Matthew E Oster, Sherry L Farr
OBJECTIVE: A substantial percentage of children with congenital heart disease (CHD) fail to transfer to adult care, resulting in increased risk of morbidity and mortality. Transition planning discussions with a provider may increase rates of transfer, yet little is known about frequency and content of these discussions. We assessed prevalence and predictors of transition-related discussions between providers and parents of children with special healthcare needs (CSHCN) and heart problems, including CHD...
May 19, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28523540/rubinstein-taybi-syndrome-and-epigenetic-alterations
#12
Edward Korzus
Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder in humans characterized by growth and psychomotor delay, abnormal gross anatomy, and mild to severe mental retardation (Rubinstein and Taybi, Am J Dis Child 105:588-608, 1963, Hennekam et al., Am J Med Genet Suppl 6:56-64, 1990). RSTS is caused by de novo mutations in epigenetics-associated genes, including the cAMP response element-binding protein (CREBBP), the gene-encoding protein referred to as CBP, and the EP300 gene, which encodes the p300 protein, a CBP homologue...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28523454/stigma-associated-with-classical-congenital-adrenal-hyperplasia-in-women-s-sexual-lives
#13
Heino F L Meyer-Bahlburg, Jananne Khuri, Jazmin Reyes-Portillo, Anke A Ehrhardt, Maria I New
The risk of intersex-related stigma often serves as social indication for "corrective" genital surgery, but has not been comprehensively documented. In preparation for the development of an intersex-specific stigma assessment tool, this qualitative project aimed to explore stigma in girls and women with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. As part of a comprehensive follow-up project, 62 adult women with classical CAH (age range 18-51 years) took part in an open-ended retrospective interview focusing on the impact of CAH and its treatment on various aspects of girls' and women's lives...
May 18, 2017: Archives of Sexual Behavior
https://www.readbyqxmd.com/read/28523200/an-unusual-presentation-of-congenital-lobar-emphysema
#14
Daniel Arnaud, Joseph Varon, Salim Surani
Congenital lobar emphysema is an uncommon bronchopulmonary malformation characterized by lobar overinflation and accompanying alveolar septum damage that leads to compression atelectasis of the lung parenchyma and displacement of mediastinal structures, with the resultant ventilation-perfusion mismatch. We present a case of a 33-year-old lady with progressive exertional dyspnea. Chest radiograph findings lead to the suspicion of congenital lobar emphysema, which was then confirmed by a computed tomography (CT) scan...
2017: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/28523142/quality-of-life-an-underutilized-patient-reported-outcome-for-adults-with-congenital-heart-disease
#15
EDITORIAL
Sameh M Said, Joseph A Dearani
No abstract text is available yet for this article.
April 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28521893/pulmonary-hypertension-in-infants-children-and-young-adults
#16
REVIEW
Georg Hansmann
Pulmonary hypertension (PH) in neonates, infants, children, adolescents, and young adults is a complex condition that can be associated with several cardiac, pulmonary, and systemic diseases contributing to morbidity and mortality. The underlying pulmonary hypertensive vascular disease (PHVD) is characterized by inflammation, pulmonary vascular remodeling, and angio-obliteration leading to elevated pulmonary arterial pressure and resistance, right ventricular dysfunction, left ventricular compression, and subsequent heart failure...
May 23, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28520541/outcomes-and-prognostic-factors-for-adult-patients-with-congenital-heart-disease-undergoing-primary-or-reoperative-systemic-atrioventricular-valve-surgery
#17
Elizabeth H Stephens, Jiho Han, Jonathan Ginns, Marlon Rosenbaum, Paul Chai, Emile Bacha, David Kalfa
BACKGROUND: Adults with congenital heart disease (ACHD) undergoing systemic atrioventricular valve (SAVV) surgery are a complex, understudied population. We assessed midterm outcomes and prognostic factors in ACHD undergoing SAVV surgery. METHODS: We performed retrospective evaluation of ACHD undergoing SAVV surgery from January 2005 to February 2016: 14 (33%) patients with congenital mitral valve stenosis/regurgitation, 15 (35%) with atrioventricular septal defect (AVSD), and 14 (33%) with congenitally corrected transposition of the great arteries (ccTGA) with systemic tricuspid valve regurgitation...
May 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28518124/direct-re-implantation-of-left-coronary-artery-into-the-aorta-in-adults-with-anomalous-origin-of-left-coronary-artery-from-the-pulmonary-artery-alcapa
#18
Reza Tavakoli, Peiman Jamshidi, Nassrin Yamani, Max Gassmann
Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital anomaly which is one of leading causes of myocardial ischemia and infarction in children. If left untreated, it results in a 90% mortality rate in the first year of life. In patients who survive to the adulthood, the coronary steal phenomenon and retrograde left-sided coronary flow provide a substrate for chronic subendocardial ischemia, which may lead to left ventricular dysfunction, ischemic mitral regurgitation, malignant ventricular arrhythmias, and sudden cardiac death...
April 24, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28517030/gerbode-defect-and-multivalvular-dysfunction-complex-complications-in-adult-congenital-heart-disease
#19
Catarina Ruivo, Joana Guardado, Fernando Montenegro Sá, Fátima Saraiva, Alexandre Antunes, Joana Correia, João Morais
We report a clinical case of a 40-year-old male with surgically corrected congenital heart disease (CHD) 10 years earlier: closure of ostium primum, mitral annuloplasty, and aortic valve and root surgery. The patient was admitted with acute heart failure. Transesophageal echocardiography (TEE) revealed a dysmorphic and severely incompetent aortic valve, a partial tear of the mitral valve cleft repair and annuloplasty ring dehiscence. A true left ventricular-to-right atrial shunt confirmed a direct Gerbode defect...
May 18, 2017: Echocardiography
https://www.readbyqxmd.com/read/28512408/cytoreductive-surgery-followed-by-hyperthermic-intraperitoneal-chemotherapy-for-recurrent-ovarian-cancer-with-incidental-bochdalek-hernia-and-postoperative-bilateral-thalamic-infarct-a-case-report
#20
Ilker Kahramanoglu, Hasan Turan, Ece Yamak Altinpulluk, Zahid Mammadov, Tugan Bese, Macit Arvas, Fuat Demirkiran
Congenital Bochdalek hernia is a defect of the diaphragm and very rare in adults. Only around 100 cases have been reported in the literature. Herein, we present a case with a recurrent ovarian cancer who underwent secondary cytoreductive surgery and hyperthermic intraperitoneal chemotherapy. An oval defect with dimensions of 3 × 4 cm was seen in the left posterolateral site of the diaphragm during surgical exploration. In addition, a 6 × 3 cm iatrogenic right-sided diaphragmatic defect was found and repaired...
January 2017: Case Reports in Oncology
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