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adult congenital

B K Singleton, M Ahmed, C A Green, H Heimpel, M J Woźniak, L Ranjha, F Seeney, A Bomford, P Mehta, A Guest, R Mushens, M-J King
BACKGROUND: Bone marrow examination has been the confirmatory test for congenital dyserythropoietic anemia type II (CDAII). Occasional spherocytes on peripheral blood smear can confound the diagnosis. Since a screening test is still unavailable, we explored the feasibility of using flow cytometry as a preliminary screening method. METHODS: Thirteen monoclonal antibodies with specificities for eight erythrocyte membrane proteins were used in FACS analysis to probe the cellular features of red cells from CDAII, normal adults, hereditary spherocytosis (HS), and cord red cells...
October 26, 2016: Cytometry. Part B, Clinical Cytometry
Mark R Schleiss
Congenital cytomegalovirus (CMV) infection is the most common infectious cause of disability in newborn infants. CMV also causes serious disease in solid organ (SOT) and haematopoietic stem cell transplant (HSCT) recipients. In otherwise healthy children and adults, primary CMV infection rarely causes illness. However, even asymptomatic CMV infections may predispose an individual towards an increased risk of atherosclerosis, cancer and immune senescence over the life course, although such associations remain controversial...
October 5, 2016: Journal of Virus Eradication
Christopher Ballmann, Yawen Tang, Zachary Bush, Glenn C Rowe
Exercise has been shown to be the best intervention in the treatment of many diseases. Many of the benefits of exercise are mediated by adaptions induced in skeletal muscle. The peroxisome proliferator-activated receptor gamma coactivator-1 (PGC-1) family of transcriptional coactivators has emerged as being key mediators of the exercise response and is considered to be essential for many of the adaptions seen in skeletal muscle. However, the contribution of the PGC-1s in skeletal muscle has been evaluated by the use of either whole body or congenital skeletal muscle-specific deletion...
October 25, 2016: American Journal of Physiology. Endocrinology and Metabolism
Douglas Y Mah, Divya Shakti, Kimberlee Gauvreau, Steven D Colan, Mark E Alexander, Dominic J Abrams, David W Brown
Left atrial (LA) dilation has been shown to be associated with atrial fibrillation (AF) in the adult population, with some studies indicating that larger LAs are more prone to AF recurrence. The relation of LA size to AF in the pediatric and young adult population has not been investigated. In this study, all pediatric patients (aged ≤22 years) who presented to Boston Children's Hospital from January 2002 to December 2012 with AF were reviewed. Patients with significant congenital heart disease, cardiomyopathies, proven channelopathies, previous cardiac surgery, end-stage renal disease, or severe lung disease/cystic fibrosis were excluded...
September 30, 2016: American Journal of Cardiology
C Schwarze-Zander, R Draenert, C Lehmann, M Stecher, C Boesecke, S Sammet, J C Wasmuth, U Seybold, D Gillor, U Wieland, T Kümmerle, C P Strassburg, A Mankertz, A M Eis-Hübinger, G Jäger, G Fätkenheuer, J R Bogner, J K Rockstroh, J J Vehreschild
Measles, mumps, rubella (MMR) and varicella zoster virus (VZV) infection can cause serious diseases and complications in the HIV-positive population. Due to successful vaccination programmes measles, mumps and congenital rubella syndrome has become neglected in Germany. However, recent outbreaks of measles have occurred from import-associated cases. In this cross-sectional study the serostatus for MMR and VZV in 2013 HIV-positive adults from three different university outpatient clinics in Bonn (n = 544), Cologne (n = 995) and Munich (n = 474) was analysed...
October 26, 2016: Epidemiology and Infection
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
Suzanne J O'Gara, Helen E Cullington, Mary L Grasmeder, Maria Adamou, Emily S Matthews
OBJECTIVES: To identify factors preimplantation associated with postimplantation speech perception improvement in the adult congenitally deaf population. DESIGN: Forty-four adult cochlear implant (CI) patients who had a severe to profound hearing loss from birth were identified from this centre's database. Eight preimplantation factors, speech intelligibility, preimplantation hearing levels, communication mode, preimplantation speech perception scores, progression of hearing loss, age at implantation, hearing aid use preimplantation, and gender, were recorded during the CI assessment process...
November 2016: Ear and Hearing
Marco Astengo, Caroline Berntsson, Åse A Johnsson, Peter Eriksson, Mikael Dellborg
OBJECTIVE: Coarctation of the aorta (CoA) is a common condition. Adult patients with newly diagnosed CoA and patients with recurring or residual CoA require evaluation of the severity of aortic obstruction. Cardiac catheterization is considered the gold standard for the evaluation of hemodynamically significant CoA. The European Society of Cardiology (ESC) Guidelines for the management of grown-up congenital heart disease (GUCH) include noninvasive criteria for identifying significant CoA...
October 25, 2016: Congenital Heart Disease
S Salas, T Agut, C Rovira, D Canizo, C Lavarino, A Garcia-Alix
INTRODUCTION: Congenital glioblastoma multiforme represents only 3% of congenital central nervous system tumours and an infratentorial location is unusual. CASE REPORT: A newborn with congenital glioblastoma multiforme with no mutation in the TP53 gene or p53 nuclear immunoreactivity that infiltrated practically the whole brainstem and also invaded supratentorial structures. CONCLUSIONS: As far as we know, only four cases with an infratentorial location have been reported previously, three in the cerebellum and one in the brainstem...
November 1, 2016: Revista de Neurologia
Mock Ryeon Kim, Hye Won Park, Sochung Chung
In adults, hypothyroidism caused by thyroid stimulation blocking antibody (TSB Ab) is rare, and confirmed cases are even fewer, as TSB Ab levels are rarely assayed. However, this may create problems in babies, as the transplacental passage of maternal TSB Ab can cause a rare type of hypothyroidism in the infant. Prompt levothyroxine replacement for the baby starting immediately after birth is important. We describe a congenital hypothyroid baby born to a hypothyroid mother who was not aware of the cause of her hypothyroid condition, which turned out to be associated with the expression of TSB Ab...
September 2016: Annals of Pediatric Endocrinology & Metabolism
Masih Tajdini, Akram Sardari, Seyed Khalil Forouzannia, Abdolvahab Baradaran, Seyed Mohammad Reza Hosseini, Seyed Ebrahim Kassaian
Interrupted aortic arch is a rare congenital abnormality with a high infancy mortality rate. The principal finding is loss of luminal continuity between the ascending and descending portions of the aorta. Because of the high mortality rate in infancy, interrupted aortic arch is very rare among adults. In this report, we describe the case of a 76-year-old woman with asymptomatic interrupted aortic arch, severe tricuspid regurgitation, and bicuspid aortic valve. To our knowledge, she is the oldest patient ever reported with this possibly unique combination of pathologic conditions...
October 2016: Texas Heart Institute Journal
Wilson W Lam
No abstract text is available yet for this article.
October 2016: Texas Heart Institute Journal
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
Aleksei A Filippov, Pedro J Del Nido, Nikolay V Vasilyev
In recent decades, significant progress has been made in the diagnosis and management of congenitally corrected transposition of the great arteries (ccTGA). Nevertheless, gradual dysfunction and failure of the right ventricle (RV) in the systemic circulation remain the main contributors to mortality and disability for patients with ccTGA, especially after adolescence. Anatomic repair of ccTGA effectively resolves the problem of failure of the systemic RV and has good early and midterm results. However, this strategy is applicable primarily in infants and children up to their teens and has associated risks and limitations, and new challenges can arise in the late postoperative period...
October 25, 2016: Circulation
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
Chao-Ying Chen, Tonya L Rich, Jessica M Cassidy, Bernadette T Gillick
Transcranial magnetic stimulation (TMS) can be used as an assessment or intervention to evaluate or influence brain activity in children with hemiparetic cerebral palsy (CP) commonly caused by perinatal stroke. This communication report analyzed data from two clinical trials using TMS to assess corticospinal excitability in children and young adults with hemiparetic CP. The results of this communication revealed a higher probability of finding a motor evoked potential (MEP) on the non-lesioned hemisphere compared to the lesioned hemisphere (p = 0...
October 20, 2016: Brain Sciences
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
Neeraj Awasthy, Ria Garg, S Radhakrishnan, Savitri Shrivastava
: Balloon aortic valvuloplasty (BAV) is a well accepted modality of treatment in congenital aortic stenosis in all age groups. Although in infants and children it is the modality of choice, in adolescents and young adults, it is of debatable efficacy. AIM: To evaluate long-term results of aortic valvuloplasty particularly in adolescent and adults (>12 years) and compare the outcome in other age groups that are <1 year and between 1 are 11 years. SETTING: Tertiary referral center...
September 2016: Indian Heart Journal
Teresa V Mitchell
Deafness is known to affect processing of visual motion and information in the visual periphery, as well as the neural substrates for these domains. This study was designed to characterize the effects of early deafness and lifelong sign language use on visual category sensitivity of the N170 event-related potential. Images from nine categories of visual forms including upright faces, inverted faces, and hands were presented to twelve typically hearing adults and twelve adult congenitally deaf signers. Classic N170 category sensitivity was observed in both participant groups, whereby faces elicited larger amplitudes than all other visual categories, and inverted faces elicited larger amplitudes and slower latencies than upright faces...
October 19, 2016: Hearing Research
Lijiang Ma, Wendy K Chung
Group 1 pulmonary hypertension or pulmonary arterial hypertension (PAH) is a rare disease characterized by proliferation and occlusion of small pulmonary arterioles, leading to progressive elevation of pulmonary artery pressure and pulmonary vascular resistance, and right ventricular failure. Historically it has been associated with a high mortality rate, although over the last decade, treatment has improved survival. PAH includes idiopathic PAH (IPAH), heritable PAH (HPAH), and PAH associated with certain medical conditions...
October 22, 2016: Journal of Pathology
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