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https://www.readbyqxmd.com/read/29054432/expression-pattern-of-eya4-in-the-common-marmoset-callithrix-jacchus-cochlea
#1
Saeko Matsuzaki, Makoto Hosoya, Hideyuki Okano, Masato Fujioka, Kaoru Ogawa
The eyes absent (EYA)-like genes are essential for the formation of sensory organs among fly (Drosophila melanogaster) and mammals. EYA4, one of the vertebrate genes of Eya family, is reported to be causative for late-onset mid-frequency sensorineural hearing loss in humans, while Eya4-deficient mice exhibited congenital profound deafness and otitis media with effusion due to the eustachian tube dysmorphology. Because of the species difference in the phenotype, the pathophysiology of EYA4 in the human cochlea has yet to be elucidated...
October 17, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29054387/the-post-natal-development-of-intraocular-pressure-in-normal-domestic-cats-felis-catus-and-in-feline-congenital-glaucoma
#2
Sara Adelman, Daniel Shinsako, Julie A Kiland, Vincent Yaccarino, N Matthew Ellinwood, Gil Ben-Shlomo, Gillian J McLellan
Intraocular pressure (IOP) is the most consistent risk factor for progressive vision loss in glaucoma. Cats with recessively inherited feline congenital glaucoma (FCG) exhibit elevated IOP with gradual, painless progression of glaucoma similar to humans and are studied as a model of glaucoma in humans and animals. Here, post-natal development of IOP was characterized in normal domestic cats and in cats with FCG caused by a homozygous LTBP2 mutation. Rebound tonometry (TonoVet(®), ICare Oy, Finland) was used to measure IOP non-invasively, 2-3 times weekly in 63 FCG and 33 normal kittens, of both sexes, from eyelid opening until 3-6 months of age...
October 17, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/29054305/scimitar-syndrome-in-children-and-adults-natural-history-outcomes-and-risk-analysis
#3
Hanjay Wang, David Kalfa, Marlon S Rosenbaum, Jonathan N Ginns, Matthew J Lewis, Julie S Glickstein, Emile A Bacha, Paul J Chai
BACKGROUND: Scimitar syndrome involves congenital anomalous pulmonary venous return to the inferior vena cava. Optimal management remains controversial. We describe the natural history of disease, nonsurgical and surgical outcomes, and risk factors for poor outcomes at our institution. METHODS: Patients with anomalous pulmonary venous return to the inferior vena cava documented on echocardiography at our institution between January 1994 and January 2015 were reviewed retrospectively...
October 18, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29054235/acquired-cor-triatriatum-sinister-after-the-fontan-operation-and-successful-resection-in-a-child
#4
S Javed Zaidi, Rishi R Adhikari, Chawki El-Zein, Saad Siddiqui
Cor triatriatum sinister is a rare congenital lesion encountered in children. It consists of a fibromuscular membrane that separates the left atrium into two chambers resulting in a triatrial heart and often occurs with other structural cardiac anomalies. The acquired form is uncommon and has only been reported after orthotopic heart transplantation or as a complication of infective endocarditis in adults. These cases were mostly because of hypertrophied atrial tissue or suture lines and torsion of the atrium...
November 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29054230/near-complete-obliteration-of-the-left-hemithorax-by-congenital-lobar-emphysema-in-an-adult
#5
Nakesha King, Shilpa S Ramesh, Michael Essandoh, Robert E Merritt
Congenital lobar emphysema is a rare pulmonary malformation typically diagnosed during infancy and is characterized by bullous disease. A 28-year-old woman, who presented with 1 week of progressive dyspnea and chest pain, was found to have left hemithoracic lung hyperinflation with perfusion deficit upon radiographic evaluation. Bullous disease was found intraoperatively to originate from 1 lower lobe segment. Normal parenchymal lung expansion occurred following resection of the affected segment. Therefore, we present a rare case of congenital lobar emphysema resulting in near-complete occupancy of the left hemithorax and diagnosed in a previously asymptomatic adult without history of predisposing factors...
November 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29052036/rapidly-increasing-incidence-in-scoliosis-surgery-over-14%C3%A2-years-in-a-nationwide-sample
#6
Johan von Heideken, Maura D Iversen, Paul Gerdhem
PURPOSE: Severe scoliosis is primarily managed with surgery. This cohort study describes the incidence of surgically treated scoliosis among Swedish youth and young adults, stratified by age, sex, scoliosis type, and surgical approach and identifies changes in incidence rate and hospital length of stay (LOS), infections requiring re-surgery and mortality within 90 days. METHODS: Swedish youth, 0-21 years, (n = 3062) with a diagnostic code for scoliosis and spine surgery between 2000 and 2013 were selected from the National Patient Register...
October 19, 2017: European Spine Journal
https://www.readbyqxmd.com/read/29051804/review-of-recombinant-anti-haemophilic-porcine-sequence-factor-viii-in-adults-with-acquired-haemophilia-a
#7
REVIEW
Emma Fosbury, Anja Drebes, Anne Riddell, Pratima Chowdary
Acquired haemophilia A (AHA) is a rare, serious bleeding disorder most often encountered in elderly patients. The mainstay of haemostatic management is with bypassing agents (BPAs) including recombinant activated factor VII (rFVIIa) and activated prothrombin complex concentrates (aPCCs). Their major limitation is incomplete efficacy, potential risk for thrombosis and the lack of routine laboratory assays for monitoring treatment response. Plasma-derived porcine FVIII (pd-pFVIII, Hyate C(®)), first used in the 1950s for the management of congenital haemophilia, has sufficient sequence homology to be haemostatic in humans, but the lack of complete homology facilitates efficacy even in the presence of human allo- and autoantibodies against human FVIII (hFVIII)...
September 2017: Therapeutic Advances in Hematology
https://www.readbyqxmd.com/read/29050847/anomalous-origin-of-the-left-coronary-artery-from-the-pulmonary-artery-presenting-in-adulthood-a-french-nationwide-retrospective-study
#8
Laura Le Berre, Alban-Elouen Baruteau, Alain Fraisse, Dominique Boulmier, Maria Jimenez, Bruno Gallet, Karine Warin Fresse, Jacques Mansourati, Patrice Guerin
Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital heart disease usually diagnosed during the first months of life. Without surgical treatment, ALCAPA carries a high mortality risk, and disease presentation in adulthood is rare. We describe the diagnosis and management of patients presenting with ALCAPA in adulthood. This multicenter French nationwide retrospective study included adult patients diagnosed from 1980 to 2014. Eleven adult patients (mean age: 38 ± 17 years) were analyzed...
August 25, 2017: Seminars in Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29049287/bbsome-function-is-required-for-both-the-morphogenesis-and-maintenance-of-the-photoreceptor-outer-segment
#9
Ying Hsu, Janelle E Garrison, Gunhee Kim, Addison R Schmitz, Charles C Searby, Qihong Zhang, Poppy Datta, Darryl Y Nishimura, Seongjin Seo, Val C Sheffield
Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic ciliopathy characterized by retinal degeneration, obesity, postaxial polydactyly, intellectual disability, and genital and renal abnormalities. To gain insight into the mechanisms of retinal degeneration in BBS, we developed a congenital knockout mouse of Bbs8, as well as conditional mouse models in which function of the BBSome (a protein complex that mediates ciliary trafficking) can be temporally inactivated or restored...
October 19, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29049186/combined-laparoscopic-and-open-technique-for-repair-of-congenital-abdominal-hernia-a-case-report-of-prune-belly-syndrome
#10
Qinghuang Ye, Yan Chen, Jinhui Zhu, Yuedong Wang
BACKGROUND: Prune belly syndrome (PBS) is a rare congenital disorder among adults, and the way for repairing abdominal wall musculature has no unified standard. MATERIALS AND METHODS: We described combining laparoscopic and open technique in an adult male who presented with PBS. Physical examination and radiological imaging verified the case of PBS. The deficiency of abdominal wall musculature was repaired by combining laparoscopic and open technique using a double-deck complex patch...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29049170/case-report-of-a-congenital-duodenal-transverse-septum-causing-partial-obstruction
#11
Xingjun Guo, Yahong Yu, Min Wang, Renyi Qin
INTRODUCTION: Duodenal obstructions caused by congenital anatomic abnormalities are rare in adults. Several patients in whom the duodenal obstruction was caused by a congenital duodenal diaphragm have been described. The duodenal obstruction in the patient presented herein was caused by a transverse septum, which has not been previously reported. A transverse septum is usually observed in the vagina; those involving the digestive tract have been rarely observed. CASE PRESENTATION: We herein report a case involving a 69-year-old woman with a congenital duodenal transverse septum causing partial obstruction...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29046517/a-rare-association-of-congenital-asplenia-with-jejunal-arteriovenous-malformation
#12
Jelena Z Arnautovic, Areej Mazhar, Stela Tereziu, Kashvi Gupta
BACKGROUND Isolated congenital asplenia is a poorly understood and rare form of primary immunodeficiency, often associated with life-threatening infections. CASE REPORT We encountered a unique case of a 22-year-old asplenic male who presented with severe iron-deficiency anemia secondary to occult gastrointestinal bleeding since age 15. Our extensive work-up confirmed jejunal arteriovenous malformations as the source of the bleed. Six months after the treatment, the patient has reported no further episodes of gastrointestinal bleeding and his hemoglobin has remained stable...
October 19, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29046220/electrocardiographic-recognition-of-right-ventricular-hypertrophy
#13
REVIEW
Kjell Nikus, Andrés Ricardo Pérez-Riera, Kaari Konttila, Raimundo Barbosa-Barros
The electrocardiogram (ECG) is a relatively insensitive tool for the detection of right ventricular hypertrophy (RVH), but some criteria have high specificity. The recommended ECG screening criteria for RVH are not sufficiently sensitive or specific for screening for mild RVH in adults without clinical cardiovascular disease. The greatest accuracy of the ECG is in congenital heart disease, with intermediate accuracy in acquired heart disease and primary pulmonary hypertension in adults.
September 10, 2017: Journal of Electrocardiology
https://www.readbyqxmd.com/read/29045289/genetic-origins-of-tetralogy-of-fallot
#14
Ari Morgenthau, William H Frishman
Due to improved survival and clinical outcomes, congenital heart disease is an area of growing importance within the medical community. As these patients reach adulthood and have children, there has been a growing appreciation for the increased risk of CHD among their offspring, strongly implying a genetic element. Given the growing wealth of genetic data available and these clinical implications, this review serves to re-examine the role of genetics within CHD, using Tetralogy of Fallot as a model pathology...
October 17, 2017: Cardiology in Review
https://www.readbyqxmd.com/read/29038332/gata-transcription-factors-in-testicular-adrenal-rest-tumours
#15
Manon Engels, Paul N Span, Rod T Mitchell, Joop J T M Heuvel, Monica A Marijnissen-van Zanten, Antonius Eduard van Herwaarden, Christina A Hulsbergen-van de Kaa, Egbert Oosterwijk, Nike M Stikkelbroeck, Lee B Smith, Fred C G J Sweep, Hedi L Claahsen-van der Grinten
Testicular adrenal rest tumours (TARTs) are benign adrenal-like testicular tumours that frequently occur in male patients with congenital adrenal hyperplasia. Recently, GATA transcription factors have been linked to the development of TARTs in mice. The aim of our study was to determine GATA expression in human TARTs and other steroidogenic tissues. We determined GATA expression in TARTs (n=16), Leydig cell tumours (LCTs; n=7), adrenal (foetal (n=6) + adult (n=10)), and testis (foetal (n=13) + adult (n=8))...
October 16, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/29037864/can-bladder-fibrosis-in-congenital-urinary-tract-obstruction-be-reversed
#16
REVIEW
Yu Tao Lu, Stine Julie Tingskov, Jens Christian Djurhuus, Rikke Nørregaard, L Henning Olsen
A variety of conditions exists in adults and children in which functional or anatomical urinary tract obstructions cause bladder fibrosis, which reduces the bladder's ability to store and empty urine. Current surgical procedures include removal of the obstructions to facilitate bladder emptying or prompt prenatal or postnatal spinal closure to prevent further neurogenic damage. Bladder fibrosis may occur, and it can get worse if a flow hindrance persists or deteriorates. Anti-fibrotic therapeutic strategies that target a variety of factors have been developed in animal models, but currently there are no anti-fibrotic therapies available for clinical use...
September 28, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29035753/toxic-inorganic-pollutants-in-foods-from-agricultural-producing-areas-of-southern-italy-level-and-risk-assessment
#17
Andrea Salvo, Giovanna Loredana La Torre, Valentina Mangano, Katia Erminia Casale, Giovanni Bartolomeo, Antonello Santini, Tiziano Granata, Giacomo Dugo
This study focused on the inorganic environmental contaminants in specific food products which form part of the food chain of the population residing in the area of Southern Italy (Gela) where there is a high mortality rate linked to tumor diseases and congenital malformations. Determination of toxic metals was performed by Inductively Coupled Plasma-Mass Spectrometry (ICP-MS). The toxicological data for every toxic element has been applied to evaluate the risk for the consumer by calculating the amount of potentially toxic element that would ingest an average of 60kg weight individual adult...
October 12, 2017: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/29035316/non-traditional-risk-factors-of-albuminuria-in-the-pediatric-population-a-scoping-review
#18
REVIEW
Erick Sierra-Diaz, Alfredo de Jesus Celis-de la Rosa, Felipe Lozano-Kasten, Alejandro Bravo-Cuellar, Mariana Garcia-Gutierrez, Hernandez-Flores Georgina
The presence of albumin in urine has been used for more than four decades as a marker of renal and cardiovascular damage. Most of the information on this marker is related to adults. The prevalence of albuminuria in the pediatric population has been reported as being 2.2-12.8% in some countries. Most research in this field is related to albuminuria and diseases, such as diabetes and hypertension. Using the methodology described by Arksey and O'Malley in 2005, a scoping review was carried out to show that the presence of albumin in urine in the pediatric population might be associated with environmental, demographic, congenital, infectious, and non-infectious factors...
October 16, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29033017/neurocognitive-and-psychological-outcomes-in-adults-with-dextro-transposition-of-the-great-arteries-corrected-by-the-arterial-switch-operation
#19
Leïla Kasmi, Johanna Calderon, Michèle Montreuil, Nikoletta Geronikola, Virginie Lambert, Emrè Belli, Damien Bonnet, David Kalfa
BACKGROUND: Neurodevelopmental impairments have frequently been described in children and adolescents with dextro-transposition of the great arteries (d-TGA). The arterial switch operation (ASO) to correct d-TGA has been used for more than 30 years, and more than 90% of these patients now reach adulthood. However, very little is known about their long-term functional outcomes. The present study investigated neurocognitive outcomes and the prevalence of psychiatric disorders in adults with d-TGA corrected by ASO...
October 12, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29031171/transverse-testicular-ectopia-with-inguinal-hernia-a-rare-case-report
#20
Shubhi Bhatnagar, Shahaji Chavan, Mahendra Bendre
INTRODUCTION: Transverse aberrant testicular maldescent is an extremely rare congenital anomaly characterized by the migration of one testicle towards the opposite inguinal canal. Mostly such cases are reported in children and they are very rarely seen in adults. PRESENTATION OF CASE: We report a case of a 24year old male patient with left reducible indirect inguinal hernia with absence of testis in the right hemiscrotum.On surgical exploration, the patient had both the testicles on the left side...
October 6, 2017: International Journal of Surgery Case Reports
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