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https://www.readbyqxmd.com/read/28098200/cullin-7-mediates-proteasomal-and-lysosomal-degradations-of-rat-eag1-potassium-channels
#1
Po-Hao Hsu, Yu-Ting Ma, Ya-Ching Fang, Jing-Jia Huang, Yu-Ling Gan, Pei-Tzu Chang, Guey-Mei Jow, Chih-Yung Tang, Chung-Jiuan Jeng
Mammalian Eag1 (Kv10.1) potassium (K(+)) channels are widely expressed in the brain. Several mutations in the gene encoding human Eag1 K(+) channel have been associated with congenital neurodevelopmental anomalies. Currently very little is known about the molecules mediating protein synthesis and degradation of Eag1 channels. Herein we aim to ascertain the protein degradation mechanism of rat Eag1 (rEag1). We identified cullin 7 (Cul7), a member of the cullin-based E3 ubiquitin ligase family, as a novel rEag1 binding partner...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28097609/a-case-of-a-quadricuspid-aortic-valve-identified-preoperatively-using-transthoracic-echocardiography
#2
Takanori Kono, Takeshi Oda, Keiichi Akaiwa, Katsuhiko Nakamura, Hiroyuki Tanaka
Quadricuspid aortic valve is an extremely rare congenital heart anomaly that often causes valve incompetence, requiring surgical intervention. Care must be taken to avoid surgical complications in patients with quadricuspid aortic valve; thus, preoperative diagnosis is important. A 76-year-old man presented with exertional dyspnea due to aortic regurgitation. Transthoracic and transesophageal echocardiography revealed severe aortic regurgitation caused by quadricuspid aortic valve. To avoid interference with the cardiac conduction system, we performed aortic valve replacement using an ingenious technique, in which pledgeted sutures on the accessory leaflet were placed from outside the sinus of Valsalva to above the aortic annulus...
January 18, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/28097523/intravascular-ultrasound-characterization-of-a-tissue-engineered-vascular-graft-in-an-ovine-model
#3
Victoria K Pepper, Elizabeth S Clark, Cameron A Best, Ekene A Onwuka, Tadahisa Sugiura, Eric D Heuer, Lilamarie E Moko, Shinka Miyamoto, Hideki Miyachi, Darren P Berman, Sharon L Cheatham, Joanne L Chisolm, Toshiharu Shinoka, Christopher K Breuer, John P Cheatham
Patients who undergo implantation of a tissue-engineered vascular graft (TEVG) for congenital cardiac anomalies are monitored with echocardiography, followed by magnetic resonance imaging or angiography when indicated. While these methods provide data regarding the lumen, minimal information regarding neotissue formation is obtained. Intravascular ultrasound (IVUS) has previously been used in a variety of conditions to evaluate the vessel wall. The purpose of this study was to evaluate the utility of IVUS for evaluation of TEVGs in our ovine model...
January 17, 2017: Journal of Cardiovascular Translational Research
https://www.readbyqxmd.com/read/28097362/folic-acid-supplementation-for-the-prevention-of-neural-tube-defects-us-preventive-services-task-force-recommendation-statement
#4
Kirsten Bibbins-Domingo, David C Grossman, Susan J Curry, Karina W Davidson, John W Epling, Francisco A R García, Alex R Kemper, Alex H Krist, Ann E Kurth, C Seth Landefeld, Carol M Mangione, William R Phillips, Maureen G Phipps, Michael P Pignone, Michael Silverstein, Chien-Wen Tseng
Importance: Neural tube defects are among the most common major congenital anomalies in the United States and may lead to a range of disabilities or death. Daily folic acid supplementation in the periconceptional period can prevent neural tube defects. However, most women do not receive the recommended daily intake of folate from diet alone. Objective: To update the 2009 US Preventive Services Task Force (USPSTF) recommendation on folic acid supplementation in women of childbearing age...
January 10, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28097361/folic-acid-supplementation-for-the-prevention-of-neural-tube-defects-an-updated-evidence-report-and-systematic-review-for-the-us-preventive-services-task-force
#5
Meera Viswanathan, Katherine A Treiman, Julia Kish-Doto, Jennifer C Middleton, Emmanuel J L Coker-Schwimmer, Wanda K Nicholson
Importance: Neural tube defects are among the most common congenital anomalies in the United States. Periconceptional folic acid supplementation is a primary care-relevant preventive intervention. Objective: To review the evidence on folic acid supplementation for preventing neural tube defects to inform the US Preventive Services Task Force for an updated Recommendation Statement. Data Sources: MEDLINE, Cochrane Library, EMBASE, and trial registries through January 28, 2016, with ongoing surveillance through November 11, 2016; references; experts...
January 10, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28096840/video-assisted-thoracoscopic-surgery-vats-right-upper-lobectomy-for-non-small-cell-lung-cancer-with-an-azygos-lobe
#6
Ozgur Samancilar, Tevfik İlker Akçam, Seyda Ors Kaya, Serpil Sevinc, Onur Akcay, Kenan Can Ceylan
Although it is not a pathologically significant entity, cases of azygos lobe (AL) are interesting due to the difficulty of performing video-assisted thoracoscopic surgery (VATS) procedures in the affected patients and the presence of a congenital malformation. Currently, videothoracoscopic surgery has advanced to such a level that most thoracic procedures can be performed with video assistance. However, some technical difficulties may arise in cases with anatomical anomalies such as AL. This report presents the case of a patient with an azygos lobe who underwent videothoracoscopic lung resection due to the presence of non-small-cell lung carcinoma in the upper lobe of the right lung...
December 2016: Kardiochirurgia i Torakochirurgia Polska, Polish Journal of Cardio-Thoracic Surgery
https://www.readbyqxmd.com/read/28096838/a-rare-case-of-myocardial-bridge-involving-left-anterior-descending-obtuse-marginal-and-ramus-intermediate-coronary-arteries
#7
Tuncay Kiris, Diyar Koprulu, Muzaffer Elmali, Gonul Zeren, Guney Erdogan
Myocardial bridging, a congenital coronary anomaly, is a cluster of myocardial fibers crossing over the epicardial coronary arteries. It is most frequently seen in the left anterior descending artery (LAD), and rarely involves the circumflex (CX) and right coronary artery (RCA). We report a patient with an unusual coronary bridge crossing over the left anterior descending, obtuse marginal and ramus intermediate branches. The patient presented with exercise-induced angina pectoris that was relieved with medical therapy...
December 2016: Kardiochirurgia i Torakochirurgia Polska, Polish Journal of Cardio-Thoracic Surgery
https://www.readbyqxmd.com/read/28094679/a-retrospective-analysis-of-a-pediatric-tele-echocardiography-service-to-treat-triage-and-reduce-trans-pacific-transport
#8
Christopher A Rouse, Brandon T Woods, C Becket Mahnke
Introduction Tele-echocardiography can ensure prompt diagnosis and prevent the unnecessary transport of infants without critical congenital heart disease, particularly at isolated locations lacking access to tertiary care medical centers. Methods We retrospectively reviewed all infants who underwent tele-echocardiography at a remote 16-bed level IIIB NICU from June 2005 to March 2014. Tele-echocardiograms were completed by cardiac sonographers in Okinawa, Japan, and transmitted asynchronously for review by pediatric cardiologists in Hawaii...
January 1, 2017: Journal of Telemedicine and Telecare
https://www.readbyqxmd.com/read/28094152/use-of-3d-printer-technology-to-facilitate-surgical-correction-of-a-complex-vascular-anomaly-with-esophageal-entrapment-in-a-dog
#9
A Dundie, G Hayes, P Scrivani, L Campoy, D Fletcher, K Ash, E Oxford, N S Moïse
A 10 week old female intact Staffordshire terrier was presented with a total of five congenital cardio-thoracic vascular anomalies consisting of a patent ductus arteriosus (PDA) with an aneurysmic dilation, pulmonic stenosis, persistent right aortic arch, aberrant left subclavian artery and persistent left cranial vena cava. These abnormalities were identified with a combination of echocardiogram and computed tomography angiography (CTA). The abnormalities were associated with esophageal entrapment, regurgitation, and volume overload of the left heart with left atrial and ventricular enlargement...
January 13, 2017: Journal of Veterinary Cardiology: the Official Journal of the European Society of Veterinary Cardiology
https://www.readbyqxmd.com/read/28091779/early-and-late-outcomes-after-surgical-management-of-congenital-vascular-rings
#10
Katrien François, Joseph Panzer, Katya De Groote, Kristof Vandekerckhove, Daniel De Wolf, Hans De Wilde, Fabienne Marchau, Wim De Caluwe, Abraham Benatar, Thierry Bové
: Persistent respiratory or feeding problems in children may be associated with a congenital vascular ring. Surgical management is fairly standardized, but long-term outcomes are not well described. This study aims to investigate clinical presentation, surgical treatment, and risk factors for early mortality and late outcome. Our database revealed 62 surgically treated vascular ring patients between 1993 and 2014. Double aortic arch was the most common diagnosis (53%). Median age at operation was 1 year...
January 13, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28088673/relationship-between-neonatal-gastroschisis-and-maternal-body-mass-index-in-a-united-kingdom-population
#11
Joann Hale, Abigail Derbyshire, Alexander Taylor, Clive Osmond, Diana Wellesley, David T Howe
OBJECTIVE: It has been reported that gastroschisis is associated with low maternal body mass index (BMI). We tested this hypothesis in the UK. STUDY DESIGN: We studied cases of gastroschisis ascertained from the regional fetal congenital anomaly register. We compared each affected mother with two controls from the birth register and maternity database. The first control was the next mother to deliver in the hospital, representing the normal population of mothers...
December 15, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28079698/pediatric-hand-surgery-in-global-health-the-role-for-international-outreach
#12
Karen Y Chung, Amanda Hanemaayer, Dan Poenaru
PURPOSE: There is emerging interest in hand surgery and global health. This was emphasized at the 2015 presidential address at the American Society for Surgery of Hand. Children are prioritized because of their increased risk for trauma and higher potential for better outcomes. This study aims to identify how hand surgical volunteer programs can benefit the pediatric hand surgical landscape in global health. There has been no literature review to date. METHODS: This institutional review board-approved review systematically searched PubMed, Embase, Medline, African Journal Online, and the Journal of Hand Surgery...
February 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28079045/hernia-of-the-umbilical-cord-associated-with-a-patent-omphalomesenteric-duct
#13
M Raicevic, I Filipovic, S Sindjic-Antunovic
Congenital hernia of the cord is a different type of ventral abdominal wall defect in which the bowel usually herniates into the base of normally inserted umbilical cord through a patent umbilical ring. It is rare congenital anomaly with incidence of 1 in 5000. Although it was described as a distinct entity since 1920s it is often misdiagnosed as a small omphalocele. We present an unusal case of term male newborn with umbilical cord hernia associated with patent omphalomesenteric duct. The diagnose was made after birth despite antenatal ultrasound scans and it is managed successfully with uneventful recovery...
January 2017: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/28078779/association-between-zika-virus-and-foetopathy-a-prospective-cohort-study-in-french-guiana-preliminary-report
#14
Pomar Léo, Malinger Gustavo, Benoist Guillaume, Carles Gabriel, Ville Yves, Rousset Dominique, Hcini Najeh, Pomar Céline, Jolivet Anne, Lambert Véronique
OBJECTIVES: The main objectives of the present study were to establish the existence of significant differences in the incidence of central nervous system (CNS) anomalies (including microcephaly), signs of congenital infection, or foetal loss between Zika virus (ZIKV)-infected and non-infected pregnant women in western French Guiana. METHODS: This prospective cohort study was conducted between January 1(st) and July 15(th) 2016. We evaluated the clinical and foetal ultrasound (US) examinations of 301 pregnant women with biological confirmation of ZIKV infection and 399 pregnant women who were negative for ZIKV infection...
January 12, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28077639/identification-of-a-continuous-neutralizing-epitope-within-ul128-of-human-cytomegalovirus
#15
Flavia Chiuppesi, Teodora Kaltcheva, Meng Zhuo, Peter A Barry, Don J Diamond, Felix Wussow
: As human cytomegalovirus (HCMV) is the most common infectious cause of fetal anomalies during pregnancy, developing a vaccine that prevents HCMV infection is considered a global health priority. Although HCMV immune correlates of protection are only poorly defined, neutralizing antibodies (NAb) targeting the envelope pentamer complex (PC) composed of subunits gH, gL, UL128, UL130, and UL131A are thought to contribute in preventing HCMV infection. Here, we describe a continuous target sequence within UL128 that is recognized by a previously isolated potent PC-specific NAb, termed 13B5...
January 11, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28077135/comorbidity-study-of-borderline-personality-disorder-applying-association-rule-mining-to-the-taiwan-national-health-insurance-research-database
#16
Cheng-Che Shen, Li-Yu Hu, Ya-Han Hu
BACKGROUND: Borderline personality disorder (BPD) is a complex clinical state with highly polymorphic symptoms and signs. Studies have demonstrated that people with a BPD diagnosis are likely to have numerous co-occurring psychiatric disorders and physical comorbidities. The aim of our study was to obtain further insight about the associations among comorbidities of BPD and to demonstrate the practicality of using association rule mining (ARM) technique in clinical databases. METHODS: A retrospective case-control study was conducted on information of 1460 patients (292 BPD patients and 1168 control patients) selected from the Taiwan National Health Insurance Research Database...
January 11, 2017: BMC Medical Informatics and Decision Making
https://www.readbyqxmd.com/read/28076624/quadricuspid-aortic-valve-a-comprehensive-review
#17
Shi-Min Yuan
Quadricuspid aortic valve (QAV) is a rare congenital heart disease. The functional status of QAV is predominantly a pure aortic regurgitation. Clinical manifestations of patients with a QAV depend on the functional status of the QAV and the associated disorders. Significant valvular regurgitation and (or) stenosis is often present with subsequent operation performed at the fifth to sixth decade of life. The functional status of QAV is predominantly regurgitant; whereas pure stenotic QAV can be as few as in only 0...
November 2016: Brazilian Journal of Cardiovascular Surgery
https://www.readbyqxmd.com/read/28076398/identification-of-a-novel-mutation-in-brd4-that-causes-autosomal-dominant-syndromic-congenital-cataracts-associated-with-other-neuro-skeletal-anomalies
#18
Hyun-Seok Jin, Jeonhyun Kim, Woori Kwak, Hyeonsoo Jeong, Gyu-Bin Lim, Cha Gon Lee
Congenital cataracts can occur as a non-syndromic isolated ocular disease or as a part of genetic syndromes accompanied by a multi-systemic disease. Approximately 50% of all congenital cataract cases have a heterogeneous genetic basis. Here, we describe three generations of a family with an autosomal dominant inheritance pattern and common complex phenotypes, including bilateral congenital cataracts, short stature, macrocephaly, and minor skeletal anomalies. We did not find any chromosomal aberrations or gene copy number abnormalities using conventional genetic tests; accordingly, we conducted whole-exome sequencing (WES) to identify disease-causing genetic alterations in this family...
2017: PloS One
https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#19
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
January 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28075028/a-recognizable-type-of-syndromic-short-stature-with-arthrogryposis-caused-by-bi-allelic-sema3a-loss-of-function-variants
#20
Matthias Baumann, Elisabeth Steichen-Gersdorf, Birgit Krabichler, Thomas Müller, Andreas R Janecke
The semaphorins constitute a large family of secreted and membrane-associated proteins that regulate many developmental processes, including neural circuit assembly, bone formation and angiogenesis. Recently, bi-allelic loss-of-function variants in SEMA3A (semaphorin 3A) were identified in a single patient with a particular pattern of multiple congenital anomalies (MCA). Using homozygosity mapping combined with exome sequencing, we identified a homozygous SEMA3A variant causing a premature stop codon in an 8-year-old boy with the same pattern of MCA...
January 11, 2017: Clinical Genetics
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