keyword
MENU ▼
Read by QxMD icon Read
search

adult congenital

keyword
https://www.readbyqxmd.com/read/28343240/childhood-angular-kyphosis-a-plea-for-involvement-of-the-pediatric-neurosurgeon
#1
E Cornips, S Koudijs, J Vles, L van Rhijn
INTRODUCTION: Childhood angular kyphosis is rare, as most children are affected by a mixed kyphotic and scoliotic deformity. Published series involving a mix of kyphosis and kyphoscoliosis, pediatric and adult, congenital and acquired cases are almost exclusively authored by orthopedic surgeons, suggesting that (pediatric) neurosurgeons are not involved. CASE SERIES: We present five cases that illustrate the spectrum of angular kyphosis, and these were treated by a multidisciplinary team including child neurologist, orthopedic surgeon, and pediatric neurosurgeon as complementary partners...
March 25, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28342658/educational-needs-of-adolescents-with-congenital-heart-disease-impact-of-a-transition-intervention-programme
#2
Magalie Ladouceur, Johanna Calderon, Maladon Traore, Radhia Cheurfi, Christine Pagnon, Diala Khraiche, Fanny Bajolle, Damien Bonnet
BACKGROUND: Adolescents and young adults with congenital heart disease (CHD) have complex health needs and require lifelong follow-up. Interventions to facilitate the paediatric-to-adult healthcare transition are recommended, but outcomes remain largely under-investigated. AIMS: To identify the educational needs and the impact of a transition intervention on knowledge and self-management skills in adolescents and young adults with CHD. METHODS: From September 2014 to May 2015, 115 adolescents and young adults with CHD (mean age 17±2 years; 47 girls) were consecutively enrolled...
March 22, 2017: Archives of Cardiovascular Diseases
https://www.readbyqxmd.com/read/28339907/o-linked-%C3%AE-n-acetylglucosamine-modification-of-proteins-is-essential-for-foot-process-maturation-and-survival-in-podocytes
#3
Shinya Ono, Shinji Kume, Mako Yasuda-Yamahara, Kosuke Yamahara, Naoko Takeda, Masami Chin-Kanasaki, Hisazumi Araki, Osamu Sekine, Hideki Yokoi, Masashi Mukoyama, Takashi Uzu, Shin-Ichi Araki, Hiroshi Maegawa
Background.: O-linked β- N -acetylglucosamine modification O-GlcNAcylation) is a post-translational modification of intracellular proteins, serving as a nutrient sensor. Growing evidence has demonstrated its physiological and pathological importance in various mammalian tissues. This study examined the physiological role of O-GlcNAcylation in podocyte function and development. Methods.: O-GlcNAc transferase (Ogt) is a critical enzyme for O-GlcNAcylation and resides on the X chromosome...
February 27, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28337558/improving-on-the-diagnostic-characteristics-of-echocardiography-for-pulmonary-hypertension
#4
Kathleen Broderick-Forsgren, Clemontina A Davenport, Joseph A Sivak, Charles William Hargett, Michael C Foster, Andrew Monteagudo, Alicia Armour, Sudarshan Rajagopal, Kristine Arges, Eric J Velazquez, Zainab Samad
This retrospective study evaluated the diagnostic characteristics of a combination of echocardiographic parameters for pulmonary hypertension (PH). Right ventricular systolic pressure (RVSP) estimation by echocardiography (echo) is used to screen for PH. However, the sensitivity of this method is suboptimal. We hypothesized that RVSP estimation in conjunction with other echo parameters would improve the value of echo for PH. The Duke Echo database was queried for adult patients with known or suspected PH who had undergone both echo and right heart catheterization (RHC) within a 24 h period between 1/1/2008 and 12/31/2013...
March 24, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28335857/modeling-syndromic-congenital-heart-defects-in-zebrafish
#5
Meagan G Grant, Victoria L Patterson, Daniel T Grimes, Rebecca D Burdine
Cardiac development is a dynamic process regulated by spatial and temporal cues that are integrated to effect molecular, cellular, and tissue-level events that form the adult heart. Disruption of these highly orchestrated events can be devastating for cardiac form and function. Aberrations in heart development result in congenital heart defects (CHDs), which affect 1 in 100 infants in the United States each year. Zebrafish have proven informative as a model organism to understand both heart development and the mechanisms associated with CHDs due to the similarities in heart morphogenesis among vertebrates, as well as their genetic tractability and amenability to live imaging...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28334861/defective-signaling-through-plexin-a1-compromises-the-development-of-the-peripheral-olfactory-system-and-neuroendocrine-reproductive-axis-in-mice
#6
Séverine Marcos, Carine Monnier, Xavier Rovira Algans, Corinne Fouveaut, Nelly Pitteloud, Fabrice Ango, Catherine Dodé, Jean-Pierre Hardelin
The olfacto-genital syndrome (Kallmann syndrome) associates congenital hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency and anosmia. This is a genetically heterogeneous developmental disease with various modes of transmission, including oligogenic inheritance. Previous reports have involved defective cell signaling by semaphorin-3A in the disease pathogenesis. Here, we report that the embryonic phenotype of Plxna1-/- mutant mice lacking plexin-A1 (a major receptor of class 3 semaphorins), though not fully penetrant, resembles that of Kallmann syndrome fetuses...
March 2, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28329491/congenital-erythropoietic-porphyria-gunther-disease-long-term-follow-up-of-a-case-and-review
#7
Matthew Howard, Anthony Hall, Donald Ramsay
Patients with the rare genodermatosis congenitalerythropoietic porphyria (CEP, Gunther disease)develop erosions and scarring on sun-exposedsites caused by phototoxin mediated damage.Compromised skin barrier function places patientsat higher risk of infection and long term sequelaeinclude scarring. We report a long term follow up ofa 60 year old patient born with CEP and provide anextensive literature review of CEP including recentupdates on potential management options. Multiplepatient interviews and collection of biochemistry datawere conducted for the case discussion...
February 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329459/nineteen-years-of-adult-congenital-heart-surgery-in-a-single-center
#8
Madurra Perinpanayagam, Signe H Larsen, Kristian Emmertsen, Marianne B Møller, Vibeke E Hjortdal
BACKGROUND: Adults with congenital heart disease are a growing population. We describe surgical interventions, short- and long-term mortality and morbidity, and risk factors for adverse events in a population-based cohort. METHODS: Patients over or equal to 18 years with congenital heart disease who underwent cardiac surgery at Aarhus University Hospital, Denmark, from 1994 to 2012 were included in the study. Diagnoses, surgical procedures, postoperative complications, and survival were identified in hospital databases, medical records, and the Danish Civil Registration System...
March 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28329454/adult-congenital-cardiac-care
#9
Brian E Kogon, Kati Miller, Paula Miller, Bahaaldin Alsoufi, Joshua M Rosenblum
BACKGROUND: The Adult Congenital Heart Association (ACHA) is dedicated to supporting patients with congenital heart disease. To guide patients to qualified providers and programs, it maintains a publicly accessible directory of dedicated adult congenital cardiac programs. We analyzed the directory in 2006 and 2015, aiming to evaluate the growth of the directory as a whole and to evaluate the growth of individual programs within the directory. We also hope this raises awareness of the growing opportunities that exist in adult congenital cardiology and cardiac surgery...
March 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28329450/public-views-on-pulse-oximetry-screening-for-critical-congenital-heart-disease
#10
Praveen Kumar, Hari Iyengar, Prerna Kumar
OBJECTIVES: To understand public views on pulse oximetry screening for critical congenital heart disease. METHODS: Two hundred thirteen adults read a brief vignette describing the importance of early detection of critical congenital heart disease and then answered five questions on a five-point scale of how likely or unlikely they were to support pulse oximetry screening. Responses were tabulated and analyzed using a Fisher exact test, and logistic regression was used to estimate odds ratios for adjusted associations using generalized estimating equations...
March 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28329231/cardiac-protective-effects-of-remote-ischaemic-preconditioning-in-children-undergoing-tetralogy-of-fallot-repair-surgery-a-randomized-controlled-trial
#11
Qingping Wu, Tingting Wang, Shiqiang Chen, Quanjun Zhou, Haobo Li, Na Hu, Yinglu Feng, Nianguo Dong, Shanglong Yao, Zhengyuan Xia
Aims: Remote ischaemic preconditioning (RIPC) by inducing brief ischaemia in distant tissues protects the heart against myocardial ischaemia-reperfusion injury (IRI) in children undergoing open-heart surgery, although its effectiveness in adults with comorbidities is controversial. The effectiveness and mechanism of RIPC with respect to myocardial IRI in children with tetralogy of Fallot (ToF), a severe cyanotic congenital cardiac disease, undergoing open heart surgery are unclear. We hypothesized that RIPC can confer cardioprotection in children undergoing ToF repair surgery...
February 18, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28329113/endocarditis-in-adults-with-congenital-heart-disease-new-answers-new-questions
#12
Gerhard-Paul Diller, Helmut Baumgartner
No abstract text is available yet for this article.
February 23, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28328117/noonan-syndrome-ptpn11-mutations-and-brain-tumors-a-clinical-report-and-review-of-the-literature
#13
Aurore Siegfried, Claude Cances, Marie Denuelle, Najat Loukh, Maïté Tauber, Hélène Cavé, Marie-Bernadette Delisle
Noonan syndrome (NS), an autosomal dominant disorder, is characterized by short stature, congenital heart defects, developmental delay, and facial dysmorphism. PTPN11 mutations are the most common cause of NS. PTPN11 encodes a non-receptor protein tyrosine phosphatase, SHP2. Hematopoietic malignancies and solid tumors are associated with NS. Among solid tumors, brain tumors have been described in children and young adults but remain rather rare. We report a 16-year-old boy with PTPN11-related NS who, at the age of 12, was incidentally found to have a left temporal lobe brain tumor and a cystic lesion in the right thalamus...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28323585/feasibility-of-hypoxic-challenge-testing-in-children-and-adolescents-with-congenital-heart-and-lung-disease
#14
Mandy E Spoorenberg, Erik H J Hulzebos, Tim Takken
BACKGROUND: This is a cross-sectional observational study to investigate the safety and feasibility of integrating changing body positions and physical activity in a hypoxic challenge test (HCT). The secondary objective was to compare oxygen saturation (Spo2) in two different locations (forehead and finger). METHODS: Included were 12 pediatric to young adult patients with congenital heart (N = 7) or lung disease (N = 5). An HCT was performed using breathing room air (21% oxygen) while sitting and breathing a normobaric hypoxic gas mixture (15% oxygen) through a facemask while seated, lying supine, standing, walking 3 km/h, and walking 5 km/h in a nonrandomized order...
December 1, 2016: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28321396/popular-hybrid-congenital-heart-procedures-without-cardiopulmonary-bypass
#15
REVIEW
Aamisha Gupta, Zahid Amin
As surgical and catheter interventions advance, patients with congenital heart disease are now offered alternative treatment options that cater to their individual needs. Furthermore, collaboration between interventional cardiologists and cardiac surgeons have led to the development of hybrid procedures, using the best techniques of each respective field to treat these complex cardiac entities from initial treatment in the pediatric patient to repeat intervention in the adult. We present a review of the increased popularity and trend in hybrid procedures in congenital heart disease without the use of cardiopulmonary bypass...
2017: Frontiers in Surgery
https://www.readbyqxmd.com/read/28320605/percutaneous-closure-of-a-giant-coronary-artery-fistula-after-surgical-pericardiectomy-review-of-the-literature
#16
REVIEW
Leire Unzué, Eulogio García, Belén Díaz-Antón, Javier Fernández-Portales, Rodrigo Teijeiro, Miguel Rodríguez-Del-Río
Coronary artery fistulae (CAF) are uncommon heart defects defined as a communication between a coronary artery and a cardiac chamber or vascular structure. They are frequently asymptomatic; nevertheless, they can produce angina, dyspnea or cardiac failure. CAF are believed to be congenital; however, isolated cases of CAF have been described as rare complications of cardiac surgery. We report the percutaneous closure of a giant CAF in an adult patient with angina and previous pericardiectomy.
March 9, 2017: Cardiovascular Revascularization Medicine: Including Molecular Interventions
https://www.readbyqxmd.com/read/28319507/recombinant-factor-viia-is-associated-with-increased-thrombotic-complications-in-pediatric-cardiac-surgery-patients
#17
Laura Downey, Morgan L Brown, David Faraoni, David Zurakowski, James A DiNardo
BACKGROUND: Recombinant factor VIIa (rFVIIa) is routinely used as an off-label hemostatic agent in children undergoing cardiac surgery. Despite evidence that rFVIIa use is associated with an increased incidence of thrombotic complications in adult cardiac surgery, the safety of rFVIIa as a rescue hemostatic agent in the pediatric cardiac surgical population is less definitively delineated. In this retrospective study, we used propensity score matching to compare the incidence of thrombotic complications between children treated with rFVIIa and their matched controls...
March 17, 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28319077/non-myeloablative-allogeneic-stem-cell-transplant-with-post-transplant-cyclophosphamide-cures-the-first-adult-patient-with-congenital-dyserythropoietic-anemia
#18
A Oh, P R Patel, N Aardsma, S R Mehendale, R Chowdhery, K Sweiss, D Rondelli
No abstract text is available yet for this article.
March 20, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28318966/structural-biology-of-the-zika-virus
#19
REVIEW
Yi Shi, George F Gao
Zika virus (ZIKV), a Flaviviridae family member transmitted to humans by mosquitoes, has emerged as a major health concern. ZIKV infections can cause serious neurological complications in adults, and infection in pregnant women can cause congenital malformations, including fetal and newborn microcephaly. In response to this emerging concern, the structural virology field was quick to explore the features of ZIKV. These efforts have provided significant insights into ZIKV pathogenesis, and have identified targets for drug design...
March 15, 2017: Trends in Biochemical Sciences
https://www.readbyqxmd.com/read/28318658/sudden-death-in-athletes
#20
Domenico Corrado, Alessandro Zorzi
Competitive sports activity is associated with an increased risk of sudden cardiovascular death (SCD) in adolescents and young adults with clinically silent cardiovascular disorders. While in middle-aged/senior athletes atherosclerotic coronary artery disease accounts for the vast majority of SCDs, in young athletes the spectrum of substrates is wider and includes inherited (cardiomyopathies) and congenital (anomalous origin of coronary arteries) structural heart diseases. Inherited ion channel diseases have been implicated in SCDs occurring with an apparently normal heart at autopsy...
March 10, 2017: International Journal of Cardiology
keyword
keyword
981
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"