keyword
MENU ▼
Read by QxMD icon Read
search

Congenital structure abnormality

keyword
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
#1
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/28070244/assessment-of-fetus-during-second-trimester-ultrasonography-using-hdlive-software-what-is-its-real-application-in-the-obstetrics-clinical-practice
#2
Gabriele Tonni, Gianpaolo Grisolia, Eduardo Félix Santana, Edward Araujo Júnior
AIM: To show imaging results from application of four-dimensional (4D) ultrasound lightening technique (HDlive™) in clinical obstetrics practice. METHODS: Normal and abnormal fetuses at second and third trimester of pregnancy undergoing routine scan with 4D HDlive™ (5DUS) in the rendering mode are described. Realistic features of fetal structures were provided by 5DUS in the rendering mode. Normal anatomy as well as pathology like cleft lip, hypoplastic face, micrognathia, low-set ears, corpus callosum, arthrogryposis, aortic arch, left congenital diaphragmatic hernia are highlighted in this study...
December 28, 2016: World Journal of Radiology
https://www.readbyqxmd.com/read/28062416/blood-flow-patterns-underlie-developmental-heart-defects
#3
Madeline Midgett, Kent L Thornburg, Sandra Rugonyi
Although cardiac malformations at birth are typically associated with genetic anomalies, blood flow dynamics also play a crucial role in heart formation. However, the relationship between blood flow patterns in the early embryo and later cardiovascular malformation has not been determined. We used the chicken embryo model to quantify the extent to which anomalous blood flow patterns predict cardiac defects that resemble those in humans, and found that restricting either the inflow to the heart or the outflow led to reproducible abnormalities with a dose-response type relationship between blood flow stimuli and the expression of cardiac phenotypes...
January 6, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28054444/heterozygous-pathogenic-variant-in-dact1-causes-an-autosomal-dominant-syndrome-with-features-overlapping-townes-brocks-syndrome
#4
Bryn D Webb, Sanjeeva Metikala, Patricia G Wheeler, Mingma D Sherpa, Sander M Houten, Marko E Horb, Eric E Schadt
A heterozygous nonsense variant was identified in dapper, antagonist of beta-catenin, 1 (DACT1) via whole exome sequencing in family members with imperforate anus, structural renal abnormalities, genitourinary anomalies, and/or ear anomalies. The DACT1 c.1256G>A;p.Trp419* variant segregated appropriately in the family consistent with an autosomal dominant mode of inheritance. DACT1 is a member of the Wnt signaling pathway, and mice homozygous for null alleles display multiple congenital anomalies including absent anus with blind-ending colon and genitourinary malformations...
January 5, 2017: Human Mutation
https://www.readbyqxmd.com/read/28049497/two-differentially-structured-collagen-scaffolds-for-potential-urinary-bladder-augmentation-proof-of-concept-study-in-a-g%C3%A3-ttingen-minipig-model
#5
Dorothea Leonhäuser, Katja Stollenwerk, Volker Seifarth, Isabella M Zraik, Michael Vogt, Pramod K Srinivasan, Rene H Tolba, Joachim O Grosse
BACKGROUND: The repair of urinary bladder tissue is a necessity for tissue loss due to cancer, trauma, or congenital abnormalities. Use of intestinal tissue is still the gold standard in the urological clinic, which leads to new problems and dysfunctions like mucus production, stone formation, and finally malignancies. Therefore, the use of artificial, biologically derived materials is a promising step towards the augmentation of this specialised tissue. The aim of this study was to investigate potential bladder wall repair by two collagen scaffold prototypes, OptiMaix 2D and 3D, naïve and seeded with autologous vesical cells, as potential bladder wall substitute material in a large animal model...
January 4, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28040527/study-of-the-radial-peripapillary-capillary-network-in-congenital-optic-disc-anomalies-with-optical-coherence-tomography-angiography
#6
Gilda Cennamo, Claudia Rossi, Pasquale Ruggiero, Giuseppe de Crecchio, Giovanni Cennamo
PURPOSE: To evaluate the radial peripapillary capillary network with optical coherence tomography angiography (angio-OCT) in morning glory syndrome (MGS), optic disc colobomas and optic disc pits, and to explore possible correlations between the neural vascular structure and the pathogenesis of congenital optic disc anomalies. DESIGN: Prospective observational comparative case series. METHODS: Fifteen eyes of 15 patients with congenital optic disc anomalies were enrolled in this study...
December 28, 2016: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28039126/are-olympic-athletes-free-from-cardiovascular-diseases-systematic-investigation-in-2352-participants-from-athens-2004-to-sochi-2014
#7
Antonio Pelliccia, Paolo Emilio Adami, Filippo Quattrini, Maria Rosaria Squeo, Stefano Caselli, Luisa Verdile, Viviana Maestrini, Fernando Di Paolo, Cataldo Pisicchio, Roberto Ciardo, Antonio Spataro
CONTEXT: Olympic athletes represent model of success in our society, by enduring strenuous conditioning programmes and achieving astonishing performances. They also raise scientific and clinical interest, with regard to medical care and prevalence of cardiovascular (CV) abnormalities. OBJECTIVE: Our aim was to assess the prevalence and type of CV abnormalities in this selected athlete's cohort. DESIGN, SETTING AND PARTICIPANTS: 2352 Olympic athletes, mean age 25±6, 64% men, competing in 31 summer or 15 winter sports, were examined with history, physical examination, 12-lead and exercise ECG and echocardiography...
December 30, 2016: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/28018896/factors-influencing-neurodevelopment-after-cardiac-surgery-during-infancy
#8
REVIEW
Hedwig Hubertine Hövels-Gürich
Short- and long-term neurodevelopmental (ND) disabilities with negative impact on psychosocial and academic performance, quality of life, and independence in adulthood are known to be the most common sequelae for surviving children after surgery for congenital heart disease (CHD). This article reviews influences and risk factors for ND impairment. For a long time, the search for independent risk factors was focused on the perioperative period and modalities of cardiopulmonary bypass (CPB). CPB operations to ensure intraoperative vital organ perfusion and oxygen supply with or without circulatory arrest or regional cerebral perfusion bear specific risks...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28017372/a-syndromic-neurodevelopmental-disorder-caused-by-de-novo-variants-in-ebf3
#9
Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, John G Pappas, Jill A Rosenfeld, Alexandra J McCarty, Taylor Davis, Lynne Wolfe, Camilo Toro, Cynthia Tifft, Fan Xia, Nicholas Stong, Travis K Johnson, Coral G Warr, Shinya Yamamoto, David R Adams, Thomas C Markello, William A Gahl, Hugo J Bellen, Michael F Wangler, May Christine V Malicdan
Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals have shown that EBF3 homologs are essential for survival and that loss-of-function mutations are associated with a range of nervous system developmental defects, including perturbation of neuronal development and migration. Interestingly, aristaless-related homeobox (ARX), a homeobox-containing transcription factor critical for the regulation of nervous system development, transcriptionally represses EBF3 expression...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28013288/structural-cerebral-abnormalities-and-neurodevelopmental-status-in-single-ventricle-congenital-heart-disease-before-fontan-procedure
#10
Walter Knirsch, Kristina Nadine Mayer, Ianina Scheer, Ruth Tuura, Dietmar Schranz, Andreas Hahn, Kristina Wetterling, Ingrid Beck, Beatrice Latal, Bettina Reich
OBJECTIVES: Neonates with single ventricle congenital heart disease are at risk for structural cerebral abnormalities. Little is known about the further evolution of cerebral abnormalities until Fontan procedure. METHODS: Between August 2012 and July 2015, we conducted a prospective cross-sectional two centre study using cerebral magnetic resonance imaging (MRI) and neuro-developmental outcome assessed by the Bayley-III. Forty-seven children (31 male) were evaluated at a mean age of 25...
December 23, 2016: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28011715/generation-of-hoxc13-knockout-pigs-recapitulates-human-ectodermal-dysplasia-9
#11
Kai Han, Liuping Liang, Li Li, Zhen Ouyang, Bentian Zhao, Qi Wang, Zhaoming Liu, Yu Zhao, Xiaoshuai Ren, Fei Jiang, Chengdan Lai, Kepin Wang, Sen Yan, Liang Huang, Lin Guo, Kang Zeng, Liangxue Lai, Nana Fan
Atrichia and sparse hair phenotype cause distress to many patients. Ectodermal dysplasia-9 (ED-9) is a congenital condition characterized by hypotrichosis and nail dystrophy without other disorders, and Hoxc13 is a pathogenic gene for ED-9. However, mice carrying Hoxc13 mutation present several other serious disorders, such as skeletal defects, progressive weight loss and low viability. Mouse models cannot faithfully mimic human ED-9. In this study, we generated an ED-9 pig model via Hoxc13 gene knockout through single-stranded oligonucleotides (c...
December 22, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28005137/adverse-fetal-and-neonatal-outcome-and-an-abnormal-vertebral-pattern-a-systematic-review
#12
Pauline Christine Schut, Titia E Cohen-Overbeek, Frietson Galis, Clara M A Ten Broek, Eric A Steegers, Alex J Eggink
Importance: The human vertebral column has a stable number of vertebrae and ribs, which is presumably the result of evolutionary selection. An association between an abnormal vertebral pattern, especially in the cervical region, and congenital anomalies or adverse fetal outcome has been reported. Objective: The aim of this study was to review the current literature concerning an abnormal vertebral pattern and prevalence of cervical ribs in healthy subjects and in subjects with adverse outcome...
December 2016: Obstetrical & Gynecological Survey
https://www.readbyqxmd.com/read/28003988/eye-pathologies-in-neonates
#13
REVIEW
Nyaish Mansoor, Tihami Mansoor, Mansoor Ahmed
In the United Kingdom, newborn assessment incorporates a screening eye examination for any structural abnormalities, observation of neonate's visual behaviour and direct ophthalmoscopy examination looking for red reflex. Early identification and immediate management of eye related pathologies should commence soon after birth as early diagnosis and prompt intervention may have significant impact on the prognosis for many potentially blinding but treatable disorders such as congenital cataracts and retinoblastoma...
2016: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28003733/mmp19-expression-in-the-human-optic-nerve
#14
Kathleen R Chirco, Ralph J Hazlewood, Kathy Miller, Grefachew Workalemahu, Lee M Jampol, G Robert Lesser, Robert F Mullins, Markus H Kuehn, John H Fingert
PURPOSE: The defining feature of glaucoma is excavation of the optic nerve head; however, the mechanism of this loss of tissue is not well understood. We recently discovered a copy number variation upstream of matrix metalloproteinase 19 (MMP19) in a large, autosomal dominant pedigree with a congenital malformation of the optic disc called cavitary optic disc anomaly (CODA). Patients with CODA have abnormal optic discs that exhibit an excavated shape similar to cupping seen in glaucoma...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27993326/interventional-treatment-of-pulmonary-lymphatic-anomalies
#15
REVIEW
Maxim Itkin
Pulmonary lymphatic diseases have been recognized for many years and have been referred as pulmonary lymphangiectasia, pulmonary lymphangiomatosis, plastic bronchitis, and idiopathic chylothorax or chylopericardium. The lymphatic etiology of these conditions has been determined by detection of cystic lymphatic structures on biopsy or postmortem examination. Development of new imaging techniques such as dynamic contrast-enhanced magnetic resonance lymphangiography has allowed better understanding of pathophysiology of these conditions...
December 2016: Techniques in Vascular and Interventional Radiology
https://www.readbyqxmd.com/read/27992982/-prevalence-of-birth-defects-in-risaralda-2010-2013
#16
Gloria Liliana Porras-Hurtado, Olga Mercedes León-Castañeda, Jaime Molano-Hurtado, Sandra Lorena Quiceno, Harry Pachajoa, Juan José Montoya
INTRODUCTION: The data regarding birth defects at local levels in developing countries like Colombia are scarce. OBJECTIVE: To describe the profile of congenital abnormalities in the province of Risaralda, Colombia. MATERIALS AND METHODS: We included the information on infants with structural and functional abnormalities at birth between June, 2010, and December, 2013, from records of the Instituto Nacional de Salud, and compared it with those of children born in the same period in a local clinic participating in the Collaborative Study of Congenital Malformations...
December 1, 2016: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/27989374/functional-quality-of-life-and-neurodevelopmental-outcomes-after-congenital-cardiac-surgery
#17
REVIEW
Megan L Ringle, Gil Wernovsky
Throughout the past few decades, advances in cardiology, neonatal intensive care, and surgical techniques have resulted in a growing cohort of thriving school-aged children with previously lethal complex congenital heart diseases. While survival has increased, there remains significant morbidity following repair including neurodevelopmental sequelae. Compared to children with a structurally normal heart, these infants and children have a higher frequency of abnormalities in tone, feeding, and delayed developmental milestones, as well as challenges with speech and learning disabilities, while a higher proportion of adolescents suffer from problems with processing speed, executive function, and a unique set of medical hardships related to exercise intolerance and obesity, medication burden, and mental health comorbidities...
December 2016: Seminars in Perinatology
https://www.readbyqxmd.com/read/27978593/fetal-neurosonogaphy-ultrasound-and-magnetic-resonance-imaging-in-competition
#18
S Tercanli, F Prüfer
Both in routine diagnostics and detailed, highly specialized workups, major advances have been observed in many areas of ultrasound due to an increase in expertise and improved technology in recent years. This is particularly true in the case of fetal neurosonography 1 2 3 4. Malformations of the CNS together with fetal heart defects are among the most common congenital anomalies. From the embryonic phase to the late third trimester, the CNS undergoes extensive development and maturation processes. The diagnosis of CNS anomalies is therefore primarily dependent on the time at which the examination is performed and the experience of the examiner...
December 2016: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/27976420/myopathology-in-congenital-myopathies
#19
Caroline A Sewry, Carina Wallgren-Pettersson
Congenital myopathies are clinically and genetically a heterogeneous group of early onset neuromuscular disorders, characterised by hypotonia and muscle weakness. Clinical severity and age of onset are variable. Many patients are severely affected at birth whilst others have a milder, moderately progressive or non-progressive phenotype. Respiratory weakness is a major clinical aspect that requires regular monitoring. Causative mutations in several genes have been identified that are inherited in a dominant, recessive or X-linked manner or arise de novo...
December 15, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27957813/neurocognitive-functioning-in-adults-with-congenital-heart-disease
#20
Dawn Ilardi, Kim E Ono, Rebecca McCartney, Wendy Book, Anthony Y Stringer
OBJECTIVE: Adults with congenital heart disease (CHD) are at increased risk of psychological disorders and cognitive deficiencies due to structural/acquired neurological abnormalities and neurodevelopmental disorders as children. However, limited information is known about the neuropsychological functioning of adults with CHD. This study screened neuropsychological abilities and explored group differences related to cardiac disease severity and neurological risk factors in adults with CHD...
December 13, 2016: Congenital Heart Disease
keyword
keyword
42189
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"