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Congenital structure abnormality

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https://www.readbyqxmd.com/read/28212877/defining-outcomes-for-clinical-trials-of-leber-congenital-amaurosis-caused-by-gucy2d-mutations
#1
Samuel G Jacobson, Artur V Cideciyan, Alexander Sumaroka, Alejandro J Roman, Jason Charng, Monica Lu, Shreyasi Choudhury, Sharon B Schwartz, Elise Heon, Gerald A Fishman, Shannon E Boye
PURPOSE: To determine outcome measures for a clinical trial of Leber congenital amaurosis (LCA) associated with mutations in the GUCY2D gene. DESIGN: Retrospective observational case series. METHODS: 28 patients with GUCY2D-LCA (ages 2-59) were studied clinically and with chromatic full-field sensitivity testing (FST), optical coherence tomography (OCT), pupillometry, and the NEI Visual Function Questionnaire. RESULTS: FST permitted quantitation of cone and rod sensitivity in these patients with severe visual impairment...
February 14, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28211263/increased-regurgitant-flow-causes-endocardial-cushion-defects-in-an-avian-embryonic-model-of-congenital-heart-disease
#2
Stephanie M Ford, Matthew T McPheeters, Yves T Wang, Pei Ma, Shi Gu, James Strainic, Christopher Snyder, Andrew M Rollins, Michiko Watanabe, Michael W Jenkins
BACKGROUND: The relationship between changes in endocardial cushion and resultant congenital heart diseases (CHD) has yet to be established. It has been shown that increased regurgitant flow early in embryonic heart development leads to endocardial cushion defects, but it remains unclear how abnormal endocardial cushions during the looping stages might affect the fully septated heart. The goal of this study was to reproducibly alter blood flow in vivo and then quantify the resultant effects on morphology of endocardial cushions in the looping heart and on CHDs in the septated heart...
February 17, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28210520/synchronous-aberrant-cerebellar-and-opercular-development-in-fetuses-and-neonates-with-congenital-heart-disease-correlation-with-early-communicative-neurodevelopmental-outcomes-initial-experience
#3
A Wong, T Chavez, S O'Neil, J Votava-Smith, D Miller, S delCastillo, A Panigrahy, L Paquette
Patients with congenital heart disease (CHD) demonstrate multidomain cognitive delays. Cingulo-opercular and cerebellar brain networks are critical to language functions. This is a description of our initial experience aiming to identify an anatomic correlate for CHD patients with expressive language delays. Fetal CHD patients, prospectively enrolled, underwent serial fetal (1.5T), postnatal pre- and postoperative (3T) MRI. Non-CHD patients were enrolled retrospectively from the same epoch. Comparable fetal and neonatal T2 contrast was used for manual linear cross-sectional measurement...
January 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28196902/hyaluronidase-2-deficiency-causes-increased-mesenchymal-cells-congenital-heart-defects-and-heart-failure
#4
Biswajit Chowdhury, Bo Xiang, Michelle Liu, Richard Hemming, Vernon W Dolinsky, Barbara Triggs-Raine
BACKGROUND: Hyaluronan (HA) is required for endothelial-to-mesenchymal transition and normal heart development in the mouse. Heart abnormalities in hyaluronidase 2 (HYAL2)-deficient (Hyal2(-)(/-) ) mice and humans suggested removal of HA is also important for normal heart development. We have performed longitudinal studies of heart structure and function in Hyal2(-/-) mice to determine when, and how, HYAL2 deficiency leads to these abnormalities. METHODS AND RESULTS: Echocardiography revealed atrial enlargement, atrial tissue masses, and valvular thickening at 4 weeks of age, as well as diastolic dysfunction that progressed with age, in Hyal2(-/-) mice...
January 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28196901/novel-variant-in-the-ank2-membrane-binding-domain-is-associated-with-ankyrin-b-syndrome-and-structural-heart-disease-in-a-first-nations-population-with-a-high-rate-of-long-qt-syndrome
#5
Leigh Anne Swayne, Nathaniel P Murphy, Sirisha Asuri, Lena Chen, Xiaoxue Xu, Sarah McIntosh, Chao Wang, Peter J Lancione, Jason D Roberts, Charles Kerr, Shubhayan Sanatani, Elizabeth Sherwin, Crystal F Kline, Mingjie Zhang, Peter J Mohler, Laura T Arbour
BACKGROUND: Long QT syndrome confers susceptibility to ventricular arrhythmia, predisposing to syncope, seizures, and sudden death. While rare globally, long QT syndrome is ≈15× more common in First Nations of Northern British Columbia largely because of a known mutation in KCNQ1. However, 2 large multigenerational families were affected, but negative for the known mutation. METHODS AND RESULTS: Long QT syndrome panel testing was carried out in the index case of each family, and clinical information was collected...
January 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28195247/type-ii-congenital-pulmonary-airway-malformation-associated-with-intralobar-pulmonary-sequestration-report-of-a-case-and-review-of-classification-criteria
#6
M G Mastrogiulio, A Barone, M G Disanto, A Ginori, M R Ambrosio, S F Carbone, D Spina
Pulmonary congenital abnormalities are rare disorders including congenital pulmonary airway malformations (CPAM) and pulmonary sequestration (PS). CPAM is a lesion characterized by the presence of anomalous bronchiolar or acinar structures, variable in size, either cystic or not cystic. PS is generally defined as nonfunctioning lung tissue that is not in normal continuity with the tracheobronchial tree and that derives its blood supply from systemic vessels. We describe a case of a baby girl with a very rare association between CPAM type 2 and intralobar pulmonary sequestration (IPS) focusing on the cystic lesions typical of CPAM and on the lymphatic and blood vessels...
March 2016: Pathologica
https://www.readbyqxmd.com/read/28188379/a-novel-mutation-of-laminin-%C3%AE-2-lamb2-in-two-siblings-with-renal-failure
#7
Farah A Falix, Carlien A M Bennebroek, Bert van der Zwaag, Ruth Lapid-Gortzak, Sandrine Florquin, Michiel J S Oosterveld
: This report describes a novel mutation of LAMB2, the gene associated with Pierson syndrome (microcoria-congenital nephrosis syndrome), in two female siblings. The c.970T>C p.(Cys324Arg) mutation in the LAMB2 gene affects one of the eight highly conserved cysteine residues within the first EGF-like module of the laminin β2 protein. These residues form disulfide bonds in order to achieve a correct 3D structure of the protein. The reported phenotype is considered a relatively mild variant of Pierson syndrome and is associated with later-onset (18 months) therapy-resistant nephrotic syndrome leading to renal failure, and ocular abnormalities consisting of high myopia, microcoria, diverse retinal abnormalities, hence a low level of visual acuity...
February 10, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28185475/4d-flow-magnetic-resonance-imaging-role-in-pediatric-congenital-heart-disease
#8
Claire M Lawley, Kathryn M Broadhouse, Fraser M Callaghan, David S Winlaw, Gemma A Figtree, Stuart M Grieve
Imaging-based evaluation of cardiac structure and function remains paramount in the diagnosis and monitoring of congenital heart disease in childhood. Accurate measurements of intra- and extracardiac hemodynamics are required to inform decision making, allowing planned timing of interventions prior to deterioration of cardiac function. Four-dimensional flow magnetic resonance imaging is a nonionizing noninvasive technology that allows accurate and reproducible delineation of blood flow at any anatomical location within the imaging volume of interest, and also permits derivation of physiological parameters such as kinetic energy and wall shear stress...
January 1, 2017: Asian Cardiovascular & Thoracic Annals
https://www.readbyqxmd.com/read/28181314/congenital-uni-leaflet-mitral-valve-with-severe-stenosis-a-case-report-with-literature-review
#9
Weixin Zhang, Yonghuai Wang, Chunyan Ma, Zhiwei Zhang, Jun Yang
Numerical abnormalities of mitral leaflets is a special entity in congenital mitral malformations. Previously reported cases of uni-leaflet mitral valve were primarily related to absence or dysplasia of certain leaflets. We present a case here with mitral leaflets that were not divided into anterior and posterior as usual, but developed as an integral structure instead, which is different from previously documented cases of uni-leaflet mitral valves. Real time three-dimensional echocardiography (RT3DE) provides a visual presentation of the abnormal mitral structure which was confirmed by surgical operation...
February 9, 2017: Echocardiography
https://www.readbyqxmd.com/read/28157257/compound-heterozygous-pomt1-mutations-in-a-chinese-family-with-autosomal-recessive-muscular-dystrophy-dystroglycanopathy-c1
#10
Pengzhi Hu, Song Wu, Lamei Yuan, Qiongfen Lin, Wen Zheng, Hong Xia, Hongbo Xu, Liping Guan, Hao Deng
Muscular dystrophy-dystroglycanopathy (MDDG) is a genetically and clinically heterogeneous group of muscular disorders, characterized by congenital muscular dystrophy or later-onset limb-girdle muscular dystrophy accompanied by brain and ocular abnormalities, resulting from aberrant alpha-dystroglycan glycosylation. Exome sequencing and Sanger sequencing were performed on a six-generation consanguineous Han Chinese family, members of which had autosomal recessive MDDG. Compound heterozygous mutations, c.1338+1G>A (p...
February 3, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28155223/evaluation-of-prolonged-qt-interval-structural-heart-disease-mimicking-long-qt-syndrome
#11
Adaya Weissler-Snir, Michael H Gollob, Vijay Chauhan, Melanie Care, Danna A Spears
BACKGROUND: In about 20-25% of patients with congenital long QT syndrome (LQTS) a causative pathogenic mutation is not found. The aim of this study was to explore the prevalence of alternative cardiac diagnoses among patients exhibiting prolongation of QT interval with negative genetic testing for LQTS genes. METHODS: We conducted a retrospective analysis of 239 consecutive patients who were evaluated in the inherited arrhythmia clinic at the Toronto General Hospital between July 2013 and December 2015 for possible LQTS...
February 3, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28151908/implantation-of-vvi-pacemaker-in-a-patient-with-dextrocardia-persistent-left-superior-vena-cava-and-sick-sinus-syndrome-a-case-report
#12
Gongliang Guo, Lili Yang, Jinyi Wu, Liqun Sun
BACKGROUND: Dextrocardia, or right-lying heart, is an uncommon congenital heart disease in which the apex of the heart is located on the right side of chest. Persistent left superior vena cava (PLSVA) is a rare venous anomaly that is often associated with the abnormalities of cardiac transduction system. A case with combination of dextrocardia, persistent left superior vena cava, and sick sinus syndrome has not been reported. METHODS: We used different techniques including cardiac color Doppler echocardiography, 24-hour Holter monitoring, and abdominal ultrasound to make a diagnosis and treated the patient by implanting a VVI pacemaker...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28139441/normative-values-of-aortic-arch-structures-in-premature-infants
#13
Elles J Dijkema, Mirella C Molenschot, Johannes M P J Breur, Willem B de Vries, Martijn G Slieker
BACKGROUND: Aortic arch abnormalities represent 5% to 8% of all congenital heart disease. Measurements of the aortic arch dimensions on two-dimensional echocardiographic images remain of critical importance in the diagnosis of aortic arch pathology. To define aortic hypoplasia or coarctation, measured dimensions must be compared with normal values. Normal values have been described for children of all ages in earlier studies. However, normative data for premature infants are not yet available...
January 27, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/28138167/congenital-abnormalities-of-the-ribs-evaluation-with-multidetector-computed-tomography
#14
Ramazan Davran, Hanifi Bayarogullari, Nesrin Atci, Alperen Kayali, Fatma Ozturk, Gulen Burakgazi
OBJECTIVE: To evaluate congenital abnormalities of ribs using multidetector computed tomography. METHODS: The retrospective study was conducted at Mustafa Kemal University Research Hospital, Hatay, Turkey and comprised data of patients aged 1-45 years who attended the Radiology Department for computed tomography of the thorax between January 2010 and July 2013. Multiplanar reconstructions, maximum intensity projections, and 3-dimensional images were acquired to investigate numerical and structural abnormalities of the ribs of the patients who underwent multidetector computed tomography for a variety of indications...
February 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28137281/risk-estimates-of-recurrent-congenital-anomalies-in-the-uk-a-population-based-register-study
#15
Svetlana V Glinianaia, Peter W G Tennant, Judith Rankin
BACKGROUND: Recurrence risks for familial congenital anomalies in successive pregnancies are known, but this information for major structural anomalies is lacking. We estimated the absolute and relative risks of recurrent congenital anomaly in the second pregnancy for women with a history of a congenital anomaly in the first pregnancy, for all major anomaly groups and subtypes. METHODS: Population-based register data on 18,605 singleton pregnancies affected by major congenital anomaly occurring in 872,493 singleton stillbirths, live births and terminations of pregnancy for fetal anomaly were obtained from the Northern Congenital Abnormality Survey, North of England, UK, for 1985-2010...
January 31, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28133602/the-dorsal-mesenchymal-protrusion-and-the-pathogenesis-of-atrioventricular-septal-defects
#16
Tara Burns, Yanping Yang, Emilye Hiriart, Andy Wessels
Congenital heart malformations are the most common type of defects found at birth. About 1% of infants are born with one or more heart defect on a yearly basis. Congenital Heart Disease (CHD) causes more deaths in the first year of life than any other congenital abnormality, and each year, nearly twice as many children die in the United States from CHD as from all forms of childhood cancers combined. Atrioventricular septal defects (AVSD) are congenital heart malformations affecting approximately 1 in 2000 live births...
December 2016: Journal of Cardiovascular Development and Disease
https://www.readbyqxmd.com/read/28125586/a-novel-lamin-a-mutant-responsible-for-congenital-muscular-dystrophy-causes-distinct-abnormalities-of-the-cell-nucleus
#17
Alice Barateau, Nathalie Vadrot, Patrick Vicart, Ana Ferreiro, Michèle Mayer, Delphine Héron, Corinne Vigouroux, Brigitte Buendia
A-type lamins, the intermediate filament proteins participating in nuclear structure and function, are encoded by LMNA. LMNA mutations can lead to laminopathies such as lipodystrophies, premature aging syndromes (progeria) and muscular dystrophies. Here, we identified a novel heterozygous LMNA p.R388P de novo mutation in a patient with a non-previously described severe phenotype comprising congenital muscular dystrophy (L-CMD) and lipodystrophy. In culture, the patient's skin fibroblasts entered prematurely into senescence, and some nuclei showed a lamina honeycomb pattern...
2017: PloS One
https://www.readbyqxmd.com/read/28125324/chorda-tympani-nerve-dysfunction-associated-with-congenital-microtia
#18
Kenichi Takano, Nozomi Takahashi, Noriko Ogasawara, Takatoshi Yotsuyanagi, Tetsuo Himi
CONCLUSION: This is the first report to investigate the correlation between ear anomalies related to the development of specific ear structures and chorda tympani dysfunction (CTD) in congenital microtia. CTD is not always consistent with the severity of the ear anomaly or the presence of facial nerve paralysis (FNP). OBJECTIVES: To investigate the relationship between the severity of ear anomalies and CTD as well as FNP in congenital microtia. METHODS: A retrospective assessment was performed for all patients with microtia over the period 2010-2016...
January 26, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28123950/novel-surface-features-for-automated-detection-of-focal-cortical-dysplasias-in-paediatric-epilepsy
#19
Sophie Adler, Konrad Wagstyl, Roxana Gunny, Lisa Ronan, David Carmichael, J Helen Cross, Paul C Fletcher, Torsten Baldeweg
Focal cortical dysplasia is a congenital abnormality of cortical development and the leading cause of surgically remediable drug-resistant epilepsy in children. Post-surgical outcome is improved by presurgical lesion detection on structural MRI. Automated computational techniques have improved detection of focal cortical dysplasias in adults but have not yet been effective when applied to developing brains. There is therefore a need to develop reliable and sensitive methods to address the particular challenges of a paediatric cohort...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28118945/ro52-autoantibodies-arise-from-self-reactive-progenitors-in-a-mother-of-a-child-with-neonatal-lupus
#20
Joanne H Reed, Miroslaw K Gorny, Liuzhe Li, Timothy Cardozo, Jill P Buyon, Robert M Clancy
The detection of cardiac conduction defects in an 18-24 week old foetus in the absence of structural abnormalities predicts with near certainty the presence of autoantibodies against 60kD and 52kD SSA/Ro in the mother regardless of her health status. Previous studies have emphasized these autoantibodies as key mediators of tissue injury. The aim of this study was to focus on the anti-Ro52 response to determine whether these autoantibodies originate from progenitors that are inherently self-reactive or from B-cells that acquire self-reactivity during an immune response...
January 21, 2017: Journal of Autoimmunity
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