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Congenital defects

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https://www.readbyqxmd.com/read/29036646/de-novo-deleterious-sequence-variants-that-alter-the-transcriptional-activity-of-the-homeoprotein-pbx1-are-associated-with-intellectual-disability-and-pleiotropic-developmental-defects
#1
Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T Cho, Kristin G Monaghan, Dina Schneidman-Duhovny, Sarah Parisotto, Johanna C Herkert, Alexander P A Stegmann, Kathryn Miller, Natasha Shur, Jacqueline Chui, Eric Muller, Suzanne DeBrosse, Justin O Szot, Gavin Chapman, Nicholas S Pachter, David S Winlaw, Bryce A Mendelsohn, Joline Dalton, Kyriakie Sarafoglou, Peter I Karachunski, Jane M Lewis, Helio Pedro, Sally L Dunwoodie, Licia Selleri, Joseph Shieh
We present eight patients with de novo, deleterious sequence variants in the PBX1 gene. PBX1 encodes a three amino acid loop extension (TALE) homeodomain transcription factor that forms multimeric complexes with TALE and HOX proteins to regulate target gene transcription during development. As previously reported, Pbx1 homozygous mutant mice (Pbx1-/-) develop malformations and hypoplasia or aplasia of multiple organs, including the craniofacial skeleton, ear, branchial arches, heart, lungs, diaphragm, gut, kidneys, and gonads...
September 22, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29033785/versatile-roles-of-the-chromatin-remodeler-chd7-during-brain-development-and-disease
#2
REVIEW
Weijun Feng, Chunxuan Shao, Hai-Kun Liu
CHD7 (Chromo-Helicase-DNA binding protein 7) protein is an ATP-dependent chromatin remodeler. Heterozygous mutation of the CHD7 gene causes a severe congenital disease known as CHARGE syndrome. Most CHARGE syndrome patients have brain structural anomalies, implicating an important role of CHD7 during brain development. In this review, we summarize studies dissecting developmental functions of CHD7 in the brain and discuss pathogenic mechanisms behind neurodevelopmental defects caused by mutation of CHD7. As we discussed, CHD7 protein exhibits a remarkably specific and dynamic expression pattern in the brain...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29033517/alcapa-syndrome-and-atrial-septal-defect-in-a-68-year-old-woman-an-extremely-rare-congenital-association
#3
Tayyar Cankurt, Burak Acar, Selahattin Aydın, Orhan Maden
Anomalous left coronary artery arising from the pulmonary artery (ALCAPA) has been generally reported as an isolated lesion that is also called Bland-White-Garland syndrome. Herein we report a case of ALCAPA syndrome with an atrial septal defect in a 68-year-old woman. She had been asymptomatic until the age of 68. Echocardiographic examination revealed atrial septal defect, and coronary angiography showed that the left main coronary artery originated from the pulmonary artery and intensive collateral connections between the right and left coronary artery...
July 2017: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/29033372/chloroquine-a-fda-approved-drug-prevents-zika-virus-infection-and-its-associated-congenital-microcephaly-in-mice
#4
Chunfeng Li, Xingliang Zhu, Xue Ji, Natalie Quanquin, Yong-Qiang Deng, Min Tian, Roghiyh Aliyari, Xiangyang Zuo, Ling Yuan, Shabbir Khan Afridi, Xiao-Feng Li, Jae U Jung, Karin Nielsen-Saines, Frank Xiao-Feng Qin, Cheng-Feng Qin, Zhiheng Xu, Genhong Cheng
Zika virus (ZIKV) has become a global public health emergency due to its rapidly expanding range and its ability to cause severe congenital defects such as microcephaly. However, there are no FDA-approved therapies or vaccines against ZIKV infection. Through our screening of viral entry inhibitors, we found that chloroquine (CQ), a commonly used antimalarial and a FDA-approved drug that has also been repurposed against other pathogens, could significantly inhibit ZIKV infection in vitro, by blocking virus internalization...
September 28, 2017: EBioMedicine
https://www.readbyqxmd.com/read/29031773/identification-of-cdan1-c15orf41-and-sec23b-mutations-in-chinese-patients-affected-by-congenital-dyserythropoietic-anemia
#5
Yongwei Wang, Yongxin Ru, Gang Liu, Shuxu Dong, Yuan Li, Xiaofan Zhu, Fengkui Zhang, Yan-Zhong Chang, Guangjun Nie
Congenital dyserythropoietic anaemias (CDAs) are a group of rare haematological disorders characterized by ineffective erythropoiesis and dyserythropoiesis and reduced numbers of red cells, often with an abnormal morphology. Pathogenic defects in CDAN1, C15ORF41, SEC23B, KIF23, KLF1 and GATA1 genes have been identified in CDAs patients. In this study, we described 13 unrelated Chinese CDAs patients and identified 21 mutations, including 5 novel mutations in CDAN1 gene, and 5 novel mutations in SEC23B gene. Additionally, we predicted the molecular consequence of these missense mutations with Polymorphism Phenotyping v2 (Polyphen), Sorting Intolerant From Tolerant (SIFT), MutPred (http://mutpred1...
October 11, 2017: Gene
https://www.readbyqxmd.com/read/29029959/ldt-classification-and-therapeutic-strategy-of-congenital-body-wall-defects
#6
Shun Wu, Ke Guo, Peng Xiao, Jiaming Sun
BACKGROUND: Repairing body wall defects is a critical step in the treatment of some congenital deformities, and this procedure may need the help from plastic surgeons. Although there are many articles about congenital deformities, body wall defects of these malformations are rarely studied as independent targets. METHODS: In this article, the authors present an LDT classification for congenital body wall defects according to the position of the defects, the tissue layers involved, and the surgical urgency, each of which is represented by letters L, D, and T, respectively...
September 19, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/29027723/the-diagnostic-yield-of-chromosomal-microarray-analysis-in-fetuses-with-increased-nuchal-translucency-a-french-multicentre-retrospective-study
#7
Matthieu Egloff, Bérénice Hervé, Thibaud Quibel, Sylvie Jaillard, Gwenaelle Le Bouar, Kevin Uguen, Anne-Hélène Saliou, Mylène Valduga, Estelle Perdriolle, Charles Coutton, Anne-Laure Coston, Aurélie Coussement, Olivia Anselem, Chantal Missirian, Florence Bretelle, Fabienne Prieur, Cécile Fanget, Christine Muti, Marie-Christine Jacquemot, Claire Beneteau, Claudine Le Vaillant, Michel Vekemans, Laurant J Salomon, François Vialard, Valerie Malan
OBJECTIVE: The aim of our study was to determine the frequency and nature of Copy Number Variants (CNVs) identified by chromosomal microarray analysis (CMA) in a large cohort of fetuses with a strictly isolated, increased nuchal translucency (NT) above or equal to 3.5 mm. METHODS: This is a retrospective, multicentre study including eleven French hospitals over a period between April 2012 and December 2015 in which 720 fetuses were analysed by rapid aneuploidy test and CMA...
October 13, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29027531/-costal-cartilage-structural-and-functional-changes-in-children-with-a-funnel-or-keeled-chest
#8
A V Kurkov, A B Shekhter, V S Paukov
Congenital chest wall deformities (CCWDs) in children are severe diseases leading to cosmetic defects and diseases of the respiratory and cardiovascular systems. The most common of these deformities are funnel-shaped (pectus excavatum, FD) and keeled (pectus carinatum, KD) ones. The pathogenesis of CCWDs and the role of costal cartilage structural and functional changes in their pathogenesis have now been not well studied, which makes it difficult to elaborate pathogenetic approaches to correcting these diseases...
2017: Arkhiv Patologii
https://www.readbyqxmd.com/read/29026816/aesthetic-refinements-in-forehead-flap-reconstruction-of-the-asian-nose
#9
Yen-Chang Hsiao, Chun-Shin Chang, Jonathan Zelken
BACKGROUND: Traditional paramedian forehead flap reconstruction exploits the aesthetic subunit principle. Refinements and outcomes of forehead flap nasal reconstruction largely reflect Western experience. Differences in ethnic Asian anatomy and wound healing may foster suboptimal outcomes. We modified methods to address Asian features by extending subunit and flap boundaries, minimizing flap thinning, and overbuilding the nasal framework to combat contraction and suboptimal scarring. METHODS: Between November 2010 and September 2015, 40 Asians were treated for nasal reconstruction with a modified forehead flap technique...
May 2017: Plastic Surgery
https://www.readbyqxmd.com/read/29026415/two-cases-of-parachute-tricuspid-valve-confirmed-by-three-dimensional-echocardiography
#10
Hedieh Alimi, Afsoon Fazlinezhad
BACKGROUND: Parachute tricuspid valve is a rare congenital malformations explained in the literature. In most cases, this malformation coexists with other congenital defects. The importance of this condition depends on its functional consequences. CASE REPORT: First case was a 52-year-old female patient presented with palpitation. She had a history of paroxysmal supraventricular tachycardia. Transthoracic echocardiography revealed large secundum type atrial septal defect and all the tricuspid valve leaflets appeared to be connected to a single calcified papillary muscle in right ventricle suggestive of parachute tricuspid valve...
March 2017: ARYA Atherosclerosis
https://www.readbyqxmd.com/read/29025550/congenital-abnormalities-of-the-pericardium
#11
REVIEW
Yuvrajsinh J Parmar, Ankit B Shah, Michael Poon, Itzhak Kronzon
Congenital abnormalities of the pericardium are a rare group of disorders that include congenital absence of the pericardium, pericardial cysts, and diverticula. These congenital defects result from alterations in the embryologic formation and structure of the pericardium. Although many cases are incidentally found, they can present as symptomatic, life-threatening disease. Owing to their rarity, many cases are inappropriately diagnosed. Alterations in the embryologic formation and structure may result in the formation of these congenital abnormalities...
November 2017: Cardiology Clinics
https://www.readbyqxmd.com/read/29024830/new-ocular-finding-in-baraitser-winter-syndrome
#12
Natalie Rall, Alejandro Leon, Ricardo Gomez, Jessica Daroca, Yves Lacassie
Baraitser-Winter syndrome was first described as a syndrome of mental retardation with bilateral ptosis, iris coloboma, widely spaced eyes, broad epicanthus, flattened nasal bridge, hypertelorism, and short stature (Baraitser and Winter, 1988; Baraitser-Winter- iris co, 2016). In a recent review of 42 cases, the phenotypic spectrum has broadened including high-arched eyebrows, short upturned nose tip, long philtrum, cleft lip and palate, abnormally shaped ears, deafness, congenital heart defects, microphthalmia, metopic ridge, microcephaly, pachygyria, progressive joint stiffness, epilepsy, syndactyly, and dystonia, among other less reported signs (Baraitser and Winter, 1988; Ganesh et al...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29024827/left-ventricular-non-compaction-with-ebstein-anomaly-attributed-to-a-tpm1-mutation
#13
Aleksandra Nijak, Maaike Alaerts, Cuno Kuiperi, Anniek Corveleyn, Bert Suys, Bernard Paelinck, Johan Saenen, Emeline Van Craenenbroeck, Lut Van Laer, Bart Loeys, Aline Verstraeten
Left ventricular non-compaction (cardiomyopathy) (LVN(C)) is a rare hereditary cardiac condition, resulting from abnormal embryonic myocardial development. While it mostly occurs as an isolated condition, association with other cardiovascular manifestations such as Ebstein anomaly (EA) has been reported. This congenital heart defect is characterized by downward displacement of the tricuspid valve and leads to diminished ventricular size and function. In an autosomal dominant LVN(C) family consisting of five affected individuals, of which two also presented with EA and two others with mitral valve insufficiency, we pursued the genetic disease cause using whole exome sequencing (WES)...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29024719/calcification-or-not-this-is-the-question-a-one-year-study-of-bovine-pericardial-vascular-patches-cardiocel%C3%A2-in-minipigs
#14
Aida Salameh, Wiebke Greimann, David Vondrys, Martin Kostelka
Objectives A main problem with bioprosthesis used for surgical correction of congenital cardiac malformation is their tendency to shrink and to calcify. Recently, a new material i.e. de-cellularised bovine pericardium (CardioCel(®)) was introduced in clinics. It was proposed that this new patch material should not calcify and should be particularly suitable for the correction of vascular defects in inborn cardiac diseases. The aim of our chronic minipig study was to evaluate the performance of CardioCel(®) patches implanted in aortic and pulmonary artery position, respectively...
October 9, 2017: Seminars in Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29024177/differential-regulation-of-two-flna-transcripts-explains-some-of-the-phenotypic-heterogeneity-in-the-loss-of-function-filaminopathies
#15
Zandra A Jenkins, Alison Macharg, Cheng-Yee Chang, Margriet van Kogelenberg, Tim Morgan, Sophia Frentz, Wenhua Wei, Jacek Pilch, Mark Hannibal, Nicola Foulds, George McGillivray, Richard J Leventer, Sixto García-Miñaúr, Stuart Sugito, Scott Nightingale, David M Markie, Tracy Dudding, Raj P Kapur, Stephen P Robertson
Loss-of-function mutations in the X-linked gene FLNA can lead to abnormal neuronal migration, vascular and cardiac defects and congenital intestinal pseudo-obstruction (CIPO), the latter characterised by anomalous intestinal smooth muscle layering. Survival in male hemizygotes for such mutations is dependent on retention of residual FLNA function but it is unclear why a subgroup of males with mutations in the 5' end of the gene can present with CIPO alone. Here we demonstrate evidence for the presence of two FLNA isoforms differing by 28 residues at the N-terminus initiated at ATG(+1) and ATG(+82) ...
October 12, 2017: Human Mutation
https://www.readbyqxmd.com/read/29024133/plasma-natriuretic-peptide-levels-in-fetuses-with-congenital-heart-defect-and-arrhythmia-a-single-center-prospective-study
#16
Takekazu Miyoshi, Takashi Umekawa, Hiroshi Hosoda, Takashi Asada, Akihiro Fujiwara, Ken-Ichi Kurosaki, Isao Shiraishi, Michikazu Nakai, Kunihiro Nishimura, Mikiya Miyazato, Kenji Kangawa, Tomoaki Ikeda, Jun Yoshimatsu, Naoto Minamino
OBJECTIVES: Diagnosing fetal heart failure remains challenging because it is difficult to know how well the fetal myocardium will perform as loading conditions change. In adult cardiology, natriuretic peptides (NPs) are established marker of heart failure. However, the number of studies investigating NP levels in fetuses is quite limited. The aim of this study was to evaluate the significance of plasma NP levels in the assessment of heart failure in fetuses with congenital heart defect (CHD) and arrhythmia...
October 11, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29023775/prenatal-sonographic-monitoring-of-progressive-cardiac-damages-caused-by-anti-ro-antibodies-a-case-report
#17
Fuanglada Tongprasert, Rekwan Sittiwangkul, Thitikarn Lerthiranwong, Theera Tongsong
Maternal autoantibodies to Ro/SSA are often linked to congenital heart block and rarely associated with structural defects. We describe the case of a fetus with anti-Ro-mediated second-degree block at 19 weeks, which progressed to a complete block, fibroelastosis, atrioventricular valve insufficiency, and semilunar valve stenosis/insufficiency at 20, 22, 24, and 26 weeks, respectively, although the fetus received transplacental anti-arrhythmic drugs. The 2150-g fetus was vaginally delivered at 35 weeks. An external pacemaker was inserted immediately after birth and replaced with permanent pacemaker at the age of 3 months...
October 12, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/29023497/characterization-of-pax9-variant-p20l-identified-in-a-japanese-family-with-tooth-agenesis
#18
Akiko Murakami, Shinji Yasuhira, Hisayo Mayama, Hiroyuki Miura, Chihaya Maesawa, Kazuro Satoh
Transcription factors PAX9 and MSX1 play crucial roles in the development of permanent teeth at the bud stage, and their loss-of-function variants have been associated with congenital tooth agenesis. We sequenced the coding regions of the PAX9 and MSX1 genes from nine patients with non-syndromic tooth agenesis, and identified a missense mutation, P20L, of PAX9 in a single familial case involving three patients in two generations. Identical mutation was previously reported by other authors, but has not been characterized in detail...
2017: PloS One
https://www.readbyqxmd.com/read/29021450/the-efficacy-of-a-genetic-analysis-of-the-bmpr2-gene-in-a-patient-with-severe-pulmonary-arterial-hypertension-and-an-atrial-septal-defect-treated-with-bilateral-lung-transplantation
#19
Shunsuke Tatebe, Koichiro Sugimura, Tatsuo Aoki, Saori Yamamoto, Nobuhiro Yaoita, Hideaki Suzuki, Haruka Sato, Katsuya Kozu, Ryo Konno, Kimio Satoh, Koji Fukuda, Osamu Adachi, Ryoko Saito, Norifumi Nakanishi, Hiroko Morisaki, Kotaro Oyama, Yoshikatsu Saiki, Yoshinori Okada, Hiroaki Shimokawa
Severe pulmonary arterial hypertension (PAH) rarely develops in children with an atrial septal defect (ASD), even those with a large defect. We herein report the case of a 27-year-old man with a moderate-sized secundum ASD and right ventricular failure due to severe PAH, which developed in his early teens. He was diagnosed as having a genetic mutation of the BMPR2 gene and was successfully treated with bilateral lung transplantation with ASD path closure. In patients with congenital heart disease, a genetic analysis may provide information about the lifetime risk of developing PAH...
October 11, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29018170/temperature-activated-ion-channels-in-neural-crest-cells-confer-maternal-fever-associated-birth-defects
#20
Mary R Hutson, Anna L Keyte, Miriam Hernández-Morales, Eric Gibbs, Zachary A Kupchinsky, Ioannis Argyridis, Kyle N Erwin, Kelly Pegram, Margaret Kneifel, Paul B Rosenberg, Pavle Matak, Luke Xie, Jörg Grandl, Erica E Davis, Nicholas Katsanis, Chunlei Liu, Eric J Benner
Birth defects of the heart and face are common, and most have no known genetic cause, suggesting a role for environmental factors. Maternal fever during the first trimester is an environmental risk factor linked to these defects. Neural crest cells are precursor populations essential to the development of both at-risk tissues. We report that two heat-activated transient receptor potential (TRP) ion channels, TRPV1 and TRPV4, were present in neural crest cells during critical windows of heart and face development...
October 10, 2017: Science Signaling
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