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Congenital defects

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https://www.readbyqxmd.com/read/28545044/differentiation-of-spontaneously-contracting-cardiomyocytes-from-non-virally-reprogrammed-human-amniotic-fluid-stem-cells
#1
Aaron J Velasquez-Mao, Christopher J M Tsao, Madeline N Monroe, Xavier Legras, Beatrice Bissig-Choisat, Karl-Dimiter Bissig, Rodrigo Ruano, Jeffrey G Jacot
Congenital heart defects are the most common birth defect. The limiting factor in tissue engineering repair strategies is an autologous source of functional cardiomyocytes. Amniotic fluid contains an ideal cell source for prenatal harvest and use in correction of congenital heart defects. This study aims to investigate the potential of amniotic fluid-derived stem cells (AFSC) to undergo non-viral reprogramming into induced pluripotent stem cells (iPSC) followed by growth-factor-free differentiation into functional cardiomyocytes...
2017: PloS One
https://www.readbyqxmd.com/read/28544784/presynaptic-congenital-myasthenic-syndrome-with-a-homozygous-sequence-variant-in-lama5-combines-myopia-facial-tics-and-failure-of-neuromuscular-transmission
#2
Ricardo A Maselli, Juan Arredondo, Jessica Vázquez, Jessica X Chong, Michael J Bamshad, Deborah A Nickerson, Marian Lara, Fiona Ng, Victoria L Lo, Peter Pytel, Craig M McDonald
Defects in genes encoding the isoforms of the laminin alpha subunit have been linked to various phenotypic manifestations, including brain malformations, muscular dystrophy, ocular defects, cardiomyopathy, and skin abnormalities. We report here a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin alpha-5 subunit gene (LAMA5). The variant c.8046C>T (p.Arg2659Trp) is rare and has a predicted deleterious effect. The affected individual, who also carries a rare homozygous sequence variant in LAMA1, had muscle weakness, myopia, and facial tics...
May 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544770/review-article-screening-genetics-risk-factors-and-treatment-of-neonatal-cataracts
#3
REVIEW
Jinyu Li, Chun-Hong Xia, Eddie Wang, Ke Yao, Xiaohua Gong
Neonatal cataracts remain the most common cause of visual loss in children worldwide and have diverse, often unknown, etiologies. This review summarizes current knowledge about the detection, treatment, genetics, risk factors, and molecular mechanisms of congenital cataracts. We emphasize significant progress and topics requiring further study in both clinical cataract therapy and basic lens research. Advances in genetic screening and surgical technologies have improved the diagnosis, management, and visual outcomes of affected children...
May 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28544699/renal-anomalies-and-lymphedema-distichiasis-syndrome-a-rare-association
#4
Gabriela E Jones, Anna K Richmond, Osric Navti, Hatem A Mousa, Stephen Abbs, Edward Thompson, Sahar Mansour, Pradeep C Vasudevan
Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c.412-413insT) where five affected individuals from the youngest generation had congenital renal anomalies detected on prenatal ultrasound scan. These included four fetuses with hydronephrosis and one with bilateral renal agenesis...
May 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544620/phenotyping-cardiac-and-structural-birth-defects-in-fetal-and-newborn-mice
#5
REVIEW
Xiaoqin Liu, Andrew J Kim, William Reynolds, Yijen Wu, Cecilia W Lo
Mouse models are invaluable for investigating the developmental etiology and molecular pathogenesis of structural birth defects. While this has been deployed for studying a wide spectrum of birth defects, mice are particularly valuable for modeling congenital heart disease, given they have the same four-chamber cardiac anatomy as in humans. We have developed the use of noninvasive fetal ultrasound together with micro-computed tomography (micro-CT) imaging for high throughput phenotyping of mice for congenital heart defects (CHD) and other developmental anomalies...
May 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28542318/predicting-congenital-heart-defects-a-comparison-of-three-data-mining-methods
#6
Yanhong Luo, Zhi Li, Husheng Guo, Hongyan Cao, Chunying Song, Xingping Guo, Yanbo Zhang
Congenital heart defects (CHD) is one of the most common birth defects in China. Many studies have examined risk factors for CHD, but their predictive abilities have not been evaluated. In particular, few studies have attempted to predict risks of CHD from, necessarily unbalanced, population-based cross-sectional data. Therefore, we developed and validated machine learning models for predicting, before and during pregnancy, women's risks of bearing children with CHD. We compared the results of these models in a large-scale, comprehensive population-based retrospective cross-sectional epidemiological survey of birth defects in six counties in Shanxi Province, China, covering 2006 to 2008...
2017: PloS One
https://www.readbyqxmd.com/read/28541271/protein-altering-and-regulatory-genetic-variants-near-gata4-implicated-in-bicuspid-aortic-valve
#7
Bo Yang, Wei Zhou, Jiao Jiao, Jonas B Nielsen, Michael R Mathis, Mahyar Heydarpour, Guillaume Lettre, Lasse Folkersen, Siddharth Prakash, Claudia Schurmann, Lars Fritsche, Gregory A Farnum, Maoxuan Lin, Mohammad Othman, Whitney Hornsby, Anisa Driscoll, Alexandra Levasseur, Marc Thomas, Linda Farhat, Marie-Pierre Dubé, Eric M Isselbacher, Anders Franco-Cereceda, Dong-Chuan Guo, Erwin P Bottinger, G Michael Deeb, Anna Booher, Sachin Kheterpal, Y Eugene Chen, Hyun Min Kang, Jacob Kitzman, Heather J Cordell, Bernard D Keavney, Judith A Goodship, Santhi K Ganesh, Gonçalo Abecasis, Kim A Eagle, Alan P Boyle, Ruth J F Loos, Per Eriksson, Jean-Claude Tardif, Chad M Brummett, Dianna M Milewicz, Simon C Body, Cristen J Willer
Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls. We identify association with a noncoding variant 151 kb from the gene encoding the cardiac-specific transcription factor, GATA4, and near-significance for p.Ser377Gly in GATA4. GATA4 was interrupted by CRISPR-Cas9 in induced pluripotent stem cells from healthy donors...
May 25, 2017: Nature Communications
https://www.readbyqxmd.com/read/28541122/chance-of-surgery-in-adult-congenital-heart-disease
#8
Carianne L Verheugt, Cuno Spm Uiterwaal, Ilonca Vaartjes, Enno T van der Velde, A C Zomer, Folkert J Meijboom, Petronella G Pieper, Marco C Post, Hubert W Vliegen, Mark G Hazekamp, Diederick E Grobbee, Barbara Jm Mulder
Background Young patients with congenital heart disease reaching adulthood face mandatory transition to adult cardiology. Their new cardiologist needs to assess the chances of major future events such as surgery. Using a large national registry, we assessed if patient characteristics at the age of 18 years could predict the chance of congenital heart surgery in adulthood. Design and methods Of 10,300 patients from the CONCOR national registry, we used general patient characteristics at age 18 years, underlying congenital heart defect, history of complications, and interventions in childhood as potential predictors of congenital heart surgery occurring from age 18 years up to age 40 and 60 years...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28541007/compound-heterozygous-mutations-in-the-duox2-duoxa2-genes-cause-congenital-hypothyroidism
#9
Xiao Zheng, Shao Gang Ma, Man Li Guo, Ya Li Qiu, Liu Xue Yang
The mutations in the dual oxidase 2 (DUOX2) and dual oxidase maturation factor 2 (DUOXA2) genes can cause congenital hypothyroidism (CH). This study reports the pedigree with goitrous congenital hypothyroidism (GCH) due to the coexistence of heterozygous mutations in the DUOX2 and DUOXA2 genes. The two sisters with GCH were diagnosed with CH at neonatal screening and were enrolled in this study. The DUOX2, DUOXA2, and thyroid peroxidase (TPO) genes were considered for genetic defects screening. Family members of the patients and normal controls were also enrolled and evaluated...
July 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28540897/pediatric-nephrology-practice-in-jordan
#10
Kamal Akl, Issa Hazza
The practice of pediatric nephrology in a developing country such as Jordan is governed by social, cultural, and economic issues. The prevalence of consanguinity contributes to the emergence of rare heredofamilial disorders and congenital anomalies of the kidneys and urinary tract. Epigenetic factors modify underlying genetic defect predisposing to symptomatic crystalluria. Future research should be directed at prevention.
May 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28539665/copy-number-variants-and-candidate-gene-mutations-in-isolated-split-hand-foot-malformation
#11
Tonia C Carter, Robert J Sicko, Denise M Kay, Marilyn L Browne, Paul A Romitti, Zoё L Edmunds, Aiyi Liu, Ruzong Fan, Charlotte M Druschel, Michele Caggana, Lawrence C Brody, James L Mills
Split hand/foot malformation (SHFM) is a congenital limb deficiency with missing or shortened central digits. Some SHFM genes have been identified but the cause of many SHFM cases is unknown. We used single-nucleotide polymorphism (SNP) microarray analysis to detect copy-number variants (CNVs) in 25 SHFM cases without other birth defects from New York State (NYS), prioritized CNVs absent from population CNV databases, and validated these CNVs using quantitative real-time polymerase chain reaction (qPCR). We tested for the validated CNVs in seven cases from Iowa using qPCR, and also sequenced 36 SHFM candidate genes in all the subjects...
May 25, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28539259/congenital-anomalies-in-tunisia-frequency-and-risk-factors
#12
Meriem Aloui, Kaouther Nasri, Abdel Majid Ben Hamida, Raja Marrakchi, Soumeya Siala Gaïgi
BACKGROUND: Despite the high risk of recurrence of congenital malformations, there are no well-accepted preventive measures in developing countries like Tunisia. It is recommended that thorough epidemiological studies of congenital anomalies in this country are needed. The aim of this study is to assess the frequency and types of congenital anomalies in Tunisia and research some risk factors associated with occurrence of these anomalies. METHODS: In this retrospective study, all the fetuses who were autopsied during 21 years period from February 1991 to December 2011 (N=9678) at service of embryofetopathology in the Center of Maternity and Neonatology of Tunis (CMNT) were studied...
May 21, 2017: J Gynecol Obstet Hum Reprod
https://www.readbyqxmd.com/read/28539208/birth-weight-length-and-head-circumference-progression-and-impact-over-the-outcome-of-patients-with-congenital-heart-disease
#13
Daniélle Bernardi Silveira, Ernani Bohrer da Rosa, Jamile Dutra Correia, Patrícia Trevisan, Marilu Fiegenbaum, Ceres Andréia Oliveira, Carolina Geitens Grapiglia, Mauricio Rouvel Nunes, Rosana Cardoso Manique Rosa, Tatiana Diehl Zen, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa
BACKGROUND: There are few studies assessing the birth measures of patients with congenital heart disease (CHD). Our aim to evaluate their progression and impact over the outcome. METHODS: The cases consisted of patients with CHD during their first hospitalization in a reference cardiac and pediatric intensive care unit (ICU) from Southern Brazil. Controls were composed of patients with no clinical evidence of CHD hospitalized soon after cases. The cases underwent high-resolution karyotype and fluorescence in situ hybridization (FISH) for 22q11 microdeletion...
May 18, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28539207/effect-of-maternal-age-and-cardiac-disease-severity-on-outcome-of-pregnancy-in-women-with-congenital-heart-disease
#14
Eva Furenäs, Peter Eriksson, Ulla-Britt Wennerholm, Mikael Dellborg
BACKGROUND: There is an increasing prevalence of women with congenital heart defects reaching childbearing age. In western countries women tend to give birth at a higher age compared to some decades ago. We evaluated the CARdiac disease in PREGnancy (CARPREG) and modified World Health Organization (mWHO) risk classifications for cardiac complications during pregnancies in women with congenital heart defects and analyzed the impact of age on risk of obstetric and fetal outcome. METHODS: A single-center observational study of cardiac, obstetric, and neonatal complications with data from cardiac and obstetric records of pregnancies in women with congenital heart disease...
May 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28538409/a-case-report-of-pedigree-of-a-homozygous-mutation-of-the-steroidogenic-acute-regulatory-protein-causing-lipoid-congenital-adrenal-hyperplasia
#15
Rong Fu, Lin Lu, Jun Jiang, Min Nie, Xiaojing Wang, Zhaolin Lu
RATIONALE: Lipoid congenital adrenal hyperplasia (LCAH) is extremely rare, but is the most fatal form of congenital adrenal hyperplasia resulting from mutations in the steroidogenic acute regulatory protein (STAR) gene. LCAH arises from severe defects in the conversion of cholesterol to pregnenolone, the precursor of all steroids. PATIENT CONCERNS: A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28538061/clinical-experience-of-treatment-of-facial-malformations-in-oto-palato-digital-syndrome-a-familial-patient
#16
Tomoe Kira-Koizumi, Nobuyuki Mitsukawa, Tadashi Morishita, Shinsuke Akita, Yoshitaka Kubota, Kaneshige Satoh
Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial appearances and skeletal alterations. The authors report OPD1 in a mother and her 2 sons who had multiple common congenital anomalies. Both of the brothers were born with mild hearing impairment, frontal bossing with prominent supraorbital ridges, downslanting palpebral fissures, dental malocclusion, and palatal clefts. They underwent a series of aesthetic surgeries for their facial malformations with good cosmetic results...
May 19, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28534929/teratogens-a-public-health-issue-a-brazilian-overview
#17
Thiago Mazzu-Nascimento, Débora Gusmão Melo, Giorgio Gianini Morbioli, Emanuel Carrilho, Fernanda Sales Luiz Vianna, André Anjos da Silva, Lavinia Schuler-Faccini
Congenital anomalies are already the second cause of infant mortality in Brazil, as in many other middle-income countries in Latin America. Birth defects are a result of both genetic and environmental factors, but a multifactorial etiology has been more frequently observed. Here, we address the environmental causes of birth defects - or teratogens - as a public health issue and present their mechanisms of action, categories and their respective maternal-fetal deleterious effects. We also present a survey from 2008 to 2013 of Brazilian cases involving congenital anomalies (annual average of 20,205), fetal deaths (annual average of 1,530), infant hospitalizations (annual average of 82,452), number of deaths of hospitalized infants (annual average of 2,175), and the average cost of hospitalizations (annual cost of $7,758)...
May 22, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28533037/epidemiology-of-live-born-infants-with-nonimmune-hydrops-fetalis-insights-from-a-population-based-dataset
#18
Martina A Steurer, Shabnam Peyvandi, Rebecca J Baer, Tippi MacKenzie, Ben C Li, Mary E Norton, Laura L Jelliffe-Pawlowski, Anita J Moon-Grady
OBJECTIVE: To evaluate the incidence, etiology, and 1-year mortality of nonimmune hydrops fetalis (NIHF) and to identify risk factors for mortality in a contemporary population-based dataset. STUDY DESIGN: The California Office of Statewide Health Planning and Development maintains a database linking maternal and infant hospital discharge, readmissions, and birth and death certificate date from 1 year before to 1 year after birth. We searched the database (2005-2012) for infants with NIHF (identified by the International Classification of Diseases, 9th Revision, Clinical Modification code)...
May 19, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28532280/trends-and-characteristics-of-fetal-and-neonatal-mortality-due-to-congenital-anomalies-colombia-1999-2008
#19
Claudia Patricia Roncancio, Sandra Patricia Misnaza, Isabel Cristina Peña, Franklyn Edwin Prieto, Michael J Cannon, Diana Valencia
OBJECTIVE: To describe fetal and neonatal mortality due to congenital anomalies in Colombia. METHODS: We analyzed all fetal and neonatal deaths due to a congenital anomaly registered with the Colombian vital statistics system during 1999-2008. RESULTS: The registry included 213,293 fetal deaths and 7,216,727 live births. Of the live births, 77,738 (1.08%) resulted in neonatal deaths. Congenital anomalies were responsible for 7321 fetal deaths (3...
May 22, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28530678/the-complex-genetics-of-hypoplastic-left-heart-syndrome
#20
Xiaoqin Liu, Hisato Yagi, Shazina Saeed, Abha S Bais, George C Gabriel, Zhaohan Chen, Kevin A Peterson, You Li, Molly C Schwartz, William T Reynolds, Manush Saydmohammed, Brian Gibbs, Yijen Wu, William Devine, Bishwanath Chatterjee, Nikolai T Klena, Dennis Kostka, Karen L de Mesy Bentley, Madhavi K Ganapathiraju, Phillip Dexheimer, Linda Leatherbury, Omar Khalifa, Anchit Bhagat, Maliha Zahid, William Pu, Simon Watkins, Paul Grossfeld, Stephen A Murray, George A Porter, Michael Tsang, Lisa J Martin, D Woodrow Benson, Bruce J Aronow, Cecilia W Lo
Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is complex. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS...
May 22, 2017: Nature Genetics
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