Results 21 to 30 of about 1,899,712 (390)

Challenges of congenital heart disease in grown-up patients

Swiss Medical Weekly, 2017
Nowadays, more than 90% of all children born with congenital heart disease (CHD) reach adult life. Although initially considered to be cured, the majority of them continue to need specialised follow-up because they require re-do interventions or are at
Markus Schwerzmann, Fabienne Schwitz, Corina Thomet, Alexander Kadner, Jean-Pierre Pfammatter, Kerstin Wustmann   +5 more
doaj   +1 more source

Congenital microcephaly [PDF]

, 2014
The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a ...
Agha, Ahmad, Arai, Banin, Bettencourt-Dias, Bicknell, Bicknell, Bolanos-Garcia, Bond, Bongers, Buchman, Caldecott, Caldecott, Capo-Chichi, Carney, Casey, Cimprich, Cizmecioglu, Croteau, Dehay, Dehay, Deriano, Domchek, Fish, Gatz, Gellert, Genin, Gilmore, Gineau, Gorlin, Griffith, Gruber, Guernsey, Han, Hanks, Heldin, Hemerly, Herzog, Heyer, Hickson, Hinchcliffe, Hughes, Issa, Jaglin, Jamieson, Kang, Kee, Kerzendorfer, Kim, Kiyomitsu, Kiyomitsu, Koch, Kumagai, Kuo, Lancaster, Lavin, Lee, Lee, Lee, Lobrich, Loveday, Loveday, Mahmood, Maréchal, Matsumoto, Matsuoka, Matsuura, Meindl, Mimitou, Mirzaa, Miyoshi, Miyoshi, Moldovan, Morris-Rosendahl, Moshous, Moynahan, Murga, Murray, Musacchio, Mühlhans, Noguchi, Novorol, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Ogi, Orii, Pilaz, Poirier, Ponting, Qvist, Rakic, Rauch, Riballo, Romaniello, Roos, Rudner, Schneider, Shah, Shaheen, Shaheen, Shamseldin, Shen, Shiloh, Sir, Sirbu, Sokka, Spalding, Spassky, Stewart, Stiff, Stokes, Symington, Tan, Thornton, van der Burg, van der Lelij, Varon, Verloes, Walczak, Waltes, Weedon, Weinfeld, Woodbine, Woods, Wu, Zimmerman   +129 more
core   +1 more source

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Nature Genetics, 2017
Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here, exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent–offspring trios, implicated rare inherited mutations in 1.8%, including a ...
S. Jin, Jason G. Homsy, Samir Zaidi, Q. Lu, S. Morton, S. DePalma, Xue Zeng, Hongjian Qi, Weni Chang, M. Sierant, Wei-chien Hung, S. Haider, Junhui Zhang, James R. Knight, R. Bjornson, C. Castaldi, Irina R. Tikhonoa, K. Bilguvar, S. Mane, Stephan J Sanders, S. Mital, M. Russell, J. Gaynor, J. Deanfield, A. Giardini, G. Porter, D. Srivastava, C. W. Lo, Yufeng Shen, W. Watkins, M. Yandell, H. Yost, M. Tristani-Firouzi, J. Newburger, A. Roberts, R. Kim, Hongyu Zhao, J. Kaltman, E. Goldmuntz, W. Chung, J. Seidman, B. Gelb, C. Seidman, R. Lifton, M. Brueckner   +44 more
semanticscholar   +1 more source

Nomenclature for Pediatric and Congenital Cardiac Care: Unification of Clinical and Administrative Nomenclature – The 2021 International Paediatric and Congenital Cardiac Code (IPCCC) and the Eleventh Revision of the International Classification of Diseases (ICD-11)

World journal for pediatric & congenital heart surgery, 2021
Substantial progress has been made in the standardization of nomenclature for paediatric and congenital cardiac care. In 1936, Maude Abbott published her Atlas of Congenital Cardiac Disease, which was the first formal attempt to classify congenital heart
J. Jacobs, R. Franklin, M. Béland, Diane E Spicer, S. Colan, Hal Walters, F. Bailliard, L. Houyel, J. S. St. Louis, L. Lopez, V. Aiello, J. Gaynor, O. Krogmann, H. Kurosawa, B. Maruszewski, G. Stellin, P. Weinberg, M. Jacobs, J. R. Boris, Meryl S. Cohen, A. Everett, J. Giroud, K. Guleserian, Marina L. Hughes, Amy L. Juraszek, S. Seslar, Charles W. Shepard, S. Srivastava, A. Cook, A. Crucean, Lazaro E Hernandez, R. Loomba, L. Rogers, S. Sanders, Jill J. Savla, E. S. Tierney, Justin T. Tretter, Lianyi Wang, M. Elliott, C. Mavroudis, C. Tchervenkov   +40 more
semanticscholar   +1 more source

Lactococcus lactis provides an efficient platform for production of disulfide-rich recombinant proteins from Plasmodium falciparum

Microbial Cell Factories, 2018
Background The production of recombinant proteins with proper conformation, appropriate post-translational modifications in an easily scalable and cost-effective system is challenging.
Susheel K. Singh, Régis Wendpayangde Tiendrebeogo, Bishwanath Kumar Chourasia, Ikhlaq Hussain Kana, Subhash Singh, Michael Theisen   +5 more
doaj   +1 more source

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

Circulation, 2018
This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial American Heart Association scientific statement on the genetic basis of ...
M. Pierpont, M. Brueckner, W. Chung, V. Garg, R. Lacro, A. McGuire, S. Mital, J. Priest, W. Pu, A. Roberts, S. Ware, B. Gelb, M. Russell   +12 more
semanticscholar   +1 more source

Association of Maternal Prepregnancy Diabetes and Gestational Diabetes Mellitus With Congenital Anomalies of the Newborn

Diabetes Care, 2020
OBJECTIVE To examine the association of maternal prepregnancy diabetes, gestational diabetes mellitus (GDM), and 12 subtypes of congenital anomalies of the newborn.
Yuxiao Wu, Buyun Liu, Yangbo Sun, Yang Du, M. Santillan, D. Santillan, L. Snetselaar, W. Bao   +7 more
semanticscholar   +1 more source

Congenital Candidiasis

Pediatrics & Neonatology, 2008
Congenital candidiasis presents with a variety of clinical features. We report two neonates with congenital candidiasis characterized by diffuse erythematous papules associated with pneumonia and respiratory distress. Candida pseudohyphae were identifiable in skin scrapings.
Shwu-Meei Wang, Chyong-Hsin Hsu, Jui-Hsing Chang   +2 more
openaire   +3 more sources

Significant familial differences in the frequency of abortion and Toxoplasma gondii infection within a flock of Charollais sheep [PDF]

, 2005
A study was carried out to investigate the frequencies of abortion and congenital Toxoplasma gondii infection within 27 families (765 individuals) of a pedigree Charollais sheep flock maintained on a working farm in Worcestershire, UK, since 1992 ...
Duncanson, P, Hide, G, Hughes, JM, Morley, EK, Smith, JE, Terry, RS, Williams, RH   +6 more
core   +2 more sources

Missed Opportunities for Prevention of Congenital Syphilis — United States, 2018

MMWR. Morbidity and mortality weekly report, 2020
Congenital syphilis is an infection with Treponema pallidum in an infant or fetus, acquired during pregnancy from a mother with untreated or inadequately treated syphilis.
Anne A. Kimball, Elizabeth A Torrone, K. Miele, L. Bachmann, Phoebe G. Thorpe, H. Weinstock, V. Bowen   +6 more
semanticscholar   +1 more source