Results 141 to 150 of about 436,508 (289)

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Pathways of the determinants of unfavourable birth outcomes in Kenya

, 2003
This paper explores the pathways of the determinants of unfavourable birth outcomes, such as premature birth, the size of the baby at birth, and Caesarean section deliveries in Kenya, using graphical loglinear chain models. The results show that a number
Diamond, Ian, Madise, Nyovani, Magadi, Monica, Smith, Peter   +3 more
core  

Hypertensive Disorders in Pregnancy: A 5-year Analysis of the Wartime and Postwar Period in South-Western Region of Bosnia and Herzegovina [PDF]

, 2009
Hypertensive disorders are among the most common complications in pregnancy and a major cause of perinatal morbidity and mortality. The aim of this study was to investigate the risk factors and adverse perinatal outcomes of pregnancies in mothers with ...
Božo Petrov, Mladenka Naletilić, Oleg Petrović, Vajdana Tomić, Vedran Bjelanović   +4 more
core   +1 more source

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

‘I Don't Babysit’: Stay‐at‐Home Dads' Perspectives and Experiences Within Australian Society

Australian Journal of Social Issues, EarlyView.
ABSTRACT Stay‐at‐home‐dads are an emerging group in Australia, impacted by societal assumptions and expectations. However, there is a scarcity of research on the perspectives and experiences of fathers assuming stay‐at‐home dad roles within Australian society.
Elyse Manie, Patricia Taylor, Hayley McKenzie, Norma Barrett   +3 more
wiley   +1 more source

Sleepiness in pregnancy and adverse perinatal outcomes

Pregnancy
Background Sleep disorders in pregnancy have been associated with adverse pregnancy outcomes including hypertensive disorders of pregnancy, preterm birth, and gestational diabetes mellitus, yet these findings are largely from retrospective studies. Using
Rachel Friedlander, Xiaoning Huang, Phyllis Zee, Sadiya S. Khan, Philip Greenland, Francesca L Facco, Judith Chung, William A. Grobman, Shalini Manchanda, Uma M. Reddy, George R. Saade, Robert M. Silver, Lynn M. Yee   +12 more
doaj   +1 more source

I Wanted to Be Able to Stand on My Own Two Feet First—Younger Parents Exiting Homelessness and Care and Their Aspirations

Australian Journal of Social Issues, EarlyView.
ABSTRACT This qualitative study examines the aspirations, motivations and support needs of 15 young parents in South Australia with experiences of out‐of‐home care (OOHC) or homelessness. Most participants aimed to delay parenting to achieve financial stability, education and personal development, but faced unplanned pregnancies due to inadequate ...
Tim Moore, Stewart McDougall
wiley   +1 more source

Residential exposure to traffic emissions and adverse pregnancy outcomes [PDF]

, 2010
Motor vehicle traffic emissions are the single largest contributor to ambient air pollution in many developed countries and it has been suggested that these emissions can affect outcomes of pregnancy.
Bower, Carol, Cook, Angus, Nassar, Natasha, Pereira, Gavin, Weinstein, Philip   +4 more
core   +1 more source

The Global Airways in Practice: Long‐term Effects of Mepolizumab With or Without FESS on Type 2 Inflammation in Patients With CRSwNP

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is a type 2 inflammatory disease often associated with asthma. The global airway hypothesis suggests bidirectional inflammatory interactions between upper and lower airways. Mepolizumab, an anti–IL‐5 therapy, treats conditions systemically, while functional endoscopic sinus surgery ...
Jens Tidemandsen, Vibeke Backer, Anne Sophie Homøe, Thomas H. L. Jensen, Kasper Aanæs, Howraman Meteran, Morten Hostrup, Lukas Moesgaard, Christiane Haase, Peter G. Gibson   +9 more
wiley   +1 more source