Results 91 to 100 of about 167,685 (306)

Genetic testing in Marfan syndrome [PDF]

, 2016
Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring.
Aragon-Martin, JA, Child, AH, Sage, K
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Impact of cardiovascular disease in the obstetric population

Advances in Physiology Education
Pregnancy triggers major cardiovascular adaptations to meet the demands of the growing fetus. While these changes are well tolerated in healthy individuals, they can reveal or exacerbate underlying cardiovascular disease.
Emily M. Hochreiner, Tina Takla, Marta Majewski, Michele Mele, Lawrence J. Mulligan   +4 more
doaj   +1 more source

Normal pregnancy is associated with an increase in thrombin generation from the very early stages of the first trimester [PDF]

, 2017
Background: Pregnancy is a hypercoagulable state associated with an increased risk of venous thrombosis, which begins during the first trimester, but the exact time of onset is unknown.
Bagot, C.N., Freeman, D.J., Jordan, F., Leishman, E., Onyiaodike, C.C.   +4 more
core   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Incidence and predictors of maternal cardiovascular mortality and severe morbidity in The Netherlands: a prospective cohort study. [PDF]

PLoS ONE, 2013
OBJECTIVE: To assess incidence and possible risk factors of severe maternal morbidity and mortality from cardiovascular disease in The Netherlands. DESIGN: A prospective population based cohort study.
Claartje M Huisman, Joost J Zwart, Jolien W Roos-Hesselink, Johannes J Duvekot, Jos van Roosmalen   +4 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Monocyte/HDL-cholesterol ratio as an early prognostic marker of pregnancy complications development [PDF]

Arhiv za farmaciju
Pregnancy complications increase the long-term cardiovascular risk for both the mother and the child. Inflammation is a common mechanism underlying the development of pregnancy complications and atherosclerosis. This study aims to investigate whether the
Vulić Jovana, Radojković Jelena, Vekić Jelena, Stefanović Aleksandra, Ardalić Daniela, Miković Željko, Gojković Tamara, Munjas Jelena, Zeljković Aleksandra   +8 more
doaj   +1 more source

Autoimmune lymphoproliferative syndrome in pregnancy: a case of favorable mother - fetal outcome in a well-controlled disease [PDF]

, 2014
The autoimmune lymphoproliferative syndrome(ALPS)is a disorder of abnormal lymphocyte survival caused by the dysregulation of theFasapoptotic pathway. The Fas geneis expressed at the maternal–fetal interface and is involved in the regulation of immune ...
Baek, Bleesing, Canale, Ciarmela, Correia-da-Silvia, Ferguson, Fuks, Hansford, Jerzak, Kwak-Kim, Lev, Oliveira, Rao, Rogers, Worth   +14 more
core   +1 more source