Results 61 to 70 of about 48,190 (287)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Fetal growth restriction - clinical manifestations through the perspective of pathophysiological changes [PDF]

Ķazaķstannyṇ Klinikalyķ Medicinasy
Intrauterine restriction of fetal growth is one of the most interestings and nowadays intensively studied problems of modern obstetrics. Fetal growth restriction can lead to significant obstetric complications, as well as consequences after delivery ...
Capros Hristiana Capros, Voloceai Victoria, Cotelea Veronica, Mitriuc Diana, Pavlenco Angela   +4 more
doaj   +1 more source

Consequences of intrauterine growth restriction for the kidney [PDF]

, 2006
Low birth weight due to intrauterine growth restriction is associated with various diseases in adulthood, such as hypertension, cardiovascular disease, insulin resistance and end-stage renal disease.
Wijk, A. (Ans) van, Schreuder, M.F., Delemarre-van de Waal, H.A. (Henriette)   +2 more
core  

Magnetic resonance imaging of skull and brain parameters in fetuses with intrauterine growth restriction

, 2021
Objective: To compare fetuses with intrauterine growth restriction (IUGR) and those with normal growth, in terms of skull and brain measurements obtained by magnetic resonance imaging (MRI).
Da Silva Costa, F, De Oliveira Júnior, RE, Teixeira, SR, Marcolin, AC, Martins Santana, EF, Junior, JE, Júnior, EA   +6 more
core   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

Maternal undernutrition and intrauterine growth restriction

, 2013
Though many countries are on-track in reducing poverty, less than a quarter of developing countries are on-track for achieving the goal of halving undernutrition.
Ali, A., Lassi, Z., Salam, R., Das, J., Bhutta, Z.   +4 more
core   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Markers for presymptomatic prediction of preeclampsia and intrauterine growth restriction

, 2004
Preeclampsia and intrauterine growth restriction are both characterized by placental malfunction. The pathological processes of abnormal trophoblast invasion, partial absence of maternal spiral artery modification, increased apoptosis of trophoblast ...
Tjoa, May Lee, Oudejans, Cees B M, van Wijk, Inge J, Blankenstein, Marinus A, van Vugt, John M G   +4 more
core   +1 more source

Total Parenteral Nutrition Treatment in a Diabetic Pregnant Woman Complicated with Hyperemesis Gravidarum, Malnutrition, and Intrauterine Growth Restriction

Taiwanese Journal of Obstetrics & Gynecology, 2004
Objective: We report a case of a pregnant woman with diabetes, complicated with hyperemesis gravidarum, malnutrition, and intrauterine growth restriction, who was treated beneficially with total parenteral nutrition.
Chih-Wei Chen, Te-Yao Hsu, Shiuh-Young Chang, Men-Yin Tsai   +3 more
doaj   +1 more source