Results 161 to 170 of about 338,427 (314)

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

A 39-Year-Old Woman with Chest Pain: The Importance of Incidental Imaging Findings

Anatolian Journal of Cardiology, 2023
Yavuzer Koza, Birkan Bedir, Hakan Taş, Fatih Alper   +3 more
doaj   +1 more source

Evaluation of the Maximum Velocity of Blood Flow in Descending Aorta in Athletes. [PDF]

J Clin Med
Christou GA, Kiortsis DN.
europepmc   +1 more source

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

Modernizing Aortic Dissection Classification in the Era of Endovascular and Hybrid Repair: Implications for Radiology Reporting. [PDF]

Korean J Radiol
Soon JJQ, Cheong WSC, Chua JME.
europepmc   +1 more source

Calcific aorta and coronary artery: two cases of calcific ascending aorta and descending aorta

, 2015
Calcific aorta is a disease of old age and is an independent risk factor for morbidity and mortality. Here, we present two patients with calcific aorta at different levels. One with a descending porcelain aorta, and modified Bentall's procedure was done.
Pillai, V, Karunakaran, J, Radhakrishnan, BK, Idhrees, AM, Panicker, VT   +4 more
core  

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

Superior Mesenteric Artery Syndrome in an Adolescent Presenting with Acute Massive Gastric Obstruction. [PDF]

Int Med Case Rep J
Chatzichidiroglou A, Karakasis P, Taousani E, Antonakou A.   +3 more
europepmc   +1 more source

Distribution of Gastrointestinal and Dietary Risk Factors Among U.S. Adults Classified as Having Iron Deficiency Anemia Across Diagnostic Thresholds

American Journal of Hematology, EarlyView.
Omar Al Ta’ani, Bridget M. Mayrer, Nicole M. Luche, Shazia Mehmood Siddique, Scott A. Peslak, Timothy S. Anderson, Ravy K. Vajravelu   +6 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source