Results 181 to 190 of about 326,342 (329)

Impact of Secondary Prevention on Mortality in the Building Trades National Medical Screening Program: Effectiveness of Occupational High‐Risk Management

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Background Since 1997 the Building Trades National Medical Screening Program (BTMed) has offered medical exams to construction workers employed in US nuclear weapons facilities. The process consists of two steps: (1) a detailed work history interview; and (2) a medical exam.
Knut Ringen, John M. Dement, Marianne Cloeren, Sammy Almashat, William Grier, Stella Hines, Laura S. Welch, Kim Cranford, Scott Haas, Patricia Quinn, Anna Chen, Miles Fisher   +11 more
wiley   +1 more source

Links between Air Pollution and Aortic Diseases: Current Evidence for Future Prevention and Treatment. [PDF]

Int J Med Sci
Chansakaow C, Apichartpiyakul P, Chattipakorn SC, Chattipakorn N.   +3 more
europepmc   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Low Arterial Stiffness by Pulse Wave Analysis and Aortic Diseases. [PDF]

Circ Rep
Sakamoto A, Nakamura Y, Kagiyama N, Sato E, Fujita W, Kaneko T, Minamino T.   +6 more
europepmc   +1 more source

Causal associations between CD40/CD40L and aortic diseases: A mendelian randomization study. [PDF]

Front Genet, 2022
Cui X, Xuan T, Chen S, Guo X.
europepmc   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

2022 American Heart Association/American College of Cardiology guidelines for the diagnosis and management of aortic disease: lessons to be drawn

Heart Vessels and Transplantation, 2023
Fabio Massimo Oddi, Giulia Franceschini, Leonardo Oddi, Giorgio Fedeli   +3 more
doaj   +1 more source

Physician-modified low-profile Endo-Bentall device for treating complex aortic diseases involving the aortic root. [PDF]

J Vasc Surg Cases Innov Tech
Yoon WJ, Attizzani G, Halim M, Baeza C.
europepmc   +1 more source

Genetic Basis, New Diagnostic Approaches, and Updated Therapeutic Strategies of the Syndromic Aortic Diseases: Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos Syndrome. [PDF]

Int J Environ Res Public Health, 2023
Asta L, D'Angelo GA, Marinelli D, Benedetto U.   +3 more
europepmc   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source