Results 291 to 300 of about 520,580 (355)

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Effect of Sacubitril/Valsartan or Enalapril on Left Ventricular Function in Patients With Hematologic Malignancies Treated With Bone Marrow Transplantation: A Randomized Controlled Trial. [PDF]

JACC Adv
Katogiannis K, Ikonomidis I, Farmakis D, Thymis J, Stamouli M, Koliou GA, Makavos G, Tsilivarakis D, Vythoulkas D, Tsirigotis P.   +9 more
europepmc   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

The impact of type 2 diabetes on left ventricular function in hypertensive patients: a three-dimensional speckle-tracking imaging study. [PDF]

Front Cardiovasc Med
Qingmei Y, Xiaoyan C, Jianxiu F.
europepmc   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Outcomes of Coronary Artery Bypass Grafting in Patients With Impaired Left Ventricular Function and the Role of Preoperative Myocardial Viability. [PDF]

Cureus
Aasim M, Aziz R, Mohsin AU, Khan R, Zahid A, Awais M, Marquez Roa LA, Shaukat N, Ikram J.   +8 more
europepmc   +1 more source

Recovery of left ventricular function after surgery for aortic and mitral regurgitation with heart failure. [PDF]

Int J Cardiol Cardiovasc Risk Prev
Lai WT, Chen IC, Hsiung MC, Lin TC, Huang KC, Chang CY, Wei J.   +6 more
europepmc   +1 more source

Cardiac compressed sensing real-time cine for the assessment of left ventricular function: a large sample size analysis. [PDF]

Quant Imaging Med Surg
Wang Z, Wang Z, An J, Yuan Y, Pang J, He Y.   +5 more
europepmc   +1 more source

Echocardiographic Left Ventricular Function in the Third Year After COVID-19 Hospitalization: A Follow-Up Pilot Study in South-East of Romania. [PDF]

Medicina (Kaunas)
Vlase CM, Gutu C, Bogdan Goroftei RE, Boghean A, Iordachi TFD, Arbune AA, Arbune M.   +6 more
europepmc   +1 more source