Results 171 to 180 of about 73,645 (261)

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1‐Related Noonan Syndrome

Clinical Genetics, EarlyView.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

Echocardiographic Diagnosis of Ventricular Free Wall Rupture Complicating Takotsubo Syndrome: A Case Report. [PDF]

Cureus
Mizuno A.
europepmc   +1 more source

A Specific tRNA Half, 3'tiRNA‐GlyGCC, Regulates Hypoxic Pulmonary Artery Smooth Muscle Cell Proliferation via Myrf‐Mediated Endoplasmic Reticulum Stress

Cell Proliferation, EarlyView.
A schematic diagram illustrating how 3′tiRNA‐GlyGCC promotes the endoplasmic reticulum stress (ERS) and proliferation in hypoxic pulmonary artery smooth muscle cells (PASMCs) by inhibiting the expression of myelin regulatory factor (Myrf), ultimately leading to pulmonary hypertension (PH).
Lixin Zhang, Xiaoyu Guan, Xiangrui Zhu, Yingying Hao, Ya Xu, Hao Yuan, Danni Gao, Hongxia Du, Jiayu Li, Weiwei Cao, Cui Ma, Xiaoying Wang   +11 more
wiley   +1 more source

Puberty-Associated Emergence of Hypertrophic Cardiomyopathy: When Genetics Meets Growth. [PDF]

JACC Case Rep
Mashiah G, Schamroth N, Yaeger-Yarom G, Kapusta L, Lowenthal A.   +4 more
europepmc   +1 more source

Cardiovascular Autonomic Neuropathy and Indices of Heart Failure in Type 2 Diabetes: The CANCAN Study

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aim To quantify the association between cardiovascular autonomic neuropathy (CAN) and heart failure (HF) in individuals with type 2 diabetes (T2D). Materials and Methods Two hundred T2D individuals were recruited from two Danish outpatient clinics between 2021–2024. CAN was defined by abnormal cardiovascular autonomic reflex test results.
Jonas R. Schaarup, Lasse Bjerg, Christian S. Hansen, Daniel R. Witte, Henrik H. Thomsen, Jesper Fleischer, Rodica Pop‐Busui, Signe T. Andersen   +7 more
wiley   +1 more source

Microaxial Left Ventricular Assist Device as Bridge to Transplantation in Postinfarction Left Ventricular Pseudoaneurysm. [PDF]

JACC Case Rep
Callahan S, Horvat N, Yu M.
europepmc   +1 more source

Is There a Difference in Occurrence of Complications Between Adults With Hemoglobin SS and Hemoglobin SC Disease: An Extended Systematic Review

European Journal of Haematology, EarlyView.
ABSTRACT Sickle cell disease (SCD) is characterized by both acute and chronic complications. The clinical manifestation of these complications differs between genotypes. Given the large amount of research already published, this systematic review aims to offer a complete overview of types of sickle cell complications between adults in the most common ...
Martijn van der Meer, Kim Velsink, Wing H. Tong, Jan W. Schoones   +3 more
wiley   +1 more source

Stress-Induced Reversible Left Atrial and Mitral Annular Dilation Causing Severe Transient Central Mitral Regurgitation: First Reported Case. [PDF]

Circ Cardiovasc Imaging
Sun JP, Wang Y, Zhang J, Wang J, Luo Z.
europepmc   +1 more source

Project Sickle Cure: A Prospective, International Observational Study of Hematopoietic Cell Transplantation for Sickle Cell Disease

European Journal of Haematology, EarlyView.
ABSTRACT Background Sickle cell disease (SCD) is a chronic and life‐limiting hemoglobin and systemic vascular disease. While over 1000 people have undergone hematopoietic cell transplantation (HCT) over the last 40 years, long‐term disease‐specific and health‐related quality of life data are lacking.
Gregory M. T. Guilcher, Allistair Abraham, Staci D. Arnold, Christine Camacho‐Bydume, Jenny Duong, Scott Gillespie, Ann Haight, Monica L. Hulbert, Naresh Kumar, Katie Liu, Cherry Mammen, Aleksandra Mineyko, Abra Morgan, Alexander Ngwube, Robert S. Nickel, Araby Roberts, Fiona Schulte, Stephen Sands, Akshay Sharma, John T. Horan, Elizabeth O. Stenger   +20 more
wiley   +1 more source

Acute effects of marathon running on the heart: a systematic review and meta-analysis. [PDF]

BMJ Open Sport Exerc Med
Laily I, van Steijn N, Rizki P, de Vries R, Liastuti LD, Zwinderman AH, Verhagen E, Bakermans AJ, Jorstad HT.   +8 more
europepmc   +1 more source