Results 181 to 190 of about 232,794 (224)

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt, Chantal Janelle, Valancy Miranda, Ghalib Bardai, Frank Rauch   +4 more
wiley   +1 more source

Ultrasound-based incidence of coarctation of the aorta in true and false positive fetuses. [PDF]

Sci Rep
Chen G, Li N, Wei ZA, Zhao W, Guo X, Chen Y, Geng X, Peng Y, Gao BL, Ge S, Mi J.   +10 more
europepmc   +1 more source

Impaired myocardial deformation and aortic distensibility by cardiac MRI in girls with Turner syndrome. [PDF]

Sci Rep
Batouty NM, Shokeir FA, Sobh DM, Gadelhak B, Laimon W, Salem NA, Hussein MA, Tawfik AM.   +7 more
europepmc   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

The Feasibility of a Beating-Heart Transplant From Brain-Dead Donors. [PDF]

Transpl Int
Vendramin I, Sponga S, Di Lorenzo A, Nalon S, Bortolotti U, Livi U, Lechiancole A.   +6 more
europepmc   +1 more source

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

Comprehensive assessment of aortic flow before and after aortic valve replacement in an ex vivo porcine model with four-dimensional flow magnetic resonance imaging. [PDF]

Interdiscip Cardiovasc Thorac Surg
Saisho H, Balks MF, Scharfschwerdt M, Schaller T, Sadat N, Aboud A, Ensminger S, Frydrychowicz A, Fujita B, Oechtering TH.   +9 more
europepmc   +1 more source

Successful right transbrachial cerebral angiography in a patient with aberrant right subclavian artery: A technical note. [PDF]

Radiol Case Rep
Tamura N, Umehara T, Yano Y, Fujita T, Kishima H.   +4 more
europepmc   +1 more source

In vivo toxic and lethal cardiorespiratory effects of a synthetic quaternary ammonium salt derivative of haloperidol in mice

Animal Models and Experimental Medicine, EarlyView.
Hematoxylin–eosin (H&E) stains of the heart, liver, lung, and kidney show acute toxicity. Abstract Background To investigate the toxicity of N‐n‐butyl haloperidol iodide (F2), a quaternary ammonium salt derivative of haloperidol, in mice for potential therapeutic purposes. Methods The acute median lethal dose (LD50) of F2 was determined using the Bliss
Jilin Liao, Binger Lu, Jinhua Yang, Xiaowan Wang, Shuxian Li, Hongbo Fu, Fenfei Gao   +6 more
wiley   +1 more source

Case Report: Maintaining a balance between vascular access patency and stable dissection status in a hemodialysis patient with unrepaired type A aortic dissection. [PDF]

Front Cardiovasc Med
Lai Q, Chen L, Gao X, Tie H, Wan Z.
europepmc   +1 more source