Results 151 to 160 of about 150,358 (291)

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Effect of preoperative SGLT2 inhibitor use on postoperative acute kidney injury in patients with type 2 diabetes undergoing surgery: A causal inference study using routinely collected data

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Aims To assess whether preoperative sodium‐glucose co‐transporter 2 inhibitor (SGLT2i) use reduces the odds of postoperative acute kidney injury (AKI) in patients with type 2 diabetes undergoing surgery. Methods We conducted a target trial emulation using inverse probability of treatment weighting, utilising routinely collected data from a ...
Frank M. Gao, Kartik Kishore, Dinesh Pandey, Hossein Jahanabadi, Meg Stevens, Ashani Lecamwasam, Leonid Churilov, Elif I. Ekinci   +7 more
wiley   +1 more source

Personalized Surgical Tactics for an Adult Patient with Mitral Insufficiency and Dextrocardia with Situs Inversus Totalis. [PDF]

Braz J Cardiovasc Surg
Kozlov BN, Petlin KA, Lelik EV, Afanasieva NL, Arsenyeva YA, Chernykh YN, Kim EB.   +6 more
europepmc   +1 more source

Primary cardiac T‐cell rich large B‐cell lymphoma causing aortic stenosis with metastasis in a Warmblood

Equine Veterinary Education, EarlyView.
Summary An 18‐year‐old Warmblood mare was presented to the Royal Veterinary College Equine Referral Hospital for investigation of progressive periocular and facial swelling, weight loss and tachycardia. Physical examination additionally identified bilateral pansystolic (grade 5/6 basilar left‐sided, 2/6 right‐sided), cardiac murmurs, submandibular ...
S. E. Talbot, F. Z. X. Lean, H. M. Martineau, B. Dunkel, J. Reed   +4 more
wiley   +1 more source

GPR18 Deletion in Mice Inversely Affects Vasoactive Signaling and Passive Biomechanical Properties of the Thoracic Aorta and Femoral Artery. [PDF]

Int J Mol Sci
De Moudt S, Herzine A, Rodrigues ML, Collin M, Bäck M, Yen FT, Mercier N.   +6 more
europepmc   +1 more source

Zebrafish as a model for Catel–Manzke syndrome—identification and characterization of the zebrafish TGDS ortholog

The FEBS Journal, EarlyView.
Zebrafish Tgds, when expressed as a recombinant protein, catalyzes the dehydration of UDP‐D‐glucose, the initial step in the formation of 6‐deoxyhexoses. Corresponding Tgds mutations found in Catel–Manzke syndrome patients lead to reduced enzymatic activity and stability.
Maria Rosaria Coppola, Deianira Bellitto, Erfan Asgari, Virginia Bazzurro, Giorgia Casucci, Francesco Piacente, Matteo Bozzo, Davide Ceresa, Costantino Parisi, Cecilia Winata, Simona Candiani, Michela Tonetti   +11 more
wiley   +1 more source

Stanford Type B Aortic Dissection in an Adult Patient With Unrepaired Coarctation of the Aorta. [PDF]

J Investig Med High Impact Case Rep
Ramcharan P, Katwaroo A, Maharaj M, Seecheran V, Pereira N, Chan A, Seecheran R, Bhagwandass N, Seecheran N.   +8 more
europepmc   +1 more source

Intravascular Lithotripsy to Facilitate Extraction of Very Old Cardiac Implantable Electronic Devices Leads

Journal of Cardiovascular Electrophysiology, EarlyView.
ABSTRACT Background One of the challenges encountered when extracting transvenous leads with long dwell times is the presence of dense calcifications encasing the leads. This is the most likely reason for failure to advance a laser extraction sheath.
Jamie Kowal, Travis Richardson, George H. Crossley   +2 more
wiley   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

The Swedish CArdioPulmonary bioImage Study re‐examination: Rationale, design, methods, and management of incidental findings

Journal of Internal Medicine, EarlyView.
Abstract Objectives To describe the rationale, design and data collection procedures of the Swedish CArdioPulmonary bioImage Study (SCAPIS) re‐examination, which, in its further scope, aims to quantify and explain the development of atherosclerosis, pathological cardiovascular ageing, longitudinal decline in lung function and the malignant ...
Elin Good, Göran Bergström, Anders Blomberg, Viiu Blöndal, Gunnar Engström, Erika Fagman, Klas Gränsbo, Shabab Hasan, Shadi Jalali, Tomas Jernberg, Åse Johnsson, Ioannis Katsoularis, Jeanette Kuhl, Andrei Malinovschi, Lina Malm, Vibeke Sparring, Eva Swahn, Richard Ssegonja, Jelmer Westra, Mischa Woisetschläger, Carl Johan Östgren, Emil Hagström   +21 more
wiley   +1 more source