Results 221 to 230 of about 33,124 (331)

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 993-1003, May 2026.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Tunnel-Like Myocardial Structure Formed by Sequential Left Atrial Appendage Closure and Resection as a Substrate for Macroreentrant Atrial Tachycardia. [PDF]

Cureus
Shibayama N, Miwa Y, Kuroiwa N, Ohtsuka T, Watanabe G.   +4 more
europepmc   +1 more source

Percutaneous left atrial appendage closure vs warfarin for atrial fibrillation: a randomized clinical trial.

Journal of the American Medical Association (JAMA), 2014
V. Reddy, H. Sievert, J. Halperin, S. Doshi, M. Buchbinder, P. Neužil, K. Huber, B. Whisenant, S. Kar, V. Swarup, N. Gordon, D. Holmes   +11 more
semanticscholar   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Left Atrial Appendage Closure in Patients Refusing Oral Anticoagulation: The LAAC-REFUSAL Study. [PDF]

J Am Heart Assoc
Galea R, Bini T, Korsholm K, Sedaghat A, Aminian A, Vij V, Perich Krsnik J, Chalkou K, Siontis G, Roten L, Nielsen-Kudsk JE, Räber L.   +11 more
europepmc   +1 more source

Cryptogenic Perirolandic Brain Abscess in an Otherwise Healthy Young Man

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT A previously healthy 19‐year‐old male presented with 1 day of transient right‐sided weakness, numbness, and gait disequilibrium after recent self‐limited sinonasal symptoms and minor nasal trauma with epistaxis. He was afebrile but with focal deficits, leukocytosis, and elevated C‐reactive protein.
Mazen Taman, Carl Porto, Jean‐Luc Lewis, Dimitrios Farmakiotis, Athar N. Malik   +4 more
wiley   +1 more source

Potential role of left atrial appendage closure in trauma patients with atrial fibrillation on anticoagulation. [PDF]

Trauma Surg Acute Care Open
Azani DZ, Bhakta H, Kazi A, Woods J, Love B, Jebbia M.   +5 more
europepmc   +1 more source

Stroke From Paradoxical Embolism in a Young Patient With Sickle‐Cell Disease and High Fetal Hemoglobin: A Diagnostic Challenge

Clinical Case Reports, Volume 14, Issue 5, May 2026.
Acute infarcts and microvascular ischemic changes in the brain of a young patient with Sickle‐Cell Disease despite High Fetal Hemoglobin. ABSTRACT Sickle‐cell disease (SCD) is characterized by abnormal hemoglobin (Hb) polymerization, leading to erythrocyte sickling and microvascular obstruction.
Yi Hui Luo, Navid Zuberi, Angelo Rizzolo, Margaret Warner, Stephane Isnard, Jean‐Pierre Routy   +5 more
wiley   +1 more source

Transseptal Puncture for Left Atrial Appendage Closure: A Consensus Document From the Second European Left Atrial Appendage Club. [PDF]

J Soc Cardiovasc Angiogr Interv
Rosseel L, Wunderlich NC, Berti S, Aminian A, Nielsen-Kudsk JE, Cruz-Gonzalez I, Räber L, Nombela-Franco L, Shuvy M, Freixa X, Garot P, De Backer O.   +11 more
europepmc   +1 more source

Percutaneous Left Atrial Appendage Closure

JACC: Cardiovascular Interventions, 2019
Giuseppe Patti, Antonio Rapacciuolo, Andrea Segreti, Gian Paolo Ussia, Costanza Goffredo, Germano Di Sciascio   +5 more
openaire   +1 more source