Results 161 to 170 of about 98,661 (266)

Biallelic SCO2 Variants Presenting as Motor‐Predominant Axonal Neuropathy With Complex IV Deficiency

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims SCO2 encodes a mitochondrial copper chaperone required for cytochrome c oxidase (COX) assembly and is classically associated with severe multisystem mitochondrial disease. We characterize a motor‐predominant axonal neuropathy presentation associated with biallelic SCO2 variants.
Adriana P. Rebelo, Katie Lutz, Tiffany Grider, Craig M. Zaidman, Michael E. Shy, Stephan Zuchner   +5 more
wiley   +1 more source

Hypertrophic Cardiomyopathy With Evolution to a Mixed Hypertrophic Noncompaction Phenotype. [PDF]

JACC Case Rep
Abadi NE, Abadi CA.
europepmc   +1 more source

Venous Thromboembolism in Pediatric Bone Sarcoma Patients: A 10‐Year, Single‐Institution Experience Encompassing the COVID‐19 Pandemic

Pediatric Blood &Cancer, Volume 73, Issue 8, August 2026.
ABSTRACT Background Osteosarcoma (OS) and Ewing sarcoma (EWS) are the most common primary bone cancers in children, but acute thrombosis is poorly characterized in this population. Our study evaluated the rates of venous thromboembolism (VTE) and associated risk factors in pediatric patients with bone sarcomas treated over a 10‐year period encompassing
Sarah Kappa, Shou Xu, Mark Zobeck, Sarah E. Sartain, Nino Rainusso, Lisa Wang, Nicole Montgomery, Paige Wheaton, Sarah Whittle   +8 more
wiley   +1 more source

Myopericarditis Presenting With McConnell's Sign: A Case Report and Literature Review. [PDF]

Cureus
Rector G, Bilal MF, Maag R.
europepmc   +1 more source

The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia

Pediatric Blood &Cancer, Volume 73, Issue 8, August 2026.
ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli, Seth Rotz, Masatoshi Takagi, Richa Sharma   +3 more
wiley   +1 more source

Secondary stroke evaluation in patients admitted for CRAO in a large national inpatient sample. [PDF]

Stroke Vasc Neurol
Doshi S, Bisen JB, Bains HK, Keshwani A, Cherayil N, Mirza RG.   +5 more
europepmc   +1 more source

Purulent Pericarditis Caused by Polymicrobial Periodontal Pathogens (<i>Tannerella forsythia, Fusobacterium nucleatum</i>, and <i>Porphyromonas gingivalis</i>): A Case Report and Literature Review. [PDF]

Infect Drug Resist
Wei BH, Da HJ.
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Tricuspid valve repair in infective endocarditis. [PDF]

Ann Cardiothorac Surg
Meidrops K, Hosseini S, Stradiņš P, Quintana E, Mestres CA.   +4 more
europepmc   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1807-1813, August 2026.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source