Results 151 to 160 of about 99,127 (266)

AI-augmented ECG for pre-echocardiography triage: a tool to optimize cardiac imaging utilization. [PDF]

Eur Heart J Digit Health
Swamy AK, Krishnan D, Umredkar PN, Hn A, Palani SR, Rajagopal V, Narayan P, Padmanabhan D.   +7 more
europepmc   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2110-2117, September 2026.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Adult cor-triatriatum sinistrum-a sinistral lesion with varied presentations: a case series. [PDF]

Eur Heart J Case Rep
Choudhury AR, Valakkada J, Ayyappan A, Alex A, Arunachalam VS, Sharma S.   +5 more
europepmc   +1 more source

What's Your Diagnosis? A Case of Extreme Thrombocytosis in a Dog

Veterinary Clinical Pathology, EarlyView.
Stephanie F. Anderson, King Long Hannah Lee, Megan Dietz, Sarah Guess, Laura White, Mara S. Varvil   +5 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2140-2150, September 2026.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Treatment of Acute M3 Thrombosis. [PDF]

JACC Case Rep
Syed BH, Pink K, Sunner GK, Hull R, Worku B, Perk G, Ramasubbu K, Jones MM, Rong L, Chan M, Reisman M, Mihatov N.   +11 more
europepmc   +1 more source

Strategies to Identify Echocardiogram Complexity to Support Learning Echocardiogram Interpretation

Canadian Journal of Cardiology
Thomas C. Raissi, Thivya Sivarajan, Aws Almufleh, Annabel Chen-Tournoux, Robin Ducas, Parvathy Nair, Matthew Sibbald, Graham C. Wong, Samuel C.B. Siu, Sarah Blissett   +9 more
openaire   +2 more sources

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2151-2156, September 2026.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Successful Management of Fetal Supraventricular Tachycardia With Flecainide in a Case Complicated by Early Hydrops Fetalis: A Case Report. [PDF]

Clin Case Rep
Faridpour A, Ghandi Y, Golbabaei A.
europepmc   +1 more source