Results 151 to 160 of about 33,456 (303)

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, EarlyView.
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

Comparative profiles of anomalous self-experiences and social cognition in clinical high risk for psychosis and autism spectrum disorder. [PDF]

Schizophr Res Cogn
Gundersen KB, Kristensen TD, Jeppesen ACE, Andresen J, Andersen HG, Fagerlund B, Fusar-Poli P, Nordentoft M, Ebdrup BH, Woods SW, Shenton ME, Nelson B, Accelerating Medicines Partnership® Schizophrenia (AMP® SCZ), Glenthøj LB.   +13 more
europepmc   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Surgical Outcomes of anomalous aortic origin of coronary arteries: early and mid-term results from a single-center experience. [PDF]

BMC Pediatr
Cao Y, Dong J, Li G, Wang Q.
europepmc   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Acute inferior STEMI in a unique setting: case report on anomalous circumflex and multivessel coronary artery disease. [PDF]

BMC Cardiovasc Disord
Salah Eldin Taha H, Mamdouh Shaker M.
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

AFTER THE WHITE CROW: INTEGRATING SCIENCE AND ANOMALOUS EXPERIENCE

, 2013
In this edited version of the 1996 ISSSEEM Presidential Address given at the annual conference in Boulder, Colorado, Dr. Wesch outlines some unique issues for "scientifically-inclined mystics" and "mystically-inclined scientists." The nature of anomalous
Wesch, Jerry E
core  

A Remedy for Historical Split Personalities: In Memory of Carlos S. Alvarado

Journal of Anomalous Experience and Cognition, 2021
Andreas Sommer
doaj   +1 more source

Minimally Invasive Coronary Artery Bypass With Composite Arterial Graft for High-Bifurcation Anomalous Aortic Origin of Right Coronary Artery. [PDF]

Cureus
Kurien GV, J LG, Raphy GL, Nair MP, Thottuvelil Narayanan SR.   +4 more
europepmc   +1 more source