Results 141 to 150 of about 185,757 (265)

Improving structural heart disease screening: AI-ECG and novice AI-guided focused cardiac ultrasound. [PDF]

NPJ Digit Med
Killalea MM, Borgeson J, Kane CJ, Kovac J, Greason C, Gulati MA, Schonfeld DA, Crestanello MM, Zacher J, Tsaban G, Lee E, Malins JG, Naser JA, Poterucha TJ, Friedman PA, Lopez-Jimenez F, Kane GC, Attia ZI, Thaden JJ, Pislaru SV, Bird JG.   +20 more
europepmc   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Smarter FoCUS: AI-guided focused cardiac ultrasound enables novice detection of left ventricular dysfunction. [PDF]

Eur Heart J Digit Health
Kane CJ, Borgeson J, Greason C, Malins JG, Anisuzzaman DM, Tsaban G, Schonfeld D, Jackson JI, Wood J, Lee E, Naser JA, Friedman PA, Lopez-Jimenez F, Kane GC, Oh JK, Pellikka PA, Poterucha TJ, Rosenbaum A, Attia ZI, Thaden JJ, Pislaru SV, Bird JG.   +21 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

FoCUS on Lazarus: autoresuscitation confirmed by focused cardiac ultrasound. [PDF]

Resusc Plus
Bianchi C, Maudet L, Schneider A, Garcia E, Pasquier M.   +4 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Developing and implementing a point-of-care cardiac ultrasound teaching module for medical students: perceptions, needs, and outcomes. [PDF]

Front Med (Lausanne)
Ali SKM, Ahmed RS, Taha MH.
europepmc   +1 more source

1,2‐propanediol reformulation improves tribromoethanol safety and reveals pontine GABRA1 enrichment as a candidate mechanistic correlate of anesthesia

Animal Models and Experimental Medicine, EarlyView.
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li, Yanming Chen, Xinyi Xiao, Guoheng Xu   +3 more
wiley   +1 more source

Artificial Intelligence-Based Automated Assessment of the Four-Chamber View in Fetal Cardiac Ultrasound Videos. [PDF]

Bioengineering (Basel)
Teraya N, Komatsu M, Takeda K, Shozu K, Harada N, Komatsu R, Sakai A, Aoyama R, Kaneko M, Asada K, Kaneko S, Iwamoto K, Nakashima A, Matsuoka R, Sekizawa A, Hamamoto R.   +15 more
europepmc   +1 more source

Genome‐wide network analysis identifies the lncRNA‐92467/miR‐205‐5p/PTPRM/CAMs axis in a rat model of hypoxic pulmonary hypertension

Animal Models and Experimental Medicine, EarlyView.
The pathogenesis of hypoxic pulmonary hypertension (HPH) remains unclear. In this study, we explored its key regulatory mechanisms using animal models, RNA sequencing, and cellular assays. We found that lncRNA‐92467 functions as a ceRNA, binding miR‐205‐5p, and thereby upregulating PTPRM, inhibiting abnormal proliferation and migration of endothelial ...
Yan‐Ying Shen, Yi‐Bing Chen, Xin Li, Xiang Xu, Ge Guo, Han‐Lu Li, Yong‐Ming Yao, Chun‐Lei Liu   +7 more
wiley   +1 more source