Pathogenic but sweet: factor VIII inhibitor hits the hot spot
J Thromb Haemost. 2024 Sep;22(9):2416-2418. doi: 10.1016/j.jtha.2024.06.013. NO ABSTRACT PMID:39174227 | DOI:10.1016/j.jtha.2024.06.013
paediatrics
Pediatric neuromuscular channelopathies
Handb Clin Neurol. 2024;203:111-122. doi: 10.1016/B978-0-323-90820-7.00011-2. ABSTRACT Pediatric skeletal muscle channelopathies include a spectrum of conditions including nondystrophic myotonias and periodic paralyses. They are rare …
A Young Girl with Tongue Swelling
Ann Emerg Med. 2024 Sep;84(3):317-318. doi: 10.1016/j.annemergmed.2024.03.017. NO ABSTRACT PMID:39174214 | DOI:10.1016/j.annemergmed.2024.03.017
Dysregulation of cerebrospinal fluid metabolism profiles in spinal muscular atrophy patients: a case control study
Ital J Pediatr. 2024 Aug 22;50(1):154. doi: 10.1186/s13052-024-01726-6. ABSTRACT BACKGROUND: Spinal muscular atrophy (SMA) is a neurodegenerative disorder. Although prior studies have investigated the metabolomes …
Exploring the relationship between media use and depressive symptoms among gender diverse youth: findings of the Mental Health Days Study
Child Adolesc Psychiatry Ment Health. 2024 Aug 22;18(1):104. doi: 10.1186/s13034-024-00797-x. ABSTRACT BACKGROUND: Over the past decades, media use has become a key aspect of young …
Integrated prenatal and postnatal management for neonates with transposition of the great arteries: thirteen-year experience at a single center
Ital J Pediatr. 2024 Aug 22;50(1):153. doi: 10.1186/s13052-024-01730-w. ABSTRACT BACKGROUND: Transposition of the great arteries (TGA) is the most common cyanotic congenital heart defect in …
Comparative analysis of shear bond strength of MTA and Theracal PT with different restorative materials
BMC Oral Health. 2024 Aug 22;24(1):974. doi: 10.1186/s12903-024-04763-z. ABSTRACT BACKGROUND: This study aimed to compare the in vitro shear bond strength (SBS) of mineral trioxide …
Super-resolution reconstruction for early cervical cancer magnetic resonance imaging based on deep learning
Biomed Eng Online. 2024 Aug 22;23(1):84. doi: 10.1186/s12938-024-01281-5. ABSTRACT This study aims to develop a super-resolution (SR) algorithm tailored specifically for enhancing the image quality …
Angelman syndrome in Poland: current diagnosis and therapy status-the caregiver perspective: a questionnaire study
Orphanet J Rare Dis. 2024 Aug 22;19(1):306. doi: 10.1186/s13023-024-03292-w. ABSTRACT BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disease caused by imprinting disorders that impede …
Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency
BMC Pediatr. 2024 Aug 22;24(1):539. doi: 10.1186/s12887-024-05005-5. ABSTRACT BACKGROUND: Carbamoyl phosphate synthetase 1 (CPS1) deficiency (OMIM 237300), an autosomal recessive rare and severe urea cycle …