A novel FGG missense variant associated with fibrinogen storage disease in a large family from Quebec
Haemophilia. 2024 Apr 1. doi: 10.1111/hae.15006. Online ahead of print. NO ABSTRACT PMID:38561627 | DOI:10.1111/hae.15006
paediatrics
Clinical Analysis and Mental Health Survey of Hemophilia Carriers: a Cross-sectional Study
Curr Med Sci. 2024 Apr 2. doi: 10.1007/s11596-024-2855-5. Online ahead of print. ABSTRACT OBJECTIVE: Hemophilia carriers (HCs), who are heterozygous for mutations in the clotting …
Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency
Curr Med Sci. 2024 Apr 2. doi: 10.1007/s11596-024-2857-3. Online ahead of print. ABSTRACT OBJECTIVE: Glucose-6-phosphate isomerase (GPI) deficiency is a rare hereditary nonspherocytic hemolytic anemia …
Early Detection of Diabetic Peripheral Neuropathy in Diabetic Patients: A Cross-Sectional Study
Curr Diabetes Rev. 2024 Mar 28. doi: 10.2174/0115733998297210240325062747. Online ahead of print. ABSTRACT BACKGROUND: Diabetic Peripheral Neuropathy (DPN) is a chronic complication in Type 2 …
Cytogenetic and pathologic characterization of MYC-rearranged B-cell lymphomas in pediatric and young adult patients
J Hematop. 2024 Apr 2. doi: 10.1007/s12308-024-00579-6. Online ahead of print. ABSTRACT MYC-rearranged B-cell lymphoma (BCL) in the pediatric/young adult (YA) age group differs substantially …
Maternal circadian rhythm disruption affects neonatal inflammation via metabolic reprograming of myeloid cells
Nat Metab. 2024 Apr 1. doi: 10.1038/s42255-024-01021-y. Online ahead of print. ABSTRACT Disruption of circadian rhythm during pregnancy produces adverse health outcomes in offspring; however, …
Retrospective study of Ishiguro’s technique for mallet bone finger in children: long-term follow-up and analysis of predictors in outcomes
Int Orthop. 2024 Apr 1. doi: 10.1007/s00264-024-06162-z. Online ahead of print. ABSTRACT PURPOSE: There is no consensus on the optimal treatment of bony mallet finger …
Gestational epigenetic age and ADHD symptoms in childhood: a prospective, multi-cohort study
Mol Psychiatry. 2024 Apr 2. doi: 10.1038/s41380-024-02544-2. Online ahead of print. ABSTRACT Epigenetic age acceleration (EAA), defined as the difference between chronological age and epigenetically …
First use of intraventricular nicardipine in a pediatric patient with vasospasm secondary to meningitis: illustrative case
J Neurosurg Case Lessons. 2024 Apr 1;7(14):CASE23765. doi: 10.3171/CASE23765. Print 2024 Apr 1. ABSTRACT BACKGROUND: Cerebral vasospasm is commonly associated with adult aneurysmal subarachnoid hemorrhage …
Cervicothoracic ventral-dorsal rhizotomy for bilateral upper-extremity hypertonia in cerebral palsy: illustrative case
J Neurosurg Case Lessons. 2024 Apr 1;7(14):CASE2438. doi: 10.3171/CASE2438. Print 2024 Apr 1. ABSTRACT BACKGROUND: Management of medically refractory limb-specific hypertonia is challenging. Neurosurgical options …