Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency

Medicine, Pediatrics, Obstetrics and Gynecology, Neurology, Medical Imaging,
Pyruvate Dehydrogenase   Complex Deficiency   Fetal MRI   Brain Abnormalities   Genetic Disorder   Second Trimester Diagnosis  

Abnormalities in Fetal Brain MRI in Pyruvate Dehydrogenase Complex Deficiency Background and Research Objective Pyruvate Dehydrogenase Complex Deficiency (PDCD) is a mitochondrial metabolic disorder caused by pathogenic variants in multiple genes, including PDHA1. Classic neonatal brain imaging features have been described, mainly focusing on devel...

A Vaping Cessation Text Message Program for Adolescent E-Cigarette Users: A Randomized Clinical Trial

Medicine, Pediatrics, Environmental and Public Health, Psychiatry, Clinical Psychology,
adolescents   e-cigarettes   vaping cessation   text message program   randomized clinical trial   public health  

E-cigarette Cessation SMS Program: A Randomized Clinical Trial Study Targeting Adolescent E-cigarette Users Background In recent years, e-cigarettes have become the most widely used tobacco product among American adolescents. Statistics from 2023 show that over 2.1 million adolescents reported current use of e-cigarettes, including 10% of high scho...

Modulation of Viability, Proliferation, and Stemness by Rosmarinic Acid in Medulloblastoma Cells: Involvement of HDACs and EGFR

Medicine, Pediatrics, Basic Medical Sciences, Oncology, Life Sciences, Biochemistry,
rosmarinic acid   epidermal growth factor receptor   histone deacetylase inhibitor   stem cell-like phenotype   medulloblastoma   brain tumor  

Pediatric medulloblastoma (MB) is the most common malignant pediatric brain tumor. Due to its unique molecular and clinical characteristics, the treatment of this type of tumor has been a focus of clinical research. Existing treatments mainly include maximal surgical resection, radiotherapy, and chemotherapy, but these treatments often lead to long...

Defining the Variant-Phenotype Correlation in Patients Affected by Noonan Syndrome with the RAF1:c.770C>T p.(Ser257Leu) Variant

Medicine, Pediatrics, Neurology, Cardiovascular System, Life Sciences, Genetics,
RAF1 gene   Noonan Syndrome   Hypertrophic cardiomyopathy   Phenotype correlation   Neonatal   Early intervention   Mortality rate  

Phenotypic Correlation Study of RAF1:c.770C>T p.(Ser257Leu) Variant in Noonan Syndrome Patients Academic Background Noonan syndrome (NS) is one of the most common RASopathies, primarily caused by the upregulation of RAS protein and mitogen-activated protein kinase (MAPK) signaling pathways. These disorders are characterized by facial dysmorphism, c...

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

Medicine, Pediatrics, Neurosurgery, Life Sciences, Genetics,
ERF gene   Noonan syndrome   craniosynostosis   developmental delay   facial features  

Correlation between Erf Gene Loss-of-Function Variants and Noonan Syndrome-like Phenotype - With or Without Craniosynostosis Research Background Members of the ETS transcription factor family play a crucial role in RAS-MAPK signal transduction, regulating the expression of “early response” genes and other functionally related genes. Among them, ETS...