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Myoclonic reflex and non-reflex seizures in a female child with Coffin-Lowry syndrome: Clinical vignette.
Epileptic Disord
January 2025
Child Neurology and Psychiatry Unit, Dipartimento materno-infantile, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Elective Discontinuation of Larotrectinib in Pediatric Patients With TRK Fusion Sarcomas and Related Mesenchymal Tumors.
J Clin Oncol
January 2025
Children's Hospital of Philadelphia/University of Pennsylvania, Philadelphia, PA.
Larotrectinib is a highly selective tropomyosin receptor kinase (TRK) inhibitor with efficacy in children with TRK fusion tumors. We evaluated patient outcomes after elective discontinuation of larotrectinib in the absence of disease progression in a protocol-defined wait-and-see subset analysis of eligible patients where treatment resumption with larotrectinib was allowed if disease progressed. We also assessed the safety and efficacy of larotrectinib in all pediatric patients with sarcoma.
View Article and Find Full Text PDFCardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDF[Infantile rhabdomyofibrosarcoma with EGFR kinase domain duplication: a clinicopathological analysis of three cases].
Zhonghua Bing Li Xue Za Zhi
February 2025
Department of Pathology, Foshan Traditional Chinese Medicine Hospital, Foshan 528000, China.
To investigate the clinicopathological and genetic features of infantile rhabdomyofibrosarcoma (IRFS) with EGFR kinase domain duplication (EGFR-KDD). The clinical, morphological and immunohistochemical features of three IRFS with EGFR-KDD diagnosed from January 2022 to January 2024 at Department of Pathology, Foshan Traditional Chinese Medicine Hospital, Foshan, China were retrospectively analyzed using PCR or next generation sequencing technique; and related literature was reviewed. There were 1 male and 2 females, aged at presentation ranging from 1 to 4 years.
View Article and Find Full Text PDFWater-Soluble Vitamins: Hypo- and Hypervitaminosis in Pediatric Population.
Pharmaceutics
January 2025
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 Rome, Italy.
Background/objectives: Water-soluble vitamins, comprising the B-complex vitamins and vitamin C, are essential for normal growth, cellular metabolism, and immune function in pediatric populations. Due to limited storage in the body, these vitamins require consistent intake to prevent deficiencies. Pediatric populations, particularly infants and young children, face a heightened risk of both deficiency and, in rare cases, toxicity due to varying dietary intake and increased developmental needs.
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