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Ocular Telangiectasia and Cerebellar Atrophy in Ataxia-Telangiectasia (Louis-Bar Syndrome).
Tremor Other Hyperkinet Mov (N Y)
January 2025
Department of Neurology, Medical University of Graz, Graz, Austria.
Background: Ataxia-telangiectasia (Louis-Bar syndrome) is a rare genetic disorder characterized by progressive ataxia, ocular telangiectasias, immunodeficiency and increased cancer risk due to impaired DNA repair.
Phenomenology Shown: Thorough clinical and subsequently radiological examination in a 19-year-old woman with a history of previously undiagnosed, progressive gait ataxia since early childhood, diffuse large B-cell lymphoma and severe combined immunodeficiency revealed the eponymous features of the disease, ocular telangiectasias and cerebellar atrophy, enabling targeted genetic testing.
Educational Value: Ocular telangiectasias represent an important clue for a diagnosis of ataxia-telangiectasia in young patients with progressive ataxia, implicating awareness of increased malignancy risk and treatment of immunodeficiency.
[Residential areas, travel burdens, and children with cancer: Analysis of mobility and mortality ratios using data from Japan's national population-based cancer registry].
Nihon Koshu Eisei Zasshi
January 2025
Graduate School of Engineering Science, Osaka University.
Objectives Although childhood cancer treatment has recently become centralized at specialized hospitals worldwide, the relationship between mortality ratios and living in rural areas or traveling long distances for treatment remains controversial. In the present study, we examined whether regional differences in patient mobility and mortality ratios exist in Japan.Methods We investigated 10,713 patients with cancer aged ≤18 years, diagnosed between 2016 and 2019, registered in the national cancer registry data.
View Article and Find Full Text PDFMetabolic Sequelae and Quality of Life in Early Post-Treatment Period in Adolescents with Hodgkin Lymphoma.
J Clin Med
January 2025
Department of Oncology and Hematology, Children's Hospital Zagreb, 10000 Zagreb, Croatia.
: The long-term consequences of intensive treatment for Hodgkin lymphoma (HL), including metabolic syndrome (MetS) and cardiovascular diseases, but also deteriorated quality of life (QoL), are present in many survivors of childhood HL. : Adolescents and young adults diagnosed with HL who continued the follow-up after successful treatment for HL were included. Anthropometric parameters, body composition, laboratory data, blood pressure values, compliance to the Mediterranean diet (MD), QoL and lifestyle habits were evaluated at the follow-up.
View Article and Find Full Text PDFHyaluronan-Mediated Motility Receptor (HMMR) Overexpression Is Correlated with Poor Survival in Patients with B-ALL.
Int J Mol Sci
January 2025
Experimental Oncology Laboratory, National Institute of Pediatrics, Mexico City 04530, Mexico.
Acute lymphoblastic leukemia (ALL) is a malignant neoplasm with the highest incidence in the pediatric population. Although the 5-year overall survival is greater than 85%, in emerging countries such as Mexico, the mortality rate is high. In Mexico, B-ALL is the most common type of childhood cancer; different characteristics suggest the presence of the disease; however, the prognosis is dependent on clinical and laboratory features, and no adverse prognostic molecular marker for B-ALL has yet been identified.
View Article and Find Full Text PDFAcute Neurotoxicity in Children Treated for Acute Lymphoblastic Leukemia and Lymphoblastic Lymphoma: A 10-Year Single-Centre Experience.
Children (Basel)
December 2024
Department of Oncology and Hematology, Children's Hospital Zagreb, Klaićeva 16, 10000 Zagreb, Croatia.
: Recent advances in childhood acute lymphoblastic leukemia (ALL) and lymphoblastic lymphoma (LL) management provide higher survival rates at the cost of increased toxicities. Acute neurotoxicity affects up to 10% of patients, requiring rapid recognition and treatment. : A retrospective observational study was performed to determine the frequency, clinical manifestations, radiological characteristics, treatment options and outcome of acute neurological adverse events in pediatric patients with lymphoid malignancies at the Department of Oncology and Hematology, Children's Hospital Zagreb, Croatia.
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