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Acute 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.
View Article and Find Full Text PDFGenetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.
Mol Genet Genomic Med
January 2025
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Background: The use of exome sequencing (ES) has helped in detecting many variants and genes that cause primary adrenal insufficiency (PAI). The diagnosis of PAI is difficult and can be life-threatening if not treated urgently. Consanguinity can impact the detection of recessively inherited genes.
View Article and Find Full Text PDFHomozygous missense variant in causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.
J Med Genet
January 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Biallelic pathogenic variants in cause a fatal autosomal recessive multisystem disorder characterized by recurrent autoinflammation, hypomyelination, progressive neurodegeneration, microcephaly, failure to thrive, liver dysfunction, respiratory chain defects and accumulation of glycogen in skeletal muscle. No missense variants in have been reported to date.We report a 6-year-old boy with microcephaly, global developmental delays, lower limb spasticity with hyperreflexia, epilepsy, abnormal brain MRI, failure to thrive, recurrent fevers and transaminitis.
View Article and Find Full Text PDFElectroencephalogram-Guided General Anesthesia in a Pediatric Patient With Alexander's Disease: A Case Report.
A A Pract
January 2025
From the Department of Anesthesiology, Perioperative and Pain Medicine, Stanford University School of Medicine, Palo Alto, California.
In this case, the electroencephalogram (EEG) was used to guide anesthesia care for a pediatric patient with Alexander's Disease undergoing serial intrathecal injections. Previous procedures using a standard maintenance propofol dose of up to 225 µg/kg/min led to postanesthetic recovery times of over 6 hours, requiring a neurology consult for noncoherence. The EEG assisted in guiding maintenance propofol dosing to 75 µg/kg/min, decreasing postanesthetic wash-off and postanesthesia care unit (PACU) recovery time by 50%.
View Article and Find Full Text PDF[A case of ischemic stroke in a patient with probable CADASIL].
Zh Nevrol Psikhiatr Im S S Korsakova
January 2025
Osh State University, Osh, Kyrgyzstan.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy CADASIL) is a rare inherited disorder in which thickening of the walls of small and medium-sized blood vessels blocks blood flow to the brain. Diagnosis of CADASIL is based on clinical presentation, neuroimaging findings, and genetic predisposition. This disease is uncommon in children; typically, symptoms manifest in individuals between the ages of 20 and 40, though some may exhibit symptoms later in life.
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