Publications by authors named "Miriam Gutierrez-Jimeno"
Article Synopsis
- Epilepsy affects many children, and while antiepileptic drugs are the standard treatment, about 30% still experience seizures, leading to interest in alternative treatments like the ketogenic diet (KD).
- This review synthesizes evidence on KD for treating refractory epilepsy in children, using data from 21 reviews, with both systematic (8) and unsystematic (13) methodologies.
- Findings indicate that about 50% of patients may achieve a significant (>50%) reduction in seizures with KD, though side effects like vomiting, constipation, and diarrhea were common in both types of reviews.
Genetic predisposition is an important risk factor for cancer in children and adolescents but detailed associations of individual genetic mutations to childhood cancer are still under intense investigation. Among pediatric cancers, sarcomas can arise in the setting of cancer predisposition syndromes. The association of sarcomas with these syndromes is often missed, due to the rarity and heterogeneity of sarcomas and the limited search of cancer genetic syndromes.
View Article and Find Full Text PDFWe report the case of a 7-month-old female patient who developed acute megakaryoblastic leukemia 6 months after the appearance of skull bone lesions. Initial evaluation and diagnosis of this patient were challenging and only achieved thanks to genomic analysis by NGS (next generation sequencing). It is unusual for the initial manifestation of acute megakaryoblastic leukemia to be a skull bone lesion.
View Article and Find Full Text PDFGenomic techniques enable diagnosis and management of children and young adults with sarcomas by identifying high-risk patients and those who may benefit from targeted therapy or participation in clinical trials. Objective: to analyze the performance of an NGS gene panel for the clinical management of pediatric sarcoma patients. We studied 53 pediatric and young adult patients diagnosed with sarcoma, from two Spanish centers.
View Article and Find Full Text PDFRothmund-Thomson syndrome (RTS) is characterized by a rash that begins in the first few months of life and eventually develops into poikiloderma. Associated symptoms are alterations in the teeth, sparse hair, thin eyebrows, lack of eyelashes, low stature, bone abnormalities, hematological illnesses, gastrointestinal disease, malnutrition, cataracts, and predisposition to cancer, principally to bone tumors and skin cancer. Diagnostic certitude is provided by a genetic study involving detection of pathogenic variants of the gene.
View Article and Find Full Text PDFSevere manifestations of SARS-CoV-2 in children and adolescents: from COVID-19 pneumonia to multisystem inflammatory syndrome: a multicentre study in pediatric intensive care units in Spain.
Crit Care
November 2020
Article Synopsis
- The study examines children admitted to Pediatric Intensive Care Units (PICUs) with Multisystem Inflammatory Syndrome (MIS-C) related to COVID-19, comparing their characteristics to those with other COVID-19-related conditions.
- Of the 74 children recruited, 61% met MIS-C criteria, showing they were older and more likely to have no significant prior medical history than non-MIS-C patients.
- MIS-C patients displayed a higher prevalence of symptoms like fever, diarrhea, and shock, alongside differing laboratory results, and were treated differently than non-MIS-C patients, receiving more corticosteroids and fewer invasive ventilation treatments.
Importance: Osteosarcoma, the most common malignant bone tumor in children and adolescents, occurs in a high number of cancer predisposition syndromes that are defined by highly penetrant germline mutations. The germline genetic susceptibility to osteosarcoma outside of familial cancer syndromes remains unclear.
Objective: To investigate the germline genetic architecture of 1244 patients with osteosarcoma.