Miriam Gutiérrez-Jimeno
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View article: Increase in severe acute respiratory infections in children during the last phase of the COVID-19 pandemic
Increase in severe acute respiratory infections in children during the last phase of the COVID-19 pandemic Open
Objective. The COVID-19 pandemic has caused a variation in the circulation of respiratory pathogens. Our aim was to analyze the epidemiology of severe acute respiratory infections (SARI) in children during 3 years of the COVID-19 pandemic,…
View article: Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing
Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing Open
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, sarcoma…
View article: Case Report: The Value of Genomic Analysis in a Case of Megakaryoblastic Leukemia With Atypical Initial Manifestation
Case Report: The Value of Genomic Analysis in a Case of Megakaryoblastic Leukemia With Atypical Initial Manifestation Open
We 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 thank…
View article: Clinical Value of NGS Genomic Studies for Clinical Management of Pediatric and Young Adult Bone Sarcomas
Clinical Value of NGS Genomic Studies for Clinical Management of Pediatric and Young Adult Bone Sarcomas Open
Genomic 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 …
View article: Somatic and germline analysis of a familial Rothmund–Thomson syndrome in two siblings with osteosarcoma
Somatic and germline analysis of a familial Rothmund–Thomson syndrome in two siblings with osteosarcoma Open
Rothmund–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 eyelash…
View article: Severe 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
Severe 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 Open
View article: A multicenter national survey of children with SARS-CoV-2 infection admitted to Spanish Pediatric Intensive Care Units
A multicenter national survey of children with SARS-CoV-2 infection admitted to Spanish Pediatric Intensive Care Units Open
View article: Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma Open
In this study, approximately one-fourth of patients with osteosarcoma unselected for family history had a highly penetrant germline mutation requiring additional follow-up analysis and possible genetic counseling with cascade testing.
View article: Hospital mortality and positive blood culture with Difficult-to threat (DTR), Marseille, France
Hospital mortality and positive blood culture with Difficult-to threat (DTR), Marseille, France Open
View article: Severe Cardiac and Abdominal Manifestations Without Lung Involvement in a Child With COVID-19
Severe Cardiac and Abdominal Manifestations Without Lung Involvement in a Child With COVID-19 Open
Coronavirus disease 2019 (COVID-19) has become a worldwide pandemic, affecting humans of all ages. Clinical features of the pediatric population have been published, but there is not yet enough information to make a definitive description.…