Publications by authors named "R Cancho-Candela"
Background: TRAF7-related cardiac, facial, and digital anomalies with developmental delay (CAFDADD), a multisystemic neurodevelopmental disorder caused by germline missense variants in the TRAF7 gene, exhibits heterogeneous clinical presentations.
Methods: We present a detailed description of 11 new TRAF7-related CAFDADD cases, featuring eight distinct variants, including a novel one.
Results: Phenotypic analysis and a comprehensive review of the 58 previously reported cases outline consistent clinical presentations, emphasizing dysmorphic features, developmental delay, endocrine manifestations, and cardiac defects.
Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria, and intellectual deficits. Despite advances in therapy, the cognitive and adaptive profile remains unknown. Our study explores the adaptive profile of 37 PMM2-CDG patients, examining its association with parental stress and medical characteristics.
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- - Limb-girdle muscular dystrophies (LGMD) include various genetic muscle disorders, and the TRAPPC11-related LGMD R18 is noted for causing muscle weakness and intellectual disability, particularly in Roma individuals due to a specific genetic variant.
- - A study of 25 Roma individuals revealed that the c.1287+5G>A variant results in early muscle weakness and intellectual challenges, along with almost universal microcephaly and potential seizures triggered by early-life infections.
- - Findings suggest that the genetic variant not only affects muscle function but also disrupts mitochondrial health, revealing insights into its impact on energy production and cellular structure in affected individuals.
The Paediatric Palliative Care Unit has been transformed into Home Care Unit during the COVID-19 pandemic. Is this transformation here to stay?: Transformación de una Unidad de Cuidados Paliativos Pediátricos en Unidad de Atencion Domiciliaria a raíz de la pandemia COVID-19. ¿Llegó para quedarse?
An Pediatr (Engl Ed)
May 2022
Impact of COVID-19 in Immunosuppressed Children With Neuroimmunologic Disorders.
Neurol Neuroimmunol Neuroinflamm
January 2022
Background And Objectives: To investigate whether children receiving immunosuppressive therapies for neuroimmunologic disorders had (1) increased susceptibility to SARS-CoV2 infection or to develop more severe forms of COVID-19; (2) increased relapses or autoimmune complications if infected; and (3) changes in health care delivery during the pandemic.
Methods: Patients with and without immunosuppressive treatment were recruited to participate in a retrospective survey evaluating the period from March 14, 2020, to March 30, 2021. Demographics, clinical features, type of immunosuppressive treatment, suspected or confirmed COVID-19 in the patients or cohabitants, and changes in care delivery were recorded.