Publications by authors named "M Jimenez del Rio"
Diagnostic wandering and delayed management are major issues in rare diseases. Here, we report a new Next-Generation Phenotyping (NGP) model for diagnosing Coffin Siris syndrome (CSS) on clinical photographs among controls and distinguish the different genotypes. This retrospective and prospective study, conducted from 1998 to 2023, included frontal and lateral pictures of confirmed CSS.
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- RORA is a gene linked to the development and function of the cerebellum, and this study explores the largest group of individuals with RORA-related neurodevelopmental disorders (RORA-NDD).
- The study involved 40 participants with various pathogenic variants of RORA, revealing a range of clinical features including developmental and intellectual disabilities, as well as cerebellar symptoms that can vary in onset and severity.
- Findings indicate that certain missense variants are associated with more severe cerebellar issues, and common elements of RORA-NDD include developmental disabilities, cerebellar symptoms, and different types of myoclonic epilepsy.
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- * In the study, 689 participants were categorized into three groups based on migraine resistance, with significant differences in the number and type of comorbidities found among them.
- * The findings suggest that higher comorbidity rates may contribute to the worsening of migraines, potentially making them harder to treat over time.
There is considerable interest in understanding the developmental origins and health implications of individual differences in brain structure and function. In this pre-registered study we demonstrate that a hidden subgroup within the general population-people with synesthesia (e.g.
View Article and Find Full Text PDFObjectives: Tracheostomy in the setting of head and neck cancer may be performed either electively for prophylactic airway protection in an ablative procedure, or as an emergency due to impending airway obstruction in the setting of an obstructing upper aerodigestive tract malignancy. Tracheostomy care has biopsychosocial implications, which may require a higher level of care from carers, post-acute care, or placement into care facilities. Existing database studies have largely excluded patients with a history of head and neck cancer.
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