Publications by authors named "L Grigull"

A major challenge faced by patients with rare diseases (RDs) often stems from delays in diagnosis, typically due to nonspecific clinical symptoms or doctors' limited experience in connecting symptoms to the underlying RD. Using patient-oriented questionnaires (POQs) as a data source for machine learning (ML) techniques can serve as a potential solution. These questionnaires enable patients to portray their day-to-day experiences living with their condition, irrespective of clinical symptoms.

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Purpose: Pain and anxiety-inducing interventions have a major impact on pediatric patients. Pain reduction by virtual reality (VR) during port and vein punctures is well studied. This study investigates peri-interventional reduction of pain, anxiety and distress using VR compared to the standard of care (SOC) in a pediatric oncology outpatient clinic.

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Article Synopsis
  • * A 3-year study, TRANSLATE NAMSE, analyzed data from 1,577 patients, revealing that 32% received molecular diagnoses involving 370 distinct causes, primarily uncommon.
  • * The research showed that combining next-generation sequencing with advanced phenotyping methods improved diagnostic efficiency and helped identify new genotype-phenotype associations, particularly in neurodevelopmental disorders.
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Rational/aims And Objectives: Ward rounds are a core routine for interprofessional communication and clinical care planning: Health care professionals and patients meet regularly and it encourages patients to actively participate. In paediatric oncology, the long treatment process, the serious diagnosis, and involvement of both patients and their parents in shared-decision-making require specific ward round skills. Despite its high value for patient-centred care, a universal definition of ward round is lacking.

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