Cinemeducation is an effective tool to help students develop humanistic skills. However, there was a need for more studies to find out if this can also be utilized to improve the interest and satisfaction of students learning about rare diseases such as the inborn errors of metabolism. The aim was to introduce cinemeducation as part of early clinical exposure and teach first-year MBBS students in the Department of Biochemistry about inborn errors of metabolism. This was a quasi-experimental, cross-over study involving 100 MBBS students. Movie clips prepared from Lorenzo's Oil (for Lipid metabolism) and Extraordinary Measures (for Lysosomal Storage Disease) and corresponding paper-based cases; questionnaires and feedback forms were validated by expert group review. Students' academic performance was improved in the groups where the Extraordinary Measures movie was used for cinemeducation. Still, this effect was not observed when the movie Lorenzo's Oil was used. Both learners and facilitators were satisfied with cinemeducation. Cinemeducation was effectively introduced to teach inborn errors of metabolism in the Department of Biochemistry topic-dependent manner.
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http://dx.doi.org/10.1002/bmb.21868 | DOI Listing |
EBioMedicine
December 2024
Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France; National Center of Inborn Errors of Metabolism, University Regional Hospital Center of Nancy, Nancy F-54000, France. Electronic address:
J Clin Immunol
December 2024
Department of Pediatrics, Division of Pediatric Hematology Oncology and Bone Marrow Transplantation, King Hussein Cancer Center, 202 Queen Rania Street, Amman, 11941, Jordan.
Inborn errors of immunity (IEI) are a heterogenous group of rare monogenic disorders that affect innate or adaptive immunity, resulting in susceptibility to life-threatening infections and autoimmunity. Allogeneic hematopoietic cell transplantation (HCT) is a valuable curative option for children with IEI. We conducted a retrospective single-center study on the outcome of HCT in children with IEI.
View Article and Find Full Text PDFEpilepsia Open
December 2024
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity. These characteristics make it particularly challenging to establish their targeted therapies, and many of the IMEs are treated nowadays only symptomatically and supportively.
View Article and Find Full Text PDFClin Genet
December 2024
Univ. Lille, CHU Lille, ULR 7364 - RADEME, Lille, France.
Phosphoribosylaminoimidazole carboxylase (PAICS) deficiency, caused by biallelic variants in PAICS gene, is an inborn error of de novo purine synthesis. Only two patients from a consanguineous family have been reported, with multiple congenital malformations, resulting in early neonatal death. Molecular analysis identified a homozygous p.
View Article and Find Full Text PDFEpidemiol Mikrobiol Imunol
December 2024
Invasive meningococcal diseases (IMD) caused by Neisseria meningitidis are generally rare. They affect mostly selected age categories and risk groups of patients (in terms of age, comorbidities, or applied therapy), and the immune system and its defects may play an important modifying role. Meningococcal infections could be the first and only clinical sign of unrecognised immunodeficiency.
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