Publications by authors named "S Hadj-Rabia"
Article Synopsis
- * A study examined 131 female patients with X-linked dominant incontinentia pigmenti (IP), finding that 36% produced autoantibodies against IFN-α and/or IFN-ω, significantly higher than age-matched controls.
- * The presence of these autoantibodies is linked to an abnormally small thymus and predisposes patients to life-threatening viral infections, while those without these autoantibodies do not face the same risk.
Article Synopsis
- Breaking bad news is a challenging communication task in medicine, prompting a study on the effectiveness of an active learning course for fifth-year students.
- Students were split into two groups: one received hands-on training with multidisciplinary discussions and video workshops, while the other only attended traditional classes.
- Results showed that the actively trained group scored significantly higher in communication skills during practical exams, indicating the training's effectiveness, but further research is needed for long-term validation.
Article Synopsis
- - Albinism is caused by a variety of genes (21 identified), with most cases following an autosomal recessive inheritance pattern, though one form is X-linked; about 70% of cases can be diagnosed through genetic analysis.
- - Of the undiagnosed cases, roughly 15% carry one pathogenic variant but may have undiscovered variants in non-coding regions; this research involved sequencing a group of 122 heterozygous patients.
- - From the study, 12 patients received additional diagnoses based on non-coding variants that affected RNA splicing, highlighting the need to investigate non-coding regions to improve diagnostic rates for genetic diseases like albinism.
Article Synopsis
- Infants with severe epidermolysis bullosa (EB) often face dehydration and malnutrition, but their nutritional needs are not well studied.
- A study looked at 27 newborns with EB to assess their nutritional status and found many had low sodium levels and needed extra fluids and sodium.
- The results suggest that these infants require higher food and nutrient intake than usual to grow properly and stay healthy, especially during their first month of life.