Publications by authors named "Sonia Joychan"
Background: Patients with partial DiGeorge syndrome (pDGS) can present with immune dysregulation, the most common being autoimmune cytopenia (AIC). There is a lack of consensus on the approach to type, combination, and timing of therapies for AIC in pDGS. Recognition of immune dysregulation early in pDGS clinical course may help individualize treatment and prevent adverse outcomes from chronic immune dysregulation.
View Article and Find Full Text PDFArticle Synopsis
- The text discusses the importance of connecting SCID symptoms to specific genetic causes, especially with advances in newborn screening and gene therapy options.
- In western countries, X-linked IL2RG and ADA deficiency SCID are prevalent types that can be treated with gene therapy, but diagnosing genetic variants can be challenging due to their polymorphic nature and complexities in coding and non-coding regions.
- The authors provide examples of X-linked SCID cases where initial tests did not reveal pathogenic variants, highlighting the need for further functional studies and maternal X-inactivation tests to confirm diagnosis and ensure timely eligibility for gene therapy.
Background: Recent clinical studies found that a water drink prevented orthostatic hypotension in healthy subjects subjected to a tilt-table test. A water drink was tested as a method to decrease vasovagal donor reactions in high-school students.
Study Design And Methods: A total of 8894 high-school donations in Fall 2004 and 2005 were assigned to groups receiving or not receiving a 473-mL water drink after acceptance for whole-blood donation.