Nasser F. AlSunbul

CARMIL2 deficiency is a rarely occurring, autosomal recessive immunodeficiency disease, manifested as an impairment in CD28-mediated T-cell costimulation, actin cytoskeleton dysregulation and a broad immunological disturbance across T, B and NK cell lineages. It has been strongly associated with an early onset of inflammatory bowel disease-like enteropathies, recurrent infections, dermatitis and eczema. While gastrointestinal involvement is well documented, celiac disease has not yet been reported in this context. We present a case of a 23-year-old Saudi male with genetically confirmed CARMIL2 deficiency who developed true celiac disease demonstrated through a comprehensive gastrointestinal evaluation, with an extensive diagnostic workup that included upper endoscopy with duodenal biopsies, histopathological examination and celiac serologies (tTG IgA, tTG IgG and DGP IgA/IgG).

Objectives: The purpose of this study was to translate and validate the Voice Activity and Participation Profile (VAPP), a comprehensive tool for assessing the impact of voice disorders on daily life activities and social participation, into Arabic and to test its reliability among voice disorders patients in Riyadh, Saudi Arabia \looseness-1 Methods: A descriptive, questionnaire-based validation study was conducted at two university hospitals from December 2023 to September 2024. The VAPP was translated using forward and backward translation methods from English into Arabic. The questionnaire's reliability and internal consistency were assessed using Cronbach's alpha and test-retest reliability. To measure the construct validity, exploratory factor analysis (EFA) was conducted. Discriminant validity was assessed using the Mann-Whitney U test, and reproducibility was evaluated using the intraclass correlation coefficient (ICC) Result: The study included 120 participants, of which 60 had voice complaints (VCG) and 60 were healthy HCG (HCG). The Arabic-VAPP (A-VAPP) demonstrated excellent reliability, with a Cronbach's alpha of 0.967 and ICC exceeding 0.979 (p < 0.001). Significantly higher scores were observed in the VCG compared to the HCG across job (p = 0.03), daily communication (p < 0.001), social communication (p = 0.01), and emotional impact (p < 0.001) domains. Receiver operating characteristic analysis further confirmed strong discriminative validity with an area under the curve of 0.960, sensitivity of 84%, and specificity of 100%. Conclusion: A-VAPP is a reliable and valid tool for assessing voice disorders in Arabic-speaking patients, making it suitable for both clinical practice and research.