Otitis Media in a New Mouse Model for CHARGE Syndrome with a Deletion in the Chd7 Gene

Otitis media is a middle ear disease common in children under three years old. Otitis media can occur in normal individuals with no other symptoms or syndromes, but it is often seen in individuals clinically diagnosed with genetic diseases such as CHARGE syndrome, a complex genetic disease caused by mutation in the Chd7 gene and characterized by multiple birth defects. Although otitis media is common in human CHARGE syndrome patients, it has not been reported in mouse models of CHARGE syndrome. In this study, we report a mouse model with a spontaneous deletion mutation in the Chd7 gene and with chronic otitis media of early onset age accompanied by hearing loss. These mice also exhibit morphological alteration in the Eustachian tubes, dysregulation of epithelial proliferation, and decreased density of middle ear cilia. Gene expression profiling revealed up-regulation of Muc5ac, Muc5b and Tgf-β1 transcripts, the products of which are involved in mucin production and TGF pathway regulation. This is the first mouse model of CHARGE syndrome reported to show otitis media with effusion and it will be valuable for studying the etiology of otitis media and other symptoms in CHARGE syndrome

Cystinosis: practical tools for diagnosis and treatment

Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of life. In older patients cystinosis can mimic idiopathic nephrotic syndrome due to focal and segmental glomerulosclerosis. Measuring elevated white blood cell cystine content is the corner stone for the diagnosis. The diagnosis is confirmed by molecular analysis of the cystinosin gene. Corneal cystine crystals are invariably present in all patients with cystinosis after the age of 1 year. Treatment with the cystine depleting drug cysteamine should be initiated as soon as possible and continued lifelong to prolong renal function survival and protect extra-renal organs. This educational feature provides practical tools for the diagnosis and treatment of cystinosis

Prevalence of antigliadin IgA antibodies in psoriasis vulgaris and response of seropositive patients to a gluten-free diet

Nikolai A Kolchak,1 Maria K Tetarnikova,2 Maria S Theodoropoulou,3 Alexandra P Michalopoulou,4 Demetrios S Theodoropoulos5 1Department of Hematology, Omsk State Medical Academy, Omsk, Russia; 2Dermatology Private Practice, Chelyabinsk, Russia; 3Department of Pharmacy, Trikala General Hospital, Trikala, Greece; 4Department of Philosophy and Social Studies, School of Philosophy, University of Crete, Rethymnon, Greece; 5Allergy Associates of La Crosse, Onalaska, WI, USA Introduction: The course of psoriasis relies on a variety of metabolic and immunological parameters. Identification of underlying pro-inflammatory conditions and their control is desired for optimal management. Background: Increased prevalence of serum markers for celiac disease has been reported among patients with psoriasis. The likelihood of occult celiac disease in a subpopulation of patients has been postulated and gluten-free diets have been reported to be effective. Patients and methods: The prevalence of gliadin IgA antibodies was assessed among patients with psoriasis in an urban population. The clinical effects of a strict gluten-free diet were followed. Results: Over a 2-year period, 97 patients with Psoriasis Area and Severity Index greater than 2.4 were recruited from a population followed in a dermatology clinic. Gliadin IgA antibodies were assessed in all participants and in 91 controls. Elevated gliadin IgA antibodies were found in 13 patients (14%) and two controls (2%). Values in five patients were assessed as greater than 30.0 U/mL or “strong positive” according to the manufacturer of the assay. All 13 patients were placed on a strict gluten-free diet without any other modifications in their ongoing treatment of psoriasis. Improvement of psoriatic lesions was observed in all patients with positive gliadin IgA antibodies but the decline in the Psoriasis Area and Severity Index score and the scaling down of pharmaceutical treatment was more pronounced in the five patients with strong positive gliadin IgA indicating an immune aberration amenable to diet changes.Conclusion: Prevalence of antigliadin IgA antibody is significant among patients with psoriasis not diagnosed with celiac disease or non-celiac gluten sensitivity. For all its limitations, antigliadin IgA testing can identify patients likely to benefit from gluten-free diets. Keywords: psoriasis, celiac disease, antigliadin antibodies&nbsp