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The objectives of this work were to study the production of the cytokines Interleukin 1 (IL-1), Interleukin 6 (IL-6), and tumour necrosis factor (TNF) in elderly patients with severe pressure sores and to assess their potential contribution to the aggravation of malnutrition. Nineteen bedridden patients with stage III or IV pressure sores, 12 bedridden patients free from pressure sores, but at risk of them, and 12 control patients without risk of pressure sores were studied. Nutritional status was evaluated using anthropometry, serum albumin, prealbumin, retinol-binding protein analyses, and delayed hypersensitivity skin tests. Acute-phase proteins (APP), cortisol, and cytokines blood levels together with cytokine production were measured. Nutritional status was poor in patients with sores and their APP, and IL-6 blood levels were significantly increased; IL-1 and TNF serum concentrations were not elevated in these patients. A significant difference in cortisol levels was observed between patients with stage III and IV sores. A local cytokine origin (especially IL-6, and also IL-1) was demonstrated. Thus cytokines, mainly IL-6, produced by tissue cells in damaged areas together with cortisol may aggravate malnutrition and hypercatabolism in patients with sores.

Ataxia-telangiectasia (A-T) is a neurodegenerative and primary immunodeficiency disorder (PID) characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient’s needs. Besides the classical ataxia-telangiectasia (classical A-T) phenotype, a variant phenotype (variant A-T) exists with partly overlapping but some distinctive disease characteristics. Here we present a case series of 6 patients with classical A-T and variant A-T, which illustrates the phenotypic variability of A-T that can present in childhood with prominent extrapyramidal features, with or without cerebellar ataxia. We report the clinical data, together with a detailed genotype description, immunological analyses, and related expression of the ATM protein. We show that the presence of some residual ATM kinase activity leads to the clinical phenotype variant A-T that differs from the classical A-T. Our data illustrate that the diagnosis of the variant form of A-T can be delayed and difficult, while early recognition of the variant form as well as the classical A-T is a prerequisite for providing a correct prognosis and appropriate rehabilitation and support, including the avoidance of diagnostic X-ray procedures, given the increased risk of malignancies and the higher risk for side effects of subsequent cancer treatment.