1,721,119 research outputs found
Transient beneficial effect of GH replacement therapy and topical GH application on skin ulcers in a boy with prolidase deficiency.
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Tryptophan metabolic pathway and neopterin in asthmatic children in clinical practice
No full textTryptophan metabolic pathway is involved in pathogenic mechanisms of asthma. This study aimed to evaluate tryptophan metabolites and neopterin in a group of asthmatic children. Tryptophan metabolites and neopterin were measured in asthmatic children (121, 71 males, 50 females, mean age 11.6 + 3.2 years) and well-matched healthy controls (63, 32 males, 31 females, mean age 10.7 + 2.6 years). Tryptophan, kynurenine, and neopterin levels were significantly higher in asthmatic children than in healthy controls (p < 0.01; p < 0.01; p = 0.0015 respectively). Tryptophan metabolites and neopterin are increased in asthmatic children; these mediators underline the complex mechanisms involved in the immune response in asthma
Kikuchi-Fujimoto disease complicated by peripheral neuropathy
No full textKikuchi-Fujimoto disease is a necrotizing lymphadenitis, mainly characterized by lymphadenopathy, fever, hepatosplenomegaly, nocturnal sweats, myalgia, weight loss, and arthralgia. Its diagnosis is most often based on lymph node biopsy. Differential diagnoses with several other diseases, e.g., malignant lymphoma, necrotizing lymphadenitis, and infective lymphadenopathies, may be challenging. Neurologic involvement is rarely reported in patients diagnosed with Kikuchi-Fujimoto disease. In this subset of patients, the great majority manifest signs involving the central nervous system. We present a 14-year-old boy with a severe form of Kikuchi-Fujimoto disease, complicated by peripheral neuropathy. This patient is interesting for both his age and his peculiar complication
Studying inborn errors of immunity to understand the pathogenic mechanisms underlying highly prevalent immune-mediated diseases
No full textInborn errors of immunity (IEIs), formerly known as primary immunodeficiencies (PIDs), are a rapidly growing category of diseases caused by impaired immune system development, function, or regulation. These mainly monogenic disorders are characterized by heterogeneous clinical manifestations, including increased susceptibility to infections, autoimmunity, autoinThe history of IEIs has been marked by critical milestones that revolutionized the presentConventionally known as rare conditions confined to the hematopoietic and lymphatic sy
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