Amaç: Serolojik tanı testlerinin gelişmesi ile çölyak hastalığının tipik olmayan bulgularını taşıyan hastalara da tanı konulması kolaylaşmıştır. Bu çalışmanın amacı yeni çölyak hastalığı tanısı konulan hastalarda başvuru bulgularının araştırılmasıdır. Yöntem: Çölyak hastalığı tanısı alan 60 hastanın başvuru yakınmaları ve antropometrik verileri retrospektif olarak araştırıldı. Çölyak hastalığı tanısı serolojik değerlendirme ve ince bağırsak biyopsisinde villöz atrofi saptanması ile konuldu. Hastalar başvuru yakınmaları ve bulgularına göre gastrointestinal sistem (GİS) bulgularıyla başvuranlar, GİS dışı bulgularla başvuranlar ve yakınması olmayan hastalar olmak üzere üç gruba ayrıldı. Bulgular: Hastaların başvuru sırasında ortalama yaşı 8.6 ± 4.7 yıl idi. 11 hasta (%18.3) GİS bulgularıyla (ishal, kabızlık), 35 hasta (%58.3) GİS dışı bulgularla (büyüme geriliği, kas güçsüzlüğü, anemi) başvurmuştu. 14 hastanın ise (%23.4) başvuru sırasında yakınması yoktu, tarama amacıyla serolojik tetkikler istenmişti ve tanı konulmuştu. 3 hastada (%5) tanı sırasında obesite saptandı. Sonuç: Çalışmamız çölyak hastalığı tanısı alan hastaların çoğunluğunun klasik olmayan gastrointestinal sistem dışı bulgularla başvurduğunu veya taramalar sırasında saptandığını göstermektedir. Bu durum, tüm dünyada hastalığın klasik olmayan GİS dışı bulgularının da dikkatle değerlendirilmesi ve serolojik tetkiklerin bu hastalarda istenmesi ile tanı almalarından kaynaklanmaktadır.
Introduction and objectives: The purpose of this study was to evaluate patients diagnosed with 22q11.2 deletion syndrome and determine the clues directing to diagnosis and evaluation of immunological findings for excellent management of the disease. Material and methods: Thirty-three pediatric patients with 22q11.2 deletion syndrome diag-nosed between 1998 and 2019 at Pediatric Immunology Division of Ege University Faculty of Medicine and SBU Izmir Dr Behcet Uz Children’s Education and Research Hospital were evaluated. Results: This study includes the largest case series reported from Turkey. Congenital car-diac anomalies were the most common pathology associated with the syndrome (90.9%). Hypocalcemic symptoms were observed in 13 patients (40%). Twenty-two of the 33 (66.6%) patients were diagnosed before two years of age. Autoimmune diseases, dysmorphic facial findings, recurrent infections, growth retardation, and speech impairment were other clues for diagnosis in older patients. Clinical spectrum and immunological abnormalities of this syn-drome are quite variable. All T-cell subset counts were less than 5th percentile below median by age in one patient (3%) and 10 patients had normal all T-cell subset counts (30.3%). Overall, 69.6% of the patients had normal IgG, IgA, and IgM levels and two patients had panhypogam-maglobulinemia. Recurrent infections were revealed in 75.7% of the patients during follow-up. Conclusions: Presence of cardiac anomaly is more helpful in the diagnosis, especially under two years of age. Patients with immunologically high or standard risk did not show any differ-ence in terms of numbers and severity of infections and autoimmunity.
Objective: Asthma is one of the most common chronic diseases of childhood. Many studies have shown that education positively affects asthma control and patients’ quality of life. In this study, it was aimed to measure the awareness levels of children who have been under observation for a long time and who underwent Allergen Specific Immunotherapy (AIT). Methods: Patients with asthma, asthma & allergic rhinitis and/or rhinoconjunctivitis who received subcutaneous AIT between July 2019 and December 2019 were included in our prospective case-control study. A questionnaire was applied to each patient, in which both the levels of awareness related to their disease and AIT, as well as their knowledge of the allergens and prevention measures they were sensitive to were measured. The results were examined. Age, gender, type of allergic diseases, allergen type, AIT time were evaluated statistically. Results: 82 cases (48 boys and 34 girls) were included in the study. The number of patients who know the name of the disease correctly is 68 (82.9%); The number of patients who knew allergens to be sensitive was found to be 47 (57.3%). It was observed that 15%-72% of the cases had information about asthma disease. Age, gender and diseases of the patients were not statistically different. Conclusion: In our study, it was observed that our children were highly aware of especially about sports and environmental protection methods. It is essential to raise awareness of patients and parents for increase treatment success and control the asthma.
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