Clinical characteristics and growth hormone treatment in patients with prader-willi syndrome

Objective: To investigate clinical characteristics and response to growth hormone (GH) treatment in patients with Prader-Willi syndrome (PWS) in Turkey. Methods: The data of 52 PWS patients from ten centers was retrospectively analyzed. A nation-wide, web-based data system was used for data collection. Demographic, clinical, genetic, and laboratory data and follow-up information of the patients were evaluated. Results: The median age of patients at presentation was 1.5 years, and 50% were females. Genetic analysis showed microdeletion in 69.2%, uniparental disomy in 11.5%, imprinting defect in 1.9% and methylation abnormality in 17.3%. Hypotonia (55.7%), feeding difficulties (36.5%) and obesity (30.7%) were the most common complaints. Cryptorchidism and micropenis were present in 69.2% and 15.3% of males, respectively. At presentation, 25% had short stature, 44.2% were obese, 9.6% were overweight and 17.3% were underweight. Median age of obese patients was significantly higher than underweight patients. Central hypothyroidism and adrenal insufficiency were present in 30.7% and 4.7%, respectively. Hypogonadism was present in 75% at normal age of puberty. GH treatment was started in 40% at a mean age of 4.7±2.7 years. After two years of GH treatment, a significant increase in height SDS was observed. However, body mass index (BMI) standard deviation (SDS) remained unchanged. Conclusion: The most frequent complaints were hypotonia and feeding difficulty at first presentation. Obesity was the initial finding in 44.2%. GH treatment was started in less than half of the patients. While GH treatment significantly increased height SDS, BMI SDS remained unchanged, possibly due to the relatively older age at GH start. Keywords: Prader-Willi syndrome, endocrine dysfunction, growth hormone treatment, body compositio

Contact Dermatitis Due to Cocamidopropyl Betaine

Cocamidopropyl betaine (CAPB) amfoterik, sentetik bir deterjan olup kozmetik ve kişisel hijyen ürünlerinde bulunur ve hafif deri irritasyonlarına sebep olabilir. CAPB'e karşı allerjik kontakt dermatit ilk kez 1983 yılında yayınlanmıştır. Cocamidopropyl betaine içerikli ürünler giderek artması sonucu, kontakt duyarlılık prevalansı da artmaktadır. Yaygın kullanımlarına rağmen nadir olarak görülen CAPB sonrası gelişen bir allerjik kontakt dermatit olgusu sunulacaktır.Cocamidopropyl betaine (CAPB) is an amphoteric, synthetic detergent that has been increasingly used in cosmetics and personal hygiene products and induces a relatively mild skin irritation. This case evaluates allergic contact dermatitis developing due to CAPB. Allergy to CAPB was first reported in 1983. This case suffered from allergic contact dermatitis due to CAPB, which is a rare phenomenon despite widespread CAPB use

Hubungan pengetahuan dan kepuasan dokter keluarga terhadap kapitasi dengan kepuasan pasien peserta wajib Askes terhadap pelayanan dokter keluarga kajian di Kota Bengkulu dan Kabupaten Rejang Lebong Propinsi Bengkulu

Giriş: Atopik dermatit (AD) patogenezinde yer alan birçok faktörden birisi de allerjenlere duyarlılıktır. Besin allerjenlerinin önemli rolü olduğu bilinse de inhalan allerjenlerin de etken olduğuna dair kanıtlar artmaktadır. Çalışmada İstanbul'da yaşayan AD'li çocukların klinik özellikleri ve allerjik parametreleri ile birlikte allerjen duyarlılıklarının araştırılması amaçlandı.Gereç ve Yöntem: Çalışmaya Ocak 2010-Aralık 2013 tarihleri arasında İstanbul Üniversitesi İstanbul Tıp Fakültesi Çocuk Alerji ve İmmünoloji Bilim Dalı polikliniğinden AD tanısıyla takip edilen 2-18 yaş arası toplam 826 hasta alındı. Hastaların yaş, cinsiyet, ailede atopi öyküsü, ek allerjik hastalık varlığı, serum total IgE düzeyleri, tam kan sayımında eozinofil yüzdeleri ve allerji deri testi sonuçları kayıt edildi.Bulgular: Çalışmaya alınan ve yaşları 2-18 arası değişen hastaların 340'ı kız (%41.2), 486'sı erkekti (%58.8); yaş ortalaması 6.48 ±3.50 yıl idi. Hastaların %80'i atopik, %20'si non-atopikti. Ig E düzeyi>100kU/l olan hastalarda allerjen duyarlılığı daha fazla idi (p<0.001). Yaş arttıkça allerjen duyarlılığı da artmakta idi (p<0.001). Atopik dermatite eşlik eden allerjik solunum yolu hastalıklarının (astım ve/veya allerjik rinit) allerjen duyarlılığını etkilemediği görüldü (p:0.07). En sık tespit edilen allerjenler sırası ile ev tozu akarları, tatlı ilkbahar otu ve domuz ayrığı otu olarak saptandı.Sonuç: İstanbul'da yaşayan AD'li çocukların %80'inin atopik bünyeli ve ev tozu akarlarının da en önemli allerjen olduğu saptanmıştır. Uygun cilt bakımı ve klasik tedavi yaklaşımlarına rağmen kontrol altına alınamayan hastalarda çevresel faktörler arasında ev tozu allerjisi araştırılmalı ve gerekli önlemler alınmalıdır.Objective: One of the many factors that involved with the pathogenesis of atopic dermatitis (AD) is sensitivity to allergens. Food allergy is a known etiological factor and evidence connecting sensitivity to inhalant allergens with atopic dermatitis also keeps increasing. Our study aimed to investigate allergen hypersensitivity together with clinical features and allergic parameters of children with atopic dermatitis who live in İstanbul.Materials and Methods: A total of 826 children aged 2-18 years who had been followed-up with an AD diagnosis at the İstanbul University Medical School's Allergy and Immunology Department between January 2010 and December 2013 were included in our study. Age, gender, atopy history in the family, serum levels of total IgE, presence of additional allergic disease, eosinophil percentage in total blood count and the results of skin prick tests were recorded for these patients.Results: Among the patients included in the study, 41.2% (n:340) were female and 58.8% (n=486) were male, and the mean age was 6.48&plusmn;3.50 years. Atopic children made up 80% and non-atopic children 20% of the patient population. Patients whose Ig E level was &gt;100 were found to be more sensitive to allergens (p&lt;0.001). As age increased, sensitivity to allergens also increased (p&lt;0.001). Accompanying respiratory allergic diseases were not found to be related with sensitivity to allergens (p=0.07). The most frequent allergens in this study were house dust mite, sweet vernal grass, and cynodon dactylon.Conclusion: We found that 80% of the children with atopic dermatitis who lived in İstanbul were atopic and the most frequent allergen we came across was house dust mite. When dealing with AD patients who are resistant to therapy, house dust mite allergy should be considered and relevant precautions may be clinically useful

Development of the most comprehensive genetic test based on next generation sequencing for diagnosis of congenital hypothyroidism

...European Society of Human Genetic

Allergy Skin Tests in Inner-City Children with Allergic Rhinitis Living in İstanbul

Objective: Lifestyle and environmental factors are considered to play an important role in the large variations in the prevalence of symptoms of allergic rhinitis (AR) and allergen sensitization. The aim of the present study was to investigate allergen sensitivities together with clinical features and biochemical characteristics of urban children living in İstanbul. Methods: A total of 2822 patients aged between 2 and 18 years living in Istanbul city center and diagnosed with AR in our allergy polyclinic were included in the study. Results: There were 1095 (38.8%) female and 1727 (61.2%) male patients. The most common susceptibility was to house dust mites, the second was to sweet vernal grass, and the third was to cocksfoot grass. Conclusion: The present study demonstrated that house dust mite is the most common allergen in inner-city children with AR living in Istanbul. Screening house dust mite allergen in inner-city children may be a useful tool in the diagnosis, planning of allergy prevention, and immunotherapy of children suspected with respiratory allergies