Meckel-Gruber syndrome, which is firstly described by Friedrich Meckel and Georg B. Gruber, is an autosomal recessive disorder that is characterized triad of occipital encephalocele, bilateral renal dysplasia and polydactyly. Because of the genetic heterogeneity, multiple organs can be affected. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. We have reported a male baby born at 37-week gestation, who has occipital encephalocele, polydactyly and cystic dysplasia of both kidneys. As a result of these clinical findings, Meckel-Gruber Syndrome is suspected for his baby. This study is presented to draw attention to the Meckel Gruber Syndrome which has high risk of recurrence and early diagnosis by ultrasonographic screening can be confident.

Objective: Periostin, an extracellular matrix protein, is related to the eosinophilic airway inflammation. There is no specific marker in allergen immunotherapy to evaluate clinical response. We aimed to investigate the serum periostin levels in the children who receive allergen immunotherapy. Materials and Methods:Sixteen patients between 8-18 years (12.7±2.8 years) with allergic rhinitis and/or asthma due to grass pollen hypersensitivity and 30 healthy subjects (11.7±2.6 years) were included. Demographic data, eosinophil counts, skin prick tests and the specific IgE levels of the patients are recorded. Symptom scores, visual analog scales, medication scores were determined and the serum periostin levels were measured in the beginning, 4th and 12th months of the allergen immunotherapy. Results:The symptom scores for rhinitis in the 4th month showed significant improvements in all of the patients (p<0.05). Nine patients with allergic rhinitis accompanied by asthma, showed significant improvements in 12th month symptom score for asthma (p=0.018). A significant correlation was detected between the initial serum periostin levels and the symptom scores for the eye (r=0.668, p=0.005). No significant difference was found in serum periostin levels between the patient and the control groups. There were no significant differences in serum periostin levels in 4 th and 12 th months compared to the ones in the beginning. Conclusion:In this study, there were no significant differences in serum periostin levels of children during the allergen immunotherapy. The association of serum periostin levels with symptom scores for the eye needs to be confirmed in more children with allergic rhinoconjunctivitis.

Amaç: Periostin, havayolu epitelinden ve akciğer fibroblastlarından, IL-4 ve IL-13 aracılığı ile salgılanan ekstrasellüler matriks proteinidir. Eozinofilik havayolu inflamasyonun göstergesi olduğu kabul edilmektedir. Çalışmada, astımlı çocuk hastalarda serum periostin düzeyinin değerlendirilmesi ve soluk havasında nitrik oksit (FeNO) düzeyleri ile korelasyonunun belirlenmesi amaçlanmıştır. Gereç ve Yöntem: Çalışmaya 7-17 yaş arası, 60 intermittan ve hafif persistan astımlı (29 allerjik, 31 allerjik olmayan) ve 30 sağlıklı kontrol, toplam 90 çocuk (45 kız, 45 erkek) dahil edildi. Hastaların demografik verileri, eozinofil yüzdesi, solunum fonksiyon testi, deri prik testi ve spesifik IgE düzeyleri kaydedildi. FeNO ve serum periostin düzeyi ölçüldü. Bulgular: Çalışmaya alınan tüm bireylerde serum periostin değerlerinin yaşla anlamlı korelasyonu olduğu ve yaşla birlikte azaldığı görüldü (6-12 yaş grubunda 59.08±12.79 ng/dl, 13-18 yaş grubunda 46.18±11.64 ng/dl, p<0.001). Serum periostin düzeyi allerjik astımlı hastalarda 52.10±13.93 ng/dl, allerjik olmayanlar da 54.61±13.05 ng/dl olup anlamlı fark saptanmadı. FeNO değerleri hasta ve sağlıklı kontrol grubu ile karşılaştırıldığında farklı değildi (15.5 ppb ve 14.0 ppb, p=0.486). Hasta grubunda sadece allerjik hastaların FeNO ve periostin değerleri arasındaki korelasyon değerlendirildiğinde istatistiksel olarak anlamlılık saptanmadı (r=0.327, p=0.077). Ayrıca, serum periostin düzeyi sadece polen duyarlılığı olan grupla karşılaştırıldığında polisensitize olan astımlı ABSTRACT Objective: Periostin is an extracellular matrix protein secreted by airway epithelium and pulmonary fibroblasts. Periostin was shown to play a role in eosinophilic airway inflammation. This study evaluated the serum periostin levels and exhaled nitric oxide (FeNO) in children with asthma. Materials and Methods: A total of 60 children with intermittent and mild persistent asthma (29 of them were allergic, and 31 of them were nonallergic) and a control group comprising 30 healthy children, ages between 7 and 17 years, were included in the study. Demographic and clinical data of the patients were recorded. The levels of FeNO and serum periostin were measured. Results: The serum periostin level was significantly correlated with age (59.08±12.79 ng/dL in 6-12 years and 46.18 ± 11.64 ng/dL in 13-18 years, p<0.001). No statistically significant difference was detected between the children with allergic and nonallergic asthma. The FeNO values were not different in the patient and the control groups. When the correlation between NO and periostin values of the only allergic patients was considered, no statistically significant difference was found (r = 0.327, p=0.077). Also, the serum periostin levels were higher in polysensitized children compared with only pollen sensitivity, but the "p" value was not at the significance level (58.2±15.1 and 44.65±8.3, p=0.065).