A newborn with diabetic ketoacidosis and thalassemia major: A rare case

Diabetic ketoacidosis is a systemic situation caused byabsolute insulin deficiency and characterized by hyperglycemia,ketonemia, acidemia, glycosuria and ketonuria.Thalassemia Major is a very serious hereditary blooddisorder due to low levels or absence of “beta globulin”chain, characterized by requiring a blood transfusion from3-4. month of life due to the relatively short life of red cells.We, herein presented a rare case of 20 day-old newbornwith anemia, hyperglycemia, vomiting, acidosis being diagnosedas thalassemia major that required blood transfusionin the early period of life and diabetic ketoacidosiswithout ketonuria who born from 24 year old father carrierof thalassemia and 23-year-old mother with carrier of thalassemiaand gestational diabetes.The case was presented in order to emphasize that diabeticketoacidosis can occur in newborns without ketonuriaand thalassemia major may cause anemia in the earlyperiod of life due to hyperglycemia and acidosis

Effects of Storage Temperature and Time on Stability of Serum Tacrolimus and Cyclosporine A Levels in Whole Blood by LC-MS/MS

Tacrolimus and cyclosporine A are immunosuppressant drugs with narrow therapeutic windows. The aim of this study was to investigate the stability of tacrolimus and cyclosporin A levels in whole blood samples under different storage conditions. Whole blood samples were obtained from 15 patients receiving tacrolimus and 15 patients receiving cyclosporine A. Samples were immediately analyzed and then stored at different conditions (room temperature (24°C−26°C) for 24 hours, +4°C for 24 and 48 hours, and −20°C for one month) and then analyzed again. For tacrolimus, there was a significant difference between samples analyzed immediately and those kept 24 hours at room temperature (P=0.005) (percent change 32.89%). However, there were no significant differences between the other groups. For cyclosporine A, there was a significant difference between samples analyzed immediately and those kept 24 hours (P=0.003) (percent change 19.47%) and 48 hours (P=0.002) (percent change 15.38%) at +4°C and those kept 24 hours at room temperature (P=0.011) (percent change 9.71%). Samples of tacrolimus should be analyzed immediately or stored at either +4°C or −20°C, while samples of cyclosporine A should be analyzed immediately or stored at −20°C

Common MEFV gene mutations in children with FMF in Diyarbakır, Turkey

Familial Mediterranean Fever (FMF) is an autosomal recessive disease that clinically characterized by periodic abdominal pain, fever and arthralgia. Wide variety of mutations have been described in MEFV gene which is known to be responsible from FMF. In present study, 12 MEFV mutations [E148Q, P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H] have been screened. DNA samples were obtained from a total of 332 children, who were clinically suspected as FMF. Mutation analyses of MEFV gene were carried out with reverse hybridization method. In 113 children (mean age 11.5 years), mutations have been detected. In 60 children E148Q (4 homozygous), in 19 M694V (4 homozygous), in 16 P369S (none), and in 13 children V726A (none homozygous) mutations were detected. Among Familial Mediterranean Fever -suspected 332 children 104 fulfilled diagnostic criteria for FMF and detected MEFV gene mutations with decreasing frequency were; E148Q (30.8%), M694V (18.3%), P369S (10.6%), V726A (8.6%), A744S (2.9%), R761H (2.9%), M694I (1.9%), K695R (1.9%) and I692del (1.0%), respectively. No mutation was detected in 15 (14.4%) FMF children while, two different MEFV mutations were detected together in 13 (12.5%) patients and these patients were accepted as a compound heterozygous. In conclusion, in our patients E148Q mutation was found higher than M694V mutation that has been detected commonly in patients with FMF. The difference may result from demographic features or used methods

Hyper-immunoglobulin E syndrome in a neonate: A case report

Hyper-immunoglobulin E syndrome (Job syndrome) is a rare primary immunodeficiency with variable presentation,characterized by recurrent infections, facial dimorphism, eczema, scoliosis, joint hyper-extensibility, pathologic fractures,very high IgE (>2000 IU/mL), severe eosinophilia and variable impaired T cell function. We present a case of HyperimmunoglobulinE syndrome in neonate with review of the literature. J Microbiol Infect Dis 2013; 3(3): 143-145Key words: Hyper-immunoglobulin E syndrome, recurrent infections, neonat

ASTIMLI ÇOCUKLARIN VE ANNELERİNİN DEPRESYON VE KAYGI DÜZEYLERİNİN DEĞERLENDİRİLMESİ

Giriş ve Amaç: Astım, sık hastane yatışlarından, uzun süreli ilaç tedavisi ve kısıtlanmış sosyal hayattan dolayı psikolojik problemlere sebep olan bir hastalıktır. Bu çalışmada astımlı çocuklarda ve annelerinde depresyon ve kaygı düzeylerinin saptanması amaçlandı.Materyal ve Metot: Çalışmaya elli astımlı çocuk ve annesi, elli diyabetli, elli akut üst solunum yolu enfeksiyonu geçiren çocuk annesi, elli sağlıklı çocuk ve annesi alındı. Annelere Hastane Anksiyete Depresyon Ölçeği (HADÖ-Hospital Anxiety Depression Measure) uygulanırken çocuklara Çocuklar için Depresyon Ölçeği (ÇDÖ) ve Sürekli Kaygı envantörü (ÇSKE) uygulanmıştır.Bulgular: Depresyon puanı 7’nin üstünde ve anksiyete puanı 10’un üstünde olan hasta sayısı astımlı ve diyabetli çocukların annelerinde, üst solunum yolu enfeksiyonu geçiren ve sağlıklı çocukların annelerinden daha yüksek saptandı. Astımlı çocukların depresyon ve kaygı düzeyleri de sağlıklı çocukların depresyon ve kaygı düzeylerinden yüksek olduğu saptandı (p=0,001,p=0,001).Sonuç: Astımlı çocuk ve annelerinde depresyon ve anksiyete düzeyleri daha yüksek olduğu ve bu yönde destek verilmesi gerektiği saptandı

Large congenital cystic asdenomatous malformation of the lung in a newborn

Congenital cystic adenomatous malformation (CCAM) oflung is a rare form of congenital hamartomatous lesionsof the lung consisting of cysts filled with air. The generalclinic presentation of CCAM is dyspnea in newborns.CCAM may mimic congenital pneumonia or respiratorydistress syndrome. After the delivery, the newborn malewho had low Apgar score and severe respiratory distresswas intubated and admitted to neonatal intensive careunit. Patient was ventilated for 50 days and weaned fromthe mechanical ventilator at 50th day. Type II CCAM of thelung was diagnosed according to the chest radiographsand computed tomography scan signs. Although the surgeonssuggested lobectomy considering the patient’s notcompletely asymptomatic, family did not accept this operationdue to the risk of death. The patient was dischargedfrom the hospital until the next control.Key word: Congenital cystic adenomatous malformation of lunch, newborn, conservative treatmen