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

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

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

Results of exchange transfusions in newborns without blood group incompatibility

Objective: Hyperbilirubinemia is a common problem ofneonatal period that has high morbidity and mortality.Blood exchange is the most effective and urgent treatmentmodality for very high bilirubin levels that can lead toneurotoxicity called as kernicterus. The aim of this studywas to compare 90 minutes exchange transfusion withthat of 120 minutes.Methods: This study was performed at Dicle UniversityMedical Faculty, Neonatal Unit between July 2007 andJune 2008. A total of 36 term newborn (38 - 42 gestationalweek) without blood group incompatibility and withtotal serum bilirubin levels over 25 mg/dl were included.Newborns were randomly assigned in two groups eachof them comprise 18 babies as Group 1 underwent 90minute-exchange and Group 2 120 minute. Effectivenessand complications of exchange transfusion were recorded.Newborns with Rh, ABO or subgroup incompatibilities,prematurity or small for gestational age, septicemia,hypothyroidism, G6PD enzyme deficiency, intrauterineinfections, diabetic mother’s baby, hemolytic disease ormetabolic diseases were excluded.Results: There were no significant differences in thebody weight, gestational age, postnatal age, age of mother,total bilirubin and albumin levels, the number of bloodexchange, hospital stay days and complications betweentwo groups (p>0.05). However, mean phototherapy durationwas significantly shorter in 120 minutes transfusiongroup compared with 90 minutes group (p<0.001).Conclusion: Our results indicated that 90 minutes wassufficient for an effective exchange transfusion in severehyperbilirubinemic newborn infants. However longer exchangetransfusion durations may shorten the duration ofphototherapy.Key words: Indirect hyperbilirubinemia, exchange transfusion,newborns, outcom

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

The relationship between blood lactate levels and mortality in pediatric intensive care patients

Objective: To determine relationship between blood lactatelevel and mortality rate in children admitted to theintensive care unit.Methods: 298 critically ill patients aged between 28 daysand 16 years admitted to Dicle University Hospital, thethird step Pediatric Intensive Care Unit in between January2007 and December 2007 were included. Age, sex,diagnosis, Glasgow coma score points, the first measuredblood lactate levels (lactate 1) and the arithmeticaverage of all measured blood lactate levels during treatment(lactate 2) of cases were evaluated. Patients weredivided into group A (lactate < 20 mg/dl) and B (lactate ≥20 mg/dl). According to the results, patients were classifiedas survivors and non-survivors. Both lactate 1 andlactate 2 were compared with mortality rates.Results: In this study, a total of 298 patients were evaluated,158 of them were nonsurvivors and 140 were survivors.A significant correlation was found between lactatelevels and mortality rates. Lactate levels were higher innon-survivor cases (p<0.001). In group B, lactate 1 had68% (106/156) sensitivity and 75% (106/142) specificityfor determining the risk of mortality. Also in group B, lactate2 had 85% (134/158) sensitivity and 79% (134/169)specificity for determining the risk of mortality.Conclusion: There is a strong association between highblood lactate levels and mortality rates in the critically illpatients in pediatric intensive care unit. In these patientsblood lactate levels can be used for follow-up and evaluationof the effectiveness of treatment and determiningmortality. J Clin Exp Invest 2013; 4 (3): 269-273Key words: Pediatric intensive care unit, critically ill children,blood lactate levels, mortalit

Oxidative Stress In Marasmic Children: Relationships With Leptin

Aim : We aimed to investigate the levels and relationships of an-tioxidants, lipid peroxidation and leptin altogether in marasmic malnutrition. Method : Thirty marasmic children (age 14.4±10.3 months) and 28 con-trol subjects were included. Erythrocyte superoxide dismutase (SOD) and catalase (CAT) activities, glutathione (GSH) level, and serum malondialdehyde (MDA) and leptin levels were measured. Result: Malnourished children had significantly lower erythro-cyte SOD activity (1583±417 vs. 3403±1901 U/gHb, respectively, P< 0.001), CAT activity (1139±92 vs. 1663±302 k/gHb, p< 0.001), GSH level (25.9±5.4 vs. 48.1±17.0 μmol/gHb, p< 0.001) and leptin levels (3.6±1.1 vs. 11.8±4.5 ng/mL, respectively, p< 0.001), compared with control subjects. However mean MDA concentration of marasmic chil-dren (11.1±2.5 nmol/mL) was found to be significantly higher than that of the control subjects (6.6±3.9 nmol/mL) (p< 0.001). Significant negative correlations were detected between CAT and MDA (r=-0.476, P=0.009), between SOD and MDA (r=-0.534, p=0.004), and GSH and MDA (r=-0.439, p=0.015) in marasmic children. No significant correla-tion was found between leptin and oxidation markers (p>0.05). Conclusion: Marasmic children had increased lipid peroxidation and decreased antioxidant enzyme activities and leptin. Lack of associa-tions between leptin, anthropometric measurements and oxidative stress may be due to the excessive loss of adipose tissue and related very low levels of leptin in marasmic children

Cystic fibrosis of pancreas and nephrotic syndrome: a rare association

Cystic fibrosis (CF) is a genetic disease with autosomal recessive inheritance and is common in Caucasian people. The prevalence of this disease is between 1/2,000 and 1/3,500 live births, and the incidence varies between populations. Although the CF transmembrane conductance regulator gene is expressed in the kidneys, renal involvement is rare. With advances in the treatment of CF, life expectancy has increased, and some previously unobserved disease associations are now seen in patients with CF. It is important to follow patients with CF for possible abnormalities that may accompany CF. In this paper, we present two rare cases of CF accompanied by nephrotic syndrome