EPISODE OF ACUTE HEMOLYSIS DUE TO UNDIAGNOSED GLUCOSE-6-PHOSPHATE DEHIDROGENASE DEFICIENCY IN AN ADOLESCENT WITH NEWLY DIAGNOSED TYPE 1 DIABETES MELLITUS: CASE REPORT AND REVIEW OF LITERATURE.

Glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency is common in the community. The most important clinical manifestation of G6PD deficiency is acute hemolytic anemia due to oxidative stressors. Diabetes Mellitus (DM) can precipitate hemolysis in patients with G6PD deficiency. Here, we described a 15-year-old male with newly diagnosed type 1 DM (T1DM) and unknown G6PD deficiency who suffered from hemolytic anemia during normalization of blood glucose. On admission, the patient did not have ketoacidosis. After the patient's blood sugars were regulated with insulin therapy, he presented five days later with hemolytic anemia. The cause of hemolytic anemia was G6PD deficiency. The patient had no previous episodes of hemolysis and had no relevant family history. Hypoglycemia did not occur during blood glucose regulation. The return of blood sugar to normal after a long period of hyperglycemia was thought to be the possible cause of hemolysis. In conclusion, G6PD deficiency should be considered when there is an episode of hemolysis in newly diagnosed children and adolescents with T1DM, especially in the absence of ketoacidosis and hypoglycemia.

Determination of self-incompatibility groups of sweet cherry genotypes from Turkey.

Determination of S-allele combinations of sweet cherry genotypes and cultivars has importance for both growers and breeders. We determined S-allele combinations of 40 local Turkish sweet cherry genotypes using a PCR-based method. Ten different S-alleles were detected. Although the most common S-allele was S3, as also found in Western genotypes and cultivars, there were some differences in the frequencies of some S-alleles between Turkish and Western sweet cherry genotypes. According to their S-allele compositions, 30 local Turkish sweet cherry genotypes were assigned to 10 previously identified incompatibility groups. For the remaining genotypes, whose S-allele combinations did not fit to any previous incompatibility groups, three more incompatibility groups, XLII, XLIII and XLIV, were proposed. Results obtained from this study will help both sweet cherry growers and breeders to better manage these local Turkish sweet cherry genotypes in their orchards.

SSR analysis demonstrates that olive production in the southern Marmara region in Turkey uses a single genotype.

The southern Marmara region in Turkey was surveyed to determine the olive cultivars that are used for olive production. Genetic diversity analysis using simple sequence repeat (SSR) markers indicated that the cultivar Gemlik is the major olive cultivar grown in this region, while other olive cultivars are grown only for use as pollinators of Gemlik or for growers' own exotic consumption. Although the quality of Gemlik is widely accepted in Turkey, its tendency toward alternate bearing is a major drawback. Twenty-four genotypes were selected within the cultivar Gemlik because of their tolerance to alternate bearing. These selected genotypes have the same SSR alleles as Gemlik, making them good candidates for developing a Gemlik olive with reduced alternate bearing. About 8% of samples did not share the same SSR alleles with Gemlik, though these genotypes were identified as Gemlik by the growers. Some other standard cultivars that are grown in other regions of Turkey were mistakenly called Gemlik in this region, probably due to the popularity of this cultivar in the southern Marmara region. In conclusion, as indicated by SSR analysis, Gemlik has become the standard cultivar in this region; future research should be focused on techniques to improve the production and quality of table olives and olive oil from this cultivar.

Nonimmune hydrops fetalis and bilateral pulmonary hypoplasia in a newborn infant with nuchal vascular hamartoma.

Nuchal vascular hamartoma was found in a newborn premature infant who presented with nonimmune hydrops fetalis, pulmonary hypoplasia due to bilateral pleural effusion and polyhydramnios in utero. The baby died 26 hours after birth despite maximal respiratory and circulatory support. Postmortem examination revealed a vascular hamartoma localized to the left posterolateral region of the neck. We suggest that nuchal vascular hamartoma may be associated with fetal hydrops, probably due to compromised lymph drainage.

Cardiac functions by myocardial performance index and QT dispersion in survivors of childhood lymphoblastic leukaemia.

AIM: Childhood leukaemia treatment contains multiple chemotherapeutic agents in high doses that can cause severe toxic effects on heart and other vital organs. In this respect patients taking cancer chemotherapy are followed for these adverse effects. Echocardiographic myocardial performance index (MPI) was reported as a new method of combined systolic and diastolic function for both adults and children, calculated as isovolumic relaxation time plus isovolumic contraction time divided by ejection time. In addition, it has been postulated that increased inter-lead differences in QT interval (QT dispersion) may be associated with an increased risk of cardiac death. The aim of this study was to determine the probable immediate and late adverse effects of childhood leukaemia treatment containing moderate dose of anthracyclines on heart by MPI and corrected QT dispersion (QTcD). METHODS: MPI and QTcD in 55 children with leukaemia and 38 healthy controls matched for age and sex were evaluated. RESULTS: There was no statistically significant difference between MPI values of patients and controls (20.7+/-13.1 (1-59.4) and 16.1+/-13.5 (0.3-77.5), P: 0.1, respectively). Also, there was no significant difference in MPI and QTc values between patients taking active treatment and those who completed the therapy and between the patients given a cumulative dose of anthracycline lower and higher than 250 mg/m2. But QTcD values were found to be higher in patients than controls (0.08+/-0.03 and 0.03+/-0.01, P<0.01, respectively). CONCLUSIONS: There was no overt cardiotoxicity in our children with leukaemia treated with protocols of ALL BFM 95 and TRALL 2000 (Modified BFM in Turkey) containing moderate dose of anthracyclines. However, they can cause subclinical cardiotoxicity and further monitoring and evaluation with such sensitive and noninvasive methods over a longer period of time are needed.

Successful desensitization of a case with desferrioxamine hypersensitivity.

Thalassaemia major is a severe chronic hemolytic disease, resulted with iron overload mainly due to regular blood transfusions. Iron overload may lead to serious organ toxicity and even fatal complications, if no iron excretion is achieved by a chelating agent. First introduced in 1976 as s.c. treatment for thalassaemia major, desferrioxamine (DFO) has substantially improved the life expectancy in the disease. While DFO can cause local allergic reactions including redness, itching, pain and lumps, on rare occasion anaphylactic reactions can occur. The mechanism of anaphylaxis like reactions is not well understood. In this case report, we presented a 10 years-old girl with thalassaemia major who had to stop DFO therapy after appearing of systemic allergic reactions with hypotension, tachycardia, pruritus and urticaria against this drug. Serum IgE level was normal, specific IgE and skin prick tests were negative. Intradermal test was resulted with positive reaction to DFO. The patient was hospitalized and desensitization protocol was initiated with rapid s.c. infusions per 15 min. The protocol was stopped at the 17th cycle because of local reaction reappeared. After that, DFO was further diluted and was restarted with lower dosage and longer infusion period. Then, DFO dosage was increased and the dilutions and infusion times were decreased gradually. By this desensitization programme, the patient would continue to use DFO chelation safely for 10 months.

Sinopulmonary aspergillosis in children with hematological malignancy.

Invasive pulmonary aspergillosis is a serious infectious complication in immunocompromised especially neutropenic patients. Despite improvements in early diagnosis and effective treatment, invasive pulmonary aspergillosis is still a devastating opportunistic infection. These infections also interfere with the anticancer treatment. We report our experience in the diagnosis and therapeutic management of sinopulmonary aspergillosis in 4 children with hematologic malignancy. All patients except the first were neutropenic when sinopulmonary aspergillosis was diagnosed. Clinical signs included fever, cough, respiratory distress, swallowing difficulty, headache, facial pain-edema and hard palate necrosis. Radiodiagnostic methods showed bilateral multiple nodular infiltrations, soft tissue densities filling all the paranasal sinuses, and bronchiectasis. Diagnosis of aspergillosis was established by bronchoalveolar lavage in one case, tissue biopsy, positive sputum and positive cytology, respectively, in the other 3 cases. One patient was treated with liposomal amphotericin B and other 3 cases were treated with liposomal amphotericin B + itraconozole. Outcome was favorable in all cases except the one who died due to respiratory failure. Early diagnosis, appropriate treatment and primary disease status are important factors on prognosis of Aspergillus infections in children with hematological malignancy.

Mutational analysis of beta-thalassemia cases from the Aegean region of Turkey using an allele-specific oligonucleotide hybridization technique.

The aim of the present study was to evaluate the point mutations of beta-thalassemia patients from the Aegean region of Turkey by using an allele-specific oligonucleotide hybridization technique. DNA isolated from peripheral blood samples of 75 children with beta-thalassemia major or intermedia was analyzed using a Bio-Rad mD(x)(TM)-Be Tha Gene 1 kit. We determined mutations in 56 (74.6%) patients. The allelic frequency of mutations in 150 chromosomes was as follows: IVS-I-110 (G-A) 44.1%, IVS-I-1 (G-A) 28.2%, IVS-I-6 (T-C) 13.3%, IVS-II-745 (C-G) 9.3%, IVS-II-1 (G-A) 2.7%, Cd 39 (C-T) 2.4%, -87 (C-G) 0% and Cd 6 (-A) 0%. The distribution of the mutation types was consistent with the findings of other research groups.

Autoimmune hemolytic anemia occurring with myelodysplastic syndrome: report of a pediatric case and review of the literature.

In this case report, we present a child who was admitted to hospital with the features of autoimmune hemolytic anemia (AIHA) and was diagnosed with myelodysplastic syndrome (MDS)-related AIHA. A 14-year-old female patient was admitted to our hospital with the chief complaints of palpitation, icterus, and fatigue for 2 months. She was pale and icteric. Diffuse hepatosplenomegaly was palpated. Hematological examination revealed a hemoglobin of 3.4 g/dl, red blood cell count of 2x10(12)/l, white blood cell count of 3x10(9)/l, platelet count of 14x10(9)/l, and reticulocyte count of 1.7%. Blood smear examination revealed significant anisocytosis, poikilocytosis, and tear drop cells. The direct Coomb's test was positive. Bone marrow aspirate showed hypercellularity, micromegakaryocytes, dyserythropoiesis, and dysmyelopoiesis with 2% blasts. The patient was diagnosed with MDS-refractory anemia and AIHA secondary to MDS. Rarely, AIHA can occur secondary to MDS. To our knowledge, this patient is the first pediatric case with MDS and AIHA reported in the literature.

Treatment outcome of adolescents with acute lymphoblastic leukemia.

Despite intensified chemotherapy, adolescents with acute lymphoblastic leukemia (ALL) still have lower rates of survival than younger children. The purpose of our study was to compare the treatment outcome and presenting clinical and laboratory features of adolescent and younger children with newly diagnosed ALL who were treated at our pediatric hematology department. Between April 1991 and February 2000, 42 children up to 18 years of age who were newly diagnosed with ALL and treated adequately with modified ALL Berlin-Frankfurt-Münster (BFM) 90 or 95 protocols were included in this study. The patients were examined in two groups according to their ages: the first group consisted of children who were <14 years old and the second group consisted of adolescents who were >14 years old. The median age of 42 patients was 6.5 years (range: 1-16.5 years); 26% of the patients were adolescents. The results of this study demonstrated that after a median observation time of 6 years the overall survival (OS) and event-free survival (EFS) of patients who were <14 and >14 years of age were 75% vs 49% and 70% vs 40%, respectively. When adolescent and younger patients were compared to each other according to gender, WBC count at administration, French-American-British (FAB) classification, immunophenotypes, risk groups, early deaths, and relapse rates, there were no statistically significant differences. Comparative data from other studies and data from this study indicate that adolescents with ALL still have shorter OS and EFS than younger children and a steady improvement in treatment outcome for adolescents with ALL over time suggests that more intensive therapy favorably influences prognosis.