Orhan Gürsel

Premature atherosclerosis in children with β-thalassemia major.

Objectives: In this study, we aimed to investigate the relationship between chronic hemolysis and increased body iron burden with development of premature atherosclerosis by carotid intima-media thickness (IMT), ferritin, serum lipid profile, homocysteine, nitrate/nitrite, and chitotriosidase enzyme activity in children with &bgr;-thalassemia major. Materials and Methods: A total of 31 children with a diagnosis of &bgr;-thalassemia major between the ages of 4 to 16 years constituted the study group. Control group was consisted of 36 age-matched healthy children. Complete blood count, serum glucose, lipid profile, ferritin, homocysteine, calcium, chitotriosidase, and nitrate/nitrite levels were measured and electrocardiographic and echocardiographic investigation and carotid IMT measurement were performed. Results: In study group serum total cholesterol, low-density lipoprotein cholesterol and high-density lipoprotein cholesterol levels were found to be significantly reduced, and very–low-density lipoprotein cholesterol levels were found to be significantly elevated. Plasma nitrate/nitrite levels were significantly reduced; chitotroisidase enzyme activity was significantly increased and carotid IMT was significantly increased in study group. Nitrate/nitrite was found to be the only variable that was statistically significantly related to carotid IMT. Conclusions: Subclinical atherosclerosis in children with &bgr;-thalassemia major begins early in life, and these children are at risk for development of premature atherosclerosis.

Vincristine-Induced Unilateral Ptosis in a Child

Vincristine is a vinca alkaloid used in combination with other agents in the treatment of solid tumors, lymphoma, and leukemia, as well as for idiopathic thrombocytopenic purpura and autoimmune hemolytic anemia. A dose-limiting complication of vinca alkaloids is neurotoxicity. Vincristine is the oldest and also the most neurotoxic agent in this group. Described here is the case of a 4-year-old girl with unilateral palpebral ptosis. She has been diagnosed with precursor B-cell acute lymphoblastic leukemia. Ptosis was noted on the 45th day of therapy, and the last vincristine was administered on the 28th day of protocol 1. Vincristine-induced unilateral palpebral ptosis is a novel finding. Experience with this case suggests conservative treatment, with periodic examination, especially if ptosis is mild.

Mycoplasma pneumoniae infection associated with pancytopenia: a case report.

Immune hemolytic anemia is a rare condition in childhood. Cold agglutinins have been implicated in the etiology of the hemolysis and frequently observed during Mycoplasma pneumoniae infections. We present here a case of cold agglutinin-related hemolytic anemia, thrombocytopenia, and leukopenia secondary to M. pneumoniae associated pneumonia. It is suggested that even though very rare, M. pneumoniae infection should be considered as the underlying disease in a patient presenting with pancytopenia.

Effects of Smoking during Pregnancy on DNA Damage and ROS Level Consequences in Maternal and Newborns’ Blood

Some of the genotoxic/carcinogenic substances or metabolites in cigarette smoke are capable of passing through the placenta and harming a newborn’s health. Smoking is also known as a factor in the formation of oxidative damage and the main mechanism involved in the carcinogenic process. Predetermining this genotoxic risk can be successfully achieved by measuring certain parameters of oxidative stress. The comet assay is considered an important biomarker for the evaluation of genotoxic substances and is effective for detecting DNA damage caused by smoking. This study examined third trimester bloods and the cord blood of 28 actively smoking and 22 non-smoking mothers in terms of DNA damage and oxidative stress parameters. Cu/Zn superoxide dismutase (CuZn-SOD), malondialdehyde (MDA), catalase (CAT), plasma nitrite/nitrates (NO2 -/NO3 -), selenium-dependent glutathione peroxidase (Se-GPx), Cu, and Zn levels were measured as indicators of oxidative damage. There were no significant increases in DNA damage of the actively smoking pregnant group in comparison with the non-smoking pregnant group, either in the third trimester or cord blood. Oxidative stress parameters of smoker and non-smoker groups were statistically different for MDA (p<0.05), CuZn-SOD (p<0.01), Se-GPx (p<0.05) values while the difference was not significant for NO2 -/NO3 -, CAT, Zn, and Cu values. The same values were also investigated in cord blood, and only NO2/NO3 -(p<0.01), Se-GPx (p<0.01 and CAT (p<0.001) values were found statistically different. Smoking mothers may have been exposed to more oxidative stress than non-smoking mothers.

Molecular analysis and clinical findings of Griscelli syndrome patients.

Griscelli syndrome (GS) is a rare autosomal recessive disorder associated with skin or hair hypopigmentation, hepatosplenomegaly, pancytopenia, and immunologic and central nervous system abnormalities. GS type II is caused by RAB27A mutations. We present RAB27A mutation analysis of 6 cases diagnosed as GS type II. Missense mutations (L26P and L130P) in 2 cases, deletion of 5 bases (514delCAAGC) in 2 cases, and 1 base deletion (148delA) in 2 cases were detected. This report has importance in phenotype-genotype correlation of different types of mutations including missense mutations and deletions within the RAB27A gene in GSII syndrome.

Platelet aggregation in children with Helicobacter pylori infection.

This study was performed to investigate the platelet aggregation alterations in platelet-rich plasma (PRP) samples of children with Helicobacter pylori (H pylori) infection. Platelet aggregation induced by adenosine diphosphate (ADP), collagen, ristocetin, or epinephrine was studied with photometric aggregometry in 30 patients before and after eradication therapy and in a control group including 15 children. The pretreatment mean maximum aggregation values and slope were significantly lower (P < .0001) in the study group at 10 μmol/L concentrations of ADP (ADP-like defect). The maximum aggregation values and slope revealed no significant differences (P > 0.05) between the study group after therapy and the control group. We concluded that H pylori infection may cause dysfunction of platelets in children and can be reversed by H pylori eradication therapy. Further studies should be carried out to determine the mechanisms of platelet dysfunction in children with H pylori infection.

Anaphylaxis to gonadorelin acetate in a girl with central precocious puberty.

Abstract Gonadotropin-releasing hormone analogues are generally regarded as safe drugs. Gonadorelin acetate has been widely used for the diagnosis of central precocious puberty, and life-threatening reactions to gonadorelin acetate are extremely rare. Herein, we described – to the best of our knowledge – the first pediatric case in which severe anaphylaxis was encountered after intravenous gonadorelin acetate administration. An 8-year-old girl who was diagnosed with central precocious puberty was receiving triptorelin acetate treatment uneventfully for 6 months. In order to evaluate the efficacy of the treatment, an LH-RH stimulation test with gonadorelin acetate was planned. Within 3 min after intravenous administration of gonadorelin acetate, she lost consciousness and tonic seizures began in her hands and feet. She was immediately treated with epinephrine, diphenhydramine, and fluids. Her vital signs recovered within 30 min. Based on the results, anaphylaxis should be anticipated and the administration of these drugs should be performed in a setting that is equipped to deal with systemic reactions.

A neonatal thrombosis patient treated successfully with recombinant tissue plasminogen activator.

Herein we report an asphyctic preterm neonate with respiratory distress and prothrombotic risk factors that responded positively to rtPA treatment following 2 attacks of acute thrombosis. Conflict of interest:None declared.

Risks and outcomes of invasive fungal infections in pediatric allogeneic hematopoietic stem cell transplant recipients receiving fluconazole prophylaxis: a multicenter cohort study by the Turkish Pediatric Bone Marrow Transplantation Study Group

Invasive fungal infections (IFIs) are a major cause of infection-related morbidity and mortality in patients undergoing allogeneic hematopoietic stem cell transplantation (HSCT). Data from pediatric settings are scarce. To determine the incidence, risk factors and outcomes of IFIs in a 180-day period post-transplantation, 408 pediatric patients who underwent allogeneic HSCT were retrospectively analyzed. The study included only proven and probable IFIs. The cumulative incidences of IFI were 2.7%, 5.0%, and 6.5% at 30, 100, and 180 days post-transplantation, respectively. According to the multivariate analysis, the factors associated with increased IFI risk in the 180-day period post-HSCT were previous HSCT history (hazard ratio [HR], 4.57; 95% confidence interval [CI] 1.42-14.71; P = .011), use of anti-thymocyte globulin (ATG) (HR, 2.94; 95% CI 1.27-6.80; P = .012), grade III-IV acute graft-versus-host-disease (GVHD) (HR, 2.91; 95% CI 1.24-6.80; P = .014) and late or no lymphocyte engraftment (HR, 2.71; 95% CI 1.30-5.62; P = .007). CMV reactivation was marginally associated with an increased risk of IFI development (HR, 1.91; 95% CI 0.97-3.74; P = .063). IFI-related mortality was 1.5%, and case fatality rate was 27.0%.The close monitoring of IFIs in pediatric patients with severe acute GVHD who receive ATG during conditioning is critical to reduce morbidity and mortality after allogeneic HSCT, particularly among those with prior HSCT and no or late lymphocyte engraftment.

Heavy metal levels in patients with ineffective erythropoiesis

OBJECTIVES Iron is taken into enterocytes at the duodenum via apical divalent metal-ion transporter 1 protein. Besides iron, divalent metal-ion transporter 1 also transports other divalent metals. We aimed to investigate blood heavy metal levels in patients with ineffective erythropoiesis. METHODS Blood levels of heavy metals including Pb, Al, Cd, Cr, Co, Cu, and Zn were measured in patients with thalassemia major (TM), thalassemia intermedia (TI), congenital dyserythropoietic anemia (CDA), and age- and sex-matched healthy controls. RESULTS Blood samples were obtained from 68 patients (51 patients with TM, 8 with TI, 9 with CDA), and a control group that included 65 volunteers. Patients with TM were found to have lower Al, Pb, and Zn, and higher Cd levels compared with the control group. The patients treated with deferasirox were further analyzed and Pb and Zn levels were found lower compared with the control group. DISCUSSION Patients with TM had tendency to have elevated levels of plasma cadmium; however, the median level was not at a toxic level. Increased metal-ion transporter 1 activity may cause heavy metal accumulation, but deferasirox chelation may be protective against heavy metals besides iron.