Deferasirox in children with transfusion-dependent thalassemia or sickle cell anemia: A large cohort real-life experience from Turkey (REACH-THEM).

OBJECTIVES: To evaluate the long-term efficacy and safety of deferasirox therapy in a large observational cohort of children with transfusion-dependent thalassemia (TDT) and sickle cell anemia (SCA) in Turkey. METHODS: This was a multicenter, prospective cohort study including TDT and SCA patients aged 2-18 years with iron overload (≥100 mL/kg of pRBC or a serum ferritin [SF] level >1000 µg/L) receiving deferasirox. Patients were followed for up to 3 years according to standard practice. RESULTS: A total of 439 patients were evaluated (415 [94.5%] TDT, 143 [32.6%] between 2 and 6 years). Serum ferritin levels consistently and significantly decreased across 3 years of deferasirox therapy from a median of 1775.5 to 1250.5 µg/L (P < 0.001). Serum ferritin decreases were noted in TDT (1804.9 to 1241 µg/L), SCA (1655.5 to 1260 µg/L), and across age groups of 2-6 years (1971.5 to 1499 µg/L), 7-12 years (1688.5 to 1159.8 µg/L), and 13-18 years (1496.5 to 1107 µg/L). Serum ferritin decreases were also noted for all deferasirox dose groups but only significant in patients with doses ≥30 mg/kg/d (n = 120, -579.6 median reduction, P < 0.001). Only 9 (2%) patients had adverse events suspected to be related to deferasirox. Serum creatinine slightly increased but remained within the normal range. CONCLUSIONS: Deferasirox has long-term efficacy and safety in children with TDT and SCA, although higher doses (≥30 mg/kg/d) may be required to achieve iron balance.

Pitfalls in the diagnosis of immune thrombocytopenic purpura in children: 4 case reports.

Acute idiopathic thrombocytopenic purpura is the most common cause of thrombocytopenia in childhood, and diagnosis of idiopathic thrombocytopenic purpura is made clinically based on the exclusion of other causes of thrombocytopenia. Patients with diverse causes of thrombocytopenia are sometimes erroneously diagnosed as having idiopathic thrombocytopenic purpura. However, for the prevention of misdiagnoses, careful inspection of peripheral blood smear is of utmost importance. This report presents 4 cases presumed as acute idiopathic thrombocytopenic purpura that were finally identified as pseudothrombocytopenia, inherited macrothrombocytopenia (MHY9 disorders) possibly Epstein syndrome, Bernard-Soulier syndrome, and drug-induced thrombocytopenia. They draw attention to the importance of platelet morphology to exclude inherited macrothrombocytopenia and history to exclude drug-induced thrombocytopenia. Better diagnostic approaches would be possible by the awareness of these relatively rare causes of isolated thrombocytopenia.

The comparison of single-dose ceftriaxone, five-day azithromycin, and ten-day amoxicillin/clavulanate for the treatment of children with acute otitis media.

The aim of the study was to evaluate the efficacy of short-course antimicrobial therapies [single intramuscular dose of ceftriaxone (50 mg/kg, not exceeding 1 g), 5 days of azithromycin (10 mg/kg on day 1, then 5 mg/kg daily on days 2-5) and the traditional 10-day course of amoxicillin/clavulanate (90/6.4 mg/kg/day in 2 doses)] in children with acute otitis media (AOM). The study was conducted as a prospective, comparative, open randomized trial between February 2001 and April 2003, and 104 children were enrolled, with a mean age of 3.8 (2.3) years. The clinical and otoscopic assessments of the children were made on days 0, 3, 11 and 30 after admission, and tympanometry was performed on day 30. The patients were diagnosed and followed with a scoring system. Clinical success was achieved in 29/34 patients (85.3%) in the ceftriaxone group, 27/31 patients (87.1%) in the azithromycin group and 34/39 children (87.2%) in the amoxicillin/clavulanate group. The rate of persistence of middle-ear fluid did not differ between the three groups (p>0.05). During the one-month period, no recurrent case was observed. The most common drug-related adverse effects were associated with the gastrointestinal system. In conclusion, for the treatment of children with AOM, the clinical success of single-dose intramuscular ceftriaxone and of five-day azithromycin treatments was comparable to that of the traditional 10-day therapy with high-dose amoxicillin/clavulanate.

99mTc-HMPAO brain perfusion single-photon emission computed tomography in children with Down syndrome: relationship to epilepsy, thyroid functions, and congenital heart disease.

In recent years, it has been possible for patients with Down syndrome to live longer with advanced medical treatment and social support. As a result, the problems of these patients, such as thyroid diseases, leukemia, and Alzheimer disease, would be encountered more frequently. In this study, we aimed to perform the brain perfusion of children with Down syndrome by technetium 99m hexamethylpropylene amine oxime (99mTc-HMPAO) single-photon emission computed tomography (SPECT) and to determine the relationship between brain perfusion and epilepsy, thyroid function tests, congenital heart disease, and level of mental and motor development. Thirty patients with Down syndrome, aged between 1 and 15 years, were included in our study. Demographic data, the existence of epilepsy and congenital heart defects, the level of mental and motor development, serum levels of thyroid hormones, and autoantibodies were determined. All patients underwent computed tomography (CT) and/or magnetic resonance imaging (MRI). Cerebral SPECT was performed in all cases to evaluate the brain perfusion pattern. According to the visual evaluation of cerebral SPECT results, hypoperfusion was detected in 11 cases (37%). Patients with cerebral hypoperfusion (group 1) and patients with normal cerebral perfusion (group 2) were compared. There was no difference between group 1 and group 2 in terms of demographic data, congenital heart defects, IQ levels, thyroid hormones, and autoantibodies, but the incidence of epilepsy was significantly higher in group 1 (P<.001). When motor and mental development levels were compared, it was found that cases in group 1 were significantly more retarded in personal-social and fine motor skills (P<.05). The present study showed that cerebral hypoperfusion in children with Down syndrome is mostly related to epilepsy and the other coexisting conditions, congenital heart disease and hypothyroidism. Patients with cerebral hypoperfusion also have more retarded developmental levels, especially in personal-social and fine motor skills.

Factor V Leiden mutation, deficiency of antithrombin III and elevation of factor VIII in a child with ischemic stroke: a case report.

A 4-year-old boy was admitted with left hemiplegia. Thrombophilia marker examination resulted with factor V Leiden mutation heterozygosity, a deficiency of antithrombin III and a high level of factor VIII. Cranial computed tomography scan revealed an ischemic infarct in the region of right anterior cerebral artery. In the literature, combinations of multiple thrombophilia risk factors that trigger cerebral ischemic stroke in children have been emphasized. To our knowledge, this is the first child with these combinations of thrombophilia risk factors and ischemic stroke to be reported in the literature.

Factor V Leiden mutation and other thrombophilia markers in childhood ischemic stroke.

The aim of this study was to evaluate the association between ischemic childhood stroke and thrombophilia. The prevalence of thrombophilia risk factors in 30 unrelated children with ischemic stroke were compared with 33 age-matched control subjects. Patients and control group were tested for the presence of activated protein C (APC) resistance, antiphospholipid antibodies (APLA), increased factor VIII levels, and for the deficiency of protein C (PC), protein S (PS), and antithrombin. When APCR was detected in patients or in controls, factor V Leiden (FVL) mutation was also tested. Seventeen of 30 patients (56.6%) had at least one thrombophilia marker compared with only 5 of 33 control subjects (15.1%). Three children with ischemic stroke (10%) were affected with a combination of two or more thrombophilia markers whereas none of the children in the control group had a combination of risk factors. Seven of 30 children with ischemic stroke (23.3%) and one of 33 control subjects (3.03%) had APC resistance and in all of them FVL mutation were found. The prevalence of FVL mutation was higher among pediatric stroke patients than among control subjects (p < 0.05). None of the patients but one child from the control group (3.03%) had PS deficiency. Antithrombin and PC deficiencies and the presence of APLA and increased factor VIII levels were more frequent in the pediatric stroke patients than in controls but the difference was not statistically significant (p > 0.05). These data confirm that stroke in children is commonly associated with a combination of multiple risk factors and especially the prevalence of FVL mutation is increased in children with ischemic stroke compared with control subjects.

Ceftriaxone-associated biliary pseudolithiasis in children.

PURPOSE: Ceftriaxone is known to induce reversible precipitations, known as pseudolithiasis, in the gallbladder and urinary tract. The aim of this study was to investigate the incidence and predisposing factors that contribute to this side effect. METHODS: A prospective study was conducted in 156 children admitted for the treatment of various infections with different daily ceftriaxone doses (50 mg/kg, 75 mg/kg, and 100 mg/kg). Sonographic examinations of the gallbladder and urinary tract were performed before treatment on the third and seventh day of therapy, and at the first and second month after the end of treatment. Patients with positive findings were followed with weekly sonographic examinations until the abnormality resolved. RESULTS: Abnormal gallbladder sonograms were demonstrated in 27 children (17%); 16 of them (10%) had gallbladder lithiasis, 11 had gallbladder sludge (7%) (n = 4 on the third day, n = 23 on the seventh day), and 1 developed urolithiasis (0.6%). Five children (19%) were symptomatic. The abnormalities resolved after a mean of 16 days (range 10-30 days). Patients with pseudolithiasis were older and treated with higher drug doses than those with normal sonographic findings (P < 0.01 and P < 0.05, respectively). CONCLUSIONS: Biliary pseudolithiasis (and infrequently nephrolithiasis) usually occurs in children receiving high doses of ceftriaxone. It is generally asymptomatic. When this reversible complication becomes symptomatic, unnecessary cholecystectomy should be avoided.

The prevalence of folic acid deficiency among adolescent girls living in Edirne, Turkey.

PURPOSE: A high incidence of iron-deficiency is a common observation among adolescent girls, whereas only limited data are available regarding the folic acid status of this group. This study was designed to determine the prevalence of biochemical folic acid deficiency in a group of Turkish adolescent girls. METHODS: We surveyed the serum folic acid, complete blood count, and dietary folic acid intake of Turkish adolescent girls after using three-day self-reported food intakes in urban and rural areas of Edirne, Turkey. RESULTS: A sample population was composed of 704 adolescent girls; their serum folic acid levels were found to be adequate for 37.6% (> or = 6 ng/mL), marginal for 46% (3 to 5.9 ng/mL), and at deficient levels for 16.3% (< 3 ng/mL). Folic acid deficiencies were found in 20.1% (36 of 179) and 14.7 % (61 of 416) of adolescent girls from rural and urban areas, respectively. Self-reported three-day folic acid intakes were correlated with the corresponding blood values for this nutrient. In the logistic regression analysis, three factors emerged as significant independent predictors of folic acid deficiency: low income (odds ratio [OR]: 2.4, 95% confidence interval [CI]: 1.3-4.2, p < .001), low vitamin C (OR: 1.9, 95% CI: 1.1-3.5, p < .05), and folic acid intake (OR: 4.8, 95% CI: 2.8-8.1, p < .001). CONCLUSION: Data from the present study may indicate that serum folic acid is low in a group of Turkish adolescent girls. These low values appear to be associated with low income, and low dietary intakes of folic acid and vitamin C.

Risk factors of status epilepticus in children.

BACKGROUND: Although there is abundant literature about the morbidity and mortality rates of status epilepticus (SE), little is known about the risk factors of this medical emergency. The aim of the present study is to assess the risk factors of SE in children. METHODS: The authors reviewed the medical records of 83 patients admitted to the Pediatric Neurology Unit of Trakya University Hospital, Edirne, Turkey from January 1994 to December 2001 with the diagnosis of SE. Eighty-three patients were compared with 166 controls who were admitted to the same unit due to non-status epilepticus (non-SE) seizure. RESULTS: The univariate analysis demonstrated that SE episodes were significantly associated with a history of birth asphyxia, neonatal seizure, discontinuation of antiepileptic medication, epilepsy, partial seizure evolving to secondary generalized seizures, myoclonic seizure, generalized abnormalities in the neurological examination, neuromotor retardation, generalized background abnormalities on electroencephalogram (EEG), generalized abnormalities on neuroimaging and polypharmacy than non-SE episodes. Logistic regression was used to test the independence of these parameters as predictors of SE risk. Four parameters emerged as significant independent predictors of SE in children in multiple logistic regression: polypharmacy (Odds ratio (OR) 5.17, P = 0.0004), discontinuation of antiepileptic medication (OR 4.04, P = 0.0095), neuromotor retardation (OR 4.03, P = 0.0016) and generalized background abnormalities on EEG (OR 2.48, P = 0.0419). CONCLUSION: Polypharmacy, discontinuation of antiepileptic medication, neuromotor retardation and generalized background abnormalities on EEG are indicators in children of a higher risk of SE.