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Standard of care (SOC) anticoagulation for thromboembolism (TE) prevention in children with cardiac disease includes low molecular weight heparins or vitamin K antagonists. Limited data exists for alternate use of direct oral anticoagulants in children.The investigators aimed to obtain safety and efficacy data for edoxaban in children.We performed a phase 3, multinational, prospective, randomized, open-label, blinded-endpoint trial in patients 18 years of age with cardiac disease (ENNOBLE-ATE [Edoxaban for Prevention of Blood Vessels Being Blocked by Clots (Thrombotic Events) in Children at Risk Because of Cardiac Disease] trial). Patients were randomized 2:1 to age- and weight-based oral edoxaban once daily vs SOC for 3 months (main study period), stratified by cardiac diagnosis. Both groups could continue in an open-label edoxaban extension arm through 1 year. The primary endpoint was adjudicated clinically relevant bleeding (CRB). The main secondary endpoint was symptomatic TE or asymptomatic intracardiac thrombosis.The modified intention-to-treat cohort included 167 children. One patient per group experienced a nonmajor CRB in the main period. Treatment-emergent adverse events occurred in 46.8% (51 of 109) with edoxaban and 41.4% (24 of 58) with SOC. One SOC patient experienced 2 TE events (DVT with PE). Among 147 children in the extension, 1 CRB event (0.7%) and 4 TEs occurred (2.8%; 2 strokes and 2 of 33 Kawasaki disease patients with coronary artery thromboses and/or myocardial infarctions).Edoxaban is a potential alternative mode of thromboprophylaxis in children with cardiac disease showing low rates of CRB and TEs with advantages of once daily dosing and infrequent monitoring requirement. (ENNOBLE-ATE [Edoxaban for Prevention of Blood Vessels Being Blocked by Clots] (Thrombotic Events) in Children at Risk Because of Cardiac Disease trial; NCT03395639).

EgeUn###, Allergic bronchopulmonary aspergillosis is an immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus. This disorder is most commonly seen in patients with poorly controlled asthma and cystic fibrosis. It is rarely reported in chronic granulomatous disease patients; however, there are no cases reported with hematopoietic stem cell transplantation in the English literature. Herein, we report a patient with chronic granulomatous disease who had hematopoietic stem cell transplantation and subsequently developed allergic bronchopulmonary aspergillosis.

Objectives: Ophthalmologic disease in patients with acute leukemia occurs due to primary leukemic infiltration (involvement), or secondary to the disease and its treatment. In recent years the life expectancy of acute leukemia patients has increased with the advent of modern therapies. The present study aimed to determine the incidence of ocular manifestations in children with acute leukemia. Materials and Methods: The study included 120 patients diagnosed with acute leukemia at Baskent University Hospital, Pediatric Hematology Department between 1995 and 2010. All the patients were examined by an ophthalmologist via direct and indirect ophthalmoscopy. Results: Among the patients, 83 (69.2%) were diagnosed with acute lymphoblastic leukemia, 35 (29.1%) with acute myeloblastic leukemia, and 2 (1.7%) with mixed-lineage leukemia. In all, 58 ophthalmic manifestations were noted in 41 patients (34.2%). In our patients, 12 ophthalmologic involvements were present at admission and 46 ocular findings occurred during follow-up. The incidence of these manifestations increased with age. Conclusion: Ophthalmologic manifestations were not correlated with gender, hematological parameters at disease onset, type of leukemia, or the frequency of relapse and survival. To more clearly determine the effect of ophthalmologic manifestations on the prognosis of leukemia, larger scale and multi-center studies are needed.

The presence of lupus anticoagulants (LAs) is an important cause of activated partial thromboplastin time (aPTT) prolongation found in children after an infection or during screening tests before surgical intervention. The authors retrospectively reviewed the charts of 68 patients who have been consulted from surgery departments with prolonged aPTT. These patients were reevaluated with aPTT analysis after 1 week. Thirteen patients had normal aPTTs. Therefore, 55 patients remained with prolonged aPTTs. LA positivity was detected in 39 patients. Sixteen of these had prolonged aPTT prior to surgery (41%). Others with LA positivity had systemic lupus erythematosus (SLE; n = 6), infection (n = 5), leukemia (n = 3), hemolytic uremic syndrome (n = 2), epistaxis (n = 2), antiphospholipid syndrome (APS; n = 1), chronic immune thrombocytopenic purpura (n = 1), acute poststreptococcal glomerulonephritis (n = 1), central nervous system (CNS) thrombosis (n = 1), and congenital heart disease (n = 1). None of the patients had bleeding history. LA positivity rarely leads to bleeding and/or thrombosis. Specific therapy is usually not needed. Further prospective multicenter studies are required to understand clinical outcomes and laboratory correlation in children with positive LA.

WOS: 000440491800011, PubMed ID: 29391337

13q deletion syndrome is caused by the absence of a portion of the long arm of chromosome 13. This syndrome is a rare condition characterized by a wide range of clinical findings. Phenotype varies with the location and size of the deletion. We report a female dizygotic twin with a proximal deletion of 13q and failure to thrive, hypotonia, and multiple anomalies included pytosis and total ophthalmology at right side, strabismus at left, bilateral iris heterochromia and telecantus. She had a broad nasal bridge with flat philtrum, micrognathia and antevert ear lobes. Her umbilicus had vanished. Her left coxa was dislocated and left toes were overlapped. She was also found to have hypertriglyceridemia, hypercholesterolemia, and hypothyroidism. Chromosome analysis showed a proximal deletion of chromosome 13 [karyotype 46,XX,del(13) (q14.2q31.3)] which was confirmed by high-resolution microarray based comparative genomic hybridization. The described patient is unique among similar rare cases with different deletion breakpoints. It is the first case of 13q14.2q31.3 deletion where the breakpoints are clearly defined, indicating the importance of detailed clinical description and high-resolution genomic analysis for characterization of rare genetic syndromes.

Posterior reversible leukoencephalopathy syndrome (PRES) is characterized by headache, altered mental status, cortical blindness, and seizures associated with neuroradiological findings. It involves predominantly white matter of the parieto-occipital lobes. Several medications and disorders play a role in the etiology of PRES. In this study, we aimed to show how the prognosis of PRES in hematological diseases of childhood might be according to the etiological factors.Here, we report PRES in six patients, aged 4 to 14 years, with diagnoses of leukemia and aplastic anemia.Suggested causes in our patients were chemotherapeutics, hypertension, infection and antimicrobial drug administration, tumor lysis syndrome, acute renal failure and hemodialysis, immunosuppressive drug administration, and hypomagnesemia. One of the patients died of sepsis, renal failure and pulmonary hemorrhage and another died of relapse after total recovery from PRES. The other four patients are under follow-up without problems.We suggest that PRES can recover fully with early diagnosis and treatment whereas it can show poor prognosis depending on the etiology.AMAÇ: Posterior geri dönüşümlü lökoensefalopati sendromu (PGDLS) nöroradyolojik bulgularla birlikte baş ağrısı, bilinç değişiklikleri, kortikal körlük ve nöbet ile seyreden bir sendromdur. Hastalık ağırlıklı olarak parieto-oksipital lobların beyaz cevherini tutar. Çeşitli ilaçlar ve hastalıklar PGDLS etiyolojisinde rol oynar. Bu çalışmada, çocukluk çağı hematolojik hastalıklarında altta yatan nedenlere göre PGDLS’nun nasıl seyrettiğini göstermeyi amaçladık. YÖNTEMLER: Burada, yaşları 4 ile 14 arasında olan, lösemi ve aplastik anemi tanıları ile izlenen PGDLS’lu 6 hastayı sunduk.Hastalarımızda kemoterapotikler, hipertansiyon, infeksiyon, antimikrobiyal ilaç kullanımı, tümör lizis sendromu, akut böbrek yetmezliği, hemodiyaliz, immünsüpresif ilaç kullanımı ve hipomagnezemiyi PGDLS nedenleri olarak tespit ettik. Hastalarımızdan birini sepsis, böbrek yetmezliği ve pulmoner hemaroji nedenleriyle, bir diğerini ise PGDLS tamamen düzeldikten sonra relaps nedeniyle kaybettik. Diğer dört hastamız herhangi bir problemi olmaksızın izlenmektedir. SONUÇ: PGDLS erken tanı ve tedavi ile tamamen düzeltilebilir bir hastalık olmasına rağmen altta yatan nedene bağlı olarak kötü seyirli de olabilen bir sendromdur.

Early detection of primary hypertension (HT) is essential to prevent the development of end organ damage, especially in patients with a family history of HT. Physicians must pay a great attention during the follow-up of these children. Our aim was to investigate whether children with hypertensive parents are under the risk of development of HT or not by using ambulatory blood pressure measurement (ABPM). Seventy-nine healthy children were enrolled in the study: 39 with positive familial history of primary HT (study group) and 40 without familial history of HT (control group). Complete blood count, urinalysis, and biochemical tests were performed in all children in the study group. Children in both groups were examined by casual BP measurement and ABPM. The study group had significantly higher levels of BP (p < 0.05) than the controls. In the study group systolic BP and diastolic BP loads were significantly higher than the controls (p < 0.000; p = 0.002, respectively). In conclusion, parental BP is a strong predictor of the future BP in their children. It is possible that early abnormalities of BP may escape from detection by casual office measurement, and ABPM is recommended especially to detect BP abnormalities before HT becomes clinically overt.

Aim: Varicella is a childhood disease, with its highest incidence being found in children aged 1 to 9 years. The aim of this study was to investigate the plasma oxidant and antioxidant status in Turkish children with varicella infection. Methods: The study population consisted of 29 children infected with varicella recruited from the Department of Pediatrics at Baskent University Hospital in Ankara, Turkey. The control group consisted of 20 age-matched children from the same region who were apparently otherwise healthy. After overnight fasting, venous blood samples were obtained and transferred to heparinized tubes. Plasma malondialdehyde and vitamin A levels were measured in both groups. Results: The plasma malondialdehyde levels were higher in children in the infected group than they were in children in the control group. However, there were no statistically significant differences in plasma vitamin A levels between the groups. Conclusion: This study suggests that oxidant stress causes significant peroxidation, and the antioxidant defence system is affected in varicella infection. Antioxidant supplementation may yield beneficial results in these patients. Further studies are needed to determine the positive effects of vitamin A supplementation in patients with varicella infections.

Recent studies have emphasized the presence of airway hyperreactivity (AHR) in children with sickle cell disease (SCD). However, various tests for the detection of AHR have yielded distinctly different results in these patients. This study identified AHR via a methacholine challenge test (MCT) in a group of children with SCD (31 patients; age range, 6-16 years). The results of pulmonary function tests (PFTs) in patients with SCD and age-matched controls (30 healthy children) were investigated and compared. A positive methacholine challenge result was noted in 25 patients (77.5%). We found that when compared with controls, the children with SCD had lower forced vital capacity (FVC) and forced expiratory volume in 1 sec (FEV(1)) and that both their forced expiratory flow at 25-75% of the FVC (FEF(25-75)) and their FEV(1)/FVC ratio were not statistically significantly different from those of the controls. The statistically significant differences remained after treatment with a bronchodilator agent, but the changes in the FVC, FEV(1), and FEF(25-75) in response to bronchodilator treatment did not differ with statistical significance between the two groups. There was a negative correlation between the number of ACS attacks and the percent predicted of the FEV(1) and the FEV(1)/FVC ratio. We found that the MCT reveals a high incidence of AHR in patients with SCD, regardless of whether those individuals have ACS.

Glukoz-6-fosfat dehidrogenaz (G6PD), eritrositlerde pentoz monofosfat yolunda görev alan, aynı zamanda hücreleri oksidatif stresten koruyan bir enzimdir.G6PD eksikliğinin en sık görülen klinik belirtileri yenidoğan sarılığı ve genellikle ilaçlar, enfeksiyonlar ve bazı gıdalar gibi eksojen ajanlar tarafından tetiklenen akut hemolitik anemidir. Bazı G6PD varyantları doğumsal non-sferositik hemolitik anemiye neden olabilirler. X’e bağlı resesif kalıtım göstermektedir. Hastalık erkeklerde ve homozigot kızlarda ortaya çıkar.Yirmi altı aylık kız olgumuz bakla yeme sonrasında göz akında sararma ve huzursuzluk şikayeti ile başvurdu. G6PD enzim eksikliği tanısı konulan hastanın babasında da GGPDH enzim düzeyi düşük saptandı. Ancak, baba defalarca bakla yeme öyküsü olmasına karşın herhangi bir hemolitik tablo gelişmemişti. Bu olgu, G6PD enzim eksikliğinin farklı cinsiyetlerde farklı klinik seyirlerinin olabileceğini vurgulamak amacı ile sunulmuştur., Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme included in the pentose phosphate pathway with a cellular protective effect against oxidative stress.The most frequent clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which is usually triggered by an exogenous agent such as drugs, infections and certain nutrients. Some G6PD variants cause chronic hemolysis, leading to congenital non-spherocytic hemolytic anemia. The disorder is inherited by X-linked transmission. Homozygote females and males are the cases at risk for G6PD deficiency.A 26-month-old girl presented with hemolytic anemia after eating broad beans. She was diagnosed with G6PD deficiency and interestingly the G6DP level was also decreased in her father. There was no history of hemolytic anemia in the father despite multiple exposure to broad beans. We aimed to underline the different types of clinical expressions of G6PD deficiency in different genders by presenting this case report

Adenotonsillar hypertrophy is common among children, but it can lead to serious complications if left untreated. Among the well-known complications are obstructive sleep apnea syndrome, growth failure, cor pulmonale, and hypertension. One complication of adenotonsillar hypertrophy that has not been previously reported in the English-language literature is transient cortical blindness. We describe such a case, which occurred in a 6-year-old boy who presented with a sudden loss of vision and subsequent unconsciousness. He had experienced hypercapnia and was resuscitated via endotracheal tube ventilation. Laboratory and radiologic assessments found no pathology except for extremely enlarged adenoid tissue. Once the patient was stabilized, an urgent adenotonsillectomy was performed. The patient recovered well, and his vision and respiratory symptoms resolved. Severe hypertrophy of the adenoid tissue can cause hypercapnia and acidosis secondary to upper airway obstruction. The possibility of adenoid hypertrophy and hypercapnia should be kept in mind in cases of transient cortical blindness. Aggressive treatment, including early intubation and adenoidectomy, may lead to a rapid resolution of symptoms.

Pancreatic infiltration with leukemic cells is a rare manifestation of acute lymphoblastic leukemia. There are only a few reported cases. We report the clinical and radiologic findings of a 4-year-old boy with mature B-cell acute lymphoblastic leukemia and pancreatic involvement. A computed tomography scan of his abdomen demonstrated diffuse hypodense lesions in the pancreas. Plasma amylase and lipase levels at that time were high, but no signs of hypoglycemia or hyperglycemia were observed. After 2 cycles of chemotherapy, the lesions in his pancreas, liver, and kidney disappeared, and his pancreatitis resolved as well. At 11 months' follow-up, after completion of therapy, the patient continues to be in remission.

Although childhood acute lymphoblastic leukemias are of good prognosis than leukemias of adulthood, some chromosomal abnormalities may have negative effects on their prognosis. Inverted duplication (1q) is a chromosomal abnormality with negative effect on outcome of Burkitt leukemia and lymphomas. We report a case of CD20 Burkitt leukemia with inverted duplication (1q) mutation, who had an early relapse during NHL-BFM 95 treatment. Two courses of ICE-rituximab treatment were administered after relapse and a successful HLA-full match bone marrow transplantation was carried out. He is in follow-up for 18 months without any problem after the bone marrow transplantation. We suggest the usage of ICE protocol combined with rituximab in childhood CD20 Burkitt leukemia with poor prognostic criteria such as inverted duplication (1q) mutation.