Idiopathic Hypereosinophilic Syndrome Associated With Pulmonary Hypertension in an Infant.

Hypereosinophilic syndrome (HES) is a very rare disease during childhood. It involves the different organs like skin, gastrointestinal system, heart and lungs, besides pulmonary hypertension (PHT) is a very rare morbidity of HES that may cause life-threatening complications. PHT improves with the treatment of hypereosinophilia, without the need for pulmonary vasodilator therapy. Here, we present a case of PHT developed after recovery of pulmonary infiltration in an infant with idiopathic HES. We revealed that pulmonary pressure returned to normal range in parallel with the decrease in eosinophil count with steroid treatment.

Hepatitis-Associated Aplastic Anemia: Etiology, Clinical Characteristics and Outcome.

Hepatitis-associated aplastic anemia (HAA) is a form of acquired aplastic anemia (AA) in which bone marrow failure develops after an acute attack of hepatitis. Bone marrow failure leading to AA is generally severe in cases of HAA and fatal if left untreated. This retrospective multicenter study investigated clinical and laboratory characteristics, possible causes, treatment, and outcome of HAA in children. Twenty patients from 8 centers were included in the study. Aspartate aminotransferase and alanine aminotransferase were <3 to 5×upper limit of normal (ULN) in 2 patients, <5 to 10×ULN in 2 patients, and >10×ULN in 16 patients. Acute liver failure developed in 5 (29%) patients. Pancytopenia was simultaneously present in 6 of 20 (30%) patients. Eleven of the 20 patients (55%) were alive, in remission and transfusion free. Those who were alive either had undergone hematopoietic stem cell transplantation and/or immunosuppressive treatment, except 1 patient who had received no treatment. Patients with the diagnosis of acute hepatitis should be evaluated and followed up carefully for presence of cytopenia, so that definitive treatment of AA can be initiated in a timely and appropriate manner when needed.

Antifungal Therapy in Pediatric Acute Lymphoblastic Leukemia: A Single-center Experience.

INTRODUCTION: Invasive fungal infections (IFIs) are significant causes of morbidity and mortality in leukemia patients. This study investigated antifungal treatment and prophylaxis features according to leukemia risk groups and treatment phases in pediatric acute lymphoblastic leukemia (ALL) patients who received Berlin-Frankfurt-Munster-based protocols. MATERIALS AND METHODS: We retrospectively examined ALL patients' data between the ages of 1 and 18 and treated them with Berlin-Frankfurt-Munster-ALL protocols between June 2013 and December 2016. RESULTS: A total of 446 febrile neutropenic attacks in 85 children were evaluated. Seventy-two patients received antifungals in 151 infection attacks, while 13 patients did not receive any antifungal treatment during chemotherapy. Empirical, preemptive, or proven treatments were given to 74.8%, 21.2%, and 4% of patients, respectively. The frequency of antifungal therapy increased linearly and significantly from the standard-risk group to the intermediate-risk (IR) group, high-risk (HR) group, and relapsed group. IR patients needed more antifungal therapy while receiving induction, whereas HR patients needed more throughout the induction and HR consolidation blocks than other phases. During induction, IR patients received antifungal therapy similar to HR patients' treatment in the induction and HR consolidation blocks. CONCLUSIONS: Antifungal therapy requirements increased as the severity and intensity of chemotherapy increased for all leukemia risk groups. The requirement of antifungal therapy for IR patients receiving induction was similar to that of HR patients; further studies are needed to evaluate the potential advantages of using primary antifungal prophylaxis in IR patients.

Health-related Quality of Life for Children With Leukemia: Child and Parental Perceptions.

BACKGROUND: The importance of health-related quality of life (HRQoL) in patients with acute lymphoblastic leukemia (ALL) has increased in recent years. This study aimed to assess HRQoL in children with ALL, affecting factors, and the relationship between parent proxy-report and child self-report HRQoL. MATERIALS AND METHODS: A total of 59 children and their parents (both mother and father) were enrolled in this cross-sectional study. Turkish version of the Pediatric Quality of Life Inventory (PedsQL) 3.0 Cancer Modules were used to determine HRQoL. RESULTS: According to subscales of the self-report form, nausea and operational anxiety scores differed significantly by the treatment status; communication score varied considerably by the hospitalization length of stay; pain and hurt, cognitive problems, and perceived physical appearance scores differed significantly by the maternal chronic disease status (P<0.05). The presence of maternal chronic disease was significantly related to the total score of the parent-proxy report (mother) (P<0.05). There was a moderate correlation between total scores of child and mother (P<0.05, r=0.419) but not with the father. CONCLUSION: Children on-treatment had significant problems in nausea and procedural anxiety subscales; however, children who were hospitalized more had fewer issues in the communication subscale. Also, children whose mother had chronic disease had poorer HRQoL regarding pain and hurt cognitive problems and treatment anxiety. Given the importance of assessment and monitoring HRQoL in children with ALL, health professionals should be aware of how parents' chronic disease affects HRQoL. Psychosocial support should be provided to children and their parents, especially for those whose parents have a chronic illness.

Posterior Reversible Encephalopathy Syndrome in Childhood Hematological/Oncological Diseases: Multicenter Results.

The aim of the study was to analyze the characteristics of posterior reversible encephalopathy syndrome (PRES) cases treated at 10 different institutions in our country. Fifty-eight patients diagnosed with PRES were included in this study. The data of PRES cases from 10 departments of pediatric hematology/oncology were analyzed. The mean age of the patients at the time of diagnosis of PRES was 8.95±3.66 years. Most patients (80.4%) had a primary diagnosis of acute leukemia. Patients received chemotherapy (71.4%) and/or used steroids within 14 days before the diagnosis of PRES (85.7%). Hypertension was found in 83.9% of the patients. Twenty-six patients had infections and 22 of them had febrile neutropenia. The most common electrolyte disorders were hypocalcemia, hypomagnesemia, and hypopotassemia. Six patients had tumor lysis syndrome and 4 had inappropriate antidiuretic hormone syndrome. Magnetic resonance imaging was used for diagnosis in all patients. The most commonly involved regions by magnetic resonance imaging were occipital (58%), parietal (51%), and frontal lobes (45%), respectively. Twenty-five patients required intensive care and 7 patients were intubated. In conclusion, PRES may develop during the follow-up and treatment of hematological diseases. In addition to steroid and intense combined chemotherapies, immunosuppressive agents and hypertension are also factors that may be responsible for PRES.

Children With Behçet Disease-associated Thrombosis: A Single-Center Experience.

Behçet disease (BD) is a systemic vasculitis that can be complicated with thrombosis, which is an important cause of mortality and morbidity. The course of BD is more severe, and the diagnosis is usually delayed. In children, thrombosis associated with BD is very rare. In this study, we aimed to evaluate the characteristics of children with BD complicated with thrombosis. Forty-six patients with BD who were followed-up at a pediatric rheumatology department between January 2012 and September 2019 were evaluated retrospectively. Thrombosis was detected in 10 patients (21.7%), and it was the first sign of BD in 7 patients. Four patients had cerebral sinus venous thrombosis, 4 patients had deep-vein thrombosis, 1 patient had renal vein thrombosis, 1 had pulmonary artery thrombosis, and 1 had intracardiac thrombosis. None of the patients had arterial thrombosis. All patients had received anticoagulant therapy with immunosuppressive treatment. Any complication due to anticoagulant therapy was not detected. One patient had recurrent thrombosis, and none of the patients died during follow-up. Vasculitic diseases such as BD may cause a predisposition to thrombosis, and thrombosis might be the first sign of BD. Therefore, in children presenting with unprovoked thrombosis, BD should also be investigated.

Percutaneous Drainage of an Iliopsoas Hematoma in a Hemophilia Patient.

In patients with hemophilia, the usual treatment for both iliopsoas hematoma and associated femoral nerve compression is conservative. The case presented herein is a moderate hemophilia A patient with significant femoral neuropathy due to iliopsoas hematoma whose symptoms could not be managed with an aggressive factor VIII replacement program for >2 weeks. An unusual treatment option - percutaneous catheter insertion and aspiration of the hematoma - alleviated the examination findings and reversed his abilities.

Impact of Prophylaxis on Bone Mineral Metabolism in Children With Hemophilia.

In this study, we aimed to investigate changes in calcium (Ca) metabolism in hemophilia patients (PWH). We also aimed to investigate the importance of diagnosis and treatment of factors impairing calcium metabolism and the significance of early diagnosis and prophylaxis with respect to these subjects. For all patients, serum calcium, phosphorus, alkaline phosphatase, 25 hydroxy vitamin D (25-OHD), parathormone (PTH), and calcitonin levels were evaluated. Bone mineral density (BMD) was assessed by dual-energy x-ray absorptiometry. Low BMD scores and 25-OHD deficiency were observed in 29 (74.4%) and 34 (87.2%) patients, respectively. Prophylaxis of PWH did not differ significantly in terms of 25-OHD levels and BMD scores. Patients in the prophylaxis group had significantly higher PTH levels (P=0.042). A negative correlation was found between PTH measurements and Z-score (P=0.008). In summary, our findings, with a small number of PWH in our study group, suggest that biochemical markers of bone turnover may be used to detect bone loss. Follow-up through annual BMD measurements coupled with appropriate exercise programs could be recommended.

Hepatosplenic Fungal Infections in Children With Leukemia-Risk Factors and Outcome: A Multicentric Study.

BACKGROUND: Invasive fungal infections, including hepatosplenic fungal infections (HSFI), cause significant morbidity and mortality in children with leukemia. There are not enough data to support for the best approach to diagnosis of HSFI in children, nor for the best treatment. PROCEDURE: In this multicentric study, we assessed the demographic data, clinical and radiologic features, treatment, and outcome of 40 children with leukemia and HSFI from 12 centers. RESULTS: All cases were radiologically diagnosed with abdominal ultrasound, which was performed at a median of 7 days, of the febrile neutropenic episode. Mucor was identified by histopathology in 1, and Candida was identified in blood cultures in 8 patients. Twenty-two had fungal infection in additional sites, mostly lungs. Nine patients died. Four received a single agent, and 36 a combination of antifungals. CONCLUSIONS: Early diagnosis of HSFI is challenging because signs and symptoms are usually nonspecific. In neutropenic children, persistent fever, back pain extending to the shoulder, widespread muscle pain, and increased serum galactomannan levels should alert clinicians. Abdominal imaging, particularly an abdominal ultrasound, which is easy to perform and available even in most resource-limited countries, should be recommended in children with prolonged neutropenic fever, even in the absence of localizing signs and symptoms.

A Case With Pyruvate Kinase Deficiency Remarkably Sensitive to Heat.

Pyruvate kinase (PK) deficiency is the most common defect of the glycolytic pathway leading to congenital hemolytic anemia. We present the case of an 18-year-old boy with chronic nonspherocytic hemolytic anemia, who had remarkable sensitivity to heat. Moreover, the patient showed clinical impairment in the last year. For this reason, we excluded the immunologic or infectious nature (malaria, babesia), which may play a role in the worsening of anemia. Red blood cell enzyme assay showed the presence of a significant increase in other enzyme activities, except for PK, suggesting a PK deficiency in the patient. The molecular analysis of the PK-LR gene revealed the presence of a novel homozygote missense mutation (c.581G>C, p.Arg194Pro). The mutant enzyme displayed heat instability. In addition, we analyzed bilirubin uridine diphosphate (UDP)-glucuronosyltransferase 1A1 gene that revealed a heterozygous state ([TA]6/[TA]7). After a clear diagnosis of PK deficiency, the patient underwent splenectomy.

Effects of iron and vitamin B12 deficiencies on peripheral blood colony-forming unit capacity.

Iron and vitamin B12 deficiencies are two of the most common diseases in the childhood group. Deficiencies of iron and vitamin B12 affect many systems in the body. In this study, to discover the effects of iron and vitamin B12 deficiencies on the hematopoietic stem cells, we studied CFU assay from peripheral blood. One hundred and two children were included in our study and were evaluated in five categories: iron deficiency, iron deficiency anemia, vitamin B12 deficiency, iron and vitamin B12 deficiency, and controls. As a result of statistical analysis, no significant difference was detected between five groups in terms of CFU assays. The results of our study suggest that, in emergent situations, stem cell samples can be collected before treatment with B12 or iron which are common deficiencies in donors of hematopoietic stem cell transplantation. We conclude that we could reach more accurate results by designing a study which contains more patients and includes in vivo results.

Effect of maternal and neonatal interleukin-6 - 174 G/C polymorphism on preterm birth and neonatal morbidity.

OBJECTIVE: The aim of this study was to analyze maternal and neonatal interleukin 6 (IL-6) (-174 G/C) polymorphism and to determine effect on preterm birth and neonatal morbidity. STUDY DESIGN: One hundred and sixty-four mothers (100 term births, 64 preterm births) and 183 newborn infants who were 100 healthy term and 83 preterm babies followed in newborn intensive care units were evaluated. PCR-RFLP was performed for IL-6 (-174 G/C) genotyping. RESULTS: The rate of GG genotype in mothers of term and preterm infants were 54% (n = 54/100), 75% (n = 48/64), respectively (p > .05) and the rate of GC + CC genotype was 46% (n = 46/100) and 25% (n = 16/64) in mothers giving term and preterm birth (PTB), respectively (p < .05). Additionally, the rate of GG genotype was 65% (n = 65/100) and 81.9% (n = 68/83) in term infants and preterm infants, respectively. GC + CC genotype was 35% (n = 35/100) in term infants and 18.1% (n = 15/83) in preterm infants (p < .05). The effect of IL-6 (-174) GC + CC genotype on PTB was statistically significant. CONCLUSION: The IL-6 174 G/C gene polymorphism was significantly different between mothers who were giving to term and preterm birth. The presence of polymorphism is protective against preterm birth and was not associated with neonatal outcome.