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Objective: Rare factor deficiencies are a group of autosomal recessive bleeding disorders (with the exception of dysfibrinogenemia), which are characterized by the deficiency or dysfunction of one or more coagulation factors (F)I, FII, FV, FV+FVIII, FVII, FX, FXI, FXII, and FXIII. Materials and Methods: 188 patients with a rare factor deficiency from seven distinct pediatric hematology centers in Turkey were obtained for the study. Results: 60 (31.9%) patients had a family history of bleeding. Consanguinity was detected in 85 patients (45.2%). 128 patients (68.1%) were symptomatic; the most common bleeding symptom was epistaxis (34.6%) and followed by the bleeding of skin (19.1%), oral cavity (16.1%), soft tissue (8%), central nervous system (CNS) (6.2%), uterine (4.9%), joint (3.7%), gastrointestinal system (GIS) (3.7%), and urinary system (US) (3.7%). The first bleeding sites consist of nose (39%), CNS (10.9%), oral cavity (10.9%), skin (10.9%), umbilical cord (10.2%), GIS (5.5%), US (5.5%), heel (4.7%), and musculoskeletal system (2.3%). CNS hemorrhage was the most common in fibrinogen (n:4), FVII (n:6), and FX (n:2) deficiency, umbilical cord bleeding was the most common in fibrinogen (n:3) and FXIII (n:7) deficiency, heel bleeding was frequently seen in fibrinogen (n:6) deficiency. The life-threatening bleedings were CNS (n:27, 77.1%), GIS (n:7, 20%), and iliopsoas (n:1, 2.9%), respectively. The reasons leading to the diagnosis were bleeding (57.4%), preoperative screening (15.4%), incidental (15.4%), family history (6.4%), and postoperative bleeding (5.3%). 2/5 FXII deficiency patients had mild bleeding symptoms. Conclusion: As bleeding disorders are somehow a rare group of disorder, early diagnosis and treatment are critical to reduce the high morbidity and mortality [ABSTRACT FROM AUTHOR]

Minimal residual disease (MRD) is the most important prognostic indicator in acute lymphoblastic leukemia (ALL) in childhood. Multiparametric flow cytometry (FCM) is a technique that is often used to determine MRD, and many markers have been identified. Another marker examined in the MRD analysis is CD49f. We aimed to determine the importance of CD49f expression in MRD detection. Immunophenotyping MRD and CD49f expressions were performed in patients with Pre-B cell ALL at the diagnosis, and on the day 15. 27 patients were included (F/M: 10/17). The mean age was 6.6±4.8 years. 6 (22.2%) patients were in the standard risk group, 14 (51.9%) patients were in the intermediate risk group, and 7 (25.9%) patients were in the high-risk group. MRD was detected in 15 (55.6%) patients. Cytomorphological remission was observed in 21 (77.7%) patients on the 15th day. 10 of these patients (66.6%) were MRD positive. CD49f levels at diagnosis and at 15th day were mean 38.4 ± 22.1 and 5.4±12.6, respectively. A significant decrease in CD49f expression was observed at follow up (p=0.00). Mean CD49f levels in MRD positive and MRD negative patients were 7.8±17 and 2.8±2 at day 15, respectively (p=0.64). There was no correlation between MRD and CD49f at day 15 (p=0.54). We observed that leukemic blasts express CD49f at a high rate, and this expression continues to decrease on the 15th day. We concluded that studies including more patients are required to assess the performance and importance of CD49f as an indicator in MRD. [ABSTRACT FROM AUTHOR]

Copyright of Turkish Journal of Hematology is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: The essential characteristics of posterior reversible encephalopathy syndrome (PRES) are the presence of acute onset neurologic symptoms, focal vasogenic edema at neuroimaging, and reversible clinical and/or radiologic findings. This study aimed to evaluate the clinical findings, causes, radiologic findings, and prognoses of patients with PRES. Methods: Patients with PRES confirmed with clinical and radiologic findings by a pediatric neurologist were evaluated retrospectively. Results: Seventeen patients with PRES were evaluated (mean age at onset, 10.23 ± 4.65 years; range, 2-17 years; girls, 29.4% [n = 5]). The mean length of follow-up was 6 ± 2.3 years (range, 3.4-10 years). Mortality due to primary disease occurred in 4 patients (23.5%) during follow-up. PRES was derived from renal diseases in 10 patients (58.8%), hematologic diseases in 6 patients (35.3%), and liver disease in one patient (5.9%). Hypertension was present in 16 patients (94.1%) at onset of PRES (>99th percentile). Seizure, the most frequent initial symptom, was observed in 82.4% (n = 14). Blurred vision and headache were the initial symptoms in 3 patients (17.6%). Sequelae were observed at magnetic resonance imaging (MRI) in 6 patients. Development of epilepsy was determined as a sequela in 4 patients (23.5%) and mental motor retardation in 2 patients (11.8%). Conclusion: Epilepsy is uncommon in patients who have recovered from PRES. The presence of gliosis on MRI and interictal epileptic discharges on electroencephalograms are major risk factors for the development of epilepsy. Antiepileptic treatment can be stopped in the early period in patients with normal MRI and electroencephalogram by eliminating the factors that trigger the seizures. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: Type 2B von Willebrand disease (VWD) is a hereditary bleeding disorder caused by changes in the von Willebrand factor (VWF), which increases the binding of VWF to platelets. Type 2B VWD may present with thrombocytopenia. Case Report: A four-day-old newborn was brought to the neonatal intensive care unit presenting with bleeding and severe thrombocytopenia. The platelet level was 10,000/mm3, and coagulation tests were normal. There were no clinical evidence of sepsis; therefore, alloimmune or autoimmune thrombocytopenia was suspected. When we found out that her mother and relatives had intermittent thrombocytopenia, advanced tests were performed. Ristocetin cofactor activity was low; type 2 VWD was considered. Using low-dose ristocetin, we increased platelet aggregation. Heterozygous c.3946G > A (p.Val-1316Met) mutation was detected, and type 2B VWD was diagnosed. Conclusion: Type 2B VWD may cause a diagnostic problem in the differential diagnosis of neonatal thrombocytopenia including neonatal autoimmune thrombocytopenia. [ABSTRACT FROM AUTHOR]

We examined outcomes of 62 pediatric patients with relapsed or refractory non-Hodgkin lymphoma (rr-NHL) who underwent hematopoietic stem cell transplantation (HSCT). The overall survival (OS) and event-free survival (EFS) rates were 65% and 48%, respectively. Survival rates for patients with chemosensitive disease at the time of HSCT were significantly higher than those of patients with chemoresistant disease (69% vs. 37%,p = .019 for OS; 54% vs. 12%,p < .001 for EFS; respectively). A chemoresistant disease at transplantation was the only factor that predicted a limited OS (hazard ratio = 10.00) and EFS (hazard ratio = 16.39) rates. Intensive chemotherapy followed by HSCT could be an effective strategy for treating children with rr-NHL and may offer improved survival for a significant group of pediatric patients, particularly those with chemosensitive disease at transplantation. [ABSTRACT FROM AUTHOR]

Objective: Disseminated intravascular coagulation (DIC) is one of the most serious hemostatic abnormalities in the pediatric intensive care unit (PICU). The primary treatment for DIC is correction of the underlying disease while the role of antioxidant therapy is controversial. In this study, we aimed to evaluate the levels of vitamin E, selenium and glutathione peroxidase (GPx) activity in DIC patients. Material and Methods: Between September 2011 and October 2013, 150 patients diagnosed with DIC in the PICU were enrolled in this study. Patients who received blood transfusion within 24 hours before admission to the PICU were excluded. The DIC score was calculated according to the International Society on Thrombosis and Haemostasis diagnostic scoring system, and patients were divided into two groups according to their DIC score (DIC< 5 and DIC ≥5). Demographic data, age, gender, initial diagnosis, Pediatric Risk of Mortality (PRISM) and Pediatric Logistic Organ Dysfunction (PELOD) scores, selenium, vitamin E levels and GPx activity, were evaluated. Results: Participants included 78 boys and 72 girls with a median age of 50 months (12-106 months). In all patients, selenium, vitamin E levels, and GPx were 67.8±36.5 pg/L, 9.7±2.8 mg/L and 82.9±44.3 U/L respectively. Vitamin E, selenium and GPx were significantly lower in the DIC ≥ 5 group (p<0.01, p<0.001 and p<0.001, respectively). We further divided the patients with scores of DIC ≥ 5 into two groups, and the sepsis group had significantly lower selenium, vitamin E, levels and GPx activity (p=0.003, p=0.044, and p=0.007, respectively). Conclusion: In patients with DIC, plasma selenium and vitamin E levels and GPx activity were significantly lower in critically ill children. This was more prominent in those with sepsis. We believe that vitamin E and selenium supplementation is useful in treating critically ill patients with DIC, especially those with sepsis. In order to develop treatment algorithms, prospective clinical studies with a larger patient population are warranted. [ABSTRACT FROM AUTHOR]

Copyright of Erciyes Medical Journal / Erciyes Tip Dergisi is the property of KARE Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Hyperhomocysteinemia is recognized as an independent risk factor for cardiovascular disease, especially atherosclerosis, in adult patients with chronic renal failure (CRF). However, there is little information about the relationship between plasma homocysteine levels and left ventricular hypertrophy. The aim of this study was to determine plasma homocysteine levels and risk factors for left ventricular hypertrophy and to investigate the relationship between plasma homocysteine concentration and left ventricular mass index (LVMI) in children with CRF. The homocysteine level was measured by high-performance liquid chromatography and LVMI was calculated using echocardiographic findings in 27 children with CRF and 16 healthy controls. The mean LVMI and mean plasma homocysteine concentration in the CRF group, especially in patients with end-stage renal disease, were statistically higher than the control group (P<0.05). There was no correlation between LVMI and plasma homocysteine concentration. There was a positive correlation between plasma homocysteine concentration and serum creatinine level. There was a positive correlation of LVMI with creatinine and blood pressures (systolic, diastolic, and mean arterial pressure). There was a negative correlation of LVMI with hemoglobin level in multiple linear regression analysis. In our view homocysteine does not have a direct effect on left ventricular structure and left ventricular hypertrophy is the end organ damage associated with hypertension, anemia, and CRF. More prospective studies are needed to better clarify the inter-relationships of plasma homocysteine level and left ventricular structure in children with CRF. [ABSTRACT FROM AUTHOR]

Introduction: In Hodgkin's Lymphoma (HL), PET-CT is the ''gold-standard'' examination for clinical staging. However in HL, MR imaging with whole-body screening also widely used for ease of accessibility and examination, lack of ionizing radiation and radioactive substances. However, not enough study has been found in the literature in this regard. Material and Method: Whole-body coronal STIR sequential MR findings were compared with PET-CT findings which is done for staging and follow-up of 15 children with HL, between February 2016 and October 2017, in our clinic. Results: Nodal findings and extra-nodal findings were documented according to the location and the presence of suspicious or malignant features in 15 patients (7 females) with a mean age of 12.9 (3-17) years. In 14 cases, nodular findings were compatible, whereas in one case, cervical lymp nodes considered as benign in MRI were suspicious in PET-CT due to mild hypermetabolism. We found that coronal STIR MR imaging has an important contribution to the evaluation of nodular and extra-nodular findings of HL. Conclusion: While whole-body STIR MR imaging for HL staging and follow-up makes a significant contribution in appropriate indications, larger series required. [ABSTRACT FROM AUTHOR]

Introduction: The etiology, clinical findings, treatment and imaging methods to evaluate of non-traumatic brain hemorrhages. Material and Method: The cases followed the Erciyes University Pediatrics patient clinic between 2010-2017 were retrospectively scanned from file and hospital information systems (HBYS, SECTRA). The patients was done classification of clinic, imaging results and etiology. Results: The cases were classified as intraparenchymal, intraventricular, and subdural hemorrhage. Vascular malformation and systemic diseases were evaluated. Twenty-five cases were evaluated retrospectively and presented with radiological and clinical features. Of the existing cases, 11 (44%) were in the systemic disease and intracranial bleeding group and 3 (12%) were in the group of bleeding due to vitamin K deficiency. 8 (32%) were bleeding due to vascular malformation. 3 (12%) had premature and germinal matrix hemorrhage. In 1 (4%) cases there was secondary bleeding in the intake of drugs. Presented cases are selected from the sample group. Conclusion: Traumatic intracranial hemorrhage is important. Non-traumatic hemorrhages was important and emphasized the of prophylaxis, treatment, etiology. [ABSTRACT FROM AUTHOR]

Introduction: Candida species found in normal human flora can cause infection in immunocompromised patties. Although Candida infections are frequently observed with Candida albicans strains, the incidence of infections with non-albicans strains has increased recently. Candida kefyr, one of these, is a rare fungal pathogen. We aimed to present our experience in five patients with Candida kefyr infection between 2010-2018. Case report: C. kefyr grew from the blood culture in a 2-years-old girl with mediastinal T-cell lymphoblastic lymphoma when the absolute neutrophil count was 1070/mm3, and the patient was receiving oral voriconazole and iv amphotericin B. These two antifungal drugs were then switched to fluconazole. C. kefyr was re-established in blood culture 45 days after the first grew so fluconazole treatment continued because it was sensitive. A 2-years-old girl with pulmonary primitive neuroectodermal tumor was hospitalized for febrile neutropenia. Although antibiotic, fluconazole, and granulocyte colony stimulating factor treatment was used, C. kefyr grew in the blood cultures. Amphotericin b that found to be sensitive was switched. There was no reproduction in the control blood culture. One-year-old boy with infantile leukemia with a history of hematopoietic stem cell transplantation was admitted with diarrhea and hospitalized with a differential diagnosis of gastrointestinal graft versus host disease. Fluconazole therapy which was sensitive to the isolated strain was given to the patient. There was no reproduction in the follow up. A 17-year-old male patient with medullary and central nervous system relapse was hospitalized for hematopoietic stem cell transplantation. Lumber punction was performed because the patient has h high fever and headache. He was neutropenic, and C. keyfr was grew from the cerebro spinal fluid Amphothericin B was replaced with caspofungin which was found to be effective to the isolated C. kefyr. He was discharged with oral voriconazole therapy. A 9-year-olds girl with B-cell Acute lymphoblastic leukemia was hospitalized for neutropenic fever, and shortness of breath, cough, and mucositis. The C. kefyr grew from sputum, so fluconazole treatment was given for 21 days. Her respiratory symptoms were resolved with this treatment. Conclusion: C. keyfr is one of the most frequently isolated non albicans candida fungal pathogens in our treated patients. C. kefyr should be considered to as a relatively common and potentially causative non C. albicans agent in children with hematological malignancy and bone marrow transplantation. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented which is concerned with a case of iron deficiency anemia in a child that was caused by lithobezoar.

Pseudomonas aeruginosa bacteremia or sepsis often occurs in hospitals, affecting mainly children with underlying disease. Ecthyma gangrenosum is classically considered a pathognomonic sign of sepsis by P. aeruginosa. The harlequin baby, a severe variant of ichthyosis, occurs rarely, and these infants are at high risk of cutaneous infections and sepsis. We herein report a harlequin baby who developed ecthyma gangrenosum. [ABSTRACT FROM AUTHOR]

Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity of PK deficiency (PKD) is high, and over 400 unique variants have been identified. Twenty-nine patients who had been diagnosed as PKD genetically in seven distinct paediatric haematology departments were evaluated. Fifteen of 23 patients (65.2%) had low PK levels. The PK:hexokinase ratio had 100% sensitivity for PKD diagnosis, superior to PK enzyme assay. Two novel intronic variants (c.695-1G>A and c.694+43C>T) have been described. PKD should be suspected in patients with chronic non-spherocytic haemolytic anaemia, even if enzyme levels are falsely normal. Total PKLR gene sequencing is necessary for the characterization of patients with PKD and for genetic counselling., (© 2024 British Society for Haematology and John Wiley & Sons Ltd.)

CMV is a virus that is asymptomatic in healthy individuals but can cause serious mortality and morbidity in transplant patients and patients with acquired immunodeficiency syndrome (AIDS). Ganciclovir (GCV) is a nucleoside analog that significantly reduces morbidity and mortality in CMV-related infections and is used as the first choice in treatment. It is the first drug shown to be effective in the treatment of CMV disease in humans, and is also homologous to acyclovir. Long-term antiviral therapy is required to prevent or treat CMV disease, but this can cause antiviral resistance which was reported to be 8-14% in CMV. In CMV strains, GCV resistance is most common in the UL97 kinase gene region. The aim of this study was to investigate GCV resistance in CMV strains obtained from the patients with immune deficiency. A total of 49 patients, including 20 children, 29 adults, who were followed in the department of hematology were included in the study. Fifty-three samples from 49 patients with CMV DNA viral load ≥ 103 copies/ml were examined for GCV resistance. In the study, DNA sequences were determined by Sanger sequence analysis method 3500 Abi Prism Genetic Analyser (Applied Biosystems, Thermo Fisher Scientific, USA) in the 674 bp part of the UL97 gene region. The next generation sequencing (NGS) method was applied to the samples that could not be evaluated with this method. GCV resistance was not detected in 35 (66%) of 53 samples with the Sanger method. C592G, C607S and M460I GCV resistance mutation was detected in three patients. Since the sequences were mixed, resistance analysis could not be evaluated with Sanger in 15 patient samples and the resistance was not detected in these samples studied with NGS. Antiviral resistance mutation was detected in three of 49 patients (6.1%). In 20 patients included in the study, three variant sequences (A442G, C592F, A427V) reported in the literature and determined to be sensitive to drugs by phenotypic tests and 78 variant sequences that were not reported in the literature were detected. As a result, the detection of antiviral resistance is important in the follow-up of the patients and guides the clinician in planning of the treatment. It was concluded that the samples that could not be evaluated with the Sanger method should be studied with NGS and further studies are needed to determine the role of the variant sequences detected for the first time in drug resistance.