Search

WOS: 000426572200002, PubMed ID: 28404539, Objective: The Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate the demographic and disease characteristics of patients and assess the efficacy of a hemoglobinopathy control program (HCP) over 10 years in Turkey. Materials and Methods: A total of 2046 patients from 27 thalassemia centers were registered, of which 1988 were eligible for analysis. This cohort mainly comprised patients with beta-thalassemia major (n = 1658, 83.4%) and intermedia (n = 215, 10.8%). Results: The majority of patients were from the coastal areas of Turkey. The high number of patients in Southeastern Anatolia was due to that area having the highest rates of consanguineous marriage and fertility. The most common 11 mutations represented 90% of all beta-thalassemia alleles and 47% of those were IVS1-110(G->A) mutations. The probability of undergoing splenectomy within the first 10 years of life was 20%, a rate unchanged since the 1980s. Iron chelators were administered as monotherapy regimens in 95% of patients and deferasirox was prescribed in 81.3% of those cases. Deferasirox administration was the highest (93.6%) in patients aged, Ege Children's Foundation; Novartis Pharmaceuticals CorporationNovartis, The authors thank Caglar Serdar, Aylin Gokduman, and Tolga Turgay of Plexus Information Technologies for their website support. The current study and the work presented here are from an Investigator Initiated Trial, which was sponsored by the Ege Children's Foundation and funded by Novartis Pharmaceuticals Corporation.

We report two children who were diagnosed as having primary hemophagocytic syndrome and who successfully underwent therapeutic plasma exchange (TPE). The first patient was a 6-month-old girl diagnosed with HLH who was admitted to the pediatric intensive care unit. The patient's clinical condition worsened on the 9th day of the HLH-2004 treatment protocol. Her ferritin level was found 50.000 ng/mL, and TPE was performed for 9 sessions, after which her clinical condition and laboratory findings improved. The patient is still on the HLH-2004 protocol and waits for a suitable stem cell transplantation donor. Case 2 involved a Syrian girl with HLH under follow-up who was receiving the HLH-2004 treatment protocol for reactivation. She presented to emergency department with fever, where her ferritin level was measured greater than 100.000 ng/mL; she was then transferred to the pediatric intensive care unit where four sessions of TPE were performed, after which her clinical condition and laboratory findings improved. However, the patient was admitted again one month later with gastrointestinal bleeding and died despite all efforts. By describing these two cases, we wish to emphasize that TPE can produce a rapid improvement until the time of stem cell transplantation in patients with hemophagocytic syndrome who do not respond to traditional treatments.

WOS: 000478208700001, PubMed ID: 31321910, Background Severe congenital neutropenia is a rare disease, and autosomal dominantly inherited ELANE mutation is the most frequently observed genetic defect in the registries from North America and Western Europe. However, in eastern countries where consanguineous marriages are common, autosomal recessive forms might be more frequent. Method Two hundred and sixteen patients with severe congenital neutropenia from 28 different pediatric centers in Turkey were registered. Results The most frequently observed mutation was HAX1 mutation (n = 78, 36.1%). A heterozygous ELANE mutation was detected in 29 patients (13.4%) in our cohort. Biallelic mutations of G6PC3 (n = 9, 4.3%), CSF3R (n = 6, 2.9%), and JAGN1 (n = 2, 1%) were also observed. Granulocyte colony-stimulating factor treatment was given to 174 patients (80.6%). Two patients died with infectious complications, and five patients developed myelodysplastic syndrome/acute myeloblastic leukemia. The mean (+/- mean standard error) follow-up period was 129.7 +/- 76.3 months, and overall survival was 96.8% (CI, 94.4-99.1%) at the age of 15 years. In Turkey, severe congenital neutropenia mostly resulted from the p W44X mutation in the HAX1 gene. Conclusion In Turkey, mutation analysis should be started with HAX1, and if this is negative, ELANE and G6PC3 should be checked. Because of the very high percentage of consanguineous marriage, rare mutations should be tested in patients with a negative mutation screen., Scientific and Technological Research Council of Turkey (TUBITAK)Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK); Turkish Pediatric Hematology Association, This study was supported by Scientific and Technological Research Council of Turkey (TUBITAK) and the Turkish Pediatric Hematology Association.

Introduction: Beta-thalassemia is the most common autosomal recessive disease. More than 200 differentmutations determined in beta-globin gene. Beta thalassemia disease has a severe clinical picture. Treatment of thediseases should be maintained properly otherwise quality of life and life period can be affected. In this study, we triedto reveal inherited beta-thalassemia mutations in surrounding areas of Gaziantep.Material and Methods: In this study, we included 208 patients who applied with beta -thalassemia suspicion to thepediatric hematology clinic (age range 4-14). In that study, 138 patients with homozygous mutations and 70 patients’heterozygous mutations were identified. HBB gene was sequenced by Sanger DNA Sequencing method.Results: Most common homozygote mutations are IVS I-110 G>A, IVS I-1 G>A, IVS II-1 G>A, the heterozygotemutations are IVS I-110 G>A, IVS II-1 G>A, codon 8 (AA) del. The incidence of IVS 1.110 (G>A) mutation is 24%, 28in homozygote patients, 29.7% in heterozygote patients. The 8% homozygote patients and 19.7% heterozygotepatients were effected with IVS 1.110 (G>A) mutation.Conclusion: The consanguinity marriages are very abundant particularly in our region due to fact that we are able tosee many autosomal recessive diseased in our region. Reducing incidence of autosomal recessive disease by givengenetic counseling could help the solution but it is still a major problem. J Clin Exp Invest 2016; 7(4): 265-268

Hemophilia A is an inherited, X-linked, recessive disorder caused by deficiency of clotting factor VIII. Central nervous system hemorrhage is an uncommon complication in patients with hemophilia. We report the case of a 5-year-old child who had intraspinal hematoma with nonsurgical, conservative management. It should be kept in mind that the optimal management is decided according to patient's condition because of high morbidity and mortality.

Visceral leishmaniasis is an infectious disease that infects and multiplies in macrophages of the liver, spleen, and bone marrow. The most common clinical features are fever, splenomegaly, and anemia. Anemia, leucopenia, and thrombocytopenia are the main hematologic abnormalities commonly seen in visceral leishmaniasis. These findings can be seen in several types of hematologic disorders. The findings are similar to most hematologic disorders and so may make diagnosis problematic. It is difficult to confirm when it is seen except in epidemiologic areas. It can be fatal if it is not treated and appropriate treatment can be lifesaving. In this article a 12 year-old male patient who was followed-up with diagnosis of acute lymphoblastic leukemia and received maintenance therapy while being under remission after BFM-ALL-2000 treatment protocol and diagnosed with hemophagocytic lymphohistiocytosis due to Kala-azar during this period was presented.

Intrathecal chemotherapy and systemic chemotherapy are used for both prophylaxis and treatment of central nervous system disease in hematologic malignancies. We presented two children with urinary retention due to neurotoxicity with two distinct drugs and reasons. The main presenting complaints were urinary retention and incontinence in both patients. Before the adverse clinical event, the patients had received vincristine intravenously and triple therapy with hydrocortisone, cytosine arabinoside, and methotrexate intrathecally. The clinical event resolved, and vincristine and intrathecal chemotherapy were deleted from the patients subsequent therapy until recovery was achieved.

The aim of this study was to evaluate the effectiveness of different drug combinations for treatment of brucellosis in children. Sixty children (mean age 9.2 ± 3.1 years, range 10 months to 15 years) were treated with four different drug combinations. The diagnosis of brucellosis was established by positive serum agglutination titer, and/or the isolation of Brucella species from blood cultures. The most frequent findings were fever and arthritis in 12 (20%) and 13 (21.6%) patients respectively. The children under 8 years old comprised Group 1 and 2, and older than 8 years comprised Group 3 and 4 according to treatment regimens. Nine patients (Group 1) were treated with trimethoprim-sulfamethoxazole (TMP-SMZ) for 45 days plus ceftriaxone for 5 days and, rest nine patients (Group 2) were managed with TMP-SMZ for 45 days plus gentamicin for 5 days. Twenty-one patients (Group 3) were managed with doxycycline for 45 days and ceftriaxone for 5 days and, other 21 (Group 4) patients were managed with doxycycline for 45 days and gentamicin for 5 days. All patients recovered. Relapse and improvement rates were similar for all groups ( P> 0.05). Each regimen was effective in the treatment of childhood brucellosis. Using cheaper drugs such as doxycycline and gentamicin in children 8 years of age and older, and TMP-SMZ and gentamicin in children 7 years of age or younger for the treatment of brucellosis in children is a practical and useful approach in our region and in the developing countries.

Varicella remains a dangerous viral pathogen for pediatric cancer patients. The incidence of primary varicella infection in Eastern of Turkiye is still high because of low vaccination rate. Medical records of 27 pediatric patients with hematological malignancies that developed varicella/herpes zoster were retrospectively reviewed. All were treated at a single medical center in Eastern Turkiye between 1997 and 2006. Varicella (n = 22) or herpes zoster (n = 5) were diagnosed in 27 cases, of whom 14 had acute lymphoblastic leukemia (ALL), five had acute myeloblastic leukemia (AML), and eight had non-Hodgkin lymphoma (NHL). The mean age of the children was 5.7 ± 3.2 years. None of these children had evidence of disseminated disease. The mean total leukocyte count was 2600 ± 1500/mm3 in ALL group, 2300 ± 1800/mm3 in AML group, and 3100 ± 1700/mm3 in NHL group. While intravenous acyclovir was administered to 21 patients, remaining six patients were received oral acyclovir. Fever was reduced in mean 5.6 ± 2.1, 5.2 ± 1.7 and 4.4 ± 1.8 days in ALL, AML, and NHL groups, respectively. None of the 27 children worsened or developed features of visceral dissemination. Outcome of the patients were not different in terms of oral and intravenous acyclovir use. These results suggest that in our institution varicella is not associated with a high incidence of mortality in cancer patients. Early administration of acyclovir can prevent the visceral dissemination of varicella-zoster virus. Prednisolone usage during the incubation period of varicella did not result in increased severe varicella infection.

Congenital factor (VII) deficiency is a rare bleeding disorder. We present a patient with congenital FVII deficiency and congenital hydrocephalus who underwent a ventriculoperitoneal shunt operation and needed no prophylaxis after the procedure.

Immune thrombocytopenic purpura (ITP) is a commonly acquired autoimmune bleeding disorder in children. MicroRNAs (miRNAs) are small RNAs which are found in cells and circulation, and play a role in protein synthesis and regulation. In this study, we aimed to determine a biomarker for childhood ITP comparing the plasma miRNA levels of children having ITP with healthy children. A total of 86 patients with ITP and 56 healthy children followed up by the Department of Pediatric Hematology and Oncology in University of Gaziantep since July 2011 were enrolled in the study. The 86 patients with ITP were evaluated in two groups as 43 acute ITP (aITP) and 43 chronic ITP (cITP) patients. Plasma expression levels of 379 miRNAs were investigated by RT-PCR (quantitative RT-PCR) technique and they were compared between aITP, cITP, and control groups. For all miRNAs, the average of raw quantification cycle values of three groups separately in the analysis chip was accepted as the reference gene value, and normalization was done according to this value. Statistically significant differences were detected in seven miRNAs (miR-302c-3p, miR-483-5p, miR-410, miR-544a, miR-302a-3p, miR-223-3p, and miR-597) investigated between the groups with respect to the expression levels. The expression rates were found to be over 95% in miR-302c-3p and miR-483-5p, over 75% in miR-410, and over 40% in miR-544, miR-302a-3p, and miR-223-3p in all three groups. The detection of significant differences between plasma miRNA levels of aITP and cITP patients and healthy children may provide useful information in the prediction of the course of disease, determination of disease etiopathogenesis, and the development of new therapeutic modalities.

Autoimmune polyglandular syndrome (APS) is a disorder which is associated with multiple endocrine gland insufficiency and also with non-endocrine manifestations. The pathophysiology of APS is poorly understood, but the hallmark evidence of APS is development of autoantibodies against multiple endocrine and non-endocrine organs. These autoantibodies are responsible for the dysfunction of the affected organs and sometimes may also cause non-endocrine organ dysfunction. The hemolytic-uremic syndrome (HUS) is a serious and life-threatening disease which develops due to many etiological factors including autoimmune disorders. Here, we present an unusual case of APS. Ectodermal dysplasia with immune deficiency and HUS occurred concomitantly in the same patient with APS type 3c. Once the autoantibody generation was initiated in the human body, development of multiple disorders due to organ dysfunction and also autoantibody-related diseases may have occurred.

58th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH) -- DEC 03-06, 2016 -- San Diego, CA, WOS: 000394452701110, Amer Soc Hematol, TUBITAKTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK), Yilmaz Karapinar: TUBITAK: Research Funding.

Even the life span has prolonged for the last 40 years, increase in frequently seen complications with increasing age negatively affect the life quality of thalassemia patients. In our study, complications encountered in 67 s-thalassemia patients who were followedup at our hospital between 1 January 2004 and 31 May 2009 were retrospectively analyzed. Fifty-six patients were followed up with diagnosis of thalassemia major and 11 with thalassemia intermedia. Totally, 56.7% of patients were male and 43.3% were female. Ages varied between 2-20 years with the mean age of 10.3±4.8 years. Mean ferritin level was 2212±1370 ng/mL (41-6263 ng/mL) for 4.5 years. Complications were increased with increasing age. Complication rates were significantly higher among thalassemia major patients compared to thalassemia intermedia patients. There was no statistically significant relationship between complications and mean ferritin levels. The most common complications were endocrine complications (38.8%). Cardiac complications developed in 22.4% of the patients; gastroenterological complications in 19.4%; allergic complications in 9%; infectious complications in 1.5%; and thrombosis was detected in 1.5%. The endocrine complications were osteoporosis, growth retardation, developmental delay, short stature, hypothyroidism, delayed puberty, hypogonadism, and diabetes mellitus. The cardiac complications were left ventricular wall hypertrophy, diastolic dysfunction, systolic dysfunction, heart failure, pericardial effusion, dilated cardiomyopathy, left ventricular dilatation, left atrial dilatation, and fatal arrhythmias. Mortality occurred in one (1.5%) out of 67 s-thalassemia patient due to dilated cardiomyopathy and fatal arrhythmia.

Background and objective: To determine the prevalence and the clinical significance of thyroid autoantibodies and their influence on treatment response in children with idiopathic thrombocytopenic purpura (ITP). Patient and Method: We retrospectively analyzed the antithyroglobulin (anti-TG) and antithyroid peroxidase (anti-TPO) antibodies from the records of 151 ITP patients who were admitted to the Pediatric Hematology Department of Gaziantep University between 2009 and 2012. Results: Anti-TPO and/or anti-TG was found positive in 38 (36.8%) of 103 patients whose thyroid autoantibody levels were measured. The comparison of positivity ratios of autoantibodies between acute and chronic ITP patients showed no significant difference. However, the separate comparison of each group of ITP patients with control group showed significantly high positivity ratios of autoantibodies in ITP patients. The initial mean platelet count of anti-TPO positive patients at diagnosis was significantly less than that of the negative patients (P = .008). One month after treatment, platelet count of anti-TPO positive patients was significantly less than that of the negative patients (P = .01). Moreover, the mean platelet counts of anti-TPO positive patients were significantly less than those of the negative patients after intravenous immunoglobulin treatment (P < .001). Conclusion: We demonstrated that the thyroid-autoimmune-diseasesrelated autoantibodies are frequently found in childhood ITP. Although no recommendation is found in international guidelines regarding screening for thyroid autoantibodies in patients with ITP, in view of the high incidence of antithyroid antibodies and their potential negative effect on treatment response, screening these patients for such antibodies would be recommended.

Despite the use of new broad-spectrum anti-bacterial and anti-fungal agents, infections still represent the major cause of morbidity and mortality in patients with prolonged neutropenia after intensive chemotherapy. The aim of this study is to assess the effect and safety of granulocyte transfusions (GTs) for the treatment of severe life-threatening infections in pediatric patients with febrile neutropenia. In this study, 13 pediatric patients with high-risk febrile neutropenia, who received 24 GTs, were included. GTs were well tolerated in all patients. Upon 24 h post-transfusion, neutrophil and platelet counts increased significantly, when compared to the baseline values. The clinical response and hematologic response rates were 69.2 % respectively. In conclusion, GT is safe and effective in controlling life-threatening infections. Furthermore, randomized controlled studies with long-term follow-up are needed to assess the exact role of GT in the outcome of patients with neutropenia.

Background The etiology of common idiopathic epileptic syndromes can be genetically determined in some cases. The existence of inward-rectifying potassium channels (Kir) was first recognized half a century ago and several candidate genes, one of which, KCNJ1O, exhibits a potentially important polymorphism with regard to fundamental aspects of seizure susceptibility. Objective The aim of this study was to determine the frequency of KCNJ10 potassium ion channel single nucleotide polymorphism in Turkish pediatric patients with idiopathic generalized epilepsy. Methods In this study, we examined 233 pediatric patients with idiopathic generalized epilepsy (IGE) and 174 healthy control groups. We studied to identify an allelic association of a common missense variation (Arginine271Cysteine) in the KCNJ1O gene in Turkish pediatric patients with IGE. Results Our data did not show any statistical significance of missense variation in patients with IGE. In this study, we did not find any allelic association of a common missense variation (Arginine271Cysteine) in the KCNJ1O gene in pediatric patients with idiopathic generalized epilepsy. Conclusion This study suggests that the missense variation Arg27ICys at the human KCNJ10 locus can influence risk for acquiring common forms of human epilepsy. But there may be differences in K allele frequencies from population to population in different parts of the world. Heterogeneity can exist in the population of different geographic locations or countries such as our patient population from Turkey.

A few cases with bilateral renal enlargement in acute lymphoblastic leukemia were reported in literature. In this article, we reported an unusual case of a child with precursor B-ALL presenting with massively enlarged bilateral unobstructed kidneys and acute renal failure. Renal involvement of ALL should be taken into consideration in case with massively enlarged bilateral kidneys in radiological examination. Based on radiological, clinical and laboratory findings including bone marrow aspirate examination, the patient could be diagnosed as ALL without renal biopsy.

Introduction We evaluated chest X-ray and clinical findings of patients with lower respiratory tract infection due to influenza H5N1 and presented the radiological findings and clinical course of the infection. Materials and methods Between December 2005 and February 2006, eight hospitalized patients (median age 10, 5–15 years) with avian-flu were evaluated in this study. All patients were evaluated with chest X-ray and four of them with CT scan. Post mortem pathological characterization were also available for three of the patients. Results A rapidly progressive pneumonia with high mortality rate was observed especially for cases with late admission. The major radiologic abnormalities were extensive pneumonic infiltration with segmental and multifocal distribution, mostly located in lower zones of the lung. No pleural effusion and hilar lymphadenopathy was noted. Conclusion Avian flu may be presented as rapidly progressive pneumonia. The chest radiography has an important role in diagnosis and should be obtained daily because of rapid change of the findings that may necessitate prompt action.

Albayrak, Meryem/0000-0003-2711-5150 WOS: 000358289900002 PubMed: 25901543 Objectives: Hemophagocytic lymphohistiocytosis is a syndrome of pathologic immune activation that shares similar clinical and laboratory phenotypes with severe sepsis. Recent studies led to better recognition of hemophagocytic lymphohistiocytosis by clinicians, but no consensus exists on the criteria for high-risk patients. Design: We retrospectively reviewed the medical records of patients diagnosed with hemophagocytic lymphohistiocytosis to analyze the risk factors associated with poor outcome. Setting: Pediatric intensive care and hematology units of three tertiary hospitals in Turkey. Participants: Fifty-two children with hemophagocytic lymphohistiocytosis. Interventions: None. Measurement and Main Results: There were a total of 52 children meeting the diagnostic criteria of Histiocytic Society. Of them, 28 (54%) had a primary hemophagocytic lymphohistiocytosis. Mutation studies were performed in 18 of 28 patients (65%). Fourteen of them had PRF1, STX11, STXBP2, and UNC13D mutations, and four had Rab27a and LYST mutations. The remaining 24 patients (46%) were defined as having secondary hemophagocytic lymphohistiocytosis. Twenty-one of them had infection-associated hemophagocytic lymphohistiocytosis, and three had lysinuric protein intolerance. The mortality rate was significantly higher in primary hemophagocytic lymphohistiocytosis (64%) than in secondary hemophagocytic lymphohistiocytosis (16%) (p < 0.05). There were no significant differences for survival rate between hemophagocytic lymphohistiocytosis 94 (44%) and hemophagocytic lymphohistiocytosis 2004 (64%) protocols (p > 0.05). Age below 2 years, hyperferritinemia, thrombocytopenia, high disseminated intravascular coagulation score at diagnosis, and no clinical response at 2 weeks of treatment were independent prognostic factors for poor prognosis. Conclusions: Our data suggest that disseminated intravascular coagulation score greater than or equal to 5 can be used in the definition of high-risk patients. Early recognition of poor risk factors has important prognostic and therapeutic implications.

Infantile hypertrophic pyloric stenosis (IHPS) is a condition affecting young infants, in which the antropyloric portion of the stomach becomes abnormally thickened and manifests as obstruction to gastric emptying. The clinical diagnosis hinges on palpation of the thickened pylorus, or 'olive.' Abdominal palpation is accurate but not always successful, in such cases, radiologic examinations including US or MRI can be performed. US is the first choice of imaging modality. Unfortunately, in case of difficulty by the sonographic diagnosis of IHPS such as overlying bowel gas, MRI could be useful for the diagnosis.

Hemophagocytic lymphohistiocytosis (HLH) is a rare disease resulting from abnormal proliferation of histiocytes in tissues and organs. The incidence of HLH is 1:50,000-300,000. Cutaneous eruptions have been reported in 6-65% of the cases. It's important to differentiate the eruptions from other systemic diseases. We present an infant with prominent skin manifestations of HLH. On the 11th day of life, she was admitted to our hospital with complaint of a generalized rash that had started the previous day. The eruptions consisted of irregularly shaped maculopapular erythematous rash and purpura. Bone marrow aspiration on the 25th day of life revealed hemophagocytosis with increased macrophages and histiocytes, consistent with HLH. Treatment was started with dexamethasone followed by induction chemotherapy with etoposide. All skin manifestations resolved in a few days. Although the clinical features are nonspecific, HLH should be kept in mind as an accompanying disease in neonates presenting with skin eruptions.

The incidence of hematological malignancies during pregnancy is low, and treatment in this setting is problematic. This study observed 21 pregnancies in 18 patients with hematological malignancies. Patients' ages were between 19 and 43 (median 25) years. Two pregnancies ended with spontaneous abortion, one pregnancy ended with in utero death, three therapeutic abortions were carried out, and 15 infants were born alive but three of them died later. The median birth weight was 2.47 kg. Twelve babies survived to a median age of 36 (range 4-117) months. Eight babies were exposed to chemotherapy during the in utero period. One baby was exposed to chemotherapy during all the trimesters and was born prematurely and later died because of intracranial bleeding. Four babies were exposed to chemotherapy during the first trimester, one of them had low birth weight and floating thumb malformation, two of them had only low birth weight, and one was born healthy, but died at 3 months of age as a result of severe gastroenteritis. Two babies were exposed to chemotherapy during the second and third trimesters; one of them had low birth weight, and the other pregnancy ended in in utero death. One infant was exposed to chemotherapy during the third trimester and was born at term, but died because of pulmonary hemorrhage. We concluded that chemotherapy during all trimesters of pregnancy carries a significant risk for an unfavorable outcome.

The purposes of this study were to determine the frequency of vitamin K deficiency and to assess its effects on bleeding in patients with acute and intractable diarrhea. A total of 90 children with diarrhea and 30 healthy children (group Q were included in this study. Patients were divided into 2 groups, according to the duration of diarrhea. Complete blood count; prothrombin time (PT); activated prothrombin time (APTT); Factors ii, VII, IX, and X; and protein C levels were studied in all patients. A total of 3 mg of vitamin K was administrated to patients with prolonged PT and/or APTT. Coagulation parameters were restudied 8 to 12 h after vitamin K was administered. Mean age, sex, weight, and breastfeeding percentage, as well as history of fever and vitamin K administration at birth, were similar in the 2 groups. The duration of antibiotic administration in group B (intractable diarrhea) was significantly longer than that in group A (acute diarrhea). Gastrointestinal (GI) bleeding was observed in 3 (4.9%) infants in group A and 6 (20.7%) in group B (P

Autoimmune thrombocytopenic purpura (ITP) is a disease that presents with skin and mucous membrane bleeding due to thrombocytopenia. In the literature, there are a few studies about the effect of high-dose steroid therapy on coagulation tests in different diseases, but their results are still controversial. In this study, coagulation parameters were investigated that might have a role in hemostatic compensation in childhood acute ITP before and after high-dose methylprednisolone (HDMP) treatment. The study includes 21 children age 1.5 to 14 years with acute ITP and 21 healthy age-matched control subjects. All patients with acute ITP received HDMP for 7 days. Before and after HDMP treatment (0 and 8 days) prothrombin time, partial thromboplastin time, fibrinogen, Protein C, Protein S, antithrombin III, and the levels of factor II (FII), FV, FVII, FVIII, FIX, FX, FXI, and FXII were studied in all subjects. The results were compared with those of the control group. Pre-treatment Protein C and Protein S levels in the patient group were significantly lower than those in the control groups (p

Stevens-Johnson syndrome (SJS) is defined as a severe erythema-multiforme-like eruption of the skin and lesions of the oral, genital and anal mucosa and hemorrhagic crusting on the lips; it is associated with fever, headache, and arthralgia. The disease is a part of a continuum of immunologically mediated mucocutaneous diseases at various grades of severity. SJS is often induced by drugs, but the pathophysiologic mechanism is completely unknown. Patients and their first degree-relatives may have genetic defects in their metabolic pathways that lead to the accumulation of toxic metabolites. However, viral infections are known triggers of this skin disorder. Varicella zoster virus has been only very rarely reported as an etiological agent in SJS, despite its high incidence as a pathogen in childhood. In this study, we report a case of primary varicella infection associated with SJS because of its rare presentation. To the best of our knowledge, our case is the youngest child in the literature.

Factor XIII deficiency is a very rare bleeding disorder. We report here on the clinical outcome of a young child with intracranial bleeding due to factor XIII deficiency. Clinicians should bear in mind that severe factor XIII deficiency is associated with a significant risk of unexpected intracranial hemorrhage (ICH).

Purpose: To evaluate the effectiveness of percutaneous treatment under sonographic guidance in abdominal hydatid cysts. Material and Methods: Fifty‐two hydatid cysts in 33 patients were treated using a percutaneous approach under sonographic guidance. Forty‐five cysts were located in the liver, 6 in the spleen, and 1 in the pancreas. Forty‐nine cysts were type I, and 3 were type II. Thirty‐one cysts in 15 patients were treated with puncture and aspiration of the contents, injection of hypertonic saline solution, and respiration (PAIR); 15 cysts in 14 patients were treated with puncture, aspiration of cyst contents, injection of hypertonic saline solution, drainage, and injection of sclerosing agent (PAIDS); and 6 cysts in 4 patients were treated with puncture, aspiration of cyst contents, injection of sclerosing agent, and re‐aspiration (mPAIDS). Hypertonic saline or alcohol was used as a scolicidal agent. The follow‐up period was between 17 and 53 months. Results: A decrease in the dimensions of the cysts, solidification of the contents, and irregularity in the walls of cysts, all of which were considered signs of cure, were found in all patients. Recurrence was observed in one case and anaphylaxis in one. Conclusion: Percutaneous treatment of abdominal hydatid cysts is a safe, easily applicable, well‐tolerated, and effective method.

Liver cirrhosis is a severe disease with complications and viruses take the first place in the etiology of cirrhosis. In this study, the effects of liver cirrhosis due to viral hepatitis cardiac ventricular functions were analyzed. Thirty patients (mean age 43.6±12, 20 male) with liver cirrhosis underwent echocardiographic studies and were compared with 30 healthy controls (mean age 37.3±2, 22 male). Right and left atrium and right ventricle dimensions, interventricular septum, right ventricle free wall thickness, pulmonary artery diameter and assumed mean pulmonary artery pressure measured with 2-dimensional echocardiography were significantly increased in the patient group. In Doppler echocardiographic studies, right ventricle diastolic functions were significantly impaired in the patient group. There were no significant differences in left ventricle systolic and diastolic functions between the groups. In conclusion, liver cirrhosis causes dilatation in right heart spaces and diastolic dysfunction.

Cerebral hematoma described as the bleeding into the cerebrum leads to an expanding mass of blood that damages surrounding neural tissues. It is a very rare clinical finding of congenital hypofibrinogenemia. In this case study we are reporting a 5-year old boy with massive epidural hematoma and recurrent cephalohematoma as a result of minor trauma.

Deficiency of vitamin B12 (VitB12), also known as cobalamin, and Helicobacter pylori infection are commonly seen in our region. Inadequate dietary intake of VitB12, lack of intrinsic factor (IF) se...

Beta (β)-thalassemia is the most frequently observed hereditary blood disorder in the world. It is characterized by deficiency of hemoglobin β-globin gene and is also a profoundly heterogeneous both at the molecular and clinical level. In the case of β-thalassemia, there is reduced (β+ type) or absent (βo type) synthesis of the beta chains of hemoglobin. β-Thalassemia clinically occurs in three main forms: major, intermedia and minor according to requirement of transfusion. The objective of this study was to evaluate β-thalassemia mutations in 89 patients ranging from 2 months to 16 years of age, who enrolled to Medical School Research and Training Hospital, Gaziantep University. The direct DNA sequence analysis was performed for mutation scanning of β-globin gene. 89 children with β-Thalassemia including all types were analyzed, 16 different β-thalassemia mutations were detected. We have also identified a novel mutation (HBB.c.-80delT, rs397509430) in the promoter region (−30 TATA box) of β-globin gene, and clinical data of patient having novel mutation was given. The β-Thalassemia mutations were determined as β-Thalassemia major type in 42 patients (47.19 %), β-Thalassemia intermedia in 4 (4.49 %), β-Thalassemia minor in 43, (48.31 %) patients. The most frequent mutation was IVS I-110 G>A, followed by IVS I-1 G>A, IVS I-6 T>C, IVS II-1 G>A, respectively.

We present two patients with brucellosis concomitant with acute leukemia. Co-existence of acute leukemia with brucellosis which may have similar symptoms, have not been reported earlier. The first case presented with generalized arthralgia, fever, paleness, and pancytopenia. The second patient had mild leucopenia and thrombocytopenia. She presented with fever. We carried out the chemotherapy for both ALL and brucellosis simultaneously. While the first patient's fever disappeared within 3 days, the second patient's fever had continued on subfebril level for five days and then disappeared. We achieved the remission in both patients and no reactivation was observed during the follow-up period.

Infantile Hemangioendothelioma (IHE) is a rare vascular tumor with predominant involvement of soft tissues of extremities. The occurrence in the head and neck region is extremly rare. We report a four-month-old female with IHE in her lower lip. The clinical and histologic photographs depict the findings. The diagnosis and treatment of IHE are discussed.

Background: Hemophagocytic lymphohistiocytosis (HLH) is a life threatening hyper inflammatory disease. Micro RNAs (miRNA) are about 22 nucleotide-long, small RNAs encoded with genes, and they have regulatory functions in immune response. Objective: To determine the miRNA expression levels of 11 secondary HLH patients, we evaluated the associations of miRNA levels with pathogenesis, clinical presentation, and prognosis of the disease. Patients and Methods: Patients who were diagnosed with secondary HLH from January 2011 to December 2012 were included in this study. We profiled the expressions of 379 miRNAs in plasma of both HLH patients and healthy controls. Patients were evaluated regarding with age, clinical findings, miRNA expresions, laboratory data, treatment, and prognosis, by using descriptive statistics. Results: A total of 11 secondary HLH patients and 11 healthy children were included in this study. miR-205-5p was expressed in all case and controls and expression level of miR-205-5p was found 6.21 fold higher than control group (p=0.01). We detected the second highest expression percent in miR-194-5p with 81% of cases and controls. Expression level of miR-194-5p was found to have 163 fold higher than controls (p= 0.009). miR-30c-5p showed 77% expression percent in cases and controls together. The expression level of this miRNA was detected 9 fold decreased in HLH patients compared to healthy children (p= 0.031). Conclusion: We showed that miR-205-5p, miR-194-5p and miR-30c-5p could be useful plasma biomarkers for HLH. Further research is needed in larger and homogenous study groups, especially for these miRNAs as biomarkers for HLH.

We report a case of a 3-month-old Turkish girl who had clinical and laboratory features of Glanzmann's thrombasthenia associated with asymmetric crying facies (ACF). Although ACF is a minor anomaly, it should not be forgotten that it can be accompanied by major congenital anomalies and if this finding is detected, other anomalies should be investigated.

Hepcidin, a key regulator of iron homeostasis, increases when inflammation and some infections occur. It plays a critical role in macrophage iron retention, which underlies inflammation/infection caused anemia. It is known that Helicobacter pylori (HP) may lead to iron deficiency (ID) due to occult blood loss or reduced iron absorption. This study investigates the role of prohepcidin, hepcidin's precursor, in ID and ID anemia (IDA) with a concurrent HP infection.In this prospectively designed study, 15 patients with IDA and a concurrent HP infection (group 1), 11 patients with an ID and a concurrent HP infection (group 2), and 18 patients with HP infection (group 3) were observed. All groups received only HP eradication therapy. Twenty-five age- and sex-matched children without ID/IDA and HP infection were included in the study as the control group. In all groups and control group, measurements were taken for pre- and posttreatment hemoglobin, serum prohepcidin, serum ferritin, serum iron (SI), transferrin saturation, erythrocyte sedimentation rate, fibrinogen, and C-reactive protein levels.The pretreatment prohepcidin levels were significantly higher only in group 1 compared to the control group (P.05). In group 1, a significant increase in hemoglobin and SI levels and a significant reduction in prohepcidin levels were additionally observed following HP eradication treatment (P.05). However, in groups 2 and 3, significant differences in hemoglobin, iron, and prohepcidin levels between pre- and posttreatment were not observed.Elevated serum prohepcidin might indicate the role of inflammation in the etiology of anemia concurrent with HP.

AIM Hypocalcaemia evaluation of the clinical, biochemical and radiologicalfeatures of 91 infants with rickets who presented as hypocalcaemic convulsions. SUBJECTS AND METHODS Ninety-one hypocalcaemic infants who were brought to hospital with convulsion and diag-nosed with rickets related to vitamin D deficiency according to their clinical, biochemical and radio-logicalfeatures were retrospectively reviewed. RESULTS Mean values of the laboratory data were as follows: calcium 5.55 +/- 0.79 mg/dL, phosphorus 4.77 +/- 1.66 mg/dL, alkaline phosphatase 1525.5 +/- 925.4 U/L and parathormone 256.8 +/- 158.3 pg/mL. Serum 25-OH vitamin D levels were below normal (< 20 ng/mL) in 37 infants. CONCLUSION Vitamin D deficiency should be considered in infants presenting with hypocalcaemia. To avoid complications such as convulsions, clinicians should give vitamin D supplementation to such infants.

Infantile hemangioendothelioma is a rare benign hepatic tumor arising from mesenchymal tissue. Most of the cases present with congestive heart failure and asymptomatic abdominal mass were before 6 months of age. We described a patient with projectile vomiting, which is quite an unusual presentation. Following surgical resection, neither recurrence nor symptoms were seen in 2 years of follow-up.

Objective: Cardiac failure due to iron overload remains the most common cause of death in patients with beta-thalassemia major. This study aimed to evaluate myocardial function in children with beta-thalassemia major using standard echocardiography technique and strain rate imaging. Materials and Methods: Conventional echocardiographic analysis, tissue velocity imaging, and strain/strain rate imaging of the left ventricle were evaluated in 48 children with beta-thalassemia major (19 girls, 29 boys; 8.39±4.05 years) and 22 healthy children (11 girls, 11 boys; 8±3.72 years). Results: Conventional echocardiographic examinations revealed that beta-thalassemia patients had larger left ventricular end-systolic diameter, end-diastolic and end-systolic volume, left ventricular mass index, and mitral early/late diastolic flow velocity ratio (p

Ankaferd blood stopper (ABS) is a hemostatic agent used topically for controlling bleedings of skin or mucosal surfaces in Turkey. It is currently topically used in bleedings of body injuries, traumas, and minor or major surgical interventions. Here we have evaluated 12 pediatric patients with hemorrhagic diathesis on whom Ankaferd was used for oral bleedings. Topical Ankaferd was administered for hemorrhages of oral cavity during 15 bleeding attacks. ABS administrations successfully stopped the bleedings, except for one patient with oral hemorrhage who did not respond to ABS application. Ankaferd is effective for oral bleedings of children with bleeding diathesis especially when other measures have failed.

Although thrombocytopenia is a rarely observed complicationfollowing chickenpox, it can lead to serious bleedingproblems. In order to underline rare hematologiccomplications of varicella infection and the importanceof vaccination, here we reported a seven year old boywho developed severe thrombocytopenia duringvaricella infection and gave good response to intravenousimmunoglobulin therapy. J Clin Exp Invest 2011;2(1): 85-87

Ankaferd blood stopper (ABS) is a standardized medicinal plant extract that stimulates the formation of an encapsulated protein network that provides focal points for erythrocyte aggregation. It has a therapeutic potential to be used for the management of external hemorrhage. Here, the authors report an infant bleeding from peptic ulcer was stopped successfully by gastroscopic application of ABS and other cases that used topical ABS for mucosal bleedings are also presented.

Objective: To review our experience with typhlitis among children treated for acute leukemia. Material and Methods: The medical records of children with acute leukemia and typhlitis between 2006 and 2009 were reviewed for demographics and symptoms, and for microbiological and imaging findings. Results: In the 75 children with acute leukemia – 54 with acute lymphoblastic leukemia (ALL) and 21 with acute myeloid leukemia (AML) – there were 10 episodes of typhlitis (4.5%) that developed during 221 periods of severe neutropenia. The cumulative risk of typhlitis was 7.4% in patients with ALL and 28.5% in patients with AML. Frequent symptoms were: abdominal pain and tenderness (100% each); fever and nausea (90% each); emesis (80%); diarrhea (50%), and hypotension, peritonitis and abdominal distension (10% each). The median duration of symptoms was 6 days (range: 2–11 days), and that of neutropenia 14 days (range: 3–25 days). All patients were treated medically and none surgically. Two patients died because of typhlitis and sepsis. Conclusions: In our study, the rate of typhlitis among leukemic children was 4.5%; however, the mortality rate was 20%. Thus, rapid identification and timely, aggressive medical intervention are necessary to reduce the morbidity and mortality from typhlitis.

Thiamine-responsive megaloblastic anemia (TRMA) syndrome usually associated with diabetes mellitus, anemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein. The onset of disease is usually seen during infancy or at early childhood and most of the TRMA patients are originated from consanguineous families. In this case, we report a 5-month-old boy who had diagnosis of TRMA during evaluations for his anemia and thrombocytopenia. The diagnosis of TRMA should be kept in mind in differential diagnosis of megaloblastic anemia especially in the populations where the consanguinity is frequent.

PURPOSE This study was undertaken to investigate oxidant and antioxidant systems in patients with immune thrombocytopenic purpura (ITP). With this purpose, we measured the levels of serum malondialdehyde (MDA), total antioxidant capacity (TAC), total oxidant status (TOS), and other oxidative stress parameters. PATIENTS AND METHODS Fifty-two pediatric patients with ITP (25 acute, 27 chronic) and 21 healthy children were included in the study. Patients with acute ITP were studied, before and after, methylprednisolone treatment. RESULTS Hemoglobin, hematocrit, platelet count, and TAC were statistically significantly lower in patients with acute ITP before treatment than those in the control group (P