Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.

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.

Pediatric posterior reversible encephalopathy syndrome: Age related clinico-radiological profile and neurologic outcomes.

Background: The aim of this study was to analyze the characteristics of pediatric posterior reversible encephalopathy syndrome (PRES) to determine clinical and radiologic differences between younger and older age groups, and to identify risk factors for development of any neurologic sequelae.

Methods: The study cohort consisted of confirmed pediatric PRES patients in a tertiary care university hospital from January, 2015, to December, 2020. Demographic and clinical properties, radiological manifestations, and neurologic outcomes were noted.

A randomized, placebo-controlled, double-blind trial of canakinumab in children and young adults with sickle cell anemia.

Excessive intravascular release of lysed cellular contents from damaged red blood cells (RBCs) in patients with sickle cell anemia (SCA) can activate the inflammasome, a multiprotein oligomer promoting maturation and secretion of proinflammatory cytokines, including interleukin-1β (IL-1β). We hypothesized that IL-1β blockade by canakinumab in patients with SCA would reduce markers of inflammation and clinical disease activity. In this randomized, double-blind, multicenter phase 2a study, patients aged 8 to 20 years with SCA (HbSS or HbSβ0-thalassemia), history of acute pain episodes, and elevated high-sensitivity C-reactive protein >1.

Comparison of the clinical course of COVID-19 infection in sickle cell disease patients with healthcare professionals.

It is highly expected that COVID-19 infection will have devastating consequences in sickle cell disease (SCD) patients due to endothelial activation and decreased tissue and organ reserve as a result of microvascular ischemia and continuous inflammation. In this study, we aimed to compare the clinical course of COVID-19 in adult SCD patients under the organ injury mitigation and clinical care improvement program (BASCARE) with healthcare professionals without significant comorbid conditions. The study was planned as a retrospective, multicenter and cross-sectional study.

Deep Vein Thrombosis After a Wild Bee Sting.

Allergic reactions from insect bites are mostly observed with bee stings. Bee sting reactions can be classified into 3 main headings: local, systemic, and rare reactions. Vascular thrombosis is considered both in rare and systemic reactions.

A Case With Wiskott-Aldrich Syndrome and Ascending Aorta Aneurysm.

Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency disorder that is characterized by a triad of microthrombocytopenia, severe immunodeficiency, and eczema. We report the case of a 7-year-old male patient with chronic thrombocytopenia that was diagnosed as WAS after dilatation of the ascending aorta was noticed. WAS is rare, and it is a disease that requires high suspicion for diagnosis.

Silent cerebral infarct in sickle cell anemia patients of southern Turkey.

Background/aim: Silent cerebral infarct (SCI) is an ischemic lesion seen before clinical signs of brain infarct and ischemic changes in brain tissue. This study aimed to detect SCI with noninvasive methods and to determine related risk factors in patients with sickle cell anemia (SCA).

Materials And Methods: Fifty-four SCA patients who had no history of cerebral infarct and whose neurological examinations were normal were included in this study.

Outcomes of Eltrombopag Treatment and Development of Iron Deficiency in Children with Immune Thrombocytopenia in Turkey.

Objective: Immune thrombocytopenia (ITP) is a rare autoimmune disease and hematologic disorder characterized by reduced platelet counts that can result in significant symptoms, such as bleeding, bruising, epistaxis, or petechiae. The thrombopoietin receptor agonist eltrombopag (EPAG) is a second-line agent used to treat chronic ITP purpura in adults and children.

Materials And Methods: The present retrospective study evaluated the efficacy, safety, and side effects of EPAG treatment in pediatric patients with acute refractory and chronic immune thrombocytopenia, particularly focusing on iron-deficiency anemia.

Transfusion-Associated Acute Lung Injury following Donor Granulocyte Transfusion in Two Pediatric Patients.

Transfusion-associated acute lung injury (TRALI) is one of the complications seen due to transfusion. Hypoxemia and bilateral pulmonary infiltration in posteroanterior chest roentgenogram is seen in all cases during transfusion or within the first 6 hours; fever, hypotension, and pink frothy bleeding from endotracheal tube may also be seen. It can be seen following the administration of any blood product.

A homozygote novel L451W mutation in CECR1 gene causes deficiency of adenosine deaminase 2 in a pediatric patient representing with chronic lymphoproliferation and cytopenia.

Deficiency of Adenosine Deaminase 2 (DADA2) is a monogenic autoinflammatory disorder characterized by livedo reticularis, skin ulcers, subcutaneous rash, aphthous ulcers, and leukocytoclastic vasculitis, neurological signs such as early onset stroke and polyneuropathy. A minority of DADA2 patients suffer from severe cytopenia and lymphoproliferation. Herein, we report an adolescent patient, followed up as having a hematological disorder for many years, eventually diagnosed as having DADA2.

Eltrombopag For Immune Thrombocytopenic Children in a Single Region.

Child patients of chronic thrombocytopenic purpura with severe and resistant thrombocytopenia were evaluated to observe whether their clinical or laboratory states improve by one of the thrombomimetic therapeutic agent called Eltrombopag as in adults in a single center of different country from previous studies. Nineteen patients with chronic immune thrombocytopenia were treated with Eltrombopag to dose in international guidelines. Approximately half (11/19:58%) of the patients benefitted from the treatment with Eltrombopag either by an increase of platelet levels at safe levels with a decrease in the frequency of bleedings which needed rescue treatment.

Successful Management of a Rare Cause of Hemolytic Uremic Syndrome With Eculizumab in a Child.

Background: Hemolytic uremic syndrome (HUS) is characterized by microangiopathic hemolytic anemia, acute renal failure, and thrombocytopenia. It very rarely coexists with acute lymphoblastic leukemia (ALL) emerging before, simultaneously, or after the diagnosis has been made, and management of the patient may be difficult.

Case: We present the case of a 7-year-old boy who was diagnosed with HUS and initially managed by hemodialysis (HD).

An Adolescent Case of Osteopetrosis with Portal Hypertension as well as Mandibula Osteomyelitis.

Osteopetrosis is a clinical syndrome characterized by the failure of osteoclasts to resorb bone. Excessive bone density can interfere with vital tissues and structures, causing serious problems of the body. Hematopoietic insufficiency, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment may develop in a patient with osteopetrosis.

Reactive hemophagocytic lymphohistiocytosis after hepatitis a infection.

Hemophagocytic lymphohistiocytosis (HLH) is a clinical condition which result in cytotoxic Tcell and antigen presenting cell overproduction and also their cytokines. Hepatitis A Virus associated HLH is very rare condition among other viruses. This condition is often difficult to diagnose, so treatment is often delayed.

An association of leishmaniasis and dyserythropoiesis in children.

Visceral leishmaniasis results in hematological problems such as cytopenias and coagulopathies. This disorder also has morphological effects on the bone marrow. Dyserythropoiesis is one of the most prominent seen with changes like multilobed nuclear cells and the appearance of bridges between nuclei and cytoplasms.

Detection of Left Ventricular Regional Function in Asymptomatic Children with beta-Thalassemia Major by Longitudinal Strain and Strain Rate Imaging.

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.

An infant with prolonged circumcision bleeding and unexplained coagulopathy.

Tyrosinemia type I is a rare autosomal recessive disorder. Fulminant onset of liver failure can occur in the first few months of life. Because all of the clotting factors are produced exclusively in the liver except factor VIII, coagulation abnormalities are very common in patients with severe liver disease.

Spontaneous acute cerebral hematoma in a child with factor XIII deficiency.

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).

Vascular endothelial growth factor levels in childhood acute lymphoblastic and myeloblastic leukemia.

Angiogenesis has been associated with the growth, dissemination and metastasis and has been shown to be a prognostic. Although there are some data suggesting that angiogenesis may have a role in the pathophysiology of leukemia, its role in patient prognosis is yet to be defined. We analyzed the expression level of vascular endothelial growth factor (VEGF), an angiogenesis promoter and its possible- prognostic value in bone marrow samples at the time of diagnosis and remission of acute childhood leukemia patients.

Prevalence and clinical significance of antithyroid antibodies in children with immune thrombocytopenic purpura.

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.

Silent cerebral infarct in child patients with beta thalassaemia intermedia.

There are numerous reports that patients with thalassemia are faced with hypercoagulability leading to vascular disorders. One of these complications is known as a silent infarct, defined as a small infarct detected by cerebral imaging but without any neurological symptoms. Since it has a progressive nature, it is of vital importance because it may lead to symptomatic cerebrovascular accidents in the future.

Topical Ankaferd hemostat application for the management of oral cavity bleedings in children with hemorrhagic diathesis.

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.

Hemophagocytic lymphohistiocytosis in 2 pediatric patients secondary to hepatitis A virus infection.

Hemophagocytic lymphohistiocytosis (HLH) is a rare clinical syndrome characterized by uncontrolled activation of cytotoxic T cells and antigen-presenting cells. Common clinical manifestations include high fever, maculopapular rash, neurological symptoms, coagulopathy, and abnormal liver function tests [1]. HLH can be either primary, that is, due to an underlying genetic defect, or secondary, associated with malignancies, autoimmune diseases, or infections.