Retrospective analysis of hemophilia B in Turkey: identifying main characteristics and treatment options.

Background: Hemophilia B (HB), an X-linked recessive inherited bleeding disorder, exhibits a high prevalence among males.

Objectives: To present the first national cohort of persons with HB to define the demographics, clinical characteristics, and treatment patterns in Turkey.

Methods: This multicenter, retrospective study included 433 alive persons with HB registered in 35 centers between 1961 and 2018.

Fecal elastase levels in children diagnosed with functional abdominal pain-not otherwise specified.

Background: Although the exact pathophysiology of functional gastrointestinal diseases remains unclear, numerous etiologies have been blamed, including visceral hypersensitivity, gastrointestinal motility disorders, psychological factors, intestinal mucosal inflammation, intestinal microbiota, and post-infectious syndromes. In the present study, we aimed to evaluate pancreatic insufficient patients diagnosed with functional abdominal pain-not otherwise specified (FAP-NOS) according to Rome IV criteria.

Methods: The study included a total of 110 patients aged 4-17 years who were diagnosed with FAP-NOS according to Rome IV criteria.

Static postural balance evaluation and an investigation of the relationship with joint health in children with severe haemophilia: a controlled cross-sectional study.

Introduction: Recurrent hemarthroses disturbing force/movement control are likely to impair postural balance.

Aim: To investigate the possible changes in static postural balance parameters in children with haemophilia (CwH) and to reveal its relationship with Haemophilia Joint Health Score (HJHS).

Methods: Twenty-one CwH aged 6-18 who had haemophilic arthropathy in at least one lower limb joint and 21 healthy peers were evaluated by using a force platform.

Muscle strength and joint health in children with hemophilia: a cross-sectional study.

Background And Objectives: We aimed to evaluate joint health in children with hemophilia (CwH) and to investigate the effects of hemarthrosis on the musculoskeletal system.

Method: Forty-one CwH aged between 6-18 years participated in the study. Joint health status was evaluated according to Hemophilia Joint Health Score (HJHS).

Identification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann's thrombasthenia living in Eastern Turkey.

Glanzmann's thrombasthenia (GT) is an autosomal recessive disorder in which the underlying problem is the lack or dysfunction of the GpIIb/IIIa receptor on the platelet surface. The present study determines the genetic mutation typology and analyzes the association between mutation types and clinical findings in patients diagnosed with GT who were followed up in Department of Pediatric Hematology of the Yüzüncü Yıl University School of Medicine. The medical charts of 17 patients who underwent therapy and that were followed up in the Department of Pediatric Hematology of the Yüzüncü Yıl University Dursun Odabaş Medical Center between January 2008 and April 2018 were reviewed retrospectively.

Evaluation of Renal Function Disorder With Urinary Neutrophil Gelatinase-associated Lipocalin Level in Patients With β-Thalassemia Major.

Background And Aim: Neutrophil gelatinase-associated lipocalin (NGAL) is found in the granules of human neutrophils, with many diverse functions. Expression of NGAL is induced under various pathophysiological conditions, for example, infection, inflammation, kidney injury, cardiovascular disease, burn injury, and intoxication, and it has an important antiapoptotic and anti-inflammatory role.

Patients And Methods: A total of 37 patients with thalassemia disease β-thalassemia major (24 male and 13 female individuals) and 37 healthy controls (17 male and 20 female) were enrolled in this study.

Typhoid Fever Accompanied With Hematopoetic Lymphohistiocytosis and Rhabdomyolysis in a Refugee Child.

Typhoid fever is an acute and systemic infectious disease that is specific to humans and is caused by Salmonella typhi. Patients may present with different findings ranging from simple fever to multiple organ failure. Hemophagocytosis and rhabdomyolysis are rare complications of typhoid fever.

Use of a High-Purity Factor X Concentrate in Turkish Subjects with Hereditary Factor X Deficiency: Post Hoc Cohort Subanalysis of a Phase 3 Study.

Hereditary factor X (FX) deficiency is a rare bleeding disorder more prevalent in countries with high rates of consanguineous marriage. In a prospective, open-label, multicenter phase 3 study, 25 IU/kg plasma-derived factor X (pdFX) was administered as on-demand treatment or short-term prophylaxis for 6 months to 2 years. In Turkish subjects (n=6), 60.

Initial Lymphocyte Count as Prognostic Indicator for Childhood Immune Thrombocytopenia.

Acute ITP is a benign, self-limiting disease. Chronic ITP is diagnosed when thrombocytopenia persists beyond 12 months. The main objective of the present study was to examine whether absolute lymphocyte counts at diagnosis has predictive value with chronic ITP.

Brucellar Aortitis and Meningoencephalitis in an Adolescent.

Brucellosis can affect any organ system and result in possible complications. We present an adolescent male who had brucellar aortitis and meningitis simultaneously. Brucellar aortic involvement is a rare complication of brucellosis and can occur without concomitant endocarditis.

Evaluation of the Hemostatic Disorders in Adolescent Girls with Menorrhagia: Experiences from a Tertiary Referral Hospital.

Bleeding disorders are a common cause of menorrhagia in the adolescent age group. We aimed to evaluate the incidence of hemostatic disorders, using clinical and laboratory findings of bleeding disorders in adolescent girls with menorrhagia. A retrospective chart review used to evaluate adolescent girls with menorrhagia who were referred to Yuzuncu Yil University Pediatric Hematology clinic between January 2010 and December 2014.

An analysis of children with brucellosis associated with haemophagocytic lymphohistiocytosis.

This retrospective study included seven paediatric cases aged from 4 to 14 (10.2±3.4) years with pathologically proved haemophagocytic lymphohistiocytosis from a single institution during 2009 and 2013.

Hematologic Findings in Children With Brucellosis: Experiences of 622 Patients in Eastern Turkey.

The aim of the present study was to present the hematologic findings of 622 cases diagnosed with acute brucellosis. Medical records of children with brucellosis, admitted to Yuzuncu Yil University Hospital over a 6-year period, were analyzed retrospectively. Three hundred ninety-seven (63.

Cutaneous side effects of doxycycline: a pediatric case series.

Objective: Brucellosis is highly endemic in Turkey and doxycycline is commonly used for its treatment. The present study aimed at documenting the cutaneous side effects of doxycycline in pediatric brucellosis patients in Turkey.

Materials And Methods: Pediatric patients with brucellosis that were treated between February 2014 and January 2016 were analyzed retrospectively, and those that developed doxycycline-related cutaneous side effects were identified.

Diagnostic evaluation of our patients with hemophilia A: 17-year experience.

Aim: Hemophilia A is a rare inherited bleeding disorder resulting from factor VIII deficiency and is a group of diseases characterized by intra-articular and intramuscular bleeding. In this study, we aimed to retrospectively evaluate the treatment outcomes, demographic and clinical characteristics of our patients who were treated and followed up for last 17 years in our pediatric hematology unit with a diagnosis of Hemophilia A.

Material And Methods: The medical records of 83 patients who were diagnosed with Hemophilia A and followed up between 1997 and 2014 in our hospital's pediatric hematology clinic were reviewed retrospectively.

Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency.

Introduction: Congenital factor X (FX) deficiency is a rare bleeding disorder inherited as an autosomal recessive trait with an incidence of 1 : 500 000-1 000 000. A total or partial deficiency of FX causes an impairment of clot formation, leading to a haemorrhagic disease, which manifests with bleeding symptoms of different severity, also unprovoked.

Aim: We analysed the clinical manifestations, laboratory phenotype and genotype in 12 patients from Turkey affected with severe FX deficiency.

Recognizing true H5N1 infections in humans during confirmed outbreaks.

Introduction: The goal of this study was to evaluate whether any characteristics that are evident at presentation for urgent medical attention could be used to differentiate cases of H5N1 in the absence of viral testing.

Methodology: Information about exposure to poultry, clinical signs and symptoms, treatments, and outcomes was abstracted from existing data in the global avian influenza registry (www.avianfluregistry.

Distribution of Streptococcus pneumoniae serotypes that cause parapneumonic empyema in Turkey.

Streptococcus pneumoniae is the most common etiological cause of complicated pneumonia, including empyema. In this study, we investigated the serotypes of S. pneumoniae that cause empyema in children.

Nasolacrimal system obstruction, ptosis and esotropia due to chemotherapy in acute lymphoblastic leukemia.

Eight-year-old girl was admitted to our clinic with the complaint of constant epiphora in the right eye. It was reported that this complaint began after the start of chemotherapy with a diagnosis of Acute Lymphoblastic Leukemia (ALL) about 5 years ago. In addition, eyelid ptosis associated with esotropia also occurred during that period.

Analysis of Chromosomal Aberrations and FLT3 gene Mutations in Childhood Acute Myelogenous Leukemia Patients.

Objective: To identify the well-known common translocations and FLT3 mutations in childhood acute myelogenousleukemia (AML) patients in Turkey.

Material And Methods: The study included 50 newly diagnosed patients in which t(15;17), t(8;21), and inv(16)chromosomal translocations were identified using real-time PCR and FLT3 gene mutations were identified via direct PCR amplification PCR-RE analysis.

Results: In all, t(15;17) chromosomal aberrations were observed in 4 patients (8.

Determinants of antiviral effectiveness in influenza virus A subtype H5N1.

Background: Oseltamivir is widely used as treatment for influenza virus A subtype H5N1 (hereafter, "H5N1") infection but, like any intervention, is not always effective.

Methods: We used Avian Influenza Registry data from 10 countries to examine the risk of death in 215 patients with confirmed H5N1 infection who were treated with oseltamivir, according to viral clade, age, respiratory failure, and adjunctive treatment with corticosteroids or antibiotics.

Results: The median age of infected individuals was 18 years, and 50% were male.

H5N1 avian influenza in children.

Background: Avian influenza continues to pose a threat to humans and maintains the potential for greater transmissibility. Understanding the clinical presentation and prognosis in children will help guide effective diagnosis and treatment.

Methods: A global patient registry was created to enable systematic collection of clinical, exposure, treatment, and outcomes data on confirmed cases of H5N1.