Response to the letter "Reassessing the hypothesis of essential tremor as a prodromal feature of Parkinson's disease".

There is growing body of evidence that some patients with essential tremor (ET) have an increased risk for developing Parkinson's disease (PD) and, therefore, as noted in our paper, ET may be considered a prodromal feature of PD. Although a genetic causal link between ET and PD has not been established, future development of diagnostic and progression biomarkers may provide insight into the relationship between these common movement disorders.

Inhibitor development upon switching from plasma-derived to recombinant factor VIII in previously untreated patients with severe hemophilia A: the PUP-SWITCH study.

Background: The SIPPET randomized clinical trial showed that in previously untreated patients (PUPs) with severe hemophilia A, treatment with plasma-derived factor (F)VIII (pdFVIII) within the first 50 exposure days (EDs) was associated with a lower cumulative incidence of inhibitors than with recombinant FVIII (rFVIII). Switching to rFVIII beyond 50 EDs with pdFVIII is a treatment often implemented by many centers. The question is whether or not this switch may induce a risk of inhibitor development.

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.

Leg stereotypy syndrome: phenomenological and quantitative analysis.

Background: Leg stereotypy syndrome (LSS) is a very common, yet underrecognized condition. The pathophysiology of the condition is not well understood.

Objective: To evaluate and describe the visual kinematic characteristics of the repetitive leg movements in individuals with LSS.

Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis.

Objectives: In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA.

Methods: One hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study.

Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database.

Congenital fibrinogen deficiency (CFD) is a rare bleeding disorder caused by mutations in FGA, FGB, and FGG. We sought to comprehensively characterize patients with CFD using PRO-RBDD (Prospective Rare Bleeding Disorders Database). Clinical phenotypes, laboratory, and genetic features were investigated using retrospective data from the PRO-RBDD.

Central nervous system thrombosis in pediatric acute lymphoblastic leukemia in Turkey: A multicenter study.

Background: In patients with acute lymphoblastic leukemia (ALL), the risk of thromboembolism increases due to hemostatic changes secondary to the primary disease and due to treatment-related factors. In this multicenter study, we aimed to research the frequency of central nervous system (CNS) thrombosis occurring during treatment, hereditary and acquired risk factors, clinical and laboratory features of patients with thrombosis, treatment approaches, and thrombosis-related mortality and morbidity rates in pediatric ALL patients.

Procedure: Pediatric patients who developed CNS thrombosis during ALL treatment from 2010 to 2021 were analyzed retrospectively in 25 different Pediatric Hematology Oncology centers in Türkiye.

Screening of Swallowing and Feeding-Related Problems in Typically Developing Children.

The aim of this study was to define swallowing and feeding-related problems among typically developing children aged between 2 and 6 years. The presence of food selectivity, limited appetite, chewing dysfunction, and dysphagia signs was questioned and scored as "absent" or "present" according to parent report. Children were divided into 2 groups: children with swallowing and feeding disorders and children without swallowing and feeding disorders.

Prognostic value of systemic inflammation response index in patients with persistent human papilloma virus infection.

Objectives: Persistent human papilloma virus (HPV) infection is a risk factor for the progression of cervical neoplasia into invasive carcinoma. Many inflammatory markers obtaining from hemogram parameters as platelets, monocytes, lymphocytes, and neutrophils or their ratios are still under investigation in recent decades, especially in the oncology era. Indeed, there have not been enough data about the relationship between these parameters and cervical cancer in the literature.

The operational definition of epileptiform discharges significantly improves diagnostic accuracy and inter-rater agreement of trainees in EEG reading.

To assess whether trainees can learn and implement the operational definition of interictal epileptiform discharges (IEDs) of the International Federation of Clinical Neurophysiology (IFCN), based on six morphological criteria, and whether its implementation improves their diagnostic performance and inter-rater agreement (IRA). Seven trainees evaluated a balanced dataset of 70 EEG samples containing sharp transients (35 from patients with epilepsy and 35 from patients with non-epileptic paroxysmal events). The gold standard was derived from video-EEG recordings of the habitual clinical episodes.

Which tests can most effectively indicate the clinical phenotype of paediatric haemophilia patients with prophylaxis?

Patients with haemophilia A who have similar FVIII levels show clinical heterogeneity, and 10-15% of patients with severe haemophilia do not have a severe bleeding phenotype. The aim of this study was to assess whether global haemostasis tests, such as thrombin generation assay (TGA) and thromboelastography (TEG), can predict the bleeding pattern of severe haemophilia better than trough levels and pharmacokinetic profiles, particularly in the prophylactic setting. The study group consisted of 39 patients with haemophilia A and 75 healthy controls.

The assesment of prothrombotic potential using thrombin generation assay in pediatric patients with nephrotic syndrome: preliminary study.

Background: Nephrotic syndrome (NS) is a common kidney disease associated with an increased risk of thrombotic events. The aim of this study was to assess the prothrombotic potential of patients with NS using the thrombin generation assay (TGA).

Methods: A total of 35 patients with NS, who were followed in the Division of Pediatric Nephrology in Behcet Uz Children`s Hospital, were included in the study.

Children with chronic-refractory autoimmune cytopenias: a single center experience.

Background And Objectives: Autoimmune cytopenias are a group of heterogeneous disorders characterized by immune-mediated destruction of one or more hematopoietic lineage cells. The differential diagnosis of children with autoimmune cytopenias requires much time and laboratory investigations. The aim of the present study was to evaluate the clinical course and significance of autoimmune cytopenias due to immunodeficiency or autoimmune diseases in children at a single children`s hospital.

Assessment of Self-Image With the Offer Self-Image Questionnaire in Adolescents With Hemophilia: A Single-Center Experience.

Background: Hemophilia, which is a chronic illness associated with recurrent bleeding, may occur with psychosocial and behavioral problems.

Aim: The aim of this study was to evaluate the clinical characteristics and demographic features and changes in the self-image of adolescents with hemophilia.

Materials And Methods: Data about hemophilia type, the severity of hemophilia, secondary prophylaxis received, and annual bleeding rate (ABR) were recorded from patient files.

Evaluation of Bleeding Phenotype of Inherited Factor VII Deficiency in Children With a Bleeding Assessment Tool and Global Assays.

Introduction: Inherited factor VII (FVII) deficiency is the most common of the rare bleeding disorders and shows a heterogenous distribution of bleeding phenotypes independent of factor activity level. The bleeding score (BS) evaluates the phenotype of patients with rare bleeding disorders. Thromboelastography (TEG) and thrombin generation assays (TGAs) are 2 methods to evaluate global hemostasis, and controversially both tests are useful for identifying different bleeding tendency phenotypes.

A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated With Pyrimidine-5'-Nucleotidase Deficiency: A Case Report.

Pyrimidine-5-nucleotidase (P5'N-1) deficiency is a rare nonspherocytic hemolytic anemia due to pyrimidine nucleotide deposition within erythrocytes. This rare erythrocyte disorder shows autosomal recessive inheritance with mutation of the pyrimidine-5'-nucleotidase gene, which is localized on 7p15-p14. Consanguinity of parents increases the probability of disease with novel mutations.

Stroke Prevalence in a Coastal Town on the Black Sea Coast in Turkey: Community Based Study.

Background: This study aims to determine the stroke prevalence in Akçakoca which is a rural area in Turkey.

Methods: The study was designed as a cross-sectional, door-to-door survey. The stroke questionnaire was completed by a trained team in the presence of the participants according to their answers.

Aplastic Anemia as an Immune-mediated Complication of Thymoma: A Case Report.

Thymomas are the most common masses located in the anterior mediastinum, and they are often associated with autoimmune disorders including myasthenia gravis, polymyositis, and aplastic anemia (AA). Autoreactive T-cell clones generated by the thymoma may lead to autoimmune disorders. We report the case of a 14-year-old boy who was examined for AA, and the underlying cause was determined to be an immune-mediated complication of thymoma.

Prevalence of Multiple Sclerosis in a Turkish City Bordering an Iron and Steel Factory.

Background And Purpose: Multiple sclerosis (MS) is an autoimmune disease characterized by inflammatory demyelination. Recent studies have shown that long-term exposure to air pollutants (including PM10 particulates) is potentially an environmental risk factor for MS. We aimed to determine the prevalence rates of MS in two cities with different levels of air pollution.

Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.

Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene.

Case Presentation: We report a girl which presented with sensorineural deafness treated with a hearing prosthesis, insulin requiring diabetes, macrocytic anemia, treated with thiamine (100 mg/day).

HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis.

The genetic basis of haemophagocytic lymphohistiocytosis (HLH) has not been elucidated in 10% of affected patients. In this study, we report four HLH episodes in three patients with HAX1 gene mutations. We screened the mutations associated with congenital neutropenia (CN) because the neutropenia persisted following HLH treatment.

Assessment of sleep in pediatric cancer patients.

İnce D, Demirağ B, Karapınar TH, Oymak Y, Ay Y, Kaygusuz A, Töret E, Vergin C. Assessment of sleep in pediatric cancer patients. Turk J Pediatr 2017; 59: 379-386.