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.

Clinical spectrum of primary hemophagocytic lymphohistiocytosis: experience of reference centers in Central and Southeast Anatolia.

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease, with a high mortality if left untreated. In addition, the disease has unique diagnostic challenges. Therefore, despite the existing guidelines on management, current clinical practice data is informative on the course and outcome.

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.

Evidence-based herbal treatments in liver diseases.

The liver is the main organ for metabolic and detoxification reactions in the body. Therefore, its diseases can be associated with both metabolic disorders, such as insulin resistance, obesity, diabetes, or dyslipidemia, and exogenous insults such as drugs, xenobiotics, or alcohol. Indeed, lifestyle changes are the primary approaches for the prevention and treatment of liver diseases.

Numerical Modeling of Mechanical Behavior of Functionally Graded Polylactic Acid-Acrylonitrile Benzidine Styrene Produced via Fused Deposition Modeling: Experimental Observations.

Functionally graded materials (FGM) have attracted considerable attention in the field of composite materials and rekindled interest in research on composite materials due to their unique mechanical response achieved through material design and optimization. Compared to conventional composites, FGMs offer several advantages and exceptional properties, including improved deformation resistance, improved toughness, lightness properties, and excellent recoverability. This study focused on the production of functionally graded (FG) polymer materials by the additive manufacturing (AM) method.

In silico and biological activity evaluation of quercetin-boron hybrid compounds, anti-quorum sensing effect as alternative potential against microbial resistance.

Boronic acid compounds and the natural flavonoid compound quercetin were handled to synthesize two novel ligands encoded as B1(2,2'-(1,4-phenylenebis (benzo [1,3,2] dioxaborole-2,5-diyl)) bis (3,5,7-trihydroxy-4H- chromen-4-one) and B2(3.3.6.

Pulmonary Embolism in Childhood: A Multicenter Experience from Turkey.

Background: Pulmonary embolism is a clinical condition caused by the obstruction of the pulmonary artery and its branches with endogenous, exogenous embolism, or local thrombus formation. It is a rare but potentially life-threatening event in the pediatric population. Pediatric pulmonary embolism has many unknown characteristics.

Central Nervous System Fungal Infections in Children With Leukemia and Undergoing Hematopoietic Stem Cell Transplantation: A Retrospective Multicenter Study.

Background: Central nervous system fungal infections (CNSFI) are seen in patients with hematologic malignancies and have high morbidity and mortality. Because of their rarity, there is limited data on CNSFI in children with no established treatment protocols or guidelines.

Materials And Methods: In this multicenter retrospective study, 51 pediatric patients with leukemia, 6 of whom had undergone bone marrow transplantation, with proven or probable CNSFI were evaluated.

Evaluation of botanicals as potential COVID-19 symptoms terminator.

Information about the coronavirus disease 2019 (COVID-19) pandemic is still evolving since its appearance in December 2019 and has affected the whole world. Particularly, a search for an effective and safe treatment for COVID-19 continues. Botanical mixtures contain secondary metabolites (such as flavonoids, phenolics, alkaloids, essential oils ) with many therapeutic effects.

An Electrocardiographic Clue for Pseudo-myocardial Infarction Due to Arterial Pulse-tapping Artifact: Aslanger's Sign.

Many factors and technical problems may alter the interpretation of electrocardiograms (ECGs). Infrequently, an artifact is considered to be the cause of ST-segment elevation, especially in asymptomatic patients. An important difference between true ST-segment elevation attributable to myocardial infarction and an artifact is that the baseline elevation in an artifact may begin before or after the onset of the QRS complex.

Impact of the HEAD-US Scoring System for Observing the Protective Effect of Prophylaxis in Hemophilia Patients: A Prospective, Multicenter, Observational Study.

Objective: This study aimed to observe the preventive effect of prophylactic treatment on joint health in people with hemophilia (PwH) and to investigate the importance of integration of ultrasonographic examination into clinical and radiological evaluation of the joints.

Materials And Methods: This national, multicenter, prospective, observational study included male patients aged ≥6 years with the diagnosis of moderate or severe hemophilia A or B from 8 centers across Turkey between January 2017 and March 2019. Patients were followed for 1 year with 5 visits (baseline and 3, 6, 9, and 12 month visits).

Phytotherapeutic and Natural Compound Applications for Age-Related, Inflammatory and Serious Eye Ailments.

Tissue cells of the eye are sensitive to oxidative stress, leading to oxidative damage and inflammation, which have crucial roles in the pathogenesis of most of the eye diseases. Moreover, factors such as age, angiogenesis, ischemia, genetic predisposition, diabetes, obesity, and smoking affect the onset and progression of ocular anomalies. Major eye diseases are either age-related such as age-related macular degeneration, cataracts, diabetic retinopathy, glaucoma, dry eye, or inflammatory eye diseases such as blepharitis, conjunctivitis, uveitis and other retinal pathologies, which can cause ocular damage and visual problems through oxidative stress, inflammation pathways.

From nutrition to medicine: Assessing hemorrhoid healing activity of Solanum melongena L. via in vivo experimental models and its major chemicals.

Ethnopharmacological Relevance: Solanum melongena L. (eggplant) is used for treatment of rheumatism, beriberi, itching, toothache, bleeding, asthma, bronchitis, cholera, neuralgia and hemorrhoids in traditional medicine (Turkish, Chinese, and Indian). Hemorrhoids from these diseases, are common illness in all over the world, which are treated with various approaches including ethnobotanicals.

Efficacy of Haptic Pedal Feel Compensation on Driving With Regenerative Braking.

In this article, we study the efficacy of haptic pedal feel compensation on driving safety and performance during regenerative braking. In particular, we evaluate the effectiveness of the preservation of the natural brake pedal feel under two-pedal cooperative braking and one-pedal driving scenarios, through human subject experiments in a simulated vehicle pursuit task. The experimental results indicate that pedal feel compensation can significantly decrease the hard braking instances, improving safety for both two-pedal cooperative braking and one-pedal driving conditions.

Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry.

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.

Traumatic hyphema in a patient with severe hemophilia A: Clinical features and management.

Purpose: To describe a case of traumatic hyphema in a patient with severe hemophilia A.

Case: We present a case of a 16-year-old boy with severe hemophilia A who presented to our ophthalmology department with total hyphema and elevated intraocular pressure 3 days after a history of blunt ocular trauma on his right eye. Due to the persistent intraocular pressure elevation and total hyphema despite medical intervention, an early anterior chamber washout was performed with the replacement of factor VIII preoperatively and postoperatively.

Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations.

Introduction: Glanzmann thrombasthenia is a rare congenital platelet dysfunction.

Case Characteristics: A 2-day-old male neonate delivered at 35 weeks' gestation was referred with extensive bruising and jaundice. His elder sibling had Glanzmann thrombasthenia, and his mother had thrombophilic risk factors.

Deferasirox in children with transfusion-dependent thalassemia or sickle cell anemia: A large cohort real-life experience from Turkey (REACH-THEM).

Objectives: To evaluate the long-term efficacy and safety of deferasirox therapy in a large observational cohort of children with transfusion-dependent thalassemia (TDT) and sickle cell anemia (SCA) in Turkey.

Methods: This was a multicenter, prospective cohort study including TDT and SCA patients aged 2-18 years with iron overload (≥100 mL/kg of pRBC or a serum ferritin [SF] level >1000 μg/L) receiving deferasirox. Patients were followed for up to 3 years according to standard practice.

Coexistence of Kasabach-Merritt Syndrome and placental chorioangioma in a premature infant.

Kasabach-Merritt syndrome is a rare life-threatening clinical presentation in neonatal period. it is characterized by giant hemangioma and serious thrombocytopenia. The diagnostic criteria include: 1) hemangiomas on skin, 2) thrombocytopenia or coagulopathy, 3) hemangioma on internal organs diagnosed by ultrasonography, computed tomography or magnetic resonance imaging, and 4) excluding reasons, such as idiopathic thrombocytopenic purpura or hypersplenism.

INTERDIGITAL NECROBACILLOSIS ASSOCIATED WITH TRUEPERELLA PYOGENES IN GOITERED GAZELLES ( GAZELLA SUBGUTTUROSA).

  This study presents the clinical findings, treatment results, and gross pathology of Trueperella pyogenes-associated interdigital necrobacillosis in captive goitered gazelles ( Gazella subgutturosa). Four male and two female gazelles presented with weight loss, front limb swelling, and persistent lameness despite antibiotic treatment. The animals were reluctant to bear weight on the affected limbs, and the diagnosis of interdigital necrobacillosis was made based on physical exam, bacteriologic evaluation, and radiographic imaging.

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.

Chediak-Higashi syndrome (CHS) is caused by autosomal recessive mutations in , resulting in enlarged lysosomal compartments in multiple cell types. CHS patients display oculocutaneous albinism and may develop life-threatening hemophagocytic lymphohistiocytosis (HLH). While NK cell-mediated cytotoxicity has been reported to be uniformly defective, variable defects in T cell-mediated cytotoxicity has been observed.

A National Registry of Thalassemia in Turkey: Demographic and Disease Characteristics of Patients, Achievements, and Challenges in Prevention.

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 β-thalassemia major (n=1658, 83.

Juvenile Myelomonocytic Leukemia in Turkey: A Retrospective Analysis of Sixty-five Patients.

Objective: This study aimed to define the status of juvenile myelomonocytic leukemia (JMML) patients in Turkey in terms of time of diagnosis, clinical characteristics, mutational studies, clinical course, and treatment strategies.

Materials And Methods: Data including clinical and laboratory characteristics and treatment strategies of JMML patients were collected retrospectively from pediatric hematology-oncology centers in Turkey.

Results: Sixty-five children with JMML diagnosed between 2002 and 2016 in 18 institutions throughout Turkey were enrolled in the study.

A Comparison of Physical Education Students' Motivation Using Polish and Turkish Versions of the Academic Motivation Scale.

Motivation is an important phenomenon in the realm of education, particularly in the university fields connected with physical education and sport, where it is necessary to accommodate and balance intellectual abilities and physical fitness. The present study tested motivation levels among university students in the fields connected with physical education and sport in Poland and Turkey. It was based on the Self-Determination Theory (Deci and Ryan, 1985), namely intrinsic motivation, extrinsic motivation and amotivation which impact human behaviour.