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.

Lower Arginine Bioavailability, Increased FeNO Levels, and Airway Resistance on Impulse Oscillometry Are Characteristics of Asthma in Children and Young Adults with Sickle Cell Disease.

: Data on characteristics of asthma in children with sickle cell disease (SCD) is conflicting. Recently, the L-arginine pathway has gained attention in the pathogenesis of asthma and SCD. This study aimed to determine the distinctive clinical and laboratory features and the role of arginine metabolism in asthmatic children with SCD.

Plasma sphingolipids in patients with sickle cell disease: Multiple-site vaso-occlusive crises could be associated with lower sphingolipid levels.

Although sickle cell disease (SCD) and its manifestations have been associated with various lipid alterations, there are a few studies exploring the impact of sphingolipids in SCD. In this study, we determined plasma ceramide (Cer) and sphingomyelin (CerPCho) species and investigated their association with the crisis in SCD. SCD patients (N = 27) suffering from vaso-occlusive crisis (VOC) or acute chest syndrome (ACS) were involved in this study.

Toxic Skin Reactions Should Be Differentiated from Allergic Reactions to Chemotherapeutic Drugs in Children: A Case Series and Review of the Literature.

Chemotherapeutic drugs can lead to a wide spectrum of cutaneous findings, ranging from nonimmune toxic reactions to severe immune-mediated hypersensitivity reactions. The aim of this study was to evaluate the clinical, histopathological features, and prognosis of toxic skin reactions to chemotherapeutic drugs and to compare them with characteristics of immune-mediated reactions in children with malignancies. The medical records of all children with cancer who experienced skin reactions after chemotherapy administration and diagnosed as a toxic skin reaction between 2010 and 2022 were retrospectively analyzed.

Thromboprophylaxis in pediatric patients with earthquake-related crush syndrome: a single centre experience.

Purpose: Injuries increase the risk of venous thromboembolism (VTE). However, the literature on the management of anticoagulant therapy in pediatric patients with crush injury is limited. In this study, we aimed to share our experience about anticoagulant thromboprophylaxis in pediatric patients with earthquake-related crush syndrome.

Evaluation of Intestinal Microbiota in Children With Sickle Cell Disease.

Background And Aims: Sickle cell disease (SCD) is a chronic hemolytic anemia that may be life-threatening due to multisystemic effects. Identification of the factors which affect the pathophysiology of the disease is important in reducing mortality and morbidity. This study aimed to determine gut microbial diversity in children and adolescents with SCA compared with healthy volunteers and to evaluate the clinical impact of microbiota.

A feasibility study of risk prediction modelling for vasoocclusive crisis in children with sickle cell disease.

Background: The availability of a selection of biomarkers that includes information about disease risk is very important in the treatment of sickle cell disease (SCD). We used the predictiveness curve (PC), which classifies diseased individuals according to low- and high-risk thresholds, for this purpose. Our aim was to define this new statistical method and to determine the biomarkers that predict vaso-occlusive crisis (VOC) in children with SCD to guide preventive treatment.

The role of immature granulocyte percentage in predicting acute chest syndrome and the severity of the vaso-occlusive crisis in sickle cell disease.

Background: Sickle cell disease (SCD) is an inflammatory disease that can result in both chronic and acute inflammation. Immature granulocytes (IG) are not-yet-mature white blood cells that can be easily detected in complete blood count (CBC) tests. In recent studies it has been suggested that IG may play a role in determining the prognosis of inflammatory diseases.

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.

Sickle Cell Disease and Psychosocial Well-Being: Comparison of Patients With Preclinical and Clinical Avascular Necrosis of the Femoral Head.

Aim: Sickle cell disease (SCD) has significant adverse psychosocial impacts in childhood. Patients with SCD may be affected by avascular necrosis (AVN) and the most commonly involved site is the femoral head. We aimed to conduct a comparative investigation of the psychosocial well-being of pediatric SCD patients with preclinical and clinical femoral head AVN.

Impact of injectable chitosan cryogel microspherescaffolds on differentiation and proliferation of adiposederived mesenchymal stem cells into fat cells.

Difficulty in the clinical practice of stem cell therapy is often experienced in achieving desired target tissue cell differentiation and migration of stem cells to other tissue compartments where they are destroyed or die. This study was performed to evaluate if mesenchymal stem cells (MSCs) may differentiate into desired cell types when injected after combined with an injectable cryogel scaffold and to investigate if this scaffold may help in preventing cells from passing into different tissue compartments. MSCs were obtained from fat tissue of the rabbits as autografts and nuclei and cytoplasms of these cells were labeled with BrdU and PKH26.

Investigation of the relationship between periodontal and systemic inflammation in children with Sickle Cell Disease: A case- control study.

Periodontal diseases are chronic inflammatory diseases and tissue destruction increases with oxidative stress in periodontal tissues. Periodontal diseases are associated with systemic diseases such as diabetes, cardio-vascular diseases and rheumatoid arthritis by means of systemic inflammation. Sickle cell disease (SCD) is a chronic inflammatory disease in which vaso-occlusive crisis and endothelial dysfunction are present.

Evaluation of the relationship between intravascular hemolysis and clinical manifestations in sickle cell disease: decreased hemopexin during vaso-occlusive crises and increased inflammation in acute chest syndrome.

The aims of this study were to determine the possible relationships between the levels of hemin, hemopexin, acid sphingomyelinase, nitrite/nitrate (NOx), and other parameters in patients with SCD and to assess whether they were associated with vaso-occlusive crises (VOCs) or acute chest syndrome (ACS). Patients with SCD (homozygous or sickle beta-thalassemia) who were confirmed to have VOC or ACS were included. Blood samples were obtained at admission, on the third day of hospitalization, and at steady state.

Patient-controlled analgesia and morphine consumption in sickle cell anemia painful crises: A new protocol.

Objectives: The sudden and rapidly increasing severity of pain in sickle cell anemia painful crises frequently requires the use of strong opioids. Patients require continuous administrations of various doses (increased/decreased) within the following hours. This study aims to retrospectively evaluate the effects of a structured protocol based on standardized Visual Analogue Scale (VAS) and Patient-controlled analgesia (PCA) patient demand count on morphine consumption in painful crises.

Altered HDL particle in sickle cell disease: decreased cholesterol content is associated with hemolysis, whereas decreased Apolipoprotein A1 is linked to inflammation.

Background: Hypocholesterolemia is the most frequently encountered lipid abnormality in sickle cell disease (SCD). We enrolled pediatric patients to determine the relationships between lipid profile and parameters of hemolysis, oxidative stress and chronic inflammation in SCD.

Methods: The study involved 35 pediatric SCD patients and 19 healthy controls.

Evaluation of Ocular Complications by Using Optical Coherence Tomography in Children With Sickle Cell Disease Eye Findings in Children With Sickle Cell Disease.

Objective: The aim of this study was to compare optical coherence tomography (OCT) findings in pediatric patients with sickle cell disease (SCD) and healthy individuals and to investigate associations between these data and the patients' systemic findings.

Materials And Methods: The study included 108 eyes of 54 patients with SCD with no visual symptoms and a control group consisting of 110 eyes of 55 healthy subjects with no systemic or ocular pathology. After best-corrected visual acuity assessment, the study participants underwent a complete ophthalmologic examination including intraocular pressure.

The increased neopterin content in turkish pediatric patients with sickle cell anemia.

In the present study, the possible activation of cellular immunity in SCD patients was investigated. As immune activation parameters, neopterin concentrations and kynurenine/tryptophan ratio for tryptophan degradation in 35 pediatric patients with sickle cell disease (31 HbSS and 4 HbSß) were determined. Our results have shown that neopterin levels (both urinary and serum) are increased in pediatric patients with sickle cell disease.

Oxysterol concentrations are associated with cholesterol concentrations and anemia in pediatric patients with sickle cell disease.

Sickle cell disease (SCD) causes anemia, oxidative stress, chronic inflammation, and lipid abnormalities. Oxysterols are oxidized derivatives of cholesterol and affect cholesterol metabolism and eryptosis. Our aim was to determine whether the plasma concentrations of 7-ketocholesterol (7-KC) and cholestane-3β,5α,6β-triol (C-triol) were associated with hemolysis and lipid profile in patients with SCD.

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.

Different Presentations of Patients with Transcobalamin II Deficiency: A Single-Center Experience from Turkey.

Objective: Transcobalamin II deficiency is a rare autosomal recessive disease characterized by decreased cobalamin availability, which in turn causes accumulation of homocysteine and methylmalonic acid. The presenting clinical features are failure to thrive, diarrhea, megaloblastic anemia, pancytopenia, neurologic abnormalities, and also recurrent infections due to immune abnormalities in early infancy.

Materials And Methods: Here, we report the clinical and laboratory features of six children with transcobalamin II deficiency who were all molecularly confirmed.

Vitamin D Deficiency and Its Association with Inflammatory Markers, Lipid Profile and Regulatory T-cells in Pediatric Sickle Cell Disease Patients.

We investigated vitamin D deficiency in pediatric sickle cell disease patients and its association with selected bone, lipid and inflammatory parameters. The study included 64 patients (33 SS and 31 SB) and 21 carriers (AS). Blood was obtained to assess levels of vitamin D, WBC, CRP, Ca, P, ALP, PTH, triglyceride, total cholesterol, LDL, VLDL, HDL, IL-2, IL-12, TNF-α, IL-4, IL-6, IL-10 and regulatory T cells.

Relationship between mean platelet volume-to-lymphocyte ratio and coronary artery abnormalities in Kawasaki disease.

Objectives: Recently, mean platelet volume-to-lymphocyte ratio has emerged as a novel parameter of inflammation. No study has investigated the role of mean platelet volume-to-lymphocyte ratio in children with Kawasaki disease. We aimed to evaluate the relationship between mean platelet volume-to-lymphocyte ratio and coronary artery abnormalities in Kawasaki disease.

Gingival enlargement in children with sickle cell disease.

The purpose of the present study was to evaluate periodontal health status in children with sickle cell disease (SCD). Forty-nine children with SCD and 39 systemically healthy sex- and age-matched children were enrolled in the study. Plaque index, gingival index, bleeding on probing, pocket depth, salivary volume, and hyperplastic index were recorded.

Bilateral Subperiosteal Hematoma and Orbital Compression Syndrome in Sickle Cell Disease.

A 14-year-old boy with sickle cell disease presented with preseptal cellulitis findings as proptosis, eyelid edema, and hyperemia. His best corrected visual acuity in the right eye was 20/20 and 16/20 in the left eye. He had limited ductions in vertical and lateral gazes in both eyes.

Short-cut diagnostic tool in cystinosis: Bone marrow aspiration.

Background: Cystinosis is a rare metabolic genetic disorder caused by a mutation in cystinosin lysosomal cystine transporter (CTNS). The diagnosis of nephropathic cystinosis (NC) is made by observing corneal cystine crystals and/or measuring the cystine content of leukocytes. CTNS mutation analysis confirms the diagnosis of cystinosis, but leukocyte cystine measurement and CTNS analysis have not been widely available, and cystine crystals in the cornea may not be apparent in the first months of life.