Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis.

Primary hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder associated with autosomal recessive variants in genes required for perforin-mediated lymphocyte cytotoxicity. A rapid diagnosis is crucial for successful treatment. Although defective cytotoxic T lymphocyte (CTL) function causes pathogenesis, quantification of natural killer (NK)-cell exocytosis triggered by K562 target cells currently represents a standard diagnostic procedure for primary HLH.

Bidirectionality of LF when the movie makes you sad: Effects of negative emotions on heart rate variability among patients with major depression.

Objectives: Heart rate variability (HRV) reflects the capacity to adapt to internal and environmental changes. Decreased HRV may indicate inadequate adaptive capacity. This study aims to investigate the relationship between the heart and brain's adaptive abilities, both at rest and when negative emotions are stimulated in depression.

HOOK ASSISTED REDUCTION IN CEPHALOMEDULLARY NAILING WITHOUT TRACTION TABLE.

Introduction: Proximal femoral nailing for intertrochanteric femur fracture is sometimes a challenging procedure without a traction table, especially if complicated fracture pattern. We aimed to overcome this difficulty with the hook.

Materials And Methods: A retrospective study of 60 patients.

Repair of a complete sternal cleft in a five-month-old female infant.

Failed midline ventral fusion of sternal bars is the cause of complete sternal cleft, which is a rare congenital anomaly that may cause cardiopulmonary compromise. Very few cases of complete sternal cleft have been reported so far in the literature. Surgical correction is recommended to protect mediastinal structures and to restore respiratory dynamics.

Clinical practice guidelines for the diagnosis and treatment of scabies.

Scabies, caused by the Sarcoptes scabiei var hominis mite burrowing into the skin, is a highly contagious disease characterized by intense nocturnal itching. Its global impact is considerable, affecting more than 200 million individuals annually and posing significant challenges to healthcare systems worldwide. Transmission occurs primarily through direct skin-to-skin contact, contributing to its widespread prevalence and emergence as a substantial public health concern affecting large populations.

Chronic granulomatous disease: A single-center experience in Central Anatolia.

Background: Chronic granulomatous disease (CGD), one of the phagocytic cell defects, is the primary immunodeficiency caused by dysfunction of the NADPH oxidase complex in neutrophils.

Methods: The clinical, demographic and laboratory findings of 17 CGD patients who were followed-up between 2002 and 2021 were obtained retrospectively from the records of the patients.

Results: The number of male and female patients was 10/7.

The Evaluation of the Genetic Variation Types of the Gene by Next-Generation Sequencing and Their Effects on Bilirubin Levels in Obese Children.

Obesity is a major nutritional problem with an increasing prevalence among children and adolescents. The () gene encodes the UDP-glucuronosyl transferase enzyme, converting the toxic form of bilirubin to a soluble, nontoxic form. There are yet to be studies on the evaluation of the variant types detected by next-generation sequencing (NGS) and their effects on bilirubin levels in nonsyndromic obese children.

Clinical spectrum of patients diagnosed with childhood mastocytosis: a retrospective single center experience.

Pediatric cutaneous mastocytosis patients diagnosed and followed up by our specialist were enrolled in this study, and clinical and laboratory evaluations were retrospectively analyzed from patients' archived files. Patients, who applied to the Division of Pediatric Allergy And Immunology Unit of a University Training and Research Hospital between 01.01.

Distinctive sleep complaints and polysomnographic findings in antibody subgroups of autoimmune limbic encephalitis.

Introduction: Sleep disturbances are being increasingly recognized in association with autoimmune encephalitis (AIE). We investigated the prevalence of sleep-related symptoms and polysomnographic features of patients with AIE and the long-term outcomes in these patients in a multi-center, prospective study from Turkey.

Methods: We prospectively evaluated patients with definite AIE in a common database including demographics, AIE-related and sleep-related symptomatology.

The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era.

Background: To evaluate the utility of genetic testing for etiology-specific diagnosis (ESD) in infantile epileptic spasms syndrome (IESS) with a step-based diagnostic approach in the next-generation sequencing (NGS) era.

Methods: The study cohort consisted of 314 patients with IESS, followed by the Pediatric Neurology Division of Ege University Hospital between 2005 and 2021. The ESD was evaluated using a step-based approach: step I (clinical phenomenology), step II (neuroimaging), step III (metabolic screening), and step IV (genetic testing).

Assessing parental comprehension of online resources on childhood pain.

We aimed to examine the patient education materials (PEMs) on the internet about "Child Pain" in terms of readability, reliability, quality and content. For our observational study, a search was made on February 28, 2024, using the keywords "Child Pain," "Pediatric Pain," and "Children Pain" in the Google search engine. The readability of PEMs was assessed using computer-based readability formulas (Flesch Reading Ease Score [FRES], Flesch-Kincaid Grade Level [FKGL], Automated readability index (ARI), Gunning Fog [GFOG], Coleman-Liau score [CL], Linsear Write [LW], Simple Measure of Gobbledygook [SMOG]).

Nighttime Treatment of Ruptured Intracranial Aneurysms Are Associated With Poor Outcomes.

Background And Objectives: Rebleeding of ruptured intracranial aneurysms (RIA) is associated with poor outcomes. Although immediate treatment of RIAs is preferred, optimal treatment timing is multifactorial and may be a complicating factor for achieving the best outcomes. The objective of this study was to compare outcomes for patients with RIAs as a function of treatment time of day.

The clinical value of amplitude-integrated electroencephalography in a historical cohort with neonatal encephalopathy: A comparison of short-term versus prolonged-period monitoring.

Background: To compare the amplitude-integrated electroencephalography (aEEG) monitoring (short-term versus prolonged-period) for neonatal seizure detection and outcome.

Methods: The aEEG monitoring in a historical cohort (n = 88, preterm:42, and term:46) with neonatal encephalopathy between 2010-2022 was re-evaluated for neonatal seizures (electrographic, electro-clinical, and clinical seizures) and EEG background scoring. The cohort was dichotomized: group I (short-period with 6-12 h, n = 36) and group II (prolonged-period with 24-48 h, n = 52).

Roxadustat versus placebo for patients with lower-risk myelodysplastic syndrome: MATTERHORN phase 3, double-blind, randomized controlled trial.

In patients with lower-risk myelodysplastic syndromes/neoplasms (MDS), response to first-line therapy is limited and transient. The MATTERHORN randomized, double-blind, phase 3 trial evaluated roxadustat versus placebo for patients with transfusion-dependent, lower-risk MDS. Eligible patients had very low-, low-, or intermediate-risk MDS with or without prior erythropoiesis-stimulating agent treatment, and a transfusion burden of 1-4 packed red blood cell (pRBC) units every 8 weeks (Q8W).

Evaluation of epicardial adipose tissue in children with type 1 diabetes.

Introduction: Epicardial adipose tissue (EAT), the visceral fat surrounding the heart between the myocardium and visceral pericardium, intersects with Type 1 diabetes (T1D). This review aims to elucidate the intricate association between EAT and childhood T1D.

Materials And Methods: In this retrospective study, two pediatric groups were involved children with type 1 diabetes, and healthy children.

HALP score as a novel prognostic factor for patients with myelodysplastic syndromes.

Myelodysplastic syndrome (MDS) is a heterogeneous spectrum of clonal hematopoietic disorders with varying degrees of cytopenia and morphologic dysplasia. The hemoglobin, albumin, lymphocyte, and platelet (HALP) score is a prognostic marker in several types of malignant tumors. Prognostic value of HALP score remains unclear for MDS.

Physical comorbidities of older age bipolar disorder (OABD) patients: A global replication analysis of prevalence and sex differences.

Objectives: To compare the prevalence of physical morbidities between older aged patients with bipolar disorder (OABD) and non-psychiatric comparisons (NC), and to analyze sex differences in prevalence.

Methods: OABD was defined as bipolar disorder among adults aged ≥50 years. Outcomes analyzed were the prevalence of diseases affecting the cardiovascular, respiratory, gastrointestinal, genitourinary, renal, musculoskeletal, and endocrine systems.