Therapeutic implications of etiology-specific diagnosis of early-onset developmental and epileptic encephalopathies (EO-DEEs): A nationwide Turkish cohort study.

Objective: To evaluate the etiology-specific diagnosis of early-onset developmental epileptic encephalopathies (EO-DEEs) in a nationwide Turkish cohort to determine the implications for therapeutic management.

Methods: The cohort comprised 1450 patients who underwent EO-DEE. The utility of genetic testing was assessed with respect to the initial phases of next generation sequencing (NGS) (2005-2013) and the current NGS era (2014-2022).

Nivolumab-associated IgA Nephropathy in a Child With Malignant Melanoma.

Immune checkpoint inhibitors are humanized antibodies that inhibit downregulatory receptors on T cells, enhancing the antitumor activity of these cells. However, they have been associated with a wide range of systemic immune-related adverse events, including renal toxicities, among others. Most renal immune-related adverse events are acute interstitial nephritis causing acute kidney injury.

Investigation of the Effect of Antiseizure Medications on Cognition in Patients With Epilepsy.

The effect of antiseizure medications (ASMs) on cognition varies depending on the type of ASM. We aimed to investigate the effects of ASMs on patients with epilepsy based on the conflicting findings in the literature. Patients diagnosed with epilepsy who were taking ASMs were included.

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]).

Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.

Objective: Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder characterized by progressive neurologic and extraneurologic findings. The aim of this retrospective, descriptive study was to explore the time of presentation and diagnosis, and to expand the phenotype and genotype of CTX, based on a nationwide and comprehensive series of patients in Turkey.

Methods: The demographic, clinical, biochemical and genotypic characteristics of the CTX patients were reviewed.

Baseline characteristics of patients with heart failure with mildly reduced or preserved ejection fraction: The FINEARTS-HF trial.

Aims: To describe the baseline characteristics of participants in the FINEARTS-HF trial, contextualized with prior trials including patients with heart failure (HF) with mildly reduced and preserved ejection fraction (HFmrEF/HFpEF). The FINEARTS-HF trial is comparing the effects of the non-steroidal mineralocorticoid receptor antagonist finerenone with placebo in reducing cardiovascular death and total worsening HF events in patients with HFmrEF/HFpEF.

Methods And Results: Patients with symptomatic HF, left ventricular ejection fraction (LVEF) ≥40%, estimated glomerular filtration rate ≥ 25 ml/min/1.

Causes and management of urinary system problems in children on long-term home invasive mechanical ventilation.

Many ventilator-dependent children have comorbid conditions including urinary tract disorders. We aimed to present a focused review of the literature describing the causes and management of urinary system problems in children with long-term home mechanical ventilation. We performed a literature search in PubMed/MEDLINE, Scopus, and Web of Science with keywords "children," "home mechanical ventilation," "urinary system," "urinary tract," "neurogenic bladder," "clean intermittent catheterization," "urinary tract infection," "urolithiasis," and "acute kidney injury.

Cognition as a parameter in monitoring the effect of multiple sclerosis relapse treatment: A prospective controlled study.

Background: Cognitive evaluation was considered to be very important in the relapse period, on the basis of the presence of isolated cognitive attacks and the necessity of monitoring the patient both physically and cognitively.

Materials And Methods: People with MS (pwMS) who were hospitalized during relapse were included in the study. All MS patients were evaluated by the neurologist with Expanded Disability Status Scale (EDSS), The 9 Hole Peg Test (9HPT) and the Timed 25-Foot Walk Test (T25-FWT).

Current barriers and recommendations on the diagnosis of transthyretin amyloid cardiomyopathy: a Delphi study.

Objectives: This study has been conducted to investigate the non-invasive diagnostic journey of patients with a transthyretin amyloid cardiomyopathy (aTTR-CM) in Turkey, identify the challenges and uncertainties encountered on the path to diagnosis from the perspectives of expert physicians, and develop recommendations that can be applied in such cases.

Methods: This study employed a three-round modified Delphi method and included 10 cardiologists and five nuclear medicine specialists. Two hematologists also shared their expert opinions on the survey results related to hematological tests during a final face-to-face discussion.

Emotion dysregulation and social communication problems but not ToM properties may predict obsessive-compulsive disorder symptom severity.

Objective: Studies have shown that theory of mind, emotion regulation and pragmatic abilities are negatively affected in people with obsessive-compulsive disorder OCD). We aimed to investigate theory of mind (ToM) abilities, social responsiveness, pragmatic language, and emotion regulation skills in children with OCD and to compare them to healthy controls.

Methods: This study was designed as a single-center, cross-sectional, case-control study.

A Successful Treatment Approach in 2 Patients With Type 1 Plasminogen Deficiency: Intratracheal Application of Fresh Frozen Plasma and Tissue Plasminogen Activator.

Background: Respiratory system involvement is common in congenital plasminogen deficiency. Although many treatment approaches have been tried, there is still no definitive treatment for respiratory system involvement.

Observations: We report 2 congenital plasminogen deficiency cases, who presented with severe respiratory symptoms, for whom a novel treatment modality was tried.

The effects of subtoxic dose of acetaminophen combined with exercise on the liver of rats.

Regular physical exercise is beneficial to the body. Acute exercise causes oxidant stress in many tissues including the liver by creating an unbalanced status between oxidant and antioxidant levels. Analgesic drugs are commonly consumed to reduce the pain after exercise.

The effects of Spirulina platensis on behavior in adolescent rats fed a high-fat diet.

In recent years, childhood overweight and obesity have become a universal public health problem. Obesity may lead to cognitive disorders, depression and anxiety by affecting neuronal processes. Spirulina platensis (SP), a species of microalgae from the Chlorophyceae green algae class, has neuroprotective effects and may reduce body weight.

Unmet clinical needs and challenges in the management of acute leukemia in Turkey: a modified Delphi study.

To determine the unmet needs and challenges in management, diagnosis, treatment, follow-up and patient-physician communication in acute leukemia (AL). The study was based on a modified Delphi approach. A questionnaire including the major potential obstacles was circulated twice among 13 hematologists.

The role of height and weight growth in spontaneous resolution of vesicoureteral reflux.

Background: The aim of this study was to investigate the role of height and weight growth in the resolution of primary vesicoureteral reflux (VUR).

Methods: We retrospectively evaluated the data of 74 males and 135 females who were diagnosed with primary VUR. According to the vesicoureteral reflux resolution, patients were divided into two groups.

The Effect of Noise Exposure on Hearing Function and Vestibular Evoked Myogenic Potentials.

Purpose: Exposure to noise can cause damage to both auditory and vestibular systems. The objective of this study is to evaluate how noise exposure affects the hearing and vestibular systems in individuals with noise-induced hearing loss (NIHL).

Methods: This study included 80 subjects (40 subjects with NIHL, and 40 controls), between 26 and 59 years old.

Association Between Eating Disorder Risk and Family Structure and Social Appearance Anxiety Among College Freshman.

Objective: Eating disorders can be described as continuous eating or eating-related behavior disorders that are detrimental to health or psychosocial function. The present study determines the association between eating disorder risk and family structure and social appearance anxiety among college freshman.

Method: This cross-sectional study was carried out among 683 freshman based on socio-demographic data, Eating Attitude Test, a Family Structure-System Assessment Device comprising 36 questions and a Social Appearance Anxiety Scale.

Late onset Bartter syndrome: Bartter syndrome type 2 presenting with isolated nephrocalcinosis and high parathyroid hormone levels mimicking primary hyperparathyroidism.

Objectives: Nephrocalcinosis is associated with conditions that cause hypercalcemia and the increased urinary excretion of calcium, phosphate, and/or oxalate. A monogenic etiology is found in almost 30% of childhood-onset nephrocalcinosis which is also a common manifestation of primary hyperparathyroidism. We discuss a child with nephrocalcinosis and features mimicking primary hyperparathyroidism.

GNRI And Conut Scores: Simple Predictors of Sarcopenia in Metastatic Colorectal Cancer Patients.

Objective: To evaluate the correlation between sarcopenia and inflammation- and nutrition-based markers in metastatic colorectal cancer (mCRC) patients.

Materials And Methods: Age, body mass index (BMI), neutrophil/lymphocyte ratio (NLR), modified Glasgow prognostic score (mGPS), prognostic nutrition index (PNI), cachexia index (CIn), skeletal muscle index (SMI), controlling nutritional status (CONUT) score, and geriatric nutritional risk index (GNRI) were evaluated in 185 patients. Ideal cut-off values for the GNRI score were determined with the ROC curve analysis, and the patients were divided into two groups as low and high GNRI.