Neonatal/infantile-onset genetic epilepsies: The utility of genetic testing for molecular etiology-specific diagnosis concerning therapeutic implications.

Objective: To evaluate the significance of genetic testing in neonatal- and infantile-onset genetic epilepsies (NIGEP) for enhanced molecular diagnosis with management implications.

Methods: A single-center cohort of 128 patients with NIGEP (aged 0-36 months) from 2010 to 2022 was retrospectively assessed. The diagnostic utility of genetic testing, including next-generation sequencing (NGS) and chromosome-based approaches, was surveyed to determine their impact on antiseizure medication adjustments and precision medicine.

Frontal Plane QRS - T Angle Is a Predictor of Ventricular Arrhythmia in Heart Failure With Preserved Ejection Fraction.

Introduction: Various ventricular repolarization parameters are known to predict ventricular arrhythmias and mortality in various diseases. Although mortality in patients with heart failure with preserved ejection fraction (HFpEF) is similar to that in heart failure with reduced ejection fraction patients, studies on this subject are more limited. Therefore, it is important to evaluate the relationship between ventricular arrhythmias and mortality and ventricular repolarization parameters, especially the frontal plane QRS-T angle, in patients with HFpEF.

Correction: Zeng et al. Hedgehog Signaling: Linking Embryonic Lung Development and Asthmatic Airway Remodeling. 2022, , 1774.

In the original publication [...

Evaluation of the effects of regulatory T cells on survival outcomes in patients with acute leukemia who developed febrile neutropenia.

ObjectivesAcute leukemia often leads to severe complications such as febrile neutropenia. Mortality rates remain high, underscoring the need for novel prognostic markers. Regulatory T cells (Tregs) have not been extensively studied in this context.

An assessment of synthesis technique for porous nano and micro fibrous wound dressings with natural oil supplements.

For millennia, aloe vera (AV) and eucalyptus oil (EO) have been recognized as natural sources of healing and have been utilized for medicinal purposes in the realm of health. As an attempt to treat pressure sores, AV and eucalyptus oil were added as supplements to biocompatible and biodegradable poly (ethylene oxide) (PEO) polymer to synthesize nano and micro fibrous wound dressings by the electrospinning process. Additive solubility in polymeric matrix is the key parameter to achieve the synthesis of homogeneous fibers with controlled release of therapeutic oils, cure and humidity; therefore, lecithin as herbal (soybean) based emulsifier was used to control additive/polymer solubility.

Attitudes Towards COVID-19 Vaccination and Complementary Treatment Methods Among Adults.

Objective: This study aimed to examine the attitudes of adults toward COVID-19 vaccination and their use of complementary treatment methods.

Design: This study was cross-sectional and descriptive.

Setting: This study was conducted on 276 participants in Turkey between 15 May and 30 July 2021.

Clinical Characteristics, Management and Long-Term Outcomes of 180 Patients With Early-Stage Mycosis Fungoides at a Tertiary Centre-A 34-Year Retrospective Study.

Background: Mycosis fungoides (MF) is the commonest form of primary cutaneous T-cell lymphoma. Progression is slow, with frequent relapses. Data for predicting early-stage MF progression and recurrence are inadequate.

Docetaxel-loaded, dipeptide-functionalized γ-Fe2O3 magnetic nanoparticles: Synthesis, characterization and targeting to prostate cancer.

A new delivery system was designed and synthesized to increase the efficiency of Docetaxel. For this aim, γ-Fe2O3 was synthesized in order to give the nanoparticle the ability to be magnetic targeted. It was functionalized with citric acid to prevent clumping and maintain stability.

Exploiting Polynomial Chaos Expansion for Rapid Assessment of the Impact of Tissue Property Uncertainties in Low-Intensity Focused Ultrasound Stimulation.

Neuromodulation with low-intensity focused ultrasound (LIFUS) holds significant promise for noninvasive treatment of neurological disorders, but its success relies heavily on accurately targeting specific brain regions. Computational model predictions can be used to optimize LIFUS, but uncertain acoustic tissue properties can affect prediction accuracy. The Monte Carlo method is often used to quantify the impact of uncertainties, but many iterations are generally needed for accurate estimates.

Fam163a knockdown and mitochondrial stress in the arcuate nucleus of hypothalamus reduce AgRP neuron activity and differentially regulate mitochondrial dynamics in mice.

Aim: Mitochondria play key roles in neuronal activity, particularly in modulating agouti-related protein (AgRP) and proopiomelanocortin (POMC) neurons in the arcuate nucleus of the hypothalamus (ARC), which regulates food intake. FAM163A, a newly identified protein, is suggested to be part of the mitochondrial proteome, though its functions remain largely unknown. This study aimed to investigate the effects of Fam163a knockdown and mitochondrial dysfunction on food intake, AgRP neuron activity, and mitochondrial function in the hypothalamus.

Comparative elucidation of the phenolic profile and antioxidant and antimicrobial activities of unripe and ripe Pistacia lentiscus L. fruits and their oils as affected by ripening.

Background: Phenolic compounds, antioxidant activity, and antimicrobial properties of unripe and ripe mastic tree (Pistacia lentiscus L.) fruits and their oils were investigated.

Results: A total of 20 phenolic compounds were identified by using liquid chromatography-diode array detection and electrospray ionization tandem mass spectrometry, among which phenolic acids were predominant.

Idiopathic polyarteritis nodosa-does it still exist? Viewpoint 2: idiopathic polyarteritis nodosa is rare, but still exists.

Polyarteritis Nodosa (PAN), is the firstly described vasculitis and can be seen in paediatric and adult age. PAN has a heterozygous clinical picture including cutaneous, constitutional, musculoskeletal, gastrointestinal, and renal involvement. Description and splitting of other vasculitis, makes this medium vessel vasculitis, a very rare disease.

Highlights from the breakout session: management of special situations in systemic vasculitis.

Systemic vasculitis can present with different manifestations, some of which require unique approaches. This session at the 21st International Vasculitis Workshop, examined six studies focused on "Management of Special Situations". In ANCA-associated vasculitis (AAV), two institutions reported on their experience with subglottic stenosis (SGS) from the standpoint of histologic features and management compared to patients with idiopathic SGS.

Highlights from the breakout session: vasculitis in paediatric rheumatology.

The 21st International Vasculitis Workshop, held in Barcelona, Spain, from April 7 to 10, 2024, highlighted advances in pediatric vasculitis, focusing on a holistic, multidisciplinary approach. Common childhood vasculitides, including IgA Vasculitis (IgAV) and Kawasaki Disease (KD), were discussed. The Ankara 2008 criteria for IgAV, endorsed by EULAR and PReS, were evaluated for their performance in adults, showing high sensitivity but necessitating further refinement for improved specificity.

ERS Congress 2024: highlights from the Paediatrics Assembly.

https://bit.ly/40944lv.

Textile-based Low-frequency RC Filter for Noise Reduction in ECG signals.

Advancements in electronic textiles over the past decade have significantly transformed the field of wearable technology, with recent developments leading to the production of a wide array of textile-based sensing and actuation systems. Beyond sensors and actuators, textile-based technologies can benefit from the integration of additional electronic solutions within the framework of textilization. One such solution is filtering, which has primarily been explored in the context of high-frequency applications in e-textiles.

Functional Bacterial Cellulose-Based MXene (TiCT ) Electronic-Skin Patch for Accelerated Healing and Monitoring.

This study aims to develop and characterize electroactive hydrogels based on reduced bacterial cellulose (BC) and TiCT -MXene for their potential application in wound healing and real-time monitoring. The integration of TiCT -MXene into BC matrices represents a novel approach to creating multifunctional hydrogels that combine biocompatibility, electrical conductivity, and mechanical durability. These properties make the hydrogels promising candidates for advanced wound care and real-time monitoring applications.

Evaluation of Methylation and Changes in the Transcriptomics and Proteomics of the GRHL3, PHLDA3, and in Patients with Head and Neck Squamous Cell Carcinoma.

Introduction: Head and Neck Squamous Cell Carcinoma (HNSCC) is the sixth most common malignancy in the world. High mortality and severe complications are critical features of head and neck cancer. Changes in intracellular signaling pathways are a general tumor formation and progression mechanism.

Next-Generation Sequencing Infertility Panel in Turkey: First Results.

Background: Male infertility is a complex pathophysiological disorder. At least 2000 genes are implicated in the etiology of male infertility, making it a very complex genetic condition. In cases of male infertility, genetic testing using next-generation sequencing (NGS) technology may be useful for diagnosis.

Investigation of TLR4 Polymorphism in Children with Vesicoureteral Reflux and Renal Scarring.

Vesicoureteral reflux (VUR) is an important factor in the etiology of recurrent urinary tract infections (UTIs). Permanent kidney damage may develop in children with high-grade VUR in the long term. This damage may progress with the development of scar tissue in some patients.

Primary cardiac lymphoma presenting with wide QRS tachycardia: a case report.

Background: Lymphomas, which originate from the haematopoietic system, are seldom found in the heart due to the absence of a lymphoid system. Primary cardiac lymphoma is quite rare. Cardiac lymphomas can present with dyspnoea, heart failure, pericardial effusion, and arrhythmia.

Sialolipoma of the Hard Palate in a Child: An Unusual Case and Review of the Literature.

Sialolipoma is a benign lipomatous tumor that occurs in the salivary glands. Sialolipoma of the minor salivary gland is also uncommon in the pediatric population. Here, we present the first reported case of hard palate sialolipoma in a 4-year-old girl.