Variant-specific effects of GBA1 mutations on dopaminergic neuron proteostasis.

Glucocerebrosidase 1 (GBA1) mutations are the most important genetic risk factors for Parkinson's disease (PD). Clinically, mild (e.g.

Investigating the Therapeutics Effects of Oral Cavity Derived Stem Cells on Neurodegenerative Diseases: A Systematic Review.

Introduction: Published data obtained from in vitro and in vivo studies was reviewed systematically and analyzed critically to evaluate the effect of oral cavity-derived stem cells (OCDSCs) on the recovery or therapy of neurodegenerative diseases (NDs), such as Alzheimer disease (AD), amyotrophic lateral sclerosis (ALS), Huntington (HD) diseases, and Parkinson disease (PD).

Methods: An electronic search was accomplished. References of included articles were also manually searched.

Validity and Reliability Study of the Prolonged Grief Disorder- Caregiver Turkish Form.

Objective: The aim of this study was to adapt the Prolonged Grief Disorder - Caregiver Form (PG-12), which is used to measure grief symptoms of caregivers providing care to their relatives with a chronic diseases that cause functional disability to Turkish and to investigate its psychometric properties. We also aimed to investigate the prevalence of prolonged grief disorder in the caregiver sample.

Method: The sample consisted of 120 adult participants (70.

Body weight modulates the impact of oxytocin on chronic cold-immobilization stress response.

By activating the stress system, stress modulates various physiological parameters including food intake, energy consumption, and, consequently, body weight. The role of oxytocin in the regulation of stress and obesity cannot be disregarded. Based on these findings, we aimed to investigate the effect of intranasal oxytocin on stress response in high-fat-diet (HFD)--fed and control-diet-fed rats exposed to chronic stress.

Firstly electrochemical investigetions and determination of anticoagulant drug edoxaban at single-use pencil graphite electrode: an eco-friendly and cost effective voltammetric method.

Objectives: The anticoagulant drug edoxaban has a blood thinning mechanism of action. In this study, a pencil graphite electrode was electrochemically activated at + 1.4 V for 60 s.

Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p.R450C) in the RHOT1 gene encoding Miro1.

Fibroblasts from two Parkinson's disease (PD) patients carrying either the heterozygous mutation c.815G > A (Miro1 p.R272Q) or c.

Investigation of cognitive functions in children with bone tumours and lymphoma in treatment process.

Background: Neurocognitive sequelae are among the most debilitating effects of cancer observed in children. Yet we know very little about the impact on neurocognitive functioning, especially cancer types that develop outside the central nervous system. This study aimed to assess and compare the cognitive functions (CoF) of children with bone tumours and lymphoma in the treatment process.

The Resilience Scale for Parents of Children with Cancer: Scale development and psychometric evaluation.

Objective: This study aimed to develop a Resilience Scale for Parents of Children with Cancer (RSP-CC) designed specifically for parents of children with cancer and to evaluate its psychometric properties.

Methods: Based on the Resilience Model for Families of Children with Cancer, items were created after an extensive literature review and evaluated through expert consultation and a pilot study. Psychometric evaluation was conducted with the parents of 601 children with cancer in the pediatric hematology oncology services of different hospitals in the Ankara and Kayseri provinces in Turkey.

Generation and characterization of a genetic Parkinson's disease-patient derived iPSC line DJ-1-delP (LCSBi008-A).

Here, we describe an induced pluripotent stem cell (iPSC) line that was derived from fibroblasts obtained from a monogenic Parkinson's disease (PD) patient. The disease was caused by a c.634-636delGCC mutation in the PARK7 gene leading to p.

Splenic Gaucheroma Leading to Incidental Diagnosis of Gaucher Disease in a 46-Year-Old Man with a Rare GBA Mutation: A Case Report.

Background: Gaucher disease is a common lysosomal storage disease caused by the deficiency of the β-glucosidase enzyme, leading to sphingolipid accumulation in the reticuloendothelial system in Gaucher cells. Clinical findings are quite variable and some patients may remain asymptomatic lifelong. However, even when patients have mild symptoms, there is a significant increase in their quality of life with enzyme replacement therapy.

Evaluation of the Design and Methodology of Applications to the Local Ethics Committee.

Objectives: Proposals for scientific studies must have an original hypothesis and the appropriate design and methodology to test the premise.

Methods: This study is an evaluation of the suitability of applications submitted to a local ethics committee (EC) and the rate of publication of that research.

Results: A total of 899 files submitted for EC approval were retrospectively assessed.

Odonto/Osteogenic Differentiation of Dental Pulp Stem Cells of Type 1 Diabetic Patients with Mineral Trioxide Aggregate/1α,25-Dihydroxyvitamin D3 Combination.

Introduction: Vitamin D3 plays an important role in the mineralization mechanism and is often deficient in diabetic patients. The objective of this study was to investigate the odonto/osteogenic differentiation potential of the combination of mineral trioxide aggregate (MTA)/1α,25-dihydroxyvitamin D3 (VD3) on dental pulp stem cells (DPSCs) of patients with type 1 diabetes mellitus (T1DM).

Methods: DPSCs isolated from donors (control and T1DM) were cultured and characterized.

Electrochemical evaluation of the desloratadine at bismuth film electrode in the presence of cationic surfactant: Highly sensitive determination in pharmaceuticals and human urine by Linear sweep-cathodic stripping voltammetry.

In this study, the electrochemical properties of desloratadine, which is in the second generation antihistamines group, were determined by bismuth film electrode (BiFE) in aqueous and aqueous/surfactant solutions. This compound gave an irreversible and diffusion-controlled reduction peak at about -1.65 V by cyclic voltammetry.

How Has the Occupational Performance and Participation Levels of Children with Cancer Changed during the COVID-19 Pandemic?

To examine how the occupational performance (OP) and participation levels of children with cancer changed during the COVID-19 pandemic. Sixty-seven children with cancer (aged 6-12 years) completed the Canadian Occupational Performance Measure by giving information about their OP and participation, and their parents completed the Child and Adolescent Scale of Participation via online interview techniques. Evaluations were repeated twice in April and September 2020 to determine the change in OP and participation levels of children with cancer due to the COVID-19.

Quality of life and occupational performance of children with cancer in the era of the COVID-19 pandemic in terms of rehabilitation.

Purpose: This study was designed to determine the changes in the quality of life (QOL) and occupational performance of children with cancer and to examine their rehabilitation needs during the pandemic period in Turkey.

Methods: 60 children with cancer and their families participated in the study. The first and second assessments were carried out in April and September 2020, respectively.

Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients.

Background: Autosomal Recessive Congenital Ichthyosis (ARCI) is a group of epidermal keratinization disorders. One of the disease-associated proteins, patatin-like phospholipase domain-containing protein-1 (PNPLA1), plays a key role in the epidermal omega-O-acylceramide synthesis and localizes on the surface of lipid droplets (LDs).

Objective: Previously, routine clinical test results showed abnormal LD accumulation in blood smear samples of our ARCI patients with PNPLA1 mutations.

Simultaneous Electrochemical Evaluation of Ascorbic Acid, Epinephrine and Uric Acid at Disposable Pencil Graphite Electrode: Highly Sensitive Determination in Pharmaceuticals and Biological Liquids by Differential Pulse Voltammetry.

Aim And Objective: As is known, AA, EP and UA can also coexist in biological fluids. Therefore, the determination of the levels of these compounds in biological fluids is extremely important both for the diagnosis and treatment of the related diseases. In the presence of many interfering substances in biological fluids such as blood and urine samples, it is very important that these compounds can be selectively analyzed.

Lipid Droplets in Health and Disease.

Lipids are essential building blocks synthesized by complex molecular pathways and deposited as lipid droplets (LDs) in cells. LDs are evolutionary conserved organelles found in almost all organisms, from bacteria to mammals. They are composed of a hydrophobic neutral lipid core surrounding by a phospholipid monolayer membrane with various decorating proteins.

Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis.

Dökmeci-Emre S, Taşkıran ZE, Yüzbaşıoğlu A, Önal G, Akarsu AN, Karaduman A, Özgüç M. Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis. Turk J Pediatr 2017; 59: 475-482.

For what reasons do patients file a complaint? A retrospective study on patient rights units' registries.

Background: In 2004, Patient Rights Units were established in all public hospitals in Turkey to allow patients to voice their complaints about services.

Aims: To determine what violations are reflected into the complaint mechanism, the pattern over time, and patients' expectations of the services.

Study Design: Descriptive study.

Determination of trace metals by atomic absorption spectrometry after coprecipitation with europium hydroxide.

A procedure for the determination of trace amounts of chromium(III), iron(III), lead(II) and manganese(II) is described, that combines atomic absorption spectrometry-europium hydroxide coprecipitation. The influences of analytical parameters including amount of europium(III), amount of ammonia, sample volume, etc. were investigated on the recoveries of analyte ions.