EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.

Novel smart materials with high curie temperatures: EuDyGeO, EuLaGeO and EuHoGeO.

The EuDyGeO, EuLaGeO and EuHoGeO powder were obtained through a solid-state reaction method via multistep firing of stoichiometric ratios of EuO, GeO, DyO, LaO and HoO in open atmosphere at temperatures from 800 to 1150 °C. The thermal behaviour, phase formation, SEM/EDX analysis, photoluminescence properties, Curie tempereture, dielectric and piezoelectric properties of the samples were investigated by TG/DTA, XRD, SEM, PL, TG/DTA, LCR-meter and d-meter, respectively. The germenates having triclinic crystal system have D→F, D→F, D→F, D→F transitions of Eu ions.

Comparative analysis of long versus short co-incubation of gametes on post-insemination outcomes and embryo morphokinetics.

Research Question: Does a short co-incubation of gametes in conventional IVF affect post-insemination outcomes and embryo morphokinetics?

Design: Sibling oocyte randomized pilot study conducted between December 2020 and March 2023. Eligible couples (n = 55) were women aged 18-43 years with BMI 35 km/m or lower and male normal semen parameters. Cumulus oocyte complexes (COC) (six to 12) were randomized in a 1:1:2 proportion in long (16-18 h) or short (2 h) co-incubation IVF exposure and ICSI, respectively.

Impacts of microplastic accumulation in aquatic environment: Physiological, eco-toxicological, immunological, and neurotoxic effects.

The presence of microplastics (MPs) in aquatic ecosystem has become a pressing global concern. MPs pose a significant threat to aquatic ecosystems, with devastating consequences for both aquatic life and human health. Notably, freshwater ecosystems are particularly vulnerable to MPs pollution.

Factors affecting behaviors during complementary feeding in infants and children aged 6-24 months.

The process that begins around the 6th month of life and continues until the 24th month is called the complementary feeding period. During this period, infants and children start receiving foods that complement breast milk or formula for the first time. The psychosocial factors the infants and children encounter during this period may affect their growth and health in later life.

Spontaneously regressing mass-like soft tissue involvement in a child with chronic non-bacterial osteomyelitis: case-based review.

Chronic non-bacterial osteomyelitis (CNO) is an inflammatory bone disease, usually diagnosed in childhood. It is characterized by the presence of multifocal or unifocal osteolytic lesions that can cause bone pain and soft tissue swelling. CNO is known to have soft tissue involvement.

Conservative management of pediatric pineal cyst apoplexy: a case report and literature review.

A 5-month-old male patient presented with obstructive hydrocephalus caused by pineal cyst apoplexy. Ventriculoperitoneal shunt surgery was performed for hydrocephalus treatment. During follow-up, spontaneous shrinkage of the cyst was observed.

Basic Science and Pathogenesis.

Background: The Cognitive Function Index (CFI) is a validated test used to assess changes in self-perceived cognitive and functional status as reported by an individual and their study partner. Previous studies have demonstrated an inverse correlation between higher amyloid-beta (Aβ) burden and CFI, with certain CFI items exhibiting stronger associations than others. However, there is limited understanding of the association between declines in cognition and function, as assessed by CFI, and Tau levels measured by PET.

Basic Science and Pathogenesis.

Background: Huntington's disease (HD) is a progressive neurodegenerative disorder phenotypically manifested by motor, cognitive and psychiatric symptoms (Novak and Tabrizi, 2011). These patients are also characterized by vigilance abnormalities. This has been demonstrated by electrophysiological measures (Wiegand et al.

Basic Science and Pathogenesis.

Background: Astrocytes secrete neuromodulators, neurohormones, trophic factors, and synaptogenesis modulators. Trophic factors regulate various cellular processes including synaptic transmission. Astrocytes have critical roles in synaptic development and plasticity.

Basic Science and Pathogenesis.

Background: Parkinson's disease and Huntington's disease are both neurodegenerative conditions involving the basal ganglia area of the brain. Both conditions can cause symptoms that affect movement. Cognitive decline or dementia can also occur in both.

Anatomic Changes of Patients With Obstructive Sleep Apnea Syndrome at Different Stages.

Aim: In this study, it was aimed to determine the changes in the anatomic structures of individuals with obstructive sleep apnea syndrome (OSAS) classified according to the apnea-hypopnea index (AHI).

Materials And Methods: Individuals were divided into groups as group 1 (AHI=0, n=20), group 2 (AHI ˂5, n=20), group 3 (AHI=5-15, n=20), group 4 (AHI=16-30, n=20), group 5 (AHI ˃30, n=20). The individuals left lateral cervical vertebra radiographs were taken.

Clinical Manifestations.

Background: Valosin Containing Protein (VCP) mutations are responsible some genetic etiologies of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

Method: A 67-year-old, male patient, applied to the clinic due to behavioral changes and difficulty swallowing. According the patient history it was reported that his first complaint started 6 years ago (at the age of 61).

R(3780) Resonance Interpreted as the 1^{3}D_{1}-Wave Dominant State of Charmonium from Precise Measurements of the Cross Section of e^{+}e^{-}→Hadrons.

We report the precise measurements of the cross section of e^{+}e^{-}→hadrons at center-of-mass energies from 3.645 to 3.871 GeV.

Clinical Manifestations.

Background: Emerging technologies paves the way for the development of novel cognitive assessment approaches. Virtual reality (VR) has high ecological validity, increases participant engagement, and allows the assessment of functions that are challenging to evaluate with traditional methods. The present study aimed to validate a novel cognitive assessment tool and investigate the effects of demographical variables.

Exploring Rehabilitation Protocols for Primary Anterior Cruciate Ligament Repair: Insights from a Scoping Review.

Objectives: The primary repair of the anterior cruciate ligament (ACL) has re-emerged as a treatment for acute ruptures. While numerous studies have investigated rehabilitation after ACL reconstruction, few have focused on primary repair. We aimed to describe the rehabilitation protocols for primary ACL repair, and to identify knowledge gaps and differences between primary ACL repair and reconstruction.

Forehead Lift With Cross-Frontal Scalp Anchorage.

Background: Over the past decade, facial aesthetics has gained popularity, with a notable increase in upper-face lift procedures. Despite the popularity of brows and forehead lifts, the optimal fixation technique remains controversial. Common methods involve suturing of the temporal fascia or using monocortical miniscrews anchored to the frontal bone.

The Roles of Interpersonal and Intrapersonal Emotion Regulation on Psychological Distress: A Longitudinal Panel Study.

The present study was designed to test the hypothesis that interpersonal emotion regulation leads to increased difficulties in intrapersonal emotion regulation, which in turn, leads to general psychological distress utilizing a three-wave cross-lagged panel design. Undergraduate students rated self-report measurements of interpersonal emotion regulation, difficulties in intrapersonal emotion regulation, and psychological distress at baseline (T1, N = 369) and two follow-up waves (T2 and T3), each separated by 3 months. The results indicated that although some lagged correlations between interpersonal emotion regulation strategies and difficulties in intrapersonal emotion regulation were significant, interpersonal emotion regulation strategies did not prospectively predict difficulties in intrapersonal emotion regulation.

Cryptosporidiosis as an opportunistic infection in colorectal cancer patients.

Cryptosporidium spp. is an opportunistic protozoan parasite that primarily affects immunocompromised individuals, including those with colorectal cancer (CRC). This study investigates the prevalence and clinical significance of Cryptosporidium spp.

Adaptation of the Disaster Literacy Scale to Individuals Aged 60 Years and Older and Exploring its Psychometric Properties.

Objectives: This methodological study aimed to adapt the DLS, introduced for individuals aged 18-60 years, to those aged 60 years and older and to determine its psychometric properties.

Methods: We collected the data between December 15, 2021 and April 18, 2022. We carried out the study with a sample of 60 years and older living in the city center of Burdur, Turkey.

The Investigation of Quality of Life and Post-traumatic Stress Disorder Levels of Midwifery Students Experiencing an Earthquake.

Objectives: The knowledge of students' quality of life and post-traumatic stress disorder levels, investigation of the relationship between them, and taking measures are essential in terms of guiding the necessary interventions. This study was conducted to determine the quality of life and post-traumatic stress disorder levels of midwifery students experiencing an earthquake.

Methods: This descriptive and correlational study was conducted with 363 midwifery students who had experienced the Kahramanmaras, Türkiye earthquake.

Psychometric evaluation and clinical compatibility of the Turkish version of the Children Participation Questionnaire (CPQ-T).

The aim of this study was to adapt the Children Participation Questionnaire (CPQ) into Turkish culture and evaluate its psychometric properties in typically developing children aged 4-6 years. This study involved 235 typically developing children and 61 children with autism spectrum disorder (ASD). Parents completed the Turkish CPQ (CPQ-T) and demographic form.