Two remarkable cases of haploinsufficiency found in the DYRK1A gene.

Introduction: DYRK1A syndrome, also known as "Intellectual developmental disorder, autosomal dominant 7," is a syndromic intellectual disability characterized by dysmorphic features including deep-set eyes, prominent ears, and retrognathia. Patients have neurodevelopmental problems, ocular anomalies, and multisystem phenotypes. Most cases result from single nucleotide variants causing DYRK1A-haploinsufficiency, while deletions occur in < 15% of cases.

Improved liver fat and quantification at 0.55 T using locally low-rank denoising.

Purpose: To improve liver proton density fat fraction (PDFF) and quantification at 0.55 T by systematically validating the acquisition parameter choices and investigating the performance of locally low-rank denoising methods.

Methods: A Monte Carlo simulation was conducted to design a protocol for PDFF and mapping at 0.

Exploring the Relationship Between Cyberbullying and Technology Addiction in Adolescents.

Objective: The present study aims to investigate the relationship between cyberbullying/victimization and technology addiction among Turkish adolescents.

Design And Methods: A descriptive cross-sectional study was conducted with 572 adolescents between the ages of 14 and 18. The study employed the Bullying and Cyber Bullying Scale for Adolescents (BCS-A) to evaluate cyber victimization (BCS-A VCSs) and cyberbullying (BCS-A BCSs) subdimensions, in conjunction with the Technology Addiction Scale (TAS).

The Effects of Acupressure on Preoperative Anxiety, Postoperative Pain, and Nausea and Vomiting in Otolaryngology Patients.

Purpose: Surgical patients frequently experience symptoms such as preoperative anxiety, postoperative pain, and nausea and vomiting. The aim of this study was to determine the effects of acupressure on preoperative anxiety, postoperative pain, and nausea and vomiting in otolaryngology patients.

Design: The study was designed as a prospective, assessor-blinded, parallel, 2-armed (1:1), randomized controlled trial.

Assessing osteoporosis awareness and knowledge levels of Turkish multiple sclerosis patients: an observational study.

Unlabelled: This study assessed osteoporosis knowledge and awareness among multiple sclerosis patients. The findings reveal a concerning lack of knowledge and awareness regarding osteoporosis, emphasizing the necessity for educational interventions to enhance early detection and mitigate complications within this particular patient group.

Aim: To assess the knowledge and awareness of osteoporosis in Turkish multiple sclerosis (MS) patients.

Innovative Mitral Valve Repair Using a Novel Automated Suturing System: Preliminary Data.

(1) Mitral regurgitation is a common valve disease requiring surgical repair. Even with satisfactory results, repair techniques may underlie subjectivity and variability and require long learning curves. A novel approach, the "Roman Arch" technique, may ease the technical burden.

Modified Clover Technique Using Automated Suture Placement and Securing Technology in a Passive Beating Heart Model.

Tricuspid regurgitation (TR) is a prevalent finding in echocardiography and in case of severe disease is associated with impaired patient outcome. Clover repair offers a surgical solution that can be applied for the treatment of primary and secondary TR. An ex vivo passive beating porcine heart model was created to test a modified clover technique using automated suturing devices and to compare this approach to standard ring annuloplasty.

Improved abdominal T1 weighted imaging at 0.55T.

Purpose: Breath-held fat-suppressed volumetric T1-weighted MRI is an important and widely-used technique for evaluating the abdomen. Both fat-saturation and Dixon-based fat-suppression methods are used at conventional field strengths; however, both have challenges at lower field strengths (<1.5T) due to insufficient fat suppression and/or inadequate resolution.

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature.

Background: Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that results in the abnormal development of structures derived from ectodermal tissue. This rare condition predominantly affects the hair, nails, eccrine glands, and teeth. While HED can be caused by various genes, the EDA, EDAR, EDARADD, and WNT10A genes account for approximately 90% of cases.

The effect of video-assisted training on upper extremity problems and functions after rotator cuff repair: a randomized controlled trial.

Background/aim: The shoulder is the most mobile joint in the body, and is frequently exposed to injuries. The applied surgical treatments, protection of the shoulder after surgery, care in the use of the shoulder in activities of daily living (ADLs) and gradual exercise programs are all vital to the recovery process. The present study investigates the effect of video-assisted training (VAT) on upper extremity complications and functions after rotator cuff repair (RCR).

Baseline Characteristics of a Patient Cohort and Predictors of In-hospital MORtality in CORonary Care Units (MORCOR-TURK) Trial in Türkiye.

Objective: The MORtality in CORonary Care Units in Türkiye (MORCOR-TURK) trial is a national registry evaluating predictors and rates of in-hospital mortality in coronary care unit (CCU) patients in Türkiye. This report describes the baseline demographic characteristics of patients recruited for the MORCOR-TURK trial.

Methods: The study is a multicenter, cross-sectional, prospective national registry that included 50 centers capable of 24-hour CCU service, selected from all seven geographic regions of Türkiye.

Validity and Reliability of the Turkish Version of Mild Behavioral Impairment Checklist in Patients With Cognitive Impairment.

Background And Objective: The Mild Behavioral Impairment-Checklist (MBI-C) was developed to detect and standardize neuropsychiatric symptoms. The objective of this study was to evaluate the Turkish adaptation, validity, and reliability of the MBI-C.

Methods: The sample of our study consisted of 80 patients with cognitive impairment and a control group with 113 participants whose cognitive impairment was not detected in standard tests.

Exploring shared triggers and potential etiopathogenesis between migraine and idiopathic/genetic epilepsy: Insights from a multicenter tertiary-based study.

Introduction: Migraine and epilepsy are two episodic disorders that share common pathophysiological mechanisms. The aim of our research was to assess the possible shared etiopathogenesis by analyzing the relations of headache, and seizure triggers, based on information obtained from a national cohort surveying the headache characteristics of 809 patients who had been diagnosed with idiopathic/genetic epilepsy.

Material And Methods: Our study utilized data from a multi-center, nationwide investigation of headaches in 809 patients with idiopathic/genetic epilepsy.

Is Mediolateral Translation of Femur Caused by Total Knee Arthroplasty Being Ignored?

Purpose: This study aims to show the change in overall congruency due to mediolateral translation after total knee arthroplasty compared with normal knee anatomy.

Methods: This study was performed in two parts. In part 1, the relationship between femur and tibia was defined by new parameters on the antero-posterior radiographs of 84 patients.

Assessing autonomic activity and prognostic risk factors comparing multisystem inflammatory syndrome and isolated viral myocarditis/myopericarditis.

Introduction And Aim: In pediatric multisystem inflammatory syndrome and isolated viral myocarditis/myopericarditis, autonomic nervous system function can be evaluated by a non-invasive method called heart rate variability. This study aims to evaluate heart rate variability in these two groups by comparing them with each other. This is the first study assessing these values in these two groups of patients.

Migraine - a borderland disease to epilepsy: near it but not of it.

Background: Migraine and epilepsy are two paroxysmal chronic neurological disorders affecting a high number of individuals and being responsible for a high individual and socioeconomic burden. The link between these disorders has been of interest for decades and innovations concerning diagnosing and treatment enable new insights into their relationship.

Findings: Although appearing to be distinct at first glance, both diseases exhibit a noteworthy comorbidity, shared pathophysiological pathways, and significant overlaps in characteristics like clinical manifestation or prophylactic treatment.

Mild Cognitive Impairment Progression and Alzheimer's Disease Risk: A Comprehensive Analysis of 3553 Cases over 203 Months.

This study aimed to elucidate the long-term progression of mild cognitive impairment (MCI) within a comprehensive longitudinal dataset, distinguish it from healthy aging, explore the influence of a dementia subtype on this progression, and identify potential contributing factors. Patients with prodromal and preclinical cases underwent regular neuropsychological assessments utilizing various tools. The study included a total of 140 participants with MCI, categorized into Alzheimer's disease (AD) and non-AD subtypes.

Autonomic activity and cardiovascular system risk assessment in pediatric patients with hemolytic uremic syndrome.

In pediatric patients with hemolytic uremic syndrome (HUS), cardiac involvement and autonomic nervous system function can be evaluated by a non-invasive method called heart rate variability (HRV). This study aims to evaluate heart rate variability and electrocardiography findings in patients with HUS by comparing a healthy group. Patients who are diagnosed with HUS at a university hospital from December 2020 to June 2022 are screened by electrocardiography (ECG), echocardiography, and 24-h Holter ECG.

Early intervention and adding effective doses of EGb761 like extract slow down dementia progression: insights to the neurovascular unit.

Background: Dementia is a progressive neurodegenerative disorder characterized by cognitive decline, memory impairment, and functional deterioration. Pharmacological interventions play a crucial role in managing dementia symptoms and potentially slowing down disease progression.

Objectives: This study aimed to investigate the impact of pharmacological interventions, including acetylcholinesterase inhibitors (AChEIs), memantine, and extract, on the progression of dementia, with a specific focus on mild cognitive impairment (MCI), Alzheimer's disease (AD), and non-Alzheimer dementias.

Paediatric nurses' experiences of success and failure in first-time peripheral intravenous catheter insertion: A qualitative study.

Purpose: To explore in-depth the thoughts, anxiety factors, and experiences of paediatric nurses regarding the success and failure of first-time peripheral intravenous catheter insertion.

Design And Methods: The study employed a qualitative research method using the phenomenology design. Face-to-face semi-structured in-depth interviews were conducted with nurses (N = 12) working in the paediatric service and neonatal intensive care unit of a teaching and research hospital.