Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis.

Ataxia with Vitamin E Deficiency (AVED) is a rare autosomal recessive genetic disorder, that caused by pathogenic variants in the TTPA gene, which encodes the alpha-tocopherol transfer protein. This study investigates eight patients from three consanguineous Iranian families, using exome sequencing (ES) and Sanger sequencing to identify novel pathogenic variants in the TTPA gene. Two variants were identified: c.

Exploring influential components and indicators in hospital resilience assessment: a scoping review protocol.

Introduction: Hospitals are vital infrastructures that provide health services during emergencies and disasters. However, in recent years, disasters have led to hospital losses and interruptions in medical services. Consequently, the concept of resilience has garnered significant attention.

Patient flow management in biological events: a scoping review.

Introduction: Biological Events affect large populations depending on transmission potential and propagation. A recent example of a biological event spreading globally is the COVID-19 pandemic, which has had severe effects on the economy, society, and even politics,in addition to its broad occurrence and fatalities. The aim of this scoping review was to look into patient flow management techniques and approaches used globally in biological incidents.

Exploring national and international experiences with community first responder models: protocol for a scoping review.

Introduction: Timely arrival of emergency medical services (EMS) is pivotal for effective prehospital care, and efforts by EMS leaders and policymakers to reduce response times, especially in cardiac arrests responsible for 70%-80% of coronary heart disease-related deaths, underscore the global urgency. With approximately 55 out-of-hospital cardiac arrests per 100 000 people annually, survival rates hinge on timely cardiopulmonary resuscitation, emphasising its initiation within a 4-6 min window. Trauma, causing 6 million deaths and nearly 40 million injuries a year, further underscores the need for prompt prehospital care.

Human error identification and risk assessment in loading and unloading of petroleum products by road trucks using the SHERPA and fuzzy inference system method.

Human error constitutes one of the primary causes of accidents, particularly in the context of loading and unloading operations involving road trucks, especially those carrying petroleum products. The process of identifying and evaluating human errors within these operations involves several key steps. Initially, all sub-tasks associated with loading and unloading are meticulously identified and analyzed utilizing Hierarchical Task Analysis (HTA), achieved through direct observation, document examination, and interviews.

Effectiveness of bimodal stimulation of the auditory-somatosensory system in the treatment of tonal tinnitus.

Background And Objectives: The dorsal cochlear nucleus (DCN) is the interaction site of auditory and somatosensory system inputs. According to the stochastic resonance theory, hearing loss increases the neural activity of the somatosensory system in the DCN and causes tinnitus. it is possible to modulate this neural hyperactivity by applying random noise through the auditory and somatosensory systems (bimodal stimulation).

The Relation of Sleep Characteristics and Cognitive Impairment in Community-Dwelling Middle-Aged and Older Adults: Ardakan Cohort Study on Aging (ACSA).

Introduction: The rise in the elderly population has brought attention to mild cognitive impairment (MCI). Sleep disorders also affect many older adults, indicating an important area of research for disturbed sleep and faster brain aging. This population-based study aimed to investigate the association of several sleep indicators with cognitive performance.

How did we protect children against COVID-19 in Iran? Prevalence of COVID-19 and vaccination in the socio-economic context of COVID-19 epidemic.

Introduction: The COVID-19 pandemic posed significant risks to children worldwide. This study aimed to assess the COVID-19 protection status of children and explored the relationship between household socio-economic status and COVID-19 morbidity and preventive measures, including vaccination and mask-wearing, in two cities in Iran.

Method: A population-based cross-sectional study was conducted from July to October 2022 among 7 to 18-year-old children and their families in Tehran and Karaj.

RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review.

Background: Hypomyelinating leukodystrophy-9 (HLD-9) is caused by biallelic pathogenic variants in RARS1, which codes for the cytoplasmic tRNA synthetase for arginine (ArgRS). This study aims to evaluate the clinical, neuroradiological, and genetic characteristics of patients with RARS1-related disease and determine probable genotype-phenotype relationships.

Methods: We identified three patients with RARS1 homozygous pathogenic variants.

Cross-Cultural Adaptation and Validation of the Persian Version of the M. D. Anderson Dysphagia Inventory.

 Dysphagia is a common issue in patients with head and neck cancer (HNC) and is known to negatively impact their quality of life. To evaluate the impact of dysphagia on the quality of life of HNC patients, the M. D.

Evaluation of Sleep Quality and Related Factors in Community-Dwelling Adults: Ardakan Cohort Study on Aging (ACSA).

Background: Sleep is a necessary physiological process that affects health. The current study aimed to evaluate sleep quality (SQ) and the related factors in Iranian community-dwelling adults. A cross-sectional study.

Evaluation of oral health status in the population above 50: evidence from the ardakan cohort study on aging (ACSA).

Background: The global population is undergoing rapid aging, and older individuals are more susceptible to various health issues, including oral health problems. Despite the increasing attention given to healthy aging, oral health has often been overlooked in discussions related to health problems. This study aims to assess the oral health status of middle-aged and older adults in Iran.

Prevalence and associated factors of mild cognitive impairment among middle-aged and older adults: Results of the first phase of Ardakan Cohort Study on Aging.

Background And Aims: Data on mild cognitive impairment (MCI) in low- to middle-income countries are still being determined, despite the fact that most future older adults are expected to reside in these regions. This study aimed to investigate the prevalence and associated factors of MCI in Iran.

Methods: A cross-sectional study was conducted on 4938 community-dwelling subjects aged 50 years or above in the first wave of the Ardakan Cohort Study on Aging.

Prevalence, Complications, and Risk Factors of Falls and Fear of Falling Among Older Adults; Based on Ardakan Cohort Study on Aging (ACSA).

Introduction: The objective of this study was to assess the prevalence of falls, fear of falling (FOF), complications arising from falls, and identify possible sociodemographic and health-related factors associated with these outcomes among older adults.

Methods: This cross-sectional study was based on the first wave of the Ardakan Cohort Study on Aging (ACSA), which includes participants over 50 years of age residing in Ardakan, Iran. Fall history, number of fall events, FOF, hospitalizations, and fractures in the past 12 months were assessed through a face-to-face interview.

Discriminative features in White-Sutton syndrome: literature review and first report in Iran.

White-Sutton Syndrome is one of the rare neurodevelopmental disorder inherited in an autosomal dominant manner, mainly caused by de novo mutations in the POGZ gene and shows many phenotypic signs such as intellectual disability, Autism Spectrum Disorder and other spectra. About 70 patients with this syndrome have been reported worldwide. In this paper, we have described different phenotypic features of the White-Sutton Syndrome with a brief review of recent literatures.

The Role of Childhood Circumstances on Social Conditions and Health of Middle-Aged and Older Adults: Ardakan Cohort Study on Aging (ACSA).

Some studies suggest that childhood can affect some later outcomes. This cross-sectional study of the first phase of the Ardakan Cohort Study on Aging (ACSA) on 5,197 individuals examined the effects of childhood socioeconomic and health on aging well. Childhood socioeconomic status (SES) was measured using parents' education and self-expressed family's financial status.

The Association of Social Support, Depression, and Loneliness with Health-Related Quality of Life in Over 50 Years Adults: Ardakan Cohort Study on Ageing (ACSA).

Background And Aim: Social factors play a crucial role in the quality of life of + 50 adults. This study aimed to investigate the association between social support, depression, and loneliness and the health-related quality of life in + 50 adults of Ardakan.

Methods: This was a cross-sectional study from the first phase of Ardakan Cohort Study on Aging (ACSA) in 2019.

Systematic scoping review protocol of Stroke Patient and Stakeholder Engagement (SPSE).

This protocol describes a systematic scoping review of Stroke Patient and Stakeholder Engagement (SPSE), concepts, definitions, models, implementation strategies, indicators, or frameworks. The active engagement of patients and other stakeholders is increasingly acknowledged as essential to patient-centered research to answer questions of importance to patients and their caregivers. Stroke is a debilitating, long-lasting burden for individuals, their families, and healthcare professionals.

Demethylation of CDKN2A in systemic lupus erythematosus and rheumatoid arthritis: a blood biomarker for diagnosis and assessment of disease activity.

Introduction/objectives: Considering the phenotypic and serological heterogeneity of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA), significant challenges may intervene with the precise diagnosis. In this regard, numerous studies have shown that changes in DNA methylation levels can be used to distinguish between healthy individuals and those with SLE and RA, as well as to predict disease activity and prognosis.

Methods: In the current study, we evaluated quantitative methylation level of CDKN2A promoter in peripheral blood mononuclear cells (PBMCs) of SLE and RA patients, and healthy controls by methylation-quantification of endonuclease-resistant DNA (MethyQESD), a bisulfite conversion-independent method.

Custom-Made Ethyl Vinyl Acetate Insoles with Arch Support Could Improve Static Balance in Diabetic Women with Neuropathic Foot.

Background: Individuals with diabetic neuropathy may experience plantar ulcers and postural instability. Although use of an insole with arch support has the potential to decrease the incidence of plantar ulcers, the choice of proper design and material density concerning postural stability is challenging. The objective of this pilot study was to conduct a preliminary evaluation of the immediate effects of custom-made ethyl vinyl acetate insoles with arch support and Shore A values of 30 or 50 on static balance in patients with diabetes and neuropathic foot/feet.

Prevalence of externalising disorder comorbidities in adolescents: a systematic review and meta-analysis protocol.

Introduction: Externalising disorders are some of the most prevalent problems in childhood and particularly during adolescence that can change into more severe psychopathology in adulthood if left unattended. In the research literature, these disorders include attention deficit/hyperactivity disorder, oppositional/defiant disorder, conduct disorder and substance use disorders. The comorbidity prevalence of these disorders is significant and cannot be considered a random factor.