Exploring the Genetic Landscape of Knobloch Syndrome: Novel Variant Identification and Literature Review
Abstract
961 5759
Exploring the Genetic Landscape of Knobloch Syndrome: Novel Variant Identification and Literature Reviewby
Abstract
Knobloch Syndrome (KS) is a rare genetic disorder characterized by ocular abnormalities and central nervous system (CNS) defects, which are attributed to collagenopathy. The primary gene implicated in KS is COL18A1, which encodes the alpha chain of type XVIII collagen. This type of collagen functions as a proteoglycan, predominantly located in the basement membrane of human tissues. This study examined an Iranian female presenting with symptoms of horizontal nystagmus, strabismus, and suspected vision loss, with a [...] 961 5759 |
Experiences and Support Needs of Informal Caregivers in Managing Behavioral Symptom of DementiaAbstract
About 90% of people living with Alzheimer's disease and related dementias experience behavioral and psychological symptoms during the course of the disorder. Although extensive research exists on the roles of informal caregivers in dementia care, their abilities to manage behavioral symptoms and the resources they turn to for support remain understudied. This phenomenological study explored informal caregivers' experience, knowledge sources, and self-initiated strategies for managing behavioral symptoms of dementia [...] 921 4745 |
Assessment of the Main Elements for a Healthcare Waste Management System Using Analytical Hierarchical Processby
Abstract
When addressing Healthcare Waste Management (HCWM), numerous factors play a crucial role in ensuring its safety and environmentally responsible handling within institutional processes. Recognizing this imperative, this study employed the Analytical Hierarchical Process (AHP) methodology to establish a comprehensive assessment of 10 primary criteria and 66 sub-criteria concerning the governance and operational aspects of Healthcare Waste Management. This evaluation was based on the insights of 14 specialists in the [...] 1163 6878 |
Unraveling the Involvement of Serotonergic 5-Hydroxytryptamine Receptor-6 Activation in Chronic Pain: A Narrative Reviewby
Abstract
Chronic pain is a significant and global healthcare issue that hugely implies the quality of life and productivity of the affected individuals. It is challenging to treat and thus necessitates a deeper understanding of its underlying pathomechanisms to develop targeted interventions. Serotonin is one of the essential neurotransmitters involved in the propagation of pain signals through both ascending and descending pathways, acting via various receptor subtypes, including the 5-hydroxytryptamine receptor-6 (5-HT6R) [...] 1253 6127 |
When Immunity Falls Short: Meningoencephalitis Despite Vaccination - A Case ReportAbstract
Varicella-zoster virus (VZV) significantly impacts the central and peripheral nervous systems, particularly in immunocompromised individuals. This case report details a rare presentation of VZV meningoencephalitis in a 42-year-old woman with interstitial lung disease and connective tissue disease undergoing lung transplant evaluation who presented with a thunderclap headache and a new-onset seizure. Despite normal initial MRI findings, further investigation with PCR of the cerebrospinal fluid (CSF) revealed the pre [...] 789 4056 |
The Crucial Role of Vitamin D in Regulating Gut Microbiota in Inflammatory Bowel DiseaseAbstract
In recent years, there has been an alarming increase in the incidence of inflammatory bowel disease (IBD), which includes both Crohn's disease (CD) and ulcerative colitis (UC), particularly in Western countries. This chronic condition is intricately linked to the composition and health of the gut microbiota (GM) — a complex community of microorganisms residing in the gastrointestinal (GI) tract. Despite extensive research, the underlying pathogenesis of IBD remains poorly understood, making it a wide area of invest [...] 1157 7812 |
Household Exposure to Secondhand Cigarette Smoke during Pregnancy and Adverse Offspring Health Outcomes in The Gambia: A Cross-Sectional Studyby
Abstract
The adverse effects of maternal passive smoking during pregnancy on offspring health remain understudied in sub-Saharan Africa, particularly in The Gambia, where smoke-free regulations are limited. To determine the prevalence of maternal passive smoking (MPS) during pregnancy and investigate its associations with adverse pregnancy outcomes and offspring health complications in The Gambia. A cross-sectional study was conducted in February 2023 among 401 mothers with children under 5 years in urban and rural regions [...] 1435 8090 |
Sustainable Alternatives for Energy Generation and Food Production in Brazilby
Abstract
Urbanization driven by industrialization and population growth amplifies food consumption and reinforces the need for more fuels and energy. However, the expansion of biofuels can impose risks on long-term food security. This paper examines potential alternative crops for energy generation and food production, including those used by family farmers and their associations, to decentralize energy production and utilization as a crucial pillar of the global energy transition. Cassava, corn, and sugar beet are the chos [...] 1591 9294 |
Teachers on Self-CareAbstract
Teachers face at-work risk factors including compassion fatigue, burnout, dealing with violence, and a teacher shortage. A review of the literature shows that self-care can have positive benefits that mitigate and help to buffer these at-work risk factors This study examines teachers’ stories of self-care. The data suggests that self-care is a positive practice for teachers professionally and personally. 867 8249 |
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