3 research outputs found

    Generalized pustular psoriasis in a toddler with IL36RN mutation: a case report

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    Generalized Pustular Psoriasis (GPP) is a dermatological autoinflammatory disease that rarely occurs in children and is associated with complex genetic factors. GPP pathogenesis has been associated with mutations in IL36RN gene, which encodes an interleukin-36 receptor antagonist. GPP usually occurs without a history of psoriasis in the patients or their family members. This case report describes the clinical course of a 3-year-old toddler with GPP. The diagnosis of GPP was confirmed through a comprehensive series of examinations, and genetic testing revealed an IL36RN mutation, providing further insight into the genetic basis of the condition. This case highlights the importance of a genetic perspective for diagnosing GPP, particularly in children

    Cerebrospinal fluid microRNAs as potential biomarkers in Alzheimer’s disease

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    Alzheimer’s disease (AD) is the leading form of dementia worldwide, but its early detection and diagnosis remain a challenge. MicroRNAs (miRNAs) are a group of small endogenous RNA molecules that regulate mRNA expression. Recent evidence suggests miRNAs play an important role in the five major hallmarks of AD pathophysiology: amyloidogenesis, tauopathy, neuroinflammation, synaptic dysfunction, and neuronal death. Compared to traditional biomarkers of AD, miRNAs display a greater degree of stability in cerebrospinal fluid. Moreover, aberrant changes in miRNA expression can be measured over time to monitor and guide patient treatment. Specific miRNA profiles and combinations may also be used to distinguish AD subjects from normal controls and other causes of dementia. Because of these properties, miRNAs are now being considered as promising and potential biomarkers of AD. This review comprehensively summarizes the diagnostic potential and regulatory roles miRNAs play in AD

    Motivators and barriers to research participation among medical students in Saudi Arabia.

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    Little is known about the obstacles medical students face when conducting research in Saudi Arabia. Moreover, the proportion of medical students in research has been unknown in our region compared to other regions. We sought to identify the barriers and motivators that influence undergraduate medical students in pursuing research. This was a cross-sectional study design, utilizing an online survey distributed through social media platforms from the 17th of December 2021 to the 8th of April 2022. The survey was distributed to four universities in Saudi Arabia. Participants' characteristics, details regarding involvement in research, and attitude towards research were collected. Frequency measures were used to characterize the demographics and chi-squared tests to determine associations. A total of 435 students were included in the final analysis. The highest proportion of students that responded were second year, followed by first year medical students. Less than half (47.6%) of medical students were involved in research. A significant correlation was revealed between the involvement in research and higher participants' Grade Point Average (GPA). The top three incentives for pursuing undergraduate research were "admission into residency programs" (44.8%), "interest in research" (28.7%), and "financial return" (10.8%). However, the top three limitations were "lack of time" (29.2%), "lack of mentoring" (16.8%), and "lack of interest in research" (14.7%). System-related barriers and motivators were the main reasons behind the involvement of medical students in research. Our study is a call for action to raise awareness among medical students about the importance of research and to provide solutions to overcome these barriers
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