Pak J Med Sci
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To explore the risk factors of chronic pain after total knee arthroplasty (TKA) and to establish and verify a prediction model. ⋯ Gender, postoperative 24-hours NRS and postoperative three months HSS score are independent risk factors for chronic pain after TKA. The nomogram prediction model based on these factors is effective and can provide auxiliary reference for patients with chronic pain after TKA.
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Young-onset dementia (YOD) is influenced by various risk factors, including substance abuse. In this report, we present the case of a 54-year-old man who developed YOD following prolonged abuse of amphetamine-type stimulants. ⋯ Our case highlights the importance of considering amphetamine-type stimulants as potential risk factors for YOD and emphasizes the need to recognize cognitive impairment resulting from substance abuse. Additionally, we look into relevant literature to provide further context and insights.
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Case Reports
A missense variant in the PACS2 gene cause Epileptic Encephalopathy and seizures in Saudi family.
We identified the PACS2 gene responsible for the multifunctional sorting protein that play a role in nuclear gene expression as well as pathway traffic regulation. Diseases associated with PACS2 include early infantile epileptic encephalopathy (EIEE66), alacrima, achalasia, and mental retardation syndrome. Whole exome sequencing (WES) technique was used for the identification of variants that may lead to the disease. ⋯ Glu209Lys in exon-6 of PACS2. The detected heterozygous mutation in the exon-6 region of PACS2 gene change the protein features and may cause disease. Further, explain the possibility that PACS2 gene play important role to cause intellectual disability, epilepsy and epileptic encephalopathies in this Saudi family.
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To retrospectively evaluate the distribution of ABO and RhD blood groups and their relationship with diseases. ⋯ It was determined that the O Rh D+ blood group was found more frequently in our region's population than in other groups. This different result depending on the A Rh D+ blood group, which is the most common throughout the country may have reflected the influence of different geographical regions and ethnic characteristics due to the students in our population. In addition, the results regarding the relationships between blood groups and occupation, genetics, existing disease, presence of allergies, and visual defects in the eye are important.