Medicine
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The ring finger protein 213 (RNF213) p.R4810K variant has been identified as being associated with Moyamoya disease (MMD), a condition that is more prevalent in East Asians. This association extends beyond cerebral vessels and has been implicated in coronary artery disease. ⋯ Although MMD is rare in Western populations, it is more common in East Asian populations. Traditionally, MMD diagnoses have focused solely on the cerebral vessels without guidelines for the assessment of other vascular involvements. This familial case underscores the fact that a single genetic mutation can manifest in diverse ways in different diseases. Hence, the need and regularity of systemic vessel screening should be thoughtfully considered in such a context.
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Concerns about a possible relationship between vaccination against Coronavirus Disease 2019 (COVID-19) and menstrual disorders have been raised in the media. In addition, different studies have shown that the COVID-19 vaccine may be associated with menstrual changes. This study was conducted to investigate the effects of COVID-19 vaccines on the menstrual cycle in women. ⋯ Menstrual delay, prolonged menstrual duration, heavy bleeding, and early menstruation were more common in women than prior to receiving the vaccine (P < .05). More than half of the women experienced menstrual cycle changes after receiving the COVID-19 vaccine. Women experienced significantly higher rates of menstruation delay, prolonged menstrual duration, heavy bleeding, and early bleeding compared to before vaccination.
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Previous studies have suggested a potential association between allergic rhinitis (AR) and hypertension, but the genetic basis remains unclear. In this study, we aimed to explore the genetic correlation and potential causal association between AR and hypertension. Using a large-scale genome-wide association study (GWAS) public database, we conducted meticulous screening to acquire the most up-to-date GWAS data on single nucleotide polymorphisms (SNPs) relevant to AR and hypertension, with a significance threshold of P < 5 × 10-8. ⋯ Moreover, our reverse MR analysis yielded no indication of reverse causality from hypertension to AR, effectively discounting any influence from the latter on the former. Our study found evidence of a causal association between AR and hypertension in individuals of European ancestry. It demonstrated that AR reduced the risk of hypertension, suggesting a protective effect on hypertension due to the negative correlation with AR.
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Acute intermittent porphyria (AIP) is a rare metabolic disorder affecting heme production due to enzyme porphobilinogen deaminase deficiency. Diagnosing acute intermittent porphyria is difficult because its symptoms interrelate with those of other common diseases. When AIP is combined with seizures, the diagnosis process is more complicated. This case report shows all tests and criteria used to arrive at the final stage of diagnosis. ⋯ It is essential to consider acute intermittent porphyria diagnosis in patients having unexplained severe abdominal pain associated with neurological and psychiatric symptoms. Since AIP is a rare disease with a high mortality rate when not treated early, Clinical practices should include AIP as one of the tests done on patients showing these symptoms at an early stage. The fastest way to identify this is to conduct a urine test. The change of color from brown to reddish color is a diagnostic indicator of AIP. This strategy helps reduce misdiagnoses and delayed treatment of the right disease.
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The coronavirus disease 2019 (COVID-19) pandemic was disruptive to non-COVID-19-related healthcare. This study aimed to compare patient inflows and patient population characteristics at the Hand Surgery Department of JiShuiTan (JST) Hospital in Beijing, a top referral center, in 2020 during the pandemic relative to the same period in 2019. This cross-sectional study was conducted to analyze the impact of the COVID-19 pandemic on patients admitted to the hand surgery ward. ⋯ The top 5 diagnosis types for admitted patients were consistent throughout J-A19 and in January 2020. The rank of the diagnostic type "open injuries of the hand and wrist" increased significantly in February, March, and April of 2020 compared with 2019. The COVID-19 pandemic decreased patient admissions, especially for nonemergency patients, during J-A20.