genetic disorder, rare disease, cilia, reduced lifespan Alström syndrome is a rare monogenic ciliopathy caused by a mutation to the Alström syndrome 1 (ALMS1) gene. Alström syndrome has an autosomal recessive nature of inheritance. Approximately 1,200 cases of Alström syndrome have been identified worldwide. Complications of the disease are likely caused by dysfunctional cilia with complications arising early in life. The known complications of Alström syndrome have been reported to impact multiple major organ systems, including the endocrine system, cardiac system, renal system, sensory system, and hepatic system. The symptoms of Alström syndrome have great variability in presentation and intensity but often lead to organ damage. This has resulted in a shortened lifespan for individuals affected by Alström syndrome. Individuals with the disease rare exceed the age of 50. Currently, there are no specific treatments for Alström syndrome that can cure the disease, prevent the complications, or reverse the complications. Current management involves management of symptoms with the goal of improving quality of life and lifespan. This review aims to summarize the current knowledge on the epidemiology, diagnosis, pathophysiology, complications, management, and prognosis of Alström syndrome. In addition to that, this review also aims to raise awareness and encourage research on Alström syndrome as the condition has a huge impact on affected individuals.
Background: Cannabis is one of the most extensively cultivated illicit drugs internationally. Its legalization and decriminalization in some states of the U.S. has increased its usage. Despite its widespread use, cannabinoid-related cerebrovascular disease is underreported. There are contradicting studies regarding the risk of Acute Ischemic Stroke (AIS) and its outcomes among cannabis users. Hypothesis: Our analysis estimates concurrent Cannabis Usage Disorder (CUD) trends among AIS patients and its impact on AIS outcomes. Methods: Study cohort was derived from the Nationwide Inpatient Sample (NIS) for the years 2007-2018. Hospitalizations due to AIS in the age group of 18-49 were identified using previously validated ICD-9-CM/ICD-10-CM codes. Cochran Armitage trend test and multivariable survey logistic regression modeling were then utilized to analyze temporal trends, predictors, and outcomes. Results: Out of a total 406,987 hospitalizations due to AIS from 2007-2018, 19,614 (4.82%) had concurrent CUD. AIS hospitalizations with concurrent CUD have increased from 3.3% in 2007 to 6.6% in 2018 with a yearly increase of 10% (OR 1.1; 95%CI 1.1-1.1; p<0.01). In multivariable regression analysis, age group 18-34 (OR 2.5; 95% CI 2.3-2.7; p< 0.01); male (OR 1.5; 95%CI 1.4-1.6; p<0.01), African American (OR 2.1; 95% CI 1.9 -2.2, p<0.01), lower socio-economic group (OR 1.3; 95% CI 1.2-1.5, p<0.01), West region (OR 1.5; 95% CI 1.3-1.7, p<0.01), Weight loss (OR 1.3; 95% CI 1.1-1.6, p=0.01), Depression (OR 1.2; 95% CI 1.1-1.3, p =0.001) and other psychiatric disorders were associated with concurrent CUD among AIS patients. After adjusting with confounding factors, CUD was not associated with higher in-hospital mortality (OR 1.0; 95% CI 0.9-1.1, p=0.21) and discharge to facility. Conclusion: Our results show that between 2007 and 2018, hospitalizations due to AIS with concurrent CUD has doubled. This association is significantly higher among 18-34 age group, males, African American, Western US and with concomitant psychiatric disorders. However, CUD was not associated with poor outcomes in AIS. Our study highlights underlying demographic trends and emphasizes the need for further studies to identify the causal association of cannabis use and AIS.
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