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Muscular dystrophy (MD) is a genetic disorder that causes progressive muscle weakness and degeneration. Limb‐girdle muscular dystrophy (LGMD) is a type of MD that mainly causes muscle atrophy within the shoulder and pelvic girdles. LGMD is classified into autosomal dominant (LGMD‐D) and autosomal recessive (LGMD‐R) inheritance patterns. Mutations in the Dysferlin gene (DYSF) are common causes of LGMD‐R. However, genetic screening of DYSF mutations is rare in Taiwan. Herein, we identified a novel c.2867_2871del ACCAG deletion and a previously reported c.937+1G>A mutation in DYSF from a Taiwanese family with LGMD. The primary symptoms of both siblings were difficulty climbing stairs, walking on the toes, and gradually worsening weakness in the proximal muscles and increased creatine kinase level. Through pedigree analysis and sequencing, two siblings from this family were found to have compound heterozygous DYSF mutations (c. 937+1G>A and c. 2867_2871del ACCAG) within the separated alleles. These mutations induced early stop codons; if translated, truncated DYSF proteins will be expressed. Or, the mRNA products of these two mutations will merit the nonsense‐mediated decay, might result in no dysferlin protein expressed. To our knowledge, this is the first report of a novel c.2867_2871del ACCAG deletion in DYSF. Further research is required to examine the effects of the novel DYSF mutation in Taiwanese patients with LGMD. [ABSTRACT FROM AUTHOR]

Background: Chinese populations have been reported higher incidence of all strokes and intracerebral hemorrhage. However, few large-scale studies have evaluated changes of stroke epidemiology in the 21st century. Methods: We explored the rates of incidence of all first-ever strokes, subtypes, and 1-month case fatality by using data from the Taiwan National Health Insurance Research Database since 2004. Also, we investigated sex differences in stroke. Time-trend analysis was performed for incidence and case fatality rates of all strokes and subtypes in both sexes. Results: The age-adjusted incidence of all strokes per 100,000 person-years decreased by 16%, from 251 (95% confidence interval [CI] 249–253) in 2004 to 210 (95% CI 209–212) in 2011 (p<0.001); it was always higher in Chinese men than in women. Among pathological subtypes, the incidence of intracerebral hemorrhage markedly decreased by 26% over the years (p<0.001), while that of ischemic stroke slightly decreased by 8%. However, when stratified by sex, the incidence of ischemic stroke decreased significantly in only women, not in men (men: p = 0.399, women: p = 0.004). Regarding the incidence of subarachnoid hemorrhage, it remained unchanged. Furthermore, the rate of 1-month case fatality decreased significantly for all strokes in both sexes (p<0.001). Conclusions: In Taiwan, the incidence rate of first-ever stroke decreased in both Chinese men and women in the early 21st century. Men had a higher incidence rate than women. Furthermore, a marked decrease was noted in the incidence of intracerebral hemorrhage, while a slight decrease was noted in that of ischemic stroke; however, the decreased incidence of ischemic stroke was significant in only women. [ABSTRACT FROM AUTHOR]

Background: Coffee and tea consumption has been shown to associate with the risk of dementia. However, little is known about how sex and vascular comorbidities (type 2 diabetes, hypertension, and hypercholesterolemia) modify this association. Method: This is a multi‐center case‐control study. We recruited 278 Alzheimer's disease (AD) and 102 small‐vessel vascular dementia (VaD) patients aged 60 or older from three teaching hospitals in Taiwan from 2007 to 2010; controls (n = 468) were recruited from the health checkup program during the same period of time. The outcomes of this study are clinically diagnosed AD and VaD. Information on coffee and tea consumption and the history of type 2 diabetes, hypertension, and hypercholesterolemia were collected based on questionnaires and medical charts. A multinomial logistic regression model was utilized to evaluate 1) the association of coffee and tea consumption with dementia risk, and 2) how sex and vascular risk factors modified these associations. Result: Different combinations and quantities of coffee and tea consumption protected against AD and VaD. Our analyses demonstrated consumption of three or more cups of coffee or tea per day was associated with a decreased risk of AD [adjusted odds ratio (aOR) = 0.42; 95% confidence interval (CI) = 0.22‐0.78)] and VaD (aOR = 0.42; 95% CI = 0.19‐0.94). After stratification, these associations became more evident in females for AD (aOR = 0.15; 95% CI = 0.05‐0.46) and in males for VaD (aOR = 0.06; 95% CI = 0.01‐0.50). Similarly, hypertensive participants consuming higher quantities of coffee and tea had a decreased risk of AD (aOR = 0.30; 95% CI = 0.11‐0.78). Moreover, hypercholesterolemia significantly modified the association of coffee or tea consumption with the risk of dementia (Pinteraction < 0.001). Conclusion: Coffee and tea consumption was associated with a decreased risk of AD and VaD. Sex and vascular comorbidities differentially modified the association of coffee and tea consumption with the risk of dementia. [ABSTRACT FROM AUTHOR]

Background: Coffee and tea consumption has been linked to dementia. However, it remained unknown how sex and vascular risk factors modify the association. We aimed to investigate the association of coffee and tea consumption with dementia and whether sex and vascular comorbidities modified the association., Methods: We included 278 elderly patients with Alzheimer's disease (AD) and 102 patients with vascular dementia (VaD) from three hospitals; controls (N = 468) were recruited during the same period. We collected the frequency and amount of coffee and tea consumption and the presence of vascular comorbidities. The multinomial logistic regression model was utilized to evaluate the association of coffee and tea consumption with dementia, stratified by sex and vascular comorbidities., Results: Different combinations and quantities of coffee and tea consumption protected against AD and VaD. Consumption of ≥3 cups of coffee or tea per day was protective against AD [adjusted odds ratio (aOR) = 0.42; 95% confidence interval (CI) = 0.22-0.78)] and VaD (aOR = 0.42; 95% CI = 0.19-0.94). Stratified analyses showed that the protective effects of a higher quantity of coffee and tea against AD were more pronounced among females and individuals with hypertension. Consumption of either coffee or tea was associated with a decreased risk of VaD among diabetic participants (aOR = 0.23; 95% CI = 0.06-0.98). Hyperlipidemia modified the association of coffee or tea consumption on the risk of AD and VaD (both P interaction < 0.01)., Conclusion: The risk of AD and VaD was lower with increased consumption of coffee and tea; the impact differed by sex and vascular comorbidities including hypertension, hyperlipidemia, and diabetes., Competing Interests: Declaration of competing interest A conflict of interest occurs when an individual's objectivity is potentially compromised by a desire for financial gain, prominence, professional advancement or a successful outcome. JFMA Editors strive to ensure that what is published in the Journal is as balanced, objective and evidence-based as possible. Since it can be difficult to distinguish between an actual conflict of interest and a perceived conflict of interest, the Journal requires authors to disclose all and any potential conflicts of interest., (Copyright © 2024 Formosan Medical Association. Published by Elsevier B.V. All rights reserved.)