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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: 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]