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Aim: Whether sex differences exist in hereditary progeroid syndromes remains unclear. In this study, we investigated sex differences in patients with Werner syndrome (WS), a model of human aging, using patient data at the time of diagnosis. Methods: The presence of six cardinal signs in the diagnostic criteria was retrospectively evaluated. Results: We found that the percentage of patients with all cardinal signs was higher in males than in females (54.2% vs. 21.2%). By the age of 40 years, 57.1% of male patients with WS presented with all the cardinal signs, whereas none of the female patients developed all of them. In particular, the frequency of having a high‐pitched, hoarse voice, a characteristic of WS, was lower in female patients. The positive and negative predictive values for clinical diagnosis were 100% for males and females, indicating the helpfulness of diagnostic criteria regardless of sex. More female patients than male (86.7% vs. 64%) required genetic testing for their diagnosis because their clinical symptoms were insufficient, suggesting the importance of genetic testing for females even if they do not show typical symptoms of WS. Finally, the frequency of abnormal voice was lower in patients with WS harboring the c.3139‐1G > C homozygous mutation. Conclusion: These results indicate, for the first time, that there are sex differences in the phenotypes of hereditary progeroid syndromes. The analysis of this mechanism in this human model of aging may lead to the elucidation of sex differences in the various symptoms of normal human aging. Geriatr Gerontol Int 2024; 24: 161–167. [ABSTRACT FROM AUTHOR]

Aim Decreasing behavioral independence levels and increasing frequencies of behavioral disturbances are the most problematic aspects for people with dementia. However, the relative effects of dementia on these factors are unknown. We investigated variability in behavioral independence and disturbance profiles of patients with dementia. Methods This was a cross-sectional correlation study in which 70 inpatients with dementia from convalescent wards in a hospital were enrolled. We assessed cognitive impairments with the Mini-Mental State Examination, evaluated behavioral independence levels with the Functional Independence Measure and assessed frequency of behavioral disturbances with the Dementia Behavior Disturbance Scale. Results Coefficient determination was 0.395 ( P < 0.0001) between the Mini-Mental State Examination and Functional Independence Measure scores, 0.261 ( P < 0.0001) between the Mini-Mental State Examination and Dementia Behavior Disturbance Scale scores, and 0.355 ( P < 0.0001) between the Functional Independence Measure and Dementia Behavior Disturbance Scale scores. The most easily accomplished behavioral independence was eating, and the hardest was transfer to tub/shower. The behavioral disturbance with the highest frequency was urinary incontinence, and the lowest was emptying drawers or closets. Conclusions Moderate correlations were found between severity of dementia and behavioral independence levels and frequencies of behavioral disturbances. There were both easier and harder to accomplish behaviors, and both higher and lower frequencies of behavioral disturbances. Geriatr Gerontol Int 2017; 17: 605-613. [ABSTRACT FROM AUTHOR]

Werner syndrome (WS) is an autosomal recessive progeroid disorder caused by mutations in the WRN DNA helicase. It is characterized by the graying and loss of hair, juvenile cataracts, sclerosis and ulceration of skin, insulin-resistant diabetes mellitus, dyslipidemia, abdominal adiposity, osteoporosis, atherosclerosis, and malignant neoplasm. Patients are usually diagnosed in their 30s or 40s, but the early pathophysiology of the syndrome is still not fully understood. Here we report a 29-year-old female patient who displayed cataracts, hair graying, and tendinous calcinosis. Her parents were first cousins. Interestingly, the patient lacked the metabolic signs typical for WS, including glucose intolerance, dyslipidemia, and visceral fat accumulation. A hyperinsulinemic response at 30 min was observed in an oral glucose tolerance test. Mutational analysis for the WRN gene revealed a homozygous nucleotide substitution 3190C>T in exon 24, resulting in a protein product with replacement of an arginine residue at position 573 by termination codon (Arg987Ter). The mutated WRN protein was unable to translocate into the nucleus in an in vitro cell assay. A WS patient with an Arg987Ter mutation has been previously reported in Switzerland, the present case is the first to be identified in Asia. This case demonstrates the early clinical features of WS and suggests that metabolic abnormality, including insulin resistance, is not an essential component of WS at disease onset. Moreover, a follow-up study of such case would be useful to understand how the various clinical symptoms in WS develop and progress over the years. Geriatr Gerontol Int 2012; 12: 140-146. [ABSTRACT FROM AUTHOR]