Fragile X syndrome (FXS) is the foremost monogenic cause of autism spectrum disorder and intellectual disability, caused by FMR1 gene silencing. Here, we report that common marmosets carrying FMR1 mutation, a non-human primate model for FXS, share common features in behavioral and molecular phenotypes with patients with FXS. Founder mutants with markedly reduced fragile X messenger ribonucleoprotein expression display hyperactivity, spontaneous seizures, and transcriptome changes in synapse-related genes that overlap with those reported in patients with FXS.
View Article and Find Full Text PDFBackground: With global super-aging, understanding the longitudinal changes in activities of daily living (ADLs) among older adults is critical for maintaining their functional independence, particularly in later life. However, evidence of longitudinal ADL patterns in Asian octogenarians remains limited. This study examined 6-year ADL transition patterns among community-dwelling older adults in Japan aged 85 years or above using latent transition analysis (LTA) to identify dynamic changes and associated factors.
View Article and Find Full Text PDFIntroduction: Studies on well-being and life expectancy of cancer survivors with exceptional longevity are scarce. We explored the relationship between cancer history and well-being and blood biomarkers in centenarians and very old adults. We also aimed to examine the life expectancy of cancer survivors.
View Article and Find Full Text PDFObjective: Compared with stent-assisted coiling (SAC), the Woven EndoBridge (WEB; Terumo Neuro, Aliso Viejo, CA, USA) device has been reported to reduce procedural duration, suggesting the potential to reduce radiation exposure for both patients and operators. However, whether WEB treatment results in lower radiation exposure than SAC has not been fully investigated. This study therefore aimed to evaluate radiation exposure associated with WEB treatment versus SAC in the management of unruptured wide-neck bifurcation aneurysms (WNBAs).
View Article and Find Full Text PDFWe constructed a polygenic protective score specific to Alzheimer's disease (AD PPS) based on the current literature among the participants enrolled in five studies of healthy aging and extreme longevity in the USA, Europe, and Asia. This AD PPS did not include variants on apolipoprotein E (APOE) gene. Comparisons of AD PPS in different data sets of healthy agers and centenarians showed that centenarians have stronger genetic protection against AD compared to individuals without familial longevity.
View Article and Find Full Text PDFWe constructed a polygenic protective score specific to Alzheimer's disease (AD PPS) based on the current literature among the participants enrolled in five studies of healthy aging and extreme longevity in the US, Europe, and Asia. This AD PPS did not include variants on Apolipoprotein E (APOE) gene. Comparisons of AD PPS in different data sets of healthy agers and centenarians showed that centenarians have stronger genetic protection against AD compared to individuals without familial longevity.
View Article and Find Full Text PDFAlzheimers Dement
April 2025
Introduction: Clinical features of cognitive performance in extreme old age differ from those of pathological cognitive decline in Alzheimer's disease (AD).
Methods: We compared cognitive traits between 638 centenarians aged 100-115 years and 208 and 221 patients with AD from independent facilities.
Results: The presence of the apolipoprotein E (APOE) ε4 allele did not affect Mini-Mental State Examination (MMSE) scores in centenarians.
Background: Associations between physical activity (PA) and quality of life (QOL) have usually been studied in people in their 60s and 70s, however little is known about these associations in older age groups. We aimed to examine the association between PA and QOL in Japanese adults aged 85-89 years and investigate the types of exercises/sports in this population.
Methods: This cross-sectional study (n = 914) used baseline data from the Kawasaki Aging and Well-being Project (KAWP), a longitudinal cohort study of older adults aged 85-89 years.
J Neurosurg Case Lessons
March 2025
Background: Cervical myelopathy is rarely caused by vertebral artery (VA) compression, and a very limited number of cases have been published. In most of these cases, dorsal cord compression was observed and treated by microvascular decompression (MVD). However, in the very rare case of ventral spinal cord compression by the VA (VSCV), access for MVD is significantly limited.
View Article and Find Full Text PDFTraditionally, leptomeningitis (LM) has been considered untreatable and terminal, but the development of epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs) has significantly improved the prognosis of patients with EGFR mutations. However, non-LM lesions occasionally progress or recur, even when the LM is successfully controlled with EGFR-TKIs, and treatment of such cases remains unclear. We herein report a patient with advanced non-small-cell lung cancer (NSCLC) who was treated with an EGFR-TKI for LM and cytotoxic chemotherapy for EGFR-TKI-resistant pulmonary lesions.
View Article and Find Full Text PDFBackground: Multimorbidity increases with age, leading to various adverse outcomes, including higher mortality, care dependency, hospitalizations, and healthcare costs. Polydoctoring, managing a patient with multimorbidity by multiple healthcare providers, can be a risk of fragmented care and increased healthcare expenditures. This study aims to identify patient-related factors contributing to polydoctoring in older adults with multimorbidity.
View Article and Find Full Text PDFBackground: The relationship between inflammatory response, fish consumption, and mortality risk in older individuals is unclear. We investigated whether C-reactive protein (CRP) levels ≥ 0.1 mg/dL, fish intake, and inflammatory responses are associated with all-cause mortality risk in older adults.
View Article and Find Full Text PDFObjective: To investigate on three-dimensional (3D) fusion images the apposition of low-profile visualized intraluminal support (LVIS) stents in intracranial aneurysms after treatment and assess inter-rater reliability.
Materials And Methods: Records of all patients with unruptured intracranial aneurysms who were treated with the LVIS stent were retrospectively accessed and included in this study. Two neurosurgeons evaluated the presence of malapposition between the vessel walls and the stent trunk (crescent sign) and the vessel wall and the stent edges (edge malappostion) on 3D fusion images.
Background: The significance of angiogenic factors as predictors of second-line (2L) chemotherapy efficacy when combined with angiogenesis inhibitors for metastatic colorectal cancer (mCRC) remains unestablished.
Patients And Methods: In this multicenter prospective observational study, 17 angiogenic factors were analyzed in plasma samples collected at pretreatment and progression stages using a Luminex multiplex assay. Patients who received chemotherapy plus bevacizumab (BEV group), FOLFIRI plus ramucirumab (RAM group), or FOLFIRI plus aflibercept (AFL group) as the 2L treatment were included.
Background: Care fragmentation, characterized by the uncoordinated involvement of multiple healthcare providers, leads to inefficient and ineffective healthcare, posing a significant challenge in managing patients with multimorbidity. In this context, "polydoctoring," where patients see multiple specialists, emerges as a crucial aspect of care fragmentation. This study seeks to develop an indicator to assess polydoctoring, which can subsequently enhance the management of multimorbidity.
View Article and Find Full Text PDFBackground: During coil embolization of intracranial aneurysms, the aneurysmal neck needs to be evaluated because coil protrusion into the parent artery may lead to ischemic complications. However, the neck cannot always be clearly visualized due to the limitation of the angiography system and due to the structure of the aneurysm. As a visual aid, we propose a color-coded fusion imaging method that generates "virtual coil" images using preoperative three-dimensional digital subtraction angiography (3D-DSA) images.
View Article and Find Full Text PDFBackground: Increased protein intake has been recommended to prevent sarcopenia/frailty, reports on the quantity and quality of protein intake needed and the associated prognosis, particularly in the aging population of Asia, are limited. In this study, we aimed to investigate the relationship between protein intake and mortality in Japanese individuals, aged 85 years and older.
Methods: The data were obtained from The Kawasaki Aging and Wellbeing Project, which is a prospective cohort study of older adults aged between 85 and 89 years with no physical disability at baseline.
Background: Direct carotid-cavernous fistulas (dCCFs) are often treated endovascularly. However, because the dCCF is usually a high-flow shunt, it is often difficult to obtain an accurate vascular structure using conventional digital subtraction angiography (DSA). Here, the authors report a case of successfully treated dCCF using three-dimensional (3D) fused DSA images.
View Article and Find Full Text PDFJ Gerontol A Biol Sci Med Sci
August 2023
Background: In the general population, an increase in low-density lipoprotein cholesterol (LDL-C) predicts higher cardiovascular disease risk, and lowering LDL-C can prevent cardiovascular disease and reduces mortality risk. Interestingly, in cohort studies that include very old populations, no or inverse associations between LDL-C and mortality have been observed. This study aims to investigate whether the association between LDL-C and mortality in the very old is modified by a composite fitness score.
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