A preliminary study on the development of care staff's Final-Stage Decision-Making Support Scale for older adults with dementia.

AIM: This preliminary study aimed to develop a care staff Final Life-Stage Decision-Making Support Scale (FS-DM) for older adults with dementia (OwDs) in geriatric facilities. METHODS: The FS-DM items were developed from focus group interviews with care staff and reviewed through discussions with several experts in dementia care. A questionnaire survey was conducted among care staff in geriatric facilities from February to March 2021. RESULTS: In total, 138 carers (110 [79.7%] women and 28 [20.3%] men, mean age: 41.5 ± 2.3 years) participated. Among them, 91 (65.9%) were professional caregivers, and 36 (26.1%) were nurses. The FS-DM was developed using a factor analysis, which resulted in 11 items grouped into three factors', as it is the three factors: (1) support for the realization of the wills of OwDs in their final life-stages through collaboration with families and multiple professionals; (2) consideration of communication regarding the formation and expression of the wills of OwDs in their final life-stages; and (3) support for eliciting the wills of OwDs during their final life-stages according to their decision-making ability and values. The factor loadings ranged from 0.385 to 0.827, and the accumulated contribution ratio was 61.03%. The reliability analysis yielded a Cronbach's α of 0.740-0.855. The first and second factors of the FS-DM were significantly correlated with the Approaches to Dementia Questionnaire item "Nurses' attitudes towards support for decision-making." CONCLUSION: Our results suggest that the FS-DM could provide supportive care for OwDs to formulate, express, and realize their will, and that it has a degree of reliability and validity. Geriatr Gerontol Int 2024; 24: 130-134.

Care Staff's Daily Living Decision-Making Support Scale for Older Adults with Dementia in Japan: Development of Validity and Reliability.

This study aimed to develop and validate a scale to assess the daily-living decision-making support of care staff for older adults with dementia (OwDs) in Japan. A questionnaire survey was conducted among 138 care staff at two geriatric healthcare facilities from February to March 2021. The Daily Living Decision-Making Support Scale for Older Adults with Dementia (DL-DM) was developed using item analysis, factor analysis, and covariance structure analysis. The factor analysis yielded 12 items and three factors: (1) support for the formation and expression of intentions in daily life based on the life background and values of OwDs; (2) attitudes and devising ways to communicate regarding the formation and expression of intentions in OwDs daily lives; and (3) devising ways to support OwDs in realizing their intentions in daily life. The internal consistency reliability analysis yielded a Cronbach's α of 0.87 for the total scale. The DL-DM correlated with the concurrent validity measures as expected. The DL-DM demonstrated validity and reliability as a potential scale to assess support for OwDs in daily life decision-making. The results also suggest an association between the DL-DM and person-centered care for OwDs.

[Decision-making support for elderly individuals with dementia in a geriatric health service facility: A questionnaire survey on concrete care methods to draw wills of individuals].

PURPOSE: The purpose of this study was to clarify the care methods used by healthcare staff in service facilities to draw up wills for elderly individuals with dementia in daily life and the final stage in decision-making support. METHODS: A questionnaire survey was conducted among healthcare staff in a geriatric health service facility in August 2020. RESULTS: There were 45 subjects (16 males [35.6%]; 29 females [64.4%]). The average age was 42.2 (±12.3) years old, and the mean number of years of experience in a geriatric health service facility was 17.4 (±10.7) years. Deathbed care was provided to ≥90% of the subjects. A factor analysis of items related to decision making in elderly individuals with dementia revealed the first factor to be "support and communication to draw wills", the second factor to be "support and communication for expression to realize decision making", and the third factor to be "understanding, communication, and family support for decision-making realization." The totals of each of these three factors and "having confidence in care focusing on the viewpoint of elderly individuals with dementia" were significantly different. The correction between the Personhood of Approaches to Dementia Questionnaire Japanese version and the three subscales of decision making in elderly individuals with dementia had a significant coefficient of correlation. CONCLUSION: More polite communication methods are necessary for the formation, expression, and realization of the intentions of elderly individuals with dementia to support their decision making.

A Prospective, Open-Label Short-Term Pilot Study on Modification of the Skin Hydration Status During Treatment With a Sodium-Glucose Cotransporter-2 Inhibitor.

INTRODUCTION: Various types of skin lesions with pruritus have been reported in participants of Asian clinical trials on sodium-glucose cotransporter-2 (SGLT2) inhibitors. The aim of this study was to determine whether the diuretic effect of a SGLT2 inhibitor could modify skin hydration status in patients with type 2 diabetes mellitus. METHODS: A prospective, short-term, open-label, two-parallel-arm, pilot study was conducted. Eligible patients were assigned to either a SGLT2 inhibitor (50 mg ipragliflozin once daily) group or to a dipeptidyl peptidase-4 inhibitor (50 mg sitagliptin once daily) group (control). The biophysical characteristics of the skin were measured and blood chemistry tests were run in all participants 1 day prior to medication initiation (pre-treatment values) and 14 days thereafter (post-treatment values). RESULTS: Fourteen patients were enrolled in the study, of whom eight were in the ipragliflozin group and six in the sitagliptin group. Compared to the pre-treatment values, the glycated hemoglobin (HbA1c) levels were slightly but significantly reduced in the ipragliflozin group (p = 0.02), but the changes in HbA1c from the pre-treatment to post-treatment time points did not significantly differ between the two treatment groups. Serum 3-hydroxy butyrate levels were significantly higher in the ipragliflozin group than in the sitagliptin group (p < 0.02). Neither electrical capacitance nor electrical conductance of the stratum corneum (SC), parameters that reflect skin water content, was reduced by 14 days of ipragliflozin treatment; similarly, no changes in these parameters were found in the sitagliptin control group. There was also no difference in the changes in water barrier function of the SC between the two treatment groups. There was a significant linear correlation (p < 0.01) in skin water content at pre-treatment and that 14 days after treatment with each drug, respectively. CONCLUSION: Ipragliflozin treatment for 14 days did not significantly affect the skin hydration status in patients with well-controlled type 2 diabetes mellitus.

Conduction Velocity of Muscle Action Potential of Knee Extensor Muscle During Evoked and Voluntary Contractions After Exhaustive Leg Pedaling Exercise.

PURPOSE: Muscle fiber conduction velocity (CV) has been developed to estimate neuromuscular fatigue and measured during voluntary (VC) and electrically evoked (EC) contractions. Since CV during VC and EC reflect different physiological phenomena, the two parameters would show inconsistent changes under the conditions of neuromuscular fatigue. We investigated the time-course changes of CV during EC and VC after fatiguing exercise. METHODS: In 14 young males, maximal voluntary contraction (MVC) of knee extensor muscles, CV during electrical stimulation (CV-EC) and MVC (CV-VC) were measured before and immediately, 30 min, 60 min, 120 min, and 24 h after exhaustive leg pedaling exercise. RESULTS: CV-EC significantly increased immediately after the fatiguing exercise (p < 0.05) and had a significant negative correlation with MVC in merged data from all time-periods (r = -0.511, p < 0.001). CV-VC significantly decreased 30, 60, and 120 min after the fatiguing exercise (p < 0.05) and did not show any correlations with MVC (p > 0.05). CONCLUSION: These results suggest that CV during EC and VC exhibits different time-course changes, and that CV during EC may be appropriate to estimate the degree of neuromuscular fatigue after fatiguing pedaling exercise.

[Effects of a fall intervention program for elderly patients with dementia based on person-centered care on care staff].

AIM: This study aimed to clarify the effects of a fall prevention intervention that focused on the characteristics of falls among elderly patients with dementia and was based on person-centered care in geriatric facilities on care staff. METHODS: This study was conducted between May 2016 and January 2017, and the subjects were classified into two groups: the intervention group, consisting of members who had participated in a three-month education training program, and the control group, consisting of members who provided the usual care. The study period was nine months divided as follows: training period (three months), fall prevention practice (three months), and follow-up period (three months). The quality of care was measured using the Nursing Quality Indicator for Preventing Falls (NQIPFD), and the assessment scale of health care professionals' recognition of the successful Interdisciplinary Team Approach in Health Care Facilities for the Elderly was also used. In total, the care staff members were evaluated four times: once to obtain baseline values before training, and again after the training period, after the fall prevention practice, and after the follow-up period. The results were analyzed using an analysis of variance (fixed factors = group and time, random factor = subjects, and covariance = years of experience working at the geriatric facility and type of job). RESULTS: There were 50 care staff subjects in the intervention group and 69 people in the control group. The results of the analysis of variance indicated that there was a significant difference in the NQIPFD between baseline 68.60 (±9.09) and follow-up 70.02 (±9.88) in the intervention group. With regard to the differences by intervention, the effect size of the dementia knowledge scale scores was 0.243 higher than the others, which was significant (p<0.01). CONCLUSIONS: The results showed that the participation of care staff in a fall intervention program to support elderly patients with dementia based on person-centered care significantly improved the NQIPFD and other measured factors. These findings suggest that the program fostered positive effects among the care staff.

The effects of quality of life on behavioral and psychological symptoms in elderly people with dementia residing at long-term care facilities.

PURPOSE: The purpose of the present study was to clarify how quality of life (QOL) affects the behavioral and psychological symptoms of dementia (BPSDs) among elderly individuals with dementia within long-term care facilities (e.g., long-term healthcare facilities, sanatorium-type medical facilities, and special nursing homes for the elderly). METHODS: Elderly individuals with dementia were evaluated to determine their activities of daily living (ADL; Katz), Mini-mental State Examination (MMSE), Neuropsychiatric Inventory (NPI), and Quality of life inventory for the elderly with dementia (QOLD) scores. RESULTS: The subjects were recruited from intermediate welfare facilities (n = 226, 43.7%), hospitals with supportive care (n=91, 17.6%), and intermediate care facilities (n = 200, 38.7%). The mean age of the subjects was 85.18±7.13 years. The NPI scores revealed that Agitation/Aggression was high among subjects who resided in healthcare health facilities and sanatorium-type medical facilities, while Apathy/Indifference was high in those who resided in special nursing homes. Additionally, a multiple regression analysis found that most of the NPI items, when set as independent variables, displayed a significant association with the same subscale of the QOLD. CONCLUSION: When each item of the NPI was set as a dependent variable in a multiple regression analysis, the scores were significantly related to both subscales of the QOLD. It is suggested that QOL should be maintained or improved in an effort to reduce the incidence of the associated BPSDs in long-term care facilities.

[How quality of life indices reflect the behaviors of elderly people with dementia on dementia care mapping and the relationship among well-being, ill-being and the behavior category code].

PURPOSE: Dementia Care Mapping (DCM) is an observation and evaluation technique intended to improve the quality of care for elderly people with dementia, based on aims of person-centered care. The purpose of this study was to clarify that well-being and ill-being (WIB) levels affects the behavior category code (BCC) in long-term care insurance facilities. METHODS: In this study, we evaluated people with dementia who used care facilities between April 2005 and July 2007. The evaluation indices used were the 6-hour DCM, the Mini-Mental State Examination (MMSE), and the Gottfries-Brane-Steen Scale (GBS). RESULTS: The total number of subjects whose families submitted written informed consent to participate was 256 (50 men and 206 women). The mean MMSE score of the total subjects was 10.83 (±8.58), and that of individuals receiving home care was the highest 17.14 (±6.38). The next highest mean MMSE score was that of the group home residents: 16.56 (±6.83). The lowest mean MMSE score was of individuals in health services facilities for the elderly (serious dementia ward), at 2.16 (±3.88). Multiple regression analysis was performed after controlling for age, sex, type of dementia and GBS, and we used the WIB value as dependent variables. The BCC variables of L (Labor) in group homes, and E (Expression) and H (handicrafts) variables in welfare institutions and long-term care facilities for the elderly significantly promoted WIB value. CONCLUSIONS: Among BCC indices such as L in group homes, and E and H in welfare institutions and long-term care facilities for the elderly, which reflect WIB values (and therefore, quality of life), it was found that those activities associated with work reflected quality of care. However, the BCC indices of B (Borderline) C (Cool), and U (Unresponsiveness) significantly inhibited WIB level; these behaviors are categorized as passive behaviors in the DCM. It is probable that these behaviors in elderly people with dementia reflect problems in long-term care insurance facilities. It is necessary to further examine these passive behaviors, because they can accurately reflect the quality of care for elderly people with dementia.

Impact of fall-related behaviors as risk factors for falls among the elderly patients with dementia in a geriatric facility in Japan.

The purpose of this study was to clarify potential fall-related behaviors as fall risk factors that may predict the potential for falls among the elderly patients with dementia at a geriatric facility in Japan. This study was conducted from April 2008 to May 2009. A baseline study was conducted in April 2008 to evaluate Mini-Mental State Examination, Physical Self-Maintenance Scale, fall-related behaviors, and other factors. For statistical analysis, paired t test and logistic analysis were used to compare each item between fallers and nonfallers. A total of 135 participants were followed up for 1 year; 50 participants (37.04%) fell during that period. Results of multiple logistic regression analysis showed that the total score for fall-related behaviors was significantly related to falls. It was suggested that 11 fall-related behaviors may be effective indicators to predict falls among the elderly patients with dementia.

One-year follow-up study of elderly group-home residents with dementia.

For the present research, a 1-year follow-up study was conducted on elderly group-home residents with dementia (n = 13). This research compared the cognitive function and behavioral disorders of the elderly group-home residents with dementia with a control group (n = 13) of elderly patients with dementia in a dementia care ward. Thirteen residents of a group home were observed for 1 year, following the establishment of the group home in January 2003. The subjects in the control group were matched for the sex and dementia type of the group-home residents. The present results suggest that cognitive function among elderly group-home residents was maintained in comparison with elderly patients in a dementia ward. In addition, behavioral and psychological symptoms of dementia were not observed in either group. Furthermore, these findings suggest that behavioral disorders significantly improved in the group-home residents because of the incorporation of activities combining basic and instrumental activities of daily living.

[Dementia Care Mapping-Japanese version(DCM-J) as a research evaluation method for measuring quality of life among elderly patients with dementia: reliability and validity of Well-being and Ill-being value].

AIM: Dementia Care Mapping is a behavior evaluation tool that can be used to measure and improve the quality of life of elderly patients with dementia. However, the reliability and validity of the Dementia Care Mapping-Japanese version (DCM-J) has not yet been established. Therefore, the purpose of this research was to clarify the reliability and validity of the Well-being and Ill-being (WIB) value of the DCM-J as a method for evaluating quality of life. METHODS: The study was conducted from April 1, 2005 to June 30, 2006. The participants included 130 elderly patients (men 31, women 99, average age 82.65+/-7.69 years) who were given a diagnosis of dementia. We established inter-rater reliability during a parallel observation method and also used test-retest for reliability. The correlation between the WIB value of the DCM-J and the Japanese Quality of Life Inventory for Elderly with Dementia (QOL-D) was used to establish criterion-related validity. RESULTS: Forty-nine (37.7%) subjects were given a diagnosis of dementia of Alzheimer's type, 80 (61.5%) had vascular dementia and 1 (0.8%) had dementia with Lewy bodies. The results showed correlation between the WIB value and social withdrawal measured by the behavioral category code (BCC) on the DCM-J and the three subscales of QOL-D: "interacting with surroundings", "expressing self", and "experiencing minimum negative behaviors". There was good internal consistency among these items. The interclass correlation coefficient was 82.32 (+/-5.85) for the WIB value of the DCM-J. The correlation coefficient of the retest, administered one week later, was 0.836 (p=0.001). The WIB value was significantly correlated with three sub-scales of QOL-D, and the correlation coefficient was greater than 0.53. CONCLUSION: We demonstrated that the WIB value of the DCM-J has good inter-rater reliability and test re-test reliability and criterion-related validity. In this study, the WIB value was shown to have similar reliability to the WIB value of the original DCM. Furthermore, our results suggest that the DCM-J could be useful for evaluating quality of life among elderly Japanese patients with dementia.

Identification and functional analysis of CBLB mutations in type 1 diabetes.

Casitas B-lineage lymphoma b (Cblb) is a negative regulator of T-cell activation and dysfunction of Cblb in rats and mice results in autoimmunity. In particular, a nonsense mutation in Cblb has been identified in a rat model of autoimmune type 1 diabetes. To clarify the possible involvement of CBLB mutation in type 1 diabetes in humans, we performed mutation screening of CBLB and characterized functional properties of the mutations in Japanese subjects. Six missense mutations (A155V, F328L, N466D, K837R, T882A, and R968L) were identified in one diabetic subject each, excepting N466D. Of these mutations, F328L showed impaired suppression of T-cell activation and was a loss-of-function mutation. These data suggest that the F328L mutation is involved in the development of autoimmune diseases including type 1 diabetes, and also provide insight into the structure-function relationship of CBLB protein.

Age related variation of salivary testosterone values in healthy Japanese males.

OBJECTIVE: We examined age associated variation in salivary testosterone values among Japanese males as well as anthropometric measurements. METHODS: Salivary samples were collected in pretreated sodium azide treated tubes. The first series: 15-79-year-old males (n = 99); two morning and two evening samples were collected at home for two days. The second series: 90-year-old males (n = 29); one morning sample was collected. Testosterone values were determined using an iodine125-based radioimmunoassay kit modified for saliva. RESULTS: Results show 1) a significant decrease in salivary testosterone values from 20s to 40s and older, 2) no significant decline after 40 through 90 years old, 3) no significant age-related differences in the degree of intraindividual diurnal fluctuation across age groups of 40-70s, and 4) higher BMI is associated with the lower salivary testosterone among 40-70s. CONCLUSIONS: These results suggest that neither a constant decrease of salivary testosterone values or markedly reduced intraindividual fluctations are universal aspects of aging. Older males may maintain relatively high testosterone levels compared to younger men and a relatively 'robust' neuroendocrinological system.

[Follow-up study on subjective quality of life for elderly persons with dementia using the Japanese version of Dementia Quality of Life Instrument (JDQoL)].

PURPOSE: There are few longitudinal studies on the subjective quality of life for elderly persons living in their own homes. The purpose of this study was to clarify the validity and reliability of the Japanese version of the Dementia Quality of Life Scale (JDQoL) used in a follow-up survey as part of a longitudinal study in Japan. METHODS: A baseline study was conducted from November 2002 to January 2003, and a year later a follow-up study was conducted from October 2003 to January 2004. The subjects included 72 (19 men and 53 women) elderly persons with dementia living in their own homes. Sixty-six were diagnosed with vascular dementia (VD) and 6 had senile dementia of Alzheimer's type (SDAT). The follow-up study included 60 subjects (VD: 56 and SDAT: 4); _10 of the original subjects were hospitalized, one died, and one was unable to attend daycare because of deterioration. Evaluation was conducted using the JDQoL, MiniMental State Examination (MMSE), and Geriatric Depression Scale (GDS). RESULTS: For the MMSE, the average score of the subjects in the follow-up study was 20.87 (+/- 4.80), which was significantly higher than the score of subjects that were excluded from the follow-up study (17.82 +/- 5.65). At baseline, reliability coefficient was demonstrated by Cronbach's alpha value of 0.744 approximately 0.886. One year later, Cronbach's alpha was 0.723 approximately 0.872. Among the subjects in the follow-up study, MMSE scores decreased significantly compared with the baseline study. In the subscales of the JDQoL, Negative Feelings (reversal item) significantly improved and Feeling of Belonging significantly decreased after one year (p<0.05). Each subscale of the JDQoL had significant correlation with the GDS at baseline and follow-up. Scores on the GDS at baseline had significant correlation with Self Esteem, Positive Feelings, Negative Feelings, and Feeling of Belonging of the JDQoL at follow-up (0.320 to 0.504; p<0.05). CONCLUSION: We demonstrated that the reliability and validity of the JDQoL was comparable to the English version of DQoL. Subjective QOL did not decline for all sub-scales, Negative Feelings in the JDQoL significantly improved compared to baseline.

Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects.

Because impaired insulin secretion is characteristic of type 2 diabetes in Asians, including Japanese, the genes involved in pancreatic beta-cell function are candidate susceptibility genes for type 2 diabetes. We examined the association of variants in genes encoding several transcription factors (TCF1, TCF2, HNF4A, ISL1, IPF1, NEUROG3, PAX6, NKX2-2, NKX6-1, and NEUROD1) and genes encoding the ATP-sensitive K(+) channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) with type 2 diabetes in a Japanese cohort of 2,834 subjects. The exon 16 -3c/t variant rs1799854 in ABCC8 showed a significant association (P = 0.0073), and variants in several genes showed nominally significant associations (P < 0.05) with type 2 diabetes. Although the E23K variant rs5219 in KCNJ11 showed no association with diabetes in Japanese (for the K allele, odds ratio [OR] 1.08 [95% CI 0.97-1.21], P = 0.15), 95% CI around the OR overlaps in meta-analysis of European populations, suggesting that our results are not inconsistent with the previous studies. This is the largest association study so far conducted on these genes in Japanese and provides valuable information for comparison with other ethnic groups.

The Japanese Study of Adult Twins Reared Apart and Growing Old Separately.

More than 100 pairs of adult twins, reared apart and growing old separately, have participated in the Japanese Study of Adult Twins Reared Apart and Growing Old Separately since it began in 1974. The subjects are 161 pairs of adult twins born between 1910 and 1945 in Japan. The main focus of this study is to investigate the influences of environmental factors and life history on life satisfaction and psychological well-being in later adulthood. A mail survey has been conducted on these twins each year since 1974. To date, the Wechsler Adult Intelligent Scale, Maudsley Personality Inventory, Newgarten Life Satisfaction Index, comprehensive medical examinations and personal interviews have been conducted for 12 twin pairs residing in various areas of Japan.

The Osaka University Aged Twin Registry: epigenetics and identical twins discordant for aging-dependent diseases.

The Osaka University Aged Twin Registry (OUATR) is the largest adult twin registry in Japan. Since its establishment in 1974, the OUATR has conducted a number of studies with particular focus on the environmental contribution to physical-cognitive-mental aging, longevity and aging-dependent diseases in later adulthood. The registry consists of 12,000 pairs of Japanese twins born between 1900 and 1935. Two hundred and fifty pairs of twins have undergone comprehensive medical examination to date. Follow-up questionnaires have been mailed out on a regular basis, for the purpose of checking current vital statuses, health conditions, and so forth. The main objective of this longitudinal twin study is to contribute to the prevention of lifestyle-related diseases and the promotion of successful aging.

[Development of the Dementia Quality of Life Instrument-Japanese version].

AIM: The aim of this study was to develop the Dementia Quality of Life Instrument-Japanese version (DQoL-Japanese Version). METHODS: The subjects were 72 elderly patients, 19 men and 53 women (Vascular Dementia: 66, Senile dementia Alzheimer type 6) using day care and day services who had obtained approval for participation in the investigation. The interview survey was conducted from October 2002 to January 2003. RESULTS: In the subscales of the DQoL-Japanese Version, "negative feelings" scored the highest and "affirmative feelings" the lowest. There was a significant correlation coefficient between the test and those of a conducted 2 weeks later, ranging from 0.730 to 0.857 (p<0.05). The internal consistency reliability for the five scales ranges from alpha=0.66 to 0.864. There was a significant correlation coefficient between the Geriatric Depression Scale (GDS) and DQOL sub-scales such as "self esteem," "positive affect", "negative feelings" and "feeling of belonging". On the other hand, there was no significant relationship between the GDS and "aesthetics" of the DQoL-Japanese Version. CONCLUSIONS: It was suggested that the DQoL-Japanese Version DQoL is useful to measure subjective QOL of elderly patients with dementia. The subjects who understood the questions of the DQoL-Japanese Version and were able to be interviewed, had a Mini-Mental State score of 13 points or more. It was clarified that DQoL-Japanese Version was reliable and showed evidence of validity as well as the original DQOL.

Downregulation of EphA7 by hypermethylation in colorectal cancer.

A significant reduction of EphA7 expression in human colorectal cancers was shown using semiquantitative reverse transcription-polymerase chain reaction analysis in 59 colorectal cancer tissues, compared to corresponding normal mucosas (P=0.008), and five colon cancer cell lines. To investigate the mechanism of EphA7 downregulation in colorectal cancer, we examined the methylation status of the 5'CpG island around the translation start site in five colon cancer cell lines using restriction enzymes, methylation-specific PCR, and bisulfite sequencing and found evidence of aberrant methylation. The expression of EphA7 in colon cancer cell lines was restored after treatment with 5-aza-2'-deoxycytidine. Analysis of methylation status in totally 75 tumors compared to clinicopathological parameters revealed that hypermethylation of colorectal cancers was more frequent in male than in female (P=0.0078), and in moderately differentiated than in well-differentiated adenocarcinomas (P=0.0361). There was a tendency that hypermethylation in rectal cancers was more frequent than in colon cancers (P=0.0816). Hypermethylation was also observed in colorectal adenomas. This is the first report describing the downregulation of an Eph family gene in a solid tumor via aberrant 5'CpG island methylation. It provides the evidence that EphA7 gene is involved in human colorectal carcinogenesis.

Pilot study of arbitrarily primed PCR-single stranded DNA conformation polymorphism analysis for screening genetic polymorphisms related to specific phenotypes.

BACKGROUND: To investigate relationships between phenotypes and genotypes is not simple. We propose a phenotype-to-genotype screening strategy and pooled DNA system. As a pilot study of this strategy, we used arbitrarily primed polymerase chain reaction (AP-PCR) in combination with single-stranded DNA conformation polymorphism (SSCP) to screen for genetic polymorphisms associated with longevity. METHODS: Study subjects were separated into 3 age groups, individuals aged >100 years, 90-99 years and 60-69 years. Genomic DNAs were prepared from each individual, pooled to represent the 5 study groups, and then the pooled genomic DNAs were subjected to AP-PCR-SSCP analysis. RESULTS: We found 1 SNP more frequently in senior citizens with longevity. The genotype frequency of the 82133G>A polymorphism of human chromosome 3 clone RP11-61K12 (AC011199) differed significantly (P=0.0189, Fisher's exact test) between older subjects (>90 years) and younger subjects (<70 years). It is noteworthy that the strategy we describe herein was useful for identifying an SNP that showed statistically significant differences in its distribution across the subject groups. CONCLUSIONS: The pooled DNA strategy and quantitative genotype discrimination can also be applied to screening for the relationship between phenotype and genotype more effectively.