bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular Genetic Analysis of SLC3A1 and SLC7A9 Genes in Czech and Slovak Cystinuric Patients
Authors: Škopková Zuzana , Hrabincová Eva , Štástná Sylvie , Kozák Libor , Adam Tomáš 
Published: September 2005

SummaryCystinuria is a frequently inherited metabolic disorder in the Czech population (frequency 1/5,600) caused by a defect in the renal transport of cystine and dibasic amino acids (arginine, lysine and ornithine). The disease is characterized by increased urinary excretion of the amino acids and often leads to recurrent nephrolithiasis. Cystinuria is classified into two subtypes (type I and type non‐I). Type I is caused predominantly by mutations in the SLC3A1 gene (2p16.3), encoding heavy subunit (rBAT) of the heterodimeric transporter. Cystinuria non‐I type is caused by mutations in the SLC7A9 gene (19q13.1). In this study, we present results of molecular genetic analysis of the SLC3A1 and the SLC7A9 genes in 24 unrelated cystinuria families. Individual exons of the SLC3A1 and SLC7A9 genes were analyzed by direct sequencing. We found ten different mutations in the SLC3A1 gene including six novel ones: three missense mutations (G140R), D179Y and R365P), one splice site mutation (1137‐2A>G), one deletion (1515_1516delAA), and one nonsense mutation (Q119X). The most frequent mutation, M467T; was detected in 36% of all type I classified alleles. In the SLC7A9 gene we found six mutations including three new ones: one missense mutation (G319R), one insertion (611_612insA) and one deletion (205_206delTG). One patient was compound heterozygote for one SLC3A1 and one SLC7A9 mutation. Our results confirm that cystinuria is a heterogeneous disorder at the molecular level, and contribute to the understanding of the distribution and frequency of mutations causing cystinuria in the Caucasian population.
Using Tree‐Based Recursive Partitioning Methods to Group Haplotypes for Increased Power in Association Studies
Authors: Yu Kai , Xu Jun , Rao DC , Province Michael 
Published: September 2005

SummaryMotivated by the increasing availability of high‐density single nucleotide polymorphism (SNP) markers across the genome, various haplotype‐based methods have been developed for candidate gene association studies, and even for genome‐wide association studies. Although haplotype approaches dramatically reduce the multiple comparisons problem (as compared to single SNP analysis), even the number of existing haplotypes is relatively large, which increases the degrees of freedom and decreases the power for the corresponding test statistic. Grouping haplotypes is a way to reduce the degrees of freedom. We propose a procedure that uses a tree‐based recursive partitioning algorithm to group haplotypes into a small number of clusters, and conducts the association test based on groups of haplotypes instead of individual haplotypes. The method can be used for both population‐based and family‐based association studies, with known or ambiguous phase information. Simulation studies suggest that the proposed method has the right type I error rate, and is more powerful than some existing haplotype‐based tests.
The Genetics of the Pre‐Roman Iberian Peninsula: A mtDNA Study of Ancient Iberians
Authors: Sampietro M. L. , Caramelli D. , Lao O. , Calafell F. , Comas D. , Lari M. , Agustí B. , Bertranpetit J. , Lalueza‐Fox C. 
Published: September 2005

SummaryThe Iberians developed a surprisingly sophisticated culture in the Mediterranean coast of the Iberian Peninsula from the 6th century BC until their conquest by the Romans in the 2nd century BC. They spoke and wrote a non‐Indo‐European language that still cannot be understood; their origins and relationships with other non‐Indo‐European peoples, like the Etruscans, are unclear, since their funerary practices were based on the cremation of bodies, and therefore anthropology has been unable to approach the study of this people. We have retrieved mitochondrial DNA (mtDNA) from a few of the scarce skeletal remains that have been preserved, some of them belonging to ritualistically executed individuals. The most stringent authentication criteria proposed for ancient DNA, such as independent replication, amino‐acid analysis, quantitation of template molecules, multiple extractions and cloning of PCR products, have been followed to obtain reliable sequences from the mtDNA hypervariable region 1 (HVR1), as well as some haplogroup diagnostic SNPs. Phylogeographic analyses show that the haplogroup composition of the ancient Iberians was very similar to that found in modern Iberian Peninsula populations, suggesting a long‐term genetic continuity since pre‐Roman times. Nonetheless, there is less genetic diversity in the ancient Iberians than is found among modern populations, a fact that could reflect the small population size at the origin of the population sampled, and the heterogenic tribal structure of the Iberian society. Moreover, the Iberians were not especially closely related to the Etruscans, which points to considerable genetic heterogeneity in Pre‐Roman Western Europe.
Evidence by Expression Analysis of Candidate Genes for Congenital Heart Defects in the NF1 Microdeletion Interval
Authors: Venturin M. , Bentivegna A. , Moroni R. , Larizza L. , Riva P. 
Published: September 2005

SummaryIt was recently reported that congenital heart disease is significantly more frequent in patients with NF1 microdeletion syndrome than in those with classical NF1. The outcome of congenital heart disease in this subset of patients is likely caused by the haploinsufficiency of gene/s in the deletion interval. Following in silico analysis of the deleted region, we found two genes known to be expressed in adult heart, the Joined to JAZF1 (SUZ12) and the Centaurin‐alpha 2 (CENTA2) genes, and seven other genes with poorly defined patterns of expression and function. With the aim of defining their expression profiles in human fetal tissues (15th–21st weeks of gestation), expression analysis by RT‐PCR and Northern blotting was performed. C17orf40, SUZ12 and CENTA2 were found to be mainly expressed in fetal heart, and following RT‐PCR on mouse embryos and embryonic heart and brain at different stages of development, we found that the orthologous genes C17orf40, Suz12 and Centa2 are also expressed in early stages of development, before and during the formation of the four heart chambers.The presence of binding sites for Nkx2‐5, a transcription factor expressed early in heart development, in all three mouse orthologous genes was predicted by bioinformatics, thus reinforcing the hypothesis that these genes might be involved in heart development and may be plausible candidates for congenital heart disease.
After Adoption: Sustaining the Innovation A Case Study of Disseminating the Hospital Elder Life Program
Authors: Bradley Elizabeth H. , Webster Tashonna R. , Baker Dorothy , Schlesinger Mark , Inouye Sharon K. 
Published: September 2005

Objectives: To examine key factors that influence sustainability in the diffusion of the Hospital Elder Life Program (HELP) as an example of an evidence‐based, multifaceted, innovative program to improve care for hospitalized older adults.Design: Longitudinal, qualitative study between November 2000 and November 2003 based on 102 in‐depth interviews every 6 months during HELP implementation.Setting: Thirteen hospitals implementing HELP.Participants: Forty‐two hospital staff members (physician, nursing, volunteer, and administrative staff) implementing HELP, conducted 102 interviews.Measurements: Staff experiences sustaining the program, including challenges and strategies that they viewed as successful in addressing these challenges.Results: Of the 13 hospitals studied, 10 were sustaining HELP at the end of the study period; three terminated the program (after 24 months, 12 months, and 6 months). Critical factors were identified as influencing whether the program was sustained: the presence of clinical leadership, the ability and willingness to adapt the original HELP protocols to local hospital circumstances and constraints, and the ability to obtain longer‐term resources and funding for HELP.Conclusion: Recognizing the need for sustained clinical leadership and funding as well as the inevitable modifications required to sustain innovative programs can promote more‐realistic goals and expectations for health services researchers, clinicians, and policy makers in their laudable efforts to translate research into practice.
The Association Between Oral Health and General Health and Quality of Life in Older Male Cancer Patients
Authors: Ingram Sally S. , Seo Pearl H. , Sloane Richard , Francis Thomas , Clipp Elizabeth C. , Doyle Martha E. , Montana Gustavo S. , Cohen Harvey J. 
Published: September 2005

Objectives: To describe the long‐term effects of oral health problems on quality of life (QoL), functional status, pain, and general health in older male cancer patients.Design: Secondary analysis of a prospective observational study.Setting: Community dwelling cancer patients served by a Department of Veterans Affairs hospital.Participants: One hundred fifty male cancer patients responded to the question “Do you have tooth or mouth problems making it hard to eat?” The relationship between patients answering “yes” and the following parameters was assessed: demographics, comorbid conditions, habits, activities of daily living, pain, anxiety, depression, social support, spirituality, QoL, and overall health ratings.Measurements: Chi‐square contingency tables for dichotomous variables, Cochran‐Mantel‐Haenszel for ordered categorical variables, and t tests for associations with continuous variables.Results: The median age of respondents was 67. Those reporting tooth or mouth problems had had their cancer diagnosed on average 2.9 years before, and 83.3% were found clinically to be cancer free. Patients with these problems had significantly lower global (P=.003) and subscale scores on QoL analysis and higher levels of anxiety (P<.001) and depression (P=.01) than those without tooth or mouth problems; they also had significantly more pain (P<.001) and lower physical functioning (P<.001) and were more impaired in activities of daily living (P<.001). Those with tooth or mouth problems were more likely to describe their overall health as fair or poor (P=.01). Having cancer located in the head and neck region related significantly to having mouth or tooth problems (P=.005), but these problems were not associated with race, education, income, insurance coverage, age, comorbid conditions, alcohol consumption, tobacco or medication usage, type of cancer treatment, tumor stage at diagnosis or follow‐up, perceived social support, or spirituality.Conclusion: Older male cancer patients with mouth or tooth problems making it hard to eat are more likely to have a lower QoL, poorer emotional health, lower levels of physical functioning, and greater pain than patients without these problems.
Cognitive Status, Muscle Strength, and Subsequent Disability in Older Mexican Americans
Authors: Raji Mukaila A. , Kuo Yong‐Fang , Snih Soham Al , Markides Kyriakos S. , Kristen Peek M. , Ottenbacher Kenneth J. 
Published: September 2005

Objectives: To examine the association between Mini‐Mental State Examination (MMSE) score and subsequent muscle strength (measured using handgrip strength) and to test the hypothesis that muscle strength will mediate any association between impaired cognition and incident activity of daily living (ADL) disability over a 7‐year period in elderly Mexican Americans who were initially not disabled.Design: A 7‐year prospective cohort study (1993–2001).Setting: Five southwestern states (Texas, New Mexico, Colorado, Arizona, and California).Participants: Two thousand three hundred eighty‐one noninstitutionalized Mexican‐American men and women aged 65 and older with no ADL disability at baseline.Measurements: In‐home interviews in 1993/1994, 1995/1996, 1998/1999, and 2000/2001 assessed social and demographic factors, medical conditions (diabetes mellitus, stroke, heart attack, and arthritis), body mass index (BMI), depressive symptomatology, handgrip muscle strength, and ADLs. MMSE score was dichotomized as less than 21 for poor cognition and 21 or greater for good cognition. Main outcomes measures were mean and slope of handgrip muscle strength over the 7‐year period and incident disability, defined as new onset of any ADL limitation at the 2‐, 5‐, or 7‐year follow‐up interview periods.Results: In mixed model analyses, there was a significant cross‐sectional association between having poor cognition (MMSE<21) and lower handgrip strength, independent of age, sex, and time of interview (estimate=−1.41, standard error (SE)=0.18; P<.001). With the introduction of a cognition‐by‐time interaction term into the model, there was also a longitudinal association between poor cognition and change in handgrip strength over time (estimate=−0.25, SE=0.06; P<.001), indicating that subjects with poor cognition had a significantly greater decline in handgrip strength over 7 years than those with good cognition, independent of age, sex, and time. This longitudinal association between poor cognition and greater muscle decline remained significant (P<.001) after controlling for age, sex, education, and time‐dependent variables of depression, BMI, and medical conditions. In general estimation equation models, having poor cognition was associated with greater risk of 7‐year incident ADL disability (odds ratio=2.01, 95% confidence interval (CI)=1.60–2.52); the magnitude of the association decreased to 1.66 (95% CI=1.31–2.10) when adjustment was made for handgrip strength.Conclusion: Older Mexican Americans with poor cognition had steeper decline in handgrip muscle strength over 7 years than those with good cognition, independent of other demographic and health factors. A possible mediating effect of muscle strength on the association between poor cognition and subsequent ADL disability was also indicated.
Underutilization of Environmental Adaptations for Bathing in Community‐Living Older Persons
Authors: Naik Aanand D. , Gill Thomas M. 
Published: September 2005

Objectives: To determine the prevalence and utilization of environmental adaptations (home modifications and assistive devices) for bathing in community‐living older persons with and without bathing disability.Design: Cross‐sectional study.Setting: General community of greater New Haven, Connecticut.Participants: Five hundred sixty‐six community‐living persons aged 73 and older.Measurements: Trained research nurses performed a comprehensive assessment of bathing function, including an in‐home evaluation of the bathing environment and self‐reported utilization of environmental adaptations for bathing.Results: The prevalence of most environmental adaptations for bathing was less than 50% and was only modestly greater in participants with bathing disability (range 6–54%) than in those without bathing disability (2–44%), although important differences in prevalence and utilization were observed according to the type of bathing disability. Participants who had difficulty (without dependence) with bathing were significantly less likely to have most of the environmental adaptations than participants who needed personal assistance (dependence) with bathing. These differences persisted in analyses that specifically evaluated the utilization of environmental adaptations for bathing transfers according to the type of disability with bathing transfers (59% of those with difficulty vs 88% of those with dependence, P<.001).Conclusion: Potentially valuable environmental adaptations are absent from the homes of many older persons with bathing disability and may be particularly underused by older persons reporting difficulty with bathing. To ameliorate or delay the progression of disability in community‐living older persons, assessment and remediation strategies should be better targeted to bathing function across the continuum of disability.
Long‐Term Exercise Therapy Resolves Ethnic Differences in Baseline Health Status in Older Adults with Knee Osteoarthritis
Authors: Foy Capri Gabrielle , Penninx Brenda W. H. , Shumaker Sally A. , Messier Stephen P. , Pahor Marco 
Published: September 2005

Objectives: To determine whether ethnicity was associated with baseline and 18‐month health status within a merged sample of older adults with knee osteoarthritis (OA) from the Fitness Arthritis in Seniors Trial and the Arthritis, Diet, and Activity Promotion Trial.Design: Cross‐sectional and prospective study.Setting: Center‐based exercise therapy at two universities.Participants: A total of 584 African‐American (n=143) and Caucasian‐American (n=441) adults aged 60 and older with knee OA were examined for baseline and 18‐month health status.Measurements: Six‐minute‐walk distance, 36‐item Short Form General Health Scale (SF‐36 GHS), and Physical Functioning Questionnaire index score. Ethnicity was obtained via self‐report.Results: Analyses of covariance testing the effect of ethnicity, adjusted for demographic and health status covariates, revealed significant effects for ethnicity upon baseline 6‐minute‐walk distance and SF‐36 GHS, with Caucasian Americans reporting better scores (P=.001), although these differences were not significant after 18 months of exercise therapy.Conclusion: Ethnicity and baseline function are important factors that should not be overlooked in knee OA research involving exercise interventions. Moreover, not only should physical activity be recommended to improve functional outcomes, it may also be a useful strategy in reducing health disparities.
Effect of Individualized Social Activity on Sleep in Nursing Home Residents with Dementia
Authors: Richards Kathy Culpepper , Beck Cornelia , O'Sullivan Patricia S. , Shue Valorie M. 
Published: September 2005

Objectives: To test the efficacy of an individualized social activity intervention (ISAI) on decreasing daytime sleep, improving nighttime sleep, and lowering the day/night sleep ratio and to determine its cost.Design: Pretest/posttest randomized with an experimental and control group.Setting: Seven nursing homes.Participants: One hundred forty‐seven residents with dementia.Intervention: One to 2 hours of individualized social activities for 21 consecutive days.Measurements: Twenty‐four‐hour sleep/wake patterns using an Actigraph.Results: The ISAI group had significantly less daytime sleep (P=.001) and a lower day/night sleep ratio (P=.03) than the control group, after adjusting for baseline values. Because 40% of the sample slept 7 or more hours at night, a secondary analysis was conducted. When only those residents with a sleep efficiency of less than 50% (n=50) were included, the ISAI group (n=20) had less daytime sleep (P=.005), a lower day/night sleep ratio (P=.02), fell asleep faster (P=.03), and were awake less at night (P=.04) than the control group (n=30), after adjusting for baseline values. The weekly cost of the ISAI was roughly $70 per participant. Initial training and supply costs were $1,944.Conclusion: The ISAI provides an alternative to medications, without side effects.
Impact of Pain on Outcomes in Long‐Term Care Residents with and without Multiple Sclerosis
Authors: Newland Pamela K. , Wipke‐Tevis Deidre D. , Williams Donna A. , Rantz Marilyn J. , Petroski Gregory F. 
Published: September 2005

Objectives: To compare long‐term care (LTC) residents with and without multiple sclerosis (MS); to compare admission status of pain, physical disability, pressure ulcers, depression, and cognitive performance in LTC residents with and without MS; and to examine the impact of MS and pain on outcomes 90 and 180 days after LTC admission.Design: Retrospective analysis of a large data set.Setting: LTC facilities in Missouri.Participants: Residents admitted to non‐hospital‐based LTC facilities.Measurements: Minimum Data Set/Resident Assessment Instrument, Version 2.0; Activities of Daily Living Scale; Cognitive Performance Scale.Results: Residents with and without MS had similar pain prevalence and intensity after admission, with daily pain more frequent in residents with MS (P=.03). On admission, residents with MS had more physical disability (P<.001) and a greater prevalence of pressure ulcers (P=.004) and depression (P<.001) than residents without MS. In all LTC residents, initial pain status was associated with physical disability (P<.001), pressure ulcers (P<.001), depression (P<.001), and cognitive performance (P<.001) 90 and 180 days after admission. A diagnosis of MS was associated with physical disability (P<.001) 90 and 180 days after admission and pressure ulcer development 180 days after admission (P=.02).Conclusion: Residents with MS were more physically disabled and had more frequent pain and a higher prevalence of pressure ulcers and depression on admission than residents without MS. Pain, or lack thereof, in residents with and without MS on admission may warn of problems that could occur within 6 months after admission to a LTC facility.
Efficacy of a Comprehensive Geriatric Intervention in Older Patients Hospitalized for Hip Fracture: A Randomized, Controlled Trial
Authors: Vidán Maite , Serra José A. , Moreno Concepción , Riquelme Gerardo , Ortiz Javier 
Published: September 2005

Objectives: To evaluate whether an early multidisciplinary geriatric intervention in elderly patients with hip fracture reduced length of stay, morbidity, and mortality and improved functional evolution.Design: Randomized, controlled intervention trial.Setting: Orthopedic ward in a university hospital.Participants: Three hundred nineteen patients aged 65 and older hospitalized for hip fracture surgery.Intervention: Participants were randomly assigned to a daily multidisciplinary geriatric intervention (n=155) or usual care (n=164) during hospitalization in the acute phase of hip fracture.Measurements: Primary endpoints were in‐hospital length of stay and incidence of death or major medical complications. Secondary endpoints were the rate of recovery of previous activities of daily living and ambulation ability at 3, 6, and 12 months.Results: Median length of stay was 16 days in the geriatric intervention group and 18 days in the usual care group (P=.06). Patients assigned to the geriatric intervention showed a lower in‐hospital mortality (0.6% vs 5.8%, P=.03) and major medical complications rate (45.2% vs 61.7%, P=.003). After adjustment for confounding variables, geriatric intervention was associated with a 45% lower probability of death or major complications (95% confidence interval=7–68%). More patients in the geriatric intervention group achieved a partial recovery at 3 months (57% vs 44%, P=.03), but there were no differences between the groups at 6 and 12 months.Conclusion: Early multidisciplinary daily geriatric care reduces in‐hospital mortality and medical complications in elderly patients with hip fracture, but there is not a significant effect on length of hospital stay or long‐term functional recovery.