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71.
Lorraine N Clark Eneli Haamer Helen Mejia-Santana Juliette Harris Suzanne Lesage Alexandra Durr Sabine Janin Bs Katja Hedrich Elan D Louis Lucien J Cote Howard Andrews Stanley Fahn Cheryl Waters Blair Ford Steven Frucht William Scott Christine Klein Alexis Brice Hanno Roomere Ruth Ottman Karen Marder 《Movement disorders》2007,22(7):932-937
Parkin mutations account for the majority of familial and sporadic early onset Parkinson's disease (EOPD) cases with a known genetic association. More than 100 mutations have been described in the Parkin gene that includes homozygous, compound heterozygous, and single heterozygous mutations. We have designed a Parkin mutation genotyping array (gene chip) that includes published Parkin sequence variants and allows their simultaneous detection. The chip was validated by screening 85 PD cases and 47 controls previously tested for Parkin mutations. Similar genotyping microarrays have been developed for other genetically heterogeneous diseases including age-related macular degeneration. Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early-onset PD case probands and 45 relatives. 相似文献
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During reproductive maturation of female insects, the acquisition of sexual receptivity is coordinated with ovarian development. Juvenile homone regulates vitellogenesis in the ovaries, but the action of this hormone in the development of sexual behavior is less well-understood. A strain ofDrosophila melanogaster carrying a mutation in theapterous gene(ap
4) was known to exhibit arrested vitellogenesis (rescuable by applying exogenous juvenile hormone), sterility of both sexes, and a deficiency of juvenile hormone. In this study, we examined the effects of mutations ofap on female receptivity and its relationship to juvenile hormone. We observed abnormally low female receptivity in homozygousap strains, and heteroallelic combinations ofap mutations exhibited low receptivity. For female receptivity,ap showed no dominance (i.e.,ap/ap
+ was intermediate betweenap/ap andap
+/ap
+). Low receptivity mapped genetically to theap locus. The reduction in female receptivity in these mutants is positively correlated with levels of juvenile hormone synthesized by their corpora allata.This work was supported in part by The Scheinfeld Center for Humans Genetics in the Social Sciences (J.R.), The National Science Foundation (BNS-882 1339 to J.R.), BARD (No. IS-1664-89R to D.S.), The Israel Cancer Research Fund (grant to D.S.), The Rekanati Foundation of Tel Aviv University (grant to D.S.), and The Israeli Fruit Council (award to M.A.) 相似文献
77.
PURPOSE: The purposes of this study were to evaluate self-esteem over 3 years in the 469 myopic children participating in the Correction of Myopia Evaluation Trial (COMET), and to examine its relationship with lens assignment (progressive addition lenses [PALs] vs. single-vision lenses [SVLs]), myopia progression, and several other ocular and demographic characteristics. METHODS: Data collection included refractive error measurements, child-reported visual symptoms, attitude toward glasses, adherence, and self-esteem as measured by the Self-Perception Profile for Children (SPPC). A two-way analysis of variance (treatment group x time) was performed to examine whether PAL and SVL wearers differed in self-esteem over time. Multiple regression analyses were used to evaluate associations between self-esteem at follow-up and relevant factors identified by univariate analyses. RESULTS: Regardless of lens assignment or myopia progression, COMET children reported moderate to high levels of self-esteem at follow-up in the areas of scholastic and athletic competence, physical appearance, social acceptance, behavioral conduct, and global self-worth. Mean scores ranged from 2.87 (+/- 0.68) on athletic competence to 3.40 (+/- 0.56) on global self-worth. Self-esteem changed significantly (p < 0.05) over 3 years in the domains of scholastic competence, social acceptance, and physical appearance. Self-esteem at follow-up was associated with visual symptoms, attitude toward glasses, age, gender, and ethnicity. CONCLUSIONS: Lens assignment and myopia progression were not associated with self-esteem in the COMET cohort. These children had high levels of self-esteem, suggesting that having myopia does not negatively impact self-esteem. Follow-up reports will monitor self-esteem and related factors in this cohort of myopic children over the course of adolescence and early adulthood. 相似文献
78.
Susan Midthun Ruth Paur A Wayne Bruce 《Journal of wound, ostomy, and continence nursing》2006,33(4):396-400
The urinary tract accounts for nearly one third of all infections in the long-term care setting. This article reviews factors that influence nitrite and leukocyte esterase results obtained from traditional urine dipstick analysis for assessment of urinary tract infections in elderly long-term care residents. This article also proposes a protocol for a urine dipstick pressed into an incontinence pad as an alternative to dipstick analysis of a clean-catch or catheterized urine specimen. 相似文献
79.
PURPOSE: Men have a lower uptake of genetic services than women; however, the specific needs and preferences of men at risk of genetic conditions other than hereditary breast ovarian cancer are not known. We ascertain the information preferences of men with a family history of prostate cancer. METHODS: Unaffected men and their partners were administered a written questionnaire. RESULTS: Responses were received from 280 men (response rate: 59.2%) and 174 partners (response rate: 74%). Most men (59.6%) reported having insufficient information about their risk and wanted further information about personal risk (93.2%) and risk management (93.6%). Strikingly, 56.3% preferred to receive information related only to positive outcomes. Urologists were the preferred source of information, but there was considerable interest in a multidisciplinary service approach significantly associated with the number of affected relatives (odds ratio = 1.94, P < .002). Partners' level of concern was not associated with interest in multidisciplinary services, satisfaction with information, or support received. CONCLUSIONS: Delivering services to men at risk will require a multifaceted approach by primary care providers and specialists. Challenges include meeting men's expectations in the face of uncertain medical knowledge, engaging those at high risk in multidisciplinary services, and delivering tailored information to those at lower risk. 相似文献
80.
Addressing Couples' Sexuality Concerns During the Childbearing Period: Use of the PLISSIT Model 总被引:1,自引:0,他引:1
Ruth R. Alteneder CNM PhD Deborah Hartzell RN MSN 《Journal of obstetric, gynecologic, and neonatal nursing : JOGNN / NAACOG》1997,26(6):651-658
During pregnancy, a couple may benefit from discussing sexuality concerns with a nurse. Couples indicate they do not receive this support, and frequently nurses state they do not have the knowledge, time, or skills to provide patient education regarding sexuality. The PLISSIT model provides a framework for developing and implementing interventions to assist clients in maintaining their sexual relationship throughout the childbearing experience. 相似文献