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1.
Perspectives of health and self‐care among older persons—To be implemented in an interactive information and communication technology‐platform
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Testing an app for reporting health concerns—Experiences from older people and home care nurses
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Bergmann C Senderek J Windelen E Küpper F Middeldorf I Schneider F Dornia C Rudnik-Schöneborn S Konrad M Schmitt CP Seeman T Neuhaus TJ Vester U Kirfel J Büttner R Zerres K;APN 《Kidney international》2005,67(3):829-848
BACKGROUND: ARPKD is associated with mutations in the PKHD1 gene on chromosome 6p12. Most cases manifest peri-/neonatally with a high mortality rate in the first month of life while the clinical spectrum of surviving patients is much more variable than generally perceived. METHODS: We examined the clinical course of 164 neonatal survivors (126 unrelated families) over a mean observation period of 6 years (range 0 to 35 years). PKHD1 mutation screening was done by denaturing high-performance liquid chromatography (DHPLC) for the 66 exons encoding the 4074 aa fibrocystin/polyductin protein. RESULTS AND CONCLUSION: This is the first study that reports the long-term outcome of ARPKD patients with defined PKHD1 mutations. The 1- and 10-year survival rates were 85% and 82%, respectively. Chronic renal failure was first detected at a mean age of 4 years. Actuarial renal survival rates [end point defined as start of dialysis/renal transplantation (RTX) or by death due to end-stage renal disease (ESRD)] were 86% at 5 years, 71% at 10 years, and 42% at 20 years. All but six patients (92%) had a kidney length above or on the 97th centile for age. About 75% of the study population developed systemic hypertension. Sequelae of congenital hepatic fibrosis and portal hypertension developed in 44% of patients and were related with age. Positive correlations could further be demonstrated between renal and hepatobiliary-related morbidity suggesting uniform disease progression rather than organ-specific patterns. PKHD1 mutation analysis revealed 193 mutations (70 novel ones; 77% nonconservative missense mutations). No patient carried two truncating mutations corroborating that one missense mutation is indispensable for survival of newborns. We attempted to set up genotype-phenotype correlations and to categorize missense mutations. In 96% of families we identified at least one mutated PKHD1 allele (overall detection rate 76.6%) indicating that PKHD1 mutation screening is a powerful diagnostic tool in patients suspected with ARPKD. 相似文献
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Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome 总被引:16,自引:0,他引:16
Ruf RG Schultheiss M Lichtenberger A Karle SM Zalewski I Mucha B Everding AS Neuhaus T Patzer L Plank C Haas JP Ozaltin F Imm A Fuchshuber A Bakkaloglu A Hildebrandt F;APN Study Group 《Kidney international》2004,66(2):564-570
BACKGROUND: Nephrotic syndrome (NS) represents the association of proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Steroid-resistant nephrotic syndrome (SRNS) is defined by primary resistance to standard steroid therapy. It remains one of the most intractable causes for end-stage renal disease (ESRD) in the first two decades of life. Sporadic mutations in the Wilms' tumor suppressor gene WT1 have been found to be present in patients with SRNS in association with Wilms' tumor (WT) and urinary or genital malformations, as well as in patients with isolated SRNS. METHODS: To further evaluate the incidence of WT1 mutations in patients with NS we performed mutational analysis in 115 sporadic cases of SRNS and in 110 sporadic cases of steroid-sensitive nephrotic syndrome (SSNS) as a control group. Sixty out of 115 (52%) patients with sporadic SRNS were male, 55/115 (48%) were female. Sex genotype was verified by haplotype analysis. Mutational analysis was performed by direct sequencing and by denaturing high-performance liquid chromatography (DHPLC). RESULTS: Mutations in WT1 were found in 3/60 (5%) male (sex genotype) cases and 5/55 (9%) female (sex genotype) cases of sporadic SRNS, and 0/110 (0%) sporadic cases of SSNS. One out of five female patients with mutations in WT1 developed a WT, 2/3 male patients presented with the association of urinary and genital malformations, 1/3 male patients presented with sexual reversal (female phenotype) and bilateral gonadoblastoma, and 4/5 female patients presented with isolated SRNS. CONCLUSION: According to the data acquired in this study, patients presenting with a female phenotype and SRNS and male patients presenting with genital abnormalities should especially be screened to take advantage of the important genetic information on potential Wilms' tumor risk and differential therapy. This will also help to provide more data on the phenotype/genotype correlation in this patient population. 相似文献
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Claire E. Lindberg RN PhD APN C Lynda B. Nolan RN MSN APN C 《Journal of obstetric, gynecologic, and neonatal nursing : JOGNN / NAACOG》2001,30(6):607-616
OBJECTIVE: To describe the decision-making process of women who choose hysterectomy for treatment of benign disease or distressing symptoms. DESIGN: Qualitative design based on grounded theory, using semistructured interviews. SETTING: Participants were interviewed in their homes or at their place of employment. PARTICIPANTS: Ten women who were premenopausal prior to hysterectomy. RESULTS: Decision making began when the women recognized abnormal body changes or bothersome symptoms. Four major processes were identified. "Seeking Solutions" was characterized by information seeking, information processing, and utilization of pharmacologic and nonpharmacologic treatments in an attempt to cure the disease and/or alleviate symptoms. "Holding On" included managing symptoms, rearranging activities of daily living to accommodate symptoms, and waiting. "Changing Course" was characterized by an abrupt change from Holding On to focusing on hysterectomy as the solution to the distressing symptoms. During "Taking Charge," the women displayed purposeful actions directed at arranging and preparing for surgery. CONCLUSIONS: Understanding the process of decision making will enable nurses to provide support for women who choose hysterectomy for treatment of benign gynecologic diseases and/or distressing gynecologic symptoms. Nurses' support of women's decision making should include referrals, education, and emotional support. In addition, nurses can help these women improve their quality of life by assisting them with symptom management. 相似文献
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Patterns of Depressive Symptoms in Children 总被引:1,自引:0,他引:1
Mary K. Bailey ND APN RN Jaclene A. Zauszniewski PhD RN-BC FAAN Marjorie M. Heinzer PhD APRN BC CRNP Marion Hemstrom-Krainess DNSc RN CS 《Journal of child and adolescent psychiatric nursing》2007,20(2):86-95
PROBLEM: Depressive symptoms in children have been linked to recurrent problems with depression, school problems, and risky health behaviors. Adolescent girls report depressive symptoms three to four times more frequently than adolescent boys. Few studies, however, have examined gender-related depressive symptoms in younger, school-aged children. METHODS: In the present study, gender differences in depressive symptoms in children ages 10-12 years were explored using the Children's Depression Inventory (CDI) with a convenience sample of 122 suburban middle-class public school fifth and sixth graders. FINDINGS: A distinct pattern of depressive symptom expression was found with girls reporting more internalizing and more negative self-esteem, and boys reporting more externalizing and more school problems. CONCLUSION: These findings suggest that despite similarities on a total depressive symptom score, there are distinct gender differences in depressive symptom expression that are identifiable before adolescence and may be associated with normative development. 相似文献
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Randomized controlled trial of a self‐efficacy enhancement program for the cardiac rehabilitation of Thai patients with myocardial infarction
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Nisakorn Vibulchai PhD RN Sureeporn Thanasilp DNS APN Sunida Preechawong PhD APN 《Nursing & health sciences》2016,18(2):188-195
This study examined the effects of a self‐efficacy enhancement program for the cardiac rehabilitation of Thai patients who had a myocardial infarction. Sixty‐six hospitalized patients of various ages and both genders were randomly assigned to either an experimental or a control group. Participants in the experimental group took part in three individualized in‐hospital education sessions and three weekly sessions of telephone counseling. The control group primarily engaged in a supervised exercise and activities of a daily living performance regimen, and received education in this regard. Self‐efficacy and functional status were measured via questionnaire. Four weeks after discharge, the experimental group was found to have significantly higher total self‐efficacy and functional status scores than the control group. In addition, the experimental group exhibited significantly higher subscale scores on social activity, household tasks, occupation, and exercise self‐efficacy than the control group. These results indicate that the program is effective in improving the self‐efficacy and functional status of Thai patients who have had a myocardial infarction. 相似文献