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71.
Maya S. Madzharova Peter Sturmey J. Helen Yoo 《Journal of developmental and physical disabilities》2018,30(3):329-337
Behavior intervention plans (BIPs), implemented with high treatment integrity, are effective in decreasing challenging behaviors in individuals with autism spectrum disorder (ASD). High treatment integrity requires staff training such as Behavioral Skills Training (BST). Modeling and feedback alone, however, have been shown to be briefer and as effective as BST. Due to limited resources educational settings may prefer briefer training models to train staff to implement BIPs. This study used only two of the BST components, in-vivo modeling and feedback, to train three classroom staff members to implement a complex BIP. All three staff acquired the skills rapidly. 相似文献
72.
73.
Iftikhar J. Kullo Janet Olson Xiao Fan Merin Jose Maya Safarova Carmen Radecki Breitkopf Erin Winkler David C. Kochan Sara Snipes Joel E. Pacyna Meaghan Carney Christopher G. Chute Jyoti Gupta Sheethal Jose Eric Venner Mullai Murugan Yunyun Jiang Magdi Zordok Stephen N. Thibodeau 《Mayo Clinic proceedings. Mayo Clinic》2018,93(11):1600-1610
Objectives
To identify clinically actionable genetic variants from targeted sequencing of 68 disease-related genes, estimate their penetrance, and assess the impact of disclosing results to participants and providers.Patients and Methods
The Return of Actionable Variants Empirical (RAVE) Study investigates outcomes following the return of pathogenic/likely pathogenic (P/LP) variants in 68 disease-related genes. The study was initiated in December 2016 and is ongoing. Targeted sequencing was performed in 2533 individuals with hyperlipidemia or colon polyps. The electronic health records (EHRs) of participants carrying P/LP variants in 36 cardiovascular disease (CVD) genes were manually reviewed to ascertain the presence of relevant traits. Clinical outcomes, health care utilization, family communication, and ethical and psychosocial implications of disclosure of genomic results are being assessed by surveys, telephone interviews, and EHR review.Results
Of 29,208 variants in the 68 genes, 1915 were rare (frequency <1%) and putatively functional, and 102 of these (60 in 36 CVD genes) were labeled P/LP based on the American College of Medical Genetics and Genomics framework. Manual review of the EHRs of participants (n=73 with P/LP variants in CVD genes) revealed that 33 had the expected trait(s); however, only 6 of 45 participants with non–familial hypercholesterolemia (FH) P/LP variants had the expected traits.Conclusion
Expected traits were present in 13% of participants with P/LP variants in non-FH CVD genes, suggesting low penetrance; this estimate may change with additional testing performed as part of the clinical evaluation. Ongoing analyses of the RAVE Study will inform best practices for genomic medicine. 相似文献74.
75.
76.
Maya?Rosman Orna?Rachminov Omer?Segal Gad?SegalEmail author 《BMC health services research》2015,15(1):246
Background
Prolonged, inappropriate hospital stay after patients’ eligibility for discharge from internal medicine departments is a world-wide health-care systems’ problem. Nevertheless, the extent to which such surplus hospital stays are associated with infectious complications, their time frame of appearance and their long-term implications was not previously addressed.Methods
We conducted a retrospective cohort analysis of patients experiencing an In-hospital Waiting Period (IHWP) after discharge eligibility in a single, tertiary hospital.Results
We screened the records of 245 patients out of which 104 patients fulfilled our inclusion criteria. The mean length of IHWP was 15.7?±?4.79 day during which 9(8.7 %) patients died. The study primary composite end-point, in-hospital mortality or hospital acquired infection (pneumonia, UTI or sepsis) occurred in 32(31 %) patients. The most hazardous time was during the first 3 IHWP days: 63.7 % of patients experienced a complication and 44 % of the total complications occurred during this period. The occurrence of any complication during IHWP was associated, with statistical significance, with increased risk of mortality during the first year after IHWP initiation (HR?=?6.02, p?=?0.014).Conclusion
Prolongation of hospital stay after patients are deemed to be discharged from internal medicine departments is associated with increased morbidity and mortality, mainly during the first surplus days of in-hospital stay. Efforts should be made to shorten such hospital stays as much as possible.77.
Roy S Sharom JR Houde C Loisel TP Vaillancourt JP Shao W Saleh M Nicholson DW 《Proceedings of the National Academy of Sciences of the United States of America》2008,105(11):4133-4138
Caspase-12 is a dominant-negative regulator of caspase-1 (IL-1beta-converting enzyme) and an attenuator of cytokine responsiveness to septic infections. This molecular role for caspase-12 appears to be akin to the role of cFLIP in regulating caspase-8 in the extrinsic cell death pathway; however, unlike cFLIP/Usurpin, we demonstrate here that caspase-12 is catalytically competent. To examine these catalytic properties, rat caspase-12 was cloned, and the recombinant enzyme was used to examine the cleavage of macromolecular and synthetic fluorogenic substrates. Although caspase-12 could mediate autoproteolytic maturation of its own proenzyme, in both cis and trans, it was not able to cleave any other polypeptide substrate, including other caspase proenzymes, apoptotic substrates, cytokine precursors, or proteins in the endoplasmic reticulum that normally undergo caspase-mediated proteolysis. The dearth of potential substrates for caspase-12 also was confirmed by whole-cell diagonal-gel analysis. Autolytic cleavage within the caspase-12 proenzyme was mapped to a single site at the large-small subunit junction, ATAD(319), and this motif was recognized by caspase-12 when incorporated into synthetic fluorogenic substrates. The specific activity of caspase-12 with these substates was several orders of magnitude lower than caspases-1 and -3, highlighting its relative catalytic paucity. In intact cells, caspase-12 autoproteolysis occurred in the inhibitory complex containing caspase-1. We propose that the proteolytic activity of caspase-12 is confined to its own proenzyme and that autocleavage within the caspase-1 complex may be a means for temporal limitation of the inhibitory effects of caspase-12 on proinflammatory cytokine maturation. 相似文献
78.
79.
J. Müller G. Wallukat Yu-Guo Weng M. Dandel S. Spiegelsberger S. Semrau K. Brandes H. Bieda M. Hummel M. Loebe R. Meyer R. Hetzer 《Herz》1997,22(5):227-236
Zusammenfassung
Hintergrund Die Implantation eines mechanischen Herzunterstützungssystem (MCSS) bei Patienten mit idiopathischer dilatativer Kardiomyopathie
im Endstadium kann zu einer Verbesserung der Herzfunktion führen und die Explantation des Systems erlauben. Wir berichten
über die Effekte der ventrikul?ren Entlastung auf die Herzfunktion, die humoralen Anti-β1-Adrenozeptor-Autoantik?rper (A-β1-AAK) sowie die myokardiale Fibrose.
Methoden 13 Patienten mit nichtisch?mischer dilatativer Kardiomyopathie im Endstadium (NYHA IV-D) erhielten ein monoventrikul?res (zw?lf
Patienten) oder ein biventrikul?res (ein Patient) Herzentlastungssystem. Alle hatten zur Zeit der Implantation einen Cardiac
Index <1,61·min−1·m2 K?rperoberfl?che, eine linksventrikul?re Auswurffraktion (LVEF) von <16%, einen linksventrikul?ren enddiastolischen Diameter
(LVEDd)>68 mm und einen positiven A-β1-AAK-Nachweis. Echokardiographische Auswertungen, Serumtests auf A-β1-AAK und histologische Untersuchungen hinsichtlich myokardialer Fibrose wurden vor und nach Implantation eines MCSS durchgeführt.
Ergebnisse Die durchschnittliche Unterstützungsdauer betrug 236±201 Tage (30 bis 794 Tage). Innerhalb dieses Zeitraums verbesserte sich
die LVEF von ≤15 auf im Durchschnitt 46% und der LVEDd von 74 auf 56 mm. Die A-β1-AAK waren nach im Mittel 11,7 Wochen im Serum nicht mehr nachweisbar. Ein Wiederanstieg konnte auch nach Explantation bei
keinem Patienten beobachtet werden. Ein hochpathologischer Fibroseanteil im Myokard war etwa ein Jahr nach Explantation ebenfalls
nicht mehr zu beobachten. Ein Patient dekompensierte sechs Monate nach Explantation und wurde daraufhin mit einem externen
monoventrikul?ren System unterstützt. Die nachfolgende Transplantation verlief erfolgreich. Ein weiterer Patient starb unmittelbar
nach Explantation an der Folge einer an?sthesiologischen Komplikation. Die mittlere Nachbeobachtungsdauer bei elf Patienten
nach Explantation betr?gt (Stand 31. 5. 1997) 12,6±9,77 Monate (drei bis 26 Monate). Kumulativ konnten 139 Patientenmonate
nachbeobachtet werden.
Schlu?folgerung Bei ausgew?hlten Patienten mit terminaler idiopathischer dilatativer Kardiomyopathie kann durch eine tempor?re mechanische
Herzunterstützung eine weitgehende Normalisierung der Herzfunktion erreicht werden. Die pr?operative myokardiale Fibrose ist
ein Jahr nach Explantation nicht mehr nachweisbar. Die A-β1-AAK verschwinden in der Phase der mechanischen Entlastung des Herzens und treten nach Explantation des Systems nicht mehr
auf. “Weaning” von der mechanischen Herzunterstützung kann eine Alternative zur Herztransplantation darstellen.
相似文献
80.
Heijckmann AC Huijberts MS Geusens P de Vries J Menheere PP Wolffenbuttel BH 《European journal of endocrinology / European Federation of Endocrine Societies》2005,153(1):23-29
OBJECTIVE: Untreated hyperthyroidism and treatment with high doses of thyroid hormone are associated with osteoporosis. However, their effect on bone turnover, their contribution to bone mineral density (BMD) in the context of other clinical risk factors for osteoporosis and the prevalence of vertebral fractures is not well documented. DESIGN: Cross-sectional study. METHODS: We studied 59 patients receiving L-thyroxine suppressive therapy for differentiated thyroid carcinoma (DTC). BMD of the hip was measured by dual X-ray absorptiometry (DXA) and lateral DXA pictures of the lumbar and thoracic vertebrae were performed. Bone resorption was measured by C-telopeptides of type I collagen (ICTP) and bone formation by procollagen type I N-propeptide (PINP). Clinical risk factors for osteoporosis were evaluated using a questionnaire. RESULTS: Z-scores of BMD were similar as the NHANES (National Health and Nutrition Examination Survey) III reference group in women and men, also after long-term (> 10 years) suppression therapy. Patients in the lowest and highest quartile of BMD showed significant differences in the presence of clinical risk factors. ICTP levels were significantly higher than in age-matched controls, PINP levels were not different. We found four patients with a prevalent vertebral fracture. CONCLUSIONS: We conclude that patients with well-differentiated thyroid carcinoma are not at increased risk of developing low bone mass nor have a higher prevalence of vertebral fracture at least when treated with relatively low doses of L-thyroxine. 相似文献