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31.
32.
Amalia S. Magaret Jack Salerno Jason F. Deen Margaret Kloster Nicole Mayer-Hamblett Bonnie W. Ramsey Dave P. Nichols 《Journal of cystic fibrosis》2021,20(2):e16-e18
Chronic Azithromycin (AZM) is a common treatment for lung infection. Among adults at risk of cardiac events, AZM use has been associated with cardiovascular harm. We assessed cardiovascular safety of AZM among children with CF, as a secondary analysis of a placebo-controlled, clinical trial, in which study drug was taken thrice-weekly for a planned 18 months. Safety assessments using electrocardiogram (ECG) occurred at study enrollment, and then after 3 weeks and 18 months of participation. Among 221 study participants with a median of 18 months follow-up, increased corrected QT interval (QTc) of ≥30 msec was rare, at 3.4 occurrences per 100 person-years; and incidence of QTc prolongation was no higher in the AZM arm than the placebo arm (1.8 versus 5.4 per 100 person-years). No persons experienced QTc intervals above 500 msec. Long-term chronic AZM use was not associated with increased QT prolongation. 相似文献
33.
Parith Wongkittichote Tae-Ik Choi Oc-Hee Kim Kacie Riley Dwight Koeberl Vinodh Narayanan Keri Ramsey Chris Balak Charles E. Schwartz Anna Maria Cueto-Gonzalez Francina Munell Casadesus Cheol-Hee Kim Marwan S. Shinawi 《Clinical genetics》2023,103(2):167-178
ZC4H2 (MIM# 300897) is a nuclear factor involved in various cellular processes including proliferation and differentiation of neural stem cells, ventral spinal patterning and osteogenic and myogenic processes. Pathogenic variants in ZC4H2 have been associated with Wieacker-Wolff syndrome (MIM# 314580), an X-linked neurodevelopmental disorder characterized by arthrogryposis, development delay, hypotonia, feeding difficulties, poor growth, skeletal abnormalities, and dysmorphic features. Zebrafish zc4h2 null mutants recapitulated the human phenotype, showed complete loss of vsx2 expression in brain, and exhibited abnormal swimming and balance problems. Here we report 7 new patients (four males and three females) with ZC4H2-related disorder from six unrelated families. Four of the 6 ZC4H2 variants are novel: three missense variants, designated as c.142T>A (p.Tyr48Asn), c.558G>A (p.Met186Ile) and c.602C>T (p.Pro201Leu), and a nonsense variant, c.618C>A (p.Cys206*). Two variants were previously reported : a nonsense variant c.199C>T (p.Arg67*) and a splice site variant (c.225+5G>A). Five patients were on the severe spectrum of clinical findings, two of whom had early death. The male patient harboring the p.Met186Ile variant and the female patient that carries the p.Pro201Leu variant have a relatively mild phenotype. Of note, 4/7 patients had a tethered cord that required a surgical repair. We also demonstrate and discuss previously under-recognized phenotypic features including sleep apnea, arrhythmia, hypoglycemia, and unexpected early death. To study the effect of the missense variants, we performed microinjection of human ZC4H2 wild-type or variant mRNAs into zc4h2 null mutant zebrafish embryos. The p.Met186Ile mRNA variant was able to partially rescue vsx2 expression while p.Tyr48Asn and p.Pro201Leu mRNA variants were not. However, swimming and balance problems could not be rescued by any of these variants. These results suggest that the p.Met186Ile is a hypomorphic allele. Our work expands the genotypes and phenotypes associated with ZC4H2-related disorder and demonstrates that the zebrafish system is a reliable method to determine the pathogenicity of ZC4H2 variants. 相似文献
34.
Sumner W Hagen MD Rovinelli R 《Advances in health sciences education : theory and practice》1999,4(1):49-66
The American Board of Family Practice (ABFP) is developing a computer-based testing system that will create realistic clinical encounters using an adaptation of an item generation process. Simulated patients' entire lives will be stochastically produced from a knowledge base, with constraints applied to prevent implausible simulations. The constraint mechanisms include knowledge acquisition decisions about grouping closely related medical concepts and widespread use of Bayesian networks to manage dependencies between concepts. Bayesian networks and fuzzy definitions provide stochastic variability between simulations produced from the same data. Examinees will interact with these patients using a large and stable set of queries and interventions. Multiple management plans associated with patient simulations provide a framework for scoring performance. All major components, including Health States, history generating "Lead To" objects, and Plans are reusable and often substitutable. Although initial knowledge acquisition demands are enormous, the system has good potential for low cost maintenance of content areas, and economies of scale as simulations and components are reused. 相似文献
35.
R D Etzioni E J Feuer S D Sullivan D Lin C Hu S D Ramsey 《Journal of health economics》1999,18(3):365-380
Measurement of treatment costs is important in the evaluation of medical interventions. Accurate cost estimation is problematic, when cost records are incomplete. Methods from the survival analysis literature have been proposed for estimating costs using available data. In this article, we clarify assumptions necessary for validity of these techniques. We demonstrate how assumptions needed for valid survival analysis may be violated when these methods are applied to cost estimation. Our observations are confirmed through simulations and empirical data analysis. We conclude that survival analysis approaches are not generally appropriate for the analysis of medical costs and review several valid alternatives. 相似文献
36.
Summary The cortical imaging technique (CIT), a mathematical method for simulating the potential fields on the surface of the brain, was used to analyze the spatio-temporal progression of the AEP P300 component (as well as the preceding and subsequent N2a and N3 components) from thirty normal adult subjects recorded in a standard oddball paradigm. Comparisons were made between the progressions of the endogenous event-related cognitive potentials and the exogenous stimulus-dependent potentials (Nl component). Cortical imaging results suggest that different and multiple generator sites are involved in the production of exogenous and endogenous evoked responses. We particularly note the asymmetric development of the P300 component and the apparent anterior generator sites for the N2a component. This last result is interesting because the N2a precedes the P300 component and supports an earlier frontal contribution. 相似文献
37.
38.
A simple auto-evaluation sheet is presented for the proper assessment of the patient's condition after surgery. Stress is
put not only on weight loss, but on other important factors as well. 相似文献
39.
Increased expression and secretion of interleukin-6 in patients with Barrett's esophagus. 总被引:6,自引:0,他引:6
40.
Karch LA Mattos MA Henretta JP McLafferty RB Ramsey DE Hodgson KJ 《Journal of vascular surgery》2000,31(5):880-887
OBJECTIVE: Anatomic patency after percutaneous transluminal angioplasty (PTA) of the superficial femoral and popliteal arteries does not guarantee clinical success. The aim of this report is to determine the causes of clinical failure after PTA. METHODS: The records of all patients who have undergone PTA of the femoropopliteal arterial segment by our vascular group were retrospectively reviewed. Only patients with complete records and at least one postprocedure clinical and anatomic assessment within the same 30-day time interval were included. Success was defined according to the Society for Vascular Surgery/International Society for Cardiovascular Surgery Ad Hoc Subcommittee on Reporting Standards for Endovascular Procedures. Anatomic cumulative patency and clinical success were calculated according to life table analysis on an intent-to-treat basis. RESULTS: We identified 85 patients who met inclusion criteria. We treated 112 lesions with an average stenosis of 80% +/- 16% and lesion length of 2.3 +/- 1.8 cm. Technical failure occurred in six (5.4%) of 112 lesions. Cumulative clinical success was 69% at 1 year, 54% at 2 years, 49% at 3 years, and 40% at 4 years. Anatomic patency was 74% at 1 year, 62% at 2 years, 57% at 3 years, and 52% at 4 years. There were 45 clinical failures; of these, twenty-seven (60%) occurred in conjunction with anatomic failure. Anatomic failure was due to restenosis in 12 patients (44%), occlusion in eight patients (30%), and restenosis with progression of disease in six patients (22%). Anatomic failure at the time of the procedure occurred in one patient (4%). Clinical failure occurred despite anatomic patency in the remaining 18 patients (40%). Etiology for clinical failure in this latter group included progression of disease within the treated vessel in 12 patients (67%), iliac disease in three patients (17%), tibial disease in two patients (11%), and bypass graft failure in one patient (5%). Fifty percent of all 45 clinical failures were successfully treated with supplemental percutaneous procedures. CONCLUSION: A PTA is an acceptable therapeutic option for the treatment of focal occlusive disease of the femoropopliteal arterial segment. Most clinical failures were due to anatomic failure, but a significant number occurred despite patency at the PTA site. Although primary clinical success rates were inferior to surgical bypass graft, supplemental PTA was possible in 50% of patients. Repeat percutaneous treatment may extend the interval of clinical success and may obviate the need for surgical bypass graft. 相似文献