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排序方式: 共有1220条查询结果,搜索用时 31 毫秒
11.
Yuri A. Zarate Luigi Boccuto Sujata Srikanth Rini Pauly Eylem Ocal Tonya Balmakund Kevin Hinkle Vikki Stefans Gerald B. Schaefer Ronnie Thomas Collins II 《American journal of medical genetics. Part A》2019,179(6):1047-1052
Kosaki overgrowth syndrome is a recently described syndrome characterized by distinctive facial features, brain white matter lesions, and developmental delay. Germline activating heterozygous PDGFRB mutations have been reported in this condition. Systemic connective tissue‐type findings have been described in some individuals. We describe a 19‐year‐old Caucasian female with a history of hydrocephalus, Dandy–Walker malformation, cervical spine arachnoid cyst, progressive scoliosis, and overgrowth. Her physical exam included distinctive craniofacial dysmorphism, as well as soft and hyperextensible skin. Cardiovascular imaging during adolescence revealed saccular aneurysms in both coronary artery systems and subtle tortuosity of the cervical vertebral arteries. Exome sequencing trio analysis identified a de novo previously reported pathogenic variant in PDGFRB, c.1696T>C (p.[Trp566Arg]). Further functional studies included platelet‐derived growth factor cellular metabolic pathway activity that confirmed the variant causes a constitutive activation of the PI3K‐AKT pathway. This is the first report to characterize the activating nature of this PDGFRB variant. We also highlight the connective tissue findings seen in Kosaki overgrowth syndrome and recommend baseline echocardiographic evaluation in all individuals with this condition with particular emphasis on coronary arteries. 相似文献
12.
Cline CM Broms K Willenheimer RB Israelsson BA Erhardt LR 《The American journal of geriatric cardiology》1996,5(4):10-14
The objective of this study is to describe the occurrence of readmissions due to congestive heart failure (CHF) in an elderly population and to give insight into the costs associated with readmissions. Two hundred and seven patients ages 65-84, hospitalized due to CHF, were included in the analysis. Seventy-six patients (37%) were readmitted due to CHF within 1 year including 32 (16 %) readmitted within 30 days. The patients with early readmissions had a significantly shorter index hospitalization compared to those not readmitted. The total cost for hospitalization due to CHF was 7,739,488 SEK (8 SEK to $1US). Readmissions accounted for 41% of this amount. We conclude that readmissions are common in patients with CHF and that the frequencyof early readmissions for CHF may be related to the duration of prior hospitalization. Early discharge may lead to increased health care expenditure due to a high frequency of readmissions. 相似文献
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Brainstem maturation after antenatal steroids exposure in premature infants as evaluated by auditory brainstem-evoked response. 总被引:2,自引:0,他引:2
Sanjiv B Amin Mark S Orlando Larry E Dalzell Kathleen S Merle Ronnie Guillet 《Journal of perinatology》2003,23(4):307-311
OBJECTIVE: Antenatal steroids result in fetal lung maturation, but may retard brain development. Auditory brainstem-evoked response (ABR) is a noninvasive assessment of brainstem maturation. The objective of this study was to determine if antenatal steroids affect brainstem maturation in infants =32 weeks gestational age (GA). DESIGN/METHODS: Bilateral monaural ABR were performed within the first 24 hours using 80 db nHL unfiltered click stimuli at a repetition rate of 39.9/seconds. ABR waveforms were categorized into Response Types based on response replicability and peak identification. Absolute wave latencies and interpeak latencies were measured when applicable. Data were collected for antenatal steroid exposure, mode of delivery, chorioamnionitis in utero, exposure to illicit drugs, exposure to magnesium sulfate, mechanical ventilation and 5 minute Apgar score <5 minute. Infants with TORCH infections, unstable conditions, and chromosomal disorders were excluded. RESULTS: Of 186 infants studied, 130 received antenatal steroids. Data were analyzed in 2 week GA intervals. There was a significant difference (P<0.05) in race (29 vs 39% African-American), birth weight (1231 vs 1416 gm) and use of magnesium sulfate (60 vs 32%) among infants who did and did not receive antenatal steroids, respectively. There was no significant difference in the other parameters measured. Even after controlling for confounding variables, there was no difference between absolute wave latencies or interpeak latencies between groups at either 28 to 29 weeks' or 30 to 31 weeks' postmenstrual age. There was no significant difference in frequency distribution of ABR waveform Response Types between groups. CONCLUSIONS: Antenatal steroids have neither a deleterious nor beneficial effect on brainstem maturation as measured by ABR in infants at =32 weeks GA. 相似文献
14.
Increased expression and secretion of interleukin-6 in patients with Barrett's esophagus. 总被引:6,自引:0,他引:6
15.
Tissue factor expression correlates with tumor angiogenesis and invasiveness in human hepatocellular carcinoma. 总被引:23,自引:0,他引:23
Ronnie Tung-Ping Poon Cecilia Pik-Yuk Lau Joanna Wen-Ying Ho Wan-Ching Yu Sheung-Tat Fan John Wong 《Clinical cancer research》2003,9(14):5339-5345
PURPOSE: Recent studies have shown that tissue factor (TF) may be involved in tumor angiogenesis and metastasis. The role of TF in hepatocellular carcinoma (HCC) was unknown. This study evaluated whether TF expression correlates with microvessel density (MVD), vascular endothelial growth factor (VEGF) expression, tumor invasiveness, and prognosis in human HCC. EXPERIMENTAL DESIGN: Tissue samples were obtained from 58 specimens of resected HCC. Immunohistochemical expression of TF was examined, and tumor MVD was evaluated using CD34 as the endothelial marker. TF and VEGF protein levels in the tumor cytosol were quantified by ELISA. Clinicopathologic and follow-up data of patients were prospectively collected. RESULTS: The immunohistochemical expression of TF in the tumors correlated significantly with tumor MVD (P = 0.002). The median cytosolic TF protein level in the tumors was 720 pg/mg total protein (range, 67-2406 pg/mg total protein). A significant positive correlation was found between TF and VEGF levels in the tumor cytosol (r = 0.475, P < 0.001). High tumor cytosolic TF level was associated with venous invasion (P = 0.004), microsatellite nodules (P = 0.024), unencapsulated tumor (P = 0.007), and advanced tumor stage (P = 0.010). A higher than median tumor cytosolic TF level was an independent predictor of poor survival (risk ratio, 1.836; 95% confidence interval 1.130-5.312, P = 0.023). CONCLUSIONS: This study shows that TF is related to tumor angiogenesis and invasiveness in HCC. Evaluation of tumor TF expression may be useful as a prognostic indicator in patients with HCC. 相似文献
16.
Catherine A Foss Ronnie C Mease Hong Fan Yuchuan Wang Hayden T Ravert Robert F Dannals Rafal T Olszewski Warren D Heston Alan P Kozikowski Martin G Pomper 《Clinical cancer research》2005,11(11):4022-4028
PURPOSE: Prostate-specific membrane antigen (PSMA) is a cell surface protein that is overexpressed in prostate cancer, including hormone-refractory and metastatic disease. Our goal in this study was to develop a series of PSMA-based imaging agents for clinical use. EXPERIMENTAL DESIGN: We have synthesized and evaluated the in vivo biodistribution of two radiolabeled urea derivatives that have high affinity for PSMA in severe combined immunodeficient mice harboring MCF-7 (breast, PSMA-negative), PC-3 (prostate, PSMA-negative), and LNCaP (prostate, PSMA-positive) xenografts. Radiopharmaceutical binding selectivity and tumor uptake were also evaluated in vivo using dedicated small animal positron emission tomography, single photon emission computed tomography, and gamma scintigraphic imaging devices. N-[N-[(S)-1,3-dicarboxypropyl]carbamoyl]-S-[(11)C]methyl-L-cysteine ([(11)C]DCMC K(i), 3.1 nmol/L) and N-[N-[(S)-1,3-dicarboxypropyl]carbamoyl]-S-3-[(125)I]iodo-L-tyrosine ([(125)C]DCIT K(i), 1.5 nmol/L) were synthesized using [(11)C]CH(3)I and with [(125)I]NaI/Iodogen, respectively.RESULTS: At 30 minutes postinjection, [(11)C]DCMC and [(125)I]DCIT showed tumor/muscle ratios of 10.8 and 4.7, respectively, with clear delineation of LNCaP-derived tumors on imaging. MCF-7- and PC-3-derived tumors showed significantly less uptake of [(11)C]DCMC or [(125)I]DCIT. CONCLUSION: These results show the feasibility of imaging PSMA-positive prostate cancer using low molecular weight agents. 相似文献
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