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排序方式: 共有78条查询结果,搜索用时 15 毫秒
1.
Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome 总被引:2,自引:0,他引:2
Hoffman WH Jueppner HW Deyoung BR O'dorisio MS Given KS 《American journal of medical genetics. Part A》2005,134(3):233-236
We report on an adolescent who experienced the onset of linear nevus sebaceous syndrome (LNSS) prior to 1 year of age. At 7 years of age he was diagnosed to have hypophosphatemic rickets. He was suboptimally controlled with phosphate and calcitriol treatment and sustained numerous insufficiency fractures ipsilateral to the linear sebaceous nevus. Fibroblast growth factor-23 (FGF-23), the phosphaturic peptide, was elevated in the plasma. Treamtent with the somatostatin agonist, octreotide, and excision of the nevus were followed by normalization of FGF-23 and clinical improvement. The patient also had hyperimmunoglobulinemia E, which responded to octreotide and surgery. We speculate that in some patients with LNSS there may be more than one mediator of hypophosphatemia and that FGF-23 is the mediator of hyperphosphaturia in this and other hypophosphatemic syndromes. 相似文献
2.
DZ Loesch F Tassone J Lo HR Slater LV Hills MQ Bui PA Silburn GD Mellick 《Clinical genetics》2013,84(4):382-385
We recently reported a significant increase in the frequency of carriers of grey zone (GZ) alleles of FMR1 gene in Australian males with Parkinson's disease (PD) from Victoria and Tasmania. Here, we report data comparing an independent sample of 817 PD patients from Queensland to 1078 consecutive Australian male newborns from Victoria. We confirmed the earlier finding by observing a significant excess of GZ alleles in PD (4.8%) compared to controls (1.5%). Although both studies provided evidence in support of an association between GZ‐carrier status and increased risk for parkinsonism, the existing evidence in the literature from screening studies remains equivocal and we discuss the need for alternative approaches to resolve the issue. 相似文献
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D'Souza WD Kwok Y Deyoung C Zacharapoulos N Pepelea M Klahr P Yu CX 《Medical physics》2005,32(12):3641-3649
Respiration-induced tumor motion is known to cause artifacts on free-breathing spiral CT images used in treatment planning. This leads to inaccurate delineation of target volumes on planning CT images. Flow-volume spirometry has been used previously for breath-holds during CT scans and radiation treatments using the active breathing control (ABC) system. We have developed a prototype by extending the flow-volume spirometer device to obtain gated CT scans using a PQ 5000 single-slice CT scanner. To test our prototype, we designed motion phantoms to compare image quality obtained with and without gated CT scan acquisition. Spiral and axial (nongated and gated) CT scans were obtained of phantoms with motion periods of 3-5 s and amplitudes of 0.5-2 cm. Errors observed in the volume estimate of these structures were as much as 30% with moving phantoms during CT simulation. Application of motion-gated CT with active breathing control reduced these errors to within 5%. Motion-gated CT was then implemented in patients and the results are presented for two clinical cases: lung and abdomen. In each case, gated scans were acquired at end-inhalation, end-exhalation in addition to a conventional free-breathing (nongated) scan. The gated CT scans revealed reduced artifacts compared with the conventional free-breathing scan. Differences of up to 20% in the volume of the structures were observed between gated and free-breathing scans. A comparison of the overlap of structures between the gated and free-breathing scans revealed misalignment of the structures. These results demonstrate the ability of flow-volume spirometry to reduce errors in target volumes via gating during CT imaging. 相似文献
6.
Christopher J Johnson Michelle B Barry Mohammad A Vasef Barry R Deyoung 《Applied immunohistochemistry & molecular morphology》2008,16(1):54-58
Salivary duct carcinoma (SDC) shares significant morphologic and immunophenotypic overlap with ductal carcinoma of the breast, including HER-2/neu expression. Previous studies have detected HER-2/neu at the protein level in SDCs; however, no study, to date, has assayed whether this expression is related to gene amplification detected by chromogenic in situ hybridization (CISH). Formalin-fixed, paraffin-embedded tissue sections from 12 previously diagnosed SDCs were evaluated by immunohistochemistry (IHC) and CISH for HER-2/neu status. Result concordance was seen in all 12 cases. A total of 4 SDCs were positive by IHC; all 4 cases showed amplification with CISH. The remaining 8 cases were negative by IHC and showed no gene amplification with CISH. SDCs in this study show HER-2/neu overexpression on both the protein and gene levels in approximately 30% of cases. These findings suggest a role may exist for Herceptin (trastuzumab) based therapy in some SDC patients. 相似文献
7.
M Magnus J Herwehe D Gruber W Wilbright E Shepard A Abrams J Foxhood L Smith K Xiao K Deyoung M Kaiser 《International journal of medical informatics》2012,81(10):e30-e38
PurposeThe purpose of this study was to evaluate HIV-related outcomes associated with use of a novel public health information exchange that was designed to identify out of care HIV-infected individuals seen within a large, integrated delivery network (IDN).MethodsA novel, secure, bidirectional health care delivery-public health information exchange, the Louisiana Public Health Information Exchange (LaPHIE) was developed between a multi-geographical IDN and the Louisiana public health authority in response to the high proportion of out of care HIV-infected persons. The system provides real-time provider alerts when any HIV-infected person who has not had CD4 or HIV viral load (VL) monitoring in >1 year receives non-HIV care within the IDN, allowing immediate linkage to HIV specialty care. Persons identified over the first 30 months of the system's implementation were characterized using a case-cohort approach to compare out-of-care individuals with randomly sampled, time-matched in-care controls.ResultsBetween 2/1/09 and 7/31/11, 549 alerts identified 419 unduplicated HIV-infected individuals without a CD4 count or VL in >1 year. Patients were identified at 60 clinics and alerts shown to 223 clinicians in 7 participating facilities. A quarter (24%) of those identified had not had a CD4 count or VL conducted since their initial diagnosis. Of the remaining 76% who had been in care previously, over half (55%) had been out of care for ≥18 months, with a median time of 19.4 months [IQR 15.0–32.5] since their previous visit. Following LaPHIE identification, 42% had CD4 counts < 200 cells/mm3 and 62% had VL > 10,000 RNA copies/mL. Of the 344 patients with at least 6 months of follow up, 85% had at least one CD4 and/or VL test after being identified.ConclusionsThe results of this study demonstrate that an information exchange can effectively facilitate engagement, re-engagement, and retention of out-of care HIV-infected persons in HIV specialty care. Within two years, we were able to observe significant improvements in HIV-related utilization and disease progression indices. Future programs should consider adopting this innovative strategy to improve HIV care at both the individual and population levels. 相似文献
8.
Jihong Chen Jinhong Xing Jiande DZ Chen 《Journal of gastroenterology and hepatology》2009,24(6):1130-1135
Aims: This study was designed to assess whether the muscarinic receptor stimulation and nitric oxide synthase inhibition were equally effective on gastric fundic tone or gastric myoelectrical activity (GMA) in canines, and the correlation between gastric fundic tone and GMA.
Methods: Gastric fundic tone and GMA were recorded on seven dogs implanted with serosal electrodes and a gastric cannula.
Results: Bethanechol and L-nitro-N-arginine (L-NNA) significantly increased gastric fundic tone; gastric volume was decreased with bethanechol or L-NNA ( P < 0.05). Increased spike activities were observed after both bethanechol and L-NNA. The percentage of slow waves superimposed with spikes was increased with bethanechol ( P < 0.001) and L-NNA ( P < 0.05). There was a significant reduction in dominant frequency (DF) ( P < 0.05), dominant power (DP) ( P < 0.05) and percentage of normal slow waves (%N) ( P < 0.05) with bethanechol, while no significant change was observed with L-NNA. The variation of gastric tone was not correlated with parameters of GMA.
Conclusions: Muscarinic receptor stimulation and nitric oxide synthase inhibition have similar effects on gastric tone and gastric spike activities, but different effects on gastric slow waves. Gastric fundic tone does not correlate with gastric slow waves. 相似文献
Methods: Gastric fundic tone and GMA were recorded on seven dogs implanted with serosal electrodes and a gastric cannula.
Results: Bethanechol and L-nitro-N-arginine (L-NNA) significantly increased gastric fundic tone; gastric volume was decreased with bethanechol or L-NNA ( P < 0.05). Increased spike activities were observed after both bethanechol and L-NNA. The percentage of slow waves superimposed with spikes was increased with bethanechol ( P < 0.001) and L-NNA ( P < 0.05). There was a significant reduction in dominant frequency (DF) ( P < 0.05), dominant power (DP) ( P < 0.05) and percentage of normal slow waves (%N) ( P < 0.05) with bethanechol, while no significant change was observed with L-NNA. The variation of gastric tone was not correlated with parameters of GMA.
Conclusions: Muscarinic receptor stimulation and nitric oxide synthase inhibition have similar effects on gastric tone and gastric spike activities, but different effects on gastric slow waves. Gastric fundic tone does not correlate with gastric slow waves. 相似文献
9.
本文用高效液相色谱分离、液闪测定放射性的方法,测定了兔口服炔诺酮肟(NETO)和炔诺酮(NET)的血浓,并比较了二者的药代动力学参数。结果表明:二者吸收迅速,从血中的消除均呈快慢两个时相。NETO在兔体内一部分迅速转变为NET,另一部分则以原药形式存在,24 h内NETO与其代谢产物NET在血清中的浓度大致各占一半。兔口服NETO与NET后,血浓—时间曲线符合二室模型,NETO的达峰时间比NET短,二者有显著差异(P<0.05),其它动力学参数无明显差异(P>0.05)。 相似文献
10.
Li-Jie Li Xiang-Min Zheng Dao-Zhen Jiang Wei Zhang Hong-Liang Shen Cheng-Xiang Shan Sheng Liu Ming Qiu -F Minimally Invasive Surgical Center Changzheng Hospital Second Military Medical University Shanghai China Author contributions: Li LJ Zheng XM Jiang DZ Zhang W Shen HL Liu S Shan CX Qiu M contribute to literature search Qiu M Li LJ Zheng XM wrote the review. 《World journal of gastroenterology : WJG》2010,16(19):2341-2347
The development of laparoscopic surgery has generated the new field of study, laparoscopic anatomy. This article reviews the reported literature on laparoscopic anatomy and explores how it has evolved along with advances in abdominal surgery. In addition, the principal concerns in current laparoscopic anatomy research are discussed, including: (1) types of special adjacent anatomical structures; and (2) special surgical planes and anatomical landmarks. Understanding of systematic laparoscopic anatomy can pr... 相似文献