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Background: Half of the patients who undergo surgery for cancer of the esophagus or gastric cardia present with recurrent disease within 2 years after the operation. We investigated the value of endosonography for the early detection of recurrent disease. Methods: Forty-three patients entered a follow-up protocol in which endosonography was performed every 6 months within the first 2 years after resection. Results: During 16 of a total of 66 examinations, suspicious abnormalities were found. In three patients free fluid was seen, but recurrence could not be confirmed during follow-up. In eight patients suspicious lymph nodes were seen; six died within 6 months, one was alive with a proven recurrence at 6 months, and one was alive without recurrence at 22 months. In five patients focal wall-thickening or a mass was seen; three died within 6 months, and two were alive with a proven recurrence at 2 and 5 months. After exclusion of free fluid, the positive predictive value of abnormalities on endoscopic ultrasonography (EUS) was 92%. Conclusions: Endosonography, performed at 6-month intervals after resection of cancer of the esophagus or gastric cardia, is accurate in the early detection of locoregional recurrent disease. Two thirds of the patients were still without symptoms when the recurrence was found. (Gastrointest Endosc 1997;46:487-91.)  相似文献   
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Familial amyloidotic polyneuropathy (FAP) with a mutation in position 30 of transthyretin (TTR) (previously called prealbumin) is an autosomal dominant inherited disorder characterized by varying degrees of peripheral neuropathy, nephropathy, gastrointestinal problems, and vitreous amyloid. We have earlier diagnosed homozygosity for the TTR-Met30-gene using Southern analysis in four Swedish individuals. We have found it possible to detect homozygosity for the Met-30 mutation by amplifying discrete regions of the TTR-gene using polymerase chain reaction (PCR), and the amplification products restricted with NsiI analysed by gel electrophoresis. Clinical data on seven homozygous individuals, including three new cases, are presented.  相似文献   
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Double minutes (dmin), the cytogenetic hallmark of genomic amplification, are found in approximately 1% of karyotypically abnormal acute myeloid leukemias (AML) and myelodysplastic syndromes (MDS). The MYC gene at 8q24 has been reported to be amplified in the majority of the cases, and generally it has been assumed that MYC is the target gene. However, only a few studies have focused on the extent of the amplicon or on the expression patterns of the amplified genes. We have studied six cases (five AML and one MDS) with MYC-containing dmin. Detailed fluorescence in situ hybridization analyses identified a common 4.3 Mb amplicon, with clustered proximal and distal breakpoints, harboring eight known genes (C8FW, NSE2, POU5FLC20, MYC, PVT1, AK093424, MGC27434 and MLZE). The corresponding region was deleted in one of the chromosome 8 homologues in five of the six cases, suggesting that the dmin originated through extra replication (or loop-formation)--excision--amplification. Northern blot analysis revealed that MYC was not overexpressed. Instead, the C8FW gene, encoding a phosphoprotein regulated by mitogenic pathways, displayed increased expression. These results exclude MYC as the target gene and indicate that overexpression of C8FW may be the functionally important consequence of 8q24 amplicons in AML and MDS.  相似文献   
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Solid organ transplant (SOT) recipients run a high risk for adverse outcomes from COVID-19, with reported mortality around 19%. We retrospectively reviewed all known Swedish SOT recipients with RT-PCR confirmed COVID-19 between March 1 and November 20, 2020 and analyzed patient characteristics, management, and outcome. We identified 230 patients with a median age of 54.0 years (13.2), who were predominantly male (64%). Most patients were hospitalized (64%), but 36% remained outpatients. Age >50 and male sex were among predictors of transition from outpatient to inpatient status. National early warning Score 2 (NEWS2) at presentation was higher in non-survivors. Thirty-day all-cause mortality was 9.6% (15.0% for inpatients), increased with age and BMI, and was higher in men. Renal function decreased during COVID-19 but recovered in most patients. SARS-CoV-2 antibodies were identified in 78% of patients at 1–2 months post-infection. Nucleocapsid-specific antibodies decreased to 38% after 6–7 months, while spike-specific antibody responses were more durable. Seroprevalence in 559 asymptomatic patients was 1.4%. Many patients can be managed on an outpatient basis aided by risk stratification with age, sex, and NEWS2 score. Factors associated with adverse outcomes include older age, male sex, greater BMI, and a higher NEWS2 score.  相似文献   
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Purpose Our purpose was (a) to investigate relationships of baseline endocrine serum levels with selected assisted reproduction (AR) parameters and (b) to evaluate the clinical applicability of an immunofluorometric assay (IFMA) as an alternative to a radioimmunoassay (RIA).Methods Basal endocrine values (analyzed by RIA—rFSH, rLH, and rE2; analyzed by IFMA—fFSH, fLH, and fGH) were determined for female patients (n = 142) preceding ovarian stimulation for AR.Results Specific AR parameters correlated significantly with RIA- and IFMA-determined FSH levels, although IFMA correlations consistently exceeds that of RIA. Cutoff values of fFSH 11.68 IU/L or rFSH 15.0 IU/L indicated a poor response. The high-basal fFSH group was older (34 vs 31 years; P = 0.0334) and yielded fewer oocytes (2.9 vs 4.6 oocytes; P = 0.0018) than the low-basal fFSH group (<11.68 IU/L). Lower cumulative embryo scores and conception rates were also associated with the high-fFSH group, compared to the low-fFSH group.Conclusions This study confirms the negative impact of elevated basal FSH levels on AR. Basal LH, GH, and E2 levels are, in comparison to baseline FSH levels, unsuitable indices for estimating ovarian responsiveness. IFMA can be regarded as an alternative to RIA in both clinical and research laboratories.  相似文献   
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Purpose To investigate possible relationships of interleukin-1 (IL-1, interleukin-6 (IL-6), and growth hormone (GH) with biochemical variables in human follicular fluid (FF) and selected in vitro fertilization (IVF) parameters.Methods A total of 67 FF samples (n=67 patients undergoing oocyte retrieval for IVF) was evaluated. IL-1, IL-6, GH, hLH, FSH, PRL, hCG, testosterone, total protein, fibrinogen, sialic acid, 1-antitrypsin, plasminogen levels, and spectrophotometric absorbance at 458 nm were analyzed for selected FF. IL-6 and GH levels of serum and FF samples were also compared (n=23).Results Immunoreactive levels of IL-1, IL-6, and GH were detected in all FF samples. A positive correlation existed for IL-6 (r=0.5069, P=0.0161 when serum-to-FF levels were compared (concentration ratio, 11.857). Smaller-volume follicles (<4 ml) were associated with high IL-1 levels (P=0.0229, and an additional tendency of IL-1 to decrease with increasing embryo cleavage and scoring was observed. With the exception of a weak positive correlation between follicular IL-1 and testosterone levels (r=0.3128, P=0.025, no other relationship with biochemical variables or IVF parameters (etiology, e.g., endometriosis) could be implicated.Conclusions Substantially higher IL-6 levels occurred in FF compared to serum, thus supporting intrafollicular production. Interleukin- 1,IL-6, and GH levels in FF are, however, unsuitable markers for in vitro fertilization outcome.  相似文献   
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