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1.
Serial radionuclide studies using both Tc-99m DTPA (perfusion) and I-131 hippuran (tubular function) were correlated with histologic findings in 25 patients with renal transplants. These cases included 15 cases of cyclosporin-A nephrotoxicity (CsA-NT) and ten cases of acute cellular rejection that were retrospectively selected on the basis of biopsy findings and favorable clinical response to therapy specific for each of these conditions. The serial radionuclide studies enabled the correct diagnosis in 12 of 15 cases of CsA-NT and eight of ten cases of acute rejection. Posttherapy radionuclide studies, furthermore, demonstrated improvement consistent with clinical response. In all cases, the radionuclide results were available at least 24 hours before biopsy findings. These results indicate that serial radionuclide studies evaluating interval changes in both perfusion and tubular function are of significant value in the diagnosis and follow-up of CsA-NT and acute cellular rejection in transplant recipients. This initial experience suggests a sensitivity of 80%. 相似文献
2.
Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity 总被引:13,自引:5,他引:13
Eichler EE; Budarf ML; Rocchi M; Deaven LL; Doggett NA; Baldini A; Nelson DL; Mohrenweiser HW 《Human molecular genetics》1997,6(7):991-1002
A 9.7 kb segment encompassing exons 7-10 of the adrenoleukodystrophy (ALD)
locus of the X chromosome has duplicated to specific locations near the
pericentromeric regions of human chromosomes 2p11,10p11, 16p11 and 22q11.
Comparative sequence analysis reveals 92-96% nucleotide identity,
indicating that the autosomal ALD paralogs arose relatively recently during
the course of higher primate evolution (5-10 million years ago). Analysis
of sequences flanking the duplication region identifies the presence of an
unusual GCTTTTTGC repeat which may be a sequence-specific integration site
for the process of pericentromeric- directed transposition. The breakpoint
sequence and phylogenetic analysis predict a two-step transposition model,
in which a duplication from Xq28 to pericentromeric 2p11 occurred once,
followed by a rapid distribution of a larger duplicon cassette among the
pericentromeric regions. In addition to facilitating more effective
mutation detection among ALD patients, these findings provide further
insight into the molecular basis underlying a pericentromeric-directed
mechanism for non- homologous interchromosomal exchange.
相似文献
3.
Isolated fetal hydrothorax with hydrops: a systematic review of prenatal treatment options 总被引:11,自引:0,他引:11
OBJECTIVE: To evaluate the effect of prenatal therapeutic interventions on perinatal outcome in pregnancies complicated by isolated fetal hydrothorax with hydrops. METHODS: A systematic review of the literature from January 1982 to January 2006 of perinatal outcome in pregnancies with isolated fetal hydrothorax with hydrops with any form of prenatal treatment was conducted. RESULTS: Forty-four articles met our selection criteria, reporting a total of 172 fetuses treated prenatally. Reported treatment options were single (n = 13) or serial thoracocentesis (n = 18), thoraco-amniotic shunt placement (n = 100) or a combination of thoracocentesis and shunting (n = 36). Four case-reports described pleurodesis with OK-432, (n = 3) and intrapleural injection of autologous blood (n = 2). Overall survival rate was 63%, ranging from 54% for single thoracocentesis to 80% in the 5 cases treated with pleurodesis, without statistically significant differences between the treatment modalities. Shunt-placement with or without prior thoracocentesis was most often described, with survival rates of 67 and 61% respectively. DISCUSSION: The available literature consists exclusively of case reports and case series. This systematic review suggests that with prenatal intervention, perinatal survival rates around 63% are possible. There is a need for prospective, adequately controlled studies with long-term follow-up to determine the best treatment and more reliable outcome data in pregnancies complicated by fetal hydrothorax with hydrops. 相似文献
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Hong Liang TEY Hock Leong EE Andy SL TAN Thiam Seng THENG Su Ni WONG Shih Wee KHOO 《The Journal of dermatology》2010,37(5):426-430
The aim of this study was to determine if the following characteristics were associated with the presence of psoriatic arthritis in a sample of psoriasis patients: race, family history of psoriasis and psoriatic arthritis, age of onset of psoriasis, smoking, alcohol consumption and the maximum body surface area (BSA) affected by psoriasis. This was a case–control study involving 400 psoriasis patients who attended the Psoriasis and Photo‐medicine clinic in the National Skin Center of Singapore over a 1‐year period. Cases were psoriasis patients with psoriatic arthritis while controls were psoriasis patients without psoriatic arthritis. The diagnosis of psoriatic arthritis was made by rheumatologists and participants completed a self‐administered standardized questionnaire. The maximum BSA involved was determined from the case notes. Psoriatic arthritis was not significantly associated with sex, race, age of onset of psoriasis, a family history of psoriasis, smoking and alcohol consumption but was significantly associated with a family history of psoriatic arthritis (P < 0.001) and the maximum body surface involved (P = 0.05). Using multivariate analysis to control for variables, the presence of psoriatic arthritis was significantly associated with a family history of psoriatic arthritis (odds ratio [OR] = 20.5; 95% confidence interval [CI] = 2.49–169.10) and the maximum BSA involved (OR = 2.52; 95% CI = 1.33–4.75). Indian psoriatic patients were more likely to have psoriatic arthritis compared to the other races. A family history of psoriatic arthritis and a greater maximum body surface involved may be associated with having psoriatic arthritis in this study population of psoriasis patients. 相似文献
6.
Peracchi M; Toschi V; Bamonti-Catena F; Lombardi L; Bareggi B; Cortelezzi A; Colombi M; Maiolo AT; Polli EE 《Blood》1987,69(6):1613-1616
To verify the clinical usefulness of extracellular cyclic nucleotide determination as a tumor marker, plasma cyclic AMP (cAMP) and cyclic GMP (cGMP) levels were measured in 70 normal subjects and 173 acute leukemia patients studied in different stages of their disease. Mean plasma cAMP levels were similar in leukemic and normal subjects, although in 48 patients in the active stage of the disease, first diagnosis, or relapse, the cAMP values were below the normal range, and most of these patients failed to respond to chemotherapy. Plasma cGMP levels were markedly elevated in untreated patients, normalized in all patients who attained complete remission, and increased promptly to pretreatment values in patients who relapsed, suggesting that their determination may be useful to monitor the patients' response to treatment. 相似文献
7.
S. A. L. Bartels P. J. van Koperen A. F. W. van der Steeg E. E. Deurloo W. A. Bemelman H. A. Heij 《Colorectal disease》2011,13(8):930-934
Aim The risk of malignant changes in presacral tumours in children was investigated in relation to age at diagnosis, type of presentation and origin of the tumour. Method A retrospective review was carried out in 17 patients surgically treated for congenital presacral masses over a 22‐year period. Results Constipation was the main symptom in 14 (82%) of 17 patients. The lesions were evident on digital examination in 14 patients. Mature teratoma (n = 9, 64%) was the most common lesion, including three malignancies. Currarino syndrome was diagnosed in 10 (71%) patients. Two unclassified variant HLXB9 gene mutations were found in five (29%) patients who underwent genetic testing. Conclusion Congenital presacral tumours in children were mostly mature teratomas, either as sacrococcygeal teratomas or as part of the Currarino syndrome. The risk of malignancy in patients older than 1 year necessitates early surgical resection. 相似文献
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10.
Ultrasonography-guided fine-needle aspiration cytology before sentinel node biopsy in patients with penile carcinoma 总被引:1,自引:0,他引:1
OBJECTIVE: To assess the accuracy of ultrasonography (US)-guided fine-needle aspiration cytology (FNAC) for detecting occult lymph node metastases in patients with squamous cell carcinoma of the penis. PATIENTS AND METHODS: Forty-three patients with 83 clinically node-negative inguinal regions were assessed with US and FNAC. The results were compared with histology from subsequent dynamic sentinel-node biopsy (DSNB) or inguinal lymph node dissection. RESULTS: Thirty-four groins in 27 patients were considered to be suspicious by US and the lymph nodes were aspirated. Nine nodes contained tumour cells and this was confirmed by subsequent lymph node dissection. The sensitivity and specificity of US-guided FNAC were 39% (nine of 23) and 100% (60 of 60), respectively. The number of groins requiring DSNB was reduced by 11% (nine of 83). CONCLUSION: US-guided FNAC can be used as the initial investigation in clinically node-negative groins. If tumour is confirmed then therapeutic inguinal lymph node dissection can be earlier and fewer DSNBs are required. 相似文献