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We report an adult female with a rare giant choledochal cyst. The patient presented following a normal pregnancy with the classical triad of an abdominal mass associated with jaundice and right upper quadrant abdominal pain. The cyst was excised using an intramural technique and biliary reconstruction achieved with a Roux-en-Y hepaticojejunostomy. Our patient has remained well with no evidence of malignancy over a 12 year review period. The aetiology and current management of this condition are discussed. 相似文献
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Na+ dependence of in vitro pancreatic amylase release 总被引:1,自引:0,他引:1
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Brémond-Gignac D Crolla JA Copin H Guichet A Bonneau D Taine L Lacombe D Baumann C Benzacken B Verloes A 《European journal of human genetics : EJHG》2005,13(4):409-413
Aniridia, Wilms tumor, genitourinary abnormalities, growth and mental retardation are the cardinal features of the WAGR 11p13 deletion syndrome. The Potocki-Schaffer syndrome or proximal 11p deletion syndrome (previously DEFECT11 syndrome) is a contiguous gene syndrome associated with deletions in 11p11.2, principal features of which are multiple exostoses and enlarged parietal foramina. Mental handicap, facial dysmorphism and craniosynostosis may also be associated. We report a patient with combined WAGR and Potocki-Shaffer syndromes, and obesity. She presented with aniridia, cataract, nystagmus, corneal ulcers and bilateral congenital ptosis. A left nephroblastoma was detected at 15 months. Other features included moderate developmental delay, growth deficiency, facial dysmorphism, multiple exostoses and cranial lacunae. High-resolution and molecular cytogenetics confirmed a del(11)(p11.2p14.1) deletion with a proximal breakpoint between the cosmid DO8153 and the BAC RP11-104M24 to a distal breakpoint between cosmids CO8160 (D11S151) and F1238 (D11S1446). The deletion therefore includes EXT2, ALX4, WT1 and PAX6. This case appears to be the second patient reported with this combined deletion syndrome and confirms the association of obesity in the WAGR spectrum, a feature previously reported in four cases, and for which the acronym WAGRO has been suggested. Molecular and follow-up data on the original WAGRO case are briefly presented. 相似文献
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Determination of optimal cryoprotectants and procedures for their addition and removal from human spermatozoa 总被引:9,自引:7,他引:9
The objective was to test the hypothesis that the optimal cryoprotective
agent for cryopreservation of human spermatozoa would be a solute for which
cells have the highest plasma membrane permeability, resulting in the least
amount of volume excursion during its addition and removal. To test this
hypothesis, theoretical simulations were performed using membrane
permeability coefficients to predict optimal procedures for the addition
and removal of a cryoprotectant. Simulations were performed using data from
four different cryoprotectants: (i) glycerol, (ii) dimethyl sulphoxide,
(iii) propylene glycol and (iv) ethylene glycol. Thermodynamic formulations
were applied to determine approaches for the addition and removal of 1 M
and 2 M final concentrations of cryoprotectant, allowing the spermatozoa to
maintain a cell volume within their osmotic tolerance limits. Based on
these data, ethylene glycol was predicted to be optimal for minimizing
volume excursions among the solutes evaluated. These predictions were then
experimentally tested using glycerol as the control cryoprotectant and
ethylene glycol as the experimental cryoprotectant. The results indicate
that there was a higher (P < 0.05) recovery of motile spermatozoa after
cryopreservation when using 1 M ethylene glycol than with 1 M glycerol,
supporting the hypothesis that use of the cryoprotectant for which the cell
has the highest permeability will result in higher cell survival.
相似文献
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Brémond-Gignac D Gérard-Blanluet M Copin H Bitoun P Baumann C Crolla JA Benzacken B Verloes A 《American journal of medical genetics. Part A》2005,134(4):422-425
The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, Aniridia, Genito-urinary abnormalities, and growth and mental retardation which is invariably associated with an 11p13 deletion. We report two monozygotic twins and a third, unrelated patient with WAGR syndrome and additional clinical features not usually associated with WAGR. Both twins had developmental delay, growth deficiency, severe ocular involvement (nystagmus, aniridia, cataracts), atrial septal defect and two uncommon findings: agenesis of the corpus callosum and duplication of the halluces. One twin developed Wilms tumors aged 19 months while her sister remained tumor free by the age of 6.5 years. The singleton patient showed typical WAGR syndrome and preaxial hallucal polydactyly. Molecular cytogenetic studies refined the identification of the extent of the deleted segments, which were not identical in the two families. The two deletions included the PAX6 and WT1 genes as previously reported in typical WAGR patients. The unusual anomalies described in this report, may represent the expression of low penetrant traits associated with haploinsufficency of one or more of the genes present in the deletion (PAX6 is expressed in CNS) or may indicate epistatic influences of modifier genes on the expression of gene(s) present in the WAGR region. 相似文献