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1.
2.
In the case of characteristic chromosomal deletion of chromosome 15(q11----q13) the diagnosis of the Prader-Willi syndrome can be already confirmed in early infancy as shown in our case report. In this connection cytogenetic high-resolution techniques are indispensable. Cytogenetic and clinical problems are discussed. 相似文献
3.
Brandon JC; Teplick SK; Haskin PH; Sammon JK; Muhr WF; Hofmann AF; Gambescia RA; Zitomer N 《Radiology》1988,166(3):665-667
The authors describe their experience with methyl tertiary butyl ether (MTBE) in a larger series of patients than previously reported in order to acquaint physicians with both its effectiveness for dissolution of common bile duct calculi and the limitations of its use. Ten patients with 13 biliary calculi underwent percutaneous stone dissolution treatment with the experimental cholesterol solvent, MTBE. Three stones completely dissolved within 30 minutes, seven were reduced in size, and three were visibly unaffected. All stones not completely dissolved were easily extracted by means of a stone basket except for one in a patient taken to surgery. Although MTBE perfusion is an effective technique for management of biliary calculi, practitioners should be aware that its use is quite time consuming and its odor difficult to control. 相似文献
4.
Darai E; Leblanc M; Walker-Combrouze F; Bringuier AF; Madelenat P; Scoazec JY 《Human reproduction (Oxford, England)》1998,13(5):1346-1352
We evaluated the immunohistochemical expression of cadherins and CD44
variants in 20 endometriomas, 20 cystadenomas, 20 borderline ovarian
tumours as well as 20 ovarian carcinomas, and the serological and cystic
fluid concentrations of soluble E-cadherin and soluble CD44 standard
(sCD44sdt) in 20 endometriomas, 20 cystadenomas, six borderline and 11
carcinomas of the ovary. In endometriomas, immunostaining of E- and
N-cadherin was negative (20 and 30% respectively). CD44 H, v3 and v6
immunostaining were detected in 63, 10 and 40% respectively. A difference
in immunostaining for E-cadherin was found between endometriomas and
cystadenomas (P < 0.001) and for N- cadherin between endometriomas and
carcinomas (P < 0.001). A difference in CD44H immunostaining was
observed between endometriomas and cystadenomas (P < 0.035) but not with
borderline ovarian tumours and carcinomas. No difference in serum
concentrations of soluble E- cadherins and CD44 standard was found between
the four groups of tumours. Cystic fluid concentrations of E-cadherin were
lower in endometriomas than in borderline tumours and ovarian carcinomas (P
< 0.001). High concentrations of soluble CD44 standard cystic fluid were
found in endometriomas than in other ovarian cysts. Endometriomas and
borderline tumours share alterations of cadherins and CD44 isoforms which
may help in the understanding of the aggressive and invasive potentials of
endometriotic cells.
相似文献
5.
Genital asymmetry in men 总被引:1,自引:0,他引:1
This study examined genital asymmetry in a large sample of men. The
probands were 6544 non-delinquent men who were interviewed by the Kinsey
Institute for Research in Sex, Gender and Reproduction from 1938 to 1963.
The measures were four indicators of penile and scrotal asymmetry, along
with self-reported handedness, from Kinsey's interview protocol. Most men
reported some degree of lateral asymmetry in their flaccid penis and in
their testicles; less asymmetry was reported for their erect penis. The
asymmetry typically occurred in the left direction, and this pattern
occurred in both right- and nonright- handers. However, this 'leftward'
pattern was significantly less pronounced in nonright-handers. The results
are discussed in relation to previous findings of genital asymmetry in men,
the possible relationship of genital asymmetry to functional cerebral
asymmetry, and recent data suggesting genital asymmetry may predict
patterns of cognitive performance and genital/sexual organ cancers.
相似文献
6.
Kalinski T Krueger S Pelz AF Wieacker P Hartig R Röpke M Schneider-Stock R Dombrowski F Roessner A 《Virchows Archiv : an international journal of pathology》2005,446(3):287-299
The permanent human cell line C3842 was established from a secondary chondrosarcoma in a typical case of Olliers disease. In the present study, we analyzed the morphological, cytogenetic and molecular biological characteristics of the cultured cells in comparison with the original tumor and investigated the invasion properties of the tumor model using functional imaging of proteolysis, matrigel assay and chick chorioallantoic membrane assay. C3842 cells exhibit the typical features of malignant cartilage tumor cells in vitro, including the expression of collagen types II, IX, XI and aggrecan. The proteolytic ability of C3842 cells is attributed to the expression of several proteases, such as cathepsin B, urokinase plasminogen activator and matrix-metalloproteinase-2, which enable the cells to degrade collagen type I and to permeate matrigel matrix. In accordance with the biological features in vivo, C3842 cells are not able to invade through the epithelium of the chick chorioallantoic membrane. In conclusion, the cell line C3842 provides the first model of a secondary chondrosarcoma in Olliers disease in vitro, which is characterized by distinct features of such malignant cartilage tumors. 相似文献
7.
PURPOSETo describe symptomatic pulmonary emboli from brain arteriovenous malformation embolization with liquid acrylates and to analyze the reasons for these complications and describe preventive techniques.METHODSThe clinical records of 182 patients embolized with acrylate glue since 1978 for treatment of brain AVMs were searched for evidence of symptomatic pulmonary complications. Originally iso-butyl-2-cyanoacrylate and more recently n-butyl-2-cyanoacrylate were used in all patients. Arteriovenous malformation morphology, amounts and techniques of glue injection, and clinical and radiologic investigations in the symptomatic patients were recorded.RESULTSThree patients had pulmonary symptoms within 48 hours of glue injection. One patient with a left frontal arteriovenous malformation had embolization with an isobutyl-2-cyanoacrylate/pantopaque/acetic acid mixture; severe pleuritic chest pain developed 2 days later. One patient with a left temporal and one with a left cerebellar arteriovenous malformation had embolization with n-butyl-2-cyanoacrylate/lipiodol mixtures; a cough, pleuritic chest pain, and bloody sputum developed in both within 24 hours. Two patients experienced a significant drop in PO2. No flow-arrest techniques were used for any of the injections in these three patients. All patients demonstrated significant changes on chest x-ray and CT chest examinations. All were treated conservatively and recovered spontaneously.CONCLUSIONSSymptomatic pulmonary complications can occur after acrylate glue injection, particularly when delivery systems without flow arrest are used in high-flow vascular brain lesions. Techniques using acetic acid to delay polymerization time and "sandwich" techniques in which glue is pushed with dextrose are also more susceptible to this complication. 相似文献
8.
Immune deficiencies in chronic intestinal pseudo-obstruction 总被引:1,自引:0,他引:1
ML Forchielli MC Young AF Flores D. Richardson CW Lo 《Acta paediatrica (Oslo, Norway : 1992)》1997,86(10):1077-1081
Aim: Chronic intestinal pseudo-obstruction has been associated with urinary disorders, myopathy, and ophthalmoplegia in adults and cholelithiasis in children. We observed a high percentage of total-parenteral-nutrition-dependent patients with pseudo-obstruction and recurrent infections requiring gammaglobulin infusions. Methods: AH records for 23 children with chronic intestinal pseudo-obstruction (10 females and 13 males, mean age 9.8 y ± 4.9 y, range 4–24 y) referred for a nutritional evaluation from 1992 to 1995 were reviewed. Chronic intestinal pseudo-obstruction was diagnosed by clinical, radiographic findings and antroduodenal manometry. Intestinal full-thickness biopsies were performed in seven children. Results: Hypogammaglobulinemia was diagnosed in 18 patients (78%): 16 patients had various immunoglobulin deficiencies and 2 had selective antibody deficiency. Intravenous gammaglobulin was administered in 14 patients. Other medical conditions affecting the children are summarized as follows: autonomic dysfunction in 10 patients (43%), recurrent hypoglycemia in 9 (39%), asthma in 9 (39%), cholecystitis in 7 (30%), low serum carnitine level in 6 (26%), urinary dysfunction in 6 (26%), pancreatitis in 5 (22%), behavioral problems in 5 (22%), myopathy in 2 (9%), idiopathic thrombocytopenia in 2 (8%), velopharyngeal insufficiency in 1 (4%), oculocutaneous albinism in 1 (4%), Pierre-Robin syndrome in 1 (4%), and protein C deficiency in 1 (4%). Munchausen syndrome was suspected in two patients. Conclusions: Chronic intestinal pseudo-obstruction appears to be associated with immune deficiencies. It is unclear if the immune deficiencies, intestinal pseudo-obstruction, and the other medical conditions have a common underlying etiology. Repeated infections may be due to impaired immune function in children with chronic intestinal pseudo-obstruction. We recommend screening for immune deficiencies in children with chronic intestinal pseudo-obstruction. 相似文献
9.
Lownie SP Pelz DM Fox AJ 《The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques》2000,27(2):162-165
BACKGROUND: Endovascular therapy is becoming an increasingly popular treatment for cerebral aneurysms. Total angiographic occlusion of small-necked aneurysms (<4 mm) can be obtained in a high percentage of cases. The endovascular treatment of wide-necked or fusiform aneurysms remains a challenge with complete angiographic occlusion reported in <15% of cases. CASE REPORT: We describe the combined use of a flexible coronary stent and platinum coils to treat a wide-necked aneurysm of the distal left vertebral artery, in a patient with Grade IV subarachnoid hemorrhage. RESULTS: The procedure was technically successful as the parent artery was protected by the stent while coils were deposited in the aneurysm lumen. Although angiographic aneurysm occlusion was incomplete, the dome was packed with coils. No further hemorrhage has occurred. CONCLUSION: Combined endovascular stent and coil therapy is a promising technique for the treatment of wide-necked cerebral aneurysms. 相似文献
10.
Complications from improperly placed biliary stents are not uncommon. Free loose wires from the ends of an uncovered stent can irritate and damage adjacent mucosal surfaces. Effective management can be achieved via percutaneous placement of a second stent to alter the orientation of the original stent. 相似文献