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1.
2.
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations 总被引:9,自引:1,他引:9
Meyer J; Sudbeck P; Held M; Wagner T; Schmitz ML; Bricarelli FD; Eggermont E; Friedrich U; Haas OA; Kobelt A; Leroy JG; Van Maldergem L; Michel E; Mitulla B; Pfeiffer RA; Schinzel A; Schmidt H; Scherer G 《Human molecular genetics》1997,6(1):91-98
It has previously been shown that, in the heterozygous state, mutations in
the SOX9 gene cause campomelic dysplasia (CD) and the often associated
autosomal XY sex reversal. In 12 CD patients, 10 novel mutations and one
recurrent mutation were characterized in one SOX9 allele each, and in one
case, no mutation was found. Four missense mutations are all located within
the high mobility group (HMG) domain. They either reduce or abolish the
DNA-binding ability of the mutant SOX9 proteins. Among the five nonsense
and three frameshift mutations identified, two leave the C-terminal
transactivation (TA) domain encompassing residues 402-509 of SOX9 partly or
almost completely intact. When tested in cell transfection experiments, the
recurrent nonsense mutation Y440X, found in two patients who survived for
four and more than 9 years, respectively, exhibits some residual
transactivation ability. In contrast, a frameshift mutation extending the
protein by 70 residues at codon 507, found in a patient who died shortly
after birth, showed no transactivation. This is apparently due to
instability of the mutant SOX9 protein as demonstrated by Western blotting.
Amino acid substitutions and nonsense mutations are found in patients with
and without XY sex reversal, indicating that sex reversal in CD is subject
to variable penetrance. Finally, none of 18 female patients with XY gonadal
dysgenesis (Swyer syndrome) showed an altered SOX9 banding pattern in SSCP
assays, providing evidence that SOX9 mutations do not usually result in XY
sex reversal without skeletal malformations.
相似文献
3.
Effect of genetic modification of acute inflammatory responsiveness on tumorigenesis in the mouse 总被引:1,自引:3,他引:1
4.
5.
W. Schröder OA Dr. P. Mallmann H. van der Ven K. Diedrich D. Krebs 《Archives of gynecology and obstetrics》1990,248(2):67-74
Summary Using an indirect lymphokin-assay, the leucocyte-migration-inhibition-test (LMI-test), the cellular sensitization of fertile
and infertile patients before and after homologous and heterologous intrauterine insemination (IUI) was investigated. In this
assay several preparations of spermatozoa (“washed”-, “swim-up”- and “pellet”-spermatozoa) in different concentrations (1,
5 and 10×106 sperms/ml culture medium) and seminal plasma were tested as antigen. In all investigated groups a cellular immune response
against spermatic antigen was demonstrable and seemed to be dose dependent. In contrast to fertile women who reacted with
an enhancement of the macrophage migration for low concentrations the same concentration of antigen induced an inhibition
of macrophage migration in fertile patients. For high concentrations of spermatic antigens there was a difference in the intensity
of cell-mediated immune response between fertile and infertile women. Since infertile patients demonstrated an increased level
of cell-mediated immune response it is possible that infertility may be caused by this altered immunological reaction. This
response changes after multiple IUI-treatment and that change might be caused by the high concentration of spermatic antigens
as there was a difference in the intensity of cell-mediated immune response between fertile and infertile women. Since infertile
patients demonstrated an increased level of cell-mediated immune response it is possible that infertility may be caused by
this altered immunological reaction. This response changes after multiple IUI-treatment and that change might be caused by
the high concentration of spermatozoa. The immunological response of infertile patients seems to be similar in those receiving
husband and donor IUI. 相似文献
6.
OA Dr. Klaus Fellermann 《coloproctology》2004,26(4):249-257
7.
OA Dr. L. Faupel K. Kunze K. Rehm 《European journal of trauma and emergency surgery》1984,10(5):250-253
A relatively or absolutely too long ulna leads always to pain in the wrist, so that a compensation in length of both forearmbones is achieved by shortening osteotomy. The gradual ulna shortening osteotomy, the stylectomy and the resection of the caput ulnae with or without radius transposition osteotomy are available as shortening operation. In 17 patients of the Gießener Unfallchirurgischen Klinik we performed in 14 cases a shortening osteotomy of the ulna and in 3 cases a resection of the caput ulnae. The shortening osteotomy lead in all cases to a reduction of complaints and to an improvement of the mobility of the wrist. Due to frequent arthropathy the resection of the caput ulnae should be taken more often into consideration in older people. 相似文献
8.
Dr. Ch. Bolterauer Prim. Doz. Dr. H. Haschek OA Dr. K. Kofler OA Dr. A. Schimatzek Prof. Dr. B. Thurnber Prof. Dr. W. Zischka-Konorsa 《European Surgery》1971,3(2):44-51
Zusammenfassung Nach Aufgliederung der prim?ren epithelialen Nierenparenchymtumoren aus pathologisch-anatomischer Sicht in 1. hypernephroide
Karzinome, 2. papill?re Adenokarzinome, 3. übergangsformen von 1 und 2, werden Nierenveneneinbruch und Einbruch in das Nierenholsystem
im Hinblick auf überlebenszeit bzw. H?maturie untersucht. Altersverteilung, Inivialsymptome und Laboratoriumsbefunde werden
in Tabellen aufgeführt. In der R?ntgendiagnostik wird die überragende Bedeutung der Aortographie hervorgehoben und ihre Grenzen
besprochen.
Schlie?lich erfolgt die Darstellung der überlebensrate nach verschiedenen Einteilungsprinzipien: Tumor auf die Niere beschr?nkt,
perirenale Infiltration, Veneneinbruch, makroskopisch radikal operiert und die Ergebnisse aller operierten Patienten.
Mit Unterstützung aus dem Felix-Mandl-Fonds zur F?rderung wissenschaftlicher Arbeiten an den St?dtischen Krankenanstalten der Gemeinde Wien und aus der Ludwig-Boltzmann-Gesellschaft zur F?rderung der wissenschaftlichen Forschung in ?sterreich. 相似文献
Summary Classification of the primary epithelial tumors of the kidney parenchyma from a patho-anatomical standpoint in 1. hypernephroid carcinoma, 2. papillary adenocarcinoma, 3. transition of 1 to 2, invasion to renal vene and to calyx-pelvic system in relation to survival rate and haematuria is examinated. Age distribution, initial symptoms and laboratory findings are summarized in tables. The importance of aortography in the roentgenologic diagnostic of renal is emphasized. Discussion of survival rate according to: intraparenchymal tumor, perirenal and vene invasion, nephrectomy macroscopic radical and results of all operated patients.
Mit Unterstützung aus dem Felix-Mandl-Fonds zur F?rderung wissenschaftlicher Arbeiten an den St?dtischen Krankenanstalten der Gemeinde Wien und aus der Ludwig-Boltzmann-Gesellschaft zur F?rderung der wissenschaftlichen Forschung in ?sterreich. 相似文献
9.
Zusammenfassung Mitteilung über 4 operierte F?lle von Pankreas annulare aus dem eigenen Krankengut. In 2 neonatalen F?llen mit dem Bild der
Duodenalatresie konnte durch Duodenoduodenostomie eine Heilung erzielt werden. Auf die Wichtigkeit der rechtzeitigen Diagnosestellung
wird hingewiesen.
In 2 F?llen bei Erwachsenen waren Schmerzen, Erbrechen und Gewichtsverlust die wichtigsten Symptome. Die Diagnose wurde trotz
mehrfacher vorangegangener Operationen und zahlreicher Voruntersuchungen erst nach Jahren gestellt. Zur Behandlung kam einmal
die Duodenoduodenostomie, einmal die Duodenopankreatektomie erfolgreich zur Anwendung.
Summary This is a report on 4 operated cases of annular pancreas. In 2 neonatal cases this condition presented symptoms of a complete duodenal obstruction. Duodenoduodenostomy and temporary gastric decompression by gastrostomy was performed in both cases and has proved to be satisfactory. The importance of an early diagnosis has been emphasized. In 2 adult cases the most pronounced symptoms were pain, vomiting and loss of weight. In spite of several previous operations of the abdomen and frequent examinations the correct diagnosis was not made for years. One case was treated successfully by duodenoduodenostomy, in the second case because of pancreatic fibrosis a duodenopancreatectomy was necessary.相似文献
10.
Zusammenfassung Es wird über einen Fall berichtet, bei dem es durch Inkrustation eines Catgutfadens zur Gallensteinbildung in den tiefen Gallenwegen
gekommen war.
Summary We report on a case in which incrustation of a plain catgut thread caused the formation of a gallstone in the common bile duct.相似文献