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21.
Day DJ; Speiser PW; Schulze E; Bettendorf M; Fitness J; Barany F; White PC 《Human molecular genetics》1996,5(12):2039-2048
Steroid 21-hydroxylase deficiency is among the most common inborn errors of
metabolism in man. Characterization of mutations in the 21- hydroxylase
gene (CYP21) has permitted genetic diagnosis, facilitated by the polymerase
chain reaction (PCR). The most common mutation is conversion of an A or C
at nt656 to a G in the second intron causing aberrant splicing of mRNA.
Homozygosity for nt656G is associated with profoundly deficient adrenal
cortisol and aldosterone synthesis, secondary hypersecretion of adrenal
androgens, and a severe form of congenital adrenal hyperplasia (CAH)
characterized by ambiguous genitalia and/or sodium wasting in newborns.
During the course of genetic analysis of CYP21 mutations in CAH families,
we and others have noticed a number of relatives genotyped as nt656G
homozygotes, yet showing no clinical signs of disease. A number of lines of
evidence have led us to propose that the putative asymptomatic nt656G/G
individuals are incorrectly typed due to dropout of one haplotype during
PCR amplification of CYP21. For prenatal diagnosis, we recommend that
microsatellite typing be used as a supplement to CYP21 genotyping in order
to resolve ambiguities at nt656.
相似文献
22.
23.
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25.
Horne G; Jamaludin A; Critchlow JD; Falconer DA; Newman MC; Oghoetuoma J; Pease EH; Lieberman BA 《Human reproduction (Oxford, England)》1998,13(11):3045-3048
Insemination with donor spermatozoa is an integral part of infertility
treatment. For the last 3 years in our unit, intrauterine insemination with
donor spermatozoa (IUID) has been used in preference to vaginal
insemination. In this retrospective study, patients were offered an initial
course of five single intrauterine inseminations with cryopreserved donor
spermatozoa and treatment was then reviewed. A total of 389 patients
received 1465 inseminations. In all, 1119 cycles were monitored using
luteinizing hormone serum analyses and 346 cycles using the urine home test
kits. The clinical pregnancy rate per insemination for the cycles monitored
by the serum assay was 18.0% (202/1119) compared with the urine cycles
(13.7%, 46/346) (P <05). The pregnancy loss rate was not significantly
different (14.4%, 29/202 and 21.7%, 10/46) (serum and urine cycles
respectively). The viable clinical pregnancy rate was significantly higher
(P <03) for the serum cycles than for the cycles using the urinary
monitoring (15.5%, 173/1119 and 10.4%, 36/346 respectively). The cycles
monitored by serum assay had a significantly higher cumulative viable
clinical pregnancy rate (P <0001) of 70.2% after nine inseminations
compared with the urine monitored cycles of 54.8%. The majority of patients
opted for the serum cycles, with a minority self-selecting the urine cycles
mainly for travelling convenience. The explanation for the significant
differences between the viable clinical pregnancy rates per insemination
and the cumulative viable clinical pregnancy rates may be due to the
sensitivity of the urine home test kit or the patients' interpretation of
the result.
相似文献
26.
27.
B lymphocytes secreting IgG linked to latent transforming growth factor- beta prevent primary cytolytic T lymphocyte responses 总被引:3,自引:0,他引:3
B lymphocytes secreting IgG linked to latent transforming growth factor
(TGF)-beta (IgG-TGF-beta) prevent cytolytic T lymphocyte (CTL) responses to
unrelated antigens in mixed lymphocyte cultures (MLC) so long as resting
resident macrophages and functional Fc receptors are present. This was
shown using IgG-secreting plaque-forming cells (PFC) to sheep erythrocytes
(SRBC) obtained from popliteal lymph nodes of mice injected repeatedly in
foot pads with SRBC. Remarkably, as few as approximately 300 PFC prevented
CTL responses of 5 x 10(5) normal syngeneic spleen cells in MLC.
Supranatants of short-term cultures of PFC also prevented CTL responses,
and suppression was prevented by eliminating or dissociating IgG and
TGF-beta present in supranatants or by antibody against active TGF-beta.
Furthermore, the latency- associated peptide of latent TGF-beta was
detected in approximately 10% of foci of IgG captured from single PFC,
indicating that at least some B lymphocytes secrete IgG-TGF-beta as a
complex. Resting resident macrophages (which do not produce latent
TGF-beta) and functional Fc receptors were required for suppression,
consistent with idea that IgG- TGF-beta is taken up through Fc receptors
for IgG and that active TGF- beta, cleaved from latent TGF-beta of the
complex, is delivered directly to potentially responding CTL. If CTL
responses in man are similarly regulated by B lymphocytes, then an ongoing
B cell response in patients with chronic viral infections or bearing
immunogenic cancers may prevent effective therapeutic vaccination.
相似文献
28.
29.
Kucharczyk W; Brant-Zawadzki M; Lemme-Plaghos L; Uske A; Kjos B; Feinberg DA; Norman D 《Radiology》1985,157(1):95-101
In multiple spin-echo image sequences of blood flow, the "even-echo" phenomenon produces an absolute increase in signal magnitude from first- to second-echo images of normal vessels harboring slow flow. Distinguishing this from the apparent relatively high signal intensity seen on second-echo images in pathologic foci of stationary tissue is important to the diagnostician. Selected case material containing two tissue types was reviewed retrospectively: tissues known to harbor slow flow, such as normal veins and venous sinuses and vascular malformations, and tissues that have long transverse (T2) relaxation times and appear as intense structures on second-echo images, such as neoplasms, infarcts, and regions of demyelination. Calculations of T2 parameters were made by computer for defined regions of interest. T2 images were also generated. Visual inspection of the acquired images did not reliably distinguish increased intensity due to even-echo rephasing from the relative changes between adjacent tissues seen on second-echo images. More definitive differentiation of the even-echo phenomenon was provided by calculated values of T2 and computer-synthesized T2 images representing acquired intensity data of two-echo sequences. The synthesized images were especially useful when stationary tissue with lengthened T2 values was adjacent to or in proximity to vessels or vascular lesions. A five spin-echo image sequence was valuable for separating slow flow from stationary tissue by a technique of synthesizing T2-difference images using three consecutive echoes. 相似文献
30.
Russell EJ; Geremia GK; Johnson CE; Huckman MS; Ramsey RG; Washburn-Bleck J; Turner DA; Norusis M 《Radiology》1987,165(3):609-617
Sixteen patients with suspected cerebral metastases were studied with magnetic resonance (MR) imaging before and after the intravenous administration of 0.1 mmol/kg of gadolinium diethylenetriaminepenta-acetic acid. The images were interpreted blindly by two neuroradiologists; all clinical, radiologic (computed tomographic and MR imaging), and pathologic data were reviewed to arrive at a final "best diagnosis," which was then compared with the prior blinded interpretations. Of seven patients found to have multiple metastases, six (86%) had at least one tumor nodule depicted by postinfusion MR imaging that was missed by one or both observers on review of preinfusion images alone. Lesions missed on preinfusion studies were usually small nodules hidden by or not detected next to regions of high-signal edema thought to be related to the adjacent tumor nodule. The authors believe that contrast enhancement improves detection of metastatic foci with MR imaging and that the findings indicate broader implications for the detection of multiple lesions from other causes. 相似文献