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41.
42.
Olaru A Mori Y Yin J Wang S Kimos MC Perry K Xu Y Sato F Selaru FM Deacu E Sterian A Shibata D Abraham JM Meltzer SJ 《Laboratory investigation; a journal of technical methods and pathology》2003,83(12):1867-1871
The activin type II receptorgene (ACTRII) is mutated in 58.1% of microsatellite-unstable (MSI-H) colorectal cancers and is a close relative of the TGFbeta-1 type II receptor, which is known to be involved in both MSI-H and non-MSI-H colorectal carcinogenesis. We therefore sought to determine whether ACTRII was involved in non-MSI-H colorectal cancers. We evaluated ACTRII inactivation by allelic deletion, loss of mRNA expression, or somatic mutation in 51 non-MSI-H colon cancers. Loss of heterozygosity (LOH) at the ACTRII locus (2q23.1) was found in 9 (17.6%) of 51 primary tumors. Loss of ACTRII mRNA expression was seen in one (14.3%) of the seven LOH-positive primary tumors from which total RNA was available. We also performed DNA sequencing analysis of tumors showing LOH. One LOH-positive primary tumor exhibited a novel germline missense sequence alteration (amino acid substitution, 117 Ile to Phe) that was not found in 23 additional normal individuals, implying that this alteration is not a frequent polymorphism. We conclude that ACTRII is probably involved in both non-MSI-H and MSI-H colorectal carcinogenesis, but more frequently in the latter subgroup. 相似文献
43.
Y chromosome deletions in azoospermic and severely oligozoospermic men undergoing intracytoplasmic sperm injection after testicular sperm extraction 总被引:11,自引:16,他引:11
Silber SJ; Alagappan R; Brown LG; Page DC 《Human reproduction (Oxford, England)》1998,13(12):3332-3337
Y chromosome deletions encompassing the AZFc region have been reported in
13% of azoospermic men and 7% of severely oligozoospermic men. We examined
the impact of these Y deletions on the severity of testicular defects in 51
azoospermic men undergoing intracytoplasmic sperm injection (ICSI) after
testicular sperm extraction (TESE) and 30 men with severe oligozoospermia
undergoing ICSI after ejaculation of spermatozoa. In addition, five
azoospermic patients shown previously to have Y chromosome deletions
underwent histological evaluation of their previously obtained testis
biopsy specimens. A further 27 azoospermic men underwent TESE-ICSI, but not
Y chromosome DNA testing. Ten of 51 azoospermic men (20%) who underwent
TESE-ICSI and Y-DNA testing were found to be deleted for portions of the Y
chromosome AZFc region. Of these 10, five had spermatozoa retrievable from
the testis, and in two cases the wives became pregnant. Of the 41
azoospermic men with no Y chromosome deletion, 22 (54%) had spermatozoa
retrievable from the testis, and in 12 cases (29%) the wives became
pregnant. Four of 30 (13%) severely oligozoospermic patients were found to
be deleted for AZFc and in three (75%) of these pregnancy was achieved. The
other 26 severely oligozoospermic couples who had no AZFc deletions
underwent ICSI, and 12 (46%) have an ongoing or delivered pregnancy. The
embryo implantation rate was not significantly different for azoospermic
(22%), oligozoospermic (16%), Y-deleted (14%) or Y-intact (18%) men. Of the
total of 19 infertile men who had Y chromosome deletions, 14 had deletions
within Y chromosome intervals 6D-6F, in the AZFc region. Twelve of those 14
had some spermatozoa (however few in number) in the ejaculate or testis.
Five of the Y-deleted men had deletions that extended more proximally on
the Y chromosome, and in none of these could any spermatozoa be observed in
either ejaculate or testis. These results support the concept that, in
azoospermic or oligozoospermic men with Y chromosome deletions limited to
intervals 6D-6F (AZFc), there are generally very small numbers of
testicular or ejaculated spermatozoa. Larger Y deletions, including and
extending beyond the AZFc region and encompassing more Y genes, tend to be
associated with a total absence of testicular spermatozoa. In those cases
where spermatozoa were retrieved, the presence of Y deletions had no
obvious impact on fertilization or pregnancy rate.
相似文献
44.
Lynne S. Rosenblum-Vos Stephen J. Meltzer Julie Leana-Cox Stuart Schwartz 《Cancer Genetics and Cytogenetics》1993,70(2):127-131
Cytogenetic analysis was performed on primary cultures of 21 squamous cell carcinomas of the esophagus (SCCE). Seven cases exhibited mosaic clonal chromosome abnormalities distributed as follows: two contained tetraploid cell populations, one with t(3;7)(p21;q11); two showed loss of the Y chromosome, one with double minutes; single cases demonstrated der(11)t(4;11)(q?27;q23); add(1)(p35) and del(4)(p12); and del(7)(p13), del(7)(q22q34), and der(11)t(7;11)(p?15;p?13). The remaining 14 cases had apparently normal karyotypes, possibly derived from stromal elements. These results demonstrate numerical abnormalities and the multiple occurrence of rearrangements involving chromosomes 7 and 11 in SCCE. 相似文献
45.
C Arbesman I L Bernstein C W Bierman J S Bocles R Katz P L Lieberman K Mattucci E O Meltzer E Middleton J Noyes D S Pearlman H L Pence R G Slavin S L Spector 《The Journal of allergy and clinical immunology》1983,71(6):597-603
Fluocortin butyl (FCB) is a newly synthesized corticosteroid with a high ratio of topical to systemic activity. FCB was studied in a multi-center, double-blind, placebo-controlled trial of therapy of perennial rhinitis. The study was conducted between January and May 1981. Patients evaluated suffered from either chronic allergic or chronic nonallergic rhinitis or both. A total of 306 patients from 16 investigative centers were evaluated by comparing FCB to placebo. Three separate dosage regimens were employed. Patients received a total daily dose of 2, 4, or 8 mg. FCB was found to be an effective therapeutic agent. It reduced symptoms of nasal congestion, rhinorrhea, postnasal drainage, and sneezing. It also markedly reduced the use of concomitant medications (chlorpheniramine maleate and/or pseudoephedrine). Relief of symptoms was noted as early as the first week of therapy, and the degree of improvement increased progressively during the study. There was little difference between the relief produced by the 4 mg and 8 mg regimens. Both of these were superior to the 2 mg regimen. The drug was well tolerated; no significant side effects were noted. 相似文献
46.
Queenan JT Jr; Veeck LL; Toner JP; Oehninger S; Muasher SJ 《Human reproduction (Oxford, England)》1997,12(7):1573-1576
In-vitro fertilization patients (n = 15) at risk of ovarian
hyperstimulation syndrome (OHSS) (oestradiol > or =4500 pg/ml on the day
of human chorionic gonadotrophin administration and 25 or more follicles of
intermediate or large size) underwent aspiration of all follicles and
cryopreservation of all fertilized oocytes at the pronuclear stage.
Patients were monitored for up to 2 weeks post- retrieval. Subsequent
transfer of cryopreserved-thawed embryos was performed in programmed cycles
using exogenous oestrogen and progesterone for endometrial preparation. Two
patients (13%) developed OHSS necessitating hospitalization and vaginal
aspiration of ascitic fluid. Two other patients (13%) developed moderate
OHSS requiring ascitic fluid vaginal aspiration in the office setting, with
dramatic improvement of the condition. Subsequent transfer of
cryopreserved- thawed embryos yielded a clinical pregnancy rate of 58% per
transfer and ongoing or delivery rates of 42 and 67% per transfer and per
patient respectively. By eliminating pregnancy potential with
cryopreservation of all prezygotes and examining the pregnancy potential
with subsequent cryopreserved-thawed transfers, it is concluded that OHSS
is reduced, but not eliminated for patients at risk. Subsequent transfer of
cryopreserved-thawed prezygotes in a programmed cycle with exogenous
steroids yields an excellent pregnancy rate.
相似文献
47.
Mercan R; Mayer JF; Walker D; Jones S; Oehninger S; Toner JP; Muasher SJ 《Human reproduction (Oxford, England)》1997,12(9):1886-1889
The aim of this study was to compare the efficacy of pure follicle
stimulating hormone (FSH) with that of FSH/human menopausal gonadotrophin
(HMG) combination in downregulated cycles. A total of 357 patients was
evaluated retrospectively. Sixty percent of patients in the FSH group and
55% in the FSH/HMG group were new; the others were repeat patients.
Ovulation was suppressed with leuprolide acetate in all patients, followed
by either FSH (n = 218) or FSH/HMG (n = 119). There was no difference in
patients' age, infertility factors, number of ampoules used, length of
stimulation, oestradiol levels on day of human chorionic gonadotrophin
(HCG) administration, number of oocytes recovered or the number of embryos
transferred. Also, nuclear maturity at aspiration and fertilization rates
were not different between the two groups. FSH stimulation resulted in a
significantly higher percentage of mature oocytes that showed the typical
'mature' morphological characteristics (P < 0.0001). The clinical
pregnancy rates per transfer were 40 and 28% in patients stimulated with
pure FSH and FSH/HMG respectively (P < 0.05). The significantly higher
number of immature oocytes matured in vitro in the FSH/HMG group (P =
0.001) suggests a possible effect on in-vitro maturation, due to
luteinizing hormone present in HMG. The difference in mature oocyte quality
may be an important determinant in the higher pregnancy rates for the FSH-
stimulated patients.
相似文献
48.
This report investigated differential cerebral impairment on the Luria-Nebraska Neuropsychological Battery in schizophrenia, schizoaffective, and depressive disorders (N = 106). Results indicated impaired tactile-stereognostic processing in schizoaffective and depressive disorder patients and verbal memory deficits in the schizophrenic and schizoaffective disorder patients. These findings question the specificity of functional neuropsychological deficit areas in schizophrenia and depression. 相似文献
49.
50.