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31.
Determination of the parent of origin in nine cases of prenatally detected chromosome aberrations found after intracytoplasmic sperm injection 总被引:1,自引:17,他引:1
Van Opstal D; Los FJ; Ramlakhan S; Van Hemel JO; Van Den Ouweland AM; Brandenburg H; Pieters MH; Verhoeff A; Vermeer MC; Dhont M; In't Veld PA 《Human reproduction (Oxford, England)》1997,12(4):682-686
Prenatal cytogenetic analysis of 71 fetuses conceived by intracytoplasmic
sperm injection (ICSI) resulted in the detection of nine (12.7%) chromosome
aberrations including two cases of 47,XXY, four cases involving a 45,X cell
line and three autosomal trisomies. Molecular analysis of the parental
origin of the deleted or supernumerary chromosome was performed by using
polymorphic microsatellite markers. Six cases involving a sex chromosome
abnormality were found to be of paternal origin while the two trisomic
cases that could be analysed were of maternal origin. Two cases involved
the same infertile couple who had two consecutive ICSI pregnancies
terminated because of a chromosome abnormality. The replaced embryos in
both cases originated from a single batch of ICSI fertilized oocytes of
which part was used to initiate the first pregnancy and part was
cryopreserved and used to initiate the second pregnancy.
相似文献
32.
Harry S. Spaulding Jr. M.D.COL MC Lyndon E. Mansfield M.D.LTC MC Mark R. Stein M.D. John C. Sellner M.D. Daniel E. Gremillion M.D. 《The Journal of allergy and clinical immunology》1982,69(6):516-521
A double-blind modification of the intraesophageal acid perfusion challenge (Bernstein procedure) was performed in asthmatic subjects with and without gastroesophageal reflux, nonasthmatic subjects with reflux, and normal subjects. Conventional spirometric functions and total respiratory resistance (Rrs) were measured prior to and after the infusion. There were no changes in pulmonary functions except in the asthmatic subjects who had had a positive add challenge. The greatest changes occurred in Rrs, which increased significantly with reflux symptoms (p < 0.01) and decreased toward baseline (p < 0.05) when these symptoms were relieved with antacids. The response was even greater in asthmatic subjects who associated reflux symptoms with attacks of asthma. These results support previous findings that acid reflux symptoms could cause a bronchoconstrictive response in certain asthmatic patients. 相似文献
33.
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations 总被引:21,自引:0,他引:21
Fingert JH Héon E Liebmann JM Yamamoto T Craig JE Rait J Kawase K Hoh ST Buys YM Dickinson J Hockey RR Williams-Lyn D Trope G Kitazawa Y Ritch R Mackey DA Alward WL Sheffield VC Stone EM 《Human molecular genetics》1999,8(5):899-905
A glaucoma locus, GLC1A, was identified previously on chromosome 1q. A gene within this locus (encoding the protein myocilin) subsequently was shown to harbor mutations in 2-4% of primary open angle glaucoma patients. A total of 1703 patients was screened from five different populations representing three racial groups. There were 1284 patients from primarily Caucasian populations in Iowa (727), Australia (390) and Canada (167). A group of 312 African American patients was from New York City and 107 Asian patients from Japan. Overall, 61 different myocilin sequence variations were identified. Of the 61 variations, 21 were judged to be probable disease-causing mutations. The number of probands found to harbor such mutations in each population was: Iowa 31/727 (4.3%), African Americans from New York City 8/312 (2.6%), Japan 3/107 (2.8%), Canada 5/167 (3.0%), Australia 11/390 (2.8%) and overall 58/1703 (3. 4%). Overall, 16 (76%) of 21 mutations were found in only one population. The most common mutation observed, Gln368Stop, was found in 27/1703 (1.6%) glaucoma probands and was found at least once in all groups except the Japanese. Studies of genetic markers flanking the myocilin gene suggest that most cases of the Gln368Stop mutations are descended from a common founder. Although the specific mutations found in each of the five populations were different, the overall frequency of myocilin mutations was similar ( approximately 2-4%) in all populations, suggesting that the increased rate of glaucoma in African Americans is not due to a higher prevalence of myocilin mutations. 相似文献
34.
Is the outcome of in-vitro fertilization and embryo transfer treatment improved by spontaneous or surgical drainage of a hydrosalpinx? 总被引:4,自引:7,他引:4
Sowter MC; Akande VA; Williams JA; Hull MG 《Human reproduction (Oxford, England)》1997,12(10):2147-2150
A pilot study was designed to examine whether the outcome of embryo
transfer in women with a hydrosalpinx might be improved by surgical
drainage of the hydrosalpinx at the time of oocyte collection for in- vitro
fertilization treatment. A comparative, controlled but retrospective
analysis of the results was performed of all women with infective tubal
damage aged <40 years old, who had ovulatory cycles, a normal uterus and
a partner with normal spermatozoa. A standardized treatment regimen was
used. A maximum of three embryos were transferred. Hydrosalpinx was defined
by prior hysterosalpingography and/or laparoscopy with transcervical dye
injection. A total of 237 embryo transfer cycles in women with
hydrosalpinges (tubal distension not visible in 151, visible but not
drained in 30 and drained in 56) were compared with 705 embryo transfer
cycles in women with tubal disease but no hydrosalpinx. Results were
analysed in the first three cycles but also separately in the first cycle
to check for bias. Success rates were higher in the first cycle, but did
not significantly influence overall differences. Implantation rates were
significantly reduced overall in the hydrosalpinx group (8.0 versus 13.2%
for controls; P < 0.001), being 8.3% (P < 0.01) in the subgroup
without evident tubal distension and 7.5% (not significant) in the drained
hydrosalpinx group. This study shows that tubal damage with distal
occlusion is associated with a marked reduction in embryo implantation,
even in the absence of obvious fluid distension. Surgical drainage of
distended hydrosalpinges appears to offer no benefit.
相似文献
35.
Canfield MC; Tamarappoo BK; Moses AM; Verkman AS; Holtzman EJ 《Human molecular genetics》1997,6(11):1865-1871
Congenital nephrogenic diabetes insipidus (NDI) is a rare disease caused
most often by mutations in the vasopressin V2 receptor (AVPR2). We studied
a family which included a female patient with NDI with symptoms dating from
infancy. The patient responded to large doses of desmopressin (dDAVP) which
decreased urine volume from 10 to 4 I/day. Neither the parents nor the
three sisters were polyuric. The patient was found to be a compound
heterozygote for two novel recessive point mutations in the aquaporin-2
(AQP2) gene: L22V in exon 1 and C181W in exon 3. Residue Cys181 in AQP2 is
the site for inhibition of water permeation by mercurial compounds and is
located near to the NPA motif conserved in all aquaporins. Osmotic water
permeability (Pf) in Xenopus oocytes injected with cRNA encoding C181W-AQP2
was not increased over water control, while expression of L22V cRNA
increased the Pf to approximately 60% of that for wild-type AQP2.
Co-injection of the mutant cRNAs with the wild-type cRNA did not affect the
function of the wild-type AQP2. Immunolocalization of AQP2-transfected CHO
cells showed that the C181W mutant had an endoplasmic reticulum-like
intracellular distribution, whereas L22V and wild-type AQP2 showed endosome
and plasma membrane staining. Water permeability assays showed a high Pf in
cells expressing wild-type and L22V AQP2. This study indicates that AQP2
mutations can confer partially responsive NDI.
相似文献
36.
The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission 总被引:2,自引:5,他引:2
Murray A; Macpherson JN; Pound MC; Sharrock A; Youings SA; Dennis NR; McKechnie N; Linehan P; Morton NE; Jacobs PA 《Human molecular genetics》1997,6(2):173-184
Factors involved in the stability of trinucleotide repeats during
transmission were studied in 139 families in which a full mutation,
premutation or intermediate allele at either FRAXA or FRAXE was
segregating. The transmission of alleles at FRAXA, FRAXE and four
microsatellite loci were recorded for all individuals. Instability within
the minimal and common ranges (0-40 repeats for FRAXA, 0-30 repeats for
FRAXE) was extremely rare; only one example was observed, an increased in
size at FRAXA from 29 to 39 repeats. Four FRAXA and three FRAXE alleles in
the intermediate range (41-60) repeats for FRAXA, 31-60 for FRAXE) were
unstably transmitted. Instability was more frequent for FRAXA intermediate
alleles that had a tract of pure CGG greater than 37 although instability
only occurred in two of 13 such transmissions: the changes observed were
limited to only one or two repeats. Premutation FRAXA alleles over 100
repeats expanded to a full mutation during female transmission in 100% of
cases, in agreement with other published series. There was no clear
correlation between haplotype and probability of expansion of FRAXA
premutations. Instability at FRAXA or FRAXE was more often observed in
conjunction with a second instability at an independent locus suggesting
genomic instability as a possible mechanism by which at least some FRAXA
and FRAXE mutations arise.
相似文献
37.
Lara J. Akinbami Philip A. Chan Nga Vuong Samira Sami Dawn Lewis Philip E. Sheridan Susan L. Lukacs Lisa Mackey Lisa A. Grohskopf Anita Patel Lyle R. Petersen 《Emerging infectious diseases》2021,27(3):823
Healthcare personnel are recognized to be at higher risk for infection with severe acute respiratory syndrome coronavirus 2. We conducted a serologic survey in 15 hospitals and 56 nursing homes across Rhode Island, USA, during July 17–August 28, 2020. Overall seropositivity among 9,863 healthcare personnel was 4.6% (95% CI 4.2%–5.0%) but varied 4-fold between hospital personnel (3.1%, 95% CI 2.7%–3.5%) and nursing home personnel (13.1%, 95% CI 11.5%–14.9%). Within nursing homes, prevalence was highest among personnel working in coronavirus disease units (24.1%; 95% CI 20.6%–27.8%). Adjusted analysis showed that in hospitals, nurses and receptionists/medical assistants had a higher likelihood of seropositivity than physicians. In nursing homes, nursing assistants and social workers/case managers had higher likelihoods of seropositivity than occupational/physical/speech therapists. Nursing home personnel in all occupations had elevated seropositivity compared with hospital counterparts. Additional mitigation strategies are needed to protect nursing home personnel from infection, regardless of occupation. 相似文献
38.
C S McEnroe T F O'Donnell A Yeager M Konstam W C Mackey 《Journal of vascular surgery》1990,11(4):497-504
Associated coronary artery disease is the critical factor that influences early and late mortality after abdominal aortic aneurysm surgery. Dipyridamole-thallium 201 scintigraphy, left ventricular ejection fraction, and Goldman risk factor analysis have been suggested as preoperative noninvasive screening methods to detect significant coronary artery disease. In this series of 95 elective abdominal aortic aneurysm repairs dipyridamole-thallium 201 scintigraphy was highly predictive of the absence of perioperative cardiac morbidity (96% specificity, 44/46 normal scans, no cardiac morbidity), whereas ejection fraction (73% specificity, 31/42 normal ejection fraction, no cardiac morbidity) and Goldman risk factor analysis (84% specificity, 44/51 class I, no cardiac morbidity) were less. Furthermore, thallium redistribution on dipyridamole-thallium 201 scintigraphy leading to coronary angiography identified a significant number of patients with occult coronary artery disease who required preoperative coronary revascularization (8%, 8/95) and might have remained undetected on the basis of left ventricular ejection fraction or Goldman risk factor analysis. Finally, fixed thallium deficit, which some investigators have interpreted as a low probability finding for cardiac morbidity, was associated with a higher than expected incidence of cardiac complications. Forty-six percent (7/15) of all postoperative cardiac complications (three myocardial infarctions, three ischemic events, one death) occurred in patients with abdominal aortic aneurysms with fixed deficits. This suggests that patients with fixed deficits on dipyridamole-thallium 201 scintigraphy should be considered for later "delayed" (4 hours) thallium images or coronary angiography or both. 相似文献
39.
Analysis of human cancer DNA's for DNA sequence of human adenovirus serotypes 3, 7, 11, 14, 16, and 21 in group B1 总被引:2,自引:0,他引:2
We have investigated whether Group B human adenoviruses (Ad) (Ad3, Ad7, Ad11, Ad14, Ad16, and Ad21), which are widespread in the human population and are tumorigenic in hamsters, may play a role in human cancer. Hybridization of Ad7-radiolabeled DNA with DNA's from an Ad7-induced primary hamster tumor and from two cell lines (5728 and Ad7 P-cell) established from Ad7-induced hamster tumors indicated multiple copies per cell of 17, 30 to 36, and 20%, respectively of the Ad7 genome. Thus, cells transformed by Group B Ads resemble cells transformed by Group C and Group A Ad's in that they retain multiple copies of a variable fraction of the viral genome. These model studies suggest that possible Group B Ad-induced human cancer cells should contain one or more copies of virus DNA per cell. Therefore, we assayed human cancer DNA's for Ad sequences, by highly sensitive "saturation-hybridization" reactions with Ad7 or Ad11 DNA (4 X 10(6) to 2.1 x 10(8) cpm/microgram). We concentrated on cancers of the respiratory and digestive systems, because these systems are the most common sites of infection by Group B Ad's. In 8 independent experiments, no Ad7 sequences were detected in DNA's from 16 normal lung tissues, 18 normal tissues of the digestive system, 34 cancers of the respiratory system, 19 cancers of the digestive system, 11 cancers of the urinary system, 5 cancers of the genital system, 3 cancers of the breast, and 6 Hodgkin's lymphomas. Reconstruction controls with added Ad7 DNA indicated that about 0.05 to 0.1 copy of Ad7 DNA per cell should be detected. Ad11 is strongly implicated as a cause of acute hemorrhagic cystitis. In two independent experiments, no Ad11 sequences were detected in DNA's from 9 carcinomas of bladder, 10 carcinomas of prostate, 24 carcinomas of kidney, 3 hypernephromas, 3 Wilms' tumors, or 2 normal kidneys. Reconstruction experiments indicated that the cancer DNA assays had a sensitivity of 0.05 to 0.1 copy of Ad11 DNA per cell. The DNA's of Group B Ad's are greater than 85% homologous by hybridization; thus, these results are applicable to all Group B serotypes. Our data provide evidence (but not formal proof) that none of the human cancers that we analyzed were induced by Group B Ad's. These tumors represent about 50% of the tumors that affect humans. The possible involvement of Group B Ad's in other less common forms of human cancers is under investigation in our laboratory. 相似文献
40.
Thomas F Hack Tom Pickles Barry D Bultz J Dean Ruether Lorna M Weir Lesley F Degner John R Mackey 《Journal of clinical oncology》2003,21(22):4138-4144
PURPOSE: Women with breast cancer were provided with an audiotape of their primary adjuvant treatment consultation, and the following patient outcomes were measured at 12 weeks postconsultation: perceived degree of information provision, audiotape satisfaction and use, communication satisfaction with oncologist, mood state, and cancer-specific quality of life. PATIENTS AND METHODS: Participants included 628 women newly diagnosed with breast cancer and 40 oncologists from six cancer centers in Canada. The patients were block randomized to one of four consultation groups: standard care control, not audiotaped; audiotaped, no audiotape given; audiotaped, patient given audiotape; and audiotaped, patient offered choice of receiving audiotape or not. RESULTS: Patients receiving the consultation audiotape had significantly better recall of having discussed side effects of treatment than patients who did not receive the audiotape. Audiotape benefit was not significantly related to patient satisfaction with communication, mood state, or quality of life at 12 weeks postconsultation, and was not significantly affected by choice of receiving the audiotape. Patients rated the audiotape intervention positively, with an average score of 83.9 of 100. CONCLUSION: Audiotape provision benefits patients by facilitating their perception of being informed about treatment side effects, but does not significantly influence patient satisfaction with communication, mood state, or quality of life. 相似文献