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51.
Two additional families with popliteal pterygium syndrome are presented. Using previously published pedigrees, as well as the ones reported here, evidence is presented that supports an autosomal dominant mode of inheritance for this syndrome. Analysis of previous familial cases showed a large degree of between and within-family variation. The segregation analysis supports the dominant hypothesis (P=0.5). 相似文献
52.
53.
Permanent impairment of embryo development by hydrosalpinges 总被引:6,自引:9,他引:6
Recent reports suggest a deleterious effect of hydrosalpinges on pregnancy
outcome for in-vitro fertilization (IVF) and improvement following surgical
treatment. We compared the effect of hydrosalpinx on pregnancy outcome in
286 patients having 348 IVF cycles and followed the development of
untransferred embryos for 7 days to determine if hydrosalpinges affect
oocyte quality or embryo development. The delivery rate per retrieval was
significantly lower for patients with hydrosalpinx, but was restored by
surgical treatment to that of patients without hydrosalpinx. However, the
implantation rate per embryo transferred and normal blastulation of
untransferred embryos, which were significantly decreased in patients with
hydrosalpinx, and growth arrest and degeneration of untransferred embryos,
which were significantly increased compared to patients without
hydrosalpinx, were not restored by surgical treatment of hydrosalpinges. We
conclude that surgical treatment of hydrosalpinges decreases early
pregnancy loss and improves pregnancy outcome, possibly by diminishing
reversible deleterious effects exerted on the endometrium. As we have seen
in our laboratory, hydrosalpinges may have a permanent negative influence
on ovarian function, follicular development and oocyte quality since
implantation of transferred embryos and normal blastulation of
untransferred embryos remain low, and in-vitro growth arrest and
degeneration remain high despite surgical treatment of hydrosalpinges.
相似文献
54.
Evidence implicating aromatization of testosterone in the regulation of male ferret sexual behavior 总被引:2,自引:0,他引:2
We compared the effects of the aromatase inhibitor, 1,4,6-androstatriene-3,17-dione (ATD) and castration on the expression of mating behavior in adult male ferrets which were in breeding condition. Males implanted SC with Silastic capsules containing ATD displayed significantly less neck gripping, mounting and intromittive behavior than intact males which received empty capsules, although the ATD-induced reductions in behavior were not as large as those seen after castration. ATD had no effect on mating behavior in castrated males. As reported in another publication, brain aromatase activity was significantly reduced in both the intact and castrated males treated with ATD in the present study. Plasma estradiol (E2) levels were uniformly low in intact and castrated males, regardless of whether they received ATD or no steroid. As expected, plasma testosterone (T) levels were significantly lower in castrated than in intact males, and ATD treatment did not affect these values. These results suggest that E2 formed via the neural aromatization of T contributes to the activation of masculine sexual behavior in intact male ferrets in breeding condition. 相似文献
55.
Relationship between phagocytosis and immunoglobulin A release from human colostral macrophages.
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Macrophages and neutrophils that contain mainly secretory immunoglobulin A (IgA) comprise the majority of cells in human colostrum. These cell populations were separated and analyzed for their ability to release total IgA and secretory IgA when stimulated to phagocytose. Colostral macrophages phagocytosed opsonized bacteria and nonopsonized latex particles; at the same time, IgA was released. Neutrophils poorly phagocytosed opsonized bacteria but actively phagocytosed latex particles. In contrast to the macrophages, the neutrophils did not release IgA, even after active phagocytosis of latex. Consequently, colostral macrophages are the main source of IgA released from colostral leukocytes when these cells are exposed to organisms or particles that are phagocytosed. A function for colostral neutrophils which sequester IgA is proposed. 相似文献
56.
Astrid LA. Kuijpers Rolph Pfundt Patrick LJM Zeeuwen Henri OF. Molhuizen Edwin CM. Mariman Peter CM. van de Kerkhof Joost Schalkwijk 《Clinical genetics》1998,54(1):96-101
Psoriasis is a multifactorial skin disease characterised by epidermal abnormalities and infiltration by lymphocytes and polymorphonuclear leukocytes (PMN). Skin-derived antileukoproteinase (SKALP), also known as elafin, is a potent inhibitor of human leukocyte elastase and proteinase 3, two PMN-derived proteinases implicated in tissue destruction and leukocyte migration. We have shown that, at least at the protein level, SKALP is significantly decreased in lesional skin of patients with pustular psoriasis compared with plaque-type psoriasis. This finding raised the possibility that SKALP could be one of the candidate genes for pustular forms of psoriasis. We therefore performed single strand conformation polymorphism (SSCP) analysis on the SKALP gene to screen for mutations/polymorphisms in the exons of 30 patients with plaque-type psoriasis, 15 patients with pustular psoriasis and 48 healthy controls. In exon 1 a polymorphism was detected at position + 43 relative to the translation start site, resulting in a substitution of threonine for alanine in the signal peptide. In the promoter region a dinucleotide repeat polymorphism was identified. Both polymorphisms were not associated with pustular psoriasis, or psoriasis in general. Our data indicate that the decrease in SKALP activity in pustular psoriasis is not caused by mutations in the coding region of the gene, and that there is no allelic association between pustular psoriasis and SKALP gene polymorphisms. 相似文献
57.
Use of the automatic external defibrillator in the management of out-of-hospital cardiac arrest 总被引:14,自引:0,他引:14
W D Weaver D Hill C E Fahrenbruch M K Copass J S Martin L A Cobb A P Hallstrom 《The New England journal of medicine》1988,319(11):661-666
The automatic external defibrillator is a simple device that can be used by nonprofessional rescuers to treat cardiac arrest. In 1287 consecutive patients with out-of-hospital cardiac arrest, we assessed the results of initial treatment with this device by firefighters who arrived first at the scene, as compared with the results of standard defibrillation administered by paramedics who arrived slightly after the firefighters. Of 276 patients who were initially treated by firefighters using the automatic defibrillator, 84 (30 percent) survived to hospital discharge (expected rate according to a logistic model, 17 percent; P less than 0.001), as compared with 44 (19 percent) of 228 patients when fire-fighters delivered only basic cardiopulmonary resuscitation and the first defibrillation was performed after the arrival of the paramedic team. Few patients with conditions other than ventricular fibrillation survived. In a multivariate analysis of characteristics that influenced survival after ventricular fibrillation, a better survival rate was related to a witnessed collapse (odds ratio, 3.9; 95 percent confidence interval, 2.0 to 7.6), younger age (odds ratio, 1.2; 95 percent confidence interval, 1.0 to 1.4), the presence of "coarse" (higher-amplitude) fibrillation (odds ratio, 4.2; 95 percent confidence interval, 1.6 to 11.0), a shorter response time for paramedics (odds ratio, 1.4; 95 percent confidence interval, 1.0 to 2.1), and initial treatment by firefighters using an automatic external defibrillator (odds ratio, 1.8; 95 percent confidence interval, 1.1 to 2.9). These findings support the widespread use of the automatic external defibrillator as an important part of the treatment of out-of-hospital cardiac arrest, although the overall impact of the use of this device on community survival rates is still uncertain. 相似文献
58.
Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II? 总被引:1,自引:0,他引:1
We report on 5 relatives in 3 generations with an apparent new type of distal arthrogryposis. These individuals have manifestations of type I distal arthrogryposis, but in addition, have craniofacial anomalies that include facial asymmetry, hypertelorism, downslanting palpebral fissures, high nasal bridge, malar hypoplasia, micrognathia, highly arched palate, notched chin, and posteriorly angulated ears. Their intelligence is normal. Although these manifestations preclude us from placing this family in the type I (isolated) distal arthrogryposis category, we also are unable to place them in any of the recognized subtypes of type II distal arthrogryposis. Thus, we think this family may have a previously undescribed form of autosomal dominant type II distal arthrogryposis. 相似文献
59.
60.
Improvements in biochemical assays, radiographic imaging, and perioperative monitoring; the availability of selective adrenergic blockers; and a better understanding of the pathophysiology of the disease have all contributed to the reduction in mortality and morbidity in patients with pheochromocytomas. Twenty-four-hour urinary catecholamines are more reliable than blood levels in detecting pheochromocytomas. The diagnosis may be confirmed by elevated epinephrine fractions when total catecholamine levels are normal. Computerized tomography is the preferred imaging tool, although ultrasound and magnetic resonance are preferred during pregnancy. 131I iobenguane scanning is useful in locating extra-adrenal disease and may have a role in the treatment of metastases. Total alpha-adrenergic blockade with phenoxybenzamine versus selective (alpha 1) blockage with prazosin are equally effective preoperatively. Invasive monitoring is necessary in all patients, and agents to control arrhythmias, hypertension, hypotension, and cardiac arrest are prepared in advance. Patients with benign lesions have an excellent cure rate, and those with malignancies have effective palliation of their symptoms. 相似文献