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1.
The incidence of cystic fibrosis (CF) has previously been calculated from epidemiological surveys and from neonatal screening. With the cloning of the CF gene it has become possible to derive incidence figures from heterozygote frequencies, provided that the distribution of mutant alleles among healthy carriers is the same as among affected people. We have estimated the allele frequencies for four CF mutations, AF508, G551D, G542X and R117H, in 14360 unselected women undergoing antenatal heterozygote screening. The proportion of R117H, an allele of known mild effect, was much greater for heterozygotes than for homozygotes. The incidence of CF was therefore calculated from the heterozygote frequencies of AF508, G551D and G542X in a larger cohort of 27 161 successively screened women. The point estimate for the incidence of CF in the Scottish population was 1 in 1984, with 95% confidence intervals of 1 in 1692 to 1 in 2336.  相似文献   

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Systemic enzymes (wobenzime and wobe-mugos) were approved, that had been prescribed as part of polychemotherapy to 24 patients with malignant lymphomas, who presented with large masses of lymphatic nodes poorly resorbable against the background of polychemotherapy and who were assigned for a high-total dose irradiation, which fact would undoubtedly entail sclerosing of adjacent intact tissues. The use of the enzymes made for the optimum realization of the polychemotherapy effect and permitted avoiding a good many of undesirable side events and complication thereof. The above systemic enzymes are well tolerated by patients; they induce no significant changes in the cellular composition or in blood biochemical indices.  相似文献   

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BACKGROUND: We report about a primary Non-Hodgkin Lymphoma (NHL) of the internal auditory canal. The only previously known manifestations of a NHL in the temporal bone have been infiltrations or hemorrhagic complications due to a late manifestation or advanced systemic disease. Involvement of both temporal bones is typical. CLINICAL CASE: The 60-year-old female patient complained of an acute one-sided deafness, accompanied by a high-pitched tinnitus, rotating vertigo, and paralysis of the left half of the face. RESULTS: We found a deafness in the left ear, spontaneous nystaxis, which was interpreted as a deficiency in excitement of the vestibular organ, and a complete peripheral facial paralysis. Diagnostic imaging studies revealed a large, intrameatal solid mass in the temporal bone, measuring 1.2 x 0.8 cm. Histologic examination after translabyrinthine tumor removal demonstrated a centroblastic Non-Hodgkin Lymphoma. The following extensive interdisciplinary staging examination showed no other tumor manifestations; the CSF analysis was negative. CONCLUSIONS: The uniqueness of this case lies in the detection of a primary nongeneralized centroblastic lymphoma of the internal auditory canal. In contrast to infiltrations of systemic NHL in the same location, in which the advanced disease is responsible for the bad prognosis, this isolated lymphoma of the internal auditory canal seems analogous to extranodal MALT Lymphomas with a better prognosis. The primary extranodal NHL of the temporal bone, not reported in previous studies, is discussed with regard to clinical symptoms, differential diagnoses, and therapeutic strategies.  相似文献   

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Oscillatory potentials (OP) of the electroretinogram (ERG) of 20 subjects providing 30 normal eyes were recorded by means of Ganzfeld stimulation at 11 stimulus intensities. It was found that intensity-implicit time functions of the OP components are exponential, while the intensity-response curves are highly variable. The amplitudes of the four wavelets showed relatively large coefficients of variation and intersubject variation, while those of the implicit time are small. Thus it appears that measurement of oscillatory potential implicit time rather than amplitude may provide a more reliable index to access certain retinal condition.  相似文献   

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There are few reports of anterior communicating artery aneurysms causing visual symptoms, and penetration of the optic chiasm by such aneurysms has not been reported. A 40-year-old man presented with the abrupt onset of left homonymous hemianopsia, right visual acuity disturbance (finger counting), and slight headache. Angiography disclosed a 7-mm anterior communicating artery aneurysm projecting inferiorly. After the neck of the aneurysm was clipped, the dome of the aneurysm was resected. The operation confirmed that the aneurysm had penetrated the right half of the optic chiasm and the thrombosed dome had also compressed the right optic tract. Although the aneurysm was successfully clipped, the visual disturbance persisted after surgery, suggesting that the damage to the visual pathways by aneurysm penetration was irreversible in this case.  相似文献   

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Total methanol extract of Saussurea lappa radix (Compositae) showed potent inhibitory effect on the production of tumor necrosis factor-alpha (TNF-alpha), a proinflammatory cytokine, in murine macrophage-like cell (RAW264.7 cells) in our previous screening studies on 120 Korean medicinal plants. The activity-guided purification of the plant resulted in the isolation of three components. The chemical structures of the components isolated were established by spectroscopic analyses as sesquiterpene lactones [cynaropicrin (1), reynosin (2), and santamarine (3)]. These three compounds inhibited TNF-alpha production in a dose-dependent manner. The molar concentrations of cynaropicrin, reynosin, and santamarine producing 50% inhibition (IC50) of TNF-alpha production were 2.86 micrograms/ml (8.24 microM), 21.7 micrograms/ml (87.4 microM), and 26.2 micrograms/ml (105 microM), respectively. However, treatment with sulphydryl (SH) compounds such as L-cysteine, dithiothreitol, and 2-mercaptoethanol abrogated the inhibitory effect of cynaropicrin on TNF-alpha production. Therefore, we conclude that the principal inhibitory component of Saussurea lappa is cynaropicrin and its inhibitory effect is mediated through conjugation with SH-groups of target proteins.  相似文献   

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This article reports our use of intraoperative sonography to guide in real time, the removal of radiolucent foreign bodies from five patients. Two of these patients had undergone previous unsuccessful attempts at surgical removal in the operating room. The technique is cost effective, readily available, and can be very helpful in locating difficult-to-find radiolucent foreign bodies at the time of surgery.  相似文献   

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We analysed retrospectively 460 patients treated between March 1991 and February 1992, in respect to a correct perioperative antibiotic prophylaxis. In our opinion a correct prophylaxis is a single-shot application, with a second dose given only during long operations (over 3 hours) or when blood loss is great. 240 of the 460 patients analysed (52.2%) were given antibiotics prophylactically. In 76.6% of the cases (n = 184) the prophylaxis was performed correctly. In 23.4% (n = 56) antibiotic application was extended indiscriminately into the post-operative phase. This calculated to costs three times higher than those actually necessary, causing us to spend 22,000-Swiss francs unnecessarily, one twelfth of the total cost of antibiotic treatment in our hospital each year. For economic reasons as well as to keep growth of resistant strains in check, an antibiotic prophylaxis should be restricted to the perioperative period in most cases as a single shot only.  相似文献   

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Four cases of large angle exotropia secondary to third nerve palsy are presented. An effective technique involving recession of the lateral rectus and splitting and advancement of the medial rectus is presented.  相似文献   

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OBJECTIVE: To report successful desensitization in a patient with a history of end-stage renal disease (ESRD) and anaphylactic shock after receiving vancomycin. CASE SUMMARY: A 47-year-old white woman with a history of ESRD was admitted to the hospital reporting persistent nausea, vomiting, and diffuse abdominal pain. She had developed anaphylactic shock after exposure to vancomycin 3 years prior to this hospitalization. The patient's hospital course was complicated by septic shock and positive blood cultures for methicillin-resistant Staphylococcus epidermidis. The patient tolerated vancomycin desensitization and received intravenous vancomycin 100 mg/d for 21 days. DISCUSSION: The desensitization protocol used in this report allows for gradual increases in vancomycin serum concentrations, avoiding peak and trough concentrations that occur with intravenous boluses. Maintaining the desensitized state is dependent on the continuous presence of the antigen with a return of clinical sensitivity after drug discontinuation. The vancomycin desensitization protocol and subsequent dosing strategy was used to ensure the continuous presence of vancomycin at steady-state concentrations to prevent the return of anaphylactic sensitivity. CONCLUSIONS: Desensitization was successful in a patient with ESRD and history of anaphylactic shock to vancomycin.  相似文献   

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原发性纵隔大B细胞淋巴瘤(PMBCL)是弥漫大B细胞淋巴瘤(DLBCL)的一种特殊类型,具有独特的临床表现及病理学、分子生物学特征.目前尚无标准的治疗方案,回顾性分析表明第三代的化疗方案优于CHOP方案,利妥昔单抗的应用缓解了这种差异,是否需要接受联合放疗尚无定论.未来将脱氧葡萄糖-正电子发射计算机断层显像(FDG-PET)用于PMBCL的疗效评估,如果能提供可靠的预后信息,就可以减轻治疗强度.  相似文献   

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Lymphoma, mediastinal cysts, and neurogenic neoplasms are the most common primary middle and posterior mediastinal tumors. Lymphoma may involve the anterior, middle and/or posterior mediastinum, frequently as lymphadenopathy or as a discrete mass. Foregut cysts are common congenital mediastinal cysts and frequently arise in the middle mediastinum. Pericardial cysts are rare. Schwannoma and neurofibroma are benign peripheral nerve neoplasms, represent the most common mediastinal neurogenic tumors, and rarely degenerate into malignant tumors of nerve sheath origin. Sympathetic ganglia tumors include benign ganglioneuroma and malignant ganglioneuroblastoma and neuroblastoma. Lateral thoracic meningocele is a rare cause of a posterior mediastinal mass.  相似文献   

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We describe a unique case of a de novo desmoid tumor of the posterior mediastinum in a 21-year-old nulligravida. The tumor recurred twice despite its histologically confirmed radical extirpations. Because of the aggressive local behavior of desmoid tumors and their unusual locations, which prevent wide excision margins, we favor the early consideration of adjuvant therapy.  相似文献   

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