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Electrocardiographic and clinical characteristics are currently used as diagnostic criteria for the long QT-syndrome. In borderline electrocardiographic findings associated with unclear syncope, it is often difficult to ensure or exclude long QT-syndrome. Schwartz and coworkers therefore created a point system as a guide in clinical decision making. In recent years genetic diagnostics have entered the arena of long-QT assessment. Aside from new insights into the pathophysiology of the long QT-disorder, it is expected that genetic diagnostics will offer substantial help to ascertain long QT-syndrome in patients with borderline electrocardiographic and clinical findings and improve risk stratification in long-QT family members. Performing linkage analysis, coupling of autosomal-dominant congenital long QT-syndrome (Romano-Ward Syndrome) to chromosomes 11 (LQT1/11p15.5), 3 (LQT3/3p21), 7 (LQT2/7q35), and 4 (LQT4/4q25-27) was demonstrated. More recently, the disease genes in long QT-syndrome 1, 2, and 3 could be identified. Analysis of the base-pair sequence allowed detection of several different mutations in different families illustrating genetic heterogeneity. Aside from diagnostic aspects, molecular genetics may also guide pharmacological therapy by identifying the specific ion-channel disorder leading to QT-prolongation and sudden death. 相似文献
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Y Süo?lu B Erdamar I C?lhan OS Katircio?lu U Cevikbas 《Canadian Metallurgical Quarterly》1998,112(6):588-591
The presentation of tuberculosis as an isolated parotid lump is rare. In this paper, six cases with tuberculous parotitis are reported which were evaluated as a benign parotid neoplasm in 216 specimens pre-operatively. All but one of them had no previous history of tuberculosis and all had a parotid lump as a sole symptom for at least one year. The diagnosis of tuberculosis was made, after superficial parotidectomy, by histopathology. Parenchymal involvement and intraparotid lymph node involvement with tuberculosis were seen in five and three patients, respectively. Two of the patients had lymph node involvement outside the parotid area. One of six patients had a coincidental Warthin tumour. A surgical approach is not only therapeutic but also diagnostic when other diagnostic tools fail. 相似文献
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Tumors of the parotid are the most frequently encountered salivary gland tumors. Knowledge of the histology and anatomy of the salivary gland is important when considering the histiogenesis of salivary gland tumors, requiring close cooperation between the pathologist and the surgeon. Most tumors are benign epithelial formations. Pleomorphous adenomas predominate. Superficial lobectomy is adequate treatment. When the tumor involves a deep lobe, total parotidectomy is indicated. Treatment of malignant tumors depends on the histology, its TNM stage and other factors. Total parotidectomy with lymphadectomy and radiotherapy are needed in case of high grade malignancy. In children, vascular neoplasias are the most frequent, followed by malignant tumors. Their histological features and treatment are the same as for adults. 相似文献
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Hibernoma is a benign tumour, arising from vestigial remnants of brown adipose cells, which have persisted from embryonic life. Although it is a well recognized entity, it is an extremely rare tumour. Recent reports estimate 81 cases in the world literature, only seven being in the neck. To our knowledge, it has never been reported in the parotid region. We report such a case and discuss the historical background of a hibernoma, along with its pathological and clinical behaviour. 相似文献
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We sought to determine if patients with cystic fibrosis and sputum cultures positive for Mycobacterium avium complex (MAC) have delayed-type hypersensitivity to an M. avium sensitin. Seventeen (33%) of 51 selected patients had MAC isolated from at least one sputum culture. Skin tests with purified protein derivative and M. avium sensitin demonstrated that five (10%) of 51 patients were anergic, and anergy was correlated with use of systemic steroids. Sixteen (35%) of 46 nonanergic patients had M. avium-dominant skin test reactions. Twelve (75%) of these 16 patients with cultures positive for MAC had M. avium-dominant skin tests; the specificity of skin testing was 87%. These data suggest that most patients with cystic fibrosis and sputum cultures positive for MAC have infection rather than colonization with MAC. Skin testing with M. avium sensitin is a sensitive and specific method for screening these infections. 相似文献
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The records of 27 patients operated for parotid tumors were reviewed retrospectively. Pleomorphic adenoma was the most frequent tumor (37.1%) and required subtotal parotidectomy in all cases. Twenty percent presented permanent facial paralysis of the marginal mandibular branch. No recurrence has been observed in five years of follow-up. Warthin's tumor, found in 11.1% of patients, was removed by either superficial or subtotal parotidectomy. Parotidean cysts were observed in 7.4% and were excised by superficial parotidectomy. The malignant tumors included squamous cell carcinoma (22.2%), adenoid cystic carcinoma (14.8%), melanoma (3.7%), and renal-cell metastasis (3.7%). All were treated by total parotidectomy with conservation of the facial nerve in 67%. Twenty-five percent had postoperative facial paralysis and 33% developed Frey's syndrome. Thirty-three percent died in the next 5 years from locoregional metastases. 相似文献
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OR Tumilasci MC Arqueros MA Ostuni E el Tamer AB Houssay 《Canadian Metallurgical Quarterly》1996,19(7):412-414
Parotid saliva was collected with a Carlson-Crittenden device, under citric acid stimulation, in 18 patients with autoimmune thyroid disease. Thyrotropin Receptor Antibodies (TRAb) were measured with a radioreceptor assay in parotid saliva and in serum in the same patients, and a statistical analysis of the data was performed. TRAb levels in parotid saliva were higher than in serum in the 3 pathologies studied (Graves' disease, Hashitoxicosis and Hashimoto's thyroiditis). There was good correlation between salivary and serum levels. 相似文献
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We present a rare case of a giant intra-parotid calculus in a 64-year-old man with recurrent parotitis. The literature is also reviewed. 相似文献
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Wegener's granuloma is a systemic necrotizing vasculitis which predominantly affects the upper and lower respiratory tracts and kidneys. The nose and paranasal sinuses are often the first or main sites to be affected. Equally ear involvement is common and a recognized early manifestation of the disease. Salivary gland involvement is rare and is usually part of more widespread systemic involvement. We present a 34-year-old female with a six-week history of hearing loss and a unilateral parotid swelling. One year previously she was diagnosed as having myalgic encephalomyelitis following a long period of post-viral malaise. The case points to the difficulties encountered when Wegener's granuloma presents in an unusual and varied way. A high index of suspicion coupled with early diagnosis and treatment is essential. The patient made a good recovery. 相似文献
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Over a period of two years, Fine Needle Aspiration Cytology (FNAC) was performed on 33 patients presenting with a parotid lump. Five patients were excluded as they were treated medically after FNAC report. The FNAC results of 28 cases were compared with histopathological diagnoses of surgically resected specimens. There were 8 true positive, 17 true negative, 1 false positive and 2 false negative cases. Sensitivity was 80%, specificity 94.4% and diagnostic accuracy 89.3%. FNAC is a simple quick, accurate and virtually complications free investigative modality. It is also helpful adjunct to assess preoperatively the suitability and extent of the surgical treatment. 相似文献
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AR Kagan H Nussbaum S Handler R Shapiro HA Gilbert M Jacobs JW Miles PY Chan T Calcaterra 《Canadian Metallurgical Quarterly》1976,37(6):2600-2604
The clinical course of 130 patients treated for malignant parotid tumors at the three institutions have been reviewed. Fifty-six of these 130 patients developed recurrences following their primary treatment by a surgical procedure. There were a total of 109 recurrences among these 56 patients. The average number of recurrences was two per patient. The average survival from first recurrence was 3.7 years, with the median survival 2 years. The range of survival was 0.5 to 17 years. Once recurrence developed, treatment was by surgery, radiation therapy, chemotherapy, or a combination. Of 56 patients with recurrence, 33 are dead and 9 patients are alive with disease. Fourteen patients are alive and well with no evidence of disease. These NED patients had an average number of 1.6 recurrences and a median survival to date of only 3 years. Our study indicates that for the majority of patients who develop recurrence, survival is relatively short and treatment is usually ineffective in three of four patients. The authors conclude that after a surgical procedure for malignant salivary gland tumors, a trial of wide field postoperative radiation therapy to high dose should be considered as part of the initial treatment. 相似文献
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BACKGROUND: The relationship between severe reactive airway disease (RAD) and gastroesophageal reflux disease (GERD) has been noted but the relationship is poorly understood. This study reports our experience with laparoscopic fundoplication and its effect on the pulmonary status of children with severe steroid-dependent reactive airway disease. METHODS: Fifty-six patients with severe steroid-dependent RAD and medically refractory GERD underwent laparoscopic Nissen fundoplications. Mean age was 7 years and mean weight was 20 kg. All patients had the procedure completed successfully laparoscopically with an average operative time of 62 min. Average hospital stay was 1.6 days. RESULTS: Forty-eight of 56 patients noted significant improvement in their respiratory symptoms in the first week. Fifty of 56 patients have been weaned off their oral steroids and four others have had a greater than 50% decrease in their dose. Sixteen patients had a documented increase in their FEV1 in the initial postoperative period (avg. 26%). CONCLUSION: Patients with steroid-dependent RAD and GERD refractory to medical management show improvement in their respiratory status following fundoplication and the majority can be weaned off of their oral steroids. Laparoscopic techniques allow this procedure to be performed safely even in this high-risk group of patients. 相似文献