Over 100 mutations in the presenilin‐1 gene (PSEN1) have been shown to result in familial early onset Alzheimer disease (EOAD), but only a relatively few give rise to plaques with an appearance like cotton wool (CWP) and/or spastic paraparesis (SP). A family with EOAD, seizures and CWP was investigated by neuropathological study and DNA sequencing of the PSEN1 gene. Aβ was identified in leptomeningeal vessels and in cerebral plaques. A single point mutation, p.L420R (g.1508T > G) that gives rise to a missense mutation in the eighth transmembrane (TM8) domain of PS1 was identified in two affected members of the family. p.L420R (g.1508T > G) is the mutation responsible for EOAD, seizures and CWP without SP in this family. 相似文献
BACKGROUND: The incidence of malignant melanoma of the skin has risen in every part of the world where reliable cancer registration data are found. OBJECTIVE: Our study aims to describe the changing incidence of and survival from invasive cutaneous malignant melanoma in Malta, by analysing the data from the 211 cases that were registered at the Malta National Cancer Registry between 1993 and 2002. RESULTS: The age standardized incidence rates for invasive cutaneous malignant melanoma rose from 3.7 per 100,000 population per year for males and 5.1 for females in the first 5-year period, to 8.0 per 100,000 population per year for males and 5.9 for females in the second 5-year period. In both sexes, numbers of thin (< or = 1.0 mm) invasive melanomas increased significantly between 1993 and 2002; males also registered a significant increase in intermediate-thickness (1.01-4.0 mm) melanomas. The increase in numbers of thin and intermediate-thickness melanomas between the two 5-year periods was greatest in patients aged 60 years and over. The overall absolute 5-year survival rate for the first period was 74% and for the second period 92%. CONCLUSION: Numbers of reported cases of invasive cutaneous malignant melanoma in Malta have more than doubled during the 10-year study period. This is mostly due to a marked rise in the diagnosis of thin melanomas in both sexes, occurring mainly in patients aged 60 years and over. As thin melanomas are of low metastasizing potential, this has resulted in an increase in survival between the two 5-year study periods. 相似文献
BACKGROUND AND OBJECTIVES: In 1999, our institution began a kidney transplant program with collaboration between the departments of General Surgery/Transplantation and Urology. From the onset, donor nephrectomies were performed laparoscopically and are currently the domain of Urology, which had no prior laparoscopic experience before this undertaking. We reviewed our experience. METHODS: A database of our experience was kept prospectively from June 1999 to November 2004. Records of both donors and recipients were reviewed. Special attention was directed toward our changes in technique and their relationship to outcomes, with emphasis on graft extraction and overall complication rates. RESULTS: We reviewed the records of 205 consecutive procedures. We report excellent donor outcomes, including mean operative time (112 minutes), estimated blood loss (120 mL), and length of stay (2.3 days). Complication (14.1%) and open conversion (1.5%) rates were low. For the recipients, early (98.0%) and 1-year (94.7%) graft survival, and ureteral ischemia (2.4%) rates were also appropriate with contemporary experience. CONCLUSIONS: We report our results on laparoscopic donor nephrectomy in a de novo renal transplant program. Because of this experience, we have ventured into other horizons of urologic laparoscopy and currently produce enough volume to support a laparoscopic fellowship. We feel that a productive donor nephrectomy program can enhance urologic laparoscopic programs and should be taken advantage of when available. 相似文献
Vacuum-assisted closure (VAC), although a modern adjunct in wound management, has not been used previously in pyoderma gangrenosum (PG), probably to avoid the potential complications of ‘pathergy’. We would like to report our experience of VAC in three cases of PG with the relevant review of literature. 相似文献
Background: Previous studies have shown that propofol and sevoflurane enhance the function of [gamma]-aminobutyric acid type A (GABAA) receptors. However, it is not known whether these two drugs modulate the same molecular pathways. In addition, little is known about receptor function in the presence of both propofol and sevoflurane. The aim of this study was to better understand the interactions of propofol and sevoflurane with the GABAA receptor.
Methods: Wild-type [alpha]1, [beta]2, [gamma]2s GABAA receptor subunit complementary DNAs were transfected into human embryonic kidney cells grown on glass coverslips using a calcium phosphate transfection method. After transfection (36-72 h), cells were whole cell patch clamped and exposed to combinations of the following: 0.3-1,000 [mu]m [gamma]-aminobutyric acid (GABA), 0-10 [mu]m propofol, and 0-1,650 [mu]m sevoflurane. Chemicals were delivered to the cells using two 10-channel infusion pumps and a rapid solution exchanger.
Results: Both propofol and sevoflurane alone enhanced the amplitude of GABAA receptor responses to submaximal concentrations of GABA in a dose-dependent manner. The enhancement was underpinned by an increase in the apparent affinity of the receptor for GABA. Coapplication of both anesthetics further enhanced the apparent affinity of the receptor for GABA. 相似文献
Herniography has been used for 25 years in the diagnosis of occult herniation but has not gained widespread acceptance in
the UK, despite studies confirming its high sensitivity and specificity for occult hernias and an excellent record of safety
and patient acceptability. The traditional approach in the UK to suspected occult groin herniation has been surgical exploration.
This study examined the use of herniography in a single district general hospital to assess its impact in limiting unnecessary
groin explorations and allowing discharge of patients without hernias. The case notes of 90 successive patients referred for
herniography by the department of general surgery in a single UK district general hospital over an 18-month period were reviewed.
Eighty-seven completed examinations were analysed in which 23 hernias were diagnosed in 20 patients. Thirteen patients have
undergone hernia repair with resolution of symptoms. There were no false positive examinations, although two inguinal hernias
were incorrectly diagnosed radiologically as femoral hernias; there were two false negative examinations where additional
hernias were found at laparoscopic repair. There were no reported complications. Twenty-four patients were discharged directly
from the surgical clinic after a negative herniogram. Thirty patients were referred to other specialities. No patient had
undergone groin exploration after a negative herniogram. Herniography is a useful tool in assessing obscure groin pain and
potential occult herniation. It can reliably rule out the presence of a hernia and avoid the need for surgical exploration.
Many patients with a negative herniogram can be reassured and discharged, whilst others may be referred on to other specialities
safe in the knowledge that an occult hernia has been excluded. 相似文献
Severe adverse effects during the use of ovulation inhibitors occur mostly in women who have an elevated risk for the development of certain diseases owing to hereditary or acquired factors. By means of a careful personal or family history analysis as well as specific laboratory examinations, an existing predisposition may frequently be diagnosed and the individual risk associated with the use of oral contraceptive inhibitors may be estimated. The present contribution describes the potential effects of treatment with ovulation inhibitors on women with thrombophilia, cardiovascular disease, diabetes mellitus, dyslipidemia, overweight or underweight, tumors, psychiatric and neurological diseases and autoimmune disease. The hormonal methods and non-hormonal alternatives available for contraception are elucidated according to existing lesions and risk factors and the advantages and disadvantages are discussed. 相似文献
AIMS: To report clinical outcomes of a large series of cases with advanced thyroid cancer. STUDY DESIGN: Three hundred and eighty-five patients at the UICC stages III and IV were selected for the study with thyroid cancer. RESULTS: Papillary carcinoma and sclerosing carcinoma have better survival than the Hürthle cell and insular types. Lymphatic metastasis does not appear to worsen the prognosis. All the tumour forms offer the chance of long survival. CONCLUSIONS: Surgical treatment is the primary treatment of thyroid carcinoma. The combined treatments of surgery, metabolic beam therapy, suppressive hormone therapy, radiotherapy and chemotherapy cure a high percentage of patients with the tumour at an advanced stage. 相似文献