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71.
72.
Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation 总被引:5,自引:2,他引:5
Scott RJ; Froggatt NJ; Trembath RC; Evans DG; Hodgson SV; Maher ER 《Human molecular genetics》1996,5(12):1921-1924
Desmoid tumours are generally very rare but occur about 100 times more
frequently in the colorectal cancer predisposition syndrome familial
adenomatous polyposis (MIM 175100), being represented in about 10% of
patients. In addition to desmoid disease occurring in familial adenomatous
polyposis (FAP) there exist familial infiltrative fibromatosis (MIM 135290)
kindreds where there is no evidence of FAP. Previously we have described a
kindred with familial infiltrative fibromatosis (FIF) in which desmoid
tumours were associated with nonpolyposis colorectal cancer. FAP is caused
by mutations in the APC gene and various genotype-phenotype relationships
have been defined including reports that colorectal polyposis is less
severe with mutations 5' to codon 157 and that the risk of desmoid tumours
is high in FAP patients with APC gene mutations between codons 1444 and
1598. There is relatively little information on the phenotype of APC gene
mutations 3' to codon 1598; however, one large family has been reported
with a mutation at codon 1987 which presents with a highly variable
phenotype which includes desmoid disease. We screened our original FIF
kindred and three further families with a similar phenotype for mutations
in the APC gene. A 4 bp frameshift deletion in codon 1962 was identified in
the original FIF kindred and two further apparently unrelated families.
Haplotype analysis suggests a common origin for the APC mutation in all
three families. Affected individuals had no evidence of congenital
hypertrophy of the retinal pigment epithelium. Colorectal polyposis was
variable, and most affected patients had either none or a few late onset
polyps. These findings demonstrate (i) that FAP and FIF are allelic, and
(ii) that APC gene mutations which truncate the APC protein distal to the
beta-catenin binding domain are associated with desmoid tumours, absent
CHRPE and variable but attenuated polyposis expression.
相似文献
73.
Rajesh Kumar Hemant Gupta Anil Jadhav SV Khadilkar 《Indian journal of dermatology》2013,58(4):328-Aug;58(4):328
A 74-year-old man was presented with fever, bilateral throbbing temporoparietal headache, jaw claudication, and bilateral loss of vision. On examination, he had bilateral scalp necrosis with impending necrosis of lip and tongue. Temporal artery biopsy was done, and it was compatible with active temporal arteritis. This is one of the rare presentations of giant cell arteritis where there is simultaneous necrosis of scalp, lip, and tongue, and to the best of our knowledge, it is the first case reported from India. 相似文献
74.
Spitsin S Portocarrero C Phares TW Kean RB Brimer CM Koprowski H Hooper DC 《Journal of neuroimmunology》2008,196(1-2):8-15
The blood-brain barrier (BBB) is dramatically but transiently compromised in the cerebella of myelin basic protein immunized mice at least 1 week prior to the development of the paralytic phase of experimental allergic encephalomyelitis (EAE). Treatment of mice with the peroxynitrite-dependent radical scavenger uric acid (UA) during the first week after immunization blocks the early increase in cerebellar BBB permeability and the subsequent development of clinical signs of EAE. These results indicate that the early loss of BBB integrity in the cerebellum is likely to be a necessary step in the development of paralytic EAE. 相似文献
75.
de Matos GF Stanzani F Passos RH Fontana MF Albaladejo R Caserta RE Santos DC Borges JB Amato MB Barbas CS 《Critical care (London, England)》2012,16(1):R4
Introduction
The benefits of higher positive end expiratory pressure (PEEP) in patients with acute respiratory distress syndrome (ARDS) have been modest, but few studies have fully tested the "open-lung hypothesis". This hypothesis states that most of the collapsed lung tissue observed in ARDS can be reversed at an acceptable clinical cost, potentially resulting in better lung protection, but requiring more intensive maneuvers. The short-/middle-term efficacy of a maximum recruitment strategy (MRS) was recently described in a small physiological study. The present study extends those results, describing a case-series of non-selected patients with early, severe ARDS submitted to MRS and followed until hospital discharge or death. 相似文献76.
Uric acid, a natural scavenger of peroxynitrite, in experimental allergic encephalomyelitis and multiple sclerosis 下载免费PDF全文
D. C. Hooper S. Spitsin R. B. Kean J. M. Champion G. M. Dickson I. Chaudhry H. Koprowski 《Proceedings of the National Academy of Sciences of the United States of America》1998,95(2):675-680
Uric acid, the naturally occurring product of purine metabolism, is a strong peroxynitrite scavenger, as demonstrated by the capacity to bind peroxynitrite but not nitric oxide (NO) produced by lipopolysaccharide-stimulated cells of a mouse monocyte line. In this study, we used uric acid to treat experimental allergic encephalomyelitis (EAE) in the PLSJL strain of mice, which develop a chronic form of the disease with remissions and exacerbations. Uric acid administration was found to have strong therapeutic effects in a dose-dependent fashion. A regimen of four daily doses of 500 mg/kg uric acid was required to promote long-term survival regardless of whether treatment was initiated before or after the clinical symptoms of EAE had appeared. The requirement for multiple doses is likely to be caused by the rapid clearance of uric acid in mice which, unlike humans, metabolize uric acid a step further to allantoin. Uric acid treatment also was found to diminish clinical signs of a disease resembling EAE in interferon-γ receptor knockout mice. A possible association between multiple sclerosis (MS), the disease on which EAE is modeled, and uric acid is supported by the finding that patients with MS have significantly lower levels of serum uric acid than controls. In addition, statistical evaluation of more than 20 million patient records for the incidence of MS and gout (hyperuricemic) revealed that the two diseases are almost mutually exclusive, raising the possibility that hyperuricemia may protect against MS. 相似文献
77.
SV Lourenço TP Hussein SB Bologna AM Sipahi MMS Nico 《Journal of the European Academy of Dermatology and Venereology》2010,24(2):204-207
Inflammatory bowel disease (IBD) comprises two chronic, tissue‐destructive, clinical entities: Crohn's disease (CD) and ulcerative colitis (UC), both immunologically based. Bowel symptoms are predominant, but extra‐intestinal complications may occur, including involvement of the oral cavity. Oral involvement during IBD includes several types of lesions: the most common are aphthae; uncommon lesions include, among others, pyostomatitis vegetans and granulomatous lesions of CD. Starting with a presentation of six patients with oral manifestations, which were crucial for the final diagnosis of IBD, a review on the subject is presented. Oral involvement in IBD may be previous or simultaneous to the gastrointestinal symptoms. However, in the majority of cases, bowel disease precedes the onset of oral lesions by months or years. In many patients, the intestinal symptoms may be minimal and can go undetected; thus, most authors believe that the bowel must be thoroughly examined in all patients with suspected IBD even in the absence of specific symptoms. Usually, the clinical course of oral lesions is parallel to the activity of IBD; therefore, oral manifestations are a good cutaneous marker of IBD. 相似文献
78.
Inactivation of peroxynitrite in multiple sclerosis patients after oral administration of inosine may suggest possible approaches to therapy of the disease. 总被引:11,自引:0,他引:11
S Spitsin D C Hooper T Leist L J Streletz T Mikheeva H Koprowskil 《Multiple sclerosis (Houndmills, Basingstoke, England)》2001,7(5):313-319
Peroxynitrite has been implicated in the pathogenesis of multiple sclerosis (MS) and its animal model experimental allergic encephalomyelitis (EAE). Previously, we have shown that administration of uric acid (UA), a peroxynitrite scavenger, is therapeutic in EAE We have also shown that MS patients have lower levels of serum uric acid than healthy individuals or those with other neurological diseases. The aim of this investigation was therefore to raise serum UA levels in MS patients. Oral administration of UA failed to increase low serum UA levels, evidently due to its degradation by gastrointestinal bacteria. However, serum UA could be raised and maintained at elevated levels for a year and more without reported side-effects by oral administration of its precursor inosine. Three of 11 patients given inosine showed some evidence of clinical improvement and there was no sign of disease progression in the remaining patients. Gadolinium-enhanced lesions, observed in two patients before receiving inosine, could not be detected after either 10 or IS months inosine treatment These data provide evidence that serum UA levels can be readily manipulated and that the benefit of higher levels to individuals with MS should be studied further in greater number of patients. 相似文献
79.
80.
Recent updates on electronic cigarette aerosol and inhaled nicotine effects on periodontal and pulmonary tissues 下载免费PDF全文
E‐cigarette‐derived inhaled nicotine may contribute to the pathogenesis of periodontal and pulmonary diseases in particular via lung inflammation, injurious, and dysregulated repair responses. Nicotine is shown to have antiproliferative properties and affects fibroblasts in vitro, which may interfere in tissue myofibroblast differentiation in e‐cig users. This will affect the ability to heal wounds by decreasing wound contraction. In periodontics, direct exposure to e‐vapor has been shown to produce harmful effects in periodontal ligament and gingival fibroblasts in culture. This is due to the generation of reactive oxygen species/aldehydes/carbonyls from e‐cig aerosol, leading to protein carbonylation of extracellular matrix and DNA adducts/damage. A limited number of studies regarding the effects of e‐cig in oral and lung health are available. However, no reports are available to directly link the deleterious effects on e‐cigs, inhaled nicotine, and flavorings aerosol on periodontal and pulmonary health in particular to identify the risk of oral diseases by e‐cigarettes and nicotine aerosols. This mini‐review summarizes the recent perspectives on e‐cigarettes including inhaled nicotine effects on several pathophysiological events, such as oxidative stress, DNA damage, innate host response, inflammation, cellular senescence, profibrogenic and dysregulated repair, leading to lung remodeling, oral submucous fibrosis, and periodontal diseases. 相似文献