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371.
372.
Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia 总被引:3,自引:0,他引:3
Kile BT Panopoulos AD Stirzaker RA Hacking DF Tahtamouni LH Willson TA Mielke LA Henley KJ Zhang JG Wicks IP Stevenson WS Nurden P Watowich SS Justice MJ 《Blood》2007,110(7):2371-2380
A pivotal mediator of actin dynamics is the protein cofilin, which promotes filament severing and depolymerization, facilitating the breakdown of existing filaments, and the enhancement of filament growth from newly created barbed ends. It does so in concert with actin interacting protein 1 (Aip1), which serves to accelerate cofilin's activity. While progress has been made in understanding its biochemical functions, the physiologic processes the cofilin/Aip1 complex regulates, particularly in higher organisms, are yet to be determined. We have generated an allelic series for WD40 repeat protein 1 (Wdr1), the mammalian homolog of Aip1, and report that reductions in Wdr1 function produce a dramatic phenotype gradient. While severe loss of function at the Wdr1 locus causes embryonic lethality, macrothrombocytopenia and autoinflammatory disease develop in mice carrying hypomorphic alleles. Macrothrombocytopenia is the result of megakaryocyte maturation defects, which lead to a failure of normal platelet shedding. Autoinflammatory disease, which is bone marrow-derived yet nonlymphoid in origin, is characterized by a massive infiltration of neutrophils into inflammatory lesions. Cytoskeletal responses are impaired in Wdr1 mutant neutrophils. These studies establish an essential requirement for Wdr1 in megakaryocytes and neutrophils, indicating that cofilin-mediated actin dynamics are critically important to the development and function of both cell types. 相似文献
373.
Khaldi L Apostolidis TCh Pappa DA Apostolidis MT Apostolidis TI 《Annals of diagnostic pathology》2006,10(5):297-300
Basaloid squamous carcinoma is a rare variant of squamous cell carcinoma. It is frequently diagnosed at an advanced stage with metastases. Histologically, it is identical to basaloid carcinoma at other anatomical sites. Some authors suggest that it may be associated with second primary tumors. Others implicate the Epstein-Barr and human papilloma viruses. All reports but one warn of its aggressive biological behavior. Our case concerns a 52-year-old man who had a small lesion in his right cord. Biopsy of the lesion was performed twice, and conventional squamous cell carcinoma was diagnosed; the patient returned 2 months later with progressed metastatic disease. The patient underwent a laryngectomy and a complete clinical and immunohistochemical investigation. Basaloid squamous carcinoma is a totipotential neoplasm with a grave prognosis. It can be misdiagnosed; therefore, the authors would like to emphasize the significance of this condition in comparison to conventional squamous cell carcinoma, and we provide a review of the relevant recent literature. 相似文献
374.
Lubna Pal Neiha Kidwai Jehanzeb Kayani William B. Grant 《Journal of assisted reproduction and genetics》2014,31(11):1453-1460
PurposeEnvironmental influences on reproductive success are recognized. We hypothesized that location of fertility clinics may influence treatment success and explored this hypothesis utilizing donor egg IVF (IVF) embryo transfer (ET) model.MethodsPublicly accessible national registry data (Society for Assisted Reproductive Technology) on fresh & frozen (FET) ET cycles undertaken at participating clinics across North America (n = 444 IVF centers) for 2007 were utilized. Information on number of donor egg IVF cycles, live birth (LB) rate following fresh and frozen ET(FET), average number (#) of ET and IVF center''s location, geographical coordinates (latitude, longitude, altitude), annualized average temperatures and midyear regional ultraviolet B (UVB) radiation intensity were obtained. Multivariable logistic regression analyses assessed relationship between LBR (in tertile and uppermost versus lesser quartiles) following fresh and FET with geographical coordinates (region and altitude of clinic location) and ecological influences (average temperature and midyear UVB intensity), adjusting for #ET and clinic experience with donor egg IVF.ResultsAverage number of fresh ET, clinic location (region) and midyear UVB intensity were positive predictors of LBR following fresh ET, whereas altitude and annualized average regional temperature demonstrated an inverse relationship with LBR following fresh ET. For FET cycles, #ET, clinic region and altitude were positive determinants of increasing LBR’s. Annualized regional temperature and midyear UVB failed to demonstrate any relationship with LB following donor egg FET.ConclusionOur data suggest that ecological influences may relate to donor egg IVF cycle success. Future studies are needed to better elucidate the mechanisms that could explain the observed associations.
Electronic supplementary material
The online version of this article (doi:10.1007/s10815-014-0322-0) contains supplementary material, which is available to authorized users. 相似文献375.
Taylor McClellan Brian C. Allen Matthew Kappus Lubna Bhatti Randa A. Dafalla Laurie D. Snyder Mustafa R. Bashir 《Current problems in diagnostic radiology》2017,46(4):300-304
Purpose
To determine interreader and intrareader repeatability and correlations among measurements of computerized tomography–based anthropomorphic measurements in patients with pulmonary fibrosis undergoing lung transplantation.Methods
This was an institutional review board–approved, Health Insurance Portability and Accountability Act–compliant retrospective study of 23 randomly selected subjects (19 male and 4 female; median age = 69 years; range: 66-77 years) with idiopathic pulmonary fibrosis undergoing pulmonary transplantation, who had also undergone preoperative thoracoabdominal computerized tomography. Five readers of varying imaging experience independently performed the following cross-sectional area measurements at the inferior endplate of the L3 vertebral body: right and left psoas muscles, right and left paraspinal muscles, total abdominal musculature, and visceral and subcutaneous fat. The following measurements were obtained at the inferior endplate of T6: right and left paraspinal muscles with and without including the trapezius muscles and subcutaneous fat. Three readers repeated all measurements to assess intrareader repeatability.Results
Intrareader repeatability was nearly perfect (interclass correlation coefficients = 0.99, P < 0.001). Interreader agreement was excellent across all 5 readers (interclass correlation coefficients: 0.71-0.99, P < 0.001). Coefficients of variance between measures ranged from 3.2%-6.8% for abdominal measurements, but were higher for thoracic measurements, up to 23.9%. Correlation between total paraspinal and total psoas muscle area was strong (r2 = 0.67, P < 0.001). Thoracic and abdominal musculature had a weaker correlation (r2 = 0.35-0.38, P < 0.001).Conclusion
Measures of thoracic and abdominal muscle and fat area are highly repeatable in patients with pulmonary fibrosis undergoing lung transplantation. Measures of muscle area are strongly correlated among abdominal locations, but inversely correlated between abdominal and thoracic locations. 相似文献376.
OBJECTIVE: To assess the safety and outcome of paediatric percutaneous nephrolithotomy (PCNL) for atypical cases and compare the results with 'standard' unilateral paediatric PCNL. PATIENTS AND METHODS: We retrospectively reviewed children who had had a PCNL between December 1997 and December 2004. Patients were grouped as follows: group 1, aged >5-16 years with normal anatomy and normal renal function undergoing unilateral PCNL or staged bilateral PCNL; group 2, < or = 5 years with normal anatomy and renal function undergoing unilateral PCNL; group 3, undergoing bilateral simultaneous PCNL; group 4, impaired renal function in addition to renal stone disease; group 5, renal anatomical abnormality with calculi in the same kidney. Demographics, stone profile, procedure and outcome indicators were analysed for each group. RESULTS: In all, 188 consecutive PCNLs in 169 children were included (mean age 3.3-10.3 years, mean stone burden 19.1-33.3 mm in the five groups). The mean duration of PCNL was 69-115 min. Stone clearance was satisfactory with single tract access in 90-100% of patients. Transient postoperative fever was the commonest complication (12.5-51%) followed by hyponatraemia and hypokalaemia. Blood transfusion was required in 0-7.7%. The mean stone clearance rates were 47-90% in the five groups; additional extracorporeal shockwave lithotripsy increased the cumulative clearance rates to 90-100%. CONCLUSION: PCNL is safe for treating renal stones, with excellent results and minimal complications. Comparable results are achieved in the very young child, children with anatomically abnormal kidneys, children with impaired renal function and children with bilateral renal stones undergoing simultaneous bilateral PCNL. Hence none of these factors should be considered as relative contraindications. 相似文献
377.
Anand A Bukhari L Jennings SA Lee C Kamat M Shekhar A Nurnberger JI Lightfoot J 《The Journal of clinical psychiatry》2005,66(2):195-198
OBJECTIVE: The purpose of this study was to investigate the effectiveness of zonisamide in the treatment of bipolar depression. METHOD: Ten patients with DSM-IV bipolar disorder, depressed phase, who had either not tolerated or not responded to previous treatments were given zonisamide in this add-on open-label study. Zonisamide treatment was started at 100 mg/day and increased by 100 mg every 2 weeks to a maximum of 300 mg/day in divided doses (b.i.d. or t.i.d.). Subjects underwent weekly visits at which they were administered the 17-item Hamilton Rating Scale for Depression (HAM-D), Young Mania Rating Scale (YMRS), and Clinical Global Impressions scale (CGI). Every 2 weeks, subjects also underwent laboratory tests, a urine examination, and a verbal memory test. Outcome measures were analyzed with repeated-measures analysis of variance. RESULTS: Eight subjects completed all 8 weeks of the study. Two subjects completed more than 4 weeks of the study, and their data were analyzed using the last observation carried forward. Bipolar depression subjects had a significant reduction in HAM-D scores (p < .001) and in CGI-Improvement (CGI-I) scores (p < .001). Five of 8 subjects who completed all 8 weeks of the study had more than a 50% decrease in HAM-D scores and were rated much improved on the CGI-I at the end of 8 weeks of treatment. There was no significant drug effect on YMRS scores, weight, or verbal memory. CONCLUSION: Zonisamide may be a useful drug in the treatment of bipolar depression. Further controlled clinical trials are needed. 相似文献
378.
379.
Omental trophoblastic implants and hemoperitoneum after laparoscopic salpingostomy for ectopic pregnancy. A case report 总被引:1,自引:0,他引:1
BACKGROUND: In this era of cost containment, laparoscopic management of ectopic pregnancy has become the mainstay of dealing with this common gynecologic emergency. The aim of surgical intervention remains conservation of the fallopian tube, if possible; salpingectomy is reserved for cases of tubal rupture and/or recurrent ectopic pregnancy, where little hope exists of salvaging tubal function. CASE: A 28-year-old woman, para 2, underwent laparoscopic salpingostomy for ectopic pregnancy. She experienced intraabdominal bleeding within the initial 12 hours of the postoperative period. On exploratory laparotomy, there was active bleeding from the site of the salpingostomy, and a salpingectomy was performed. The patient was lost to follow-up and on postoperative day 21 presented with signs of intraabdominal bleeding; repeat laparotomy revealed active bleeding from trophoblastic implants within the greater omentum. The omentum was adherent to the anterior abdominal wall at the site of umbilical trocar placement. An infracolic omentectomy was performed, with a subsequent uneventful postoperative course; the patient was followed until resolution of the serum beta-hCG. CONCLUSION: Postoperative surveillance is important. Positive intraabdominal pressure during laparoscopic surgery and the Trendelenburg position may be contributory to cephalad migration of trophoblast remnants, with the scavenging action of the omentum and adherence to the site of umbilical trocar placement theoretically providing a mechanism for neovascularization and sustenance of the parasitic trophoblast. 相似文献
380.
Chhabra S Kunimoto DY Kazi L Regillo CD Ho AC Belmont J Maguire J Vander J Brown GC 《American journal of ophthalmology》2006,142(5):852-854
PURPOSE: To present the microbiologic spectrum and susceptibilities of isolates in posttraumatic endophthalmitis, and to provide a review of the literature. DESIGN: Retrospective consecutive case series. METHODS: A review of 1182 consecutive open globe injuries was performed, identifying 10 patients with culture-proven endophthalmitis. RESULTS: Thirteen organisms were isolated from 10 eyes with posttraumatic endophthalmitis. Isolated organisms included Streptococcus species (46.2%), coagulase-negative Staphylococcus (23.1%), and Bacillus cereus (15.4%). All organisms tested were susceptible to vancomycin and tobramycin. The most commonly isolated organisms from an aggregate posttraumatic endophthalmitis pool of 372 cases obtained by literature-based meta-analysis were coagulase-negative Staphylococcus (21.5%) and Bacillus cereus (18.5%). CONCLUSION: We report a high prevalence of gram-positive pathogens and a notable prevalence of Bacillus cereus in posttraumatic endophthalmitis. Susceptibility results suggest that posttraumatic endophthalmitis isolates are generally susceptible to vancomycin and tobramycin. 相似文献