Singling out FLI1 in Paris-Trousseau syndrome.
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SUBMITTER: Falet H
PROVIDER: S-EPMC5492094 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
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Project description:BackgroundTrousseau syndrome (TS) refers to spontaneous, recurrent, and wandering arterial and venous thromboembolic events in patients with tumors. It results from abnormalities in coagulation and fibrinolytic mechanisms of varying degrees throughout the course of the disease. It has a high fatality rate, and it is commonly seen in patients with highly invasive tumors, such as lung, pancreatic, gastrointestinal, and breast cancers; however, to date, there has been no report of TS combined with chordoma.Case descriptionA 56-year-old male with a diagnosis of chordoma underwent surgery, immunotherapy, immunotherapy combined with antiangiogenic therapy, chemotherapy combined with immunotherapy, and proton therapy for localized metastases. Subsequent to the worsening of chest tightness, a repeat chest computed tomography angiography (CTA) scan suggested pulmonary artery embolisms; eventually, a diagnosis of TS was made. After anticoagulation and synchronized antitumor therapy, the patient's condition remained recurrent, eventually leading to death.ConclusionsTS is a frequent but easily overlooked clinical complication that can occur in a variety of tumors, including chordoma, and is currently diagnosed clinically. Thus, further exploration of its sensitive markers is needed. We have reported a case of chordoma combined with TS and conducted a literature review on TS to increase clinicians' awareness of tumor-related thromboembolism and explore strategies to optimize the diagnosis, treatment, and prevention of TS.
| S-EPMC11494589 | biostudies-literature
Project description: Not available
| S-EPMC3091937 | biostudies-literature
Project description: Not available
| S-EPMC6119149 | biostudies-literature
Project description:BackgroundTrousseau syndrome (TS) is a thromboembolic event in cancer patients caused by abnormalities in coagulation and fibrinolytic mechanisms. Acute multiple cerebral infarction (AMCI) is a rare form of TS. This study aimed to discuss the differentiation of clinical and radiographic characteristics between TS and cardiogenic embolism (CE) with AMCI as the main manifestation.MethodsWe retrospectively analyzed 69 patients with TS-AMCI and 105 patients with CE-AMCI who were treated at Shandong Provincial Hospital between August 2018 and October 2022. The clinical baseline data, laboratory indices, and imaging characteristics of the two groups were compared. A logistic regression was used to analyze the risk factors of TS-AMCI, and receiver operating characteristic (ROC) curves were used to analyze the predictive value of the risk factors.ResultsIn relation to the clinical data, there were statistically significant differences between the two groups of patients in terms of the lipid and coagulation indices. D-dimer [odds ratio (OR) =4.459, 95% confidence interval (CI): 1.871-10.625; P=0.001] and triglyceride (OR =6.001, 95% CI: 2.375-15.165; P<0.001) were independent risk factors for TS-AMCI. In relation to the radiographic characteristics, the infarctions in the TS-AMCI group were widely distributed in multiple arterial supply areas [23 (33.3%) vs. 10 (9.5%); P<0.001]. More importantly, bilateral anterior + posterior circulation was also an independent risk factor for TS-AMCI (OR =15.005, 95% CI: 1.757-128.17; P=0.013).ConclusionsUnexplained AMCI in the cancer-prone age group, abnormalities in the lipid and D-dimer levels, and infarction foci involving multiple arterial blood supply areas suggested a high probability of TS.
| S-EPMC10784078 | biostudies-literature
Project description:IntroductionRectal cancer affects more than 600 patients per year in Wales, with a 5-year survival rate of around 60%. A recent report demonstrated that 19% of patients with bowel cancer had difficulty controlling their bowels after surgery, and these patients were twice as likely to report lower quality of life than those who had control. Nearly all patients will experience bowel dysfunction initially following surgery and up to 25% will experience severe bowel dysfunction on a long-term basis. The aim of this study is to test the feasibility of introducing a simple intervention in an attempt to improve bowel function following surgery for rectal cancer. We propose the introduction of an educational session from specialist nurses and physiotherapists prior to surgery and a subsequent physiotherapy programme for 3 months to teach patients how to strengthen their pelvic floor.Methods and analysisAll patients with rectal cancer planned to receive an anterior resection will be approached for the study. The study will take place in three centres over 12 months, and we expect to recruit 40 patients. The primary outcome measure is the proportion of eligible patients approached who consent to and attend the educational session. The secondary outcomes include patient compliance to the pelvic floor rehabilitation programme (assessed by patient paper or electronic diary), the acceptability of the intervention to the patient (assessed using qualitative interviews) and preoperative and postoperative pelvic floor tone (assessed using the Oxford Grading System and the International Continence Society Grading System), patient bowel function and patient quality of life (assessed using validated questionnaires).Ethics and disseminationEthics approval was granted. This feasibility study is in progress. If patients find the intervention acceptable, the next stage would be a trial comparing outcomes after anterior resection in those who have and do not have physiotherapy.Trial registration numberISRCTN77383505; Pre-results.
| S-EPMC6042554 | biostudies-literature
Project description:BackgroundAlthough mortality due to COVID-19 is, for the most part, robustly tracked, its indirect effect at the population level through lockdown, lifestyle changes, and reorganisation of health-care systems has not been evaluated. We aimed to assess the incidence and outcomes of out-of-hospital cardiac arrest (OHCA) in an urban region during the pandemic, compared with non-pandemic periods.MethodsWe did a population-based, observational study using data for non-traumatic OHCA (N=30 768), systematically collected since May 15, 2011, in Paris and its suburbs, France, using the Paris Fire Brigade database, together with in-hospital data. We evaluated OHCA incidence and outcomes over a 6-week period during the pandemic in adult inhabitants of the study area.FindingsComparing the 521 OHCAs of the pandemic period (March 16 to April 26, 2020) to the mean of the 3052 total of the same weeks in the non-pandemic period (weeks 12-17, 2012-19), the maximum weekly OHCA incidence increased from 13·42 (95% CI 12·77-14·07) to 26·64 (25·72-27·53) per million inhabitants (p<0·0001), before returning to normal in the final weeks of the pandemic period. Although patient demographics did not change substantially during the pandemic compared with the non-pandemic period (mean age 69·7 years [SD 17] vs 68·5 [18], 334 males [64·4%] vs 1826 [59·9%]), there was a higher rate of OHCA at home (460 [90·2%] vs 2336 [76·8%]; p<0·0001), less bystander cardiopulmonary resuscitation (239 [47·8%] vs 1165 [63·9%]; p<0·0001) and shockable rhythm (46 [9·2%] vs 472 [19·1%]; p<0·0001), and longer delays to intervention (median 10·4 min [IQR 8·4-13·8] vs 9·4 min [7·9-12·6]; p<0·0001). The proportion of patients who had an OHCA and were admitted alive decreased from 22·8% to 12·8% (p<0·0001) in the pandemic period. After adjustment for potential confounders, the pandemic period remained significantly associated with lower survival rate at hospital admission (odds ratio 0·36, 95% CI 0·24-0·52; p<0·0001). COVID-19 infection, confirmed or suspected, accounted for approximately a third of the increase in OHCA incidence during the pandemic.InterpretationA transient two-times increase in OHCA incidence, coupled with a reduction in survival, was observed during the specified time period of the pandemic when compared with the equivalent time period in previous years with no pandemic. Although this result might be partly related to COVID-19 infections, indirect effects associated with lockdown and adjustment of health-care services to the pandemic are probable. Therefore, these factors should be taken into account when considering mortality data and public health strategies.FundingThe French National Institute of Health and Medical Research (INSERM).
| S-EPMC7255168 | biostudies-literature
Project description:A 44-year-old man presented with cerebellar ataxia and limbic encephalitis and was ultimately diagnosed with metastatic germ cell neoplasm resulting from a "burned out" primary testicular tumor. The patient had progressive ataxia, leading to a thorough investigation for infectious, autoimmune, metabolic, and malignant causes of acquired cerebellar ataxia that revealed no significant findings. Testicular sonography demonstrated a possible right testicular lesion that was not confirmed on radical inguinal orchiectomy. F18-FDG positron emission tomography/computerized tomography scan revealed a solitary retroperitoneal lesion, concerning for metastatic disease but not amenable to percutaneous biopsy. A robotic retroperitoneal lymph node dissection was performed and pathology revealed a CD117-positive metastatic seminoma leading to appropriate germ cell tumor-directed chemotherapy. After completing chemotherapy and during 1 year of follow-up, there has been a gradual improvement of the patient's neurological manifestations.
| S-EPMC5797537 | biostudies-literature
Project description:BackgroundOrgan shortage is a major public health issue, and patients who die after out-of-hospital cardiac arrest (OHCA) could be a valuable source of organs. Here, our objective was to identify factors associated with organ donation after brain death complicating OHCA, in unselected patients entered into a comprehensive real-life registry covering a well-defined geographic area.MethodsWe prospectively analyzed consecutive adults with OHCA who were successfully resuscitated, but died in intensive care units in the Paris region in 2011-2018. The primary outcome was organ donation after brain death. Independent risk factors were identified using logistic regression analysis. One-year graft survival was assessed using Cox and log-rank tests.ResultsOf the 3061 included patients, 136 (4.4%) became organ donors after brain death, i.e., 28% of the patients with brain death. An interaction between admission pH and post-resuscitation shock was identified. By multivariate analysis, in patients with post-resuscitation shock, factors associated with organ donation were neurological cause of OHCA (odds ratio [OR], 14.5 [7.6-27.4], P < 0.001), higher pH (OR/0.1 increase, 1.3 [1.1-1.6], P < 0.001); older age was negatively associated with donation (OR/10-year increase, 0.7 [0.6-0.8], P < 0.001). In patients without post-resuscitation shock, the factor associated with donation was neurological cause of OHCA (OR, 6.9 [3.0-15.9], P < 0.001); higher pH (OR/0.1 increase, 0.8 [0.7-1.0], P = 0.04) and OHCA at home (OR, 0.4 [0.2-0.7], P = 0.006) were negatively associated with organ donation. One-year graft survival did not differ according to Utstein characteristics of the donor.Conclusions4% of patients who died in ICU after OHCA led to organ donation. Patients with OHCA constitute a valuable source of donated organs, and special attention should be paid to young patients with OHCA of neurological cause.
| S-EPMC9170852 | biostudies-literature
Project description:Wiskott-Aldrich Syndrome, WAS/WAVE, is a rare, X-linked immune-deficiency disease caused by mutations in the WAS gene, which together with its homolog, N-WASP, regulates actin cytoskeleton remodeling and cell motility. WAS patients suffer from microthrombocytopenia, characterized by a diminished number and size of platelets, though the underlying mechanism is not fully understood. Here, we identified FLI1 as a direct transcriptional regulator of WAS and its binding partner WIP. Depletion of either WAS or WIP in human erythroleukemic cells accelerated cell proliferation, suggesting tumor suppressor function of both genes in leukemia. Depletion of WAS/WIP also led to a significant reduction in the percentage of CD41 and CD61 positive cells, which mark committed megakaryocytes. RNAseq analysis revealed common changes in megakaryocytic gene expression following FLI1 or WASP knockdown. However, in contrast to FLI1, WASP depletion did not alter expression of late-stage platelet-inducing genes. N-WASP was not regulated by FLI1, yet its silencing also reduced the percentage of CD41+ and CD61+ megakaryocytes. Moreover, combined knockdown of WASP and N-WASP further suppressed megakaryocyte differentiation, indicating a major cooperation of these related genes in controlling megakaryocytic cell fate. However, unlike WASP/WIP, N-WASP loss suppressed leukemic cell proliferation. WASP, WIP and N-WASP depletion led to induction of FLI1 expression, mediated by GATA1, and this may mitigate the severity of platelet deficiency in WAS patients. Together, these results uncover a crucial role for FLI1 in megakaryocyte differentiation, implicating this transcription factor in regulating microthrombocytopenia associated with Wiskott-Aldrich syndrome.
| S-EPMC7953068 | biostudies-literature