111 research outputs found
Oncogenetic testing and follow-up for women with familial breast/ovarian cancer, Li-Fraumeni syndrome and Cowden syndrome
SemanticCollage: Enriching Digital Mood Board Design with Semantic Labels
International audienceDesigners create inspirational mood boards to express their design ideas visually, through collages of images and text. They find appropriate images and reflect on them as they explore emergent design concepts. After presenting the results of a participatory design workshop and a survey of professional designers, we introduce SemanticCollage, a digital mood board tool that attaches semantic labels to images by applying a state- of-the-art semantic labeling algorithm. SemanticCollage helps designers to 1) translate vague, visual ideas into search terms; 2) make better sense of and communicate their designs; while 3) not disrupting their creative flow. A structured observation with 12 professional designers demonstrated how semantic labels help designers successfully guide image search and find relevant words that articulate their abstract, visual ideas. We conclude by discussing how SemanticCollage inspires new uses of semantic labels for supporting creative practice
Familial adhesive arachnoiditis associated with syringomyelia
Adhesive arachnoiditis is a rare condition, often complicated by syringomyelia. This pathologic entity is usually associated with prior spinal surgery, spinal inflammation or infection, and hemorrhage. The usual symptoms of arachnoiditis are pain, paresthesia, and weakness of the low extremities due to the nerve entrapment. A few cases have had no obvious etiology. Previous studies have reported one family with multiple cases of adhesive arachnoiditis. We report a second family of Belgian origin with multiple cases of arachnoiditis and secondary syringomyelia in the affected individuals
Undiagnosed osteoid osteoma of the spine presenting as painful scoliosis from adolescence to adulthood: a case report
Presented here is a case of a young woman, with an undiagnosed osteoid osteoma of the spine, which presented with painful scoliosis in adolescence and was treated by bracing until her accession to adulthood. A more thorough investigation, years after the initial one, revealed the tumor. Surgical excision and stabilization offered the long-awaited cure. Misdiagnosis resulted in intractable pain for years, deformity, the discomfort of brace therapy, and the frustration of a prolonged yet ineffective treatment
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Effect of Hydrocortisone on Mortality and Organ Support in Patients With Severe COVID-19: The REMAP-CAP COVID-19 Corticosteroid Domain Randomized Clinical Trial.
Importance: Evidence regarding corticosteroid use for severe coronavirus disease 2019 (COVID-19) is limited. Objective: To determine whether hydrocortisone improves outcome for patients with severe COVID-19. Design, Setting, and Participants: An ongoing adaptive platform trial testing multiple interventions within multiple therapeutic domains, for example, antiviral agents, corticosteroids, or immunoglobulin. Between March 9 and June 17, 2020, 614 adult patients with suspected or confirmed COVID-19 were enrolled and randomized within at least 1 domain following admission to an intensive care unit (ICU) for respiratory or cardiovascular organ support at 121 sites in 8 countries. Of these, 403 were randomized to open-label interventions within the corticosteroid domain. The domain was halted after results from another trial were released. Follow-up ended August 12, 2020. Interventions: The corticosteroid domain randomized participants to a fixed 7-day course of intravenous hydrocortisone (50 mg or 100 mg every 6 hours) (n = 143), a shock-dependent course (50 mg every 6 hours when shock was clinically evident) (n = 152), or no hydrocortisone (n = 108). Main Outcomes and Measures: The primary end point was organ support-free days (days alive and free of ICU-based respiratory or cardiovascular support) within 21 days, where patients who died were assigned -1 day. The primary analysis was a bayesian cumulative logistic model that included all patients enrolled with severe COVID-19, adjusting for age, sex, site, region, time, assignment to interventions within other domains, and domain and intervention eligibility. Superiority was defined as the posterior probability of an odds ratio greater than 1 (threshold for trial conclusion of superiority >99%). Results: After excluding 19 participants who withdrew consent, there were 384 patients (mean age, 60 years; 29% female) randomized to the fixed-dose (n = 137), shock-dependent (n = 146), and no (n = 101) hydrocortisone groups; 379 (99%) completed the study and were included in the analysis. The mean age for the 3 groups ranged between 59.5 and 60.4 years; most patients were male (range, 70.6%-71.5%); mean body mass index ranged between 29.7 and 30.9; and patients receiving mechanical ventilation ranged between 50.0% and 63.5%. For the fixed-dose, shock-dependent, and no hydrocortisone groups, respectively, the median organ support-free days were 0 (IQR, -1 to 15), 0 (IQR, -1 to 13), and 0 (-1 to 11) days (composed of 30%, 26%, and 33% mortality rates and 11.5, 9.5, and 6 median organ support-free days among survivors). The median adjusted odds ratio and bayesian probability of superiority were 1.43 (95% credible interval, 0.91-2.27) and 93% for fixed-dose hydrocortisone, respectively, and were 1.22 (95% credible interval, 0.76-1.94) and 80% for shock-dependent hydrocortisone compared with no hydrocortisone. Serious adverse events were reported in 4 (3%), 5 (3%), and 1 (1%) patients in the fixed-dose, shock-dependent, and no hydrocortisone groups, respectively. Conclusions and Relevance: Among patients with severe COVID-19, treatment with a 7-day fixed-dose course of hydrocortisone or shock-dependent dosing of hydrocortisone, compared with no hydrocortisone, resulted in 93% and 80% probabilities of superiority with regard to the odds of improvement in organ support-free days within 21 days. However, the trial was stopped early and no treatment strategy met prespecified criteria for statistical superiority, precluding definitive conclusions. Trial Registration: ClinicalTrials.gov Identifier: NCT02735707
Effect of angiotensin-converting enzyme inhibitor and angiotensin receptor blocker initiation on organ support-free days in patients hospitalized with COVID-19
IMPORTANCE Overactivation of the renin-angiotensin system (RAS) may contribute to poor clinical outcomes in patients with COVID-19.
Objective To determine whether angiotensin-converting enzyme (ACE) inhibitor or angiotensin receptor blocker (ARB) initiation improves outcomes in patients hospitalized for COVID-19.
DESIGN, SETTING, AND PARTICIPANTS In an ongoing, adaptive platform randomized clinical trial, 721 critically ill and 58 non–critically ill hospitalized adults were randomized to receive an RAS inhibitor or control between March 16, 2021, and February 25, 2022, at 69 sites in 7 countries (final follow-up on June 1, 2022).
INTERVENTIONS Patients were randomized to receive open-label initiation of an ACE inhibitor (n = 257), ARB (n = 248), ARB in combination with DMX-200 (a chemokine receptor-2 inhibitor; n = 10), or no RAS inhibitor (control; n = 264) for up to 10 days.
MAIN OUTCOMES AND MEASURES The primary outcome was organ support–free days, a composite of hospital survival and days alive without cardiovascular or respiratory organ support through 21 days. The primary analysis was a bayesian cumulative logistic model. Odds ratios (ORs) greater than 1 represent improved outcomes.
RESULTS On February 25, 2022, enrollment was discontinued due to safety concerns. Among 679 critically ill patients with available primary outcome data, the median age was 56 years and 239 participants (35.2%) were women. Median (IQR) organ support–free days among critically ill patients was 10 (–1 to 16) in the ACE inhibitor group (n = 231), 8 (–1 to 17) in the ARB group (n = 217), and 12 (0 to 17) in the control group (n = 231) (median adjusted odds ratios of 0.77 [95% bayesian credible interval, 0.58-1.06] for improvement for ACE inhibitor and 0.76 [95% credible interval, 0.56-1.05] for ARB compared with control). The posterior probabilities that ACE inhibitors and ARBs worsened organ support–free days compared with control were 94.9% and 95.4%, respectively. Hospital survival occurred in 166 of 231 critically ill participants (71.9%) in the ACE inhibitor group, 152 of 217 (70.0%) in the ARB group, and 182 of 231 (78.8%) in the control group (posterior probabilities that ACE inhibitor and ARB worsened hospital survival compared with control were 95.3% and 98.1%, respectively).
CONCLUSIONS AND RELEVANCE In this trial, among critically ill adults with COVID-19, initiation of an ACE inhibitor or ARB did not improve, and likely worsened, clinical outcomes.
TRIAL REGISTRATION ClinicalTrials.gov Identifier: NCT0273570
Les critères diagnostiques du syndrome de Lynch
Le syndrome de Lynch est décrit depuis longtemps et il est le plus fréquent des syndromes de prédisposition génétique au cancer du côlon, mais il reste très mal connu aujourd’hui. Deux raisons principales sont à l’origine de ce paradoxe : 1- le syndrome de Lynch a été décrit à une époque où la biologie particulière des cancers MSI-H n’était pas encore connue ; 2- la logique des critères d’Amsterdam a conduit à faire connaître le syndrome de Lynch d’une manière trompeuse, ne présentant presque pas les signes de la maladie pour ce qu’ils sont réellement, mais présentant en substance le syndrome de Lynch de manière négative par rapport à la polypose dominante. Le but de cette brève revue est de rectifier quelques-unes des idées fausses les plus répandues sur les aspects cliniques du syndrome de Lynch et donner quelques règles simples qui devraient permettre d’en faire facilement le diagnosticThe Lynch syndrome, which is the most common colon cancer predisposition syndrome, has been known for a long time. However, misconceptions about this disease remain widespread. Two main reasons account for this paradoxical situation: 1 - The Lynch syndrome was described long before the discovery of the MSI-H tumors' peculiar biology; 2-The rationale underlying the Amsterdam criteria led to presenting the Lynch syndrome in a distorted way, without addressing the disease's features for their own sake, but by explaining that the Lynch syndrome is not a dominant familial polyposis. Aim of this brief review is to settle right some of the most widespread misconceptions about the Lynch syndrome and to provide some simple rules that should enable an easy diagnosis of the diseas
Valeur pronostique de la durée des symptômes avant prise en charge dans les embolies pulmonaires à risque intermédiaire
BESANCON-BU Médecine pharmacie (250562102) / SudocSudocFranceF
Syndrome de polypose juvénile/telangiectasie hémorragique héréditaire
Le syndrome de Polypose Juvénile/Télangiectasie Hémorragique Héréditaire est une affection génétique rare associant à la fois le développement de polypes hamartomateux au niveau du tractus gastro-intestinal et la maladie de Rendu-Osler-Weber. Ces deux pathologies exposent les personnes porteuses à des risques accrus de cancer du tube digestif et de malformations vasculaires. Nous rapportons ici le cas d’un patient de 73 ans, chez lequel le diagnostic de polypose juvénile a été posé à l’âge de 67 ans, suite à un cancer bifocal du côlon gauche. Au cours de sa vie, ce patient avait présenté de nombreux épisodes d’épistaxis, pour lesquels aucune cause n’avait été mise en évidence. Sa fille aînée souffrant également d’épistaxis à répétition, une origine génétique avait alors été proposée. Afin d’organiser correctement le suivi de leurs patients, il est important que les praticiens susceptibles de voir en consultation une personne atteinte de Polypose Juvénile ou de Télangiectasie Hémorragique Héréditaire prennent en compte la possibilité que celle-ci présente le syndrome de PJ/THH. Que savons-nous à ce propos ? Le syndrome de PJ/THH est une affection à transmission autosomique dominante, qui favorise la formation de polypes hamartomateux au sein du tube digestif et de dysplasies vasculaires. Son diagnostic est peu aisé et les personnes porteuses sont exposées à des complications potentiellement mortelles en l’absence de traitement. Que nous apporte cet article ? Cet article décrit l’origine génétique de la pathologie ainsi que ses différentes présentations et ses complications éventuelles. Il expose un cas clinique illustrant la difficulté du diagnostic, ainsi que l’importance du dépistage génétique. Enfin, il détaille le suivi et les traitements des possibles complications de cette affection génétique.[Combined juvenile polyposis/ hereditary hemorrhagic telangiectasia syndrome] Combined juvenile polyposis/hereditary hemorrhagic telangectasia (JP/HHT) syndrome is a rare genetic disorder associating both the development of hamartomatous polyps in the gastrointestinal tract and the Rendu-Osler-Weber disease. Patients affected by these two pathologies are exposed to an increased risk of digestive tract cancers and vascular malformations. In this article, we present the case of a 73-year-old patient diagnosed with juvenile polyposis at the age of 67, following a bifocal left colon cancer. During his lifetime, this patient presented numerous epistaxis episodes without a clearly identified cause. Because his eldest daughter also suffered from repeated episodes of epistaxis, a genetic origin was then suggested. In order to properly organize the follow-up of their patients, it is important that practitioners likely to see a person suffering from JP/HHT in consultation take into account the possibility that this person might suffer from the JP/HHT syndrome. What is already known about the topic? The JP/HHT syndrome is an autosomal dominant disease promoting both the formation of hamartomatous polyps within the digestive tract and vascular dysplasia. Its diagnosis is uneasy and patients affected by this condition are exposed to life-threatening complications in the absence of treatment. What does this article bring up for us? This article describes the genetic origin of the pathology as well as its different presentations and possible complications. It presents a clinical case illustrating the difficulty of diagnosis, as well as the importance of genetic screening. Finally, it details the monitoring and treatments of the possible complications of this genetic condition
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