Presse Medicale最新文献

{"title":"Gene-addition/editing therapy in sickle cell disease","authors":"Galia Pollock ,&nbsp;Olivier Negre ,&nbsp;Jean-Antoine Ribeil","doi":"10.1016/j.lpm.2023.104214","DOIUrl":"10.1016/j.lpm.2023.104214","url":null,"abstract":"<div><p><span>Gene therapy is an innovative strategy that offers potential cure for patients with sickle cell disease, and no appropriate donor for transplant consideration. While we await long term data from these </span>clinical trials<span>, we remain optimistic that gene therapy will become a standard of care for curative treatment in sickle cell disease. As gene therapy becomes a standard of treatment in sickle cell disease, we must also acknowledge the potential for financial burden to patients. We also must acknowledge the prevalence of sickle cell disease in low-resource settings. Hopefully, as we learn more about gene therapy, we can assess ways to overcome the financial toxicity that comes with this therapy.</span></p></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"52 4","pages":"Article 104214"},"PeriodicalIF":2.7,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138434920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fecal microbiota transplantation: History, procedure and regulatory considerations","authors":"Thanush D ,&nbsp;M.P. Venkatesh","doi":"10.1016/j.lpm.2023.104204","DOIUrl":"10.1016/j.lpm.2023.104204","url":null,"abstract":"<div><p><span><span><span>Fecal microbiota transplantation<span> (FMT) is a medical treatment<span> which involves the transfer of feces from a healthy donor to a recipient to restore the balance of gut microbiota and improve clinical outcomes. FMT has gained recognition in recent years due to its effectiveness in treating recurrent Clostridioides difficile infections (rCDI) and other </span></span></span>gastrointestinal disorders. Additionally, it has been studied as an intervention for some other conditions, like inflammatory bowel disease (IBD) and </span>irritable bowel syndrome (IBS). This review covers regulatory considerations related to FMT, including the current state of FMT regulation and the need for further research to fully understand the safety and efficacy of this treatment. For transplantation of fecal microbiota, the Food and Drug Administration (FDA) classifies the treatment as an investigational new </span>drug<span> (IND), which typically requires physicians and scientists to submit an IND application. Ethical issues surrounding FMT, including the necessity of informed consent from donors and recipients and the potential transmission of infectious agents, are also discussed. Overall, FMT has the potential to offer significant therapeutic benefits, but it also raises regulatory and ethical considerations that require careful consideration. Further research is necessary to fully comprehend risks and benefits of FMT and to develop guidelines for its use in clinical practice.</span></p></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"52 4","pages":"Article 104204"},"PeriodicalIF":2.7,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72015195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The liver in sickle cell disease","authors":"Christophe Duvoux ,&nbsp;Lorraine Blaise ,&nbsp;Jean-Jacques Matimbo ,&nbsp;Francky Mubenga ,&nbsp;Norbert Ngongang ,&nbsp;Monika Hurtova ,&nbsp;Alexis Laurent ,&nbsp;Jérémy Augustin ,&nbsp;Julien Calderaro ,&nbsp;Edouard Reizine ,&nbsp;Alain Luciani ,&nbsp;Anoosha Habibi ,&nbsp;Dora Bachir ,&nbsp;Geoffroy Vole ,&nbsp;Justine Gellen-Dautremer ,&nbsp;Vincent Leroy ,&nbsp;Eric Levesque ,&nbsp;Pablo Bartolucci","doi":"10.1016/j.lpm.2023.104212","DOIUrl":"10.1016/j.lpm.2023.104212","url":null,"abstract":"<div><p>Liver involvement in SCD<span><span><span> patients is frequent but often misdiagnosed or underestimated, except in case of advanced liver diseases. Because of so far poorly recognized forms of chronic SCD-related vascular injury<span> that can silently evolved towards end stages or facilitate ACLF, any persisting </span></span>liver function tests<span> abnormalities should be carefully investigated, following the above proposed algorithm. Work up and management must be considered multidisciplinary in relationship with a Hepatologist. Early SCD hepatopathy should prompt revision of SCD management to prevent further liver injury and decompensation, discussing transfusion exchanges<span> and hydro urea when not yet initiated, and control for any cofactor of liver injury. The role of HSCT in early SCD hepatopathies also deserves evaluation. In advanced SCD hepatopathies, </span></span></span>liver transplantation<span>, which has been rarely performed so far, is the only therapeutic option associated with improved survival. It should definitely be discussed- either electively in case of decompensation in SCD cirrhosis<span> or jaundice/recurrent cholangitis<span> in cholestatic diseases, with excellent outcome, - or emergently in case of ALF or ACLF with more mitigate results.</span></span></span></span></p><p>To improve knowledge and management of SCD liver diseases, creation of national and international registries, as well as longitudinal observational cohorts are encouraged.</p></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"52 4","pages":"Article 104212"},"PeriodicalIF":2.7,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138047814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The ongoing challenge of RBC alloimmunization in the management of patients with sickle cell disease","authors":"Daniel Y. Chang,&nbsp;Zakary Wankier,&nbsp;Connie M. Arthur,&nbsp;Sean R. Stowell","doi":"10.1016/j.lpm.2023.104211","DOIUrl":"10.1016/j.lpm.2023.104211","url":null,"abstract":"<div><p><span><span><span>RBC transfusion<span> remains a cornerstone in the treatment of </span></span>sickle cell disease (SCD). However, as with many interventions, transfusion of </span>RBCs<span><span> is not without risk. Allogeneic RBC exposure can result in the development of alloantibodies, which can make it difficult to find compatible RBCs for future transfusion and increases the likelihood of life-threatening complications. The development of RBC alloantibodies occurs when a patient's immune system produces alloantibodies against foreign </span>alloantigens<span> present on RBCs. Despite its longstanding recognition, RBC alloimmunization has increasingly become a challenge when caring for patients with SCD. The growing prominence of alloimmunization can be attributed to several factors, including expanded indications for transfusions, increased lifespan of patients with SCD, and inadequate approaches to prevent alloimmunization. Recognizing these challenges, recent observational studies and preclinical models have begun to elucidate the immune pathways that underpin RBC alloimmunization. These emerging data hold promise in paving the way for innovative prevention strategies, with the goal of increasing the safety and efficacy of RBC transfusion </span></span></span>in patients with SCD who are most vulnerable to alloimmunization.</p></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"52 4","pages":"Article 104211"},"PeriodicalIF":2.7,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138047813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Screening for cognitive impairment in adults with sickle cell disease: A systematic review and meta-analysis","authors":"Maryline Couette ,&nbsp;Justine Roy ,&nbsp;Damien Oudin Doglioni ,&nbsp;Olena Bereznyakova ,&nbsp;Christian Stapf ,&nbsp;Gregory Jacquin ,&nbsp;Valérie Fraïle ,&nbsp;Philippe Desmarais ,&nbsp;Sara-Maude Desforges ,&nbsp;Lahoud Touma ,&nbsp;Bénédicte Nauche ,&nbsp;Pablo Bartolucci ,&nbsp;Kevin H.M. Kuo ,&nbsp;Stéphanie Forté","doi":"10.1016/j.lpm.2023.104207","DOIUrl":"10.1016/j.lpm.2023.104207","url":null,"abstract":"<div><p><span>Neurovascular disease such as symptomatic stroke, silent brain infarcts<span><span> and vascular cognitive impairment are common complications of </span>sickle cell disease (SCD) that can have devastating consequences on </span></span>quality of life<span>, employment, and social functioning.  Early recognition of neurovascular disease is a prerequisite for the timely optimization of medical care and to connect patients to adaptive resources. While cognitive impairment has been well described in children, currently available data are limited in adults. As a result, guidance on the optimal cognitive screening strategies in adults is scarce. We conducted a systematic review<span><span> to identify the different screening tools that have been evaluated in SCD. A meta-analysis was performed to estimate the prevalence of suspected cognitive impairment in this population. In this qualitative synthesis, we present 8 studies that evaluated 6 different screening tools. Patient characteristics that impacted on cognitive screening performance included age, education level, and a prior history of stroke. We report a pooled prevalence of 38% [14–62%] of suspected cognitive impairment. We discuss the relative benefits and limitations of the different screening tools to help clinicians select an adapted approach tailored to their specific patients’ needs. Further studies are needed to establish and validate cognitive screening strategies </span>in patients with diverse cultural and educational backgrounds.</span></span></p></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"52 4","pages":"Article 104207"},"PeriodicalIF":2.7,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138047812","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sickle cell disease and pregnancy","authors":"Julie Carrara ,&nbsp;Anoosha Habibi ,&nbsp;Alexandra Benachi ,&nbsp;Geoffrey Cheminet","doi":"10.1016/j.lpm.2023.104203","DOIUrl":"10.1016/j.lpm.2023.104203","url":null,"abstract":"<div><p><span><span>Pregnancy is a particularly risky period in the life of patients with sickle cell disease (SCD). Physiological changes during pregnancy increase the risk of vaso-occlusive crises (VOC), acute chest syndrome, venous </span>thromboembolic events, and infections. This concerns haemoglobin (Hb) S/C and S/β</span>⁺-thalassaemia patients as much than S/S or S/β⁰<span><span><span>-thalassaemia patients. SCD<span><span><span> also increases the risk of obstetrical complications, such as preeclampsia<span>, in utero foetal death, </span></span>preterm delivery mostly induced, and </span>intrauterine growth restriction<span><span>. Thus, pregnancy should be planned and closely monitored by a multidisciplinary team involving obstetricians and sickle cell disease specialists. Before pregnancy, the parents should also be informed about the risk of transmission of this autosomal recessive disease, and the father should therefore be prescribed </span>haemoglobin electrophoresis<span>. Treatments have to be revised when planning pregnancy: </span></span></span></span>hydroxyurea<span><span> (HU) should be stopped as soon as pregnancy is suspected or confirmed. Preventive blood transfusion is not systematic, but is recommended in the case of a pre-existing transfusion program prior to pregnancy, severe pre-existing organ damage, severe </span>obstetric history, and severe or repeated crises during follow-up, especially </span></span>in patients<span><span> taking HU before. Despite the risks of prematurity, systematic administration of corticosteroids for foetal lung maturation<span> is not recommended due to the risk of maternal vaso-occlusive event. Although more frequent, due to obstetrical and maternal complications, caesarean section is not systematic, in the absence of maternal contraindications. It is advisable not to exceed the term of 39 weeks of </span></span>amenorrhoea. Post-partum follow-up is recommended, particularly because of the risk of thromboembolism.</span></span></p></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"52 4","pages":"Article 104203"},"PeriodicalIF":2.7,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71522467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pulmonary hypertension in sickle cell disease","authors":"Salma Al Kahf ,&nbsp;Anne Roche ,&nbsp;Audrey Baron ,&nbsp;Christelle Chantalat-Auger ,&nbsp;Laurent Savale","doi":"10.1016/j.lpm.2023.104209","DOIUrl":"10.1016/j.lpm.2023.104209","url":null,"abstract":"<div><p><span>Sickle cell disease<span><span> (SCD) is a complex genetic disorder that has long challenged both patients and healthcare professionals. One of its chronic and debilitating complications is pulmonary hypertension (PH). SCD-associated PH is often post-capillary, secondary to left heart disease. It can also sometimes be pre-capillary with multiple and often interrelated mechanisms including obstructive remodeling of the pulmonary vascular bed secondary to hemolysis, endothelial dysfunction<span>, thrombosis, hypoxia, or associated risk factors like </span></span>portal hypertension<span>. Screening symptomatic patients with echocardiographic signs of PH is crucial to determine those who should undergo right heart catheterization<span>, the cornerstone exam to diagnose and categorize patients with PH. The workup following the diagnosis relies on identifying the cause of PH to personalize treatment. Ongoing efforts are made to treat this complex condition, starting with treating the underlying disease with </span></span></span></span>hydroxyurea<span> or chronic blood exchange transfusion<span>. Robust data on the efficacy of PAH-specific therapies are lacking in this specific population. Initiation of such therapies must be made by an expert center after a case-by-case assessment of the benefit-risk ratio according to the phenotype and the mechanisms involved in the development of PH. Efforts are also poured into studying the interventional and medical therapies used on chronic thromboembolic PH for patients presenting with a thrombotic form. The management of those patients requires a multidisciplinary approach, with conjoint efforts from PH and SCD specialists.</span></span></p></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"52 4","pages":"Article 104209"},"PeriodicalIF":2.7,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134649620","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Complement involvement in sickle cell disease","authors":"Marie-Sophie Meuleman ,&nbsp;Lubka T. Roumenina ,&nbsp;Anne Grunenwald","doi":"10.1016/j.lpm.2023.104205","DOIUrl":"10.1016/j.lpm.2023.104205","url":null,"abstract":"<div><p><span>Sickle Cell Disease<span> (SCD) is a hereditary blood disorder characterized by the presence of </span></span>abnormal hemoglobin<span><span>, leading to the formation of sickle-shaped red blood cells<span>, causing vaso-occlusion. Inflammation is a key component of the pathophysiology<span> of SCD, contributing to the vascular complications and tissue damage. This review is centered on exploring the role of the inflammatory complement system in the pathophysiology of SCD. Our goal is to offer a comprehensive summary of the existing evidence regarding complement activation </span></span></span>in patients with SCD, encompassing both steady-state conditions and episodes of vaso-occlusive events. Additionally, we will discuss the proposed mechanisms by which the complement system may contribute to tissue injury in this pathology. Finally, we will provide an overview of the available evidence concerning the effectiveness of therapeutic interventions aimed at blocking the complement system in the context of SCD and discuss the perspective of complement inhibition.</span></p></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"52 4","pages":"Article 104205"},"PeriodicalIF":2.7,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135763893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Facing the Evidences with Type 2 Diabetes: Contemporary Challenges","authors":"Michel Marre","doi":"10.1016/j.lpm.2023.104179","DOIUrl":"10.1016/j.lpm.2023.104179","url":null,"abstract":"","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"52 1","pages":"Article 104179"},"PeriodicalIF":2.7,"publicationDate":"2023-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41145528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Severity of kidney involvement as predictor of death, severe heart failure and renal events in patients with type 2 diabetes: data from a prospective cohort","authors":"Samy Hadjadj ,&nbsp;Pierre Jean Saulnier ,&nbsp;Bertrand Cariou ,&nbsp;SURDIAGENE study investigators","doi":"10.1016/j.lpm.2023.104177","DOIUrl":"10.1016/j.lpm.2023.104177","url":null,"abstract":"<div><p>Type 2 diabetes is associated with an increased risk for end-stage renal disease and heart failure, contributing to premature death. All these 3 events are inter-related, suggesting common risk factors and/or pathophysiological pathways.</p><p>The SURDIAGENE (SUrvie Rénale DIAbète et GENEtique) cohort is a single centre hospital-based cohort of persons living with type 2 diabetes, recruiting participants at Poitiers university hospital, France, from 2002 to 2011 with further follow-up till 2015.</p><p>Here, we describe the cumulative prevalence of hard renal events (sustained doubling of serum creatinine and/or renal replacement therapy), heart failure leading to hospitalization (HFH) and all-cause death, according to the KDIGO classification, which considers CKD stages according to CKD EPI equation <span>[1]</span>, <span>[2]</span>, <span>[3]</span>, <span>[4]</span>, <span>[5]</span> and albuminuria (A1, A2, A3) according to albumin/creatinine ratio with thresholds at 30 and 300 mg/g. We considered 1450 participants with KDIGO stage available at baseline.</p><p>Considering a cumulated follow-up duration of 10667 patient.years with 100 renal events, 247 HFH and 527 deaths, our study showed that the more severe the KDIGO stage, the higher the incidence rate not only for renal event, but also for HFH and for all-cause death. For instance, in CKD1A1 and CKD4A3 the incidence rates for hard renal events, HFH and death were 0.98 and 140.70, 4.46 and 107.09, 13.64 and 156.56 per 1000 patient.years, respectively. Interestingly, the incidence of renal event was lower than the incidence of all-cause death in all KDIGO stages, at variance with the data from recent renal outcome trials on SGLT2 inhibitors and finerenone.</p><p>We conclude that KDIGO stages should be considered for renal but also for HFH risk classification. The analysis of the respective incidence of renal events and deaths in observational studies and RCTs deserves further evaluation in type 2 diabetes.</p></div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"52 1","pages":"Article 104177"},"PeriodicalIF":2.7,"publicationDate":"2023-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41145870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}