Presse Medicale最新文献_第4页

Main nose-throat-ears, and ophthalmic features in sickle cell disease children 镰状细胞病患儿鼻、喉、耳、眼的主要特征。

IF 2.7 3区医学

Presse Medicale Pub Date : 2023-12-01 DOI: 10.1016/j.lpm.2023.104210

Léon Tshilolo , Joseph Kelekele

引用次数: 0

Gene-addition/editing therapy in sickle cell disease 镰状细胞病的基因添加/编辑治疗。

IF 2.7 3区医学

Presse Medicale Pub Date : 2023-12-01 DOI: 10.1016/j.lpm.2023.104214

Galia Pollock , Olivier Negre , Jean-Antoine Ribeil

引用次数: 0

The liver in sickle cell disease 镰状细胞病的肝脏。

IF 2.7 3区医学

Presse Medicale Pub Date : 2023-12-01 DOI: 10.1016/j.lpm.2023.104212

Christophe Duvoux , Lorraine Blaise , Jean-Jacques Matimbo , Francky Mubenga , Norbert Ngongang , Monika Hurtova , Alexis Laurent , Jérémy Augustin , Julien Calderaro , Edouard Reizine , Alain Luciani , Anoosha Habibi , Dora Bachir , Geoffroy Vole , Justine Gellen-Dautremer , Vincent Leroy , Eric Levesque , Pablo Bartolucci

{"title":"The liver in sickle cell disease","authors":"Christophe Duvoux , Lorraine Blaise , Jean-Jacques Matimbo , Francky Mubenga , Norbert Ngongang , Monika Hurtova , Alexis Laurent , Jérémy Augustin , Julien Calderaro , Edouard Reizine , Alain Luciani , Anoosha Habibi , Dora Bachir , Geoffroy Vole , Justine Gellen-Dautremer , Vincent Leroy , Eric Levesque , Pablo Bartolucci","doi":"10.1016/j.lpm.2023.104212","DOIUrl":"10.1016/j.lpm.2023.104212","url":null,"abstract":"<div>Liver involvement in SCD 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 that can silently evolved towards end stages or facilitate ACLF, any persisting liver function tests 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 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, liver transplantation, 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 or jaundice/recurrent cholangitis in cholestatic diseases, with excellent outcome, - or emergently in case of ALF or ACLF with more mitigate results.To improve knowledge and management of SCD liver diseases, creation of national and international registries, as well as longitudinal observational cohorts are encouraged.</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}

引用次数: 0

Presentation of polymyalgia rheumatica and large joint polyarthritis in the spectrum of hyper-IgG4-related disease: A case report and literature review 高igg4相关疾病谱系中风湿性多肌痛和大关节多关节炎的表现:一例报告和文献复习

IF 2.7 3区医学

Presse Medicale Pub Date : 2023-11-17 DOI: 10.1016/j.lpm.2023.104206

Remi Roeland , Marine Trenec , Samuel Deshayes , Hubert de Boysson , Kevin Prigent , Achille Aouba

引用次数: 0

The ongoing challenge of RBC alloimmunization in the management of patients with sickle cell disease 红细胞同种异体免疫在镰状细胞病患者治疗中的挑战日益增加。

IF 2.7 3区医学

Presse Medicale Pub Date : 2023-11-17 DOI: 10.1016/j.lpm.2023.104211

Daniel Y. Chang, Zakary Wankier, Connie M. Arthur, Sean R. Stowell

{"title":"The ongoing challenge of RBC alloimmunization in the management of patients with sickle cell disease","authors":"Daniel Y. Chang, Zakary Wankier, Connie M. Arthur, Sean R. Stowell","doi":"10.1016/j.lpm.2023.104211","DOIUrl":"10.1016/j.lpm.2023.104211","url":null,"abstract":"<div>RBC transfusion remains a cornerstone in the treatment of sickle cell disease (SCD). However, as with many interventions, transfusion of RBCs 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 alloantigens 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 in patients with SCD who are most vulnerable to alloimmunization.</div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"52 4","pages":"Article 104211"},"PeriodicalIF":2.7,"publicationDate":"2023-11-17","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}

引用次数: 0

Screening for cognitive impairment in adults with sickle cell disease: A systematic review and meta-analysis 成人镰状细胞病的认知障碍筛查:系统回顾和荟萃分析

IF 2.7 3区医学

Presse Medicale Pub Date : 2023-11-17 DOI: 10.1016/j.lpm.2023.104207

Maryline Couette , Justine Roy , Damien Oudin Doglioni , Olena Bereznyakova , Christian Stapf , Gregory Jacquin , Valérie Fraïle , Philippe Desmarais , Sara-Maude Desforges , Lahoud Touma , Bénédicte Nauche , Pablo Bartolucci , Kevin H.M. Kuo , Stéphanie Forté

{"title":"Screening for cognitive impairment in adults with sickle cell disease: A systematic review and meta-analysis","authors":"Maryline Couette , Justine Roy , Damien Oudin Doglioni , Olena Bereznyakova , Christian Stapf , Gregory Jacquin , Valérie Fraïle , Philippe Desmarais , Sara-Maude Desforges , Lahoud Touma , Bénédicte Nauche , Pablo Bartolucci , Kevin H.M. Kuo , Stéphanie Forté","doi":"10.1016/j.lpm.2023.104207","DOIUrl":"10.1016/j.lpm.2023.104207","url":null,"abstract":"<div>Neurovascular disease such as symptomatic stroke, silent brain infarcts and vascular cognitive impairment are common complications of sickle cell disease (SCD) that can have devastating consequences on quality of life, 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 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 in patients with diverse cultural and educational backgrounds.</div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"52 4","pages":"Article 104207"},"PeriodicalIF":2.7,"publicationDate":"2023-11-17","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}

引用次数: 0

Pulmonary hypertension in sickle cell disease 镰状细胞病的肺动脉高压。

IF 2.7 3区医学

Presse Medicale Pub Date : 2023-11-14 DOI: 10.1016/j.lpm.2023.104209

Salma Al Kahf , Anne Roche , Audrey Baron , Christelle Chantalat-Auger , Laurent Savale

{"title":"Pulmonary hypertension in sickle cell disease","authors":"Salma Al Kahf , Anne Roche , Audrey Baron , Christelle Chantalat-Auger , Laurent Savale","doi":"10.1016/j.lpm.2023.104209","DOIUrl":"10.1016/j.lpm.2023.104209","url":null,"abstract":"<div>Sickle cell disease (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, thrombosis, hypoxia, or associated risk factors like portal hypertension. Screening symptomatic patients with echocardiographic signs of PH is crucial to determine those who should undergo right heart catheterization, 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 hydroxyurea or chronic blood exchange transfusion. 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.</div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"52 4","pages":"Article 104209"},"PeriodicalIF":2.7,"publicationDate":"2023-11-14","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}

引用次数: 0

Complement involvement in sickle cell disease 补体参与镰状细胞病

IF 2.7 3区医学

Presse Medicale Pub Date : 2023-11-14 DOI: 10.1016/j.lpm.2023.104205

Marie-Sophie Meuleman , Lubka T. Roumenina , Anne Grunenwald

引用次数: 0

Vascular pathophysiology of sickle cell disease 镰状细胞病的血管病理生理学。

IF 2.7 3区医学

Presse Medicale Pub Date : 2023-11-07 DOI: 10.1016/j.lpm.2023.104202

Philippe Connes , Céline Renoux , Philippe Joly , Elie Nader

{"title":"Vascular pathophysiology of sickle cell disease","authors":"Philippe Connes , Céline Renoux , Philippe Joly , Elie Nader","doi":"10.1016/j.lpm.2023.104202","DOIUrl":"10.1016/j.lpm.2023.104202","url":null,"abstract":"<div>Sickle cell disease (SCD) is an hereditary disorder characterized by the production of an abnormal hemoglobin called hemoglobin S (HbS). HbS may polymerize in deoxygenated conditions, which leads to red blood cell (RBC) sickling. Sickled RBCs are more rigid and fragile, and prone to lysis. SCD patients exhibit various acute and/or chronic complications, which may affect several organs. The clinical presentation of SCD is highly variable from one patient to another and cannot be only explained by RBC sickling. Increased blood viscosity, caused by the presence of RBCs with abnormal deformability and aggregation, may increase vascular resistance and increase the risk of acute and chronic vascular complications. Chronic hemolysis results in decreased nitric oxide (NO) bioavailability which may compromise vasodilation and participate to the development of chronic vasculopathy. Furthermore, chronic hemolysis is responsible for increased inflammation and oxidative stress, which affect the vascular system and may promote the adhesion of circulating cells to endothelial cells. Extracellular vesicles and especially RBC microparticles (massively released in the context of SCD) are also at the origin of vascular damages and increased white blood cells adhesion to the endothelium, which may trigger vaso-occlusive crisis and other vascular-related complications. This review highlights the fact that SCD should not only be considered as a hematological disorder but also as a vascular disease.</div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"52 4","pages":"Article 104202"},"PeriodicalIF":2.7,"publicationDate":"2023-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72015196","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}

引用次数: 0

Prevention of neurovascular complications in children with Sickle Cell Disease in the real-world setting: What adult medicine physicians should know 在现实世界中预防镰状细胞病儿童的神经血管并发症：成人医生应该知道的。

IF 2.7 3区医学

Presse Medicale Pub Date : 2023-11-07 DOI: 10.1016/j.lpm.2023.104201

Giulia Reggiani, Maria Paola Boaro, Raffaella Colombatti

{"title":"Prevention of neurovascular complications in children with Sickle Cell Disease in the real-world setting: What adult medicine physicians should know","authors":"Giulia Reggiani, Maria Paola Boaro, Raffaella Colombatti","doi":"10.1016/j.lpm.2023.104201","DOIUrl":"10.1016/j.lpm.2023.104201","url":null,"abstract":"<div>Neurovascular complications represent one of the most detrimental manifestations of Sickle Cell Disease (SCD), affecting many patients since infancy. They include overt stroke, silent cerebral infarcts and neurocognitive disorders. In fact, neurodevelopment can be impaired in children resulting in cognitive dysfunction in adults with SCD. This review is meant to resume the most recent guidelines about the prevention of SCD neurovascular complications and to highlight the open challenges in their implementation. Transcranial Doppler, Magnetic Resonance Imaging/Angiography and neurocognitive test are useful screening tools. Chronic transfusion regimen, hematopoietic stem cell transplantation and neurocognitive rehabilitation find indications in the context of primary and secondary prevention of neurovascular complications of SCD. However, international guidelines are often difficult to bring into the real world due to the lack of appropriate instruments and trained personnel. Many challenges have still to be faced to guarantee the best possible neurocognitive function to each child affected by SCD.</div>","PeriodicalId":20530,"journal":{"name":"Presse Medicale","volume":"52 4","pages":"Article 104201"},"PeriodicalIF":2.7,"publicationDate":"2023-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71522466","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}

引用次数: 0