Current opinion in pediatrics最新文献_第5页

Riding the gene therapy wave: challenges and opportunities for rare disease patients and clinicians. 驾驭基因治疗浪潮：罕见病患者和临床医生面临的挑战和机遇。

IF 2.2 3区医学

Current opinion in pediatrics Pub Date : 2024-12-01 Epub Date: 2024-09-17 DOI: 10.1097/MOP.0000000000001402

Matthew S Alexander, Nathaniel H Robin

{"title":"Riding the gene therapy wave: challenges and opportunities for rare disease patients and clinicians.","authors":"Matthew S Alexander, Nathaniel H Robin","doi":"10.1097/MOP.0000000000001402","DOIUrl":"10.1097/MOP.0000000000001402","url":null,"abstract":"Purpose of review: A growing number of gene therapies are getting FDA-approved for pediatric rare disorders to treat once incurable diseases. Opportunities for preventing lifetime illness and improving quality of life for these patients is now becoming a reality. Challenges exist in navigating the complexities of determining which patients will benefit from these new gene therapies and how to effectively deliver them as a standard of care.Recent findings: Gene therapies have been approved for pediatric hematological, neuromuscular, cancer, and other disorders that have improved the quality of life for rare disease patients. FDA approval of these drugs has been on a case-by-case basis leading towards gaps in drug approval, physician and patient knowledge of new gene therapies, and ultimate delivery of these drugs. Identifying patients that would benefit from these drugs and other coordination of care issues have arisen with each unique gene therapy product. These gene therapies have unique requirements and patient indications that require a knowledgeable group of physicians and hospital administrators to incorporate their use as a standard of care. With more gene therapies on the near horizon for FDA approval, multidisciplinary teams may improve patient access to these drugs by streamlining approaches towards adapting gene therapies into clinical use.Summary: The rapid increase in the number of FDA-approved gene therapies has not only created a number of challenges but also opportunities to improve the lives of pediatric patients with rare disorders. The adaptability of physicians, hospitals, and governmental regulatory boards is essential for delivering these new gene therapies safely and efficiently to these rare disease patients. Challenges still remain as to future requirements for additional gene therapy dosing and how to best manage financial burdens placed on the patient and providing institution.","PeriodicalId":10985,"journal":{"name":"Current opinion in pediatrics","volume":" ","pages":"619-623"},"PeriodicalIF":2.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11560580/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142281744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Transplantation for immune dysregulatory disorders: current themes and future expectations. 移植治疗免疫调节失调症：当前的主题和未来的期望。

IF 2.2 3区医学

Current opinion in pediatrics Pub Date : 2024-12-01 Epub Date: 2024-09-26 DOI: 10.1097/MOP.0000000000001401

Susan E McClory, Joseph H Oved

{"title":"Transplantation for immune dysregulatory disorders: current themes and future expectations.","authors":"Susan E McClory, Joseph H Oved","doi":"10.1097/MOP.0000000000001401","DOIUrl":"10.1097/MOP.0000000000001401","url":null,"abstract":"Purpose of review: Primary immune regulatory disorders (PIRDs) are an increasing indication for hematopoietic stem cell transplant (HCT) in pediatric patients. Here, we provide an updated overview of HCT for PIRDs, and discuss future avenues for improvement in outcomes.Recent findings: There are now more than 50 described monogenic PIRDs, which impact all aspects of immune tolerance, regulation, and suppression. Disease characteristics are highly variable, and HCT remains the only option for cure. We review advances in targeted therapies for individual PIRDs, which have significantly improved outcomes and the ability to safely bridge to transplant. Additionally, advances in GVHD prevention, graft manipulation, personalized conditioning regimens, and supportive care have all increased survival after HCT. The high inflammatory state increases the risk of nonengraftment, rejection, and autologous reconstitution. Therapy to reduce the inflammatory state may further improve outcomes. In addition, although younger patients with fewer comorbidities have better outcomes, the clinical courses of these diseases may be extremely variable thereby complicating the decision to proceed to HCT.Summary: HCT for PIRDs is a growing consideration in cell therapy. Yet, there remain significant gaps in our understanding of which patients this curative therapy could benefit the most. Here, we review the current data supporting HCT for PIRDs as well as areas for future improvement.","PeriodicalId":10985,"journal":{"name":"Current opinion in pediatrics","volume":" ","pages":"693-701"},"PeriodicalIF":2.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142343336","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

Treatment of spinal muscular atrophy. 治疗脊髓性肌肉萎缩症。

IF 2.2 3区医学

Current opinion in pediatrics Pub Date : 2024-12-01 Epub Date: 2024-09-13 DOI: 10.1097/MOP.0000000000001403

Maria Carmela Pera, Eugenio Mercuri

引用次数: 0

Single center experience developing sustainable genetics clinical care: a model to address workforce challenges in medical genetics. 发展可持续遗传学临床护理的单一中心经验：应对医学遗传学劳动力挑战的模式。

IF 2.2 3区医学

Current opinion in pediatrics Pub Date : 2024-12-01 Epub Date: 2024-09-19 DOI: 10.1097/MOP.0000000000001404

Aaron Kinney, Shelisa A Dalton, Julie McCarrier, Donald Basel

{"title":"Single center experience developing sustainable genetics clinical care: a model to address workforce challenges in medical genetics.","authors":"Aaron Kinney, Shelisa A Dalton, Julie McCarrier, Donald Basel","doi":"10.1097/MOP.0000000000001404","DOIUrl":"10.1097/MOP.0000000000001404","url":null,"abstract":"Purpose of review: The national workforce shortage in genetics is being evaluated in order to identify a sustainable solution to the increasing demand for genomic services. An innovative solution to the short term needs is to integrate advanced practice providers (APPs) and embed genetic counselors into both outpatient and inpatient specialty care. Incorporating APPs into a genetic service is not unique in itself, but the method of implementation at Medical College of Wisconsin (MCW) was, at the time, unchartered.Recent findings: There are >100 vacancies for board certified medical geneticists across the nation, training programs are not enrolling sufficient trainees to meet demand and more than a third of the current workforce plan to retire within the next 10 years.Summary: The integration of advanced practice providers (nurse practitioners, midwives, physician assistants etc.) into both primary and specialty care has been an evolving practice since the mid-1900s and incorporating APPs into a genetic service was not unique in itself but the method of implementation was new at that time. This is a model to successfully develop a clinical practice model around a team-based structure incorporating nurse clinicians, advanced practice providers, genetic counselors, nutritionists, and physicians into an academic clinical genetics practice.","PeriodicalId":10985,"journal":{"name":"Current opinion in pediatrics","volume":" ","pages":"605-611"},"PeriodicalIF":2.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11540278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142281745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pediatric acquired demyelinating syndromes: updates in diagnosis, testing, and management. 小儿获得性脱髓鞘综合征：诊断、检测和管理的最新进展。

IF 2.2 3区医学

Current opinion in pediatrics Pub Date : 2024-12-01 Epub Date: 2024-10-16 DOI: 10.1097/MOP.0000000000001405

Amytice Mirchi, Sarah Hopkins

{"title":"Pediatric acquired demyelinating syndromes: updates in diagnosis, testing, and management.","authors":"Amytice Mirchi, Sarah Hopkins","doi":"10.1097/MOP.0000000000001405","DOIUrl":"10.1097/MOP.0000000000001405","url":null,"abstract":"Purpose of review: To highlight the clinical presentation, diagnostic approach, and management of acquired inflammatory demyelinating syndromes in children.Recent findings: The identification of myelin oligodendrocyte glycoprotein antibody-associated disease in 2017 and evolving evidence regarding best practices for management has had a significant impact on pediatric neuroimmunology, as has the shift in treatment of pediatric-onset multiple sclerosis, with the use of high-efficacy disease-modifying therapies early in the disease course.Summary: With expanding awareness and growing interest in pediatric onset neuroinflammatory conditions, the number of children diagnosed with acquired demyelinating syndromes is rising. It is critical to refine our understanding of the underlying pathophysiological mechanisms in these disorders to provide the most effective care. Much of our practice continues to be modeled on adult care, and further large-scale pediatric studies are necessary to explore the natural history and assess the safety and efficacy of immunotherapies in childhood-onset demyelinating diseases.","PeriodicalId":10985,"journal":{"name":"Current opinion in pediatrics","volume":"36 6","pages":"644-652"},"PeriodicalIF":2.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603561","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

Editorial introductions. 编辑介绍。

IF 2.2 3区医学

Current opinion in pediatrics Pub Date : 2024-12-01 Epub Date: 2024-11-07 DOI: 10.1097/MOP.0000000000001411

引用次数: 0

Hematopoietic cell transplantation for inborn errors of immunity: an update on approaches, outcomes and innovations. 造血细胞移植治疗先天性免疫错误：方法、结果和创新的最新进展。

IF 2.2 3区医学

Current opinion in pediatrics Pub Date : 2024-12-01 Epub Date: 2024-09-25 DOI: 10.1097/MOP.0000000000001407

Olatundun Williams

{"title":"Hematopoietic cell transplantation for inborn errors of immunity: an update on approaches, outcomes and innovations.","authors":"Olatundun Williams","doi":"10.1097/MOP.0000000000001407","DOIUrl":"10.1097/MOP.0000000000001407","url":null,"abstract":"Purpose of review: Allogeneic hematopoietic cell transplantation (HCT) is a curative option for many for inborn errors of immunity (IEI). This review highlights recent progress in the field of HCT for IEI.Recent findings: Alternative donor transplantation continues to expand donor options for patients with IEI. Reduced intensity and reduced toxicity conditioning approaches are being investigated and optimized. Immunomodulatory bridging therapies are yielding impressive progress in outcomes for primary immune regulatory disorders (PIRD) but require further study in prospective trials. Single-institution, multicenter and consortium studies have improved our understanding of factors that affect overall outcomes in IEI and outcomes in Wiskott-Aldrich syndrome (WAS), chronic granulomatous disease (CGD) and PIRD in particular. Data show that second HCT offers a viable chance of cure to some IEI patients. Late effects in IEI HCT survivors are being better characterized. Preclinical studies of chemo(radiation)-free HCT strategies hold promise for decreasing HCT toxicity.Summary: Improvements in our understanding of HCT donor choice, conditioning regimen, immunomodulatory bridging therapies, diagnostic and post-HCT surveillance testing and late effects continue to yield advancements in the field of HCT for IEI.","PeriodicalId":10985,"journal":{"name":"Current opinion in pediatrics","volume":" ","pages":"653-658"},"PeriodicalIF":2.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142343335","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

The genetics workforce must be addressed before we can realize the benefits of gene therapy. 在我们实现基因疗法的益处之前，必须先解决基因工作队伍的问题。

IF 2.2 3区医学

Current opinion in pediatrics Pub Date : 2024-12-01 Epub Date: 2024-11-07 DOI: 10.1097/MOP.0000000000001400

Nathaniel H Robin

引用次数: 0

Pediatric acquired demyelinating syndromes: updates in diagnosis, testing, and management. 小儿获得性脱髓鞘综合征：诊断、检测和管理的最新进展。

IF 2.2 3区医学

Current opinion in pediatrics Pub Date : 2024-10-17 DOI: 10.1097/MOP.0000000000001405

Amytice Mirchi, Sarah Hopkins

{"title":"Pediatric acquired demyelinating syndromes: updates in diagnosis, testing, and management.","authors":"Amytice Mirchi, Sarah Hopkins","doi":"10.1097/MOP.0000000000001405","DOIUrl":"https://doi.org/10.1097/MOP.0000000000001405","url":null,"abstract":"Purpose of review: To highlight the clinical presentation, diagnostic approach, and management of acquired inflammatory demyelinating syndromes in children.Recent findings: The identification of myelin oligodendrocyte glycoprotein antibody-associated disease in 2017 and evolving evidence regarding best practices for management has had a significant impact on pediatric neuroimmunology, as has the shift in treatment of pediatric-onset multiple sclerosis, with the use of high-efficacy disease-modifying therapies early in the disease course.Summary: With expanding awareness and growing interest in pediatric onset neuroinflammatory conditions, the number of children diagnosed with acquired demyelinating syndromes is rising. It is critical to refine our understanding of the underlying pathophysiological mechanisms in these disorders to provide the most effective care. Much of our practice continues to be modeled on adult care, and further large-scale pediatric studies are necessary to explore the natural history and assess the safety and efficacy of immunotherapies in childhood-onset demyelinating diseases.","PeriodicalId":10985,"journal":{"name":"Current opinion in pediatrics","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603546","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

Diastolic dysfunction: assessment and implications on the single ventricle circulation. 舒张功能障碍：评估和对单心室循环的影响。

IF 2.2 3区医学

Current opinion in pediatrics Pub Date : 2024-10-01 Epub Date: 2024-07-24 DOI: 10.1097/MOP.0000000000001385

Ahmed A Hassan, Alexander Van De Bruaene, Mark K Friedberg

{"title":"Diastolic dysfunction: assessment and implications on the single ventricle circulation.","authors":"Ahmed A Hassan, Alexander Van De Bruaene, Mark K Friedberg","doi":"10.1097/MOP.0000000000001385","DOIUrl":"https://doi.org/10.1097/MOP.0000000000001385","url":null,"abstract":"Purpose of review: Patients with a functionally single ventricle (SV) are palliated with a series of procedures leading to a Fontan circulation. Over the life span, a substantial proportion of SV patients develop heart failure that can arise from circulatory or ventricular failure. Diastolic dysfunction (DD) is an important determinant of adverse outcomes in SV patients. However, assessment and categorization of DD in the SV remains elusive. We review recent literature and developments in assessment of DD in the SV and its relation to clinical outcomes.Recent findings: DD is prevalent in the SV and associated with worse outcomes. Occult DD can be exposed with provocative testing by exercise or preload challenge during catheterization. Likewise, sensitivity to detect DD may be increased via assessment of atrial function and strain imaging. Recent studies revisiting previous concepts such as incoordinate diastolic wall motion show that these are associated with SV end-diastolic pressures and post-Fontan recovery, yielding accessible DD assessment. Emerging technologies such as ultrafast ultrasound (UFUS) can provide noninvasive assessment of myocardial stiffness, inefficient diastolic flow patterns and intraventricular pressure gradients, thereby yielding new tools and insights into diastolic myocardial and hemodynamic properties.Summary: Characterizing DD in the SV continues to have substantial limitations, necessitating synthesis of multiple parameters into an overall assessment, accounting for their change over time, and in the context of the patient's clinical status. New and emerging techniques may help advance DD assessment and the ability to track response to treatment of new targets.","PeriodicalId":10985,"journal":{"name":"Current opinion in pediatrics","volume":"36 5","pages":"503-511"},"PeriodicalIF":2.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142281748","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