Faculty reviews最新文献_第4页

A genetic roadmap to the response to genotoxic agents in human cells. 人类细胞对基因毒性制剂反应的基因路线图。

Faculty reviews Pub Date : 2022-11-21 eCollection Date: 2022-01-01 DOI: 10.12703/r-01-0000019

Alberto Ciccia, Roger A Greenberg, Susan P Lees-Miller, Andre Nussenzweig

引用次数: 0

Recent advances in understanding telomere diseases. 了解端粒疾病的最新进展。

Faculty reviews Pub Date : 2022-10-19 eCollection Date: 2022-01-01 DOI: 10.12703/r/11-31

Vinicius S Carvalho, Willian R Gomes, Rodrigo T Calado

{"title":"Recent advances in understanding telomere diseases.","authors":"Vinicius S Carvalho, Willian R Gomes, Rodrigo T Calado","doi":"10.12703/r/11-31","DOIUrl":"https://doi.org/10.12703/r/11-31","url":null,"abstract":"Germline genetic defects impairing telomere length maintenance may result in severe medical conditions in humans, from aplastic anemia and myeloid neoplasms to interstitial lung disease and liver cirrhosis, from childhood (dyskeratosis congenita) to old age (pulmonary fibrosis). The molecular mechanisms underlying these clinically distinct disorders are pathologically excessive telomere erosion, limiting cell proliferation and differentiation, tissue regeneration, and increasing genomic instability. Recent findings also indicate that telomere shortening imbalances stem cell fate and is associated with an abnormal inflammatory response and the senescent-associated secretory phenotype. Bone marrow failure is the most common phenotype in patients with telomere diseases. Pulmonary fibrosis is a typical phenotype in older patients, and disease progression appears faster than in pulmonary fibrosis not associated with telomeropathies. Liver cirrhosis may present in isolation or in combination with other phenotypes. Diagnosis is based on clinical suspicion and may be confirmed by telomere length measurement and genetic testing. Next-generation sequencing (NGS) techniques have improved genetic testing; today, at least 16 genes have been implicated in telomeropathies. NGS also allows tracking of clonal hematopoiesis and malignant transformation. Patients with telomere diseases are at high risk of developing cancers, including myeloid neoplasms and head and neck cancer. However, treatment options are still limited. Transplant modalities (bone marrow, lung, and liver) may be definitive to the respective organ involvement but limited by donor availability, comorbidities, and impact on other affected organs. In clinical trials, androgens elongate telomeres of peripheral blood leukocytes and improve hematopoiesis. Further understanding of how telomere erosion impairs organ function and how somatic mutations evolve in the hematopoietic tissue may help develop new strategies to treat and prevent telomere diseases.","PeriodicalId":73016,"journal":{"name":"Faculty reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9586155/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40671447","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Recent updates in the treatment of diabetic polyneuropathy. 糖尿病多发性神经病变治疗的最新进展。

Faculty reviews Pub Date : 2022-10-18 eCollection Date: 2022-01-01 DOI: 10.12703/r/11-30

Qihua Fan, A Gordon Smith

引用次数: 0

Taking out the trash: How misfolded proteins are removed from the endoplasmic reticulum. 倒垃圾折叠错误的蛋白质是如何从内质网中清除的？

Faculty reviews Pub Date : 2022-10-05 eCollection Date: 2022-01-01 DOI: 10.12703/r-01-0000018

Jeffrey L Brodsky, Donald M Engelman, Linda M Hendershot, Stefano Piana-Agostinetti, Thomas Sommer

引用次数: 0

Recent advances in the treatment of multiple myeloma: a brief review. 多发性骨髓瘤治疗的最新进展:简要回顾。

Faculty reviews Pub Date : 2022-09-29 eCollection Date: 2022-01-01 DOI: 10.12703/r/11-28

Arthur Bobin, Xavier Leleu

{"title":"Recent advances in the treatment of multiple myeloma: a brief review.","authors":"Arthur Bobin, Xavier Leleu","doi":"10.12703/r/11-28","DOIUrl":"https://doi.org/10.12703/r/11-28","url":null,"abstract":"The recent history of multiple myeloma has been marked by tremendous advances in the treatments available, which have ultimately improved the patients' survival. Immune-based therapies, starting with the emergence of anti-CD38 monoclonal antibodies, whose impact is seen across all groups of patients, are probably the greatest evolution in the field of myeloma so far. Building on the efficacy of immunotherapy, \"modern\" immunological treatments such as CAR-T cells or bispecific antibodies are being developed. There clearly are lots of expectations for these novel immunotherapies, and, though first developed in relapsed myeloma, they will surely challenge the current strategies in early lines of treatment. Immunotherapy, since the development of anti-CD38, is a milestone in the treatment of myeloma and has already led to many paradigm shifts. Nevertheless, myeloma remains an incurable disease and diversified options are still required, notably for heavily pretreated patients. Non-immune-based treatments, which were responsible for most successes previously, are not to be completely abandoned. Novel pathophysiological mechanisms have been unraveled in the past few years, and thus, new targets have been identified, leading to the development of new drugs and new drug classes, such as XPO1 inhibitors and anti-BCL-2. Overall, the future of multiple myeloma is full of possibilities and considerable changes are still expected in the sequencing of treatments in the years to come.","PeriodicalId":73016,"journal":{"name":"Faculty reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9523543/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33503535","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Recent advances in understanding the role of eosinophils. 了解嗜酸性粒细胞作用的最新进展。

Faculty reviews Pub Date : 2022-09-27 eCollection Date: 2022-01-01 DOI: 10.12703/r/11-26

Gregory M Constantine, Amy D Klion

引用次数: 3

Recent advances in understanding cell type transitions during dorsal neural tube development. 了解背神经管发育过程中细胞类型转变的最新进展。

Faculty reviews Pub Date : 2022-09-27 eCollection Date: 2022-01-01 DOI: 10.12703/r/11-27

Chaya Kalcheim, Dina Rekler

{"title":"Recent advances in understanding cell type transitions during dorsal neural tube development.","authors":"Chaya Kalcheim, Dina Rekler","doi":"10.12703/r/11-27","DOIUrl":"https://doi.org/10.12703/r/11-27","url":null,"abstract":"The vertebrate neural tube is a representative example of a morphogen-patterned tissue that generates different cell types with spatial and temporal precision. More specifically, the development of the dorsal region of the neural tube is of particular interest because of its highly dynamic behavior. First, early premigratory neural crest progenitors undergo an epithelial-to-mesenchymal transition, exit the neural primordium, and generate, among many derivatives, most of the peripheral nervous system. Subsequently, the dorsal neural tube becomes populated by definitive roof plate cells that constitute an organizing center for dorsal interneurons and guide axonal patterning. In turn, roof plate cells transform into dorsal radial glia that contributes to and shapes the formation of the dorsal ependyma of the central nervous system. To form a normal functional spinal cord, these extraordinary transitions should be tightly regulated in time and space. Thus far, the underlying cellular changes and molecular mechanisms are only beginning to be uncovered. In this review, we discuss recent results that shed light on the end of neural crest production and delamination, the early formation of the definitive roof plate, and its further maturation into radial glia. The last of these processes culminate in the formation of the dorsal ependyma, a component of the stem cell niche of the central nervous system. We highlight how similar mechanisms operate throughout these transitions, which may serve to reveal common design principles applicable to the ontogeny of epithelial tissues.","PeriodicalId":73016,"journal":{"name":"Faculty reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9523542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33503532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Recent advances in understanding and treating priapism. 理解和治疗阴茎勃起症的最新进展。

Faculty reviews Pub Date : 2022-08-26 eCollection Date: 2022-01-01 DOI: 10.12703/r/11-23

Hussain M Alnajjar, Asif Muneer

{"title":"Recent advances in understanding and treating priapism.","authors":"Hussain M Alnajjar, Asif Muneer","doi":"10.12703/r/11-23","DOIUrl":"https://doi.org/10.12703/r/11-23","url":null,"abstract":"Priapism is a rare condition that can lead to long-term erectile dysfunction if left untreated. It is one of the few urological emergencies that require prompt medical intervention. Priapism refers to a penile erection that lasts for more than 4 hours and is unrelated to sexual stimulation or orgasm. The aims of immediate intervention for ischaemic priapism are to resolve the painful erection and preserve the cavernosal smooth muscle function. The aim of this review is to evaluate the latest advances in the management of priapism. Despite the continuous challenge in providing an optimal treatment for this rare urological condition, our understanding and management of it have been advanced by decades of clinical and basic science research. Proximal shunts (Quackels or Grayhack) are no longer routinely performed. Distal shunt procedures are currently the most commonly used techniques. A novel penoscrotal decompression technique has recently been described. Ischaemic priapism can be managed conservatively in most cases with the preservation of erectile function. In cases where ischaemic priapism has persisted for more than 36 hours, the majority will develop erectile dysfunction. Early penile prosthesis with thorough patient counselling should be considered in such cases. In some cases of long-standing non-ischaemic priapism, patients can develop fibrosis within the distal corpora, and, therefore, early treatment with super-selective embolisation is required to prevent this.","PeriodicalId":73016,"journal":{"name":"Faculty reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9465841/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40366788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

AKI-to-CKD transition is a potential mechanism for non-albuminuric diabetic kidney disease. aki向ckd过渡是非蛋白尿型糖尿病肾病的潜在机制。

Faculty reviews Pub Date : 2022-07-28 eCollection Date: 2022-01-01 DOI: 10.12703/r/11-21

Kyung Lee, John Cijiang He

{"title":"AKI-to-CKD transition is a potential mechanism for non-albuminuric diabetic kidney disease.","authors":"Kyung Lee, John Cijiang He","doi":"10.12703/r/11-21","DOIUrl":"https://doi.org/10.12703/r/11-21","url":null,"abstract":"Although albuminuria development is considered the natural course of diabetic kidney disease (DKD), increasing evidence indicate that the disease can present as non-albuminuric DKD (NA-DKD), characterized by prominent tubulointerstitial injury and fibrosis without obvious glomerulopathy. However, the pathogenic mechanisms underlying NA-DKD remain unclear. As diabetic patients are more susceptible to acute kidney injury (AKI), and the maladaptive repair of kidney tubules following AKI occurs more frequently in diabetic than non-diabetic patients, the enhanced AKI-to-CKD transition may be a significant contributor of NA-DKD. Recent studies indicate that endoplasmic reticulum (ER) stress is a key pathogenic driver of AKI-to-CKD transition, and that the tubular expression of ER-resident protein reticulon 1A (RTN1A) correlates with human DKD progression and AKI-to-CKD transition. Experimental studies showed that RTN1A indeed mediates tubular cell injury and AKI-to-CKD transition in diabetic mice via concomitant activation of ER stress and mitochondrial dysfunction as a mediator of ER-mitochondrial crosstalk. Further understanding of the pathogenesis of tubular injury in DKD will help us to develop sensitive and specific biomarkers or diagnostic tools to distinguish between injury-related AKI, pre-renal AKI from hemodynamic changes, and the progression of DKD in order to better manage patients with DKD.","PeriodicalId":73016,"journal":{"name":"Faculty reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9340655/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40708526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Recent advances in the management of transient ischemic attacks. 治疗短暂性脑缺血发作的最新进展。

Faculty reviews Pub Date : 2022-07-22 eCollection Date: 2022-01-01 DOI: 10.12703/r/11-19

Jorge Ortiz-Garcia, Camilo R Gomez, Michael J Schneck, José Biller

引用次数: 0