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| http://dx.doi.org/10.18632/aging.101342 | DOI Listing |
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Whole-exome sequencing uncovers the genetic basis of hereditary concomitant exotropia in ten Chinese pedigrees.
BMC Med Genomics
January 2025
The Affiliated Hospital of Yunnan University (The Second People's Hospital of Yunnan Province), Kunming, Yunnan Province, China.
Purpose: To explore possible pathogenic genes for concomitant exotropia using whole-exome sequencing.
Methods: In this study, 47 individuals from 10 concomitant exotropia (including intermittent exotropia and constant exotropia) pedigrees were enrolled. Whole-exome sequencing was used to screen mutational profiles in 25 affected individuals and 10 unaffected individuals.
Gynecological Insights into Lynch Syndrome-A Comprehensive Review of Cancer Screening and Prevention.
Medicina (Kaunas)
December 2024
Medicine School, "Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Lynch syndrome, one of the most common genetic syndromes predisposing to cancer, is associated with a series of malignant conditions, among which the most frequent is colorectal cancer, but gynecologic cancers (especially endometrial) are also quite common. Despite the significant progress made in understanding this condition over time, there are still aspects in managing this condition that have not demonstrated clear benefits. This article aims to summarize the recommendations of international societies and present the latest developments in managing Lynch syndrome, focusing on gynecologic cancer screening and possible prevention strategies.
View Article and Find Full Text PDFAlzheimer's Disease: In Vitro and In Vivo Evidence of Activation of the Plasma Bradykinin-Forming Cascade and Implications for Therapy.
Cells
December 2024
Astria Pharmaceuticals, Boston, MA 02210, USA.
The plaques associated with Alzheimer's disease are formed as a result of the aggregation of Aβ peptides, which vary in length from 38 to 43 amino acids. The 1-40 peptide is the most abundant, while the 1-42 peptide appears to be the most destructive to neurons and/or glial cells in a variety of assays. We have demonstrated that aggregated Aβ, a state prior to plaque formation, will activate the plasma bradykinin-forming pathway when tested in vitro.
View Article and Find Full Text PDFBackground: Acquired angioedema due to C1-inhibitor deficiency (AAE-C1-INH) is very rare compared to its prototype, hereditary angioedema. An updated characterisation of the AAE-C1-INH cohort in UK is required to inform management.
Objectives: To describe the disease burden of AAE-C1-INH, long-term prophylaxis (LTP) and the clinical, immunochemical and treatment profiles of AAE-associated diseases in UK.
[Hereditary angioedema type 1, limitations for prophylactic therapy with Lanadelumab: Regarding a case].
Rev Alerg Mex
December 2024
Médica general, Facultad de Ciencias de la Salud, Universidad Militar Nueva Granada, Hospital Universitario Mayor Méderi, Colombia.
Article Synopsis
- Hereditary Angioedema (HAE) is a rare autosomal dominant disorder characterized by low levels or dysfunctional C1 inhibitor, leading to recurrent episodes of swelling and abdominal pain.
- A reported case involves a 53-year-old man with a longstanding history of recurrent edema and family history, who showed low levels of plasma proteins but faced treatment challenges despite various therapies, including a trial of Lanadelumab for prophylaxis.
- The patient's experience highlights issues in managing HAE, revealing an adverse reaction to Lanadelumab that is not commonly documented, emphasizing the need for better-informed treatment strategies.
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