A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid

ConclusionWe identified a large fragment deletion mutation inPLS3 for the first time and elucidated the possible mechanism of the deletion, which led to X-linked early-onset osteoporosis and multiple vertebral fractures. Our findings would enrich the etiology spectrum of this rare disease.
Source: Osteoporosis International - Category: Orthopaedics Source Type: research

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CONCLUSION: This case illustrates the severity of iatrogenic effects secondary to misuse of topical corticosteroids in NS as well as the need to find effective new treatments for this syndrome. PMID: 31653452 [PubMed - as supplied by publisher]
Source: Annales de Dermatologie et de Cenereologie - Category: Dermatology Authors: Tags: Ann Dermatol Venereol Source Type: research
Discussion of Developmental Effects on Aging Microtubule Function and Longevity in Nematodes Quantifying the Correlation Between Poverty and Faster Pace of Aging Matthew O'Connor Presenting on Underdog Pharmaceuticals at Undoing Aging 2019 https://www.fightaging.org/archives/2019/09/matthew-oconnor-presenting-on-underdog-pharmaceuticals-at-undoing-aging-2019/ Here Matthew O'Connor of the SENS Research Foundation talks about the research that led to founding of Underdog Pharmaceuticals, a biotech startup incubated by the foundation to commercialize a means of targeting 7-ketocholesterol in atheroscleros...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
AbstractPurpose of ReviewTo review the differential diagnosis of low bone mineral density (BMD).Recent FindingsOsteoporosis is the most common cause of low BMD in adults; however, non-osteoporotic causes of low BMD should be considered in the differential diagnosis of patients with low BMD. Mild osteogenesis imperfecta, osteomalacia, and mineral and bone disorder of chronic kidney disease as well as several other rare diseases can be characterized by low BMD.SummaryThis review summarizes the differential diagnosis of low BMD. It is important to differentiate osteoporosis from other causes of low BMD since treatment regimen...
Source: Current Osteoporosis Reports - Category: Orthopaedics Source Type: research
Abstract Mastocytosis is a rare disease in which heightened amounts of mast cells accumulate in the skin, bone marrow, and other visceral organs. Upon activation, mast cells release a wide variety of preformed or newly synthesized mediators which can induce allergic symptoms and inflammatory reactions. Mastocytosis is diagnosed by biopsy and can be divided into cutaneous and systemic mastocytosis (SM). The first one affects the skin and is relatively benign, whilst SM, which involves bone marrow and other organs, may be aggressive and associate with both myelodisplastic and myeloproliferative diseases. Here we pre...
Source: Medicina (Kaunas) - Category: Universities & Medical Training Authors: Tags: Medicina (Kaunas) Source Type: research
After publication of this article [1], it is noticed reference no. 17 was incorrectly provided, details are shown below.
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Correction Source Type: research
Conclusion Figure 4 shows that the 27 different molecular defects within the ALB so far reported to cause CAA are located in ten different exons (1, 3, 4, 5, 7, 8, 9, 10, 11, and 12) and in seven different introns (1, 2, 3, 6, 10, 11, and 12) (The Albumin Website, 2018; Caridi et al., 2019). Variations in the last two coding exons (13 and 14) would probably cause the presence of a circulating C-terminal variant of the protein and not CAA. The first twelve exons of ALB, with the exception of the two shortest, exons 2 and 6, were reported to contain at least one molecular defect resulting in CAA (The Albumin Website, 2018; ...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
CONCLUSIONS: Bone marrow aspirates from patients with SM had activated mast cells and eosinophils that displayed robust expression of Siglec-8. AK002 demonstrated SM mast cell inhibition in ex vivo bone marrow aspirates. AK002 also had depleting effects on eosinophils, which may be valuable to SM patients with associated eosinophilia. These encouraging results could represent a novel approach for the treatment of SM.DisclosuresYoungblood: Allakos, Inc.: Employment. Brock: Allakos, Inc.: Employment. Leung: Allakos, Inc.: Employment. Chang: Allakos, Inc.: Employment. Bebbington: Allakos, Inc.: Employment. Tomasevic: Allakos, Inc.: Employment.
Source: Blood - Category: Hematology Authors: Tags: 201. Granulocytes, Monocytes, and Macrophages: Poster I Source Type: research
Conclusion: Systemic Mastocytosis is a rare disease with variable manifestations and outcome. Nowadays, several therapeutic modalities are available for effective disease management over time. Novel targeted therapies seem to be promising to further improve the outcome, but still early and accurate diagnosis, in accordance to WHO classification, remains important.Table 1.DisclosuresGavriilaki: European Hematology Association: Research Funding. Terpos: Amgen: Honoraria, Membership on an entity's Board of Directors or advisory committees, Other: Travel Grant, Research Funding; Janssen: Honoraria, Membership on an entity's Bo...
Source: Blood - Category: Hematology Authors: Tags: 634. Myeloproliferative Syndromes: Clinical Source Type: research
In this report, we propose that the molecular mechanisms of beneficial actions of CR should be classified and discussed according to whether they operate under rich or insufficient energy resource conditions. Future studies of the molecular mechanisms of the beneficial actions of CR should also consider the extent to which the signals/factors involved contribute to the anti-oxidative, anti-inflammatory, anti-tumor and other CR actions in each tissue or organ, and thereby lead to anti-aging and prolongevity. RNA Interference of ATP Synthase Subunits Slows Aging in Nematodes https://www.fightaging.org/archives/...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
This article, unfortunately paywalled, is interesting to note as a mark of the now increasingly energetic expansion of commercial efforts in longevity science. David Sinclair has been building a private equity company to work in many areas relevant to this present generation of commercial longevity science; while I'm not sold on his primary research interests as the basis for meaningful treatments for aging, he is diversifying considerably here, including into senolytics, the clearance of senescent cells demonstrated to produce rejuvenation in animal studies. This sort of approach to business mixes aspects of investing and...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
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