The majority of mastocytosis cases are characterized by an activating mutation in the KIT gene in codon 816. The detection of this alteration is of importance for proper diagnostic workup. Therefore, reliable and sensitive methods for the detection of KIT Codon 816 hotspot mutations in various types of patient samples are required. Since mutated cancer genes are often overexpressed, we evaluated the feasibility and sensitivity of KIT p.D816V detection by analysing mRNA/cDNA instead of genomic DNA. From 80 bone marrow trephines harboring a KIT p.D816 mutation, seven were only mutated by mRNA/cDNA pyrosequencing and 11 only by digital PCR analysis of genomic DNA. These results clearly demonstrate that detection of clinically relevant mutations in mRNA extracted from routinely processed decalcified archival bone marrow trephines is not only possible in a reliable fashion but under many circumstances advantageous. This enables the direct correlation of genomic data with high-quality morphological evaluation.
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http://dx.doi.org/10.1007/s00428-024-03973-8 | DOI Listing |
J Foot Ankle Surg
December 2024
Fellowship-Trained, Board Certified Foot and Ankle Surgeon; Orthopedic Foot and Ankle Center, 350 W. Wilson Bridge Rd, Ste. 200, Worthington, OH 43085.
Plantar heel pain is a prevalent condition affecting 10% of the population, with plantar fasciitis being the most common cause. Plantar calcaneal spurs are frequently associated with plantar fasciitis, yet their role in the condition and surgical outcomes remains unclear. This study investigates the impact of plantar calcaneal spur excision on the outcomes of plantar fascia surgery, utilizing a radiofrequency microtenotomy and bone marrow aspiration technique.
View Article and Find Full Text PDFOcul Surf
December 2024
Department of Prof. Cochereau, A. De Rothschild Foundation Hospital, Paris, France. Electronic address:
Purpose: Graft-versus-host disease (GVHD) is a common complication after allogeneic hematopoietic stem cell transplantation (allo-HSCT). GVHD may affect several organs, including ocular manifestations, ranging from dry eye syndrome to sight-threatening corneal ulceration or perforation. Limited information is available about characteristics and treatments of ocular GVHD and its relation to general prognosis.
View Article and Find Full Text PDFArthroscopy
December 2024
Department of Orthopaedic Surgery, Arthroscopy and Joint Research Institute, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. Electronic address:
Purpose: This study aimed to compare clinical outcomes and re-tear rates of medium-sized rotator cuff tears repaired with incomplete footprint coverage using the transosseous-equivalent technique versus those with complete footprint coverage plus bone marrow stimulation.
Methods: The retrospective study, conducted from March 2019 to December 2021, included consecutive patients with medium-sized (1-3cm) posterosuperior rotator cuff tears repaired using the transosseous-equivalent technique and bone marrow stimulation, with a minimum follow-up of 2 years. Patients were divided into two groups based on the degree of footprint coverage achieved: Group C (complete coverage) and Group I (incomplete coverage).
Biochem Pharmacol
December 2024
Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Shenzhen University Medical School, Shenzhen University, Shenzhen 518055, China. Electronic address:
Activation of immunoglobulin E (IgE)-associated mast cells (MCs) triggers the onset of pro-inflammatory signals associated with type I allergic diseases. Although histone acetylation changes have been associated with inflammatory diseases, the impact of lysine-acetyltransferase (KAT) inhibitors on IgE-mediated MCs function is unclear. Potential anti-allergic effects of the KAT6A inhibitor WM-1119 on IgE-mediated MCs activation and allergic inflammation were examined in this study.
View Article and Find Full Text PDFMol Cell
December 2024
Drukier Institute for Children's Health, Department of Pediatrics, Weill Cornell Medicine, New York, NY, USA. Electronic address:
The efficacy of antibody responses is inherently linked to paratope diversity, as generated through V(D)J recombination and somatic hypermutation. Despite this, it is unclear how genetic diversification mechanisms evolved alongside codon optimality and affect antibody expression. Here, we analyze germline immunoglobulin (IG) genes, natural V(D)J repertoires, serum IgG, and monoclonal antibody (mAb) expression through the lens of codon optimality.
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