Biochemical analysis of skin samples revealed that the content of type III collagen was greatly reduced in several subjects with joint hypermobility, stretchability and bruisability of skin. When cultured dermal fibroblasts were found to secrete decreased amounts of type III procollagen into medium (about 30-45% the normal amount) and serum type III procollagen aminopropeptide levels were significantly lower than normal values (P less than 0.001). The abnormalities in type III procollagen are in keeping with Ehlers-Danlos type IV although the clinical findings in our patients are not normally associated with this disorder. The results illustrate the clinical heterogeneity of Ehlers-Danlos type IV and the importance of biochemical analysis, such as determination of type III procollagen aminopropeptide levels, to check type III collagen metabolism especially if there is no family history and if correct diagnosis is not reliable by clinical examination alone.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1365-2362.1989.tb00242.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
SnRK2 kinases sense molecular crowding and form condensates to disrupt ABI1 inhibition.
Sci Adv
January 2025
Key Laboratory of Plant Carbon Capture, Shanghai Center for Plant Stress Biology, CAS Center for Excellence in Molecular Plant Sciences, Chinese Academy of Sciences, Shanghai 200032, China.
Plants sense and respond to hyperosmotic stress via quick activation of sucrose nonfermenting 1-related protein kinase 2 (SnRK2). Under unstressed conditions, the protein phosphatase type 2C (PP2C) in clade A interact with and inhibit SnRK2s in subgroup III, which are released from the PP2C inhibition via pyrabactin resistance 1-like (PYL) abscisic acid receptors. However, how SnRK2s are released under osmotic stress is unclear.
View Article and Find Full Text PDFOcular Safety and Toxicology of Subretinal Gene Therapy With rAAV.hPDE6A in Nonhuman Primates.
Transl Vis Sci Technol
January 2025
STZ eyetrial at the Centre for Ophthalmology, Tuebingen, Germany.
Purpose: Reports of gene therapy-associated retinal atrophies and inflammation have highlighted the importance of preclinical safety assessments of adeno-associated virus (AAV) vector systems. We evaluated in nonhuman primates (NHPs) the ocular safety and toxicology of a novel AAV gene therapy targeting retinitis pigmentosa caused by mutations in PDE6A, which has since been used in a phase I/II clinical trial (NCT04611503).
Methods: A total of 34 healthy cynomolgus animals (Macaca fascicularis) were treated with subretinal injections of rAAV.
VopX, a novel T3SS effector, modulates host actin dynamics.
mBio
January 2025
Department of Microbiology and Immunology, University of Rochester Medical Center, Rochester, New York, USA.
Unlabelled: Pathogenic strains cause cholera using different mechanisms. O1 and O139 serogroup strains use the toxin-co-regulated pilus (TCP) and cholera toxin (CT) for intestinal colonization and to promote secretory diarrhea, while non-O1/non-O139 serogroup strains are typically non-toxigenic and use alternate virulence factors to cause a clinically similar disease. An O39 serogroup, TCP/CT-negative strain, named AM-19226, uses a type III secretion system (T3SS) to translocate more than 10 effector proteins into the host cell cytosol.
View Article and Find Full Text PDFLiquid biopsy for diagnosing epithelial ovarian cancer: quantification of cell-free DNA and p53 mutational analysis.
Int J Gynecol Cancer
January 2025
All India Institute of Medical Sciences, Department of Obstetrics and Gynecology (Gynecologic Oncology), Rishikesh, Uttarakhand, India. Electronic address:
Objective: To isolate and quantify cell-free DNA, analysis for p53 mutations, and correlation with tumor burden in women with epithelial ovarian cancer compared with benign and borderline epithelial ovarian tumors.
Methods: In this case-control study, plasma samples of eligible women collected 1 hour before surgery and based on final histopathology, women with epithelial ovarian cancer recruited as cases and borderline, and benign ovarian tumors as controls. Cell-free DNA extracted from plasma serum and quantified using Nanodrop Spectrophotometer.
Thigh Injections of Cabotegravir + Rilpivirine in Virally Suppressed Adults With Human Immunodeficiency Virus Type 1: A Substudy of the Phase 3b ATLAS-2M Study.
Clin Infect Dis
January 2025
ViiV Healthcare, Durham, North Carolina, USA.
Article Synopsis
- CAB + RPV is the first long-acting HIV treatment regimen using thigh injections, showing promising results in maintaining viral suppression.
- The study involved 118 participants and compared pharmacokinetic changes and tolerability between thigh and gluteal injections, finding no significant differences in effectiveness.
- Results indicated that a majority of participants preferred thigh injections, with potential plans for more flexible dosing schedules to enhance treatment convenience.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!