- Multifactorial Rare Diseases: Can Uncertainty Analysis Bring Added Value to the Search for Risk Factors and Etiopathogenesis?
Uncertainty analysis is the process of identifying limitations in knowledge and evaluating their implications for scientific conclusions. Uncertainty analysis is a stable component of risk assessment and is increasingly used in decision making on complex health issues. Uncertainties should be identified in a structured way and prioritized according to their likely impact on the outcome of scientific conclusions. Uncertainty is inherent to the rare diseases (RD) area, where research and...
- Postoperative outcomes of free myocutaneous flap and pedicled myocutaneous flap for reconstruction in locally invasive thyroid carcinoma
Locally invasive thyroid carcinoma (TC) often involves trachea. In such patients, the trachea needs to be reconstructed after surgery. We discuss the postoperative outcome and complications after trachea reconstruction by free myocutaneous flap (FMF) and pedicled myocutaneous flap (PMF).From January 2009 to September 2019, the clinical data of 38 patients with TC were retrospectively analyzed. Demographics, pathologic results, neoplasm staging, surgical protocol, decannulation, subjective speech...
- The role of endothelium-derived hyperpolarizing factor in children with familial mediterranean fever
CONCLUSION: Low levels of endothelium-derived hyperpolarizing factor, high levels C-reactive protein and high blood pressure in patients with familial Mediterranean fever can be attributed to the changes in the endothelium resulting from subacute inflammation.
- Pandemic-Driven Development of a Medical-Grade, Economic and Decentralized Applicable Polyolefin Filament for Additive Fused Filament Fabrication
A polyolefin with certified biocompatibility according to USP class VI was used by our group as feedstock for filament-based 3D printing to meet the highest medical standards in order to print personal protective equipment for our university hospital during the ongoing pandemic. Besides the chemical resistance and durability, as well as the ability to withstand steam sterilization, this polypropylene (PP) copolymer is characterized by its high purity, as achieved by highly efficient and...
- The possession of exon 2 or exon 3 variants in the MEFV gene promotes inflammasome activation in Japanese patients with familial Mediterranean fever with a heterozygous exon 10 mutation
CONCLUSIONS: Our results suggested that coexistence of MEFV exon 2 variants have additional effects on manifestations of FMF with MEFV exon 10 mutations. Our findings highlighted the modifications and pathogenesis of such MEFV variants in FMF.
- Is the country of living important in the phenotypic expression of E148Q mutation? The Armenian experience
- First report of MEFV gene duplication in a patient with familial Mediterranean fever
- Attacks of TNF-receptor associated periodic syndrome are associated with higher inflammatory markers than familial Mediterranean fever
- SAMMY-seq reveals early alteration of heterochromatin and deregulation of bivalent genes in Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford progeria syndrome is a genetic disease caused by an aberrant form of Lamin A resulting in chromatin structure disruption, in particular by interfering with lamina associated domains. Early molecular alterations involved in chromatin remodeling have not been identified thus far. Here, we present SAMMY-seq, a high-throughput sequencing-based method for genome-wide characterization of heterochromatin dynamics. Using SAMMY-seq, we detect early stage alterations of heterochromatin...
- Chronic non-bacterial osteomyelitis: another disease associated with MEFV gene mutations
CONCLUSIONS: Our results demonstrated an increased frequency of MEFV gene mutations in CNO and a more severe disease phenotype of CNO in patients with MEFV gene mutations. Physicians practicing in regions where FMF is prevalent should be aware of this relationship and ask about the symptoms of FMF in detail in patients with CNO. Moreover, FMF should be included in CNO-associated conditions.
- Triggering factors for febrile attacks in Japanese patients with familial Mediterranean fever
CONCLUSIONS: Gaining an understanding of these triggering factors could help to reduce attacks and educate the patients. Clinicians may need to consider FMF for patients who have fever and serositis that occurs with every menstrual period.
- Rivaroxaban in Patients with Atrial Fibrillation and a Bioprosthetic Mitral Valve
CONCLUSIONS: In patients with atrial fibrillation and a bioprosthetic mitral valve, rivaroxaban was noninferior to warfarin with respect to the mean time until the primary outcome of death, major cardiovascular events, or major bleeding at 12 months. (Funded by PROADI-SUS and Bayer; RIVER ClinicalTrials.gov number, NCT02303795.).
- Erysipelas-like erythema in children with familial Mediterranean fever
CONCLUSIONS: ELE is an uncommon but important feature of FMF. In patients with ELE, arthritis is more frequently encountered, and M694V homozygous mutation is more frequently found. FMF patients with ELE have more severe disease activity, and they use higher doses of colchicine in relation to this severe disease course.
- Succinivibrionaceae is dominant family in fecal microbiota of Behçet's Syndrome patients with uveitis
Behçet's Syndrome (BS) is a multisystem vasculitis with various clinical manifestations. Pathogenesis is unclear, but studies have shown genetic factors, innate immunity and autoinflammation to have an important role in the disease course. Diversity in the microbial community of gut microbiota may significantly contribute to the activation of the innate immune system. The clinical features of BS present themselves in clusters and each cluster may be a consequence of different disease mechanisms....
- Comment on: Successful hydroxychloroquine treatment for familial Mediterranean fever in a Japanese patient with concurrent systemic lupus erythematosus: reply
- Familial Mediterranean Fever and COVID-19: Friends or Foes?
Familial Mediterranean Fever (FMF) and COVID-19 show a remarkable overlap of clinical symptoms and similar laboratory findings. Both are characterized by fever, abdominal/chest pain, elevation of C-reactive protein, and leukocytosis. In addition, colchicine and IL-1 inhibitors treatments that are effective in controlling inflammation in FMF patients have recently been proposed for off-label use in COVID-19 patients. Thus, FMF may resemble a milder recapitulation of the cytokine storm that is a...
- Genetics and the axial spondyloarthritis spectrum
The axial SpAs (axSpAs) are clearly clinically a heterogeneous set of diseases with markedly varying extra-articular features. These diseases are all highly heritable and have overlapping but differing genetic origins. Shared features include association with HLA class I alleles and genes of the IL-23 pathway, among other things. Significant differences do exist however, both in the genetic loci involved and at specific loci in the individual genetic variants associated with each disease. These...
- Fast diagnostic test for familial Mediterranean fever based on a kinase inhibitor
CONCLUSIONS: UCN-01-based inflammasome assays could be used to rapidly diagnose FMF, with high sensitivity and specificity.
- Next-generation sequencing of the whole MEFV gene in Japanese patients with familial Mediterranean fever: a case-control association study
CONCLUSIONS: rs28940578 is associated with the highest risk in typical FMF cases. This is consistent with results from previous studies in Japan. We found a novel MEFV gene haplotype that confers susceptibility of FMF among typical FMF without the rs28940578 mutation. There were no relevant SNVs identified in MEFV among the atypical FMF group.
- Burden of illness in hereditary periodic fevers: a multinational observational patient diary study
CONCLUSIONS: crFMF, MKD/HIDS and TRAPS negatively affected the quality of life (QoL) of adult and paediatric patients, including their physical, mental, psychosocial health, and social functioning. There remains, however, a high number of unmet needs for these patients to reduce their disease burden.
Research: The Latestdeveloper2019-09-06T20:28:21+00:00