- Neutrophil-to-lymphocyte ratios in pregnant women with familial mediterranean fever
CONCLUSIONS: The NLRs are a haematological parameter that can be used to predict subclinical inflammation and the effects of ongoing subclinical inflammation on the pregnancy outcomes in women with FMF (Tab. 4, Ref. 39).
- COVID-19 in patients with familial Mediterranean fever treated with colchicine: case based review
Coronavirus disease 2019 (COVID-19) refers to the clinical picture of an important and severe infectious disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Considering the current knowledge on the pathophysiology and clinical manifestations of COVID-19, it is safe to state that both COVID-19 and inflammatory rheumatic disorders cause a cytokine storm and merit treatment with anti-rheumatic drugs. Three patients, who were on regular follow-up due to the diagnosis of...
- COVID-19 outcomes in patients with familial Mediterranean fever: a retrospective cohort study
Aim of this study is to investigate the course of coronavirus disease 2019 (COVID-19), in our cohort of familial Mediterranean fever (FMF) patients in means of mortality, admission to hospital and/or intensive care unit and length of hospital stay.A retrospective cohort was formed from patients who have previously been followed with a diagnosis of FMF. Patients of this cohort were retrospectively evaluated for a positive severe acute respiratory syndrome-coronavirus 2 (SARS-CoV 2) polymerized...
- 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...
- Understanding global changes in fine-mode aerosols during 2008-2017 using statistical methods and deep learning approach
Despite their extremely small size, fine-mode aerosols have significant impacts on the environment, climate, and human health. However, current understandings of global changes in fine-mode aerosols are limited. In this study, we employed newly developed satellite retrieval data and an attentive interpretable deep learning model to explore the status, changes, and association factors of the global fine-mode aerosol optical depth (fAOD) and aerosol fine-mode fraction (FMF) from 2008 to 2017. At...
- 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...
- DALIA- a comprehensive resource of Disease Alleles in Arab population
The Arab population encompasses over 420 million people characterized by genetic admixture and a consequent rich genetic diversity. A number of genetic diseases have been reported for the first time from the population. Additionally a high prevalence of some genetic diseases including autosomal recessive disorders such as hemoglobinopathies and familial mediterranean fever have been found in the population and across the region. There is a paucity of databases cataloguing genetic variants of...
- 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.
- Expanded Carrier Screening and the Complexity of Implementation
Advances in genetic technology have allowed for the development of multiplex panels that can test for hundreds of genetic disorders at the same time; these large panels are referred to as expanded carrier screening. This process can screen couples for far more conditions than the gene-by-gene approach used with traditional carrier screening; however, although expanded carrier screening has been promoted as an efficient means of detecting many more disorders, the complexities of genetic...
- Differences of the tumour cell glycocalyx affect binding of capsaicin-loaded chitosan nanocapsules
The glycocalyx regulates the interaction of mammalian cells with extracellular molecules, such as cytokines. However, it is unknown to which extend the glycocalyx of distinct cancer cells control the binding and uptake of nanoparticles. In the present study, exome sequencing data of cancer patients and analysis of distinct melanoma and bladder cancer cell lines suggested differences in cancer cell-exposed glycocalyx components such as heparan sulphate. Our data indicate that glycocalyx...
- CT fatty muscle fraction as a new parameter for muscle quality assessment predicts outcome in venovenous extracorporeal membrane oxygenation
Impaired skeletal muscle quality is a major risk factor for adverse outcomes in acute respiratory failure. However, conventional methods for skeletal muscle assessment are inapplicable in the critical care setting. This study aimed to determine the prognostic value of computed tomography (CT) fatty muscle fraction (FMF) as a biomarker of muscle quality in patients undergoing extracorporeal membrane oxygenation (ECMO). To calculate FMF, paraspinal skeletal muscle area was obtained from clinical...
- 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...
- 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
- 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.
- 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.
- Prescription of interleukin-1 inhibitors in a French adult cohort of familial Mediterranean fever
- 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.
Research: The Latestdeveloper2019-09-06T20:28:21+00:00