- Folliculotropic Mycosis Fungoides In A Child: A Rare Case
Folliculotropic mycosis fungoides (FMF) is a variant of mycosis fungoides characterized by infiltration of hair follicle epithelium by neoplastic lymphoid cells. Generally, it is usually typified by indurated plaques and tumours mainly on the head and neck. However, a wide range of clinical signs have been noted. The clinical presentation of FMF may include prurigo-like lesions, acneiform lesions, cysts, nodules, areas of scarring alopecia, and hypopigmented plaques or papules with follicular...
- Is it possible to extend the dose interval of canakinumab treatment in children with familial Mediterranean fever? PeRA group experience
CONCLUSION: Extending treatment intervals with canakinumab in colchicine-resistant familial Mediterranean fever shows promise for favorable outcomes.
- Does switching from coated colchicine to compressed colchicine improves treatment response in patients with familial Mediterranean fever?
CONCLUSIONS: Compressed colchicine was shown to be a useful treatment option before initiating biological agents in non-responders to coated colchicine, especially those with side effects.
- Implications of combined NOD2 and other gene mutations in autoinflammatory diseases
NOD-like receptors (NLRs) are intracellular sensors associated with systemic autoinflammatory diseases (SAIDs). We investigated the largest monocentric cohort of patients with adult-onset SAIDs for coinheritance of low frequency and rare mutations in NOD2 and other autoinflammatory genes. Sixty-three patients underwent molecular testing for SAID gene panels after extensive clinical workups. Whole exome sequencing data from the large Atherosclerosis Risk in Communities (ARIC) study of individuals...
- Emerging multianalyte biosensors for the simultaneous detection of protein and nucleic acid biomarkers
Traditionally, biosensors are designed to detect one specific analyte. Nevertheless, disease progression is regulated in a highly interactive way by different classes of biomolecules like proteins and nucleic acids. Therefore, a more comprehensive analysis of biomarkers from a single sample is of utmost importance to further improve both, the accuracy of diagnosis as well as the therapeutic success. This review summarizes fundamentals like biorecognition and sensing strategies for the...
- Renal tubular and glomerular estrogen receptor ß levels are lower in lupus nephritis than in familial Mediterranean fever-associated renal amyloidosis
CONCLUSIONS: This study showed that tubular estrogen receptor ß expression score was elevated in familial Mediterranean fever amyloidosis and correlated with serum creatinine levels and renal crescents.
- French protocol for the diagnosis and management of familial Mediterranean fever
Familial Mediterranean fever is the most common monogenic auto-inflammatory disease in the world. It mainly affects people originating from the Mediterranean region. The mutated gene is MEFV, which codes for pyrin. Transmission is autosomal recessive. Patients present with recurrent attacks of fever since childhood associated with abdominal and/or thoracic pain lasting an average of 2-3days and a biological inflammatory syndrome. Other symptoms include arthralgia or arthritis in large joints...
- NLRP12-associated autoinflammatory disease: much more than the FCAS phenotype
CONCLUSIONS: In conclusion, the disease can cause effects on various tissues, especially the musculoskeletal and gastrointestinal systems, apart from FCAS symptoms. We think that a patient who can be defined as syndrome of undifferentiated recurrent fever should also be evaluated genetically in terms of NLRP12 previously.
- A corner for a hot dilemma in familial Mediterranean fever
- Recycling of discarded face masks for modification and use in SBS-modified bitumen
Since the outbreak of the COVID-19 pandemic, the discarded face masks have attracted widespread attention in society. In line with sustainable development, a physicochemical treatment method was used to recycle discarded face masks into styrene-butadiene-styrene (SBS) modified bitumen. Utilizing the highly adhesive polydopamine-polyethyleneimine (PDA-PEI) coating, it has improved the surface damage of the discarded face mask fibers (DFMF) caused by natural aging and mechanical fragmentation,...
- Concurrence of familial Mediterranean fever and Behçet's disease: a case report and review of the literature
CONCLUSIONS: Our case contributes to the growing literature demonstrating the presentation of predominantly Behçet's disease-like features in the setting of diagnosis of familial Mediterranean fever. These findings emphasize that clinicians should be aware that patients with familial Mediterranean fever may present with Behçet's disease-like clinical manifestations.
- A rare complication of IgA vasculitis: renal and intestinal ischemia successfully treated with plasmapheresis
CONCLUSIONS: Plasmapheresis seems to be an effective treatment option in IgAV-related ischemic findings that do not respond to intensive immunosuppressive therapy.
- Efficacy and safety of thalidomide in children with monogenic autoinflammatory diseases: a single-center, real-world-evidence study
CONCLUSION: The largest cohort of monogenic AIDs with the treatment of thalidomide demonstrated that thalidomide can help reduce disease activity and inflammation, reduce the dosage of glucocorticoids, and improve clinical outcomes. Thalidomide is relatively safe in monogenic AIDs.
- Drug metabolism and inflammation related distinct miRNA signature of colchicine resistant familial Mediterranean fever patients
CONCLUSION: This is the first study evaluating the role of miRNAs in colchicine resistant patients with FMF. Their differential expression may result in resistance to standard colchicine treatment by affecting the expression of genes that take place in drug absorption, distribution, metabolism, and excretion (ADME) or nuclear receptors that regulate ADME genes, thus potentially playing a role in both drug metabolism and inflammation.
- Direct deep learning-based survival prediction from pre-interventional CT prior to transcatheter aortic valve replacement
CONCLUSIONS: Direct DL-based survival prediction shows potential to improve image feature extraction compared to segmentation-based scalar markers of body composition for risk assessment in TAVR patients.
- In-depth analysis of human virus-specific CD8+ T cells delineates unique phenotypic signatures for T cell specificity prediction
Following viral infection, the human immune system generates CD8^(+) T cell responses to virus antigens that differ in specificity, abundance, and phenotype. A characterization of virus-specific T cell responses allows one to assess infection history and to understand its contribution to protective immunity. Here, we perform in-depth profiling of CD8^(+) T cells binding to CMV-, EBV-, influenza-, and SARS-CoV-2-derived antigens in peripheral blood samples from 114 healthy donors and 55 cancer...
- Ocular involvement in adult and paediatric patients with monogenic autoinflammatory diseases: a Spanish multicentre retrospective study
CONCLUSIONS: Conjunctivitis was the most common ocular manifestation in our TRAPS, FMF, MWS and HIDS patients, and uveitis predominated in Blau syndrome. Severe eye complications and poor visual prognosis were associated with uveitis. Adults with monogenic autoinflammatory diseases seem to exhibit a less severe ophthalmologic presentation than paediatric patients.
- Familial Mediterranean fever and microRNAs
Familial Mediterranean fever (FMF) is an inherited disorder caused by the gain of function mutations in MEFV (MEditerranean FeVer) gene loci. FMF affects more than 100,000 people worldwide and generally seen in the eastern Mediterranean region and causes the lifelong diseases which have a significant effect on the patient's life quality and health systems. The identification of low penetrant or heterozygous MEFV gene mutations in clinically diagnosed FMF patients was considered that epigenetic...
- Macrophage activation syndrome induced by Staphylococcus Epidermidis in a pediatric patient with cystic fibrosis and familial Mediterranean fever
Staphylococcus epidermidis (S. epidermidis) is the most frequently isolated member of the coagulase-negative staphylococci, which colonizes the skin and mucous membranes of the human body. Despite being a component of the normal flora, S. epidermidis can act as an opportunistic pathogen and is frequently implicated in both bacterial and nosocomial infections. Macrophage activation syndrome (MAS) is a rare but potentially fatal disease that occurs as a result of increased activation and...
- First-Trimester Screening Program for the Risk of Pre-eclampsia Using a Multiple-Marker Algorithm: A Health Technology Assessment
CONCLUSIONS: The FMF-based screening program is likely more effective than standard care in reducing the risk of pre-eclampsia with delivery at less than 37 weeks' gestation. Also, the FMF algorithm can improve the detection rate of pre-eclampsia with delivery at less than 37 weeks' gestation or at less than 34 weeks' gestation when compared with conventional algorithms. The population-wide FMF-based screening program is more effective and more costly than standard care. We estimate that...
Research: The Latestdeveloper2019-09-06T20:28:21+00:00