The influence of genotype on disease severity and concomitant diseases in familial Mediterranean fever patients.

The influence of genotype on disease severity and concomitant diseases in familial Mediterranean fever patients. Clin Exp Rheumatol. 2019 Oct 10; Authors: Aktaş A, Karadavut M, Cansu DÜ, Korkmaz C Abstract OBJECTIVES: To evaluate differences between the patients with familial Mediterranean fever (FMF) with homozygous (Hom), heterozygous (Het) and compound heterozygous (cHet) MEFV mutations in terms of clinical features and severity of the disease, as well as frequency of concomitant disorders, without focusing on Exon 10 mutations. METHODS: The patients with FMF were diagnosed using the Tel-Hashomer diagnostic criteria. The presence of MEFV mutations was investigated in exons 2,3,5 and 10 by multiplex-PCR reverse hybridisation method. All the patients were questioned for the presence of concurrent disorders, and the medical records of these patients were revised retrospectively. RESULTS: 259 unrelated patients (female: 143, male: 116; mean age: 33.5±12 years) were included in this study. Hom and Het mutations were found in 79 (31.9%) and 88 (35.6%) patients with FMF, respectively. cHet mutations were found in 68 (27.5%) FMF patients. Early onset and early diagnosis of FMF were found in Hom group compared to Het and compound Het groups. The number of the patients with a higher severity score was significantly higher in Hom group (n=40, 50.6%) than Het (n=12, 13.6%) and cHet groups (n=10, 14.7%), (p
Source: Clinical and Experimental Rheumatology - Category: Rheumatology Tags: Clin Exp Rheumatol Source Type: research

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AbstractPurpose of reviewTransthyretin amyloid cardiomyopathy (ATTR-CM) is a disease with high morbidity and mortality. This disease is significantly underdiagnosed and is more common than previously appreciated, particularly among older adults and people of African descent. This review discusses recent advances in the diagnosis and treatment for ATTR-CM.Recent findingsHistorically, ATTR-CM was diagnosed via endomyocardial biopsy, a resource-intensive and invasive approach. However, in most cases, ATTR-CM can now be diagnosed non-invasively using bone tracer cardiac scintigraphy, which may facilitate earlier diagnosis. In ...
Source: Current Treatment Options in Cardiovascular Medicine - Category: Cardiology Source Type: research
In this study, we investigate whether the amyloidogenic ability of TTR and its antiamyloid inhibitory effect are associated. Using protein aggregation and cytotoxicity assays, we found that the dissociation of the TTR tetramer, required for its amyloid pathogenesis, is also necessary to prevent cellular toxicity from Aβ oligomers. These findings suggest that the Aβ-binding site of TTR may be hidden in its tetrameric form. Aided by computational docking and peptide screening, we identified a TTR segment that is capable of altering Aβ aggregation and toxicity, mimicking TTR cellular protection. EM, immune dete...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Molecular Bases of Disease Source Type: research
The diagnostic accuracy of histopathological detection of transthyretin amyloid (ATTR) by Congo red staining of abdominal fat samples has been questioned since low sensitivity has been reported, especially for...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
(University of Tennessee Health Science Center) Jonathan Wall, PhD, professor in the University of Tennessee Health Science Center's Graduate School of Medicine in Knoxville and director of the Amyloidosis and Cancer Theranostics, has been awarded a two-year grant totaling $385,000 from the National Institute on Aging, part of the National Institutes of Health to study new treatments for systemic amyloidosis.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Colon perforations are rare in MM and here we report characteristics and clinical outcomes of 30 patients that were treated at Mayo Clinic. We believe that steroids are the precipitating factor. AbstractGastrointestinal complications of multiple myeloma (MM) treatment are common and include nausea, constipation, and diarrhea. However, acute gastrointestinal events like perforations are rare. We aimed to describe the characteristics and outcomes of patients with MM that had colonic perforations during their treatment. This is a retrospective study that included patients from all three Mayo Clinic sites who had MM and develo...
Source: Cancer Medicine - Category: Cancer & Oncology Authors: Tags: ORIGINAL RESEARCH Source Type: research
After the first description of amyloid infiltration in 1842 by Rokitansky, the chemical composition and pathogenesis of amyloid deposits became a matter of a heated dispute. Extensive evidence of a significant association between “primary” amyloidosis and myeloma-type proteins, particularly Bence Jones proteins, has been provided by the observations of my mentor, Elliott Osserman, in a seminal paper in 1964.1 The strongest evidence for the immunoglobulin origin of amyloid fibrils has come with the determination of the am ino acid sequence of 2 amyloid fibril proteins by George Glenner in 1971.
Source: Hematology/Oncology Clinics of North America - Category: Cancer & Oncology Authors: Source Type: research
ConclusionAlthough protein-independent binding is supported by our results, the diagnostic yield of PET was low. We demonstrate here for the first time the low sensitivity of PET for CA.
Source: Journal of Nuclear Cardiology - Category: Nuclear Medicine Source Type: research
Systemic amyloidosis remains a challenging diagnosis, but over the past several years, due to an increase in awareness and therapeutic advances, more cases are being identified. There are numerous types of systemic amyloidosis, defined by the protein that comprises the amyloid fibrils, with at least 13 types known to potentially involve the heart (Table1-3;). The two most common forms are transthyretin-associated (ATTR) and immunoglobulin light chain-associated amyloidosis (AL). These disorders contribute to the vast majority of cardiac amyloid diagnoses.
Source: Journal of Cardiac Failure - Category: Cardiology Authors: Source Type: research
Publication date: Available online 3 October 2020Source: Hematology/Oncology Clinics of North AmericaAuthor(s): Amandeep Godara, Giovanni Palladini
Source: Hematology Oncology Clinics of North America - Category: Hematology Source Type: research
We present not ‐yet‐seen multimodal images of a 55‐year‐old female patient with isolated atrial amyloidosis (IAA) who clinically suffered from multiple atrial arrhythmias and heart failure symptoms with preserved left ventricular ejection fraction. We aim to show structural and functional abnormalities det ected by electrophysiological voltage mapping, cardiac magnetic resonance imaging (MRI) [cMRI; atrial strain measurements, late gadolinium enhancement (LGE) visualization], and99mTc ‐DPD scintigraphy. Bipolar voltage mapping performed during two electrophysiological procedures showed diffuse left atrial low‐v...
Source: ESC Heart Failure - Category: Cardiology Authors: Tags: Case Report Source Type: research
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