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1.
FASEB J ; 37(1): e22700, 2023 01.
Article in English | MEDLINE | ID: mdl-36515677

ABSTRACT

Chicken amyloid arthropathy is a debilitating disease with a major impact on animal welfare. Since the disease is triggered by bacterial infection, preventative treatment also contributes to the widespread overuse of antibiotics. Bacterial infection initiates an acute phase response including increased serum amyloid A (SAA) production by the liver. SAA accumulates at sites of infection and in particular in large joints of affected birds. Interestingly, white egg-laying chickens (WL) are resistant to the disease whilst brown egg-laying chickens (BL) are most affected. Disease susceptibility has an immunological basis but the possible contribution of underlying genetic risk factors is not understood. Using a whole genome sequencing approach, we discovered a novel variant in the SAA gene in WL, which is predicted to result in an arginine to serine substitution at position 90 (SAA.R90S). Surprisingly, when overexpressed in chicken hepatocellular carcinoma cells, SAA.R90S was expressed at a higher rate and secreted to a greater degree than the wild-type SAA protein. Moreover, RNASeq analysis showed that the R90S mutant exerted a differential effect on the expression of core transcription factors linked to cell fate determination and cell differentiation. Comparative analysis of gene expression in murine CD4 T-cells stimulated with IL-6/SAA, suggests that SAA.R90S might block an induced cell fate change toward pro-inflammatory T helper 17 cells, which are required for immunological protection against pathogenic bacteria during an acute phase response. Our results provide first mechanistic insights into the genetic resistance of WL to amyloid arthropathy and could be applied to commercial layer breeding programs to improve animal welfare and reduce the negative effects of the overuse of antibiotics.


Subject(s)
Amyloidosis , Osteoarthritis , Poultry Diseases , Animals , Mice , Serum Amyloid A Protein/genetics , Serum Amyloid A Protein/metabolism , Chickens/metabolism , Poultry Diseases/genetics , Poultry Diseases/metabolism , Acute-Phase Reaction/complications , Amyloidosis/genetics , Mutation , Anti-Bacterial Agents/pharmacology
2.
Diagnostics (Basel) ; 12(1)2022 Jan 05.
Article in English | MEDLINE | ID: mdl-35054280

ABSTRACT

We report a case of dialysis-related amyloid arthropathy in a patient with end-stage renal disease. It presented in our patient as moderately increased FDG uptake in the amyloid deposition in the periarticular tissues and eroding into adjacent bones.

3.
J Int Med Res ; 49(1): 300060520982844, 2021 Jan.
Article in English | MEDLINE | ID: mdl-33467968

ABSTRACT

A number of patients with multiple myeloma (MM) have joint lesions with the main feature of amyloidosis or tumor cell infiltration. We report a case of MM that presented as synovial fibrinoid necrosis. The rarity of this condition and the difficulty diagnosing the disease are discussed. In addition, we discussed the characteristics of amyloid arthropathy and the findings in this case.


Subject(s)
Amyloidosis , Multiple Myeloma , Humans , Multiple Myeloma/diagnostic imaging , Multiple Myeloma/drug therapy , Necrosis
4.
Hematol Oncol Clin North Am ; 34(6): 1099-1113, 2020 12.
Article in English | MEDLINE | ID: mdl-33099427

ABSTRACT

Clinical features of soft tissue amyloid light-chain (AL) amyloidosis include macroglossia, arthropathy, muscle pseudohypertrophy, skin plaques, and carpal tunnel syndrome. Vascular manifestations of AL amyloid include periorbital ecchymosis, jaw or limb claudication, and even myocardial infarction caused by occlusion of small vessel coronary arteries. Some of these features, such as macroglossia, periorbital ecchymosis, and the so-called shoulder-pad sign, are pathognomonic for AL amyloidosis. These findings may be the initial presenting features of the disease, and the recognition of these red flag symptoms is very important for the diagnosis and early intervention on the underlying plasma cell disease.


Subject(s)
Antibodies, Monoclonal/metabolism , Carpal Tunnel Syndrome , Coronary Artery Disease , Ecchymosis , Immunoglobulin Light Chains/metabolism , Immunoglobulin Light-chain Amyloidosis , Macroglossia , Carpal Tunnel Syndrome/etiology , Carpal Tunnel Syndrome/metabolism , Carpal Tunnel Syndrome/pathology , Carpal Tunnel Syndrome/therapy , Coronary Artery Disease/etiology , Coronary Artery Disease/metabolism , Coronary Artery Disease/pathology , Coronary Artery Disease/therapy , Ecchymosis/etiology , Ecchymosis/metabolism , Ecchymosis/pathology , Ecchymosis/therapy , Humans , Immunoglobulin Light-chain Amyloidosis/complications , Immunoglobulin Light-chain Amyloidosis/metabolism , Immunoglobulin Light-chain Amyloidosis/pathology , Immunoglobulin Light-chain Amyloidosis/therapy , Macroglossia/etiology , Macroglossia/metabolism , Macroglossia/pathology , Macroglossia/therapy
5.
Mod Rheumatol Case Rep ; 4(2): 312-317, 2020 07.
Article in English | MEDLINE | ID: mdl-33087007

ABSTRACT

Wild-type amyloidogenic transthyretin (ATTR) amyloidosis, known as systemic senile amyloidosis (SSA), is an age-related nonhereditary amyloidosis, which is known to cause cardiomyopathy and carpal tunnel syndrome (CTS). Herein, we report a case of unilateral hydrarthrosis with arthritis of the right shoulder joint in an 82-year-old Japanese housewife who has a seven year history of polyneuropathy due to an unknown aetiology. At first, her joint pain was thought to be caused by overuse of her right upper arm. Despite treatment with non-steroidal anti-inflammatory drugs (NSAIDs) and repeated arthrocentesis, her symptoms did not improve. She then visited our hospital, where magnetic resonance imaging (MRI) of her right shoulder suggested synovitis and hydrarthrosis. She also had an arthroscopic synovectomy of the right shoulder joint. The pathological testing revealed a diagnosis of non-specific arthritis with amyloidosis. After further pathological examination, wild-type ATTR was identified and she was diagnosed with senile amyloidosis.


Subject(s)
Amyloidosis/complications , Amyloidosis/metabolism , Arthritis/diagnosis , Arthritis/etiology , Hydrarthrosis/diagnosis , Hydrarthrosis/etiology , Prealbumin/metabolism , Shoulder Joint , Aged, 80 and over , Amyloidosis/etiology , Anti-Inflammatory Agents, Non-Steroidal/administration & dosage , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Arthritis/therapy , Female , Humans , Hydrarthrosis/therapy , Magnetic Resonance Imaging , Polyneuropathies/diagnosis , Polyneuropathies/drug therapy , Polyneuropathies/etiology , Prealbumin/genetics , Symptom Assessment
6.
Magn Reson Imaging Clin N Am ; 28(2): 301-316, 2020 May.
Article in English | MEDLINE | ID: mdl-32241665

ABSTRACT

This article discusses the most common tumor and tumor-like lesions arising at the shoulder. Osseous tumors of the shoulder rank second in incidence to those at the knee joint and include benign osteochondromas and myeloma or primary malignant lesions, such as osteosarcoma or chondrosarcomas. Soft tissue tumors are overwhelmingly benign, with lipomas predominating, although malignant lesions, such as liposarcomas, can occur. Numerous tumor-like lesions may arise from the joints or bursae, due to either underlying arthropathy and synovitis (eg, rheumatoid arthritis and amyloid) or related to conditions, including tenosynovial giant cell tumor and synovial osteochondromatosis.


Subject(s)
Bone Neoplasms/diagnostic imaging , Magnetic Resonance Imaging/methods , Shoulder/diagnostic imaging , Soft Tissue Neoplasms/diagnostic imaging , Ultrasonography/methods , Animals , Bone Neoplasms/pathology , Diagnosis, Differential , Humans , Shoulder/pathology , Soft Tissue Neoplasms/pathology
7.
J Bone Miner Metab ; 38(1): 78-85, 2020 Jan.
Article in English | MEDLINE | ID: mdl-31414282

ABSTRACT

The RDT population, initially at 215 patients, exceeded 300,000 in 2011, with a total of 329,609 patients at the end of December 2016. In our Institute, the number of patients with destructive spondylosis is increasing with the increase in the number of dialysis patients in Japan. We had 14 Cases in the 1990s, and then 82 cases in the 2000s and have already had 131 cases in the 2010s. The purpose of this study was to investigate the incidence of dialysis-related amyloidosis (DRA) such as destructive spondyloarthropathy (DSA), dialysis amyloid arthropathy (DAA), and carpal tunnel syndrome (CTS). In addition, another purpose was to examine the risk factors of the DRA. DAA made its own assessment on radiographs based on stage. Survey items were patient's basic data, laboratory data and X-ray view. Patient's basic data included such as sex, age, height, and weight and RDT-related factors such as kidney disease that led to RDT, age at start of RDT, RDT history, medical history (past and present), and history of surgery. The frequency of DRA was examined by medical history and radiological examination in 199 dialysis patients who obtained informed consent. The patients were divided into two groups according to the presence or absence of DRA, and risk factors of DRA were investigated from the medical history, basic data of patients, and blood tests. Of the 199 patients on regular dialysis therapy, 41 (20.6%) showed DRA. Based on the X-ray images, 21 patients (10.6%) showed DSA, while 22 patients (11.1%) showed DAA. Sixteen patients (8.0%) had CTS, determined through a history of surgery. Regarding overlap of conditions, 14 had both DSA and DAA, 3 had both DSA and CTS, and 2 had both DAA and CTS. There were statistically significant differences between the two groups in the cause of disease in Chronic glomerulonephritis and Diabetic Nephropathy, age at the start of RDT, period of RDT, body weight, blood platelet count, and blood Ca level. When multivariate analysis was performed on these items, statistical differences were recognized only during the dialysis period. In conclusion, long dialysis period was a risk factor for DRA.


Subject(s)
Amyloidosis/epidemiology , Amyloidosis/etiology , Carpal Tunnel Syndrome/epidemiology , Carpal Tunnel Syndrome/etiology , Renal Dialysis/adverse effects , Spondylarthropathies/epidemiology , Spondylarthropathies/etiology , Surveys and Questionnaires , Adult , Aged , Aged, 80 and over , Amyloidosis/diagnostic imaging , Carpal Tunnel Syndrome/diagnostic imaging , Factor Analysis, Statistical , Female , Humans , Japan , Logistic Models , Male , Middle Aged , Multivariate Analysis , Risk Factors , Spondylarthropathies/diagnostic imaging , Young Adult
8.
Avian Pathol ; 47(1): 23-32, 2018 Feb.
Article in English | MEDLINE | ID: mdl-28737107

ABSTRACT

Enterococcus faecalis is the major causative agent of amyloid arthropathy in chickens. Given the difficulty of estimating the risk from field strains, the embryo lethality assay (ELA) is proposed in this study as a model to predict the virulence of 68 avian E. faecalis strains. Additionally, Enterobacterial Repetitive Intergenic Consensus Polymerase Chain Reaction (ERIC-PCR) was used to characterize the genetic diversity of the E. faecalis strains. The ELA was performed 10 times with subsets of 7-8 E. faecalis strains each on a sample of 9987 eggs, including control groups. An estimated 3-24 colony-forming units were inoculated into the allantoic cavity of 10-day-old embryos. The embryonic mortality rate (EMR) was determined by means of candling the eggs over a period of seven days. The ELA was able to distinguish the virulence of the E. faecalis strains. Twenty-six strains were considered as avirulent strains with an EMR of below 40%. Five strains were highly virulent with an EMR above 80%. The remaining 37 strains were classified as strains of moderate virulence, causing an EMR between 40% and 80%. The highest EMR occurred three and four days post-inoculation (p.i.). From the fourth day p.i., almost no embryonic mortality was observed. Therefore, the ELA could be optimized by reducing experiment duration to four days p.i. ERIC-PCR did not cluster the strains according to its virulence, although ERIC banding patterns revealed a considerable genetic diversity. In conclusion, the ELA can be considered a reliable and useful tool to predict the virulence of avian E. faecalis strains.


Subject(s)
Enterococcus faecalis/pathogenicity , Genetic Variation , Gram-Positive Bacterial Infections/veterinary , Polymerase Chain Reaction/veterinary , Poultry Diseases/microbiology , Animals , Chick Embryo , Chickens , Enterococcus faecalis/genetics , Gram-Positive Bacterial Infections/microbiology , Polymerase Chain Reaction/methods , Virulence
9.
Avian Pathol ; 46(5): 548-555, 2017 Oct.
Article in English | MEDLINE | ID: mdl-28470098

ABSTRACT

Enterococcus faecalis is the major pathogen found in field cases of amyloid arthropathy in chickens. Given the need for a better understanding of the virulence mechanisms of the causative strains, the embryo lethality assay (ELA) is proposed in the present study as a model to evaluate the virulence of E. faecalis strains, specifically the pathogenic avian strain K923/96, which was previously related with amyloid arthropathy. Hence, 0.2 ml of five doses of the cited strain (from 2.5 to 2500 colony-forming units (CFU) per ml) were inoculated into the allantoic cavity of 10-day-old embryos. The embryo mortality rate (EMR) was determined by daily candling of the eggs over a period of seven days and based on this information the median lethal dose (LD50) was calculated. The ELA was repeated four times on a sample of 3443 eggs. The infectious dose showed a significant effect on the EMR. The EMR with the doses of 2.5, 5, 25, 250 and 2500 CFU/ml was 43%, 45%, 63%, 90% and 93%, respectively. The estimated dose at LD50 was 6.6 CFU/ml. As expected, the higher the infectious dose, the greater the EMR and the lower the embryo survival time. The highest EMR was recorded after three and four days post-inoculation in all doses. In conclusion, these results can be used as a basis for further researches on the E. faecalis virulence. In order to corroborate its model capacity to predict the virulence of this bacterium, more ELAs with different E. faecalis strains are required.


Subject(s)
Chick Embryo/microbiology , Enterococcus faecalis/pathogenicity , Gram-Positive Bacterial Infections/veterinary , Poultry Diseases/microbiology , Animals , Gram-Positive Bacterial Infections/microbiology , Virulence
10.
Hip Pelvis ; 28(2): 127-31, 2016 Jun.
Article in English | MEDLINE | ID: mdl-27536655

ABSTRACT

Amyloidosis is a disease characterized by the deposition of non-soluble fibrous protein in multiple tissues with a number of possible causes. This protein deposition can occur in any tissue, yet is most commonly seen in kidneys, heart, and gastrointestinal tracts. However, invasion to bone tissues is not often reported. The deposition of amyloid proteins in bone tissues may result in joint pain and pathological fractures; it is important to elucidate the causes and detect early to determine prognosis and treat optimally. In the present case report, with relevant literature review, the authors report a case of total hip arthroplasty in an amyloidosis patient.

11.
Hip & Pelvis ; : 127-131, 2016.
Article in English | WPRIM (Western Pacific) | ID: wpr-207619

ABSTRACT

Amyloidosis is a disease characterized by the deposition of non-soluble fibrous protein in multiple tissues with a number of possible causes. This protein deposition can occur in any tissue, yet is most commonly seen in kidneys, heart, and gastrointestinal tracts. However, invasion to bone tissues is not often reported. The deposition of amyloid proteins in bone tissues may result in joint pain and pathological fractures; it is important to elucidate the causes and detect early to determine prognosis and treat optimally. In the present case report, with relevant literature review, the authors report a case of total hip arthroplasty in an amyloidosis patient.


Subject(s)
Humans , Amyloid , Amyloidogenic Proteins , Amyloidosis , Arthralgia , Arthroplasty, Replacement, Hip , Bone and Bones , Fractures, Spontaneous , Gastrointestinal Tract , Heart , Hip Joint , Hip , Kidney , Multiple Myeloma , Prognosis
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