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  • Wiley Online Library  (44)
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  • 1
    In: International Journal of Rheumatic Diseases, December 2017, Vol.20(12), pp.2236-2237
    Description: To purchase or authenticate to the full-text of this article, please visit this link: http://onlinelibrary.wiley.com/doi/10.1111/1756-185X.12811/abstract Byline: Mansoor C. Abdulla, Philip N. Hawkins, Jemshad Alungal, Dorota Rowczenio ***** No abstract is available for this article. *****
    Keywords: Biopsy–Blood ; Child–Immunology ; Delayed Diagnosis–Diagnosis ; Genetic Predisposition to Disease–Drug Therapy ; Heredity–Genetics ; Humans–Immunology ; Immunoglobulin D–Genetics ; India–Genetics ; Male–Genetics ; Mevalonate Kinase Deficiency–Genetics ; Mutation–Genetics ; Phenotype–Genetics ; Phosphotransferases (Alcohol Group Acceptor)–Genetics ; Predictive Value of Tests–Genetics ; Time Factors–Genetics ; Immunoglobulin D ; Phosphotransferases (Alcohol Group Acceptor) ; Mevalonate Kinase;
    ISSN: 1756-1841
    E-ISSN: 1756-185X
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  • 2
    Language: English
    In: Arthritis & Rheumatism, April 2013, Vol.65(4), pp.1116-1121
    Description: AA amyloidosis is a life-threatening complication of the hereditary periodic fever syndromes (HPFS), which are otherwise often compatible with normal life expectancy. This study was undertaken to determine the characteristics, presentation, natural history, and response to treatment in 46 patients who had been referred for evaluation at the UK National Amyloidosis Centre. Disease activity was monitored by serial measurement of serum amyloid A. Renal function was assessed by measurement of serum creatinine and albumin levels, the estimated glomerular filtration rate, and proteinuria from 24-hour urine collections. The amyloid load was measured by serum amyloid P scintigraphy. Twenty-four patients had familial Mediterranean fever, 12 patients had tumor necrosis factor receptor-associated periodic syndrome, 6 patients had cryopyrin-associated periodic syndromes, and 4 patients had mevalonate kinase deficiency. The median age at onset of HPFS was 5 years; median age at presentation with AA amyloidosis was 38 years. Diagnosis of an HPFS had not been considered prior to presentation with AA amyloidosis in 23 patients (50%). Eleven patients (24%) had end-stage renal failure (ESRF) at presentation; of these, 3 had received transplants prior to referral. A further 13 patients developed ESRF over the followup period, with 10 undergoing renal transplantation. The median time to progression to ESRF from onset of AA amyloidosis was 3.3 years (interquartile range [IQR] 2-8), with a median time to transplant of 4 years (IQR 3-6). Eleven patients (24%) died. The median survival in the entire cohort was 19 years from diagnosis of AA amyloidosis. Of the 37 patients who were treated successfully, or in whom at least partial suppression of the underlying HPFS was achieved, 17 (46%) showed amyloid regression, 14 (38%) showed a stable amyloid load, and 2 (5%) showed increased amyloid deposition over the followup period. AA amyloidosis remains a challenging and serious late complication of HPFS; however, outcomes are excellent when HPFS is diagnosed early enough to allow effective treatment, thus preventing or retarding further amyloid deposition and organ damage.
    Keywords: Amyloidosis -- Etiology ; Hereditary Autoinflammatory Diseases -- Complications ; Serum Amyloid A Protein -- Metabolism;
    ISSN: 0004-3591
    E-ISSN: 1529-0131
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  • 3
    Language: English
    In: Arthritis & Rheumatism, November 2003, Vol.48(11), pp.3299-3300
    Keywords: Aged–Drug Therapy ; Amyloid Neuropathies–Etiology ; Antibodies, Monoclonal–Physiopathology ; Antirheumatic Agents–Administration & Dosage ; Arthritis, Rheumatoid–Administration & Dosage ; Female–Complications ; Humans–Drug Therapy ; Infliximab–Drug Therapy ; Proteinuria–Etiology ; Treatment Failure–Etiology ; Abridged ; Antibodies, Monoclonal ; Antirheumatic Agents ; Infliximab;
    ISSN: 0004-3591
    E-ISSN: 1529-0131
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  • 4
    In: Arthritis & Rheumatology, February 2016, Vol.68(2), pp.516-520
    Description: OBJECTIVE: Pneumococcal vaccination is recommended for patients receiving immunosuppressive drugs. We describe unusually severe adverse reactions to pneumococcal vaccination in each of 7 consecutive patients with cryopyrin-associated periodic syndromes (CAPS).METHODS: Seven consecutive patients with CAPS were vaccinated with pneumococcal polysaccharide or conjugate vaccines. Clinical information was collected retrospectively.RESULTS: Within a few hours after the vaccination, all 7 patients developed severe local reactions at the injection site. Two patients had to be hospitalized for systemic reactions including fever. All symptoms resolved in a period of 3-17 days.CONCLUSION: Our findings indicate that pneumococcal vaccines can trigger a severe local and systemic inflammatory reaction in patients with CAPS and possibly patients with other autoinflammatory diseases. Careful consideration is warranted when implementing current European League Against Rheumatism immunization guidelines in this patient population.
    Keywords: Medicine;
    ISSN: 2326-5191
    E-ISSN: 2326-5205
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  • 5
    In: British Journal of Haematology, September 2013, Vol.162(6), pp.856-858
    Description: Byline: Murielle Roussel, Sajitha Sachchithanantham, Simon D. J. Gibbs, Christopher P. Venner, Jennifer H. Pinney, Julian D. Gillmore, Helen J. Lachmann, Philip N. Hawkins, Ashutosh D. Wechalekar Keywords: immunoglobulin D; IgD amyloidosis; systemic AL amyloidosis; rare amyloidosis; light chain amyloidosis ***** No abstract is available for this article. *****
    Keywords: Immunoglobulin ; G Amyloidosis ; Systemic Amyloidosis ; Rare Amyloidosis ; Light Chain Amyloidosis
    ISSN: 0007-1048
    E-ISSN: 1365-2141
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  • 6
    In: Human Mutation, September 2014, Vol.35(9), pp.E2403-E2412
    Description: Hereditary systemic amyloidosis comprises a group of rare monogenic diseases inherited in an autosomal dominant fashion. It is associated with mutations in genes encoding eight different proteins, including transthyretin, apolipoprotein AI, apolipoprotein AII, lysozyme, fibrinogen A α‐chain, cystatin C, gelsolin and beta‐2‐microglobulin. With support from the EU FP6 EURAMY project we have designed an online registry of genes and mutations in hereditary amyloidosis including their associated clinical phenotypes, with a view to having a single free online portal for the collection and distribution of this information. Users can search the registry by either mutation, phenotype or authors who have published or submitted mutations. It provides a submission form for reporting newly identified mutations. We also wanted to introduce nomenclature which complies with recommendations set out by Human Genome Variation Society and HUGO Gene Nomenclature Committee for description of new and known genetic variants. We hope this registry would be a useful and convenient tool for the medical and scientific community. ©2014 Wiley‐Liss, Inc.
    Keywords: Hereditary Amyloidosis ; Online Registry ; Amyloidogenic And Non‐Amyloidogenic Mutations
    ISSN: 1059-7794
    E-ISSN: 1098-1004
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  • 7
    Language: English
    In: Arthritis & Rheumatism, August 2004, Vol.50(8), pp.2708-2709
    Keywords: Medicine;
    ISSN: 0004-3591
    E-ISSN: 1529-0131
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  • 8
    Language: English
    In: Arthritis & Rheumatism, February 2004, Vol.50(2), pp.607-612
    Description: OBJECTIVE: Mutations in the NALP3/CIAS1/PYPAF1 gene are associated with the autoinflammatory diseases Muckle-Wells syndrome (MWS), familial cold autoinflammatory syndrome (FCAS), and neonatal-onset multisystem inflammatory disease (NOMID), which is also known as chronic infantile neurologic, cutaneous, articular (CINCA) syndrome. Molecular studies suggest that NALP3 is involved in the processing of interleukin-1beta (IL-1beta), prompting us to investigate whether IL-1 blockade may be therapeutic in patients with MWS.METHODS: We reviewed the clinical features of 3 members of a family, all of whom had MWS associated with the NALP3 variant V200M (also designated V198M), and evaluated the response of their inflammatory disease to treatment with the recombinant human IL-1 receptor antagonist anakinra. The subjects kept a diary of symptoms and underwent fortnightly clinical and laboratory assessments, including measurement of the serum amyloid A protein concentration.RESULTS: Each subject had fever, rashes, arthralgia, conjunctivitis, sensorineural deafness, and an intense acute-phase response characteristic of MWS. However, additional features were identified, including exacerbation of their disease by cold and neurologic manifestations, that have hitherto been described only in FCAS and NOMID, respectively. Clinical and serologic evidence of active inflammatory disease resolved rapidly and completely during treatment with anakinra.CONCLUSION: The remarkable response of MWS to anakinra suggests that IL-1beta has a fundamental role in the pathogenesis of inflammation associated with mutations in the NALP3 gene, and supports study of IL-1 inhibition in patients with NOMID/CINCA syndrome or FCAS. The clinical features of the various syndromes associated with mutations in the NALP3 gene may overlap to a greater extent than has previously been recognized.
    Keywords: Medicine;
    ISSN: 0004-3591
    E-ISSN: 1529-0131
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  • 9
    Language: English
    In: Arthritis & Rheumatism, October 2002, Vol.46(10), pp.2571-2573
    Description: We describe herein a patient with rheumatoid arthritis who developed proteinuria due to AA amyloidosis, in whom the inflammatory disease was rapidly and completely suppressed by treatment with infliximab. This response was accompanied by resolution of the proteinuria and stabilization of the amyloid deposits as seen on serial I‐labeled serum amyloid P scintigraphy.
    Keywords: Amyloidosis -- Drug Therapy ; Antibodies, Monoclonal -- Administration & Dosage ; Antirheumatic Agents -- Administration & Dosage ; Arthritis, Rheumatoid -- Drug Therapy ; Proteinuria -- Drug Therapy;
    ISSN: 0004-3591
    E-ISSN: 1529-0131
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  • 10
    In: British Journal of Haematology, January 2015, Vol.168(2), pp.186-206
    Description: To purchase or authenticate to the full-text of this article, please visit this link: http://onlinelibrary.wiley.com/doi/10.1111/bjh.13155/abstract Byline: Ashutosh D. Wechalekar, Julian D. Gillmore, Jenny Bird, Jamie Cavenagh, Stephen Hawkins, Majid Kazmi, Helen J. Lachmann, Philip N. Hawkins, Guy Pratt, Keywords: amyloid; AL amyloidosis; guidelines; chemotherapy; transplantation ***** No abstract is available for this article. ***** Article Note: This guideline is in date at the time of printing any updates will be posted on the BCSH website http://www.bcshguidelines.com/index.html.
    Keywords: Amyloid ; Al Amyloidosis ; Guidelines ; Chemotherapy ; Transplantation
    ISSN: 0007-1048
    E-ISSN: 1365-2141
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