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benign paroxysmal peritonitis [keywords]
- Tocilizumab in the treatment of patients with AA amyloidosis secondary to familial Mediterranean fever. [LETTER]
- Rheumatology (Oxford) 2014 Dec 11.
- Protracted febrile myalgia syndrome in a Japanese patient with fasciitis detected on MRI. [Journal Article]
- Intern Med 2014; 53(24):2817-9.
Protracted febrile myalgia syndrome (PFMS) is a rare manifestation of familial Mediterranean fever characterized by prolonged severe myalgia. We herein describe a case of PFMS with fasciitis on magnetic resonance imaging. The response to corticosteroid therapy was prompt, as is typical for PFMS. An MEFV gene analysis revealed the patient to be homozygous for E148Q and compound heterozygous for P369S-R408Q. This is the first case report of a Japanese patient with PFMS. MRI findings may help to diagnose such cases.
- A rare coincidence of torticollis in Familial Mediterranean Fever: Atlanto-axial rotatory subluxation. [Journal Article]
- Clin Neurol Neurosurg 2014 Dec.:158-60.
- Colchicine for pericarditis. [REVIEW]
- Trends Cardiovasc Med 2014 Oct 2.
Colchicine is one of the oldest available drugs. It has been used for centuries to treat and prevent gouty attacks and more recently to prevent attacks of autoinflammatory diseases such as Familial Mediterranean Fever. Its main mechanism of action is the capability to block the polymerization of tubulin, thus affecting the function of microtubules. The capability to concentrate in white blood cells, especially granulocytes, and interfere with their function explains its potentiality as an anti-inflammatory drug. Colchicine (0.5mg twice daily for patients >70kg or once daily for those weighing less) in addition to standard anti-inflammatory therapy, in either acute or recurrent pericarditis, may hasten the response to anti-inflammatory therapy and reduce the subsequent risk of recurrences. After exclusion of contraindication and appropriate dose adjustment, the drug is safe and well tolerated. The more common side effect is gastrointestinal intolerance occurring in 5-10% of cases and may be controlled by dose reduction or temporary discontinuation.
- A study of familial Mediterranean Fever (MEFV) gene mutations in Egyptian children with type 1 diabetes mellitus. [JOURNAL ARTICLE]
- Eur J Med Genet 2014 Nov 4.
An association of type 1 DM and familial Mediterranean fever (FMF) has been newly reported in the medical literature. The aim of the present work was to investigate frequency of MEFV gene mutations in Egyptian children with type 1 diabetes mellitus.Forty five children with type 1 DM were screened for Mediterranean Fever (MEFV) gene mutation. Forty one healthy control subjects were included. Identification of FMF gene mutation was done based on polymerase chain reaction (PCR) and reverse hybridization. The assay covers 12 mutations in the FMF gene: E148Q - P369S - F479L - M680I (G/C) - M680I (G/A) - I692del - M694V - M694I - K695R-V726A - A744S and R761H.Among the screened diabetics, the overall frequency of MEFV gene mutations was 42.2% and among the control group it was 34.1% with no significant difference. Fourteen out of 45 diabetic children (31.1%) were heterozygous (E148Q in 7 children, A744S in 3 children, V726A in 2 children, M680I (G/C) in 1 child and P369S in1 child), while 5 children (11.1%) were compound heterozygous (M694V/M694I in 2 children, E148Q/K695R mutations in 1 child, E148Q/M694I in 1 child and E148Q/V726A in 1 child). The control group showed heterozygous mutation in 34.1% of cases (E148Q mutation in 14.6%, V726A in 12.2%, M680I (G/C) in 4.9% and M694V in 2.4%).No significant difference in mutation frequency between diabetic and non-diabetic children. We have high carrier rate of MEFV gene mutations among Egyptian population probably due to high consanguinity.
- Familial Mediterranean fever gene (MEFV) mutations and disease severity in systemic lupus erythematosus (SLE): implications for the role of the E148Q MEFV allele in inflammation. [JOURNAL ARTICLE]
- Lupus 2014 Nov 20.
Observed low prevalence of SLE among familial Mediterranean fever (FMF) patients in several large cohorts suggests a possible protective effect of the MEFV mutations from SLE. In contrast, SLE patient carriers for the common MEFV mutations had rather complex disease expression with an increased frequency of febrile episodes and pleurisy and a decreased renal complication rate. Our aim was to investigate the prevalence of MEFV gene mutations in patients with SLE and their effect on organ involvement in a well-defined group of biopsy-proven SLE nephritis patients.The prevalence of four MEFV gene mutations (M694V, M680I, V726A and E148Q) was investigated in 114 SLE patients and effect on disease severity was analyzed in patients with biopsy-proven SLE nephritis.None of the SLE patients fulfilled the revised Tel-Hashomer criteria. Fourteen of 114 SLE patients (12.2%) were found to carry at least one MEFV mutation. A single patient in the SLE-Nephritis group was compound heterozygous for M694V/M680I mutations and only one patient in the SLE-Mild group was homozygous for E148Q mutation. Carrier frequency was similar to controls in SLE patients (12.2 vs 18.8%, p = 0.34). After the exclusion of the less penetrant E148Q mutation, re-analysis revealed an association between exon 10 mutations and SLE nephritis (p = 0.050, odds ratio (OR) = 4.16, 95% confidence interval (CI) = 1.04-16.6). Carrier rate for the E148Q mutation decreased in the SLE group (controls vs. SLE = 20/186 vs. 3/114, p = 0.08) and E148Q mutation was absent in SLE nephritis (controls vs. SLE nephritis = 20/186 vs. 0/47, p = 0.016, OR = 11.69, 95% CI = 0.69-197.13).Carrier rate for the studied MEFV mutations was slightly lower in the SLE group, which is in agreement with previous observations that FMF may confer some protection from SLE. Exon 10 mutations were associated with SLE nephritis after the exclusion of the E148Q mutation. The significance of the E148Q as a disease-causing mutation is controversial, and whether E148Q substitution is a polymorphism generally affecting inflammatory pathways is not addressed in the current literature. In this regard, absence of the E148Q mutation in SLE nephritis may serve as a clue for further investigation into its role as a general modulatory polymorphism for inflammation. This clarification is necessary to conclude whether other more penetrant MEFV gene mutations confer susceptibility to nephritis in SLE.
- Intrauterine device may trigger typical attacks of familial Mediterranean fever: a case report. [JOURNAL ARTICLE]
- Wien Klin Wochenschr 2014 Nov 15.
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by episodic, recurrent, self-limited attacks of fever and serositis (sterile peritonitis, pleuritis, arthritis, etc). The insufficiency in restriction of mild inflammation contributes this consequence in FMF.Intrauterine devices (IUDs) have been widely used in the world for contraception by gynecologists as an effective and safe method. Herein, we present a woman with FMF as the first case, whose attacks were triggered by copper-containing IUD. Our hypothesis in the present case was that sterile mild inflammation in the uterus caused by copper-containing IUD may be the initial source of systemic inflammatory response.In our opinion, clinicians should consider that the copper-containing IUDs may be another cause of FMF attacks in women using this contraceptive method.
- Familial Mediterranean Fever Associated with MEFV Mutations in a Large Cohort of Cypriot Patients. [JOURNAL ARTICLE]
- Ann Hum Genet 2014 Nov 13.
Familial Mediterranean fever (FMF) is caused by mutations in the MEFV gene and the spectrum of mutations among Greek-Cypriots with FMF-related symptoms was examined. Sequence analysis for exons 2, 3, 5, and 10 of the MEFV gene was performed in a cohort of 593 patients. A total of 70 patients carried mutations in the homozygote or compound heterozygote state, 128 were identified with one MEFV mutation and 395 had no mutations. Of the 268 identified alleles, p.Val726Ala (27.61%) was the most frequent followed by p.Met694Val (19.40%). The missense mutations p.Arg761His (3.73%) and p.Ala744Ser (2.24%) were identified as the rarest. An interesting finding is the high frequency (18.28%) of the complex p.Phe479Leu-p.Glu167Asp that was identified in 49 of the mutated alleles. The MEFV genotypes did not follow a binomial distribution and proved not to satisfy the HWE (P < 0.001). The high percentage (66.61%) of patients with unidentified mutations could be due to mutations in the rest of the coding or noncoding MEFV gene or due to mutations in other genes that are also causing Hereditary Recurrent Fevers. Results from this work indicate the high incidence of FMF in Cyprus and describe the spectrum of the mutations which occur in the country.
- Native kidney biopsies in Armenian and Swiss children: high prevalence of amyloidosis in Yerevan and of IgA nephropathy in Zurich. [JOURNAL ARTICLE]
- Virchows Arch 2014 Nov 8.
The spectrum of pathology in native kidney biopsies varies considerably between different countries. Based on similar biopsy policy and joint workup, biopsy data of native kidneys of children in Yerevan (Armenia) and Zurich (Switzerland) were compared over a period of two decades (1993-2002 and 2003-2012). A total of 487 renal biopsies in Yerevan (EVN), n = 253; median age 11.2 years (range 0.8-18; 56 % males) and in Zurich (ZRH), n = 234; median age 8.7 years (range 0.1-18; 61 % males) were analyzed. Biopsies from EVN were locally analyzed by light microscopy (LM) and sent to ZRH for electron microscopy (EM) and immunohistochemistry. Biopsies from ZRH were evaluated by LM, EM, and immunofluorescence. The significant difference concerns the high frequency of amyloidosis in EVN (25.4 % in the first and 19.4 % in the second decade vs. 0 % in ZRH) and of IgA nephropathy in ZRH (30.2 % in the first and 26.1 % in the second decade vs. 8.1 in EVN). Certain forms of glomerulonephritis (membranoproliferative type I and membranous) and primary focal segmental glomerulosclerosis tended to be more frequent in EVN than in ZRH. Amyloid nephropathy due to familial Mediterranean fever is still highly frequent in Armenia with a slight decrease in the second decade. In Switzerland, the most common finding was IgA nephropathy.