Background: Severe acute respiratory syndrome COVID-19 infection has evolved into a global pandemic. This study has been designed to evaluate colchicine anti-inflammatory effect on the symptoms course, duration of hospitalization, morbidity and mortality rate, of COVID-19 patients.Methods: In this prospective, open-label, randomized and double blind clinical trial, 100 patients hospitalized with COVID-19 were randomized in a 1:1 allocation from May 21 to June 20, 2020, to either standard medical treatment (Hydroxychloroquine) or colchicine with standard medical treatment. The study took place in Imam Reza hospital of Ardabil city in Iran, with trial registration ID: 47707 (irct.ir). Colchicine group were received 1 mg tablet of colchicine daily alongside the Hydroxychloroquine for 6 days. Primary end points were (1) Length of hospitalization; (2) symptoms and (3) Co-existed disease. Secondary end points were examined 2 weeks after discharge and included (1) mortality and morbidity; (2) re-admission and (3) symptoms. Results: Overall, 100 patients (59 [59%] female; median age, 56 years) fulfilled the admission criteria and were included and randomized at 2 clinical groups. There was no significant difference between the two groups in terms of age and sex. Two groups were not significantly different in terms of underlying diseases and various clinical and para clinical findings although there were not any different during Post-discharge follow-up except for duration of fever (P<0.05). Comparing two groups showed significantly different only in the duration of hospitalized (P<0.05). Although in colchicine group dyspnea was improved more rapid than the placebo group, but it was not meaningful. Conclusion: Colchicine can be effective in reducing systemic symptoms of COVID-19 by inhibiting inflammatory biomarkers.Current Controlled prospective Trials registration ID that has been approved by ICMJE and WHO ICTRP registry is IRCT20200418047126N1, and the date of registration is 2020-05-14.
Background. Familial Mediterranean fever (FMF) is a periodic AR autoinflammatory disorder. This comprehensive study describes FMF in Iran as a country near Mediterranean area. Materials and Methods. From the country FMF registration center 403 patients according to Tel-Hashomer criteria enrolled this study, 239 patients had MEFV gene mutations analyses. Data, if needed, was analyzed by SPSS v20. Results. 175 patients (43.4%) were female and 228 patients (56.6%) were male. The mean age was 21.3 years. Abdominal pain was in 93.3% patients and 88.1% had fever. Abdominal pain was the main complaint of patients in (49.6%). The mean interval between attacks was 36.5 ± 29.6 days and the mean duration of every episodes was 43.3 ± 34.5 hours. 15.1% of patients had positive family history and 12.7% had previous surgery; in 52.3% of patients delay in diagnosis was more than three years. 12 common MEFV gene mutations were analyzed, 21.33% were without mutations, 39.7% had compound heterozygote, 25.52% showed heterozygous, and 13.38% showed homozygous results. The most common compound genotype was M694V-V726A (% 10.46) and in alleles M694V (% 20.9) and V726A (% 12.7) were the most frequent mutations, respectively. Conclusion. M694V was the most common mutation, and the most common compound genotype was M694V-V726A. Our genotype results are similar to Arabs and in some way to Armenians, erysipelas-like skin lesions are not common in this area, and clinical criteria are the preferred methods in diagnosis of FMF.
Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder with two major subtypes. Variants in AGPAT2 result in CGL type 1 with milder manifestations, whereas BSCL2 variants cause CGL type 2 with more severe features. Muscle hypertrophy caused by lack of adipose tissue is present early in life in CGL patients. Our aim was to investigate 10 CGL patients from 7 different countries and report genotype-phenotype relationships. Genetic analysis identified disease-causing variants in AGPAT2 (five patients) and in BSCL2 (five patients), including three novel variants; c.134C>A (p.Ser45*), c.216C>G (p.Tyr72*) in AGPAT2 and c.458C>A (p.Ser153*) in BSCL2. We also report possible novel clinical features such as anemia, breast enlargement, steatorrhea, intraventricular hemorrhage and nephrolithiasis in CGL patients. Generalized lipodystrophy and muscular hypertrophy were the only features in all of our patients. Hepatomegaly was the second common feature. Some manifestations were exclusively noticed in our CGL2 patients; hypertrichosis, high-pitched voice and umbilical hernia. Bone cysts and history of seizures were noticed only in CGL1 patients. The findings of this study expand our knowledge of genotype-phenotype correlations in CGL patients. These results have important clinical applications in diagnosis and management of the CGL patients as well as in genetic counseling in families at-risk.
We examined the role of Helicobacter pylori infection as a cause of recurrent abdominal pain (RAP) among Iranian children in a population-based case-control study to determine the association between H. pylori infection and RAP among schoolchildren. A total of 1558 children aged 6-13 years were examined. Children with RAP confirmed by the Apley and Naish criteria were selected; 145 cases were selected for inclusion and were compared with 145 healthy children recruited from the same area. Both groups underwent stool antigen testing. The prevalence of RAP in the children tested was 9.3%. Children with RAP had a higher H. pylori infection rate than the control group (58.6% vs 44.8%) (OR = 1.744; 95% CI: 1.095-2.776). There was no significant difference between the RAP symptoms in children with positive stool test, i.e. infected with H. pylori, and those whose tests were negative. We identified H. pylori infection in more than 55% of the case group. Therefore, H. pylori infection can be considered an important factor for RAP in children. اإلسالمية إيران مجهورية يف البوابية ة
Background and Aims: Familial Mediterranean Fever (FMF) is a periodic autoinflammatory disease with an autosomal recessive hereditary pattern. The aim of this study is to explain the spectrum of possible neurological manifestations and its genotypephenotype correlation in patients with familial Mediterranean fever. Methods: In this case series study, data of 311 FMF patients at the FMF Registration Center in Iran (http://www.fmfiran.ir/) was studied. Patient's information was entered into a researcher designed questionnaire. Data were analyzed by SPSS software. Results: The mean age of the 181 male and 130 female patients was 23.01 years, ranging from 3-78 years old. Twelve common MEFV gene analyses were performed in 311 patients, with mutated results in 187 (60.1%) patients. The most common neurological manifestations were headache in 47.26%; 64.1% of those were persistent and 35.9% had a recurrent nature. Other neurological manifestations were vertigo (83 patients, 26.7%), paresthesia (72 patients, 23.2%), tremor (53 patients, 17%), disorientation (40 patients, 12.9%), breath-holding (23 patients, 7.4%), migraine (19 patients, 6.1%), syncope (8 patients, 2.6%), epilepsy (7 patients, 2.3%), febrile seizure (4 patients, 1%), and ataxia (5 patients, 1.6%). There were no cases of stroke or metabolic disorders among these patients. Conclusion: The prevalence of epilepsy among FMF patients was significantly higher than the general population. FMF patients with negative results for MEFV gene mutations had significant frequency of headache, paresthesia, breath-holding, and ataxia.
Background and Aims: Familial Mediterranean fever (FMF) is a prototype of autoinflammatory disease and mainly associated with MEFV gene mutations. This single-center study as an experience represents FMF-coexisting disease in the FMF registration database. Methods: Four hundred patients who had FMF based on clinical criteria (Tel-Hashomer) and/or MEFV mutations enrolled the study. Twelve most common MEFV mutations (P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q) were analyzed if needed by the reverse hybridization assay. Any coexisted disease had been confirmed by a related subspecialist. All data were analyzed by a simple analytical method. Results: Fifty-seven (14%) patients had associated disease, 32 patients were male and 24 patients were under 10 years old. They included 92 MEFV variant alleles and only in five patients there were not any mutations. The most common variant alleles were M694V (36%), E148Q (22%), V726A (17%), M680I (1%) and M694I (0.07%) respectively. Rheumatologic disorders were the most common coexisting disease, then followed by gastrointestinal and neurological disorders. Some rare diseases such as TTP, growth hormone deficiency, multiple sclerosis, idiopathic ascites, Leiden factor V deficiency and Felty syndrome have been detected. Homozygote mutations of (M694V-M694V) were associated with idiopathic ascites, orchitis and pericarditis. Conclusion: Coexisting disease in patients with FMF is presented with positive MEFV gene mutations particularly with these five common variant alleles: M694V, E148Q, V726A, M680I, and M694I. The commonly associated diseases are rheumatologic, gastrointestinal and CNS disorders.
Introduction. Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by attacks of fever and polyserositis. FMF is often associated with other autoimmune diseases such as rheumatoid arthritis, polyarteritis nodosa (PAN), and Behcet. Uveitis is an inflammatory process caused by underlying infectious and inflammatory disorders. This study investigates the probable relationship between idiopathic uveitis and FMF. Methods. Patients with idiopathic uveitis were analyzed for the 12 most common MEFV mutations (P369S, F479L, M680I(G/C), M680I(G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q) by a reverse hybridization assay (FMF StripAssay,Vienna lab,Vienna, Austria). Results. 12 patients with idiopathic uveitis were enrolled in this study. 10 of them were female. The youngest patient was a 7-year-old child and the oldest was 57. The most common complaints of patients were blurred vision and then eye redness. One patient was heterozygous for R761H. Genetic analysis of the 12 most common MEFV mutations in the patients with idiopathic uveitis didnot have any positive results. Conclusion. According to the analysis of the 12 most common MEFV gene mutations, FMF is not an underlying cause of idiopathic uveitis. On the other hand, uveitis merely could not be the first presentation of FMF.
Background and Objective. MEFV gene codes the pyrine protein that has major role in FMF as an autoinflammatory disorder. FMF is more often seen in the people of the Mediterranean area. Considering the significant role of MEFV gene in many rheumatologic diseases and even nonrheumatologic disorders, it is necessary to identify different variations of these mutations in the healthy and normal population of this area. Methods. 224 healthy (unaffected or control) people based on the Cochran formula entered this study. The blood samples were screened for the 12 common MEFV gene variants polymorphisms according to manufacturer’s instructions (FMF Strip Assay, Vienna lab, Vienna, Austria). They filled a questionnaire containing required information. All healthy control cases initially were evaluated for FMF symptoms and signs in themselves and their first-degree relatives based on clinical criteria. All data were analyzed by simple statistical method. Results. Among 224 healthy control cases, 113 (50.4%) were male and 111 (49.6%) female. There were MEFV variants alleles in 57 patients (25%): 28 were male (49.1%) and 29 female (50.9%). The most frequent variants were E148Q (18.3%), followed by P369S (3.1%), V726A (2.2%), A744S (1.3%), and F479L, M694V, and R761H (0.8%), and eventually K695R (0.4%), respectively. Some variants such as M694I, M680I (G/C), M680I (G/A), and I692del were not seen in these samples. There were compound heterozygote variations of E148Q/P369S, E148Q/V726A, E148Q/P369S, and P369S/F479L in normal population without any findings in favor of FMF. Conclusion. Twenty-five percent of the normal populations of the northwest of Iran are carrying MEFV gene variants, and the most common mutation is E148Q (18.3%). The presence of M694I, M680I (G/C), M680I (G/A), I692del mutations in the normal population can be interpreted cautiously, while particular compound heterozygote mutations can be considered as normal variants.
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