scholarly journals MEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Which Is Near to Mediterranean Sea

2019 ◽  
Vol 2019 ◽  
pp. 1-4 ◽  
Author(s):  
Farhad Salehzadeh ◽  
Afshan Sharghi ◽  
Atena Motayayagheni ◽  
Saied Hosseini Asl ◽  
Mahsa Mottaghi ◽  
...  
Keyword(s):  
Normal Population ◽  
Mefv Gene ◽  
Mediterranean Area ◽  
Compound Heterozygote ◽  
Common Mutation ◽  
Gene Variants ◽  
Clinical Criteria ◽  
Rheumatologic Diseases ◽  
Healthy Control ◽  
Northwest Of Iran

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.

scholarly journals Familial Mediterranean Fever in Iran: A Report from FMF Registration Center

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Farhad Salehzadeh
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
Positive Family History ◽  
Gene Mutations ◽  
Skin Lesions ◽  
Common Mutation ◽  
Clinical Criteria ◽  
Mediterranean Fever ◽  
The Mean

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 was36.5±29.6days and the mean duration of every episodes was43.3±34.5hours. 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.

scholarly journals MEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Ardabil Province

2019 ◽  
Vol 19 (1) ◽  
pp. 110-116
Author(s):  
Farhad Salehzadeh ◽  
Afshan Sharghi ◽  
Atena Moteyagheni ◽  
Saeid Hosseini asl ◽  
Mahsa Mottaghi ◽  
...  
Keyword(s):  
Normal Population ◽  
Mefv Gene ◽  
Gene Variant ◽  
Northwest Of Iran ◽  
Variant Alleles

scholarly journals Diagnosis of Systemic Lupus Erythematosus in a Polynesian Male with a History of Rheumatic Fever: A Case Report and Literature Review

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Charyse Diaz ◽  
Matthew A. Lim ◽  
Chloe A. Liu ◽  
Chloe S. Miwa ◽  
Darcy Tokunaga ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Rheumatic Fever ◽  
Lupus Erythematosus ◽  
Disease Process ◽  
Aortic Insufficiency ◽  
Oral Steroid ◽  
Systemic Lupus ◽  
Clinical Criteria ◽  
Rheumatologic Diseases ◽  
High Erythrocyte Sedimentation Rate

The presence of rheumatic heart disease (RHD) and systemic lupus erythematosus (SLE) has rarely been described in one patient. This report describes an adolescent Polynesian male with RHD who developed SLE years later. Initially, he fulfilled modified Jones criteria for rheumatic fever with aortic insufficiency, transient arthritis, elevated streptococcal titers, and a high erythrocyte sedimentation rate with a negative antinuclear antibody (ANA). He responded well to nonsteroidal anti-inflammatory and penicillin prophylaxis, which supported the diagnosis of rheumatic fever. Five years after his RHD diagnosis, he developed pancreatitis with glomerulonephritis, nephrosis, and pancytopenia. In addition, laboratory results revealed that he had multiple autoantibodies: anti-Sm and extremely elevated anti-dsDNA and ANA, fulfilling diagnostic criteria for SLE. The patient was treated, and he responded to pulse steroids followed by oral steroid therapy. To our knowledge, there are no known reported cases of a patient who was diagnosed with both RHD and SLE and met the clinical criteria for both diseases. The rarity of this concurrent disease process in one patient suggests a possible overlap in humoral immunity toward self-antigens as well as ethnic variability that increases predisposition to rheumatologic diseases.

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum

2019 ◽  
Vol 179 (3) ◽  
pp. 386-396 ◽  
Author(s):  
Ebba Alkhunaizi ◽  
Shirley Shuster ◽  
Patrick Shannon ◽  
Victoria Mok Siu ◽  
Sandra Darilek ◽  
...  
Keyword(s):  
Compound Heterozygote ◽  
Clinical Spectrum ◽  
Gene Variants ◽  
Ryr1 Gene

scholarly journals Recurrent Synovitis of Hip and MEFV Gene Related Arthritis in Children

2020 ◽  
Author(s):  
Farhad Salehzadeh ◽  
Mehrdad Mirzarahimi
Keyword(s):  
Rheumatic Disease ◽  
Peripheral Blood ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Mediterranean Area ◽  
Hip Joints ◽  
Mefv Mutations ◽  
Pathogenic Variants ◽  
Pathologic Findings

Abstract Background : Recurrent and relapsing arthritis has been proposed to describe a group of arthritis with recurring and periodic nature, in which the joints are intermittently involved. This study reports three non-FMF patients with heterozygous MEFV gene mutations and an extraordinary arthritis as a recurrent synovitis of hip (RSH) Methods : During 16-years from 2003 to 2019 at pediatric rheumatologic clinic among 195 recorded files with chronic oligoarthritis, 3 patients with diagnosis of recurrent synovitis of hip (RSH) were reviewed thoroughly. Peripheral blood was collected from patients and the samples were screened for the 12 common MEFV gene pathogenic variants. Results: This study included three patients, two female and one male with relapsing idiopathic arthritis that has been located on hip joints as a sole manifestation and pathologic findings of MEFV mutations as follow: A744S, V726A, and R761H. Conclusion : On the basis of possible role of MEFV gene in different rheumatic disease, MEFV gene related arthritis may be considered as a background of RSH particularly in Mediterranean area.

scholarly journals Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age

2021 ◽  
Vol 2021 ◽  
pp. 1-11
Author(s):  
Rumi Katashima ◽  
Mari Matsumoto ◽  
Yuka Watanabe ◽  
Maki Moritani ◽  
Ichiro Yokota
Keyword(s):  
Molecular Diagnosis ◽  
Pediatric Patients ◽  
Direct Sequencing ◽  
Clinical Information ◽  
Gene Variants ◽  
Family History Of Diabetes ◽  
Clinical Criteria ◽  
Endogenous Insulin ◽  
Patients With Diabetes ◽  
Individualized Management

Background. Maturity-onset diabetes of the young (MODY) is commonly misdiagnosed as type 1 or type 2 diabetes. Common reasons for misdiagnosis are related to limitations in genetic testing. A precise molecular diagnosis is essential for the optimal treatment of patients and allows for early diagnosis of their asymptomatic family members. Objective. The aim of this study was to identify rare monogenic variants of common MODY genes in Japanese pediatric patients. Methods. We investigated 45 Japanese pediatric patients based on the following clinical criteria: development of diabetes before 17 years of age, a family history of diabetes, testing negative for glutamate decarboxylase-65 (GAD 65) antibodies and insulinoma-2-associated autoantibodies (IA-2A), no significant obesity, and evidence of endogenous insulin production. Genetic screening for MODY1 (HNF4α), MODY2 (GCK), MODY3 (HNF1α), and MODY5 (HNF1β) was performed by direct sequencing followed by multiplex ligation amplification assays. Results. We identified 22 missense variants (3 novel variants) in 27 patients (60.0%) in the GCK, HNF4α, and HNF1α genes. We also detected a whole exon deletion in the HNF1β gene and an exon 5–6 aberration in the GCK gene, each in one proband (4.4%). There were a total of 29 variations (64.4%), giving a relative frequency of 53.3% (24/45) for GCK, 2.2% (1/45) for HNF4α, 6.7% (3/45) for HNF1α, and 2.2% (1/45) for HNF1β genes. Conclusions. Clinicians should consider collecting and assessing detailed clinical information, especially regarding GCK gene variants, in young antibody-negative patients with diabetes. Correct molecular diagnosis of MODY better predicts the clinical course of diabetes and facilitates individualized management.

scholarly journals Rapid Detection of Bacterial Vaginosis (BV) by BVBlue test

1970 ◽  
Vol 4 (1) ◽  
pp. 24-27
Author(s):  
Shameem Akhter ◽  
Humayun Satter ◽  
Shirin Tarafder ◽  
Ruhul Amin Miah ◽  
Sohely Sharmin ◽  
...  
Keyword(s):  
Bacterial Vaginosis ◽  
Vaginal Discharge ◽  
Vaginal Swab ◽  
Reproductive Age ◽  
Gram Stain ◽  
Clinical Criteria ◽  
Healthy Control ◽  
History Of ◽  
Study Population ◽  
Abnormal Vaginal Discharge

Bacterial vaginosis is the commonest cause of abnormal vaginal discharge in women of reproductive age and require laboratory test for diagnosis . A total 200 women aged 15-45 years with history of abnormal vaginal discharge were included as study population. Fifty women without such history of discharge were taken as healthy control. Three vaginal swab samples were taken from each case and control. These swab samples were subjected to test by conventional methods such as Amsel clinical criteria, Gram stain Nugent method, culture and by newly developed BV Blue test. The results of the BVBlue test were compared with these methods to find out the efficacy of BVBlue test. Rate of detection of bacterial vaginosis (BV) cases was 21.5% by Amsel clinical criteria, 21.0% by Gram stain Nugent method, 21.0% by culture and 22% by BVBlue test among the study population. When comparing with the conventional test and culture, BVBlue test was 100% sensitive and 98% specific. It is rapid, technically simple and is suitable for screening large number of patient in short time where laboratory facilities are not developed. Key words: Bacterial Vaginosis, BVBlue test, Nugent method, Abnormal vaginal discharge. DOI: http://dx.doi.org/10.3329/bjmm.v4i1.8465 BJMM 2011; 4(1): 24-27

The Spectrum of δ-Thalassemia in the Western Sicily.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 3824-3824
Author(s):  
Aurelio Maggio ◽  
Cristina Passarello ◽  
Gaetano Ruggeri ◽  
Pietro Teresi ◽  
Maurizio Anzà ◽  
...  
Keyword(s):  
Globin Gene ◽  
Point Mutations ◽  
Gene Mutations ◽  
Common Mutation ◽  
Gene Variants ◽  
Three Samples ◽  
Western Sicily ◽  
Gene Defects ◽  
Correct Estimation ◽  
Sicilian Population

Abstract The detection of β-thalassemia carriers is based on the correct estimation of HbA2 values.The diagnosis of β-thalassemia carriers may be more complicated in presence of δ-thalassemia because the interaction between δ and β-globin gene defects modifies the HbA2 values. For this reason, we studied the spectrum of δ-globin gene mutations present in the Sicilian population, characterized by its very high heterogeneity in β-thalassemia genotype and phenotype. The samples were selected by screening and routine prenatal diagnoses counseling for thalassemia. Among 7153 samples studied for β-thalassemia, 205 samples were selected for HbA2 levels ranging from 0.5% to 2.0% and normal haematology parameters, suspected of being δ-thal carriers in the absence of α and β-thalassemia or hemoglobin variants, and for HbA2 levels from 2.1% to 4.6% in subjects suspected of compound heterozygotes for δ and β-thalassemia and between 1.4% and 2.0% for δ and α-thalassemia. We have considered the value of 2% as the treshold between normal and d-carrier subjects. One-hundred-eighty-three samples showed to be positive for δ-globin gene mutations.Twelve mutations were detected and among these five were new δ-globin gene defects (HbA2-Catania, HbA2-Corleone, HbA2-Ventimiglia; HbA2-Montechiaro and HbA2-Bagheria) determining δ-globin gene variants and seven were already described mutations. Among these six of them were point mutations (HbA2-Mitsero, HbA2-NYU,HbA2-Yialousa, HbA2-Coburg, HbA2-Fitzroy) and one a 7.2 Kb deletion mutation known as the δ-Corfù type, HBD g.5946_1262del. As it was previously shown in Sicily for β-thalassemia, only three mutations account for 91% (HbA2-Yialousa, HbA2-NYU, IVS II-3′ A→G) of the overall δ-globin gene defects. HbA2-Yialousa (g.82G→T) is the most common mutation found in Sicilian population (81%) while the other eleven mutations are less frequent between 0.5 to 5.5%. These findings suggest that in Sicily δ-thalassemia is very common (2.5%) and as it was described, previously, for the β-thalassemia mutations,this also is very heterogeneous (twelve mutations). This information is noteworthy considering the implication that the interaction between β and δ-thalassemia could determine in terms of HbA2 decrease in subjects heterozygotes for β-thalassemia. HbA2 levels in δ-thalassemia and δ globin gene variants with and without interaction with α or β-globin gene mutations. The δ-alleles are all in heterozygote state except three cases with homozygosis. βA/βA αα/αα Gγ-158/Gγ 1.1 1 βA/βA αα/αα 1.7±0.2 113 βA/βA αα/αα 2.1±0.1 4 βA/βA αα/αα 0.7±0.1 3 βA/β(IVS1,110) αα/αα 3.35±0.15 2 βA/β(cd39) αα/αα 3.5 1 Hb A2-Yialousa βA/β(IVS1,1) αα/αα 3.5 1 βA/β(−87G) αα/αα 4.6 1 βA/β(−101) αα/αα 2.8 1 βA/β(IVS1,6) αα/αα 3.0±0.2 4 βA/βS αα/αα 2.7±0.1 5 βA/βA α−3.7α/αα 1.8±0.2 5 βA/βA α−20.5α/αα 1.4±0.1 2 βA/βA α−Medα/αα 1.6±0.1 2 βA/βA αNcoIα/αα 1.7±0.2 2 βA/βA αHphIα/αα 1.7±0.2 2 Hb A2-NYU βA/βA αα/αα 1.5±0.2 9 βA/β(Valletta) α−3.7α/αα 1.6 1 Hb A2-Mitsero βA/βA αα/αα 1.9±0.2 3 βA/βA α−3.7α/αα 1.6 1 Hb A2-Coburg βA/βA αα/αα 1 1 Hb A2-Fitzroy βA/βA αα/αα 1.4±0.2 3 Hb A2-Catania βA/βA αα/αα 1.2 1 Hb A2-Corleone βA/βA αα/αα 1.6 1 Hb A2-Ventimiglia βA/βA αα/αα 2 1 Hb A2-Montechiaro βA/βA αα/αα 1.3 1 Hb A2-Bagheria βA/βA αα/αα 1.7 1 7.2 Kb deletion βA/βA αα/αα 1.4±0.1 3 βA/βA αα/αα 1.5±0.2 4 IVS II-3′ βA/β(IVS1,110) αα/αα 3.3±0.2 3 βA/β αα/ααα 2.5 1 GENOTYPE δ GENOTYPEβ GENOTYPEα GENOTYPEγ HbA2% N° OF δ CARRIERS

Cathepsin C Gene Variants in Aggressive Periodontitis

2008 ◽  
Vol 87 (10) ◽  
pp. 958-963 ◽  
Author(s):  
B. Noack ◽  
H. Görgens ◽  
U. Hempel ◽  
J. Fanghänel ◽  
Th. Hoffmann ◽  
...  
Keyword(s):  
Missense Variant ◽  
Aggressive Periodontitis ◽  
Gene Variants ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Cathepsin C ◽  
Tight Linkage Disequilibrium ◽  
Tight Linkage ◽  
Healthy Control ◽  
Increased Susceptibility

Cathepsin C ( CTSC) mutations are known to cause Papillon-Lefèvre syndrome. The aim of this study was to examine the association of CTSC genotype with susceptibility to non-syndromic aggressive periodontitis. The CTSC gene was analyzed in 110 persons with generalized aggressive periodontitis in comparison with 78 control individuals, after identifying different variants in a cohort of 100 persons. Five out of 19 discovered variants were included in this association study, representing 5 single-nucleotide polymorphism groups in tight linkage disequilibrium. The relevance of genotypes on enzyme function was examined. The carrier frequency of the missense variant p.I453V was significantly increased in persons with disease compared with healthy control individuals (17.3% vs. 6.4%, p < 0.05). CTSC activity in leukocytes from individuals harboring this variant was significantly reduced (119.8 ΔOD/min*105 cells, 95% confidence interval 17.4–174.9, p = 0.018). No influence of promoter variants was found on mRNA expression. The results support the hypothesis that CTSC gene variants contribute to increased susceptibility in generalized aggressive periodontitis.

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