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  1. Proceedings of the National Academy of Sciences, India Section B: Biological Sciences
  2. Proceedings of the National Academy of Sciences, India Section B: Biological Sciences : Volume 85
  3. Proceedings of the National Academy of Sciences, India Section B: Biological Sciences : Volume 85, Issue 3, September 2015
  4. Association of Clinical and Genetic Features in Familial Mediterranean Fever Among Children from Central Anatolia, Turkey
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Proceedings of the National Academy of Sciences, India Section B: Biological Sciences : Volume 87
Proceedings of the National Academy of Sciences, India Section B: Biological Sciences : Volume 86
Proceedings of the National Academy of Sciences, India Section B: Biological Sciences : Volume 85
Proceedings of the National Academy of Sciences, India Section B: Biological Sciences : Volume 85, Issue 4, December 2015
Proceedings of the National Academy of Sciences, India Section B: Biological Sciences : Volume 85, Issue 3, September 2015
Effects of Feeder Layers, Culture Media, Conditional Media, Growth Factors, and Passages Number on Stem Cell Optimization
Toxic Effect of Fluoride on Biochemical Parameters and Collagen Metabolism in Osseous and Non-Osseous Tissues of Rats
Optimising Elicitors and Precursors to Enhance Alizarin and Purpurin Production in Adventitious Roots of Morinda citrifolia L.
Production of Extracellular Isoamylase and Endoglucanase by Entrapped Spores of Rhizopus oryzae PR7
Bioprospecting of Thermotolerant Bacteria from Hot Water Springs of Himachal Pradesh for the Production of Taq DNA Polymerase
Purification and Characterization of Extracellular Phytase from Bacillus licheniformis Isolated from Fish Gut
Dietary Administered Bacillus sp. PP9 Enhances Growth, Nutrition and Immunity in Cirrhinus mrigala (Hamilton)
Influence of Processing Variables and Storage on the Fruit Drink Developed from Taktir; Wild Fruit of Himalaya
Dietary Fat Intake and Risk of Cardiovascular Diseases in Young Adult Males
Physico-Chemical Characteristics of Maize and Sorghum as Affected by Popping
Association of Clinical and Genetic Features in Familial Mediterranean Fever Among Children from Central Anatolia, Turkey
Expression of Erythroblastic Leukemia Viral Oncogene Homolog 2 (ERBB2) from Canine Mammary Tumor
Protein Kinase C Plays an Important Role in Exaggerated Vasoconstriction Associated with Insulin Deficiency but not Resistance
Rapid Detection of Avian Infectious Bronchitis Virus by Reverse Transcriptase-Loop Mediated Isothermal Amplification
Cellular and Nuclear Toxicity of HgCl$_{2}$ to In Vitro Grown Lymphocytes from Human Umbilical Cord Blood
Anti-inflammatory Activity of Emu Oil in Indomethacin Induced Inflammatory Bowel Disease in Rats
Comparative Analysis of Cultural and PCR Based Assays for Detection of Campylobacter spp. in Human Stool Samples
Pharmacokinetics of Enrofloxacin in Emu (Dromaius novaehollandiae) Birds After Intravenous and Oral Bolus Administration
Cloning, Expression and Characterisation of Recombinant Outer Membrane Protein 16 from Brucella spp.
Doppler Ultrasonography of Common Carotid Artery and External Jugular Vein in Healthy and Reticulo-Diaphragmatic Hernia Affected Buffaloes
Industrial Fluorosis and Its Effects on Serum Biochemistry and Haemogram in Cattle of Kerala, India
Recombinant LipL32 Based Enzyme Linked Immunosorbent Assay for Seroprevalence Studies of Leptospirosis in Livestock Farmers
Histopathological Studies Targeting Comparative Efficacy of Herbal and Standard Allopathic Immunomodulators Against Visceral Larva Migrans
Seroprevalence of Babesiosis and Anaplasmosis in Apparently Healthy Large Ruminants of Punjab, India
Proceedings of the National Academy of Sciences, India Section B: Biological Sciences : Volume 85, Issue 2, June 2015
Proceedings of the National Academy of Sciences, India Section B: Biological Sciences : Volume 85, Issue 1, March 2015
Proceedings of the National Academy of Sciences, India Section B: Biological Sciences : Volume 84
Proceedings of the National Academy of Sciences, India Section B: Biological Sciences : Volume 83
Proceedings of the National Academy of Sciences, India Section B: Biological Sciences : Volume 82

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Association of Clinical and Genetic Features in Familial Mediterranean Fever Among Children from Central Anatolia, Turkey

Content Provider SpringerLink
Author Duksal, Fatma Guven, Ahmet Sami Kincir, Mehtap Cevit, Omer Oflaz, Mehmet Burhan Cınar, Ziynet Bolat, Fatih Icagasioglu, Fusun Dilara
Copyright Year 2014
Abstract The aim of the present study was to perform a genotype/phenotype and gender correlation in children in addition to investigate distribution and frequency of the Mediterranean fever gene mutations. Records of 700 children with familial Mediterranean fever living in Sivas-Central Anatolia were retrospectively reviewed. Most common clinical features were fever (100 %), abdominal pain (92.7 %), and arthritis (23.3 %). Mutations were detected in 66.7 % of patients. Simple heterozygous, compound heterozygous, and homozygous mutations were detected respectively 66.4, 8.6 and 25 % of patients. The most frequent mutations were M694V, E148Q, M680I (G/C), V726A, and A744S. The mean severity score was higher in homozygous M694V, in heterozygous M694V and in heterozygous E148Q mutations than in others. It was higher in girls than in boys. Arthritis and abdominal pain had a meaningful relation with M694V and E148Q mutations. Appendectomy and rare complications (oral aphthae, scrotal edema, Henoch Schönlein purpura, and amyloidosis) were significantly seen more in M694V and in E148Q than in other mutations. High acute phase reactant response was highest in M694V and in E148Q. Ten patients had amyloidosis and 4 of them had recurrent Henoch Schönlein purpura. This study showed that, in addition to patients with M694V mutations, patients with E148Q mutations also had a more severe clinical course. Apart from that, disease severity score was higher in girls than in boys and the co-existence of Henoch Schönlein purpura and familial Mediterranean fever is significant.
Starting Page 793
Ending Page 800
Page Count 8
File Format PDF
ISSN 03698211
Journal Proceedings of the National Academy of Sciences, India Section B: Biological Sciences
Volume Number 85
Issue Number 3
e-ISSN 22501746
Language English
Publisher Springer India
Publisher Date 2014-09-02
Publisher Place New Delhi
Access Restriction One Nation One Subscription (ONOS)
Subject Keyword Life Sciences Plant Biochemistry Nucleic Acid Chemistry Behavioral Sciences Genetic Amyloidosis Familial Mediterranean fever M694V mutation Gender
Content Type Text
Resource Type Article
Subject Environmental Science Agricultural and Biological Sciences
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