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Sample records for fever locus mefv

  1. The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination "hot-spot" at the MEFV locus.

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    Aldea, Anna; Calafell, Francesc; Aróstegui, Juan I; Lao, Oscar; Rius, Josefa; Plaza, Susana; Masó, Montserrat; Vives, Jordi; Buades, Joan; Yagüe, Jordi

    2004-04-01

    Mutations at the MEFV gene cause, with various degrees of penetrance, familial Mediterranean fever (FMF). This disease is more prevalent in the Middle East than elsewhere, and most studies have focused on those populations. However, FMF occurs also in the Western Mediterranean and these populations should be taken into account for a complete view of FMF. We have analyzed intragenic MEFV SNPs in Spanish and Chueta (descendants of converted Jews) FMF patients and controls, and this constitutes the first systematic survey of normal MEFV SNP haplotype structure and variability. Our findings have allowed us to systematize the nomenclature of MEFV haplotypes and show that there is strong linkage disequilibrium (LD) at the MEFV locus and an intragenic recombination hot spot. The high local LD, regardless the recombination hot spot, is responsible for the limited diversity of the MEFV control haplotypes found in the Spanish population and it suggests that it may be a common feature to all Mediterranean populations. The MEFV mutation spectrum in Spain is quite diverse, and similar to those of France and Italy. On the contrary, the Chueta spectrum was poorer and closer to that of North African Jews, suggesting a direct connection with the Jewish diaspora.

  2. Familial Mediterranean fever without MEFV mutations: a case–control study

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    Ben-Zvi, Ilan; Herskovizh, Corinne; Kukuy, Olga; Kassel, Yonatan; Grossman, Chagai; Livneh, Avi

    2015-01-01

    Background Although familial Mediterranean fever (FMF) was originally defined as an autosomal recessive disorder, approximately 10–20% of FMF patients do not carry any FMF gene (MEFV) mutations. Fine phenotype characterization may facilitate the elucidation of the genetic background of the so called “FMF without MEFV mutations”. In this study we clinically and demographically characterize this subset. Methods MEFV mutation-negative FMF and control patients were recruited randomly from a cohor...

  3. MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever

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    Farhad Salehzadeh

    2015-01-01

    Full Text Available Familial Mediterranean Fever (FMF is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the Mediterranean Sea. It is characterized by recurrent episodes of fever and polyserositis and rash. Recently, MEFV gene analysis determines the definitive diagnosis of FMF. In this study, we analyzed 12 MEFV gene mutations in more than 200 FMF patients, previously diagnosed by Tel-Hashomer clinical criteria, in northwest of Iran, located in the proximity of the Mediterranean Sea. In the northwest of Iran (Ardabil, 216 patients with FMF diagnosis, based on Tel-Hashomer criteria, referred to the genetic laboratory to be tested for the following mutations; P369S, F479L, M680I(G/C, M680I(G/A, I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q. All patients were screened for MEFV gene mutations by a reverse hybridization assay (FMF Strip Assay, Vienna lab, Vienna, Austria according to manufacturer’s instructions. Among these FMF patients, no mutation was detected in 51 (23/62% patients, but 165 (76/38% patients had one or two mutations, 33 patients (15/28% homozygous, 86 patients (39/81% compound heterozygous and 46 patients (21/29% were heterozygous. The most common mutations were M694V (23/61%, V726A (11/11% and E148Q (9/95% respectively. MEFV gene mutations showed similarities and dissimilarities in different ethnic groups, while it is common among Arabs and Armenians genotype. Since common 12 MEFV gene analysis could not detect up to 50% of our patients, who had FMF on the basis of clinical Tel-Hashomer criteria, clinical criteria is still the best way in the diagnosis of FMF in this area.

  4. Common Mediterranean Fever (MEFV Gene Mutations Associated with Ankylosing Spondylitis in Turkish Population

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    Serbulent Yigit

    2012-01-01

    Full Text Available Ankylosing spondylitis (AS is a common inflammatory rheumatic disease. Mediterranean fever (MEFV gene, which has already been identified as being responsible for familial Mediterranean fever (FMF, is also a suspicious gene for AS because of the clinical association of these two diseases. The aim of this study was to explore the frequency and clinical significance of MEFV gene mutations (M694V, M680I, V726A, E148Q and P369S in a cohort of Turkish patients with AS. Genomic DNAs of 103 AS patients and 120 controls were isolated and genotyped using polymerase chain reaction (PCR and restriction fragment length polymorphism (RFLP methods. There was a statistically significant difference of the MEFV gene mutation carrier rates between AS patients and healthy controls (p = 0.004, OR: 2.5, 95% CI: 1.32–4.76. This association was also observed in allele frequencies (p = 0.005, OR: 2.3, 95% CI: 1.27–4.2. A relatively higher frequency was observed for M694V mutation in AS patients than controls (10.7% versus 4.2% , p = 0.060. There were no significant differences between MEFV mutation carriers and non-carriers with respect to the clinical and demographic characteristics. The results of this study suggest that MEFV gene mutations are positively associated with a predisposition to develop AS.

  5. A case of familial Mediterranean fever who complained of periodic fever and abdominal pain diagnosed by MEFV gene analysis.

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    Ogita, Chie; Matsui, Kiyoshi; Kisida, Dai; Kakudou, Mariko; Yazaki, Masahide; Nakamura, Akinori; Azuma, Kouta; Tsuboi, Kazuyuki; Abe, Takeo; Yokoyama, Yuichi; Furukawa, Tetsuya; Maruoka, Momo; Tamura, Masao; Yoshikawa, Takahiro; Saito, Atsushi; Nishioka, Aki; Sekiguchi, Masahiro; Azuma, Naoto; Kitano, Masayasu; Tsunoda, Shinichiro; Hashimoto-Tamaoki, Tomoko; Sano, Hajime

    2016-01-01

      Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease caused by Mediterranean FeVergene (MEFV) mutations on Chromosome 16, and characterized by periodic fever of and serositis. FMF is the result of gain-of-function mutations in pyrin that lead to interleukin-1β activation. FMF can be classified as "typical" and "atypical" types based on clinical finding and genetic screening. Although MEFV genotyping has enabled FMF to be confirmed in some cases, the diagnosis remains predominantly clinical since genotyping has shown that the disease is characterized by variable manifestations in Japanese. In 1976, the first report performed on the case of Japanese FMF with periodic fever of and serositis. Since 2002, genetic analyses are performed on Japanese FMF patients by K. Shiozaki et al. and N. Tomiyama et al. In our case, she was a 25-year-old Japanese woman with at periodic fever and abdominal pain. MEFV gene analysis demonstrated a heterozygous mutation of variant M694I, leading to a diagnosis of FMF. After the increase dose (up to 3 mg/day) of colchicine, periodic fever and abdominal pain disappeared. It is the important candidate of FMF for differential diagnosis with unexplained periodic fever and serositis, such as our case.

  6. 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls

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    Jalkh Nadine

    2010-06-01

    Full Text Available Abstract Background Familial Mediterranean fever is a recessive autoinflammatory disease frequently encountered in Armenians, Jews, Arabs and Turks. The MEFV gene is responsible for the disease. It encodes a protein called pyrin/marenostrin involved in the innate immune system. A large number of clinically diagnosed FMF patients carry only one MEFV mutation. This study aims at studying the MEFV gene splicing pattern in heterozygous FMF patients and healthy individuals, in an attempt to understand the mechanism underlying the disease in these patients. Methods RNA was extracted from peripheral blood leucocytes of 41 FMF patients and 34 healthy individuals. RT-PCR was then performed, and the amplified products were migrated on a polyacrylamide electrophoresis gel, characterized by gel extraction of the corresponding bands followed by sequencing. Results Five novel splicing events were observed in both patients and controls deleting either exons 3, 4 (del34, or exons 2, 3, 4 (del234, or exons 2, 3, 4, 5 (del2345 or exon7 (del7 or exons 7 and 8 (del78. Conclusions The observation of such qualitative variability in the expression of the MEFV gene suggests a complex transcriptional regulation. However, the expression of these novel transcripts in both patients and controls is not in favour of a severe pathogenic effect.

  7. MEFV mutations and their relation to major clinical symptoms of Familial Mediterranean Fever.

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    Cekin, Nilgun; Akyurek, Murat Eser; Pinarbasi, Ergun; Ozen, Filiz

    2017-08-30

    Familial Mediterranean fever is a common hereditary disease in Turkey. To date, different mutational spectrum of MEFV gene was observed in studies carried out in different regions of Turkey but in most of these studies association of clinical symptoms of FMF to mutant genotypes have not been investigated in details. Here we report the MEFV gene variations in exons 2, 3, 5 and 10 and their relations to major clinical symptoms of FMF in 514 unrelated (245 males and 269 females) Turkish patients. MEFV mutations were found in 45% (n=230) of patients and 55% (n=284) of patients did not have any mutations. One hundred and thirty-seven (60%) patients were heterozygous, 57 (24.7%) patients were compound heterozygous, 33 (14%) patients were homozygous and 3 (1.3%) patients were having a complex genotype. Allele frequencies of MEFV mutations were M694V (48%), E148Q (18%), M680I (15%), V726A (12.5%), P369S (3.3%), R761H (0.9), K695R (0.9), E148V (0.9) and A744S (0.5%). Abdominal pain (76%) and fever (58%) were two most seen complications among patients followed by arthritis (28%) and chest pain (19%). Almost all major clinical symptoms of FMF were higher in patients with one or more M694V or M680I mutant allele. In contrast, patients having E148Q or V726A mutant allele showed fewer clinical FMF symptoms. Patients with P369S have higher abdominal pain, chest pain and fever than expected. Arthritis was high in K695R heterozygous genotype. One hundred and eighteen patients were carrying more than one polymorphic allele. The most common polymorphism was R202Q (13%). In addition, a novel heterozygous polymorphism at 564th nucleotide (C>T) of exon2 were found in 2 patients. Copyright © 2017 Elsevier B.V. All rights reserved.

  8. The role of MEFV mutations in the concurrent disorders observed in patients with familial Mediterranean fever

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    Güncan, Sabri; Bilge, N. Şule Y.; Cansu, Döndü Üsküdar; Kaşifoğlu, Timuçin; Korkmaz, Cengiz

    2016-01-01

    Objective This study aimed to investigate the frequency in which familial Mediterranean fever (FMF) coexists with other diseases and determine whether Mediterranean fever (MEFV) gene mutations are involved in such coexistence. Material and Methods In total, 142 consecutive patients with FMF investigated for MEFV mutation were enrolled in this study [Female: 87; Male: 55, mean age 32±12 years (11–62)]. All the patients were questioned for the presence of concurrent disorders, and the medical records of these patients were revised retrospectively. A previous diagnosis of inflammatory disorder other than FMF was considered true if it met the relevant criteria. MEFV mutations were divided into 2 groups, namely M694V and its subgroup (homozygous or heterozygous) (Group I) and others (Group II). Compound heterozygosity for M694V mutation was included in Group II to form a homogeneous group for Group I. Group I and Group II were compared according to phenotypical features. The presence of MEFV mutation was investigated in exons 2, 3, 5, and 10 by the multiplex-PCR reverse hybridization method. Results Concomitant disorders were found in 17 of 73 patients with FMF (23%) in Group I and 5 of 56 patients (8.9%) in Group II (p=0.04). Concomitant disorders in Group I were as follows: 7 cases of amyloidosis, 2 cases of Behcet’s disease (BD), 4 cases of ankylosing spondylitis (AS), 1 case of antiphospholipid syndrome, 1 case of Henoch–Schonlein purpura (HSP), 1 case of combination of psoriatic arthritis, HSP, and membranoproliferative glomerulonephritis, and 1 case of AS and amyloidosis. In Group II, the following disorders were found: 1 case of amyloidosis, 1 case of BD, 1 case of AS, 1 case of ulcerative colitis, and 1 case of vitiligo. Conclusion The presence of M694V mutation may predispose patients with FMF to developing other inflammatory disorders. PMID:27733942

  9. A homozygous M694V mutation of the MEFV gene in a patient with periodic fever and thoracic pain

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    van de Loosdrecht, AA; van der Kleij, FGH; van Minnen, CA; Hazenberg, BPC

    2000-01-01

    A Turkish patient with episodic fever and thoracic pain is described in whom a homozygous M694V mutation of the MEFV gene confirmed the clinical diagnosis of familial Mediterranean fryer. The role of DNA analysis is discussed with respect to understanding the pathogenesis of the fever and assessing

  10. A homozygous M694V mutation of the MEFV gene in a patient with periodic fever and thoracic pain

    NARCIS (Netherlands)

    van de Loosdrecht, AA; van der Kleij, FGH; van Minnen, CA; Hazenberg, BPC

    A Turkish patient with episodic fever and thoracic pain is described in whom a homozygous M694V mutation of the MEFV gene confirmed the clinical diagnosis of familial Mediterranean fryer. The role of DNA analysis is discussed with respect to understanding the pathogenesis of the fever and assessing

  11. Evaluation of the MEFV gene mutations and clinical symptoms in186 patients diagnosed as familial Mediterranean fever

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    Mahmut Abuhandan

    2015-03-01

    Full Text Available Objective: This retrospective study aimed to evaluate the clinical symptoms and the MEFV mutation ratios of the 186 patients diagnosed as Familial Mediterranean Fever. Methods: Age, sex, admission symptoms, family history, and the MEFV mutation test cases of the 186 patients followed as Familial Mediterranean Fever were evaluated retrospectively. MEFV gene was analyzed with DNA sequence analysis after amplifying the exons 1.-10. using PCR method. Results: There were 84 male and 102 female in the study, and the mean age was 9.45 ± 4.40 years. 26.9% of the patients had close relationship between the parents, and 25.8% had a family history of AAA. The most common symptoms were abdominal pain (92.5%, fever (89.2%, and arthralgia (24.2% respectively. The most common mutations were R202Q (33.3%, M694V (22.6%, E148Q (22%, V726A (7.5%, R761H (4.3%, M680I (3.8%, and the others (6.5% respectively. 21.5% homozygous, 67.7% heterozygous, and 10.8% compound heterozygous mutations of AAA were detected. Conclusion: FMF is a common disease in our country and has difficulties in the differential diagnosis. In recent years molecular genetically methods are considered more commonly for the diagnosis. The results of this study showed that our AAA patients have a wide range of mutations, and supported the heterogeneity of MEFV gene mutations in AAA.

  12. The Risk of Familial Mediterranean Fever in MEFV Heterozygotes: A Statistical Approach

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    Jéru, Isabelle; Hentgen, Véronique; Cochet, Emmanuelle; Duquesnoy, Philippe; Le Borgne, Gaëlle; Grimprel, Emmanuel; Stojanovic, Katia Stankovic; Karabina, Sonia; Grateau, Gilles; Amselem, Serge

    2013-01-01

    Background Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder due to MEFV mutations and one of the most frequent Mediterranean genetic diseases. The observation of many heterozygous patients in whom a second mutated allele was excluded led to the proposal that heterozygosity could be causal. However, heterozygosity might be coincidental in many patients due to the very high rate of mutations in Mediterranean populations. Objective To better delineate the pathogenicity of heterozygosity in order to improve genetic counselling and disease management. Methods Complementary statistical approaches were used: estimation of FMF prevalence at population levels, genotype comparison in siblings from 63 familial forms, and genotype study in 557 patients from four Mediterranean populations. Results At the population level, we did not observe any contribution of heterozygosity to disease prevalence. In affected siblings of patients carrying two MEFV mutations, 92% carry two mutated alleles, whereas 4% are heterozygous with typical FMF diagnosis. We demonstrated statistically that patients are more likely to be heterozygous than healthy individuals, as shown by the higher ratio heterozygous carriers/non carriers in patients (p<10−7–p<0.003). The risk for heterozygotes to develop FMF was estimated between 2.1×10−3 and 5.8×10−3 and the relative risk, as compared to non carriers, between 6.3 and 8.1. Conclusions This is the first statistical demonstration that heterozygosity is not responsible for classical Mendelian FMF per se, but constitutes a susceptibility factor for clinically-similar multifactorial forms of the disease. We also provide a first estimate of the risk for heterozygotes to develop FMF. PMID:23844200

  13. Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever

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    Ozdogan Huri

    2011-08-01

    Full Text Available Abstract Background MEFV mutations and decreased expression level of the gene are related to FMF pathology. DNA methylation at CpG islands is a well-known mechanism for transcriptional silencing. MEFV has a CpG island, spanning a part of the first intron and the whole of the second exon of the gene covering 998 bp region. Here, we tested the hypothesis that the MEFV transcript level in FMF patients correlates with its methylation level, and methylation, by allowing transcription silencing, has a role in FMF ethiopathogenesis. Methods The study group was composed of pediatric FMF patients (N = 51 and age-gender matched healthy controls (N = 21. The relative expression level of MEFV was assessed via quantitative real-time PCR (qRT-PCR and bisulfite sequencing (BS was performed to analyse the methylation level quantitatively. Results MEFV expression in FMF patients were decreased compared to healthy controls (P = 0.031. Methylation level of exon 2 of MEFV was found to be slightly higher in FMF patients compared to healthy controls (76% versus 74% (P = 0.049. The expression level of the MEFV was negatively correlated with the methylation level of the CpG island in both FMF and healthy controls groups (cor = -0.29, P = 0.041 but more so in the FMF only group (cor = -0.36, P = 0.035. Conclusions In this study, the relation between reduced MEFV expression level and FMF was confirmed. Observed slight increase in methylation in FMF patients, and correlation of methylation with expression might be indicative of its role in FMF, however a larger dataset is needed to confirm our preliminary findings.

  14. [MEFV gene mutation spectrum in familial Mediterranean fever (FMF) : a single center study in the Aegean region of Turkey].

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    Coker, I; Colak, A; Yolcu, I; Türkön, H; Nalbantoglu, S M

    2011-08-01

    Familial Mediterranean fever (FMF), an autosomal recessive autoinflammatory disorder, is characterized by recurrent, self-limiting fever and serositis which is frequently seen in Mediterranean populations. In this study, we retrospectively evaluated the MEFV gene mutation distribution of 883 citizens of the Aegean region with preliminary diagnosis of FMF who were referred to the Tepecik Research and Education Hospital's Tissue Typing and Molecular Diagnostic Laboratory (Izmir, Turkey) between 2006 and 2009. The FMF Strip Assay® (ViennaLab Diagnostics, Vienna, Austria) was used to determine the 12 most common MEFV gene mutations in patients prediagnosed with FMF. Allelic frequencies of the major mutations in the mutation positive groups, including M694V, E148Q, M680I(G>C), and V726A, accounted for 48.4, 16.5, 13.5, and 9.7%, respectively. The M694V mutation was found to be the most common mutation among FMF patients in the Aegean region, which is in accordance with mutation studies reported from other regions of the country and different ethnic populations. An English full-text version of this article is available at SpringerLink as supplemental.

  15. Apoptosis-associated speck-like protein containing a CARD (ASC) expression profiles in familial Mediterranean fever (FMF) patients with different MEFV mutation patterns.

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    Nalbantoglu, S; Tanyolac, B; Berdeli, A

    2013-01-01

    The inflammasome complex and the inflammatory pathway have been implicated in the pathogenesis of the most common autoinflammatory disorder, familial Mediterranean fever (FMF). Pyrin, the protein product of the FMF gene MEFV, interacts with the inflammasome complex adaptor protein ASC/PYCARD (apoptosis-associated speck-like protein with a CARD). Pyrin and ASC can both function as either inducers or suppressors of the cellular inflammatory response. We aimed to characterize ASC-induced gene expression profiles in FMF patients with different MEFV mutation patterns. A total of 165 Caucasian patients with clinical and molecular FMF diagnoses were enrolled in the study. ASC gene expression was quantified by real-time quantitative reverse transcriptase polymerase chain reaction (qRT-PCR). ASC mRNA expression was increased in the MEFV mutation-positive group compared to the mutation-negative group (p = 0.001). The fold changes of ASC expression in the M694V homozygous (p = 0.02), M694V heterozygous (p = 0.012), compound heterozygous (p = 0.002), and R202Q/P369S/R408Q (p = 0.00) groups relative to the MEFV mutation-negative group were +2.4, +2.7, +3, and +3.4, respectively. qRT-PCR did not reveal a significant difference in ASC mRNA expression levels among the MEFV mutation-positive groups (p > 0.05). ASC mRNA expression was up-regulated in patients carrying MEFV mutations independent of mutation type. There was no significant relationship between specific MEFV genotypes and the level of ASC expression in the patient group analysed. Thus, the findings of this work may suggest a crucial relationship between mutant MEFV/pyrin and remarkable ASC up-regulation in FMF inflammation.

  16. A study of familial Mediterranean Fever (MEFV) gene mutations in Egyptian children with type 1 diabetes mellitus.

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    Anwar, Ghada Mohammad; Fouad, Hanan M; Abd El-Hamid, Amal; Mahmoud, Faten; Musa, Noha; Lotfi, Hala; Salah, Nermine

    2015-01-01

    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. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  17. The detection of a novel insertion mutation in exon 2 of the MEFV gene associated with familial mediterranean fever in a moroccan family.

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    Mejtoute, Touhami; Sayel, Hanane; El-Akhal, Jamila; Moufid, Fatima Z; Bouguenouch, Laila; El Bouchikhi, Ihssane; Hida, Mustapha; Couissi, Driss; Ouldim, Karim

    2017-01-01

    Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease that is inherited in an autosomal recessive manner and is caused by mutations in the MEFV gene. As the name indicates, FMF occurs within families and is more common in individuals of Mediterranean descent than in persons of any other ethnicity. To date, 314 mutations have been reported. We studied a Moroccan family with a total of five members, including a mother who was presenting with symptoms of FMF, while her four children remained asymptomatic. The five patients were screened by DNA sequencing of exon 2 and exon 10 of the MEFV gene. Then, complete exome sequencing analysis of the MEFV gene was done for the patients in whom a novel mutation was detected. This analysis identified a novel single base Cytosine (C) insertion mutation in the coding region of the MEFV gene, named c.441dupC (p. Glu148Argfs*5 or E148RfsX5), which resulted in a mutated Pyrin/Marenostrin protein. This is the first report of a new mutation in exon 2 of the MEFV gene in a Moroccan family. This novel insertion mutation may provide important information for further studies of FMF pathogenesis.

  18. Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis.

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    Shinar, Yael; Tohami, Tali; Livneh, Avi; Schiby, Ginette; Hirshberg, Abraham; Nagar, Meital; Goldstein, Itamar; Cohen, Rinat; Kukuy, Olga; Shubman, Ora; Sharabi, Yehonatan; Gonzalez-Roca, Eva; Arostegui, Juan I; Rechavi, Gideon; Amariglio, Ninnette; Salomon, Ophira

    2015-06-30

    A study was designed to identify the source of fever in a patient with post-polycythemia myelofibrosis, associated with clonal Janus Kinase 2 (JAK2) mutation involving duplication of exon 12. The patient presented with 1-2 day long self-limited periodic episodes of high fever that became more frequent as the hematologic disease progressed. After ruling out other causes for recurrent fever, analysis of the pyrin encoding Mediterranean fever gene (MEFV) was carried out by Sanger sequencing in peripheral blood DNA samples obtained 4 years apart, in buccal cells, laser dissected kidney tubular cells, and FACS-sorted CD3-positive or depleted mononucleated blood cells. Hematopoeitc cells results were validated by targeted deep sequencing. A Sanger sequence based screen for pathogenic variants of the autoinflammatory genes NLRP3, TNFRSF1A and MVK was also performed. A rare, c.1955G>A, p.Arg652His MEFV gene variant was identified at negligible levels in an early peripheral blood DNA sample, but affected 46 % of the MEFV alleles and was restricted to JAK2-positive, polymorphonuclear and CD3-depleted mononunuclear DNA samples obtained 4 years later, when the patient experienced fever bouts. The patient was also heterozygous for the germ line, non-pathogenic NLRP3 gene variant, p.Q705K. Upon the administration of colchicine, the gold standard treatment for familial Mediterranean fever (FMF), the fever attacks subsided. This is the first report of non-transmitted, acquired FMF, associated with a JAK2 driven clonal expansion of a somatic MEFV exon 10 mutation. The non-pathogenic germ line NLRP3 p.Q705K mutation possibly played a modifier role on the disease phenotype.

  19. The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population.

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    Battal, F; Silan, F; Topaloğlu, N; Aylanç, H; Yıldırım, Ş; Köksal Binnetoğlu, F; Tekin, M; Kaymaz, N; Ozdemir, O

    2016-12-01

    The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 60 children diagnosed with familial Mediterranean fever (FMF) and to compare the phenotype-genotype correlation. Genomic DNA was isolated by the spin-column method from peripheral blood samples (collected in vacutainers containing EDTA) and buccal smears. The MEFV gene profiles for the current FMF cohort were genotyped by pyrosequencing and direct Sanger sequencing techniques for the target pathogenic variants. The most prominent clinical symptoms were abdominal pain (53.4%), fever (23.4%) and arthritis (23.3%). Eighteen different pathogenic variants were identified and the most frequent were p.Met694Val (20.0%), p.Glu148Gln (13.3%), p.Met680 Ile (11.7%) and p.Arg202Gln (11.7%). Abdominal pain, fever and arthritis were the most common presenting clinical characteristics. Results showed that not only clinical characteristics, but also genotyping of the MEFV gene is needed to establish the correct diagnosis of FMF in children and other family members.

  20. Mediterranean fever (MEFV) Variant P369S/R408Q in a Patient with Entero-Behçet's Disease who Successfully Responded to Treatment with Colchicine

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    Fujikawa, Keita; Migita, Kiyoshi; Nagasato, Akio; Tsukada, Toshiaki; Kawakami, Atsushi; Eguchi, Katsumi

    2014-01-01

    A 57-year-old Japanese woman who had been diagnosed as having entero-Behçet's disease nine years earlier was admitted with a persistent high-grade fever. An Mediterranean fever (MEFV) gene analysis revealed the compound heterozygous P369S-R408Q variant. She was treated with colchicine, and her symptoms immediately improved. Prednisolone (PSL) was added to treat the punched-out ulcers in the terminal ileum, leading to remission. There has been no relapse since the PSL was discontinued. In Behç...

  1. Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease

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    Kirino, Yohei; Zhou, Qing; Ishigatsubo, Yoshiaki; Mizuki, Nobuhisa; Tugal-Tutkun, Ilknur; Seyahi, Emire; Özyazgan, Yilmaz; Ugurlu, Serdal; Erer, Burak; Abaci, Neslihan; Ustek, Duran; Meguro, Akira; Ueda, Atsuhisa; Takeno, Mitsuhiro; Inoko, Hidetoshi; Ombrello, Michael J.; Satorius, Colleen L.; Maskeri, Baishali; Mullikin, James C.; Sun, Hong-Wei; Gutierrez-Cruz, Gustavo; Kim, Yoonhee; Wilson, Alexander F.; Kastner, Daniel L.; Gül, Ahmet; Remmers, Elaine F.

    2013-01-01

    Genome-wide association studies (GWAS) are a powerful means of identifying genes with disease-associated common variants, but they are not well-suited to detecting genes with disease-associated rare and low-frequency variants. In the current study of Behçet disease (BD), nonsynonymous variants (NSVs) identified by deep exonic resequencing of 10 genes found by GWAS (IL10, IL23R, CCR1, STAT4, KLRK1, KLRC1, KLRC2, KLRC3, KLRC4, and ERAP1) and 11 genes selected for their role in innate immunity (IL1B, IL1R1, IL1RN, NLRP3, MEFV, TNFRSF1A, PSTPIP1, CASP1, PYCARD, NOD2, and TLR4) were evaluated for BD association. A differential distribution of the rare and low-frequency NSVs of a gene in 2,461 BD cases compared with 2,458 controls indicated their collective association with disease. By stringent criteria requiring at least a single burden test with study-wide significance and a corroborating test with at least nominal significance, rare and low-frequency NSVs in one GWAS-identified gene, IL23R (P = 6.9 × 10−5), and one gene involved in innate immunity, TLR4 (P = 8.0 × 10−4), were associated with BD. In addition, damaging or rare damaging NOD2 variants were nominally significant across all three burden tests applied (P = 0.0063–0.045). Furthermore, carriage of the familial Mediterranean fever gene (MEFV) mutation Met694Val, which is known to cause recessively inherited familial Mediterranean fever, conferred BD risk in the Turkish population (OR, 2.65; P = 1.8 × 10−12). The disease-associated NSVs in MEFV and TLR4 implicate innate immune and bacterial sensing mechanisms in BD pathogenesis. PMID:23633568

  2. A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?

    Science.gov (United States)

    Aldea, Anna; Campistol, Josep M; Arostegui, Juan I; Rius, Josefa; Maso, Montserrat; Vives, Jordi; Yagüe, Jordi

    2004-01-01

    Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring short attacks of fever and serositis. Secondary AA amyloidosis is the worst complication of the disease and often determines the prognosis. The MEFV gene, on chromosome 16p13.3, is responsible for the disease and around 30 mutations have been reported to date. Colchicine is the standard FMF treatment today, and prevents both attacks and amyloid deposition in 95% of patients. Here we describe a three-generation Spanish kindred with five family members affected by a severe periodic inflammatory disorder associated with renal AA amyloidosis and colchicine unresponsiveness. Clinical diagnosis of definite FMF disease was made based on the Tel-Hashomer criteria set. Genetic analyses revealed that all subjects were heterozygous for the new H478Y MEFV variant, segregating with the disease. In addition, mutations in the TNFRSF1A and CIAS1/PYPAF1/NALP3 genes, related to the dominantly inherited autoinflammatory periodic syndromes, were ruled out. However, the dominant inheritance of the disease, the long fever episodes with a predominant joint involvement, and the resistance to colchicine in these patients raise the question of whether the periodic syndrome seen in this kindred is a true FMF disease with unusual manifestations or rather another MEFV-associated periodic syndrome. We conclude that the new H478Y MEFV mutation is the dominant pathological variant causing the inflammatory periodic syndrome in this kindred and that full-length analyses of the MEFV gene are needed to obtain an adequate diagnosis of patients with clinical suspicion of a hereditary periodic fever syndrome, especially those from non-ancestral populations.

  3. Specific glycosylation of α1-acid glycoprotein characterises patients with familial Mediterranean fever and obligatory carriers of MEFV

    NARCIS (Netherlands)

    Poland, D.C.W.; Drenth, J.P.H.; Rabinovitz, E.; Livneh, A.; Bijzet, J.; Van het Hof, B.; Van Dijk, W.

    2001-01-01

    Background - Familial Mediterranean fever (FMF) is a periodic febrile disorder, characterised by fever and serositis. The acute phase response during attacks of FMF results from the release of cytokines, which in turn induce increased expression and changed glycosylation of acute phase proteins. A

  4. Specific glycosylation of α1-acid glycoprotein characterises patients with familial Mediterranean fever and obligatory carriers of MEFV

    NARCIS (Netherlands)

    Poland, D.C.W.; Drenth, J.P.H.; Rabinovitz, E.; Livneh, A.; Bijzet, J.; Van het Hof, B.; Van Dijk, W.

    2001-01-01

    Background - Familial Mediterranean fever (FMF) is a periodic febrile disorder, characterised by fever and serositis. The acute phase response during attacks of FMF results from the release of cytokines, which in turn induce increased expression and changed glycosylation of acute phase proteins. A r

  5. The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey.

    Science.gov (United States)

    Kilinc, Metin; Ganiyusufoglu, Eda; Sager, Hatice; Celik, Ahmet; Olgar, Seref; Cetin, Gozde Yildirim; Davutoglu, Mehmet; Altunoren, Orcun

    2016-01-01

    Familial Mediterranean fever (FMF) is defined as an inherited and autosomal recessive disease. Many researches have been done about this subject, and we believe that it should be necessary to focus on phenotype-genotype correlation, especially novel mutation types. We aim to announce the results of FMF sequence analysis in Kahramanmaras/Turkey. The number of participants is 380 males and 451 females who clinically diagnosed as FMF subjects of different age groups. Genomic sequences of exons 2 and 10 and in some cases exon 3 of the MEFV gene were scanned for mutations by sequence analyzer. The most common mutation identified in 230 (57.07 %) patients is heterozygous. The frequencies of mutation types in heterozygous subjects are R202Q (39.13 %), E148Q (18.70 %), M680I (16.52 %), M694V (13.91 %), and V726A (4.78 %), respectively. The most striking point among the compound heterozygous subjects is R202Q/M694V mutation type found at the highest rate (32 subjects). Fever and peritonitis are the most frequent signs of homozygous M694V and combine heterozygous mutations. Interestingly, the rate of homozygous mutation types (M694V/M694V+ R202Q/R202Q) is 96.70 % among all compound homozygous mutation types. The most frequent rate of homozygous patients is M680I mutation types (68.42 % in all homozygous mutation types). Two novel mutations were found in this study: N206K (p.Asn206Lys) and S208T (p.Ser208Tyr). Our findings in this study on the FMF sequence analysis are different from the results obtained from the other regions of Turkey.

  6. MEFV gene variations in patients with systemic lupus erythematosus.

    Science.gov (United States)

    Erer, Burak; Cosan, Fulya; Oku, Basar; Ustek, Duran; Inanc, Murat; Aral, Orhan; Gul, Ahmet

    2014-01-01

    The aim of this study was to investigate the frequency of familial Mediterranean fever (FMF)-associated MEFV gene variations in patients with systemic lupus erythematosus (SLE). The study group comprised 190 SLE patients and 101 healthy controls of Turkish origin with no clinical features of FMF. All individuals were genotyped for the four most common MEFV gene variations (M694V, M680I, V726A and E148Q) by PCR-restriction fragment length polymorphism analysis. The frequency of carrying any of the four MEFV gene variations under study was 15 % in patients with SLE and 10 % in the healthy controls (p = 0.23). After the exclusion of the less penetrant E148Q variation, re-analysis for the three penetrant mutations revealed a significant association between exon 10 variations and pericarditis [p = 0.038, odds ratio (OR) 3.5, 95 % confidence interval (CI) 1.0-12.1], and pleural effusion (p = 0.043, OR 5.2, 95 % CI 0.8-30.9). No significant association was detected between the MEFV gene variations and a higher acute phase response. The MEFV gene variations analyzed in our study do not seem to increase the overall susceptibility to SLE and do not have any strong association with its clinical manifestations. The possibility of a modest effect of penetrant exon 10 MEFV variants on the development of serosal effusions needs to be explored in a larger series of patients.

  7. Genetic Analysis of MEFV Gene Pyrin Domain in Patients With Behçet's Disease

    Directory of Open Access Journals (Sweden)

    2006-01-01

    Full Text Available Objectives. Behçet's disease (BD is a systemic vasculitis with recurrent oral and genital ulcers and uveitis. MEFV gene, which is the main factor in familial Mediterranean fever (FMF, is also reported to be a susceptibility gene for BD. The pyrin domain of MEFV gene is a member of death-domain superfamily and has been proposed to regulate inflammatory signaling in myeloid cells. This study was designed to determine if mutations in pyrin domain of MEFV gene are involved in BD. Methods. We analyzed the pyrin domain of MEFV gene in 54 Turkish patients with BD by PCR-analysis and direct sequencing. Results. Neither deletion or insertion mutations nor point mutations in pyrin domain were found in any patient. Conclusion. Although pyrin gene mutations have been reported in patients with BD, pyrin domain is not mutated. However, alterations in other regions of MEFV gene and interaction between pyrin domains are needed to be further investigated.

  8. MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA.

    Science.gov (United States)

    Dagan, Efrat; Gershoni-Baruch, Ruth; Khatib, Ihab; Mori, Adi; Brik, Riva

    2010-03-01

    PFAPA is a periodic fever disease, of unknown etiology, characterized by aphthous stomatitis, pharyngitis and cervical adenitis. To inquire whether genes implicated in other auto-inflammatory diseases might be involved in its pathogenesis, predominant mutations in the genes causing familial Mediterranean fever, TNF receptor-associated periodic fever syndrome, Crohn's disease and Muckel-Wells syndrome were analyzed in PFAPA patients. Patients (n = 57) with PFAPA, according to previously published criteria were recruited, at the Meyer Children Hospital during 2006-2007. Clinical information was complemented during physicians-parents encounter. Predominant mutations in MEFV, TNF1rA, CARD15/NOD2 and NLRP3 genes were tested. Mean age at diagnosis was 30.64 +/- 16.4 months. Boys (n = 33; 58%) were diagnosed earlier than girls (n = 21; 42%) at 26.18 +/- 13.83 and 36.41 +/- 18.32 months, respectively (P = 0.05). Fifteen patients (27%) carried an MEFV mutation; two patients (3.6%) a CARD15 mutation, one patient (1.8%) a variance in TNF1rA and another had both an MEFV and a CARD15 mutation. Clinical symptoms were equally manifested in carriers and non-carriers. The high carrier rate of MEFV mutations in our PFAPA cases compares well with that of the general population in Israel. It is debated whether MEFV mutations, when mediated by the presence of additional modifiers, may expose a transient fever condition, namely PFAPA.

  9. PFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience.

    Science.gov (United States)

    Salehzadeh, Farhad; Vahedi, Maryam; Hosseini-Asl, Saeid; Jahangiri, Sepideh; Habibzadeh, Shahram; Hosseini-Khotbesara, Mahsa

    2014-02-01

    Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Although PFAPA is an auto inflammatory disease, it doesn't have genetic basis such as other periodic fevers. This study evaluates the 12 common MEFV gene mutations in patients with PFAPA syndrome. 21 patients with PFAPA syndrome who had diagnostic criteria were enrolled in this study and 12 common MEFV gene mutations i.e. P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q evaluated. All the patients were screened for MEFV gene mutations by a reverse hybridization assay (FMF Strip Assay, Vienna lab, Vienna, Austria) according to the instructions provided by the manufacturer. Findings : The age of patients was between 6 months to 14 years, and 15 were males. Seven patients had heterozygote and one had compound heterozygote (K695R, V725A) mutation. There were 4 alleles M694V, 3 alleles V726A, 1 allele E148Q and 1 allele K694R. No significant difference existed between mutated patients with non-mutated in symptoms like aphthous and stomatitis, duration of attacks, episodes of fever and response to treatment. Gaslini score test was not helpful to predict the probability of gene mutations. About 30 percent of patients had MEFV gene mutations but these mutations did not play a main role in presentation of PFAPA symptoms.

  10. [Heterozygote forms of familial Mediterranean fever can be manifested in adults as myofacial pain syndrome].

    Science.gov (United States)

    Meilinger, A; Burger, M; Peter, H-H

    2015-08-01

    Familial Mediterranean fever (FMF) is a disease characterized by recurrent fever, serositis, arthritis and unspecific myalgia. It is prevalent among Mediterranean people and has been shown to be associated with mutations in the Mediterranean fever (MEFV) gene which, encodes pyrin a regulatory protein of the inflammasome. As heterozygous mutations in MEFV can be associated with only mild inflammatory symptoms, such as arthralgia or chronic fibromyalgic pain, FMF may be underdiagnosed in the current diagnostic work-up of musculoskeletal diseases. The selection of patients was carried out according to the following criteria: myofacial pain syndrome, seronegative oligoarthralgia, a slight inflammatory constellation and ethnic origin from the Mediterranean area. When these criteria were fulfilled a molecular genetic investigation was carried out This article presents evidence that 9 out of 12 Mediterranean patients with recurrent myofascial pain syndrome and mild inflammation revealed heterozygote mutations in the MEFV gene and 7 of these patients benefitted from treatment with colchicine. As colchicine treatment not only improved the myofascial pain but also prevented FMF-associated amyloidosis and nephropathy, differential diagnosis of fibromyalgia in patients of Mediterranean origin should include FMF and a genetic screening of the MEFV locus.

  11. XIAP Deficiency and MEFV Variants Resulting in Severe Manifestations – A Case Report

    DEFF Research Database (Denmark)

    Christiansen, Mette

    2016-01-01

    Genetic testing identified variants in the MEFV gene (c.1223G>A; p.R408Q) indicating Familial Mediterranean Fever. Importantly, a hemizygous mutation in the X-linked inhibitor of apoptosis (XIAP)-gene (c.1026delT; I342fs) resulting in a frameshift was identified by whole exome sequencing in the patient......Background Heterozygous dominant or homozygous recessive MEFV mutations result in recurrent fever and abdominal pain, while XIAP deficiency is characterized by a high susceptibility to develop haemophagocytic lymphohistiocytosis triggered by EBV infection, recurrent splenomegaly and inflammatory...

  12. Frequencies of the Common Mefv Gene Mutations in Adiyaman, Southeast Anatolia, Turkey

    Directory of Open Access Journals (Sweden)

    Korkmaz D. T.

    2014-12-01

    Full Text Available Familial Mediterranean fever (FMF is an autosomal recessive disorder characterized by fever and serosal inflammation. The reasons for the disorder are mutations in the Mediterranean fever (MEFV gene; the most common of which are M694V, M680I, M694I and V726A. In this study, we aimed to screen these common mutations of the MEFV gene and then determine the prevalence of FMF according to these mutations in Adıyaman, Southeast Anatolia, Turkey. Seven hundred and sixty-seven healthy individuals from the region of Adıyaman participated in the study. Polymerase chain reaction-amplification refractory mutation system (PCR-ARMS methods were used to determine the common mutations of the MEFV gene. Twenty-six (3.9% individuals had only one mutation in the MEFV gene, 25 individuals were heterozygous and one person was homozygous for the V726A mutation (0.15%. In the present study, the V726A mutation (50.0% was the most frequent, followed by M694V (38.5%, M680I (7.7% and M694I (3.8%. It was seen that the carrier rate was very low and the prevalence of FMF was 0.15%, according to the common mutations of the MEFV gene in Adıyaman, Southeast Anatolia, Turkey.

  13. MEFV Variants in Patients with PFAPA Syndrome in Japan.

    Science.gov (United States)

    Taniuchi, Shoichiro; Nishikomori, Ryuta; Iharada, Anna; Tuji, Shoji; Heike, Toshio; Kaneko, Kazunari

    2013-01-01

    The pathogenesis of PFAPA (periodic fever, aphthous stomatitis, pharyngitis, adenitis) syndrome is unknown as yet. In order to understand whether genes implicated in other auto-inflammatory diseases might be involved in the pathogenesis of PFAPA, all variants in the genes causing familial Mediterranean fever (FMF), tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS), and Hyper IgD syndrome were analyzed in children with PFAPA. All variants in MEFV, TNFRSF1A, and MVK were analyzed in 20 patients with PFAPA. PFAPA were diagnosed by previous published criteria. The findings of all analyses in PFAPA patients were compared with those of unaffected normal subjects (n=62). In the 13 children of 20 with PFAPA, the heterozygous variants of MEFV (5 patients: E148Q-L110P, 2 patients: E148Q, 1 patient: E148Q-L110P/E148Q, 1 patient: E148Q-P369S-R408Q-E84K, 1 patient: E148Q-L110P-P369S-A408G, 1 patient: R202Q, 1 patient: P115R) were found. No variants belonging to TNFRSF1A or MVK were detected in children with PFAPA. The frequency of the E148Q-L110P variants in children with PFAPA was significantly higher than that observed in unaffected normal subjects (7/20 versus 8/62). The duration of the episodes of illness in PFAPA children with MEFV variants was shorter than that of patients without variants. Genes involved in the development and progression of MEFV may affect the incidence and the phenotype of PFAPA in children.

  14. Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations

    Indian Academy of Sciences (India)

    MARYAM BEHESHTIAN; NASIM IZADI; GERNOT KRIEGSHAUSER; KIMIA KAHRIZI; ELHAM PARSI MEHR; MARYAM ROSTAM; MASOUMEH HOSSEINI; MARYAM AZAD; MONA MONTAJABINIAT; ARIANA KARIMINEJAD; STEFAN NEMETH; CHRISTIAN OBERKANINS; HOSSEIN NAJMABADI

    2016-09-01

    Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder caused by mutations in the MEFV gene. The disease is especially common among Armenian, Turkish, Jewish and Middle East Arab populations. To identify the frequency and the spectrum of common MEFV mutations in different Iranian populations, we investigated a cohort of 208 unselected asymptomatic individuals and 743 FMF patients. Nine hundred and fifty-one samples were analysed for the presence of 12 MEFV mutations by PCR and reverse-hybridization (FMF StripAssay, ViennaLab, Vienna, Austria). Confirmatory dideoxy sequencing of allMEFV gene exons was performed for 39 patients. Fifty-seven (27.4%) healthy individual carried mutant MEFV alleles. Three hundred and ninety-one (52.6%) FMF patients were found positive for either one (172/743; 23.1%), two or threeMEFV mutations. Using dideoxy sequencing, three novel variants, A66P, R202W and H300Q, could be identified. Our analysis revealed an allele frequency and carrier rate of 15.6 and 27.4%, respectively, among healthy Iranians. Stillmoderate compared to neighbouring Armenia, but higher than in Turkey or Iraq, these data suggest that FMF is remarkably common among Iranian populations. E148Q was most frequent in the group of healthy individuals, whereas M694V wasthe most common mutation among FMF patients, thereby corroborating previous studies on MEFV mutational spectra in the Middle East. Accordingly,MEFV mutations are frequent in healthy Iranian individuals across different ethnic groups. Based on this finding, the awareness for FMF and the implementation of augmented carrier screening programmes considering the multiethnic nature of the Iranian population should be promoted.

  15. The Potential Negative Effects of Interleukin 1 B in Multiple Sclerosis Patients with MEFV Mutation

    Directory of Open Access Journals (Sweden)

    Mahmut Alpayci

    2013-10-01

    Full Text Available Multiple sclerosis patients, who are carriers of MEditerranean FeVer (MEFV gene mutation, have faster progression than the non-carriers. However, its underlying mechanism is not well understood. This article proposes the potential role of interleukin-1β (IL-1β that may be responsible for this rapid progression. Mutations in MEFV, the gene encoding for protein pyrin, cause familial Mediterranean fever, lead to gain of pyrin function, resulting in inappropriate IL-1β release. Interleukin-1β is a major mediator of systemic inflammation and fever, and also it contributes to permeability of the blood-brain barrier in active lesions of multiple sclerosis. Moreover, IL-1β promotes apoptosis of neurons and oligodendrocytes that produce the myelin sheath, which insulates axons. Thus, inflammatory damage, the blood-brain barrier disfunction, effects of fever on the central nervous system (or Uhthoff’s phenomenon, and apoptosis of neurons and oligodendrocytes, which play an important role in the pathogenesis and clinical course of multiple sclerosis, can be induced by increased activation and release of IL-1β in the presence of MEFV gene mutations. Therefore, screening for MEFV mutations in patients with multiple sclerosis and treatment planning with IL-1β targeting drugs for the carriers, may be a logical idea that will be a source of inspiration for scientific studies.

  16. Association of FMF-related (MEFV) point mutations with secondary and FMF amyloidosis.

    Science.gov (United States)

    Atagunduz, M Pamir; Tuglular, Serhan; Kantarci, Gulcin; Akoglu, Emel; Direskeneli, Haner

    2004-01-01

    Familial Mediterranean fever (FMF) is the major cause of AA amyloidosis in Turkey. M694V mutation in MEFV gene was suggested to be associated with severe clinical features and amyloidosis of FMF. In this study, the frequencies of three FMF-related MEFV mutations (M694V, M680I and V726A) were investigated in FMF patients with (AA-FMF, n = 37) and without amyloidosis (non-AA-FMF, n = 35), in patients with secondary amyloidosis related to non-FMF inflammatory conditions (S-AA, n = 19) and in a non-inflammatory control group (n = 185) by molecular genetic studies using polymerase chain reaction with the ARMS (amplification refractory mutation system) method. Both AA and non-AA-FMF patients had significantly higher MEFV mutations compared to non-inflammatory controls (81 and 62.7% respectively vs. 4.2%, p = 0.0001). AA-FMF patients carried significantly more MEFV mutations than non-AA-FMF patients (p = 0.01). M694V was the most common mutation in both FMF groups (63.5 vs. 51.4%), however allele frequency (p = 0.17) and the number of homozygous patients for this mutation did not differ between the groups (p = 0.77). Although lower compared to FMF patients, S-AA patients also had a significantly higher incidence of MEFV mutations than non-inflammatory controls (21 vs. 4.2%) (p = 0.0002). M694V was the only MEFV mutation in this group. MEFV mutations are found to be increased both in FMF and non-FMF associated secondary amyloidosis in our study; however, no clear association between M694V and amyloidosis is observed, except in the non-FMF group. Our results suggest that MEVF mutations may also serve as a severity marker for other inflammatory conditions. Copyright 2004 S. Karger AG, Basel

  17. Overlap syndrome between FMF and TRAPS in a patient carrying MEFV and TNFRSF1A mutations.

    Science.gov (United States)

    Granel, B; Serratrice, J; Dodé, C; Grateau, G; Disdier, P; Weiller, P-J

    2007-01-01

    Familial Mediterranean Fever (FMF) and TNF-Receptor Associated Periodic Syndrome (TRAPS) are two inheritable inflammatory disorders. They share some clinical manifestations but their treatments are different. We present here the case of an overlap syndrome of FMF and TRAPS in a patient carrying a mutation in both the MEFV and TNFRSF1A genes. A 20-year-old woman of Mediterranean origin had suffered since childhood from attacks of fever and arthritis, with skin and ophthalmic manifestations. The initial diagnosis was FMF. The symptoms responded poorly to colchicine but regressed with steroids. Genetic analysis revealed a homozygous M694V mutation in MEFV and a heterozygous R92Q mutation in TNFRSF1A. We discuss the complexity of this combined FMF-TRAPS phenotype. This case shows that mutations in MEFV and TNFRSF1A can occur together in a single patient, a condition that may modify its response to treatment. It would be interesting to evaluate the role of the R92Q mutation in TNFRSF1A in patients of Mediterranean origin with FMF unresponsive to colchicine.

  18. Surgery for acute abdomen and MEFV mutations in patients with FMF.

    Science.gov (United States)

    Samli, Hale; Içduygu, Fadime Mutlu; Ozgöz, Asuman; Akbulut, Gökhan; Hekimler, Kuyas; Imirzalioglu, Necat

    2009-01-01

    Familial Mediterranean Fever (FMF) is an autosomal recessive disease characterized by recurrent fever, peritonitis, arthritis, pleuritis, and secondary amyloidosis. In the current study, we sought to determine the frequency of acute surgical abdominal intervention and MEFV gene mutations in FMF patients. A total of 159 patients were referred to our department with a diagnosis of FMF. Twenty-six patients (16.4%) had a history of surgical intervention. Of these, 17 (10.7%) were operated on due to appendicitis, and 9 (5.7%) were operated on due to other acute abdomen reasons. Genomic DNA was isolated from the blood samples, and in the isolated DNA samples, 12 MEFV gene mutations were studied. Mutation frequency was detected to be 80.8% in the patients with acute abdomen surgery intervention and 56.4% in the patients without acute abdomen surgical intervention. Upon mutational evaluation of these patients, we noted that the M694V (40.5%) and E148Q (21.4%) mutations occurred most frequently. The MEFV gene mutation frequency in FMF patients with acute abdomen surgical intervention was significantly higher than that in patients without such intervention. Increased mutation scanning in FMF patients will significantly decrease unnecessary surgical interventions in this patient group.

  19. Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events

    Science.gov (United States)

    2017-01-01

    Objective and Importance. Cyclic neutropenia (CyN) is a rare autosomal dominant inherited disorder due to the mutation ELANE primarily affecting bone marrow stem cells and is characterized by recurrent neutropenia every 2 to 4 weeks. Symptoms vary from benign to severe, including death. Postulations on the cause of wide spectrum in symptom presentation include the possibility of other genetic mutations, such as MEFV. Recommended treatment for CyN is G-CSF to keep ANC higher to minimize risk of infection. Case. A 25-year-old male diagnosed with CyN, on G-CSF but worsening quality of life. Pretransplant investigations revealed ELANE mutation positive severe CyN along with familial Mediterranean fever (MEFV) mutation. Intervention. Bone marrow transplantation as treatment for dual mutation (ELANE and MEFV mutation) positive severe CyN. Conclusion. BMT may be considered as an alternative treatment for severe CyN in patients who are refractory to G-CSF. It is postulated that in our patient the combined mutations (CyN and MEFV) may have contributed to the severity of this individual's symptoms. We suggest CyN patients who present with severe symptoms have evaluation with ELANE mutation testing, Periodic Fever Syndromes Panel, and routine marrow assessment with FISH, conventional cytogenetics, and morphological evaluation for MDS/AML.

  20. Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events

    Directory of Open Access Journals (Sweden)

    Onyemaechi N. Okolo

    2017-01-01

    Full Text Available Objective and Importance. Cyclic neutropenia (CyN is a rare autosomal dominant inherited disorder due to the mutation ELANE primarily affecting bone marrow stem cells and is characterized by recurrent neutropenia every 2 to 4 weeks. Symptoms vary from benign to severe, including death. Postulations on the cause of wide spectrum in symptom presentation include the possibility of other genetic mutations, such as MEFV. Recommended treatment for CyN is G-CSF to keep ANC higher to minimize risk of infection. Case. A 25-year-old male diagnosed with CyN, on G-CSF but worsening quality of life. Pretransplant investigations revealed ELANE mutation positive severe CyN along with familial Mediterranean fever (MEFV mutation. Intervention. Bone marrow transplantation as treatment for dual mutation (ELANE and MEFV mutation positive severe CyN. Conclusion. BMT may be considered as an alternative treatment for severe CyN in patients who are refractory to G-CSF. It is postulated that in our patient the combined mutations (CyN and MEFV may have contributed to the severity of this individual’s symptoms. We suggest CyN patients who present with severe symptoms have evaluation with ELANE mutation testing, Periodic Fever Syndromes Panel, and routine marrow assessment with FISH, conventional cytogenetics, and morphological evaluation for MDS/AML.

  1. Patient with FMF and Triple MEFV Gene Mutations.

    Science.gov (United States)

    Salehzadeh, Farhad; Fathi, Afshin

    2015-08-01

    Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease with monogenic (MEditerranean FeVer -MEFV- gene) inherited pattern. It mainly affects ethnic groups living along the eastern Mediterranean Sea: Turks, Sephardic Jews, Armenians, and Arabs [1]. Today FMF is not rare disease in other Mediterranean ethnicities, such as Greeks, Italians, and Iranians. Here we report a child with complex allele mutations E148Q/V726A/R761H, whilst, whose mother showed E148Q/V726A and his father had R761H/wt in analysis. The severity of the disease and genotype-phenotype correlation of patient showed no significant differences with his mother and other patients with the same two mutations, V726A/R761H, E148Q/V726A, and E148Q/R761H. This type of mutation is the first report of triple mutations in FMF patients with no specific phenotype correlation.

  2. Prevalence and significance of the MEFV gene mutations in childhood Henoch-Schönlein purpura without FMF symptoms.

    Science.gov (United States)

    Dogan, Cagla Serpil; Akman, Sema; Koyun, Mustafa; Bilgen, Turker; Comak, Elif; Gokceoglu, Arife Uslu

    2013-02-01

    Familial Mediterranean fever (FMF) has been reported more frequently in patients presenting with Henoch-Schönlein purpura (HSP) than in the general population. But, there is no clear knowledge about MEFV mutations in patients with HSP. We investigated the prevalence of MEFV mutations in children with HSP and without FMF whether these mutations have any effect on the disease course or complications. A total of 76 children with HSP who had no typical symptoms of FMF were screened for the mutations in exon 2 and exon 10 of the MEFV gene. Eleven of 76 patients (14.4 %) were heterozygous (E148Q in 5, M694V in 4, M680I in 1, E148V in 1), 5 (6.6 %) were homozygous (M694V/M694V in 4, V726A/V726A in 1), and 2 (2.6 %) were compound heterozygous (E148Q/M694V mutations in 1 and L110P/E148Q mutations in 1). Altogether, 7 patients carried 2 mutated MEFV alleles (9.2 %), which was higher than that observed in the general Turkish population (1 %). No significant differences in joint, gastrointestinal, renal involvement, or subcutaneous edema, and also acute phase reactants including leukocyte count, erythrocyte sedimentation rate, and serum C-reactive protein concentration were found between the groups. The prevalence of the two allele-MEFV mutations in patients with HSP was found higher than that of the general population. However, it seems that MEFV gene mutations may not have any effect on the clinical presentation of HSP.

  3. Association between MEFV Mutations M694V and M680I and Behcet's Disease: A Meta-Analysis.

    Directory of Open Access Journals (Sweden)

    Ziyan Wu

    Full Text Available Several studies have identified an association between Behçet's disease (BD and mutations in the Mediterranean fever (MEFV gene, which was originally linked to the autosomal recessive disease, Familial Mediterranean fever. However, no consensus has been reached. Here, a meta-analysis was conducted on published data to comprehensively evaluate this relationship.Literature searches were performed in Pubmed, Embase, the Web of Science, and HuGE Navigator databases, in order to identify studies pertaining to the association between MEFV mutations and BD. Two investigators independently extracted and evaluated the data from eligible studies. The association between MEFV mutations (M694V, M680I, and E148Q and BD was estimated overall by the odds ratio (OR and 95% confidence intervals (95% CI. Further analysis was conducted with STATA 12.0 software (Stata Corp.; College Station, TX.Eligible studies (n=8 included genotyping data obtained from 2538 BD patients and 2792 healthy controls. Of the three mutations, M694V (pooled OR: 2.60, 95% CI: 2.02-3.34 and M680I (pooled OR: 1.74, 95% CI: 1.23-2.46 were found to be associated with BD in the overall analysis. The third mutation, E148Q, however, was not found to be linked with BD (pooled OR: 1.26, 95% CI: 0.69-2.31. Subgroup analysis furthermore revealed that M694V and M680I were risk loci for BD specifically in Turkish patients.The meta-analysis confirmed that MEFV mutations M694V and M680I were associated with BD. Additional studies from other ethnic populations and functional experiments are necessary to determine the extent to which the MEFV gene underlies the development of BD.

  4. Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.

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    Jinong Feng

    Full Text Available BACKGROUND: Fibromyalgia syndrome (FMS, a common, chronic, widespread musculoskeletal pain disorder found in 2% of the general population and with a preponderance of 85% in females, has both genetic and environmental contributions. Patients and their parents have high plasma levels of the chemokines MCP-1 and eotaxin, providing evidence for both a genetic and an immunological/inflammatory origin for the syndrome (Zhang et al., 2008, Exp. Biol. Med. 233: 1171-1180. METHODS AND FINDINGS: In a search for a candidate gene affecting inflammatory pathways, among five screened in our patient samples (100 probands with FMS and their parents, we found 10 rare and one common alleles for MEFV, a gene in which various compound heterozygous mutations lead to Familial Mediterranean Fever (FMF. A total of 2.63 megabases of genomic sequence of the MEFV gene were scanned by direct sequencing. The collection of rare missense mutations (all heterozygotes and tested in the aggregate had a significant elevated frequency of transmission to affecteds (p = 0.0085, one-sided, exact binomial test. Our data provide evidence that rare missense variants of the MEFV gene are, collectively, associated with risk of FMS and are present in a subset of 15% of FMS patients. This subset had, on average, high levels of plasma IL-1beta (p = 0.019 compared to FMS patients without rare variants, unaffected family members with or without rare variants, and unrelated controls of unknown genotype. IL-1beta is a cytokine associated with the function of the MEFV gene and thought to be responsible for its symptoms of fever and muscle aches. CONCLUSIONS: Since misregulation of IL-1beta expression has been predicted for patients with mutations in the MEFV gene, we conclude that patients heterozygous for rare missense variants of this gene may be predisposed to FMS, possibly triggered by environmental factors.

  5. Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance.

    Science.gov (United States)

    Shinar, Y; Kuchuk, I; Menasherow, S; Kolet, M; Lidar, M; Langevitz, P; Livneh, A

    2007-11-01

    To determine the spectrum of mutations in the Mediterranean fever gene (MEFV) of Iranian Jews with familial Mediterranean fever (FMF) and to analyse their clinical manifestations. FMF patients with both parents of Iranian-Jewish (IJ) extraction or with one IJ parent (IJ-other, 10 of each) were characterized for clinical manifestations, and the B30.2 (PRYSPRY) domain of their MEFV was sequenced for mutations. Only one rare mutation, R653H, and one new mutation, G632S were present in the IJ group (in 2/10 patients), whereas the new, and common mutations were present in the IJ-other patients (8/10 patients). The new mutation was traced thrice to an IJ ancestor, and although carried asymptomatically by family members, it was over-represented in the patients (3/28 unrelated IJ alleles) compared non-affected IJ subjects (1/126 alleles, P = 0.03) or with non-Jewish Iranians (0/108 alleles, P = 0.001). The mutation was associated with a distinct phenotype regarding sites involved in the attack (P = 0.001), mild severity, sole expression of febrile episodes (P = 0.01) and a male bias (P = 0.01). In two 3D PRYSPRY models the G632S mutation was localized to a surface loop and close to a putative binding site. Iranian Jews with FMF have a unique spectrum of mutations including a newly described mutation with a non-typical phenotype.

  6. Unusual presentation of familial Mediterranean fever: role of genetic diagnosis

    OpenAIRE

    Nir-Paz, R; Ben-Chetrit, E; Pikarsky, E; Hassin, D.; Hasin, Y; Chajek-Shaul, T.

    2000-01-01

    OBJECTIVE—To describe the role of molecular analysis in the diagnosis of an unusual presentation of familial Mediterranean fever (FMF).
CASE REPORT—Two patients presenting with prolonged fever without signs and symptoms of serositis are described. FMF was diagnosed by genetic analysis, which disclosed that both patients were homozygous for the M694V mutation of the Mediterranean fever (MEFV) gene.
CONCLUSION—Molecular analysis of FMF should complement the investigation of patients with fever ...

  7. Familial Mediterranean fever presenting as fever of unknown origin in Korea

    OpenAIRE

    Lee, Jun Hee; Kim, Jong Hyun; Shim, Jung Ok; Lee, Kwang Chul; Lee, Joo Won; Lee, Jung Hwa; Chae, Jae Jin

    2016-01-01

    Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene, MEFV which encodes the pyrin protein. Although FMF predominantly affects people from Mediterranean and Middle Eastern ethnic origins, 3 cases of FMF have...

  8. [A case of colchicine-responsive Mollaret's meningitis with MEFV gene mutation].

    Science.gov (United States)

    Kinohshita, Tomomi; Matsushima, Akira; Satoh, Shunichi; Hoshi, Kenichi; Kishida, Dai; Yahikozawa, Hiroyuki

    2014-01-01

    A 66-year-old woman was admitted to our hospital with recurrent meningitis. She presented with 10 episodes of meningitis in 10 months. Examination of cerebrospinal fluid demonstrated pleocytosis, with neutrophils dominant at the early stage, and lymphocytes dominant at the late stage. Mollaret cells were found and the level of IL-6 was increased in cerebrospinal fluid. Several antibiotics and antiviral agents failed to prevent relapse. However, colchicine therapy successfully prevented the recurrence of meningitis. Genetic testing for familial Mediterranean fever (FMF) showed a mutation in the MEFV gene. It is difficult to diagnose the cause of Mollaret's meningitis in some patients. FMF, neuro-Behçet's disease, and neuro-Sweet disease should be included in the differential diagnosis of recurrent meningitis. In addition, colchicine therapy can prevent the relapse of meningitis in such cases.

  9. Goats, germs, and fever: Are the pyrin mutations responsible for familial Mediterranean fever protective against Brucellosis?

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    Ross, John J

    2007-01-01

    Mutations in the MEFV gene are highly prevalent in the Middle East and Mediterranean basin, with carrier rates of up to 1:3 in some populations. More than 50 mutations in the MEFV gene have been described. The high prevalence, multiple mutations, and geographic localization to the Middle East suggest a positive selection advantage for the abnormal gene operating in this area over the last several thousand years. To date, no satisfactory explanation of this phenomenon has been made. Rather, many harmful effects of these mutations have been described. MEFV gene mutations cause familial Mediterranean fever in homozygotes, a disease associated with recurrent febrile inflammatory episodes, and death from renal failure and amyloidosis. Heterozygotes with MEFV mutations are predisposed to premature coronary disease, and rheumatologic conditions such as Behçet's disease. MEFV mutations do not appear to protect against tuberculosis. Brucellosis is still highly endemic in the Middle East because of the traditional reliance for meat and dairy production on goats and sheep, the major vectors for this zoonosis. Brucellosis causes a prolonged febrile illness lasting for months and even years, and it may have exacted a major toll among Bronze Age peasant populations in the Middle East. The gene product for MEFV, pyrin, normally inhibits interleukin-1beta production. Mutations in MEFV result in a pro-inflammatory state, with a Th1 polarization and high levels of interferon-gamma. This may actually be protective against intracellular pathogens such as brucellosis. The possible heterozygote advantage of MEFV mutations against brucellosis may therefore be a balanced polymorphism, analogous to the protective effect against malaria that maintains high levels of sickle cell trait in sub-Saharan Africa.

  10. Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF).

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    Goulielmos, G N; Fragouli, E; Aksentijevich, I; Sidiropoulos, P; Boumpas, D T; Eliopoulos, E

    2006-07-14

    Familial Mediterranean fever (FMF) is an autosomal, recessively inherited disease, characterized by recurrent fever and serositis that affects mainly patients of the Mediterranean basin. The gene responsible for FMF, named MEFV, was cloned and several missense mutations were found to be responsible for the disease. Based on a recent molecular analysis of MEFV gene mutations in 43 patients from Crete aiming to correlate specific genotypes and clinical manifestations of FMF, we were prompted to construct a three-dimensional model (3-D model) of the PRYSPRY domain of pyrin. The majority of the known MEFV mutations located on this domain have been classified, according to disease severity, and localized on this 3-D model. The functional consequences of these mutations and their implications on disease severity are discussed. Moreover, we report a putative novel missense mutation, S702C, which we identified in exon 10 of the MEFV gene and localized on the constructed 3-D model.

  11. Familial Mediterranean fever presenting as fever of unknown origin in Korea.

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    Lee, Jun Hee; Kim, Jong Hyun; Shim, Jung Ok; Lee, Kwang Chul; Lee, Joo Won; Lee, Jung Hwa; Chae, Jae Jin

    2016-11-01

    Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene, MEFV which encodes the pyrin protein. Although FMF predominantly affects people from Mediterranean and Middle Eastern ethnic origins, 3 cases of FMF have been reported in Korea since 2012. We report another case of FMF in Korea in which the patient presented with a month-long fever without serositis. After treatment with colchicine was initiated, the patient's symptoms quickly subsided. The response to colchicine was helpful for diagnosis. We compare the FMF genotypes in Korea with in other countries. Studying FMF cases in Korea will help establish the best MEFV exons to use for screening and diagnosis of Korean FMF.

  12. Sacroiliitis and Polyarteritis Nodosa in a Patient with Familial Mediterranean Fever

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    Yunus Ugan

    2016-01-01

    Full Text Available Familial Mediterranean fever (FMF is an autoinflammatory disorder with autosomal recessive inheritance, characterized by recurrent fever and episodes of serositis. The condition is known to be caused by mutations in the MEFV (Mediterranean FeVer gene, located in the short arm of chromosome 16. While more than 310 sequence variants in the MEFV gene have been described to date, the diagnosis is still established clinically. FMF may be accompanied by sacroiliitis and various forms of vasculitis. The most common forms of associated vasculitis are Henoch-Schonlein purpura and polyarteritis nodosa (PAN. We have presented here a fairly rare case of FMF, accompanied by both sacroiliitis and PAN.

  13. Could familial Mediterranean fever gene mutations be related to PFAPA syndrome?

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    Celiksoy, Mehmet H; Ogur, Gonul; Yaman, Elif; Abur, Ummet; Fazla, Semanur; Sancak, Recep; Yildiran, Alisan

    2016-02-01

    The cause and pathophysiology of PFAPA syndrome is unknown. The aim of this study was to determine all MEFV gene variants relevant to familial Mediterranean fever in children with PFAPA syndrome. All MEFV gene variants were analyzed in patients with PFAPA syndrome. All patients were evaluated using the Gaslini scoring system. Serum immunoglobulin levels were also determined upon admission. We evaluated 64 patients with PFAPA syndrome. The median age at diagnosis was 37.5 (min-max: 6-96) months, and the percentage of male patients was 55.0%. The Gaslini diagnostic score for periodic fever was high in 81.0% of the patients. An MEFV gene mutation was found in 42 (66.0%) children. Mostly, heterozygous or compound heterozygous variants of the MEFV gene were found. Two patients were homozygous for R202Q. MEFV gene mutations were not detected in 22 (34.0%) patients. No significant differences in clinical or laboratory findings were observed between the two groups (p > 0.05), and there were no significant differences in period and duration of the fever episodes (p > 0.05). The fever of all 47 patients (100.0%) who received prednisolone during the episodes decreased within hours and did not recur. Eighteen of the patients using prednisolone underwent prophylaxis with colchicine, and the fever episodes of 9/18 (50.0%) patients using colchicine decreased within months. Most patients presenting with PFAPA syndrome have heterozygous MEFV gene mutations. Whether carrying a heterozygous MEFV gene is the primary cause of this syndrome requires further investigation. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  14. Familial Mediterranean fever, Inflammation and Nephrotic Syndrome: Fibrillary Glomerulopathy and the M680I Missense Mutation

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    Semerdjian Ronald J

    2003-08-01

    Full Text Available Abstract Background Familial Mediterranean fever (FMF is an autosomal recessive disease characterized by inflammatory serositis (fever, peritonitis, synovitis and pleuritis. The gene locus responsible for FMF was identified in 1992 and localized to the short arm of chromosome 16. In 1997, a specific FMF gene locus, MEFV, was discovered to encode for a protein, pyrin that mediates inflammation. To date, more than forty missense mutations are known to exist. The diversity of mutations identified has provided insight into the variability of clinical presentation and disease progression. Case Report We report an individual heterozygous for the M680I gene mutation with a clinical diagnosis of FMF using the Tel-Hashomer criteria. Subsequently, the patient developed nephrotic syndrome with biopsy-confirmed fibrillary glomerulonephritis (FGN. Further diagnostic studies were unremarkable with clinical workup negative for amyloidosis or other secondary causes of nephrotic syndrome. Discussion Individuals with FMF are at greater risk for developing nephrotic syndrome. The most serious etiology is amyloidosis (AA variant with renal involvement, ultimately progressing to end-stage renal disease. Other known renal diseases in the FMF population include IgA nephropathy, IgM nephropathy, Henoch-Schönlein purpura as well as polyarteritis nodosa. Conclusion To our knowledge, this is the first association between FMF and the M680I mutation later complicated by nephrotic syndrome and fibrillary glomerulonephritis.

  15. Accelerated apoptosis of neutrophils in familial Mediterranean fever

    DEFF Research Database (Denmark)

    Manukyan, Gayane; Aminov, Rustam; Hakobyan, Gagik

    2015-01-01

    The causative mutations for familial Mediterranean fever (FMF) are located in the MEFV gene, which encodes pyrin. Pyrin modulates the susceptibility to apoptosis via its PYD domain, but how the mutated versions of pyrin affect apoptotic processes are poorly understood. Spontaneous and induced rates...

  16. Familial Mediterranean fever with P369S/R408Q exon3 variant in pyrin presenting as symptoms of PFAPA.

    Science.gov (United States)

    Yamagami, Keiko; Nakamura, Tomoyuki; Nakamura, Ryota; Hanioka, Yusuke; Seki, Kaori; Chiba, Hiroshi; Kobayashi, Keiko; Agematsu, Kazunaga

    2017-03-01

    Familial Mediterranean fever (FMF) can be classified into typical and incomplete/atypical types. Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome-like symptoms have been found in atypical type carrying P369S-R408Q mutations in the responsible gene MEFV. A 28-year-old female with recurrent fever and her young sisters and mother, all of whom had tonsillectomy for tonsillitis, carried heterozygous alterations involving E148Q/P369S/R408Q. A diagnosis of atypical FMF, MEFV exon3 variants with PFAPA syndrome-like symptoms, was made.

  17. Prevalence and significance of MEFV gene mutations in patients with gouty arthritis.

    Science.gov (United States)

    Karaarslan, Ahmet; Kobak, Senol; Kaya, Işın; Intepe, Nazım; Orman, Mehmet; Berdelı, Afig

    2016-11-01

    Gouty arthritis is a chronic erosive autoinflammatory disease. Pyrin has anti-inflammatory effects in the regulation of inflammasome and is encoded by the MEFV gene. The relationship between different rheumatic diseases and the MEFV gene mutations was demonstrated. The aim of this study was to determine the frequency of MEFV gene mutations in patients with gouty arthritis and identify a possible correlation with disease phenotype. Ninety-three patients with gouty arthritis and 102 healthy controls, compatible with age, gender and ethnicity, were included in the study. MEFV gene mutations were investigated by PCR method. Out of 93 patients with gouty arthritis, 36 (38.7 %) showed MEFV gene mutations carriage, whereas 20.6 % in healthy control group. Distribution of mutations identified in patients with gouty arthritis was as; R202Q in 18 (19.3 %), E148Q in 5 (5.4 %), K695R in 4 (4.3 %), M680I in 2 (2.1 %), V726A in 2 (2.1 %), P369S in 2 (2.1 %), R408Q in 2 (2.1 %), M694 V in 1 (1.1 %), respectively. Three patients were identified with compound heterozygosity. Distribution of MEFV gene mutations carriage in healthy controls was; E148Q in 11 (10.7 %), M694 V in 2 (1.9 %), M694I in 1 (0.9 %), M680I in 2 (1.9 %), V726A in 1 (0.9 %), A744S in 1 (0.9 %), K695R in 2 (1.9 %), and P369S in 1 (0.9 %) patients, respectively. Higher MEFV gene mutations carrier frequency was observed in patients with gouty arthritis, compared with the control group (p = 0.009). Heterozygous R202Q was the most common mutation detected in patients with gouty arthritis, while heterozygous E148Q in healthy control group. Statistically significant difference was not detected between clinical findings of gouty arthritis and the MEFV gene mutations (p > 0.05). We determined higher prevalence of MEFV gene mutations in patients with gouty arthritis compared with the healthy control group. The most frequently detected mutation was heterozygous R202Q, whereas E148Q in healthy

  18. Familial Mediterranean fever: the first adult case in Korea.

    Science.gov (United States)

    Lim, Ah Leum; Jang, Hyun Joo; Han, Jung Wan; Song, Yong Keun; Song, Won Jun; Woo, Heung Jung; Jung, Young Ok; Kae, Sea Hyub; Lee, Jin

    2012-11-01

    Familial Mediterranean fever (FMF) is known to be a genetic disorder that prevalent among populations surrounding the Mediterranean Sea. Since Mediterranean fever gene (MEFV) was discovered at 1997, some cases have been reported in countries not related or close to this area like Japan. In addition it has been generally accepted that the clinical onset of FMF begins before 20 yr of age in most patients. Onset of the disease at an older age may occur but is rare. Adult-onset FMF may be a form of disease with distinct clinical, demographic and molecular characteristics. We describe a case of adult-onset FMF confirmed by DNA analysis of the MEFV gene in a Korean patient. A 32-yr-old man, who has no family history of FMF, presented with periodic fever, abdominal pain and vomiting. Though several various tests were thoroughly performed to evaluate the cause of his symptoms, there was no evidence of infectious, autoimmune or neoplastic diseases. Several gene analysis of periodic fever syndrome was finally performed and two point mutations (p.Leu110Pro, p.Glu148Gln) were identified. We confirmed the first adult case of FMF through detection of MEFV gene mutations in Korea and describe his clinical characteristics.

  19. The gene for familial Mediterranean fever in both Armenians and non-Ashkenzai Jews is linked to the [alpha]-globin complex on 16p: Evidence for locus homogeneity

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    Shohat, M.; Shohat, T.; Magal, N.; Danon, Y. (Tel Aviv Univ. (Israel)); Xiangdong Bu; Fischel-Ghodsian, N.; Schwabe, A.D.; Rotter, J.I. (Univ. of California, Los Angeles (United States)); Nakamura, Yusuke (Cancer Inst., Tokyo (Japan)); Schlezinger, M. (Barzilai Medical Center, Ashkelon (Israel))

    1992-12-01

    Familial Mediterranean fever (FMF) is a recurrent inflammatory disorder characterized by short episodes of fever, peritonitis, pleuritis, and arthritis. While FMF has been shown to be inherited in an autosomal recessive fashion in both non-Ashkenazi Jews and Armenian families, clinical differences have raised the possibility of genetic heterogeneity. As its pathogenesis is unknown, mapping of the gene for FMF may provide the first objective method for early and accurate diagnosis of this disease. After excluding 45% of the entire human genome, the authors studied 14 Armenian and 9 non-Ashkenazi Jewish families with FMF and tested linkage with the [alpha]-globin locus on chromosome 16. Analysis of the PvuII length polymorphism of the 3[prime] HVR (hypervariable region) probe showed significant linkage with the FMF gene (maximum lod score [lod[sub max

  20. Association Between Keratoconus and Familial Mediterranean Fever in Turkey.

    Science.gov (United States)

    Kosker, Mustafa; Arslan, Nese; Alp, Muhammed Yunus; Ozisler, Cem; Acar, Mutlu; Dogan, Aysun Sanal; Yesilyurt, Ahmet; Gurdal, Canan

    2016-01-01

    To evaluate the association between familial Mediterranean fever (FMF) and keratoconus (KC). This retrospective case-control study was performed to compare the prevalence of KC in patients with FMF with the corresponding prevalence in control patients without FMF referred to Genetic Diagnostic Center at Diskapi Yildirim Beyazit Training and Research Hospital from June 2012 to June 2015. We included all 100 patients with FMF. Each FMF-affected patient was matched to 3 controls. None of the patients in the control group (0%, 0/300) had KC, whereas 4 of 100 patients with FMF (4%) had KC (P Mediterranean fever (MEFV) gene mutations, particularly in homozygous mutations of the MEFV gene, may be a predisposing factor in the development of KC.

  1. Familial Mediterranean fever: current perspectives

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    Sönmez, Hafize Emine; Batu, Ezgi Deniz; Özen, Seza

    2016-01-01

    Familial Mediterranean fever (FMF) is the most frequent monogenic autoinflammatory disease, and it is characterized by recurrent attacks of fever and polyserositis. The disease is associated with mutations in the MEFV gene encoding pyrin, which causes exaggerated inflammatory response through uncontrolled production of interleukin 1. The major long-term complication of FMF is amyloidosis. Colchicine remains the principle therapy, and the aim of treatment is to prevent acute attacks and the consequences of chronic inflammation. With the evolution in the concepts about the etiopathogenesis and genetics of the disease, we have understood that FMF is more complicated than an ordinary autosomal recessive monogenic disorder. Recently, recommendation sets have been generated for interpretation of genetic testing and genetic diagnosis of FMF. Here, we have reviewed the current perspectives in FMF in light of recent recommendations. PMID:27051312

  2. Results from a multicentre international registry of familial Mediterranean fever

    DEFF Research Database (Denmark)

    Ozen, Seza; Demirkaya, Erkan; Amaryan, Gayane

    2014-01-01

    BACKGROUND AND AIM: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations of the MEFV gene. We analyse the impact of ethnic, environmental and genetic factors on the severity of disease presentation in a large international registry. METHODS: Demographic, genetic...... Mediterranean patients whether they lived in their countries or western European countries. European patients had a lower frequency of the high penetrance M694V mutation and a significant delay of diagnosis (pfever episodes...

  3. Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment.

    Science.gov (United States)

    Petrushkin, Harry; Stanford, Miles; Fortune, Farida; Jawad, Ali S

    2016-08-01

    Familial Mediterranean fever is an autoinflammatory multisystem disease, which most commonly affects patients from the Mediterranean basin. This review discusses the common polymorphisms in the MEFV gene as well as the role of pyrin in disease pathogenesis. Patients with familial Mediterranean fever typically develop peritonitis, pleuritis, arthritis, and fever. In addition, a number of authors have reported ophthalmic features. These case reports and series are further explored in this review. Colchicine has transformed the prognosis for patients with familial Mediterranean fever. The rationale for the use of colchicine, as well as the evidence for newer biologic agents is also covered.

  4. Expression of the familial Mediterranean fever gene and activity of the C5a inhibitor in human primary fibroblast cultures.

    Science.gov (United States)

    Matzner, Y; Abedat, S; Shapiro, E; Eisenberg, S; Bar-Gil-Shitrit, A; Stepensky, P; Calco, S; Azar, Y; Urieli-Shoval, S

    2000-07-15

    Familial Mediterranean fever (FMF) is an inherited disease whose manifestations are acute but reversible attacks of sterile inflammation affecting synovial and serosal spaces. The FMF gene (MEFV) was recently cloned, and it codes for a protein (pyrin/marenostrin) homologous to known nuclear factors. We previously reported the deficient activity of a C5a/interleukin (IL)-8 inhibitor, a physiologic regulator of inflammatory processes, in FMF serosal and synovial fluids. We now describe the concomitant expression of MEFV and C5a/IL-8-inhibitor activity in primary cultures of human fibroblasts. Fibroblasts grown from synovial and peritoneal tissues displayed C5a/IL-8-inhibitor activity that could be further induced with phorbol myristate acetate (PMA) and IL-1 beta. Very low levels of chemotactic inhibitor were evident in skin fibroblast cultures or in peritoneal and skin fibroblasts obtained from FMF patients. MEFV was expressed in peritoneal and skin fibroblasts at a lower level than in neutrophils and could be further induced by PMA and IL-1 beta. In the FMF cultures, the MEFV transcript carried the M694V mutation, consistent with the genetic defect found in patients with this disease. MEFV was also expressed in other cell lines that do not produce C5a/IL-8 inhibitor. These findings suggest that human primary fibroblast cultures express MEFV and produce C5a/IL-8-inhibitor activity. The interrelationship between pyrin, the MEFV product, and the C5a/IL-8 inhibitor requires further investigation. (Blood. 2000;96:727-731)

  5. Idiopathic Uveitis and Familial Mediterranean Fever: Is There Any Relationship?

    Directory of Open Access Journals (Sweden)

    Farhad Salehzadeh

    2014-01-01

    Full Text Available 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.

  6. A retrospective analysis of 7 cases of familial mediterranean fever.

    Science.gov (United States)

    Ogita, Chie; Matsui, Kiyoshi; Kisida, Dai; Yazaki, Masahide; Nakamura, Akinori; Kaku, Satosi; Makino, Hidehiko; Tadokoro, Rei; Azuma, Kouta; Tsuboi, Kazuyuki; Tani, Mei; Tamura, Masao; Yoshikawa, Takahiro; Morimoto, Mai; Nishioka, Aki; Sekiguchi, Masahiro; Azuma, Naoto; Kitano, Masayasu; Tsunoda, Shinichiro; Sawai, Hideaki; Sano, Hajime

    2017-01-01

    Familial mediterranean fever (FMF) is a single inherited autoinflammatory disease characterized by periodic fever with relatively short duration of 1 to 3 days and sterile serositis. Although the prevalence rate is highest in the Mediterranean coastal area, a large number of cases have been reported recently by genetic analysis by identification of MEFV (Mediterranean fever) which is responsible gene in Japan too. In outpatient department of rheumatology, diagnosis and treatment of FMF is performed in cases where fever and abdominal pain attack are repeated for a short period of time. We examined cases in which symptoms considered periodic seizures were repeated, excluding autoimmune diseases, infectious diseases, and malignant tumors. In both cases, genetic analysis is performed as auxiliary diagnosis. Seven cases satisfied the Tel-Hashomer criteria criteria and MEFV gene mutation was detected. Everyone was a female, and half had seizure symptoms at menstruation. Even though there is a difference in the amount of colchicine to be used, either one is effective. In cases of periodic symptoms or cases called periodic fever, exclusion diagnosis is carried out, there is a need to suspect FMF, determine the effect of colchicine, and perform genetic analysis.

  7. Diffuse and multifocal nephrogenic adenoma with Familial Mediterranean Fever: a case report with molecular study.

    Science.gov (United States)

    Ishikawa, Noriyoshi; Amano, Chika; Taketani, Takeshi; Kumori, Koji; Harada, Yuji; Hiraiwa, Hisayuki; Itamura, Kayoko; Maruyama, Riruke

    2015-07-16

    Nephrogenic adenoma, also referred to nephrogenic metaplasia, is a benign proliferative lesion of urothelium, usually associated with chronic physical stimuli or inflammation. Familial Mediterranean fever is an inherited autosomal recessive disease characterized by recurrent short episodes of fever. The site of mutation is found in MEFV gene which controls inflammatory responses. We have experienced a case of nephrogenic adenoma in a 16-year-old girl with Familial Mediterranean Fever, showing proliferative lesions diffusely in the urinary bladder and multifocally in the other parts of urinary tract. These lesions disappeared after colchicine treatment. We searched for MEFV gene mutation using the specimen from the resected urinary bladder and detected heterozygous mutation of E148Q. There is a possibility that control of inflammation caused by the surgery for vesicoureteral reflux in the local site didn't work well on the background of heterozygous mutation of MEFV gene, and as a result, nephrogenic adenoma appeared. This is the first report of a combination of two rare diseases. We have to be aware that nephrogenic adenoma can occur in association with Familial Mediterranean Fever, and the former condition should be taken into consideration when rendering a correct pathological diagnosis.

  8. Familial Mediterranean fever and cryptogenic cirrhosis.

    Science.gov (United States)

    Tweezer-Zaks, Nurit; Doron-Libner, Anat; Weiss, Perez; Ben-Horin, Shomron; Barshack, Iris; Lidar, Merav; Livneh, Avi

    2007-11-01

    Familial Mediterranean fever (FMF) is a febrile disease characterized by acute, spontaneously resolving episodes of fever and pain caused by serosal inflammation and associated with mutations in the FMF gene, MEFV. Prophylaxis is maintained with colchicine. To our knowledge, no study has yet shown an association between FMF and cirrhosis of the liver. We conducted the current study to describe cryptogenic cirrhosis in FMF and to examine the possible relationship between the 2 entities. Patients with chronic liver disease were retrospectively identified through a computer search of a registry of 6000 patients with FMF followed in the clinics of the National Center for FMF. Data pertaining to FMF phenotype and genotype and characteristics of the liver disease were abstracted from patients' charts. Cryptogenic cause of cirrhosis was determined by exclusion of known causes of liver disease. Nine patients with cryptogenic cirrhosis were identified, comprising 0.15% of the FMF patient population, a rate significantly higher than the rate of 0.015% of cirrhosis of all types expected in the total population of Israel (p cirrhosis diagnosis, and was classified as A in 4 of them. These findings suggest that MEFV may serve as a modifier gene in cryptogenic cirrhosis. Genetic analysis in patients with cryptogenic cirrhosis unrelated to FMF, particularly patients of a Mediterranean origin, may be warranted in future studies.

  9. Familial Mediterranean fever variant with repeated atypical skin eruptions.

    Science.gov (United States)

    Takahashi, Tomoko; Fujisawa, Tomomi; Kimura, Masaki; Ohnishi, Hidenori; Seishima, Mariko

    2015-09-01

    Familial Mediterranean fever (FMF) is characterized by self-limited bouts of fever and polyserositis. Skin involvement is not common in FMF, and erysipelas-like erythema is found to be the most frequent skin eruption which is often accompanied by arthritis and fever, and disappears within 12-72 h. We report a 40-year-old Japanese woman who presented with a 2-year history of recurrent fever with general fatigue, polyarthralgia and transient maculopapular eruptions on her lower extremities and trunk. The histological findings of the maculopapular eruption showed lymphocyte infiltration around the capillaries in the entire dermis. Mutation analysis showed a heterozygous E148Q-P369S mutation of MEFV. These findings suggested a diagnosis of late-onset FMF variant with atypical skin eruptions. The patient was successfully treated with colchicine. Thus, we should pay attention to repeated atypical skin eruptions for the early detection of atypical FMF. © 2015 Japanese Dermatological Association.

  10. Diagnostic criteria of familial Mediterranean fever.

    Science.gov (United States)

    Berkun, Yackov; Eisenstein, Eli M

    2014-01-01

    Familial Mediterranean fever (FMF) is the most prevalent monogenic autoinflammatory disease, mainly affecting ethnic groups living at Mediterranean basin. FMF is characterized by recurrent, self-limited episodes of fever and serositis. The diagnosis is difficult in the presence of atypical signs, which may result in significant delay in initiating treatment. As autoinflammatory diseases may have overlapping symptoms, strict diagnostic criteria are essential. Since the discovery that mutations in the gene MEFV underlie FMF, molecular genetic testing has been used as a diagnostic adjunct, especially in atypical cases. However, despite progress in the understanding of FMF disease mechanisms during the past 15 years; the diagnosis is still based on clinical criteria. Several sets of diagnostic criteria have been proposed and used. Existing diagnostic criteria should be modified to include genetic data, and need to be more widely validated. Copyright © 2014 Elsevier B.V. All rights reserved.

  11. Fever of unknown origin in the outpatient setting: A retrospective analysis of 30 cases of familial Mediterranean fever.

    Science.gov (United States)

    Kunimatsu, Junwa; Maeda, Junko; Watanabe, Riri; Kato, On; Kishida, Dai; Yazaki, Masahide; Nakamura, Akinori

    2016-01-01

    In Japan, familial Mediterranean fever (FMF) is a rare cause of fever of unknown origin (FUO). However, we experienced an extraordinary number of FMF cases over 3 years. This suggests that many patients with FMF remain misdiagnosed in Japan. This study examines the clinical picture of FMF to assist Japanese clinicians in daily practice dealing with FUO. Three years of medical records were reviewed, and 38 patients with FMF or suspected FMF were collected from our patient database. We applied the Tel-Hashomer criteria to those patients. Of the 38 patients, 30 were classified as having FMF in this investigation. The mean patient age was 27.8 years. MEFV gene mutations were detected in 14 patients. Three cases were colchicine-resistant. Clinicians should recognize the pattern of short, spontaneously resolving attacks of fever with fever-free intervals, especially when they see patients with recurrent FUO in the outpatient setting.

  12. Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations

    OpenAIRE

    Kishida, Dai; Nakamura, Akinori; Yazaki, Masahide; Tsuchiya-Suzuki, Ayako; MATSUDA, Masayuki; Ikeda, Shu-ichi

    2014-01-01

    Introduction Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent self-limiting fever and serositis that mainly affects Mediterranean populations. Many patients with FMF have been reported in Japan due to increasing recognition of this condition and the availability of genetic analysis for the gene responsible, MEFV. The present study was performed to elucidate the clinical characteristics of Japanese FMF patients and to examine the precise ge...

  13. Familial Mediterranean fever--a review.

    Science.gov (United States)

    Shohat, Mordechai; Halpern, Gabrielle J

    2011-06-01

    Familial Mediterranean fever is inherited in an autosomal recessive manner. There are two phenotypes: types 1 and 2. Familial Mediterranean fever type 1 is characterized by recurrent short episodes of inflammation and serositis, including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to renal failure, is the most severe complication. Familial Mediterranean fever type 2 is characterized by amyloidosis as the first clinical manifestation of familial Mediterranean fever in an otherwise asymptomatic individual. Routine treatment of end-stage renal disease, including renal transplantation, is advised. Lifelong treatment with colchicine is required for homozygotes for the p.Met694Val mutation or compound heterozygotes for p.Met694Val and another disease-causing allele; this prevents the inflammatory attacks and the deposition of amyloid. Individuals who do not have the p.Met694Val mutation and who are only mildly affected should be either treated with colchicine or monitored every 6 months for the presence of proteinuria. Molecular genetic testing of the MEFV gene, the only gene currently known to be associated with familial Mediterranean fever, can be offered to family members, especially when the p.Met694Val allele is present, because renal amyloidosis can be prevented by colchicine.

  14. Familial Mediterranean fever: current perspectives

    Directory of Open Access Journals (Sweden)

    Sönmez HE

    2016-03-01

    Full Text Available Hafize Emine Sönmez,* Ezgi Deniz Batu,* Seza ÖzenDepartment of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey *These authors contributed equally to this workAbstract: Familial Mediterranean fever (FMF is the most frequent monogenic autoinflammatory disease, and it is characterized by recurrent attacks of fever and polyserositis. The disease is associated with mutations in the MEFV gene encoding pyrin, which causes exaggerated inflammatory response through uncontrolled production of interleukin 1. The major long-term complication of FMF is amyloidosis. Colchicine remains the principle therapy, and the aim of treatment is to prevent acute attacks and the consequences of chronic inflammation. With the evolution in the concepts about the etiopathogenesis and genetics of the disease, we have understood that FMF is more complicated than an ordinary autosomal recessive monogenic disorder. Recently, recommendation sets have been generated for interpretation of genetic testing and genetic diagnosis of FMF. Here, we have reviewed the current perspectives in FMF in light of recent recommendations.Keywords: familial Meditarranean fever, recommendation, child

  15. Canakinumab as rescue therapy in familial Mediterranean fever refractory to conventional treatment

    OpenAIRE

    Alpa M; Roccatello D

    2015-01-01

    Mirella Alpa, Dario Roccatello Centro di Ricerche di Immunopatologia e Documentazione su Malattie Rare (CMID), Struttura Complessa Direzione Universitaria di Immunologia Clinica, Università di Torino e Ospedale G Bosco, Torino, ItalyAbstract: Familial Mediterranean fever is an autosomal recessive autoinflammatory disorder mainly affecting Mediterranean populations, which is associated with mutations of the MEFV gene that encodes pyrin. Functional studies suggest that pyrin is impli...

  16. Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case–control study

    Directory of Open Access Journals (Sweden)

    Coşkun S

    2016-08-01

    Full Text Available Salih Coşkun,1 Sefer Varol,2 Hasan H Özdemir,2 Sercan Bulut Çelik,3 Metin Balduz,4 Mehmet Akif Camkurt,5 Abdullah Çim,1 Demet Arslan,2 Mehmet Uğur Çevik2 1Department of Medical Genetics, 2Department of Neurology, Faculty of Medicine, Dicle University, Diyarbakir, 3Family Health Center, Batman, 4Department of Neurology, Şanlıurfa Education and Research Hospital, Şanlıurfa, 5Department of Psychiatry, Afsin State Hospital, Kahramanmaraş, Turkey Abstract: Migraine pathogenesis involves a complex interaction between hormones, neurotransmitters, and inflammatory pathways, which also influence the migraine phenotype. The Mediterranean fever gene (MEFV encodes the pyrin protein. The major role of pyrin appears to be in the regulation of inflammation activity and the processing of the cytokine pro-interleukin-1β, and this cytokine plays a part in migraine pathogenesis. This study included 220 migraine patients and 228 healthy controls. Eight common missense mutations of the MEFV gene, known as M694V, M694I, M680I, V726A, R761H, K695R, P369S, and E148Q, were genotyped using real-time polymerase chain reaction with 5' nuclease assays, which include sequence specific primers, and probes with a reporter dye. When mutations were evaluated separately among the patient and control groups, only the heterozygote E148Q carrier was found to be significantly higher in the control group than in the patient group (P=0.029, odds ratio [95% confidence interval] =0.45 [0.21–0.94]. In addition, the frequency of the homozygote and the compound heterozygote genotype carrier was found to be significantly higher in patients (n=8, 3.6% than in the control group (n=1, 0.4% (P=0.016, odds ratio [95% confidence interval] =8.57 [1.06–69.07]. However, there was no statistically significant difference in the allele frequencies of MEFV mutations between the patients and the healthy control group (P=0.964. In conclusion, the results of the present study suggest that

  17. The spectrum of Familial Mediterranean Fever (FMF) mutations.

    Science.gov (United States)

    Touitou, I

    2001-07-01

    Familial Mediterranean Fever (FMF) is the prototype of a group of inherited inflammatory disorders. The gene (MEFV) responsible for this disease, comprises 10 exons and 781 codons. Twenty-nine mutations, most located in the last exon, have been identified so far. It is unclear whether all are true disease-causing mutations. Five founder mutations, V726A, M694V, M694I, M680I and E148Q account for 74% of FMF chromosomes from typical cases (Armenians, Arabs, Jews, and Turks). Rare mutations are preferentially found in populations not usually affected by FMF (eg Europeans not from the above ancestries). The various combinations of MEFV mutations define severe to mild genotypes. The trend is that genotypes including two mutations located within mutational 'hot-spots' (codons 680 or 694) of the gene are associated with severe phenotypes, whereas mild phenotypes are associated with some other mutations, E148Q being the mildest and least penetrant. Understanding the correlation between the FMF phenotype and genotype is further obscured by the existence of complex alleles, modifier loci, genetic heterogeneity and possible epigenetic factors. Additionally, mutations in the MEFV gene are thought to be involved in non FMF disorders. Carrier rates for FMF mutations may be as high as 1:3 in some populations, suggesting that the disease is underdiagnosed. This review update emphasises that both clinical and genetic features are to be taken into account for patient diagnosis, colchicine treatment and prognosis.

  18. Association of clinical and genetical features in FMF with focus on MEFV strip assay sensitivity in 452 children from western Anatolia, Turkey.

    Science.gov (United States)

    Ozturk, Can; Halicioglu, Oya; Coker, Işil; Gulez, Nesrin; Sutçuoglu, Sumer; Karaca, Neslihan; Aksu, Guzide; Kutukculer, Necil

    2012-03-01

    The aim of this study was to determine the relationship between clinical findings and the most common mutated alleles of MEFV gene in a childhood population and to determine the sensitivity of the 12-mutation-strip assay test in familial Mediterranean fever (FMF). Records of 452 FMF children living in western Anatolia, Turkey, (12.3 ± 4.7 years mean) were retrospectively reviewed. Of the 408 patients who met the Tel-Hashomer criteria, 364 were classified into two main groups (two-mutant/one-mutant allele) either of which had three subgroups. The two-mutant allele frequency was 51% and one-mutant allele 38%; 1% had complex-mutant alleles and 10% no mutant-alleles. The mean severity score was 8.3 ± 2.5. Most common clinical features were fever (81.9%), abdominal pain (86.3%) and myalgia (58.8%), and the least common ones: diarrhea (1.7%), protracted febrile myalgia (1.2%) and acute orchitis (1.5%). We detected 33 different genotypes of the MEFV gene: the most common mutant allele was M694V followed by symptomatic allele mutation of E148Q. Although not significantly associated with clinical findings, P369S mutation was not rare (7.5%). Phenotype-genotype correlation revealed that patients with two-allele mutations had more severe clinical presentation and high constipation rate (22.5%); 32.6% of patients with M694V/M694V had splenomegaly. Acute orchitis and protracted febrile myalgia as rare clinical findings were more common in M694V homozygotes. Comparisons of clinical findings among patients with one-mutation allele were made for the first time, but no significant association was found. Positive predictive value of strip assay screening for 12 mutations was recorded as 89%. We suggest that whole sequence analysis for supportive diagnosis of FMF should be performed for selected patients only.

  19. Differentiating PFAPA syndrome from monogenic periodic fevers.

    Science.gov (United States)

    Gattorno, Marco; Caorsi, Roberta; Meini, Antonella; Cattalini, Marco; Federici, Silvia; Zulian, Francesco; Cortis, Elisabetta; Calcagno, Giuseppina; Tommasini, Alberto; Consolini, Rita; Simonini, Gabriele; Pelagatti, Maria Antonietta; Baldi, Maurizia; Ceccherini, Isabella; Plebani, Alessandro; Frenkel, Joost; Sormani, Maria Pia; Martini, Alberto

    2009-10-01

    To analyze whether there were clinical differences between genetically positive and negative patients fulfilling periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome criteria and to test the accuracy of the Gaslini diagnostic score for identifying patients with PFAPA syndrome with higher probabilities of carrying relevant mutations in genes associated with periodic fevers. Complete clinical and genetic information was available for 393 children with periodic fever; 82 had positive genetic test results, 75 had incomplete genetic test results, and 236 had negative results for MVK, TNFRSF1A, and MEFV mutations. Current diagnostic criteria for PFAPA syndrome were applied. Of 393 children, 210 satisfied PFAPA syndrome criteria; 43 carried diagnostic mutations (mevalonate kinase deficiency: n = 33; tumor necrosis factor receptor-associated periodic syndrome: n = 3; familial Mediterranean fever: n = 7), 37 displayed low-penetrance mutations or incomplete genotypes, and 130 demonstrated negative genetic testing results. Genetically positive patients had higher frequencies of abdominal pain and diarrhea (P < .001), vomiting (P = .006), and cutaneous rash and arthralgia (P = .01). Genetically negative patients had a higher frequency of exudative pharyngitis (P = .010). Genetically undetermined patients showed the same pattern of symptom frequency as genetically negative patients. The Gaslini diagnostic score was able to identify 91% of genetically positive patients correctly, with a global accuracy of 66%. The Gaslini diagnostic score represents a useful tool to identify patients meeting PFAPA syndrome criteria and at low risk of carrying relevant mutations in genes associated with periodic fevers.

  20. Hemorrhagic Fevers

    Science.gov (United States)

    ... of viruses. These include the Ebola and Marburg, Lassa fever, and yellow fever viruses. VHFs have common features: ... the animals that carry them live. For example, Lassa fever is limited to rural areas of West Africa ...

  1. Isolated recurrent pleuritis revealing familial mediterranean Fever in adulthood.

    Science.gov (United States)

    Lega, J C; Khouatra, C; Cottin, V; Cordier, J F

    2010-01-01

    Familial Mediterranean fever (FMF) is a genetic autoinflammatory disease especially affecting populations of Mediterranean origin with an autosomal recessive inheritance. The cardinal manifestations consist of short febrile and painful attacks of peritonitis, arthritis and pleuritis developing during childhood. We report the case of a 26-year-old man of Tunisian descent who had febrile episodes of right-sided pleuritis without any extrathoracic complaints. Disappearance of attacks with one dose of colchicine (1 mg/day) strengthened the presumptive diagnosis of atypical FMF, which was further confirmed by genetic testing identifying the homozygous mutation M694I/M694I of the MEFV gene.

  2. Cutaneous necrotizing vasculitis as a manifestation of familial Mediterranean fever.

    Science.gov (United States)

    Komatsu, Shigetsuna; Honma, Masaru; Igawa, Satomi; Tsuji, Hitomi; Ishida-Yamamoto, Akemi; Migita, Kiyoshi; Ida, Hiroaki; Iizuka, Hajime

    2014-09-01

    Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease, which is characterized by recurrent and paroxysmal fever, peritonitis, arthritis, myalgia, and skin rashes. Although various skin lesions such as "erysipelas-like erythema", urticaria, nonspecific purpura, and subcutaneous nodules have been described, cutaneous vasculitis is rare. We report a Japanese case of sporadic FMF accompanied by cutaneous arteritis at the time of febrile attacks of FMF. Gene analysis revealed M694I mutation in a single allele of the MEFV gene, and oral colchicine successfully controlled both periodic fever and subcutaneous nodules of arteritis. Cutaneous necrotizing vasculitis repeatedly emerging with febrile attacks should be included among the skin manifestations of FMF. © 2014 Japanese Dermatological Association.

  3. Malignant nephrosclerosis in a patient with familial Mediterranean fever.

    Science.gov (United States)

    Yamanouchi, Masayuki; Ubara, Yoshifumi; Imafuku, Aya; Kawada, Masahiro; Koki, Mise; Sumida, Keiichi; Hiramatsu, Rikako; Hasegawa, Eiko; Hayami, Noriko; Suwabe, Tatsuya; Hoshino, Junichi; Sawa, Naoki; Ohashi, Kenichi; Fujii, Takeshi; Matsuda, Masayuki; Takaichi, Kenmei

    2015-01-01

    A 37-year-old man was admitted to our hospital for an evaluation of renal dysfunction and hypertension. The C-reactive protein level was 6.0 mg/dL, and the serum renin activity was extremely high. A renal biopsy showed malignant nephrosclerosis-like lesions with an onion skin pattern. He had a history of recurrent abdominal pain associated with periodic fevers above 38 degrees that resolved within three days. A MEditerranean FeVer (MEFV) gene analysis revealed that he was homozygous for the E148Q polymorphism (exon 2) and heterozygous for the L110P polymorphism (exon 2). The present case demonstrates that persistent subclinical inflammation can lead to malignant nephrosclerosis in familial Mediterranean fever patients with this genotype.

  4. Canakinumab as rescue therapy in familial Mediterranean fever refractory to conventional treatment.

    Science.gov (United States)

    Alpa, Mirella; Roccatello, Dario

    2015-01-01

    Familial Mediterranean fever is an autosomal recessive autoinflammatory disorder mainly affecting Mediterranean populations, which is associated with mutations of the MEFV gene that encodes pyrin. Functional studies suggest that pyrin is implicated in the maturation and secretion of interleukin-1 (IL-1). The IL-1 receptor antagonist or anti-IL-1 monoclonal antibody may therefore represent a rational approach for the treatment of the rare patients who are refractory to conventional therapy. We report the case of a young female affected by familial Mediterranean fever who proved to be resistant to colchicine and was successfully treated with canakinumab.

  5. 38-year-old woman with recurrent abdominal pain, but no fever

    Directory of Open Access Journals (Sweden)

    Iwata K

    2012-03-01

    Full Text Available Kentaro Iwata1, Tomoko Toma2, Akihiro Yachie21Department of Infectious Diseases, Kobe University Hospital, Kobe, Japan; 2Department of Pediatrics, Graduate School of Medical Science and School of Medicine, Kanazawa University, Kanazawa, JapanAbstract: A 38-year-old woman presented with 2 days history of left-flank pain. She had similar episodes of abdominal pain as well as chest pain several times, but symptoms disappeared spontaneously. Each time she developed pain, there was no fever. After ruling out common causes of recurrent abdominal pain, familial Mediterranean fever (FMF was considered as a potential diagnosis. Genetic tests revealed multiple heterozygote mutations, which may be associated with FMF. Patients with Mediterranean fever mutations may present with atypical presentations without fever, like in this case. Astute clinical suspicion is required to make an accurate diagnosis.Keywords: familial Mediterranean fever, MEFV mutation, afebrile

  6. The relative contribution of environmental and genetic factors to phenotypic variation in familial Mediterranean fever (FMF).

    Science.gov (United States)

    Ben-Zvi, Ilan; Brandt, Benny; Berkun, Yackov; Lidar, Merav; Livneh, Avi

    2012-01-10

    Familial Mediterranean fever (FMF) is an autosomal recessive disease, caused by mutations in the FMF gene MEFV (MEditerranean FeVer). It has a large phenotypic diversity even in patients with similar genotypes. Despite evidence that environmental factors (EFs) and genetic factors, including MEFV mutations (such as M694V, E148Q) and background modifier genes (MGs), affect the clinical manifestations of FMF, the relative contribution of each remains unknown. To investigate the relative contribution of environmental and genetic factors to the phenotype of FMF, we compared the intra-pair clinical concordance of 10 mono and 7 dizygotic twins with FMF. The part played by EFs was determined by the phenotypic discordance of the monozygous twins, and the MGs effect was determined by deducing the environmental effect, computed for MZ twins, from the phenotypic discordance of the dizygous twins. The mean±SD of intra-pair concordance was higher in the MZ than in DZ twin group (88.1±13.2 vs. 70.7±14.1 respectively, P valueFMF is estimated as 11.9%±6.6% and the MGs effect as 17.4%±15.5% in average. In FMF the phenotype is affected by MEFV mutations, MGs and EFs in an estimated ratio of about 6:1.5:1 respectively. Copyright © 2011 Elsevier B.V. All rights reserved.

  7. Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever

    Science.gov (United States)

    Yasunami, Michio; Nakamura, Hitomi; Agematsu, Kazunaga; Nakamura, Akinori; Yazaki, Masahide; Kishida, Dai; Yachie, Akihiro; Toma, Tomoko; Masumoto, Junya; Ida, Hiroaki; Koga, Tomohiro; Kawakami, Atsushi; Eguchi, Katsumi; Furukawa, Hiroshi; Nakamura, Tadashi; Nakamura, Minoru; Migita, Kiyoshi

    2015-01-01

    Objectives The genotype-phenotype correlation of MEFV remains unclear for the familial Mediterranean fever (FMF) patients, especially without canonical MEFV mutations in exon 10. The risk of FMF appeared to be under the influence of other factors in this case. The contribution of HLA polymorphisms to the risk of FMF was examined as strong candidates of modifier genes. Methods Genotypes of HLA-B and -DRB1 loci were determined for 258 mutually unrelated Japanese FMF patients, who satisfied modified Tel-Hashomer criteria, and 299 healthy controls. The effects of carrier status were evaluated for the risk of FMF by odds ratio (OR). The HLA effects were also assessed for clinical forms of FMF, subsets of FMF with certain MEFV genotypes and responsiveness to colchicine treatment. Results The carriers of B*39:01 were increased in the patients (OR = 3.25, p = 0.0012), whereas those of DRB1*15:02 were decreased (OR = 0.45, p = 0.00050), satisfying Bonferroni’s correction for multiple statistical tests (n = 28, pFMF even in those with high-penetrance MEFV mutations. PMID:25974247

  8. [Amyloidosis of familial Mediterranean fever (FMF)--insights to FMF phenotype II].

    Science.gov (United States)

    Livneh, Avi

    2006-10-01

    Amyloidosis is the most grievous manifestation of Familial Mediterranean Fever (FMF), occurring in a high proportion of untreated patients. Continuously elevated serum amyloid A (SAA) levels during remissions, rather than a pulsatile rise during FMF attacks, underlies the development of amyloidosis. FMF phenotype II is one extreme of AA amyloidosis, evolving despite a complete absence of FMF attacks. FMF phenotype II is diagnosed in patients with AA amyloidosis in the context of a family history of FMF. In these patients and in patients with AA amyloidosis without family history of FMF and with unknown precipitating disease, MEFV gene analysis is mandatory. Moreover, since FMF phenotype II is an actual hazard, a cost-benefit analysis suggests that MEFV mutation determination in all first-degree family members of FMF patients is warranted, as it will significantly reduce future patient treatment costs.

  9. Valley Fever

    Science.gov (United States)

    Valley Fever is a disease caused by a fungus (or mold) called Coccidioides. The fungi live in the soil ... from person to person. Anyone can get Valley Fever. But it's most common among older adults, especially ...

  10. Lassa Fever

    Science.gov (United States)

    ... The CDC Cancel Submit Search The CDC Lassa Fever Note: Javascript is disabled or is not supported ... French) Recommend on Facebook Tweet Share Compartir Lassa fever is an acute viral illness that occurs in ...

  11. Scarlet fever

    Science.gov (United States)

    ... the throat infection. This is crucial to prevent rheumatic fever, a serious complication of strep throat and scarlet ... with the right treatment, but may include: Acute rheumatic fever , which can affect the heart, joints, skin, and ...

  12. The myths we believed in familial Mediterranean fever: what have we learned in the past years?

    Science.gov (United States)

    Ozen, Seza; Batu, Ezgi Deniz

    2015-07-01

    Familial Mediterranean fever is the most common monogenic periodic fever syndrome over the world especially in the eastern Mediterranean. It presents with recurrent and self-limited inflammatory attacks of fever and polyserositis along with high acute-phase reactants. The disease is associated with mutations in the MEFV gene that encodes pyrin, a component of inflammasome, which leads to exaggerated inflammatory response through uncontrolled production of interleukin 1. With the identification of the gene associated with the disease, we believed that everything was solved and that this was an ordinary monogenic disease with autosomal recessive inheritance. However, through the breathtaking progress in the basic research field as well as the clinical care of these patients, we have understood that the picture for this monogenic disorder was more complicated than we had anticipated. In this review, we have discussed the myths we believed in familial Mediterranean fever and how they have evolved during the past years.

  13. Coexistence of Familial Mediterranean Fever and Hyperimmunoglobulinemia D Syndrome in a Child

    Directory of Open Access Journals (Sweden)

    Resul Yilmaz

    2014-03-01

    Full Text Available     Hereditary periodic fever syndromes are Mendelian inherited single gene diseases which are also known as hereditary autoinflammatory syndromes, are characterized by recurrent attacks of fever and inflammation. Familial Mediterranean Fever and Hyperimmunoglobulinemia D syndrome are prototypes and are inherited autosomal recessively. The diagnosis is based on clinical course, family history and is confirmed with genetic mutation analysis. We describe a 5- year-old boy who had recurrent attacks of fever, skin rash, and cervical lymphadenopathy since he was 2 years old. His genetic analysis revealed homozygous M694V and V377I for MEFV and MVK gene respectively. Due to our knowledge, this is the first report of a patient who has both HIDS and FMF clinical and genetic features.

  14. Renal amyloidosis due to familial Mediterranean fever misdiagnosed

    Directory of Open Access Journals (Sweden)

    Iman Hama

    2012-01-01

    Full Text Available Familial Mediterranean fever (FMF, MIM 249100 is an autosomal recessive disease affecting mainly patients of the Mediterranean basin. It is an autoinflammatory periodic disorder characterized by recurrent episodes of fever and abdominal pain, synovitis, and pleuritis. The major complication of FMF is the development of renal AA amyloidosis. Treatment with colchicine prevents the occurrence of recurrent seizures and renal amyloidosis. The disease is caused by mutations in the MEFV gene. We report here the cases of two unrelated patients, who have been late diagnosed with FMF complicated by renal amyloidosis. We focus on the importance of early diagnosis of FMF, both to start rapidly treatment with colchicine and avoid renal amyloidosis, and to provide genetic counseling to families.

  15. Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case–control study

    Science.gov (United States)

    Coşkun, Salih; Varol, Sefer; Özdemir, Hasan H; Çelik, Sercan Bulut; Balduz, Metin; Camkurt, Mehmet Akif; Çim, Abdullah; Arslan, Demet; Çevik, Mehmet Uğur

    2016-01-01

    Migraine pathogenesis involves a complex interaction between hormones, neurotransmitters, and inflammatory pathways, which also influence the migraine phenotype. The Mediterranean fever gene (MEFV) encodes the pyrin protein. The major role of pyrin appears to be in the regulation of inflammation activity and the processing of the cytokine pro-interleukin-1β, and this cytokine plays a part in migraine pathogenesis. This study included 220 migraine patients and 228 healthy controls. Eight common missense mutations of the MEFV gene, known as M694V, M694I, M680I, V726A, R761H, K695R, P369S, and E148Q, were genotyped using real-time polymerase chain reaction with 5′ nuclease assays, which include sequence specific primers, and probes with a reporter dye. When mutations were evaluated separately among the patient and control groups, only the heterozygote E148Q carrier was found to be significantly higher in the control group than in the patient group (P=0.029, odds ratio [95% confidence interval] =0.45 [0.21–0.94]). In addition, the frequency of the homozygote and the compound heterozygote genotype carrier was found to be significantly higher in patients (n=8, 3.6%) than in the control group (n=1, 0.4%) (P=0.016, odds ratio [95% confidence interval] =8.57 [1.06–69.07]). However, there was no statistically significant difference in the allele frequencies of MEFV mutations between the patients and the healthy control group (P=0.964). In conclusion, the results of the present study suggest that biallelic mutations in the MEFV gene could be associated with a risk of migraine in the Turkish population. Moreover, MEFV mutations could be related to increased frequency and short durations of migraine attacks (P=0.043 and P=0.021, respectively). Future studies in larger groups and expression analysis of MEFV are required to clarify the role of the MEFV gene in migraine susceptibility. PMID:27621632

  16. Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case-control study.

    Science.gov (United States)

    Coşkun, Salih; Varol, Sefer; Özdemir, Hasan H; Çelik, Sercan Bulut; Balduz, Metin; Camkurt, Mehmet Akif; Çim, Abdullah; Arslan, Demet; Çevik, Mehmet Uğur

    2016-01-01

    Migraine pathogenesis involves a complex interaction between hormones, neurotransmitters, and inflammatory pathways, which also influence the migraine phenotype. The Mediterranean fever gene (MEFV) encodes the pyrin protein. The major role of pyrin appears to be in the regulation of inflammation activity and the processing of the cytokine pro-interleukin-1β, and this cytokine plays a part in migraine pathogenesis. This study included 220 migraine patients and 228 healthy controls. Eight common missense mutations of the MEFV gene, known as M694V, M694I, M680I, V726A, R761H, K695R, P369S, and E148Q, were genotyped using real-time polymerase chain reaction with 5' nuclease assays, which include sequence specific primers, and probes with a reporter dye. When mutations were evaluated separately among the patient and control groups, only the heterozygote E148Q carrier was found to be significantly higher in the control group than in the patient group (P=0.029, odds ratio [95% confidence interval] =0.45 [0.21-0.94]). In addition, the frequency of the homozygote and the compound heterozygote genotype carrier was found to be significantly higher in patients (n=8, 3.6%) than in the control group (n=1, 0.4%) (P=0.016, odds ratio [95% confidence interval] =8.57 [1.06-69.07]). However, there was no statistically significant difference in the allele frequencies of MEFV mutations between the patients and the healthy control group (P=0.964). In conclusion, the results of the present study suggest that biallelic mutations in the MEFV gene could be associated with a risk of migraine in the Turkish population. Moreover, MEFV mutations could be related to increased frequency and short durations of migraine attacks (P=0.043 and P=0.021, respectively). Future studies in larger groups and expression analysis of MEFV are required to clarify the role of the MEFV gene in migraine susceptibility.

  17. Familial Mediterranean fever in siblings.

    Science.gov (United States)

    Özçakar, Z Birsin; Erdogan, Beyza Doganay; Elhan, Atilla H; Yalçinkaya, Fatoş

    2012-11-01

    Genetic and environmental factors have been implicated in disease severity and development of amyloidosis in familial Mediterranean fever (FMF). We investigated similarities in clinical characteristics, disease severity, and treatment response within siblings with FMF. The study group consisted of 2 or more siblings who were followed in our center with the diagnosis of FMF. Siblings were evaluated for demographic data, clinical and laboratory disease features, genetic analysis of MEFV mutations, and disease severity score. The intraclass correlation coefficient (ICC), which can be interpreted as the expected correlation between 2 siblings, was used to reflect within-family similarity. The study included 67 pediatric patients from 31 different families. When we investigated the similarity of siblings after adjusting for genetic effects, we found very low ICC with p > 0.05 in the majority of clinical features, disease severity, and colchicine dosages. However, age at disease onset, age at onset of therapy, attack-free acute-phase reactant levels, and presence of amyloidosis were found to be similar within siblings (relatively high ICC with p < 0.05). Siblings with FMF had different clinical findings and disease severity. They had similar amyloidogenic potential, proven by both similar presence of amyloid and increased levels of acute-phase reactants between attacks. Our findings strongly support that genetic factors may be more dominant in the development of amyloidosis.

  18. Haemorrhagic Fevers, Viral

    Science.gov (United States)

    ... is usually applied to disease caused by Arenaviridae (Lassa fever, Junin and Machupo), Bunyaviridae (Crimean-Congo haemorrhagic fever, ... fever Dengue and severe dengue Ebola virus disease Lassa fever Marburg haemorrhagic fever Rift Valley fever Multimedia, features ...

  19. Relationship between periodontal destruction and gene mutations in patients with familial Mediterranean fever.

    Science.gov (United States)

    Sezer, Ufuk; Şenyurt, Süleyman Ziya; Özdemir, Eda Çetin; Zengin, Orhan; Üstün, Kemal; Erciyas, Kamile; Kısacık, Bünyamin; Onat, Ahmet Mesut

    2016-07-01

    Recent studies have shown that genetic factors involved in the host responses might determine the disease severity for both familial Mediterranean fever (FMF) and periodontitis. The present study aimed to investigate the relationship of FMF with periodontitis and to search for the potential association between periodontitis and MEFV gene missense variations in patients with FMF. The study consisted of 97 FMF patients and 34 healthy volunteers. FMF patients were classified according to the kind of MEFV gene mutation: (1) patients with homozygous M694V gene mutation, (2) patients with heterozygous M694V gene mutation, and (3) patients with MEFV gene different mutations. Gingival Index (GI), Plaque Index (PI), probing pocket depth (PD), and clinical attachment level (CAL) were measured in all participants. The results of multivariate logistic regression showed a highly significant association between homozygous M694V gene mutation and periodontitis in FMF patients (p < 0.05). After adjusting for potential confounders (smoking, body weight, age, and gender), FMF patients with homozygous M694V gene mutation were 3.51 (1.08-11.45) times more likely to present periodontitis than the other FMF patients. These results indicate that the presence of homozygous M694V gene mutation seems to increase the risk for periodontitis in FMF patients.

  20. The gene for familial Mediterranean fever in both Armenians and non-Ashkenazi Jews is linked to the alpha-globin complex on 16p: evidence for locus homogeneity.

    OpenAIRE

    1992-01-01

    Familial Mediterranean fever (FMF) is a recurrent inflammatory disorder characterized by short episodes of fever, peritonitis, pleuritis, and arthritis. While FMF has been shown to be inherited in an autosomal recessive fashion in both non-Ashkenazi Jews and Armenian families, clinical differences have raised the possibility of genetic heterogeneity. As its pathogenesis is unknown, mapping of the gene for FMF may provide the first objective method for early and accurate diagnosis of this dise...

  1. Distribution of Familial Mediterranean Fever mutations in surgical emergencies including nonspecific abdominal pain: Surgical point of view

    Directory of Open Access Journals (Sweden)

    Pinar Yazici

    2014-08-01

    Full Text Available Purpose : Familial Mediterranean fever (FMF is characterized by recurrent episodes of fever and serositis, resulting in pain in the abdomen, chest, joints and muscles. While patients diagnosed with FMF are under follow-up of the internal medicine doctors, surgeons are rarely responsible the initial diagnosis of FMF. We aimed to investigate the frequency of the FMF in the surgical emergency in those with acute nonspecific abdominal pain. Material and Methods: All patients admitted to emergency service due to acute abdominal pain were evaluated and those resulted with nonspecific pain were enrolled. During six months period, patients consistent with above criteria were examined with abdominal x-ray and ultrasound(US, hematological and biochemical test, and physical examinations. Nine type of FMF mutations were investigated in the patients. All results were comparatively evaluated considering MEFV (+ or MEFV(-. Results: There were 68 patients (35, 51.4% male and 33, 48.5% female with a mean age of 29.5+/-10.1 (range: 17-49 years. All patients displayed mild or severe abdominal pain. Genetic analysis revealed that 19 [MEFV(+] out of 68 patients (27,9% carry mutation either homozygote or heterozygote. The most frequent mutation seen in seven patients was M694V (36.8%. In MEFV(+ patients, fibrinogen, CRP and lactate dehydrogenase levels(LDH were significantly higher (p<0.05. On computed tomography, in six patients in whom US showed decompressed appendix, appendicitis was confirmed and appendectomy was performed. Conclusions: The patients with nonspecific abdominal pain should also be considered for FMF before decision of surgery. High levels of fibrinogen, CRP and LDH in addition to clinical history of similar attacks that arise strong clinical suspicion can help diagnose FMF with genetic analysis. Our results need confirmation in larger prospective studies to confirm these preliminary results. [Cukurova Med J 2014; 39(4.000: 814-821

  2. Yellow fever.

    Science.gov (United States)

    Monath, Thomas P; Vasconcelos, Pedro F C

    2015-03-01

    Yellow fever, a mosquito-borne flavivirus disease occurs in tropical areas of South America and Africa. It is a disease of major historical importance, but remains a threat to travelers to and residents of endemic areas despite the availability of an effective vaccine for nearly 70 years. An important aspect is the receptivity of many non-endemic areas to introduction and spread of yellow fever. This paper reviews the clinical aspects, pathogenesis, and epidemiology of yellow fever, with an emphasis on recent changes in the distribution and incidence of the disease. Recent knowledge about yellow fever 17D vaccine mechanism of action and safety are discussed.

  3. Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report.

    Science.gov (United States)

    Peces, Ramón; Afonso, Sara; Peces, Carlos; Nevado, Julián; Selgas, Rafael

    2017-08-31

    Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent episodes of fever and polyserositis and by the onset of reactive amyloid-associated amyloidosis. Amyloidosis due to familial Mediterranean fever can lead to end-stage renal disease, culminating in kidney transplantation for some patients. In this study, we report the clinical outcome of two brothers with familial Mediterranean fever who were the inadvertent donor and recipient, respectively, of a kidney. Subsequently, they were diagnosed with renal amyloidosis secondary to familial Mediterranean fever and were successfully treated with anakinra and colchicine. Two brothers with familial Mediterranean fever and renal amyloidosis were the inadvertent donor and recipient, respectively, of a kidney. The recipient had presented recurrent acute febrile episodes of familial Mediterranean fever, developed nephrotic syndrome secondary to amyloidosis and needed bilateral nephrectomy and chronic dialysis. His elder brother, in apparent good health, donated his left kidney to his brother. Immediately after the kidney transplantation, both the donor and recipient presented massive proteinuria, impaired renal function and elevated serum amyloid A levels. Biopsies of the brothers' kidneys showed amyloidosis. Genetic studies thereafter revealed a homozygous variant for the MEFV gene (NM_000243.2.c.2082G > A; p.M694I) in both brothers. At this point, both the donor and recipient were treated with colchicine and anakinra, resulting in improved renal function, decreased proteinuria, undetectable serum amyloid A levels and stable renal function at 62 months of follow-up and no major adverse effects. In familial Mediterranean fever, analyses of the MEFV gene should be performed in potential live kidney donors from a direct family member (either between siblings or between parents and children). In addition, genetic studies are required when consanguinity is suspected between members involved in

  4. Brain stem infarction associated with familial Mediterranean fever and central nervous system vasculitis.

    Science.gov (United States)

    Luger, Sebastian; Harter, Patrick N; Mittelbronn, Michel; Wagner, Marlies; Foerch, Christian

    2013-01-01

    Familial Mediterranean fever (FMF) is an autoinflammatory autosomal recessive disease caused by mutations of the Mediterranean fever (MEFV) gene on chromosome 16p. Clinically, it is characterized by recurrent episodes of fever and painful polyserositis. An association of FMF with systemic vasculitis, namely Henoch-Schönlein purpura, polyarteritis nodosa and Behçet's disease has been described. Neurological manifestations of FMF occur rarely and include demyelinating (MS-like) lesions, posterior reversible encephalopathy syndrome, and pseudotumour cerebri. Hitherto hardly known, we herein present a young patient with a genetically proven FMF who suffered a brain stem infarction during a typical FMF attack. After a careful diagnostic workup including cerebrospinal fluid analysis, intra-arterial angiography and leptomeningeal biopsy, a FMF-associated central nervous system vasculitis was identified as the cause of stroke. The pathophysiological background and potential therapeutic strategies are discussed.

  5. AA Amyloidosis and Atypical Familial Mediterranean Fever with Exon 2 and 3 Mutations

    Directory of Open Access Journals (Sweden)

    Junko Yabuuchi

    2017-07-01

    Full Text Available A 54-year-old Japanese man presented with recurrent abdominal pain, fever lasting >5 days, and renal failure. AA amyloidosis was proven by renal and gastric biopsy. Symptoms subsided with the administration of colchicine, but a subsequent recurrence of symptoms did not respond to colchicine. Mediterranean fever gene (MEFV analysis showed that he was heterozygous for mutations in exon 2 (E148Q/R202Q and exon 3 (P369S/R408Q, although he had none of the exon 10 mutations known to be closely related to AA amyloidosis. He did not respond to infliximab, but tocilizumab therapy was successful. The present case is a rare report of AA amyloidosis associated with familial Mediterranean fever in Japan.

  6. Canakinumab as rescue therapy in familial Mediterranean fever refractory to conventional treatment

    Directory of Open Access Journals (Sweden)

    Alpa M

    2015-04-01

    Full Text Available Mirella Alpa, Dario Roccatello Centro di Ricerche di Immunopatologia e Documentazione su Malattie Rare (CMID, Struttura Complessa Direzione Universitaria di Immunologia Clinica, Università di Torino e Ospedale G Bosco, Torino, ItalyAbstract: Familial Mediterranean fever is an autosomal recessive autoinflammatory disorder mainly affecting Mediterranean populations, which is associated with mutations of the MEFV gene that encodes pyrin. Functional studies suggest that pyrin is implicated in the maturation and secretion of interleukin-1 (IL-1. The IL-1 receptor antagonist or anti-IL-1 monoclonal antibody may therefore represent a rational approach for the treatment of the rare patients who are refractory to conventional therapy. We report the case of a young female affected by familial Mediterranean fever who proved to be resistant to colchicine and was successfully treated with canakinumab.Keyword: interleukin-1, colchicine, familial Mediterranean fever, anti-IL-1 treatment, biologic agents

  7. [A group fever: safari's fever].

    Science.gov (United States)

    Cantiniaux, S; Serratrice, J; De Roux-Serratrice, C; Disdier, P; Perez, L; Bricaire, F; Caumes, E; Mary, C; Weiller, P J

    2004-12-01

    Acute schistosomiasis, called safari's fever in Africa and Katayama fever in Japan, is an immunoallergic reaction due to transcutaneous penetration of infective cercaria. We report the collective case of seven young adults spending holidays in Mali. An eighteen years-old girl presents fever, headache, diarrhoea and abdominal pains at return from Dogon country (south of Mali). After turned down malaria and with the notion of bathing in fresh water followed by pruritus, we think to safari's fever. So we alarm all other members of the group. All can be treated to avoid chronic schistosomiasis. These observations recall that acute schistosomiasis is a real danger for tourists when bathing in fresh water in endemic areas of Africa. Education of travellers is necessary. Occurrence of safari's fever should alert physicians to prevent chronic schistosomiasis.

  8. Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks

    NARCIS (Netherlands)

    Dode, C; Hazenberg, BPC; Pecheux, C; Cattan, D; Moulin, B; Barthelemy, A; Gubler, MC; Delpech, M; Grateau, G

    Background. Among hereditary fevers characterized by recurrent attacks of fever and organ localized inflammation, familial Mediterranean fever (FMF). and tumour necrosis factor receptor superfamily 1A (TNFRSF1A) receptor associated periodic syndrome (TRAPS) are diseases with identified genes that

  9. Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome.

    Science.gov (United States)

    Ali, Nora S; Sartori-Valinotti, Julio C; Bruce, Alison J

    2016-01-01

    Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome, the most common periodic disorder of childhood, presents with the cardinal symptoms of periodic fever, aphthous stomatitis, pharyngitis, and adenitis typically before age 5. This review presents the recent literature on PFAPA and summarizes key findings in the pathogenesis, evaluation, and treatment of the disease. Theories surrounding the pathogenesis of PFAPA include a faulty innate immunologic response in conjunction with dysregulated T-cell activation. A potential genetic link is also under consideration. Mediterranean fever (MEFV) gene variants have been implicated and appear to modify disease severity. In individuals with the heterozygous variant, PFAPA episodes are milder and shorter in duration. Diagnostic criteria include the traditional clinical signs, in addition to the following biomarkers: elevated C-reactive protein in the absence of elevated procalcitonin, vitamin D, CD64, mean corpuscular volume, and other nonspecific inflammatory mediators in the absence of an infectious explanation for fever. Treatment of PFAPA includes tonsillectomy, a single dose of corticosteroids, and, most recently, interleukin 1 blockers such as anakinra, rilonacept, and canakinumab. Tonsillectomy remains the only permanent treatment modality. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Typhoid fever

    Science.gov (United States)

    ... most commonly caused due to a bacteria called Salmonella typhi ( S typhi ). Causes S typhi is spread through contaminated food, ... as food handlers. Alternative Names Enteric fever Images Salmonella typhi organism Fly Digestive system organs References Harris JB, ...

  11. Dengue fever

    Science.gov (United States)

    ... the mosquito Aedes aegypti , which is found in tropic and subtropic regions. This area includes parts of: ... encephalitis, St. Louis encephalitis, tick-borne encephalitis, Kyasanur forest disease, Alkhurma hemorrhagic fever, Zika). In: Bennett JE, ...

  12. Recurrent fevers.

    Science.gov (United States)

    Isaacs, David; Kesson, Alison; Lester-Smith, David; Chaitow, Jeffrey

    2013-03-01

    An 11-year-old girl had four episodes of fever in a year, lasting 7-10 days and associated with headache and neck stiffness. She had a long history of recurrent urticaria, usually preceding the fevers. There was also a history of vague pains in her knees and in the small joints of her hands. Her serum C-reactive protein was moderately raised at 41 g/L (normal <8). Her rheumatologist felt the association of recurrent fevers that lasted 7 or more days with headaches, arthralgia and recurrent urticaria suggested one of the periodic fever syndromes. Genetic testing confirmed she had a gene mutation consistent with one of tumour necrosis factor receptor-associated periodic syndrome.

  13. Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.

    Science.gov (United States)

    Moradian, Mike M; Sarkisian, Tamara; Amaryan, Gayane; Hayrapetyan, Hasmik; Yeghiazaryan, Anna; Davidian, Nairi; Avanesian, Nare

    2014-03-01

    In this study, we present clinical data from 16,000 familial Mediterranean fever patients. We also discuss the clinical manifestation of a subset of these patients and their potential symptom associations with other disorders. Familial Mediterranean fever patients were confirmed using Tel-Hashomer criteria and were tested for the 12 most common mutations using the familial Mediterranean fever StripAssay. A total of 100 samples were selected, and their MEFV gene exons and intron junctions were completely sequenced. We observed that in children severe phenotypes with polyserositis, erysipelas-like erythema, splenomegaly, and vasculitis are associated with high penetrance of exon 10 mutations, particularly M694V. Several forms of arthritis were associated with familial Mediterranean fever, including acute mono/oligoarthritis in the lower extremities, destructive arthritis, ankylosing spondylitis, sacroiliitis, arthritis of the hip joint, and juvenile chronic arthritis. Severe life-threatening complications, such as adhesive intestinal obstruction, renal amyloidosis, and uncommon/rare symptoms were sometimes the only form of familial Mediterranean fever manifestation. We suggest performing familial Mediterranean fever genetic testing for patients presenting with rare/uncommon symptoms also common in other disorders, to prevent misdiagnosis or delayed diagnosis. In our experience, the most effective patient management for familial Mediterranean fever was its rapid diagnosis through genetic testing, initiation of colchicine therapy, and promotion of attack prevention through counseling.

  14. Febrile seizures in children with familial Mediterranean fever: Coincidence or association?

    Science.gov (United States)

    Çomak, Elif; Tüfekçi, Özlem; Kılıçbay, Fatih; Isıyel, Emel; Sever, Ali Haydar; Aslanger, Ayça; Ekici, Barış

    2015-09-01

    Familial Mediterranean fever (FMF) is an inherited disease characterized by recurrent bouts of fever and polyserositis and caused by MEditerranean FeVer gene (MEFV) mutations. Given the febrile characteristics of the disease one would expect higher frequency of febrile seizure in this group of pediatric patients. To evaluate the frequency of febrile seizure and related factors in patients with FMF. The children with the diagnosis of FMF were enrolled in the study. Information including clinical features, type of mutation and the history of febrile seizure were all noted. A total of 97 patients, 43 (44.3%) girls with a median age of 7.93 ± 4.05 years (2-16) and a median follow-up period of 20.65 ± 24.33 months (6-135) were included in the study. The frequency of febrile seizure in children with FMF was found as 13.4%, which is higher than the general population [p = 0.04, OR: 2.9 (95% CI: 1.0-8.5)]. The allele frequency of exon 2 mutations in MEFV genes was higher in the patients with febrile seizure (p = 0.03). Frequency of FMF related clinical findings (fever, abdominal pain, arthralgia/myalgia, arthritis, chest pain and erysipelas-like erythema) was similar between the two groups. However, frequency of headache was higher in the patients with febrile seizure (p = 0.014). The frequency of febrile seizure in children with FMF was found to be higher than the general population. Although this finding may be related to high fever during FMF attacks in individuals with genetic propensity of febrile seizure, it may also be a neurologic complication of FMF. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  15. Childhood fever.

    Science.gov (United States)

    Chong, C Y; Allen, D M

    1996-02-01

    Childhood fever is a common symptom, reflective of multiple causes. As the child is often unable to express himself, the physician must rely on parents' observations and the physical examination. The majority of febrile children have non-bacterial upper respiratory tract infection and indiscriminate use of antibiotics is inappropriate, ineffective and leads to drug-resistance such as the emergence of Penicillin-resistant Streptococcus pneumoniae. In this article, we attempt to identify the possible causes of fever by a simple approach using the presence or absence of associated or localising symptoms. Infants less than 3 months constitute a unique group as the fever may be related to perinatal events and as serious bacterial infections can still occur despite unremarkable physical findings. Management of fever needs to take into account the toxicity, immune status and age of the patients as well as the source of the infection. Zealous overprescription of antipyretics needs to be avoided with attention directed to the cause of the fever, the child's capacity to cope with the illness and parental education.

  16. Generation of integration-free induced pluripotent stem cells from a patient with Familial Mediterranean Fever (FMF

    Directory of Open Access Journals (Sweden)

    Kerem Fidan

    2015-11-01

    Full Text Available Fibroblasts from a Familial Mediterranean Fever (FMF patient were reprogrammed with episomal vectors by using the Neon Transfection System for the generation of integration-free induced pluripotent stem cells (iPSCs. The resulting iPSC line was characterized to determine the expression of pluripotency markers, proper differentiation into three germ layers, the presence of normal chromosomal structures as well as the lack of genomic integration. A homozygous missense mutation in the MEFV gene (p.Met694Val, which lead to typical FMF phenotype, was shown to be present in the generated iPSC line.

  17. Generation of integration-free induced pluripotent stem cells from a patient with Familial Mediterranean Fever (FMF).

    Science.gov (United States)

    Fidan, Kerem; Kavaklıoğlu, Gülnihal; Ebrahimi, Ayyub; Özlü, Can; Ay, Nur Zeynep; Ruacan, Arzu; Gül, Ahmet; Önder, Tamer T

    2015-11-01

    Fibroblasts from a Familial Mediterranean Fever (FMF) patient were reprogrammed with episomal vectors by using the Neon Transfection System for the generation of integration-free induced pluripotent stem cells (iPSCs). The resulting iPSC line was characterized to determine the expression of pluripotency markers, proper differentiation into three germ layers, the presence of normal chromosomal structures as well as the lack of genomic integration. A homozygous missense mutation in the MEFV gene (p.Met694Val), which lead to typical FMF phenotype, was shown to be present in the generated iPSC line. Copyright © 2015 The Authors. Published by Elsevier B.V. All rights reserved.

  18. Typhoid fever

    DEFF Research Database (Denmark)

    Wain, John; Hendriksen, Rene S.; Mikoleit, Matthew L.

    2015-01-01

    Control of typhoid fever relies on clinical information, diagnosis, and an understanding for the epidemiology of the disease. Despite the breadth of work done so far, much is not known about the biology of this human-adapted bacterial pathogen and the complexity of the disease in endemic areas...... with shifting trends in enteric fever. This knowledge is crucial, both to control the disease and to manage cases. Additionally, salmonella serovars that cause human infection can change over time and location. In areas of Asia, multidrug-resistant Salmonella enterica serovar Typhi (S Typhi) has been the main...... cause of enteric fever, but now S Typhi is being displaced by infections with drug-resistant S enterica serovar Paratyphi A. New conjugate vaccines are imminent and new treatments have been promised, but the engagement of local medical and public health institutions in endemic areas is needed to allow...

  19. Rat-bite fever

    Science.gov (United States)

    Streptobacillary fever; Streptobacillosis; Haverhill fever; Epidemic arthritic erythema; Spirillary fever; Sodoku ... Rat-bite fever can be caused by 2 different bacteria, Streptobacillus moniliformis or Spirillum minus. Both of these are found in ...

  20. Kid's Guide to Fever

    Science.gov (United States)

    ... in the Operating Room? A Kid's Guide to Fever KidsHealth > For Kids > A Kid's Guide to Fever ... some lighter-weight pajamas. previous continue Fighting a Fever For almost all kids, fevers aren't a ...

  1. Dengue fever (image)

    Science.gov (United States)

    Dengue fever, or West Nile fever, is a mild viral illness transmitted by mosquitoes which causes fever, ... second exposure to the virus can result in Dengue hemorrhagic fever, a life-threatening illness.

  2. MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

    NARCIS (Netherlands)

    Stoffels, Monique; Szperl, Agata; Simon, Anna; Netea, Mihai G.; Plantinga, Theo S.; van Deuren, Marcel; Kamphuis, Sylvia; Lachmann, Helen J.; Cuppen, Edwin; Kloosterman, Wigard P.; Frenkel, Joost; van Diemen, Cleo C.; Wijmenga, Cisca; van Gijn, Marielle; van der Meer, Jos W. M.

    2014-01-01

    Objectives Autoinflammatory disorders are disorders of the innate immune system. Standard genetic testing provided no correct diagnosis in a female patient from a non-consanguineous family of British descent with a colchicine-responsive autosomal dominant periodic fever syndrome. We aimed to unravel

  3. MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

    NARCIS (Netherlands)

    Stoffels, M.; Szperl, A.; Simon, A.; Netea, M.G.; Plantinga, T.S.; Deuren, M. van; Kamphuis, S.; Lachmann, H.J.; Cuppen, E.; Kloosterman, W.P.; Frenkel, J.; Diemen, C.C. van; Wijmenga, C.; Gijn, M. van; Meer, J.W.M. van der

    2014-01-01

    OBJECTIVES: Autoinflammatory disorders are disorders of the innate immune system. Standard genetic testing provided no correct diagnosis in a female patient from a non-consanguineous family of British descent with a colchicine-responsive autosomal dominant periodic fever syndrome. We aimed to

  4. MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

    NARCIS (Netherlands)

    Stoffels, Monique; Szperl, Agata; Simon, Anna; Netea, Mihai G.; Plantinga, Theo S.; van Deuren, Marcel; Kamphuis, Sylvia; Lachmann, Helen J.; Cuppen, Edwin; Kloosterman, Wigard P.; Frenkel, Joost; van Diemen, Cleo C.; Wijmenga, Cisca; van Gijn, Marielle; van der Meer, Jos W. M.

    Objectives Autoinflammatory disorders are disorders of the innate immune system. Standard genetic testing provided no correct diagnosis in a female patient from a non-consanguineous family of British descent with a colchicine-responsive autosomal dominant periodic fever syndrome. We aimed to unravel

  5. MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

    NARCIS (Netherlands)

    Stoffels, Monique; Szperl, Agata; Simon, Anna; Netea, Mihai G; Plantinga, Theo S; van Deuren, Marcel; Kamphuis, Sylvia; Lachmann, Helen J; Cuppen, Edwin; Kloosterman, Wigard P; Frenkel, Joost; van Diemen, Cleo C; Wijmenga, Cisca; van Gijn, Marielle; van der Meer, Jos W M

    OBJECTIVES: Autoinflammatory disorders are disorders of the innate immune system. Standard genetic testing provided no correct diagnosis in a female patient from a non-consanguineous family of British descent with a colchicine-responsive autosomal dominant periodic fever syndrome. We aimed to

  6. Protracted Febrile Myalgia in a Child as the Presenting Sign of Familial Mediterranean Fever: Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    İbrahim Gökçe

    2011-06-01

    Full Text Available Protracted febrile myalgia (PFM is a rare form of vasculitic disease which is an uncommon dramatic manifestation of familial Mediterranean fever (FMF, characterized by severe crippling myalgia and high fever. We describe a 14-year-old boy who presented with fever, abdominal pain and severe myalgia in all his muscles for 5 days. The diagnosis of PFM was considered based on the presence of fever, paralyzing myalgia with normal CPK, elevated CRP and ESR. Thus, we started prednisolone treatment and his symptoms disappeared and acute-phase reactants declined rapidly. Mutational analysis of the MEFV gene demonstrated homozygote M694V mutation. Thus, he was diagnosed as PFM and FMF. In this report, we present a child with PFM as the sole feature preceding the diagnosis of FMF, and draw attention to the PFM for the diagnosis of FMF even the patient does not fulfill the criteria for the clinical diagnosis.

  7. Familial Mediterranean fever (FMF) and renal AA amyloidosis--phenotype-genotype correlation, treatment and prognosis.

    Science.gov (United States)

    Ben-Chetrit, Eldad

    2003-01-01

    Familial Mediterranean fever (FMF) is an autosomal recessive disease, which primarily affects the population surrounding the Mediterranean basin. It is characterized by recurrent attacks of fever and peritonitis, pleuritis, arthritis or erysipelas-like erythema. Amyloidosis, causing renal failure, is one of the most severe complications of the disease. The gene associated with FMF (MEFV) has been recently isolated. Phenotype-genotype correlation studies revealed that amyloidosis was more common in FMF patients originating from North-Africa who were homozygous for the M694V mutation. Such a correlation was not found in Turkish patients. The risk of amyloidosis is increased in male FMF patients and in patients bearing polymorphism a/a in the SAA1 gene. Colchicine is the chosen drug for the treatment of FMF and can prevent amyloidosis.

  8. Acutely developed elbow arthritis in a patient with Brucellosis: Familial Mediterranean Fever

    Directory of Open Access Journals (Sweden)

    Erkan Yula

    2011-12-01

    Full Text Available Familial Mediterranean Fever (FMF is an autosomal recessivedisorder that is prevalent in non-Ashkenazi Jews,Armenians, Turks and Arabs. The characteristic featuresof FMF is recurrent self-limited attacks of fever, polyserositis(synovitis, peritonitis, and pleuritis, and secondaryamyloidosis. Genetic studies have shown that the genefor FMF is located on chromosome 16p is designatedMEFV. The diagnosis of FMF is based on a clinical historyof typical acute attacks, ethnic background, and familyhistory.Brucellosis is a systemic infectious disease caused bygram-negative bacillus. The prevalence of the disease ishigher in developing countries. It is frequently transmittedto humans via consumption of infected unpasteurizeddairy products and infected by direct contact with infectedanimals.In this article, we discussed a patient who was in our followup with diagnosis of brucellosis, after sudden effusionof elbow; we diagnosed the case FMF together with brucellosis.J Clin Exp Invest 2011; 2 (4: 437-440

  9. Scarlet Fever

    Centers for Disease Control (CDC) Podcasts

    2011-06-09

    Katherine Fleming-Dutra, pediatrician, discusses scarlet fever, its cause, how to treat it, and how to prevent its spread.  Created: 6/9/2011 by National Center for Immunization and Respiratory Diseases (NCIRD).   Date Released: 6/9/2011.

  10. Yellow fever

    Directory of Open Access Journals (Sweden)

    Prata Aluízio

    2000-01-01

    Full Text Available With the infestation by Aedes aegypti, urban yellow fever might already exist. This did not occur because of either the lacking of a sufficient contact between the diseased individual and the A. aegypti or perhaps because this, after sixty years without transmitting the virus, needs an adaptation phase to infecting again.

  11. Q fever

    Science.gov (United States)

    ... Coxiella burnetii . These bacteria can infect: Sheep Goats Cattle Dogs Cats Birds Rodents Ticks Infected animals shed ... The main treatment for Q fever is antibiotics. For early-stage Q ... If you have the infection for more than 6 months, it is called ...

  12. [Three cases with familial Mediterranean fever misdiagnosed as juvenile idiopathic arthritis].

    Science.gov (United States)

    Li, J; Zhang, Y; Wang, W; Zhong, L Q; Song, H M

    2017-05-04

    Objective: To explore the key points of diagnosis and treatment of familial Mediterranean fever(FMF). Method: The clinical data of 3 cases with FMF misdiagnosed as Juvenile idiopathic arthritis(JIA)seen from January 2014 to June 2016 in Peking Union Medical College Hospital were retrospectively collected. The clinical manifestations, gene mutation characteristics, treatment and prognosis were also evaluated. Result: Two cases were male and 1 was female. The mean age of onset was 17 months (3 months to 36 months), while the average age of diagnosis was 6 years and 8 months (24 months to 11 years). All the 3 cases presented with periodic fever, red rash and arthritis.Two of them suffered from anemia, 2 of them showed lymphadenopathy, and 1 of them presented with hepatosplenomegaly. All of the 3 cases were diagnosed as JIA by excluding infectious diseases and neoplastic diseases and respondiug poorly to anti-infection treatment, but they benefitted little from glucocorticoids and a variety of immunosuppressive therapy. The mutations of MEFV gene were found in 3 cases by gene detection, and all of them were complex heterozygous mutations. Four reported pathogenic mutations were found: R202Q, E148Q, L110P, P369S. All the 3 cases are currently receiving oral colchicine (in accordance with the initial dose of children under the age of 5 recommended ≤ 0.5 mg/d, 5 to 10 years old children 0.5-1.0 mg/d, 10 years old children and older children 1.0-1.5 mg / d) , and the symptoms were significantly improved. Conclusion: The familial Mediterranean fever can be characterized by repeated remittent fever, red rash, arthritis, and is easy to be confused with JIA in clinical manifestation.In this paper, 3 cases were diagnosed as complex heterozygous MEFV gene mutation by gene analysis.During the 6 months follow-up, all of the 3 patients responded well to colchicine.

  13. [Milk fever].

    Science.gov (United States)

    Dumont, M

    1989-05-01

    Infectious complications following delivery were, in the past, attributed to "milk fever": these were milk congestion, milk deposits, rancid milk, etc., that were held responsible. The milk was reabsorbed into the blood of the patient and settled in the peritoneum ("milk peritonitis"), in the broad ligaments (pelvic abscess), in the thighs (phlebitis) and also in the breasts (breast abscess). This belief, originated by Aristotle, was accepted by excellent authors like Andre Levret (1703-1780), one of the most famous French obstetricians and Nicolas Puzos, at the same time. More recently, authors alluded to it and blamed "milk fever" for being at the origin of dramatic pictures which they described in their novels, like Victor Hugo and Guy de Maupassant, for instance.

  14. Differential Expression of miR-4520a Associated With Pyrin Mutations in Familial Mediterranean Fever (FMF).

    Science.gov (United States)

    Latsoudis, Helen; Mashreghi, Mir-Farzin; Grün, Joachim R; Chang, Hyun-Dong; Stuhlmüller, Bruno; Repa, Argyro; Gergiannaki, Irini; Kabouraki, Eleni; Vlachos, George S; Häupl, Thomas; Radbruch, Andreas; Sidiropoulos, Prodromos; Doukoumetzidis, Kimon; Kardassis, Dimitris; Niewold, Timothy B; Boumpas, Dimitrios T; Goulielmos, George N

    2017-06-01

    Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent, acute, and self-limiting attacks of fever. Mutations in MEFV gene encoding pyrin account for FMF, but the high number of heterozygote patients with typical symptoms of the disease has driven a number of alternative aetiopathogenic hypotheses. The MEFV gene was knocked down in human myelomonocytic cells that express endogenous pyrin to identify deregulated microRNAs (miRNAs). Microarray analyses revealed 29 significantly differentially expressed miRNAs implicated in pathways associated with cellular integrity and survival. Implementation of in silico gene network prediction algorithms and bioinformatics analyses showed that miR-4520a is predicted to target genes implicated in autophagy through regulation of RHEB/mTOR signaling. Differential expression levels of RHEB were confirmed by luciferase reporter gene assays providing further evidence that is directly targeted by miR-4520a. Although the relative expression levels of miR-4520a were variable among FMF patients, the statistical expression of miR-4520a was different between FMF mutation carriers and controls (P = 0.0061), indicating an association between miR-4520a expression and MEFV mutations. Comparison between FMF patients bearing the M694V mutation, associated with severe disease, and healthy controls showed a significant increase in miR-4520a expression levels (P = 0.00545). These data suggest that RHEB, the main activator of mTOR signaling, is a valid target of miR-4520a with the relative expression levels of the latter being significantly deregulated in FMF patients and highly dependent on the presence of pyrin mutations, especially of the M694V type. These results suggest a role of deregulated autophagy in the pathogenesis of FMF. J. Cell. Physiol. 232: 1326-1336, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  15. Is colchicine an effective treatment in periodic fever, aphtous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome?

    Science.gov (United States)

    Dusser, Perrine; Hentgen, Véronique; Neven, Bénédicte; Koné-Paut, Isabelle

    2016-07-01

    PFAPA syndrome is the most frequent periodic fever syndrome in non-Mediterranean patients. The pathogenesis is unclear and the treatment is purely symptomatic and not standardized. The aim of this study was to assess colchicine's efficacy as prophylactic treatment in PFAPA syndrome and to identify factors able to predict response to treatment. We performed a retrospective, multicentric, cohort study of PFAPA patients under colchicine prophylaxis. PFAPA diagnosis was established according to Feder's criteria. Medical records were reviewed and analyzed for demographic, clinical and laboratory data. We distinguished one responder's group, defined as patients who had no more or twice fewer crises under colchicine and another one of non-responders. Subgroup analyses were performed using non-parametric Mann-Whitney test for quantitative data and calculating odds ratio and confidence interval for qualitative data. Difference between the two groups was considered significant for P-value<0.05 or a confidence interval different from 1. Twenty children, 65% of whom were boys, were analyzed. Their mean age at disease onset was 2.3±1.5 years. Among the nine responder patients, five were MEFV (71%) heterozygotes: M694V mutation in four and V726A once. Heterozygous MEFV gene mutation tended to be more frequent in the responders group (71% versus 43%; OR=0.3 [0.03-2.7]). Non-responder patients had more chronic fatigue (82% versus 33%; OR=9 [1,14-71]) and had more oral aphtosis (82% versus 11%; OR=36 [1,7-141]) than the responders ones. Although not significant, colchicine treatment appeared more effective in patients with less complete PFAPA phenotype and MEFV heterozygosity. Copyright © 2016 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

  16. Typhoid fever.

    Science.gov (United States)

    Wain, John; Hendriksen, Rene S; Mikoleit, Matthew L; Keddy, Karen H; Ochiai, R Leon

    2015-03-21

    Control of typhoid fever relies on clinical information, diagnosis, and an understanding for the epidemiology of the disease. Despite the breadth of work done so far, much is not known about the biology of this human-adapted bacterial pathogen and the complexity of the disease in endemic areas, especially those in Africa. The main barriers to control are vaccines that are not immunogenic in very young children and the development of multidrug resistance, which threatens efficacy of antimicrobial chemotherapy. Clinicians, microbiologists, and epidemiologists worldwide need to be familiar with shifting trends in enteric fever. This knowledge is crucial, both to control the disease and to manage cases. Additionally, salmonella serovars that cause human infection can change over time and location. In areas of Asia, multidrug-resistant Salmonella enterica serovar Typhi (S Typhi) has been the main cause of enteric fever, but now S Typhi is being displaced by infections with drug-resistant S enterica serovar Paratyphi A. New conjugate vaccines are imminent and new treatments have been promised, but the engagement of local medical and public health institutions in endemic areas is needed to allow surveillance and to implement control measures. Copyright © 2015 Elsevier Ltd. All rights reserved.

  17. Mutation screening of familial Mediterranean fever in the Azeri Turkish population: Genotype-phenotype correlation and the clinical profile variability

    Directory of Open Access Journals (Sweden)

    Gharesouran Jalal

    2014-01-01

    Full Text Available Familial Mediterranean fever is known as a most frequent hereditary autoin-Xammatory among the autoinflammatory syndromes characterized by fever, arthritis and serosal inflammation. Clinically, the foremost severe symptom of the disease is amyloidosis, which may cause to renal failure. MEFV renal failure consists of ten exons and conservative mutations clustered in exon ten (M694V, V726A, M680I, M694I and exon two (E148Q are considered more common mutations within this coding region and that they are detected with a distinct frequency changes in line with ethnicity. The aim of this study was to research the spectrum of mutations in Azeri Turkish population. We evaluated the molecular test results of 82 patients and their parents from eighty families identified as having FMF clinical symptoms referred to Molecular Genetics Laboratory of the Department of Medical Genetics. Patients were referred by their physicians for MEFV mutation detection. The most frequent mutations were M694V respectively followed by M680I (G/C, V726A, M694I and E148Q mutations. A phenotypic variability was also ascertained between patients with different mutations and it must be considered within the daily management of FMF patients.

  18. Demgue Fever

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    登革热的病名源于西班牙语,是形容患者由于发烧、关节疼痛导致走路时步履蹒跚、步态造作。研究者根据其症状,称其为"关节热"或"碎骨热"。1869年,英国伦敦皇家内科学会正式将其命名为"登革热"(dengue fever,DF)。

  19. [Typhoid fever].

    Science.gov (United States)

    Marchou, B

    1996-01-15

    Endemic in regions with poor hygienic conditions, Enteric fevers are imported in France by returning travellers. They are caused by Salmonella strains, mainly S. Typhi, transmitted via fecal-oral route. Salmonella reach the blood stream after proliferating in mesenteric lymph nodes. At an initial stage blood and bone marrow cultures, later on Widal-Felix serology permit diagnosis. Antibiotics have rendered death exceptional. Quinolones and ceftriaxone allow treatments shorter than 10 days. Immunization (Typhim Vi) and improvement of hygienic standards are the cornerstone of prevention.

  20. Allergies and Hay Fever

    Science.gov (United States)

    ... an ENT Doctor Near You Allergies and Hay Fever Allergies and Hay Fever Patient Health Information News media interested in covering ... suffer from nasal allergies, commonly known as hay fever. An ear, nose, and throat specialist can help ...

  1. Rocky Mountain Spotted Fever

    Science.gov (United States)

    ... facebook share with twitter share with linkedin Rocky Mountain Spotted Fever Rocky Mountain spotted fever is a ... New Mexico. Why Is the Study of Rocky Mountain Spotted Fever a Priority for NIAID? Tickborne diseases ...

  2. Viral Hemorrhagic Fevers

    Science.gov (United States)

    ... 4 viruses that cause two other hemorrhagic fevers, dengue hemorrhagic fever and yellow fever. Virus Families Information ... 2014 Content source: Centers for Disease Control and Prevention National Center for Emerging and Zoonotic Infectious Diseases ( ...

  3. Dengue Fever Testing

    Science.gov (United States)

    ... AACC products and services. Advertising & Sponsorship: Policy | Opportunities Dengue Fever Testing Share this page: Was this page helpful? Also known as: Dengue Fever Antibodies; Dengue Fever Virus Formal name: Dengue ...

  4. Guidelines for the management and treatment of periodic fever syndromes familial Mediterranean fever.

    Science.gov (United States)

    Terreri, Maria Teresa R A; Bernardo, Wanderley Marques; Len, Claudio Arnaldo; da Silva, Clovis Artur Almeida; de Magalhães, Cristina Medeiros Ribeiro; Sacchetti, Silvana B; Ferriani, Virgínia Paes Leme; Piotto, Daniela Gerent Petry; de Souza Cavalcanti, André; de Moraes, Ana Júlia Pantoja; Sztajnbok, Flavio Roberto; de Oliveira, Sheila Knupp Feitosa; Campos, Lucia Maria Arruda; Bandeira, Marcia; Santos, Flávia Patricia Sena Teixeira; Magalhães, Claudia Saad

    2016-01-01

    To establish guidelines based on scientific evidence for the management of familial Mediterranean fever. The Guideline was prepared from 5 clinical questions that were structured through PICO (Patient, Intervention or indicator, Comparison and Outcome), to search key primary scientific information databases. After defining the potential studies to support the recommendations, these were graduated considering their strength of evidence and grade of recommendation. 10,341 articles were retrieved and evaluated by title and abstract; from these, 46 articles were selected to support the recommendations. 1. The diagnosis of FMF is based on clinical manifestations, characterized by recurrent febrile episodes associated with abdominal pain, chest or arthritis of large joints. 2. FMF is a genetic disease presenting an autosomal recessive trait, caused by mutation in the MEFV gene. 3. Laboratory tests are not specific, demonstrating high serum levels of inflammatory proteins in the acute phase of the disease, but also often showing high levels even between attacks. SAA serum levels may be especially useful in monitoring the effectiveness of treatment. 4. The therapy of choice is colchicine; this drug has proven its effectiveness in preventing acute inflammatory episodes and progression toward amyloidosis in adults. 5. Based on the available information, the use of biological drugs appears to be an alternative for patients with FMF who do not respond or are intolerant to therapy with colchicine. Copyright © 2015 Elsevier Editora Ltda. All rights reserved.

  5. Canakinumab for the treatment of familial Mediterranean fever.

    Science.gov (United States)

    Ozdogan, Huri; Ugurlu, Serdal

    2017-05-01

    Familial Mediterranean fever (FMF) is the most frequent of all hereditary autoinflammatory syndromes. It is characterized by recurrent attacks of fever and serositis. If not treated it may be complicated with AA amyloidosis. It is caused by mutations in the MEFV gene that encodes pyrin which is involved in the regulation of IL-1β. The mainstay of treatment is colchicine, however a subset of patients requires an alternative treatment either due to inadequate response or intolerance. The accumulating data indicates that anti IL-1 drugs are effective in treating colchicine resistant FMF cases and improving their quality of life. Areas covered: This review focuses on canakinumab, a fully human anti IL-1β antibody, treatment in FMF. The data obtained from case reports, case series, two Phase II studies and an ongoing double-blind, randomized, placebo controlled Phase III trial are analyzed. Efficacy and safety profiles of canakinumab are discussed. Expert commentary: Canakinumab became the first approved therapy by the Food and Drug Administration for FMF very recently, which highlights its importance as the alternative treatment in FMF.

  6. Usefulness of Small Intestinal Endoscopy in a Case of Adult-onset Familial Mediterranean Fever Associated with Jejunoileitis.

    Science.gov (United States)

    Kitade, Takashi; Horiki, Noriyuki; Katsurahara, Masaki; Totoki, Toshiaki; Harada, Tetsuro; Tano, Shunsuke; Yamada, Reiko; Hamada, Yasuhiko; Inoue, Hiroyuki; Tanaka, Kyosuke; Gabazza, Esteban C; Hayashi, Hiroyuki; Tanaka, Masanori; Takei, Yoshiyuki

    2015-01-01

    A 66-year-old Japanese man consulted our institution due to paroxysmal and repetitive bouts of fever and abdominal pain that had persisted for more than one week. Capsule and double-balloon endoscopy (DBE) showed petal-shaped mucosal redness with white hemming in the jejunum and ileum, and histopathology of the biopsy specimens revealed villous atrophy and cryptitis with extensive severe neutrophil infiltration. A genetic examination disclosed compound heterozygous MEFV mutations (E84K, P369S), and familial Mediterranean fever was diagnosed. Treatment with colchicine and infliximab was very effective in inducing the complete disappearance of symptoms and normalization of the endoscopic findings. To the best of our knowledge, this is the first report to describe the findings of small intestinal endoscopic images obtained using capsule and DBE.

  7. Fever: First Aid

    Science.gov (United States)

    First aid Fever: First aid Fever: First aid By Mayo Clinic Staff A fever is a rise in body temperature. It's usually a sign of infection. The ... 2 C) or higher Should I treat a fever? When you or your child is sick, the ...

  8. Fever during anaesthesia.

    Science.gov (United States)

    Negishi, Chiharu; Lenhardt, Rainer

    2003-12-01

    Fever occurs when pyrogenic stimulation activates thermal control centres. Fever is common during the perioperative period, but rare during anaesthesia. Although only a limited number of studies are available to explain how anaesthesia affects fever, general anaesthesia seems to inhibit fever by decreasing the thermoregulatory-response thresholds to cold. Opioids also inhibit fever; however, the effect is slightly less than that of general anaesthesia. In contrast, epidural anaesthesia does not affect fever. This suggests that hyperthermia, which is often associated with epidural infusions during labour or in the post-operative period, may be a true fever caused by inflammatory activation. Accordingly, this fever might be diminished in patients who receive opioids for pain treatment. Post-operative fever is a normal thermoregulatory response usually of non-infectious aetiology. Fever may be important in the host defence mechanisms and should not be routinely treated lest the associated risks exceed the benefits.

  9. Myositis in a patient with familial Mediterranean fever and spondyloarthritis successfully treated with anakinra.

    Science.gov (United States)

    Estublier, Charline; Stankovic Stojanovic, Katia; Bergerot, Jean-François; Broussolle, Christiane; Sève, Pascal

    2013-12-01

    Familial Mediterranean fever is an autosomal-recessive autoinflammatory disorder more commonly observed in Mediterranean populations and characterized by recurrent episodes of fever, serositis, myalgia and arthritis. There is rarely any association with spondyloarthritis. The most important long-term complication is progressive systemic type AA amyloidosis. Treatment with colchicine is effective in reducing the frequency of attacks and prevents the development of amyloidosis. However, 5% of cases are considered resistant to colchicine. We here describe the case of a 39-year-old man, with a history of arthritis, arthralgias, and sacroiliitis in the course of a familial Mediterranean fever. He is homozygous for the M694I mutation in the MEFV gene. He subsequently developed myositis of the right quadriceps muscle confirmed by magnetic resonance imaging, electromyography and histology. He had frequent and severe arthralgias, despite colchicine, then etanercept and adalimumab, impairing his quality of life. The patient was successfully treated with the IL-1 receptor antagonist anakinra with a dramatic improvement of muscular and articular symptoms. To our knowledge, our patient is the first patient with coexisting FMF, spondyloarthritis and myositis responding to anakinra treatment. Moreover this is the second case in the literature of myositis associated with familial Mediterranean fever. Copyright © 2013 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

  10. Rheumatic Fever.

    Science.gov (United States)

    Visvanathan; Manjarez; Zabriskie

    1999-10-01

    There have been numerous reports stating that treatment of acute rheumatic fever with either aspirin or corticosteroids does not alter the long-term outcome of rheumatic heart disease. Yet, it should be emphasized that most of these studies were carried out with the first generic corticosteroids before the advent of the more active and more potent corticosteroid agents. In spite of this caveat, there is no question that all the clinical and laboratory parameters of inflammation (erythrocyte sedimentation rate, C-reactive protein) return to normal much more rapidly with corticosteroids than with aspirin alone. It is therefore our belief that steroids should be used when clinical and laboratory evidence of carditis exists, and aspirin should be reserved for cases of acute rheumatic arthritis with no evidence of carditis. The incidence of long-term valvular disease in active carditis may be decreased with steroid therapy. For example, the number of valve replacements differs markedly in centers that do use steroids and in those that do not. In Capetown, South Africa, where steroids are routinely used for carditis, valve replacement is quite rare. In contrast, in Johannesburg, where steroids are rarely used, the rate of valve replacement is quite high. The racial backgrounds of both groups of patients are similar, thus eliminating the question of racial differences. Concerning secondary prophylaxis, there is also controversy concerning the best second-line therapy. It is now well known that monthly intramuscular injections of benzathine penicillin are really effective for only 20 days. Thus, there is a window in which penicillin coverage is not adequate. To circumvent this problem, some investigators give benzathine penicillin every 3 weeks. These injections are quite painful, however, and it has been our "rule" that compliance with this treatment is inversely proportional to the ratio of the size of the child to the mother. In our own experience over 30 years with the

  11. Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations.

    Science.gov (United States)

    Kishida, Dai; Nakamura, Akinori; Yazaki, Masahide; Tsuchiya-Suzuki, Ayako; Matsuda, Masayuki; Ikeda, Shu-ichi

    2014-09-27

    Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent self-limiting fever and serositis that mainly affects Mediterranean populations. Many patients with FMF have been reported in Japan due to increasing recognition of this condition and the availability of genetic analysis for the gene responsible, MEFV. The present study was performed to elucidate the clinical characteristics of Japanese FMF patients and to examine the precise genotype-phenotype correlation in a large cohort of Japanese FMF patients. We analyzed the MEFV genotypes and clinical manifestations in 116 patients clinically diagnosed as having FMF and with at least one mutation. The most frequent mutation in Japanese patients was E148Q (40.2%), followed by M694I (21.0%), L110P (18.8%), P369S (5.4%), and R408Q (5.4%). In contrast, common mutations seen in Mediterranean patients, such as M694V, V726A, and M680I, were not detected in this population. The clinical features with M694I were associated with more severe clinical course compared to those seen with E148Q. P369S/R408Q showed variable phenotypes with regard to both clinical manifestations and severity. Patients with M694I showed a very favorable response to colchicine therapy, while those with P369S and R408Q did not. Clinical features and efficacy of treatment in Japanese FMF patients vary widely according to the specific MEFV gene mutation, and therefore genetic analysis should be performed for diagnosis in cases of Japanese FMF.

  12. [Rheumatic fever].

    Science.gov (United States)

    Cherkashin, D V; Kumchin, A N; Shchulenin, S N; Svistov, A S

    2013-01-01

    This lecture-style paper highlights all major problems pertinent to rheumatic fever Definition of acute RF and chronic rheumatic heart disease is proposed and desirability of the use of these terms in clinical practice is explained. Present-day epidemiology of RF is described with reference to marked differences in its prevalence in developed and developing countries. Modern classification of acute RF is described as adopted by the Russian Association of Rheumatologists and recommended for the use in Russian medical facilities. Discussion of etiological issues is focused on such virulence factors as beta-hemolytic streptococcus A and genetic predisposition confirming hereditary nature of RE Its clinical features are described along with laboratory and instrumental methods applied for its diagnostics. Large and small diagnostic criteria of RF are considered. Special attention is given to the treatment of RF and its complications (antibiotic, pathogenetic, and drug therapy). Its primary and secondary prophylaxis is discussed in detail, preparations for the purpose are listed (with doses and duration of application). In conclusion, criteria for the efficacy of therapy are presented along with indications for hospitalization and emergency treatment.

  13. Familial Mediterranean fever in two Bedouin families: mutation analysis and disease severity.

    Science.gov (United States)

    Press, J; Shinar, Y; Langevitz, P; Livneh, A; Pras, M; Buskila, D

    2000-06-05

    Familial Mediterranean fever (FMF) is an autosomal recessive disease prevalent among non-Ashkenazi Jews, Armenians, Arabs, and Turks. The Bedouin are nomad Arab tribes residing in desert margins of the Middle East and Arabia. FMF is quite rare in Bedouins, and here we report on two Bedouin families from southern Israel suffering from this disorder. The MEFV mutations found in the Bedouin patients M694I, V726A, and E148Q are consistent with their Arab origin. The disease severity score showed a mild to moderate severity disease in six patients. The Bedouins, leading a unique nomadic life, may prove instrumental in unraveling the role of environmental factors in the course and severity of FMF.

  14. Familial Mediterranean Fever in Iran: A Report from FMF Registration Center

    Directory of Open Access Journals (Sweden)

    Farhad Salehzadeh

    2015-01-01

    Full Text Available 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.

  15. Small bowel mucosal damage in familial Mediterranean fever: results of capsule endoscopy screening.

    Science.gov (United States)

    Demir, Abdurrahman; Akyüz, Filiz; Göktürk, Suut; Evirgen, Sami; Akyüz, Umit; Örmeci, Aslı; Soyer, Özlem; Karaca, Cetin; Demir, Kadir; Gundogdu, Gökcen; Güllüoğlu, Mine; Erer, Burak; Kamalı, Sevil; Kaymakoglu, Sabahattin; Besisik, Fatih; Gül, Ahmet

    2014-12-01

    Familial Mediterranean fever (FMF) is the most common form of autoinflammatory diseases. We aimed to evaluate the small bowel mucosa by capsule endoscopy (CE) in FMF patients for investigation of other possible causes of abdominal pain. The study group consisted of 41 patients with FMF. A standard questionnaire was used to record the gastrointestinal symptoms, other clinical findings, Mediterranean fever gene (MEFV) mutations, and history of medications including non-steroidal anti-inflammatory drugs (NSAIDs). Gastroscopy, colonoscopy and small bowel CE were performed in all patients, and biopsies were taken from terminal ileum and duodenum. The mean age of the patients was 34 ± 11 years, 63% of them were female, and 76.5% of them were carrying MEFV exon 10 mutations. Only one patient used NSAIDs in addition to colchicine. In endoscopic investigations, gastric erosion was detected in only one patient, and no significant findings were detected in colonoscopy. CE showed small bowel mucosal defects in 44% (erosions in 26.8%, ulcer in 17.1%) and edema in 29.3% of the patients. Most (64%) of the ulcer and erosions were localized to jejunum, and only 24% were in ileum. Mitotic changes as an indirect finding of colchicine toxicity were not different from the changes observed in samples of independent group of patients with irritable bowel syndrome. Mucosal defect was observed in half of the FMF patients, which may be associated with underlying inflammation or chronic colchicine exposure. Detection of nonspecific chronic inflammation without mitotic changes supports that mucosal defects may be associated with the autoinflammatory process.

  16. Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management

    Science.gov (United States)

    Özen, Seza; Batu, Ezgi Deniz; Demir, Selcan

    2017-01-01

    Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease (AID) affecting mainly the ethnic groups originating from Mediterranean basin. The disease is characterized by self-limited inflammatory attacks of fever and polyserositis along with elevated acute phase reactants. FMF is inherited autosomal recessively; however, a significant proportion of heterozygotes also express the phenotype. FMF is caused by mutations in the MEFV gene coding for pyrin, which is a component of inflammasome functioning in inflammatory response and production of interleukin-1β (IL-1β). Recent studies have shown that pyrin recognizes bacterial modifications in Rho GTPases, which results in inflammasome activation and increase in IL-1β. Pyrin does not directly recognize Rho modification but probably affected by Rho effector kinase, which is a downstream event in the actin cytoskeleton pathway. Recently, an international group of experts has published the recommendations for the management of FMF. Colchicine is the mainstay of FMF treatment, and its regular use prevents attacks and controls subclinical inflammation in the majority of patients. Furthermore, it decreases the long-term risk of amyloidosis. However, a minority of FMF patients fail to response or tolerate colchicine treatment. Anti-interleukin-1 drugs could be considered in these patients. One should keep in mind the possibility of non-compliance in colchicine-non-responders. Although FMF is a relatively well-described AID and almost 20 years has passed since the discovery of the MEFV gene, there are still a number of unsolved problems about it such as the exact mechanism of the disease, symptomatic heterozygotes and their treatment, and the optimal management of colchicine resistance. PMID:28386255

  17. Familial Mediterranean Fever in Iran: A Report from FMF Registration Center

    Science.gov (United States)

    Salehzadeh, Farhad

    2015-01-01

    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. PMID:26413094

  18. A survey of resistance to colchicine treatment for French patients with familial Mediterranean fever.

    Science.gov (United States)

    Corsia, Alice; Georgin-Lavialle, Sophie; Hentgen, Véronique; Hachulla, Eric; Grateau, Gilles; Faye, Albert; Quartier, Pierre; Rossi-Semerano, Linda; Koné-Paut, Isabelle

    2017-03-16

    Colchicine is the standard treatment for familial Mediterranean fever (FMF), preventing attacks and inflammatory complications. True resistance is rare and yet not clearly defined. We evaluated physicians' definition of colchicine resistance and report how they manage it. We recruited patients with a clinical diagnosis of FMF, one exon-10 Mediterranean fever (MEFV) gene mutation and considered resistant to colchicine, via networks of expert physicians. Clinical, biological characteristics and information about colchicine treatment (dose adjustment, compliance) were collected. The severity of FMF was assessed by the Tel Hashomer criteria. We included 51 patients, most females (55%), mean age 34 ± 23.1 years years (range 4.7-86.3). Overall, 58% (27/47) patients had homozygous M694 MEFV gene mutations. Seventeen of 42 patients (40%) declared full adherence to colchicine treatment, greater for children (48%) than adults (22%). Physicians considered colchicine resistance with > 6 attacks/year (n = 21/51, 42%), > 4 attacks in the last 6 months (n = 13/51, 26%), persistent inflammation (n = 23/51, 45%), renal amyloidosis in (n = 6/28, 22%) of adult patients and intolerance to an increase in colchicine dose (n = 10/51, 19%), and other reasons (n = 13/51, 23%), including chronic arthralgia (n = 6/51, 12%). Interleukin 1-targeting drugs represented the only alternative treatments in addition to daily colchicine. Resistance to colchicine is rare (treatment is a key component of resistance.

  19. Familial Mediterranean Fever in Iran: A Report from FMF Registration Center.

    Science.gov (United States)

    Salehzadeh, Farhad

    2015-01-01

    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.

  20. Overlap syndrome between Familial Mediterranean fever and tumor necrosis factor receptor-associated periodic syndrome in a lupus patient.

    Science.gov (United States)

    Nonaka, Fumiaki; Migita, Kiyoshi; Iwasaki, Keisuke; Shimizu, Toshimasa; Kawakami, Atsushi; Yasunami, Michio; Eguchi, Katsumi

    2014-06-01

    Autoinflammatory diseases represent an expanding spectrum of genetic and non-genetic inflammatory diseases characterized by recurrent episodes of fever and systemic inflammation, affecting joints, skin and serosal surfaces. Familial Mediterranean fever (FMF) is the most common autosomal recessive hereditary autoinflammatory disease. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant hereditary autoinflammatory disease. They share some clinical manifestations such as a periodic fever and skin rash. We present here the association of FMF with TRAPS in a systemic lupus erythematosus (SLE) patient. A 54-year-old SLE patient with recurrent attacks of fever, arthritis, and skin rashes was referred to our hospital. She had been diagnosed with lupus nephritis at 19 years old. Her lupus nephritis was controlled by steroid treatments; however, since childhood she has suffered from recurrent episodes of periodic fever, abdominal pain, arthritis, and erythematous skin rashes. An initial diagnosis of FMF was suspected based on the genetic analysis, showing the compound heterozygous L110P/E148Q mutations in the MEFV gene that is responsible for FMF. Her symptoms responded to colchicine, but the febrile attacks were not completely resolved. Therefore, genetic testing for TRAPS was performed. The results revealed a heterozygous T61I mutation in the TNFRSF1A gene that encodes tumor necrosis factor-α receptor and is responsible for TRAPS. The patient was diagnosed with overlapping FMF and TRAPS, in addition to SLE. This is the first report of SLE associated with both FMF and TRAPS.

  1. Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.

    Science.gov (United States)

    Medlej-Hashim, Myrna; Serre, Jean-Louis; Corbani, Sandra; Saab, Odile; Jalkh, Nadine; Delague, Valérie; Chouery, Eliane; Salem, Nabiha; Loiselet, Jacques; Lefranc, Gérard; Mégarbané, André

    2005-01-01

    Familial Mediterranean fever (FMF) is an autosomal recessive disease mostly frequent in Mediterranean populations. Over 50 mutations have been identified in the gene responsible for the disease, MEFV. The present study reports the frequencies of MEFV mutations in 558 Lebanese and 55 Jordanian FMF patients and points out the severity of the M694V frequently observed mutation among these patients. Three novel mutations, T177I, S108R and E474K were also identified in the Lebanese group. An excess of homozygotes and a deficit of heterozygotes were observed in both samples when compared to the expected number of observed genotypes under the Hardy-Weinberg hypothesis. Homozygotes for M694V and M694I were still in excess in the Lebanese group of patients, even after consanguinous homozygotes were removed, or population structure was considered. This excess is therefore neither due to consanguinity nor to subgroups in the Lebanese population, but rather to more remote consanguinity or to a selection bias favoring the census of these genotypes. The fact that FMF female patients were less censed than male patients may be due to the greater resistance of females to pain and to the possibility of confusing abdominal and gynecological pain. The phenotypic heterogeneity of the FMF could then originate both from genetic causes like allelic heterogeneity or modulating genes, and cultural background facing the physiological consequences of genotypes at risk.

  2. Familial Mediterranean fever

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000363.htm Familial Mediterranean fever To use the sharing features on this page, please enable JavaScript. Familial Mediterranean fever (FMF) is a rare disorder passed down through ...

  3. Fever due to levamisole

    Directory of Open Access Journals (Sweden)

    Gupta R

    2003-05-01

    Full Text Available Fever is rarely caused by levamisole. We report a 26-year-old woman who repeatedly developed fever 4-12 hrs after taking levamisole. The association was confirmed by repeated provocation tests.

  4. Rocky Mountain spotted fever

    Science.gov (United States)

    ... Mountain spotted fever is caused by the bacteria Rickettsia rickettsii (R. Rickettsii) , which is carried by ticks. ... Saunders; 2014:chap 212. Walker DH, Blaton LS. Rickettsia rickettsii and other spotted fever group rickettsiae (Rocky ...

  5. Q fever in Greenland

    DEFF Research Database (Denmark)

    Koch, Anders; Svendsen, Claus Bo; Christensen, Jens Jorgen

    2010-01-01

    We report a patient with Q fever endocarditis in a settlement in eastern Greenland (Isortoq, Ammassalik area). Likely animal sources include sled dogs and seals. Q fever may be underdiagnosed in Arctic areas but may also represent an emerging infection.......We report a patient with Q fever endocarditis in a settlement in eastern Greenland (Isortoq, Ammassalik area). Likely animal sources include sled dogs and seals. Q fever may be underdiagnosed in Arctic areas but may also represent an emerging infection....

  6. Q fever in Greenland

    DEFF Research Database (Denmark)

    Koch, Anders; Svendsen, Claus Bo; Christensen, Jens Jorgen

    2010-01-01

    We report a patient with Q fever endocarditis in a settlement in eastern Greenland (Isortoq, Ammassalik area). Likely animal sources include sled dogs and seals. Q fever may be underdiagnosed in Arctic areas but may also represent an emerging infection.......We report a patient with Q fever endocarditis in a settlement in eastern Greenland (Isortoq, Ammassalik area). Likely animal sources include sled dogs and seals. Q fever may be underdiagnosed in Arctic areas but may also represent an emerging infection....

  7. [Acute rheumatic fever].

    Science.gov (United States)

    Maier, Alexander; Kommer, Vera

    2016-03-01

    We report on a young women with acute rheumatic fever. Acute rheumatic fever has become a rare disease in Germany, especially in adults. This carries the risk that it can be missed in the differential diagnostic considerations of acute rheumatic disorders and febrile status. If rheumatic fever is not diagnosed and treated correctly, there is a considerable risk for rheumatic valvular heart disease. In this article diagnosis, differential diagnosis and therapy of rheumatic fever are discussed extensively.

  8. Rat Bite Fever

    Science.gov (United States)

    ... Español Text Size Email Print Share Rat Bite Fever Page Content Article Body Rat-bite fever is a disease that occurs in humans who ... ingestion of contaminated food or milk products (Haverhill fever). Most cases in the United States are caused ...

  9. Scarlet Fever (For Parents)

    Science.gov (United States)

    ... Feeding Your 1- to 2-Year-Old Scarlet Fever KidsHealth > For Parents > Scarlet Fever Print A A A What's in this article? ... to Call the Doctor en español Escarlatina Scarlet fever is caused by an infection with group A ...

  10. Seasonal Allergies (Hay Fever)

    Science.gov (United States)

    ... 1- to 2-Year-Old Seasonal Allergies (Hay Fever) KidsHealth > For Parents > Seasonal Allergies (Hay Fever) Print A A A What's in this article? ... are at work. Seasonal allergies , sometimes called "hay fever" or seasonal allergic rhinitis, are allergy symptoms that ...

  11. Neurological Manifestations in Familial Mediterranean Fever: Results of 22 Children from a Reference Center in Kayseri, an Urban Area in Central Anatolia, Turkey.

    Science.gov (United States)

    Canpolat, Mehmet; Gumus, Hakan; Gunduz, Zubeyde; Dusunsel, Ruhan; Kumandas, Sefer; Bayram, Ayşe Kaçar; Yel, Sibel; Poyrazoglu, Hatice Gamze; Yilmaz, Kenan; Doganay, Selim; Yikilmaz, Ali; Dundar, Munis; Per, Huseyin

    2017-04-01

    Background Familial Mediterranean fever (FMF) is an inherited inflammatory disorder characterized by attacks of fever with polyserositis. Objective The purpose of this study was to evaluate pediatric patients with FMF who had central nervous system (CNS) findings. Materials and Methods Our medical records database for 2003 to 2014 was screened retrospectively. In total, 104 patients with FMF were identified, 22 of whom had undergone neurological examination for CNS symptoms. Results Neurological findings included headache in 16 patients (72.7%), epilepsy in 6 patients (27.3%), pseudotumor cerebri in 2 patients (9.1%), multiple sclerosis in 1 patient (4.5%), and tremor in 1 patient (4.5%). The most common MEFV gene mutation was homozygous M694V (40.9%). Conclusions Patients with FMF can present with various CNS manifestations. Further studies that include large populations are needed to elucidate the neurological manifestations of FMF. Georg Thieme Verlag KG Stuttgart · New York.

  12. Vitamin D levels in children with familial Mediterranean fever.

    Science.gov (United States)

    Onur, Hatice; Aral, Hale; Arica, Vefik; Bercem, Gamze Atalay; Kasapcopur, Ozgur

    2016-04-27

    This study aimed to determine whether vitamin D deficiency is more common in children with familial Mediterranean fever (FMF) than in healthy individuals. The study group consisted of 100 patients diagnosed with FMF and 50 healthy children. Serum baseline 25-hydroxyvitamin D levels and other related parameters were evaluated. The mean (standard deviation [SD]) vitamin D levels in patients with FMF and healthy controls were 24.78 (8.35) and 28.70 (11.70) ng/mL, respectively. Patients with FMF had significantly decreased vitamin D levels compared with those in healthy controls (P = 0.039). Vitamin D levels were similar in patients with FMF with different MEFV mutations (P = 0.633). Age was significantly correlated with vitamin D levels (r = -0.235, P = 0.019). In addition, a negative correlation between parathyroid hormone and vitamin D levels was detected (rs = -0.382, P < 0.0001). This study demonstrated that vitamin D levels are lower in children with FMF than in healthy controls. We speculate that vitamin D levels should be carefully examined, and nutritional supplementation may be required in patients with FMF. Further studies with larger patient populations are needed to confirm the frequency of vitamin D deficiency in patients with FMF.

  13. Pyrin gene and mutants thereof, which cause familial Mediterranean fever

    Energy Technology Data Exchange (ETDEWEB)

    Kastner, Daniel L [Bethesda, MD; Aksentijevichh, Ivona [Bethesda, MD; Centola, Michael [Tacoma Park, MD; Deng, Zuoming [Gaithersburg, MD; Sood, Ramen [Rockville, MD; Collins, Francis S [Rockville, MD; Blake, Trevor [Laytonsville, MD; Liu, P Paul [Ellicott City, MD; Fischel-Ghodsian, Nathan [Los Angeles, CA; Gumucio, Deborah L [Ann Arbor, MI; Richards, Robert I [North Adelaide, AU; Ricke, Darrell O [San Diego, CA; Doggett, Norman A [Santa Cruz, NM; Pras, Mordechai [Tel-Hashomer, IL

    2003-09-30

    The invention provides the nucleic acid sequence encoding the protein associated with familial Mediterranean fever (FMF). The cDNA sequence is designated as MEFV. The invention is also directed towards fragments of the DNA sequence, as well as the corresponding sequence for the RNA transcript and fragments thereof. Another aspect of the invention provides the amino acid sequence for a protein (pyrin) associated with FMF. The invention is directed towards both the full length amino acid sequence, fusion proteins containing the amino acid sequence and fragments thereof. The invention is also directed towards mutants of the nucleic acid and amino acid sequences associated with FMF. In particular, the invention discloses three missense mutations, clustered in within about 40 to 50 amino acids, in the highly conserved rfp (B30.2) domain at the C-terminal of the protein. These mutants include M6801, M694V, K695R, and V726A. Additionally, the invention includes methods for diagnosing a patient at risk for having FMF and kits therefor.

  14. Update on Pyrin Functions and Mechanisms of Familial Mediterranean Fever

    Science.gov (United States)

    Manukyan, Gayane; Aminov, Rustam

    2016-01-01

    Mutations in the MEFV gene, which encodes the protein named pyrin (also called marenostrin or TRIM20), are associated with the autoinflammatory disease familial Mediterranean fever (FMF). Recent genetic and immunologic studies uncovered novel functions of pyrin and raised several new questions in relation to FMF pathogenesis. The disease is clinically heterogeneous reflecting the complexity and multiplicity of pyrin functions. The main functions uncovered so far include its involvement in innate immune response such as the inflammasome assemblage and, as a part of the inflammasome, sensing intracellular danger signals, activation of mediators of inflammation, and resolution of inflammation by the autophagy of regulators of innate immunity. Based on these functions, the FMF-associated versions of pyrin confer a heightened sensitivity to a variety of intracellular danger signals and postpone the resolution of innate immune responses. It remains to be demonstrated, however, what kind of selective advantage the heterozygous carriage conferred in the past to be positively selected and maintained in populations from the Mediterranean basin. PMID:27066000

  15. MEFV gen mutasyonlarının tüberküloza direnç ile olası ilişkisi

    Directory of Open Access Journals (Sweden)

    Malik Ejder Yıldırım

    2014-09-01

    Full Text Available Amaç. Mycobacterium tuberculosis enfeksiyonu dünya üzerinde ciddi bir halk sağlığı sorunudur. T-helper 1 hücreleri tüberküloz patogenezinde önemli bir rol oynamaktadır. Ailesel Akdeniz Ateşi (FMF hastaları ve taşıyıcılarında T-helper 1’in artmış aktivitesi söz konusudur. Bu çalışmayı, bağışıklık temelinde, MEFV gen mutasyonlarıyla tüberküloza karşı direnç arasında olası ilişkiyi değerlendirmek üzere yaptık. Yöntem. Bu çalışma 2007-2009 yılları arasında Cumhuriyet Üniversitesi Tıp Fakültesi Göğüs Hastalıkları Anabilim Dalı’na başvuran ve fizik muayene, mikrobiyolojik ve radyolojik tetkiklerle tüberküloz tanısı alan 51 hasta (23 kadın, 28 erkek ve 57 kişilik kontrol grubuyla (26 kadın, 31 erkek gerçekleştirilmiştir. Her iki grupta revers hibridizasyon FMF Strip Assay (ViennaLab Labordiagnostika, Vienna, Austria tekniği kullanılarak 12 yaygın MEFV gen mutasyonu araştırılmıştır. Bulgular. MEFV mutasyonlarının dağılımı açısından hasta ve kontrol grupları arasında önemli bir fark saptanmamıştır (p>0,05. Hasta grubunda 22 MEFV gen mutasyonu (%43,1 vardı. Homozigot mutasyon tespit edilmedi. Hasta grubundaki mutasyonların tamamı heterozigottu. Kontrol grubunda da homozigot mutasyona rastlanmazken, toplam 29 (%50,8 heterozigot mutasyona rastlandı. Sonuç. Elde edilen veriler tüberküloz hastalarında MEFV geni mutasyon sıklığının sağlıklı populasyona oranla önemli bir farklılık göstermediğini düşündürmektedir. FMF mutasyonları tüberküloza yakalanmakta değil ama hastalığın seyrinde etkili olabilir.

  16. Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.

    Science.gov (United States)

    Rowczenio, Dorota M; Iancu, Daniela S; Trojer, Hadija; Gilbertson, Janet A; Gillmore, Julian D; Wechalekar, Ashutosh D; Tekman, Mehmet; Stanescu, Horia C; Kleta, Robert; Lane, Thirusha; Hawkins, Philip N; Lachmann, Helen J

    2017-02-01

    This study was undertaken to characterize the phenotype and response to treatment in patients with autosomal dominant FMF caused by MEFV p.M694del mutation and to use haplotype reconstruction to investigate the possibility of common ancestry. MEFV gene was analysed in 3500 subjects with suspected FMF referred to a single UK centre between 2002 and 2014. Patients with p.M694del underwent additional screening of the SAA1 gene as well as haplotype reconstruction of the MEFV locus. The p.M694del variant was identified in 21 patients, sharing an identical disease haplotype that appears to have arisen about 550 years ago. The SAA1.1 allele was found in four patients, including two with AA amyloidosis. The clinical features comprised typical FMF symptoms with median age at onset of 18 years; three patients presented with AA amyloidosis, of whom two had had symptoms of FMF in retrospect. Fifteen patients had received colchicine treatment, all with excellent responses. The p.M694del variant is associated with autosomal dominantly inherited FMF in Northern European Caucasians. Symptoms may develop later in life than in classical recessive FMF but are otherwise similar, as is the response to colchicine treatment. The 14% incidence of AA amyloidosis may reflect delay in diagnosis associated with extreme rarity of FMF in this population. The common haplotype suggests a single founder living in about 1460. © The Author 2016. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  17. Association of familial Mediterranean fever in Turkish children with inflammatory bowel disease.

    Science.gov (United States)

    Beşer, Ömer Faruk; Çokuğraş, Fügen Çullu; Kutlu, Tufan; Erginöz, Ethem; Gülcü, Didem; Kasapçopur, Özgür; Erkan, Tülay

    2014-09-01

    Familial Mediterranean fever (FMF) and inflammatory bowel disease (IBD) carry similar clinical and biological properties. Both are characterized with chronic inflammation attacks and neutrophil migration and impaired apoptosis mechanism are present in the areas of damage in both conditions. In our study, we aimed to determine the frequency of association of FMF in patients with IBD, to compare the demographic, clinical, laboratory and treatment response properties in these patients with the ones in other IBD patients and to determine association of FMF especially in treatment-resistant patients. Fifty-three patients who were being followed up with a diagnosis of IBD aged between 0 and 18 years were included in the study. The patient group included the patients who were diagnosed with IBD according to clinical, serological, endoscopic and histopathological criteria, who were being followed up and whose therapies were continuing. Genetic analysis in terms of MEFV gene mutations was performed in all patients with a diagnosis of IBD. Acute phase reactants, complete blood count, immunoglobulin levels, stool analysis, "perinuclear anti-neutrophil cytoplasmic antibodies" (pANCA) and "anti-Saccharomyces cerevisiae antibodies" (ASCA) were studied at the time of diagnosis. The diagnosis of FMF was made according to detailed history, physical examination findings, laboratory tests and the results of genetic analyses in terms of MEFV gene mutations in accordance with the criteria defined in 2009. We found that FMF accompanied in 14 (26.4%) of the patients who had a diagnosis of IBD. 3 of these 14 patients in whom FMF accompanied were being followed up with a diagnosis of Crohn disease and 11 were being followed up with a diagnosis of ulcerative colitis. All of these patients had MEFV gene mutation. These mutations included M694V (50%), K695R (21.4%), M680I (14.3%) and R202Q (14.3%) in order of frequency. When the laboratory data were compared between the patients who had a

  18. Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children’ Hospital, Mansoura, Egypt

    Science.gov (United States)

    Al-Haggar, Mohammad S.; Yahia, Sohier; Abdel-Hady, Dina; Al-Saied, Afaf; Al-Kenawy, Rasha; Abo-El-Kasem, Rabab

    2014-01-01

    BACKGROUND: Familial Mediterranean fever (FMF) is autosomal recessive disease that affects people from Mediterranean region, Europe and Japan. Its gene (Mediterranean fever [MEFV]) has more than 100 mostly non-sense mutations. OBJECTIVES: The objective of the following study is to provide some phenotype-genotype correlates in FMF by categorizing the Egyptian FMF cases from Delta governorates after analysis of the four most common mutations of MEFV gene (M680I, M694I, M694V, V726A). SUBJECTS AND METHODS: Clinically, suspected FMF cases using Tel-Hashomer criteria were enrolled in the study. Cases were referred to Mansoura University Children's Hospital that serves most of the most middle Delta governorates, in the period from 2006 to 2011. Subjects included 282 males and 144 females, mean age of onset 9.3 ± 2.2 years. All cases were analyzed for these mutations using amplification refractory mutation system based on the polymerase chain reaction technique. Five FMF patients agreed to undergo renal biopsy to check for development of amyloidosis. Analysis of data was carried out using SPSS (SPSS, Inc., Chicago, IL, USA). RESULTS: Mutation was found in 521 out of 852 studies alleles, the most frequent is M694V (35.4%) followed by M694I, V726A and M680I. 11 cases were homozygous; 7 M694V, 3 M680I and only one M694I case. Severe abdominal pain occurred in 31 (7.28%) but severe arthritis in 103 cases (24.2%). Strong association was found between arthritis and homozygous mutant compared with single and double heterozygous (72.7% vs. 33.3% and 20.24%, P < 0.001). Four amyloid cases were M694V positive. CONCLUSION: M694V allele is the most common among Egyptian FMF especially those with amyloidosis. We recommend routine check for amyloidosis in FMF cases to statistically validate this link. PMID:24959013

  19. Comparison of acute phase response during attack and attack-free period in children with Familial Mediterranean Fever

    Directory of Open Access Journals (Sweden)

    Erdal Çakmak

    2013-06-01

    Full Text Available Objective: The aim of this study was to compare acutephase reactant (AFR levels at attack period and attackfreeperiod under colchicine treatment in children with FamilialMediterranean Fever (FMF.Methods: The diagnosis of FMF was done based on clinicalcriteria and patients were prospectively followed upfor average of 1.2 years. Symptom-onset age, age at diagnosis,clinical symptoms and features of FMF attackswere recorded. MEFV gene mutations were detected byreverse hybridization (strip assay method. Peripheralblood leukocyte count, erythrocyte sedimentation rate(ESR, C-reactive protein (CRP and blood fibrinogen levelswere measured by standard methods, both at attackperiod and during attack-free period.Results: Totally 105 (55 girls, 50 boys children with FMFwere included. The mean age was 8.9±3.2 years, meansymptom onset age was 5.9 years and mean age at diagnosiswas 8.1 years. MEFV gene mutations were asfollows: E148Q (29.2%, M694V (24.8%, R761H (15.3%and V726A (13.1%. The mean AFR values were overnormal values in attack period and there was at least onehigh AFR level in 80.0% of patients. In attack-free period,although the mean values of all AFRs were within normallimits, 31.4% of patients had at least one high AFR level.Conclusion: Based on these data, one-third of FMF childrenhad a high AFR level, which may be a marker of subclinicalinflammation. In children with continuous inflammationduring attack-free period, a new anti-inflammatorydrug additional to colchicine can be considered in order toprevent complications of chronic inflammation. J Clin ExpInvest 2013; 4 (2: 213-218Key words: Familial Mediterranean Fever, acute phasereactants, children, attack period, attack-free period

  20. Rheumatic fever reappraised

    Institute of Scientific and Technical Information of China (English)

    Ulrik Baandrup

    2005-01-01

    @@ Rheumatic fever is a complication following an episode of group A streptococcal pharyngitis. It is an acute immunologically mediated, multisystem inflammatory disorder. Acute rheumatic heart disease during the active phase of rheumatic fever sometimes progresses to chronic rheumatic heart disease. Despite its declining importance in industrialised countries rheumatic fever remains the leading cause of death from heart disease in children and young adults in less developed regions. Fifteen to twenty million new cases emerge every year in developing countries.1

  1. [Familial Mediterranean Fever (FMF): from diagnosis to treatment].

    Science.gov (United States)

    Medlej-Hashim, Myrna; Loiselet, Jacques; Lefranc, Gérard; Mégarbané, André

    2004-01-01

    Familial Mediterranean Fever (FMF), also known as paroxysmal polyserositis, is an autosomal recessive disease affecting mainly Mediterranean populations (Jews, Armenians, Arabs, Turks). It is characterised by recurrent crises of fever and serosal inflammation, leading to abdominal, thoracic or articular pain. Erysipela-like erythema affecting mainly feet and legs and effort-induced myalgia are less frequently encountered symptoms. The major complication of FMF is the development of renal amyloidosis. Standard laboratory tests of FMF patients are non-informative, except for the high sedimentation rate and white blood cell count, but during and immediately after crises, diminished albumin concentrations and elevated fibrinogen, C-reactive protein, beta2 and alpha2 M globulins, haptoglobin and lipoprotein concentrations are noted. Studies have measured immunoglobulin (Ig) levels in the sera of FMF patients and found elevated levels of IgA, IgM, IgG, and IgD in 23%, 13%, 17% and 13%, respectively. FMF crises are characterised by a massive influx of polymorphonuclear leukocytes into the inflamed regions. Moreover, the peritoneal fluid of FMF patients contains abnormally low levels of the inhibitor of complement fragment C5a and interleukin 8. Failure to suppress inflammatory response to C5a may explain the typical inflammatory FMF crises. The MEFV (for MEditerranean FeVer) gene responsible for the disease has been identified on 16p13.3. It is composed of 10 exons and spans approximately 14 Kb of genomic DNA. More than 35 mutations have so far been identified. The most frequent are M694V, M694I, M680I, V726A and E148Q. The M694V mutation is the most frequent mutation in the various ethnic groups considered, although its frequency varies from group to group. The V726A mutation is observed mainly among Ashkenazi and Iraqi Jews, Druzes and Armenians, and the M680I among Armenians and Turks. M694I and A744S seem specific to Arab populations, and R761H is frequently found in

  2. Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients

    Directory of Open Access Journals (Sweden)

    Daša Perko

    2015-01-01

    Full Text Available PFAPA syndrome is the most common autoinflammatory disorder in childhood with unknown etiology. The aim of our study was clinical evaluation of PFAPA patients from a single tertiary care center and to determine whether variations of AIM2, MEFV, NLRP3, and MVK genes are involved in PFAPA pathogenesis. Clinical and laboratory data of consecutive patients with PFAPA syndrome followed up at the University Children’s Hospital, Ljubljana, were collected from 2008 to 2014. All four genes were PCR amplified and directly sequenced. Eighty-one patients fulfilled criteria for PFAPA syndrome, 50 (63% boys and 31 (37% girls, with mean age at disease onset of 2.1 ± 1.5 years. Adenitis, pharyngitis, and aphthae were present in 94%, 98%, and 56%, respectively. Family history of recurrent fevers in childhood was positive in 78%. Nineteen variants were found in 17/62 (27% patients, 4 different variants in NLRP3 gene in 13 patients, and 6 different variants in MEFV gene in 5 patients, and 2 patients had 2 different variants. No variants of clinical significance were found in MVK and AIM2 genes. Our data suggest that PFAPA could be the result of multiple low-penetrant variants in different genes in combination with epigenetic and environmental factors leading to uniform clinical picture.

  3. Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients

    Science.gov (United States)

    Perko, Daša; Debeljak, Maruša; Toplak, Nataša; Avčin, Tadej

    2015-01-01

    PFAPA syndrome is the most common autoinflammatory disorder in childhood with unknown etiology. The aim of our study was clinical evaluation of PFAPA patients from a single tertiary care center and to determine whether variations of AIM2, MEFV, NLRP3, and MVK genes are involved in PFAPA pathogenesis. Clinical and laboratory data of consecutive patients with PFAPA syndrome followed up at the University Children's Hospital, Ljubljana, were collected from 2008 to 2014. All four genes were PCR amplified and directly sequenced. Eighty-one patients fulfilled criteria for PFAPA syndrome, 50 (63%) boys and 31 (37%) girls, with mean age at disease onset of 2.1 ± 1.5 years. Adenitis, pharyngitis, and aphthae were present in 94%, 98%, and 56%, respectively. Family history of recurrent fevers in childhood was positive in 78%. Nineteen variants were found in 17/62 (27%) patients, 4 different variants in NLRP3 gene in 13 patients, and 6 different variants in MEFV gene in 5 patients, and 2 patients had 2 different variants. No variants of clinical significance were found in MVK and AIM2 genes. Our data suggest that PFAPA could be the result of multiple low-penetrant variants in different genes in combination with epigenetic and environmental factors leading to uniform clinical picture. PMID:25821352

  4. African tick bite fever

    DEFF Research Database (Denmark)

    Johansen, Jakob Aaquist; Thybo, Søren

    2011-01-01

    The incident of spotted fever imported to Denmark is unknown. We present a classic case of African Tick Bite Fever (ATBF) to highlight a disease, which frequently infects wildlife enthusiasts and hunters on vacation in South Africa. ATBF has a good prognosis and is easily treated with doxycyclin...

  5. Haemoragisk Rift Valley Fever

    DEFF Research Database (Denmark)

    Fabiansen, Christian; Thybo, Søren

    2007-01-01

    A case of fatal hemorrhagic Rift Valley fever during an epidemic in Kenya's North Eastern Province in January 2007 is described.......A case of fatal hemorrhagic Rift Valley fever during an epidemic in Kenya's North Eastern Province in January 2007 is described....

  6. Rift Valley Fever Virus

    Science.gov (United States)

    Rift Valley fever virus (RVFV) is a mosquito-transmitted virus or arbovirus that is endemic in sub-Saharan Africa. In the last decade, Rift Valley fever (RVF) outbreaks have resulted in loss of human and animal life, as well as had significant economic impact. The disease in livestock is primarily a...

  7. Neonatal typhoid fever.

    OpenAIRE

    Chin, K C; Simmonds, E J; Tarlow, M J

    1986-01-01

    Three infants of Pakistani immigrant mothers developed typhoid fever in the neonatal period. All three survived, but two became chronic excretors of Salmonella typhi. The risk of an outbreak of typhoid fever in a maternity unit or special care baby unit is emphasized.

  8. Rat bite fever.

    NARCIS (Netherlands)

    Gaastra, W.; Boot, R.G.A.; Ho, H.; Lipman, L.J.A.

    2009-01-01

    Rat bite fever (RBF) is a bacterial zoonosis for which two causal bacterial species have been identified: Streptobacillis moniliformis and Spirillum minus. Haverhill fever (HF) is a form of S. moniliformis infection believed to develop after ingestion of contaminated food or water. Here the

  9. Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome: a Review of the Pathogenesis.

    Science.gov (United States)

    Theodoropoulou, Katerina; Vanoni, Federica; Hofer, Michaël

    2016-04-01

    PFAPA syndrome represents the most common cause of recurrent fever in children in European populations, and it is characterized by recurrent episodes of high fever, pharyngitis, cervical adenitis, and aphthous stomatitis. Many possible causative factors have been explored so far, including infectious agents, immunologic mechanisms and genetic predisposition, but the exact etiology remains unclear. Recent findings demonstrate a dysregulation of different components of innate immunity during PFAPA flares, such as monocytes, neutrophils, complement, and pro-inflammatory cytokines, especially IL-1β, suggesting an inflammasome-mediated innate immune system activation and supporting the hypothesis of an autoinflammatory disease. Moreover, in contrast with previous considerations, the strong familial clustering suggests a potential genetic origin rather than a sporadic disease. In addition, the presence of variants in inflammasome-related genes, mostly in NLRP3 and MEFV, suggests a possible role of inflammasome-composing genes in PFAPA pathogenesis. However, none of these variants seem to be relevant, alone, to its etiology, indicating a high genetic heterogeneity as well as an oligogenic or polygenic genetic background.

  10. Interleukin-1 targeting treatment in familial Mediterranean fever: an experience of pediatric patients.

    Science.gov (United States)

    Başaran, Özge; Uncu, Nermin; Çelikel, Banu Acar; Taktak, Aysel; Gür, Gökçe; Cakar, Nilgun

    2015-07-01

    The aim of this report was to evaluate and discuss treatment of pediatric familial Mediterranean fever (FMF) patients with anti-interleukin1 (IL-1) agents. Refractory or colchicine unresponsive FMF was described as severe and frequent attacks and/or having high acute phase reactance levels despite having a maximum dose of colchicine (2 mg/day). Disease course, adverse effects, duration of follow-up, treatment protocols, responses to the therapies were discussed. Eight patients (6 male, 2 female) having refractory FMF were identified. Mediterranean fever (MEFV) gene analyses revealed homozygous M694V mutations in six patients and heterozygote M694V mutations in one patient and no mutation in one patient. They were all treated with anakinra and/or canakinumab. The use of anti-IL-1 drugs was beneficial to all patients. None of them had any severe adverse effects due to the therapy. Anakinra and canakinumab were effective in patient refractory to colchicine treatment as shown both in our series and in the literature. Therefore, controlled trials are needed to evaluate the safety and long-term efficacy of IL-1 targeting agents in colchicine resistant patients.

  11. Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever.

    Science.gov (United States)

    Çetin, Deniz; Genç Çetin, Beyza; Şentürk, Taşkın; Şahin Çildağ, Songül; Yılmaz Akdam, İkbal

    2015-03-01

    Primary ciliary dyskinesia (PCD) is a rare disease, predominantly inherited as an autosomal recessive, with ciliary dysfunction leading to impaired mucociliary clearance, chronic airway infection and inflammation. Situs inversus totalis occurs in ~50 % of PCD patients and it is known as Kartagener syndome. Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever and peritonitis, pleuritis, arthritis, or erysipelas-like skin disease. FMF is caused by mutations in the MEFV gene which is located on chromosome 16p13.3. p.M680I, p.M694 V, p.M694I, p.V726A on exon 10 and p.E148Q on exon 2 are the most common mutations among FMF patients and these constitute 85 % of all. Homozygosity of R202Q polymorphism is strongly associated with FMF. We would like to present a case of Kartagener syndrome accompanied by FMF with R202Q polymorphism. Our case is the first in the literature indicating the accidental coexistence of FMF and Kartagener syndrome.

  12. Q fever - early

    Science.gov (United States)

    ... if untreated. Other complications can include: Bone infection ( osteomyelitis ) Brain infection ( encephalitis ) Liver infection (chronic hepatitis) Lung ... 2015:chap 190. Read More Encephalitis Endocarditis Flu Osteomyelitis Pneumonia - adults (community acquired) Q fever Tick bite ...

  13. Dengue hemorrhagic fever

    Science.gov (United States)

    ... that is infected with the virus. The mosquito Aedes aegypti is the main species that spreads this ... especially if you have had dengue fever before. Prevention Because there is no way to prevent dengue ...

  14. Familial Mediterranean Fever

    Science.gov (United States)

    ... don't use genetic tests as the sole method of diagnosing familial Mediterranean fever. There's no cure ... may be options, though these treatments are considered experimental. Other medications include rilonacept (Arcalyst) and anakinra (Kineret). ...

  15. Eliana Machado, Locus Brasilis

    OpenAIRE

    Ramos, Domingo

    2013-01-01

    Locus Brasilis es un complejo libro de la poeta brasileña y trilingüe Eliana Machado, que actualmente radica en Europa y por primera vez publica en el Perú. El volumen, el segundo de la autora luego de Blanco en el blanco, que apareció en Sao Paulo, consta de tres partes bien definidas, que corresponden a los tres reinos de la naturaleza. En poesía esto se traslada al hombre con sus respectivos correlatos del animal como ser destructivo, pero también conciliador y hasta protector de un mundo ...

  16. Paracetamol and fever management.

    Science.gov (United States)

    Warwick, C

    2008-11-01

    Paracetamol is one of the most commonly used legal drugs in the western world. Its availability is good, cost is low, and its uses include 'over-the-counter' (OTC) distribution, primary care prescribed therapy, secondary care 'post-operative' application and emergency treatment. Stated benefits of paracetamol include: the drug's analgesic effects, preference to aspirin in avoidance of Reye's syndrome, good patient tolerance, and iatrogenic complications are infrequent and minor. Stated cautions include hepatotoxic effect following minor doses and short duration use and users may incur compromised immune integrity. This paper is concerned with paracetamol's role in fever management. Public concern regarding, in particular, childhood fever and febrile convulsions is largely unwarranted. Despite paracetamol's reputation as a popular fever-reducing agent the drug is poorly effective in the control of febrility and febrile convulsions showing no important advantage compared with placebo. Paracetamol is probably grossly over-prescribed for fever management and its value more perceived than real. Greater efforts are needed to inform patients of the natural benefits of the biological strategy of fever and of the highly limited and in some cases contraindicated use of paracetamol in fever management.

  17. Emergence of Q Fever

    Directory of Open Access Journals (Sweden)

    E Angelakis

    2011-09-01

    Full Text Available Q fever is a worldwide zoonosis with many acute and chronic manifestations caused by the pathogen Coxiella burnetii. Farm animals and pets are the main reservoirs of infection, and transmission to human beings is mainly accomplished through inhalation of contaminated aerosols. Persons at greatest risk are those in contact with farm animals and include farmers, abattoir workers, and veterinarians. The organs most commonly affected during Q fever are the heart, the arteries, the bones and the liver. The most common clinical presentation is an influenza-like illness with varying degrees of pneumonia and hepatitis. Although acute disease is usually self-limiting, people do occasionally die from this condition. Endocarditis is the most serious and most frequent clinical presentation of chronic Q fever. Vascular infection is the second most frequent presentation of Q fever. The diagnosis of Q fever is based on a significant increase in serum antibody titers. The treatment is effective and well tolerated, but must be adapted to the acute or chronic pattern with the tetracyclines to be considered the mainstay of antibiotic therapy. For the treatment of Q fever during pregnancy the use of long-term cotrimoxazole therapy is proposed.

  18. Typhoid fever in Ethiopia.

    Science.gov (United States)

    Beyene, Getenet; Asrat, Daniel; Mengistu, Yohannes; Aseffa, Abrham; Wain, John

    2008-12-01

    This review focuses on the reports of salmonellosis by investigators in different parts of Ethiopia, in particular focusing on the levels of typhoid fever. Many of the reports are published in local journals that are not available online. There have been seven studies which diagnosed typhoid fever by laboratory culture and there is no coordinated epidemiological surveillance. All conducted research and reports from different health institutions in Ethiopia indicate that typhoid fever was still a common problem up to the most recent study in 2000 and that the extensive use of first-line drugs has led to the development of multiple drug resistance. In the sites covered by this review, the total number of published cases of typhoid fever dropped over time reflecting the decline in research capacity in the country. Data on the proportion of patients infected by different serovars of Salmonella suggest that the non-Typhi serovars of Salmonella are increasing. The published evidence suggests that typhoid fever is a current public health problem in Ethiopia although population based surveys, based on good microbiological diagnosis, are urgently needed. Only then can the true burden of enteric fever be estimated and the benefit of public health control measures, such as health education, safe water provision, improved food hygienic practices and eventually vaccination, be properly assessed.

  19. Bone Mineral Density in Egyptian Children with Familial Mediterranean Fever

    Directory of Open Access Journals (Sweden)

    Samia Salah

    2016-01-01

    Full Text Available Background: Familial Mediterranean fever (FMF has episodic or subclinical inflammation that may lead to a decrease in bone mineral density (BMD. The objective of this study was to assess BMD in Egyptian children with FMF on genetic basis. Methods: A cross sectional study included 45 FMF patients and 25 control children of both sexes in the age range between 3-16 years old. The patients were reclassified into two groups, namely group I(A with 23 cases using colchicine for 1 month or less, and group I(B with 22 cases using colchicine for more than 6 months. For both the patients and control groups, MEFV mutations were defined using molecular genetics technique and BMD was measured by DXA at the proximal femur and lumbar spines. Results: Four frequent gene mutations were found in the patient group E148Q (35.6%, V726A (33.3%, M680I (28.9%, and M694V (2.2%. There were also four heterozygous gene mutations in 40% of the control children. Patients receiving colchicine treatment for less than 1 month had highly significant lower values of BMD at the femur and lumbar spines than the control children (P=0.007, P<0.001. Patients receiving colchicine treatment for more than 6 months had improved values of BMD at femur compared with the control, but there were still significant differences between them in lumbar spine (P=0.036. There were insignificant effect of gene mutation type on BMD and the risk of osteopenia among the patients. Conclusion: FMF had a significant effect on BMD. However, regular use of colchicine treatment improves this effect mainly at the femur.

  20. Decreased vitamin D levels in children with familial Mediterranean fever.

    Science.gov (United States)

    Anık, Ahmet; Catlı, Gönül; Makay, Balahan; Abacı, Ayhan; Küme, Tuncay; Unsal, Erbil; Böber, Ece

    2014-03-01

    To determine the frequency of vitamin D deficiency in children with familial Mediterranean fever (FMF) and to investigate the factors associated with low vitamin D status. Forty-four patients with FMF and 39 age- and sex-matched healthy controls were enrolled in this study. Demographic data, FMF symptoms, disease duration, time to delay for diagnosis, duration of follow-up, disease severity score, MEFV gene mutation, cumulative colchicine dose, compliance to treatment and serum C-reactive protein levels were recorded for each patient. Serum 25-hydroxyvitamin D levels were measured by an original commercial kit based on chemiluminescent microparticle immunoassay (CMIA). The serum 25-hydroxyvitamin D levels were significantly lower in FMF patients than the healthy controls (12.9 ± 3.6 and 16.3 ± 5.5 ng/mL, respectively, P = 0.001). Vitamin D levels were similar in patients homozygous for M694V and other genotypes (11.8 ± 3.7 and 13.2 ± 3.6 ng/mL, respectively, P = 0.21). Stepwise multiple linear regression analysis confirmed that the cumulative colchicine dose was the strongest independent variable correlating with vitamin D levels (r(2) = 0.194, P = 0.001). Our results suggest that serum 25-hydroxyvitamin D levels are decreased in children with FMF. Cumulative colchicine dose appears to negatively affect vitamin D levels. The role of colchicine on vitamin D metabolism needs to be elicited. © 2014 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

  1. The contribution of SAA1 polymorphisms to Familial Mediterranean fever susceptibility in the Japanese population.

    Directory of Open Access Journals (Sweden)

    Kiyoshi Migita

    Full Text Available BACKGROUND/AIMS: Familial Mediterranean Fever (FMF has traditionally been considered to be an autosomal-recessive disease, however, it has been observed that substantial numbers of patients with FMF possess only 1 demonstrable MEFV mutation. The clinical profile of familial Mediterranean fever (FMF may be influenced by MEFV allelic heterogeneity and other genetic and/or environmental factors. METHODOLOGY/PRINCIPAL FINDINGS: In view of the inflammatory nature of FMF, we investigated whether serum amyloid A (SAA and interleukin-1 beta (IL-1β gene polymorphisms may affect the susceptibility of Japanese patients with FMF. The genotypes of the -13C/T SNP in the 5'-flanking region of the SAA1 gene and the two SNPs within exon 3 of SAA1 (2995C/T and 3010C/T polymorphisms were determined in 83 Japanese patients with FMF and 200 healthy controls. The same samples were genotyped for IL-1β-511 (C/T and IL-1 receptor antagonist (IL-1Ra variable number of tandem repeat (VNTR polymorphisms. There were no significant differences between FMF patients and healthy subjects in the genotypic distribution of IL-1β -511 (C/T, IL-1Ra VNTR and SAA2 polymorphisms. The frequencies of SAA1.1 allele were significantly lower (21.7% versus 34.0%, and inversely the frequencies of SAA1.3 allele were higher (48.8% versus 37.5% in FMF patients compared with healthy subjects. The frequency of -13T alleles, associated with the SAA1.3 allele in the Japanese population, was significantly higher (56.0% versus 41.0%, p=0.001 in FMF patients compared with healthy subjects. CONCLUSIONS/SIGNIFICANCE: Our data indicate that SAA1 gene polymorphisms, consisting of -13T/C SNP in the 5'-flanking region and SNPs within exon 3 (2995C/T and 3010C/T polymorphisms of SAA1 gene, are associated with susceptibility to FMF in the Japanese population.

  2. Behavioral fever in ectothermic vertebrates.

    Science.gov (United States)

    Rakus, Krzysztof; Ronsmans, Maygane; Vanderplasschen, Alain

    2017-01-01

    Fever is an evolutionary conserved defense mechanism which is present in both endothermic and ectothermic vertebrates. Ectotherms in response to infection can increase their body temperature by moving to warmer places. This process is known as behavioral fever. In this review, we summarize the current knowledge on the mechanisms of induction of fever in mammals. We further discuss the evolutionary conserved mechanisms existing between fever of mammals and behavioral fever of ectothermic vertebrates. Finally, the experimental evidences supporting an adaptive value of behavioral fever expressed by ectothermic vertebrates are summarized. Copyright © 2016 Elsevier Ltd. All rights reserved.

  3. Recurrent Fever in Children.

    Science.gov (United States)

    Torreggiani, Sofia; Filocamo, Giovanni; Esposito, Susanna

    2016-03-25

    Children presenting with recurrent fever may represent a diagnostic challenge. After excluding the most common etiologies, which include the consecutive occurrence of independent uncomplicated infections, a wide range of possible causes are considered. This article summarizes infectious and noninfectious causes of recurrent fever in pediatric patients. We highlight that, when investigating recurrent fever, it is important to consider age at onset, family history, duration of febrile episodes, length of interval between episodes, associated symptoms and response to treatment. Additionally, information regarding travel history and exposure to animals is helpful, especially with regard to infections. With the exclusion of repeated independent uncomplicated infections, many infective causes of recurrent fever are relatively rare in Western countries; therefore, clinicians should be attuned to suggestive case history data. It is important to rule out the possibility of an infectious process or a malignancy, in particular, if steroid therapy is being considered. After excluding an infectious or neoplastic etiology, immune-mediated and autoinflammatory diseases should be taken into consideration. Together with case history data, a careful physical exam during and between febrile episodes may give useful clues and guide laboratory investigations. However, despite a thorough evaluation, a recurrent fever may remain unexplained. A watchful follow-up is thus mandatory because new signs and symptoms may appear over time.

  4. Recurrent Fever in Children

    Directory of Open Access Journals (Sweden)

    Sofia Torreggiani

    2016-03-01

    Full Text Available Children presenting with recurrent fever may represent a diagnostic challenge. After excluding the most common etiologies, which include the consecutive occurrence of independent uncomplicated infections, a wide range of possible causes are considered. This article summarizes infectious and noninfectious causes of recurrent fever in pediatric patients. We highlight that, when investigating recurrent fever, it is important to consider age at onset, family history, duration of febrile episodes, length of interval between episodes, associated symptoms and response to treatment. Additionally, information regarding travel history and exposure to animals is helpful, especially with regard to infections. With the exclusion of repeated independent uncomplicated infections, many infective causes of recurrent fever are relatively rare in Western countries; therefore, clinicians should be attuned to suggestive case history data. It is important to rule out the possibility of an infectious process or a malignancy, in particular, if steroid therapy is being considered. After excluding an infectious or neoplastic etiology, immune-mediated and autoinflammatory diseases should be taken into consideration. Together with case history data, a careful physical exam during and between febrile episodes may give useful clues and guide laboratory investigations. However, despite a thorough evaluation, a recurrent fever may remain unexplained. A watchful follow-up is thus mandatory because new signs and symptoms may appear over time.

  5. Evidence of digenic inheritance in autoinflammation-associated genes

    Indian Academy of Sciences (India)

    VASSOS NEOCLEOUS; STEFANIA BYROU; MEROPI TOUMBA; CONSTANTINA COSTI; CHRISTOS SHAMMAS; CHRISTINA KYRIAKOU; VIOLETTA CHRISTOPHIDOU-ANASTASIADOU; GEORGE A. TANTELES; ADAMOS HADJIPANAYIS; LEONIDAS A. PHYLACTOU

    2016-12-01

    Familial Mediterranean fever (FMF) has traditionally been considered as a monogenic autosomal recessive disorder caused by mutations in the MEFV gene with highest incidence among Mediterranean populations. In a considerable number of patients with typical FMF, only one MEFV mutation was identified and the possibility that more than one autoinflammatory gene may be responsible for their disease was investigated. In the present study, an extensive search for possiblemutations in three hereditary recurrent fever (HRF) genes was performed in 128 MEFV heterozygous Greek–Cypriots clinically diagnosed based on their phenotype with FMF-like disease from a previous study. Sequence analysis was performedfor MVK, TNFRSF1A and NLRP3 genes which is also known to cause HRFs. In total, three patients were identified with heterozygous mutations and a second mutation in an autoinflammatory gene. Two patients carried a MEFVmutation and a NLRP3 mutation, and an additional third carried a MEFV mutation and a TNFRSF1A mutation. Patient 1 carried MEFV p.[Val726Ala] (NM_000243.2:c.2177T>C) and NLRP3 p.[Val198Met] (NM_001243133.1:c.592G>A) variants and patient 2 carried MEFV p.[Glu148Gln] (NM_000243.2:c.442G>C) variant which is of uncertain significance and NLRP3 p.[Arg176Trp] (NM_001243133.1:c.526C>T). Lastly, patient 3 was identified to carry MEFV p.[Met694Val] (NM_000243.2:c.2080A>G) and TNFRSF1A p.[Arg121Gln] (NM_001065.3:c.362G>A) variants. The results from this study indicate that screening of genes known to cause HRFs in patients already identified with a single MEFV mutation, can reveal quite rare but potentially causative mutational combinations at different loci. Such interaction provide further evidence for possible locus–locus interactions and phenotypes resulting from digenic inheritance.

  6. Pathogenesis of Lassa fever.

    Science.gov (United States)

    Yun, Nadezhda E; Walker, David H

    2012-10-09

    Lassa virus, an Old World arenavirus (family Arenaviridae), is the etiological agent of Lassa fever, a severe human disease that is reported in more than 100,000 patients annually in the endemic regions of West Africa with mortality rates for hospitalized patients varying between 5-10%. Currently, there are no approved vaccines against Lassa fever for use in humans. Here, we review the published literature on the life cycle of Lassa virus with the specific focus put on Lassa fever pathogenesis in humans and relevant animal models. Advancing knowledge significantly improves our understanding of Lassa virus biology, as well as of the mechanisms that allow the virus to evade the host's immune system. However, further investigations are required in order to design improved diagnostic tools, an effective vaccine, and therapeutic agents.

  7. Pathogenesis of Lassa Fever

    Directory of Open Access Journals (Sweden)

    David H. Walker

    2012-10-01

    Full Text Available Lassa virus, an Old World arenavirus (family Arenaviridae, is the etiological agent of Lassa fever, a severe human disease that is reported in more than 100,000 patients annually in the endemic regions of West Africa with mortality rates for hospitalized patients varying between 5-10%. Currently, there are no approved vaccines against Lassa fever for use in humans. Here, we review the published literature on the life cycle of Lassa virus with the specific focus put on Lassa fever pathogenesis in humans and relevant animal models. Advancing knowledge significantly improves our understanding of Lassa virus biology, as well as of the mechanisms that allow the virus to evade the host’s immune system. However, further investigations are required in order to design improved diagnostic tools, an effective vaccine, and therapeutic agents.

  8. Vaccines against typhoid fever.

    Science.gov (United States)

    Guzman, Carlos A; Borsutzky, Stefan; Griot-Wenk, Monika; Metcalfe, Ian C; Pearman, Jon; Collioud, Andre; Favre, Didier; Dietrich, Guido

    2006-05-01

    Because of high infectivity and significant disease burden, typhoid fever constitutes a major global health problem. Implementation of adequate food handling practices and establishment of safe water supplies are the cornerstone for the development of an effective prevention program. However, vaccination against typhoid fever remains an essential tool for the effective management of this disease. Currently, there are two well tolerated and effective licensed vaccines. One is based on defined subunit virulence (Vi) polysaccharide antigen and can be administered either intramuscularly or subcutaneously and the other is based on the use of live attenuated bacteria for oral administration. The advantages and disadvantages of the various approaches taken in the development of a vaccine against typhoid fever are discussed, along with the potential for future vaccine candidates.

  9. [Acute fever in children].

    Science.gov (United States)

    Gras-Le Guen, Christèle; Launay, Élise

    2015-05-01

    Fever in children is a very common symptom associated most of the time with a viral infection. However, in 7% of children, fever without source is the first symptom of a serious bacterial infection such as pneumonia, meningitis, pyelonephritis or bacteremia. The key point in clinical examination of these children is the early identification of toxic signs. Because SBI prevalence is higher in very young children (1-3 month-aged), they required a specific management with some systematic complementary investigations and a broad indication of probabilistic antibiotherapy treatment.

  10. [Fever of unknown origin].

    Science.gov (United States)

    Salzberger, B; Müller-Schilling, M; Fleck, M

    2013-04-01

    Fever of unknown origin (FUO) is defined as sustained unexplained fever despite intensive diagnostic evaluation and represents a particular diagnostic challenge. It can be classified into different categories, e.g. classical, nosocomial, neutropenic and HIV-associated FUO, which is based on the patient-specific clinical and immunological situation. Infections, malignant diseases and non-infectious inflammatory diseases have to be considered as the most important causes of FUO; however, no definitive diagnosis can be established in a substantial number of FUO patients despite an extensive diagnostic work-up. The present review focuses on the important diagnostic aspects as well as therapeutic options in FUO patients.

  11. Marburg Hemorrhagic Fever (Marburg HF)

    Science.gov (United States)

    ... CDC Cancel Submit Search The CDC Marburg hemorrhagic fever (Marburg HF) Note: Javascript is disabled or is ... first recognized in 1967, when outbreaks of hemorrhagic fever occurred simultaneously in laboratories in Marburg and Frankfurt, ...

  12. Crimean-Congo Haemorrhagic Fever

    Science.gov (United States)

    ... Questions & answers Features Multimedia Contacts Crimean-Congo haemorrhagic fever Fact sheet N°208 January 2013 Key facts ... the principal tick vector. The Crimean-Congo haemorrhagic fever virus in animals and ticks The hosts of ...

  13. Typhoid Fever, Below the Belt

    National Research Council Canada - National Science Library

    Raveendran, Kamakshi Mahadevan; Viswanathan, Stalin

    2016-01-01

    ... (sexually transmitted infections) aetiologies. Typhoid fever is endemic in the tropics. Except "rose spots", skin manifestations in typhoid fever are unusual, and they are missed due to pigmented skin...

  14. Q Fever: Statistics and Epidemiology

    Science.gov (United States)

    ... Statistics Reporting and In-Depth Information Other Ricketssial Zoonosis Diseases Anaplasmosis Ehrlichiosis Other Spotted Fever Rocky Mountain ... 60–64 years. Top of Page Other Ricketssial Zoonosis Diseases Anaplasmosis Ehrlichiosis Other Spotted Fever Rocky Mountain ...

  15. Familial Mediterranean fever in childhood: a single-center experience.

    Science.gov (United States)

    Barut, Kenan; Sahin, Sezgin; Adrovic, Amra; Sinoplu, Ada Bulut; Yucel, Gozde; Pamuk, Gizem; Aydın, Aslı Kirectepe; Dasdemir, Selcuk; Turanlı, Eda Tahir; Buyru, Nur; Kasapcopur, Ozgur

    2017-08-21

    The aim of this study is to present demographic and clinical features, MEFV mutation variations, and treatment response of a large number of pediatric familial Mediterranean fever (FMF) patients from a single tertiary centre. Moreover, we aimed to investigate the current outcome of FMF, namely frequency of amyloidosis in children with FMF. We evaluated 708 FMF patients who were followed up in our clinic and who were under colchicine treatment for at least 6 months. The data were recorded from patient records and also verified by negotiations with patients and parents. The male/female proportion of the cohort was 1.05/1 (n = 362/346). Abdominal pain (89.5%, n = 634) was the most common manifestation of FMF episodes, followed by fever (88.8%, n = 629) and arthritis (40.7%, n = 288). However, arthritis in 23 (8%) of the 288 cases was not self-limited; and they subsequently diagnosed with juvenile idiopathic arthritis in addition to FMF. Homozygote or heterozygote M694V mutation was more frequent in patients with arthritis (63.2%) and chronic arthritis (69.6%) than the whole cohort (53.8%). Erythrocyte sedimentation rate and CRP level were in high levels even during attack-free period in 13.9% (n = 97/697) and 11% (n = 78/670) of the patients, respectively. Proteinuria was found in ten patients (1.4%). Amyloidosis was confirmed by renal biopsy in only two of these cases who were homozygous for M694V and compound heterozygous for M694V/M680I. 47 (6.6%) subjects were considered as colchicine resistant. Homozygote M694V mutation was the most frequent mutation in those resistant cases (63.8%, n = 30), followed by compound heterozygote mutation of M694V/M680I (6.3%, n = 3). Homozygous M694V mutation are still the most frequent mutation and associated with the most severe clinical picture and the worst outcome in Turkish children. M694V genotype seems to be more frequently associated with arthritis as well as with chronic arthritis than other genotypes

  16. Colchicine, Biologic Agents and More for the Treatment of Familial Mediterranean Fever. The Old, the New, and the Rare.

    Science.gov (United States)

    Portincasa, P

    2016-01-01

    Familial Mediterranean Fever (FMF) is a rare autosomal recessive autoinflammatory disorder involving the innate immunity and affecting almost exclusively populations with Mediterranean origin. Clinical features include recurrent episodes of fever, leukocitosis, serositis (peritonitis or pleuritis, arthritis), myalgia or erysipelas-like skin lesions, lasting 12-72 hrs. The MEFV gene mutations on chromosome 16p13.3 encodes the abnormal pyrin (marenostrin), a protein expressed in granulocytes, monocytes, serosal and synovial fibroblasts and involved in the activation of caspase-1 and the processing and release of active pro-inflammatory IL-1β. Since the first report in 1972, maintenance therapy with colchicine, a tricyclic neutral alkaloid, remains the mainstay of treatment in symptomatic FMF patients since it reduces the disease activity and prevents the development of secondary amyloidosis and renal damage. Adjunctive symptomatic therapy to colchicine includes nonsteroideal antinflammatory drugs and corticosteroids. In a small group of colchicine-intolerant or colchicine-resistant FMF patients, alternative treatments must be considered. Evolving experiences have focussed on the potential effectiveness of biologic agents working as TNF-α inhibitors (etanercept, infliximab), IL-1 trap (Rilonacept), IL-1 inhibitors (Anakinra, Canakinumab) and IL-6 receptor antibody (Tocilizumab). Interferon-α and thalidomide have also been employed in FMF patients. Still, clinical trials are mainly uncontrolled and restricted to few cases, thus requiring definitive conclusions. Old, and new treatments are discussed in the rare FMF disease, with the concept that any ideal treatment has to stand the test of time.

  17. Phenotype 2 familial mediterranean fever: evaluation of 22 case series and review of the literature on phenotype 2 FMF.

    Science.gov (United States)

    Altunoğlu, Alpaslan; Erten, Şükran; Canoz, Mujdat Batur; Yuksel, Aydan; Ceylan, Gulay Gulec; Balci, Serdar; Dogan, Hayriye Tatli

    2013-01-01

    Familial Mediterranean fever (FMF) is an autosomal recessive autoimmune disorder characterized by recurrent bouts of fever and serosal inflammation. FMF may be complicated by AA-type amyloidosis, worsening the prognosis, with associated renal failure in some patients. Complication rate varies with race, being as high as 60% in Turks and as low as 2% in Armenians. In a few cases of patients with FMF (phenotype 2), amyloid nephropathy may be the presenting manifestation. This study included 420 patients who were admitted to the Nephrology and Rheumatology Departments of Atatürk Education and Research Hospital with unexplained proteinuria/nephrotic syndrome. The initial screening test for amyloidosis was the presence of significant proteinuria (300 mg/24 h). All MEFV gene exons were screened for causative mutations by direct DNA sequencing to check for any mutations. There were 22 phenotype 2 FMF patients with 27 allelic variants. The most prevalent allelic variants were M694V (10/27, 37%) and E148Q (7/27, 26%). Phenotype 2 FMF is not as rare as it was thought before; this should be kept in mind for all patients with unexplained proteinuria and/or acute phase response in high-risk ethnic groups for FMF.

  18. Q Fever Update, Maritime Canada

    Science.gov (United States)

    Marrie, Thomas J.; Campbell, Nancy; McNeil, Shelly A.; Webster, Duncan

    2008-01-01

    Since the 1990s, reports of Q fever in Nova Scotia, Canada, have declined. Passive surveillance for Q fever in Nova Scotia and its neighboring provinces in eastern Canada indicates that the clinical manifestation of Q fever in the Maritime provinces is pneumonia and that incidence of the disease may fluctuate. PMID:18258080

  19. Fever in acute pulmonary embolism.

    Science.gov (United States)

    Stein, P D; Afzal, A; Henry, J W; Villareal, C G

    2000-01-01

    Although fever has been reported in several case series of acute pulmonary embolism (PE), the extent to which fever may be caused by PE, and not associated disease, has not been adequately sorted out. Clarification of the frequency and severity of fever in acute PE may assist in achieving an accurate clinical impression, and perhaps avoid an inadvertent exclusion of the diagnosis. The purpose of this investigation is to evaluate the extent to which fever is caused by acute PE. Patients participated in the Prospective Investigation of Pulmonary Embolism Diagnosis (PIOPED). Temperature was evaluated among patients with angiographically proven PE. A determination of whether other causes of fever were present was based on a retrospective analysis of discharge summaries, PIOPED summaries, and a computerized list of all discharge diagnoses. Among patients with PE and no other source of fever, fever was present in 43 of 311 patients (14%). Fever in patients with pulmonary hemorrhage or infarction was not more frequent than among those with no pulmonary hemorrhage or infarction, 39 of 267 patients (15%) vs 4 of 44 patients (9%; not significant). Clinical evidence of deep venous thrombosis was often present in patients with PE and otherwise unexplained fever. Low-grade fever is not uncommon in PE, and high fever, although rare, may occur. Fever need not be accompanied by pulmonary hemorrhage or infarction.

  20. Hereditary periodic fever syndromes

    NARCIS (Netherlands)

    McDermott, MF; Frenkel, J

    Hereditary periodic fever syndromes are defined by recurrent attacks of generalised inflammation for which no infectious or auto-immune cause can be identified. For most of these disorders, the molecular basis has recently been elucidated. This has opened the prospect of novel therapeutic

  1. Fever of unknown origin

    NARCIS (Netherlands)

    Mulders-Manders, C.; Simon, A.; Bleeker-Rovers, C.P.

    2015-01-01

    More than 50 years after the first definition of fever of unknown origin (FUO), it still remains a diagnostic challenge. Evaluation starts with the identification of potential diagnostic clues (PDCs), which should guide further investigations. In the absence of PDCs a standardised diagnostic

  2. Breathing Valley Fever

    Centers for Disease Control (CDC) Podcasts

    2014-02-04

    Dr. Duc Vugia, chief of the Infectious Diseases Branch in the California Department of Public Health, discusses Valley Fever.  Created: 2/4/2014 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 2/5/2014.

  3. Lithotrites and postoperative fever

    DEFF Research Database (Denmark)

    Chu, David I; Lipkin, Michael E; Wang, Agnes J

    2013-01-01

    OBJECTIVE: To compare the risks of fever from different lithotrites after percutaneous nephrolithotomy (PNL). MATERIALS AND METHODS: The Clinical Research Office of the Endourological Society (CROES) PNL database is a prospective, multi-institutional, international PNL registry. Of 5,803 total pa...

  4. [Fever without focus and fever of unknown origin in childhood].

    Science.gov (United States)

    Ritz, Nicole

    2013-01-30

    Fever is one of the most common presenting symptoms in children. In the majority of cases the underlying cause is easily diagnosed and if necessary a treatment initiated. In case of absent localising symptoms and signs (fever without a focus) investigations rapidly need to be undertaken in particular in newborns and infants. Persisting daily fever for more than two weeks are called fever of unknown origin. Diagnosis of etiology of fever of unknown origin is challenging. In approximately half of the cases an infectious cause is found; inflammatory and mailgnant diseases account for 5 to 10% of the cases. Despite a systematic and interdisciplinary approach the etiology remains unknown in up to a quarter of cases. This review discusses differential diagnoses, suggested investigations and treatment for fever without a focus and fever of unknown origin.

  5. Wildlife genetics and disease: allozyme evolution in the wild boar (Sus scrofa caused by a swine fever epidemy

    Directory of Open Access Journals (Sweden)

    Schreiber Arnd

    2000-05-01

    Full Text Available Abstract Enzyme polymorphism at 42 loci was compared before and after a major epidemy of swine fever in wild boars from northern Vosges (France. No change was observed in the 38 monomorphic loci, but allele frequencies at the phosphoglucomutase locus PGM-2* changed significantly. Possible causes for this observation are discussed, and it appears that PGM-2 locus could be a genetic marker of resistance to this viral disease.

  6. Anti-IL-1 treatment in familial Mediterranean fever and related amyloidosis.

    Science.gov (United States)

    Özçakar, Z Birsin; Özdel, Semanur; Yılmaz, Songül; Kurt-Şükür, E Didem; Ekim, Mesiha; Yalçınkaya, Fatoş

    2016-02-01

    Colchicine is the standard treatment in familial Mediterranean fever (FMF) patients. New treatment strategies are needed in FMF patients who were unresponsive to colchicine therapy or who had developed amyloidosis. The aim of this study was to present clinical-laboratory features and treatment responses of pediatric FMF patients that were treated with anti-IL-1 therapies. Files of patients who had been followed in our department with diagnosis of FMF were retrospectively evaluated. Patients that have been receiving anti-IL-1 therapies (anakinra or canakinumab) were included to the study. All patients were interpreted with respect to the demographic data, clinical and laboratory features of the disease, genetic analysis of MEFV mutations and treatment responses. Among 330 currently registered FMF patients, 13 patients were included to the study. Seven of them received anti-IL-1 therapy due to colchicine resistance and 6 due to FMF-related amyloidosis (1 of them with nephrotic syndrome, 2 with chronic kidney disease, 3 with renal transplantation). In all treated patients, attacks completely disappeared or decreased in frequency; partial remission occured in nephrotic syndrome patient; and their life quality improved. Anti-IL-1 therapies can be successfully used in colchicine-resistant FMF patients and patients with amyloidosis during childhood and adolescent period without major side effects.

  7. Risk factors for subclinical inflammation in children with Familial Mediterranean fever.

    Science.gov (United States)

    Bayram, Meral Torun; Çankaya, Tufan; Bora, Elçin; Kavukçu, Salih; Ülgenalp, Ayfer; Soylu, Alper; Türkmen, Mehmet

    2015-08-01

    Familial Mediterranean fever (FMF) is the most common autosomal recessive inherited inflammatory disease characterized by attacks of painful inflammation. Some patients with FMF have subclinical inflammation persisting between the attacks. We aimed to identify the demographic, clinical and genetic risk factors for subclinical inflammation in children with FMF. The medical records of the children with FMF were evaluated retrospectively for acute-phase response along with gender, age at the onset of symptoms and at the time of diagnosis, clinical signs and symptoms, the presence of amyloidosis and MEFV genotype. Patients with persistently elevated acute-phase response between the attacks were considered to have subclinical inflammation. Patients with or without subclinical inflammation (Group 1 and Group 2, respectively) were compared for the parameters defined above. Independent risk factors for subclinical inflammation were identified by multivariate logistic regression analysis. There were 105 children (male/female: 52/53) who were compliant on colchicine treatment. Subclinical inflammation was detected in 22 (20 %) patients. Group 1 had significantly higher rate of myalgia, arthritis/arthralgia, erysipelas like erythema, amyloidosis, protracted febrile myalgia and M694V mutation compared with Group 2. However, only the presence of myalgia and erysipelas like erythema were found to be independent risk factors for subclinical inflammation (OR 9.8 and 5.9, respectively). Children with FMF who have myalgia and erysipelas like erythema during the attacks are particularly at risk of ongoing inflammation and should be closely monitored for subclinical inflammation even during attack-free periods.

  8. Diagnosis delay in familial Mediterranean fever (FMF): social and gender gaps disclosed.

    Science.gov (United States)

    Lidar, M; Tokov, I; Chetrit, A; Zaks, N; Langevitz, P; Livneh, A

    2005-01-01

    To characterize the factors contributing to a greater than 10 year delay in the diagnosis of familial Mediterranean fever (FMF). 50 patients, in whom diagnosis of FMF was delayed by more than 10 years, comprised the study population. The clinical, demographic and molecular genetic characteristics were compared to a control group of 50 FMF patients, in whom the diagnosis was made within a reasonable time period (less than 5 years from onset). Additional factors contributing to a delayed diagnosis in the study group, including physician-related factors, patient-related factors, disease-factors and other factors, were studied as well. Overall, attack sites, duration and severity were comparable among study and control groups. No differences in ethnic origin or family history of FMF were noted between the groups. There were significantly more females (p = 0.009), newly-arrived immigrants (p = 0.005) and carriers of unidentified MEFV mutations (p = 0.04) in the study group. Delayed diagnosis of FMF stemmed from misdiagnosis and physician negligence (70%), as well as from patient negligence (70%). The diagnosis was ultimately made mainly due to a change in disease pattern and other causes, such as diagnosis of FMF in a relative. The study unveils unexpected causes behind a prolonged delay in the diagnosis of FMF such as social status (immigrant), female gender, physician negligence and lack of patient awareness. The possibility that the delay stems from a milder disease pattern was dismissed.

  9. The expanded clinical profile and the efficacy of colchicine therapy in Egyptian children suffering from familial Mediterranean fever: a descriptive study.

    Science.gov (United States)

    Talaat, Hala Salah El-Din; Mohamed, Mohamed Farouk; El Rifai, Nihal Mohamed; Gomaa, Mohamed Ali

    2012-12-04

    Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by self-limiting recurrent attacks of fever and serosal inflammation, leading to abdominal, thoracic or articular pain. To detect variable clinical presentations and genotypic distribution of different groups of FMF patients and the efficacy of colchicine therapy in treatment of these groups of FMF after one year. A cross-sectional study was conducted on 70 patients already diagnosed with FMF and following-up at the Rheumatology Clinic, Children's Hospital - Cairo University. Diagnosis of FMF was determined according to Tel Hashomer criteria for FMF. All patients were subjected to a questionnaire including detailed history with emphasis on clinical manifestations and colchicine dose to control attacks. Mutational analysis was performed for all study subjects covering 12 mutations in the MEFV gene: E148Q, P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S and R761H. Response to colchicine treatment was evaluated as complete, incomplete and unresponsive. Out of the 70 patients- 40 males and 30 females- fever was the most common presenting feature, followed by abdominal pain, and arthritis; documented in 95.7%, 94.3%, and 77.1% of cases respectively. Mutational analysis detected gene mutation on both alleles in 20 patients (homozygotes), on only 1 allele in 40 patients (heterozygotes), and on none of the alleles (uncharacterized cases). Mild to moderate disease severity score (according to Tel Hashomer key to severity score) was detected in a significant proportion of heterozygotes and the uncharacterized group than the homozygotes. All patients received colchicine therapy; 22.9% of them showed complete response, 74.3% showed incomplete response and 2.9% showed no response to therapy. The colchicine dose needed to control attacks was significantly lower in heterozygotes than the homozygotes(P=0.04). Also patients' response to colchicine therapy was

  10. Fever of unknown origin.

    Science.gov (United States)

    Mulders-Manders, Catharina; Simon, Anna; Bleeker-Rovers, Chantal

    2015-06-01

    More than 50 years after the first definition of fever of unknown origin (FUO), it still remains a diagnostic challenge. Evaluation starts with the identification of potential diagnostic clues (PDCs), which should guide further investigations. In the absence of PDCs a standardised diagnostic protocol should be followed with PET-CT as the imaging technique of first choice. Even with a standardised protocol, in a large proportion of patients from western countries the cause for FUO cannot be identified. The treatment of FUO is guided by the final diagnosis, but when no cause is found, antipyretic drugs can be prescribed. Corticosteroids should be avoided in the absence of a diagnosis, especially at an early stage. The prognosis of FUO is determined by the underlying cause. The majority of patients with unexplained FUO will eventually show spontaneous remission of fever. We describe the definition, diagnostic workup, causes and treatment of FUO. © Royal College of Physicians 2015. All rights reserved.

  11. Ebola haemorrhagic fever

    Science.gov (United States)

    Feldmann, Heinz; Geisbert, Thomas W

    2012-01-01

    Ebola viruses are the causative agents of a severe form of viral haemorrhagic fever in man, designated Ebola haemorrhagic fever, and are endemic in regions of central Africa. The exception is the species Reston Ebola virus, which has not been associated with human disease and is found in the Philippines. Ebola virus constitutes an important local public health threat in Africa, with a worldwide effect through imported infections and through the fear of misuse for biological terrorism. Ebola virus is thought to also have a detrimental effect on the great ape population in Africa. Case-fatality rates of the African species in man are as high as 90%, with no prophylaxis or treatment available. Ebola virus infections are characterised by immune suppression and a systemic inflammatory response that causes impairment of the vascular, coagulation, and immune systems, leading to multiorgan failure and shock, and thus, in some ways, resembling septic shock. PMID:21084112

  12. Korean Hemorrhagic Fever.

    Science.gov (United States)

    1981-03-31

    infectious virus was present in this organ at least 440 days after infection. Virus was recovered from kidney and parotid glands from about 15 to 43...beginning 10-15 days after inoculation. This type of host response provides excellent experimental evidence confirming the long-held epidemiological ...30. Vasyuta, Yu, S. The epidemiology of haemorrhagic fever with renal syndrome in the E.S.F.S.R.Zh. Mikrobiol. Epidemiol. Immunol., 32: 49-56, 1961. 31

  13. Understanding rheumatic fever.

    Science.gov (United States)

    Azevedo, Pedro Ming; Pereira, Rosa Rodrigues; Guilherme, Luiza

    2012-05-01

    Through a comprehensive review of the recent findings on rheumatic fever, we intend to propose a new physiopathologic model for this disease. A Medline search was performed for all articles containing the terms rheumatic fever or rheumatic heart disease in title or abstract from 1970 to 2011. Best evidence qualitative technique was used to select the most relevant. The scientific interest on rheumatic fever has notably diminished throughout the twentieth century as evidenced by the comparison of the proportion of articles in which RF was a subject in 1950 (0.26%) and today (0.03%) [Pubmed]. However, RF remains a major medical and social problem in the developing world and in the so-called hotspots, where it still causes around 500.000 deaths each year, not too different from the pre-antibiotic era. The role of genetic factors in RF susceptibility is discussed. Familiar aggregation, similarity of disease patterns between siblings, identical twin, and HLA correlation studies are evidence for a genetic influence on RF susceptibility. The suspect-involved genes fall mainly into those capable of immunologic mediation. Molecular mimicry explains the triggering of RF, but an intense and sustained inflammation is needed to cause sequels. Also, RF patients vary greatly in terms of symptoms. It is likely that a genetic background directing immune response towards a predominantly Th1 or Th2 pattern contributes to these features. The recent findings on rheumatic fever provide important insight on its physiopathology that helps understanding this prototype post-infectious autoimmune disease giving insights on other autoimmune conditions.

  14. A Q fever case mimicking crimean-congo haemorrhagic fever

    Directory of Open Access Journals (Sweden)

    O Karabay

    2011-01-01

    Full Text Available Coxiella burnetii is the bacterium that causes Q fever. Human infection is mainly transmitted from cattle, goats and sheep. The disease is usually self-limited. Pneumonia and hepatitis are the most common clinical manifestations. In this study, we present a case of Q fever from the western part of Turkey mimicking Crimean-Congo haemorrhagic fever (CCHF in terms of clinical and laboratory findings.

  15. Familial Mediterranean fever (FMF)-associated amyloidosis in childhood. Clinical features, course and outcome.

    Science.gov (United States)

    Cakar, N; Yalçinkaya, F; Ozkaya, N; Tekin, M; Akar, N; Koçak, H; Misirlioğlu, M; Akar, E; Tümer, N

    2001-01-01

    Familial Mediterranean fever (FMF) is an autosomal recessive disorder of childhood characterized by attacks of fever and serositis. Renal amyloidosis is the most important complication of the disease that determines the prognosis. Forty-eight Turkish FMF patients with amyloidosis who have been followed at the two hospitals in Ankara were included in this study. All patients with amyloidosis had been symptomatic for FMF at the time of the diagnosis (Phenotype I), none had received regular colchicine therapy and all presented with proteinuria. Ten of them had asymptomatic proteinuria; 38 had nephrotic syndrome and 8 of them had renal insufficiency (CRI) as well, at the time of the diagnosis. Regular colchicine therapy was commenced to all of the patients. At the end of observation period of 4.5 +/- 2.23 years (range 2-12 yrs) on treatment, nephrotic syndrome resolved in 13 patients and proteinuria was lost in 5 of them. None but 2 of the patients who were diagnosed at proteinuric stage progressed to end stage renal failure (ESRF). Seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) were systematically investigated in 32 patients. Six of the seven studied mutations were found in these patients and clinical diagnosis was confirmed by mutation analysis in 24 patients. Eight patients were found to have mutations on one of the alleles. Amyloidosis is the most serious complication of FMF. Colchicine treatment ameliorates the progression of renal disease in the patients who presented with proteinuria and even with nephrotic syndrome. No correlation between the outcome of the patients with nephrotic syndrome and the degree of proteinuria and/or serum albumin levels at the initiation of treatment were noted. Progression to ESRF seems inevitable despite colchicine therapy after the development of CRI in patients with FMF associated amyloidosis.

  16. Pulmonary Necrotizing Granulomas in a patient with familial mediterranean fever.

    Science.gov (United States)

    Kushima, Hisako; Ishii, Hiroshi; Ishii, Koji; Kadota, Jun-ichi

    2015-09-01

    We herein report a case of familial Mediterranean fever (FMF) presenting with granulomatous lung lesions with neuronal apoptosis inhibitory protein (NAIP), MHC class II transcription activator (CIITA), incompatibility locus protein from Podospora anserina (HET-E), and telomerase-associated protein (TP1) (NACHT) leucine-rich-repeat 1-positive inflammatory cell infiltrates. FMF is an autoinflammatory disorder characterized by recurrent and self-limited attacks of pyrexia, arthritis and erysipelas-like skin lesions. Lung disorders associated with FMF are extremely rare. This is the first report of an immunologically-confirmed case of pulmonary manifestations of this disease.

  17. Coherent states and geodesics cut locus and conjugate locus

    CERN Document Server

    Berceanu, S

    1997-01-01

    The intimate relationship between coherent states and geodesics is pointed out. For homogenous manifolds on which the exponential from the Lie algebra to the Lie group equals the geodesic exponential, and in particular for symmetric spaces, it is proved that the cut locus of the point $0$ is equal to the set of coherent vectors orthogonal to $\\vert 0>$. A simple method to calculate the conjugate locus in Hermitian symmetric spaces with significance in the coherent state approach is presented. The results are illustrated on the complex Grassmann manifold.

  18. Sadfly fever: two case reports.

    Science.gov (United States)

    Özkale, Yasemin; Özkale, Murat; Kiper, Pinar; Çetinkaya, Bilin; Erol, İlknur

    2016-06-01

    Sandfly fever, also known as 'three-day fever' or 'pappataci fever' or 'Phlebotomus fever' is a viral infection that causes self-limited influenza-like symptoms and characterized by a rapid onset. The disease occurs commonly in endemic areas in summer months and especially in August during which sandflies are active. In this article, two siblings who presented with high fever, redness in the eyes, headache, weakness, malaise and inability to walk, who were found to have increased liver function tests and creatine kinase levels and who were diagnosed with sadfly fever with positive sadfly IgM and IgG antibodies are reported because of the rarity of this disease.

  19. Chikungunya fever presenting with protracted severe pruritus.

    Science.gov (United States)

    Cunha, Burke A; Leonichev, Victoria B; Raza, Muhammad

    2016-01-01

    Travelers returning from the tropics often present with rash/fever. Those with rash/fever and myalgias/arthralgias are most likely due to chikungunya fever, dengue fever, or Zika virus. In these arthropod viral transmitted infections, the rash may be pruritic. The case presented here is that of chikungunya fever remarkable for the intensity and duration of her pruritis.

  20. Typhoid Fever, Below the Belt.

    Science.gov (United States)

    Raveendran, Kamakshi Mahadevan; Viswanathan, Stalin

    2016-01-01

    Genital ulcers occur due to infective, inflammatory, malignant and drug-related causes. In tropical countries such as India, such ulcers are due to parasitic, tubercular, rickettsial and bacterial (sexually transmitted infections) aetiologies. Typhoid fever is endemic in the tropics. Except "rose spots", skin manifestations in typhoid fever are unusual, and they are missed due to pigmented skin. Patients do not often complain of genital ulcers due to shame or fear. Genital examination is not routinely performed in typhoid fever. We describe scrotal ulcers as the presenting symptom of typhoid fever, which subsided with appropriate therapy.

  1. Fever in the pediatric patient.

    Science.gov (United States)

    Wing, Robyn; Dor, Maya R; McQuilkin, Patricia A

    2013-11-01

    Fever is the most common reason that children and infants are brought to emergency departments. Emergency physicians face the challenge of quickly distinguishing benign from life-threatening conditions. The management of fever in children is guided by the patient's age, immunization status, and immune status as well as the results of a careful physical examination and appropriate laboratory tests and radiographic views. In this article, the evaluation and treatment of children with fevers of known and unknown origin are described. Causes of common and dangerous conditions that include fever in their manifestation are also discussed. Copyright © 2013 Elsevier Inc. All rights reserved.

  2. The effect of plasminogen activator inhibitor-1 -675 4G/5G polymorphism on familial Mediterranean fever (FMF) disease.

    Science.gov (United States)

    Ozel Demiralp, Duygu; Ekim, Mesiha; Akar, Nejat

    2009-01-01

    Familial Mediterranean fever (FMF) is an autosomal recessive disease that is the most common of a rare group of disorders collectively termed familial hereditary periodic fever syndromes, also known as autoinflammatory syndromes. FMF is predominantly affecting people of Mediterranean descent and clinically characterized by intermittent attacks of fever with peritonitis and abdominal pain, pleuritis, arthritis, or erysipelas-like rashes. Amyloidosis due to chronic inflammation progressing to renal failure is one of the most serious potential complications of this disease.Patients with inflammatory diseases, such as systemic lupus erythematosus and rheumatoid arthritis, and conditions with chronic subclinical inflammation, like obesity and diabetes mellitus, are now considered to have an increased risk of atherosclerotic cardiovascular complications. FMF is also an inflammatory disease, and it is accepted that even during attack-free periods significant inflammatory reaction continues. However, whether this inflammatory process causes premature atherosclerosis is not known due to a lack of data.Different studies have investigated the association between the fibrinolytic and inflammatory process parameters. PAI-1 is paracrine secretion of pro- and antiinflammatory cytokines, thereby playing a possible role in the adiposity-related inflammation and atherosclerosis. The patients with IRS have higher values of fibrinogen, factor VII, VIII, Von Willebrand factor and Plasminogen Activator Inhibitor (PAI) compared to control subjects. So that we aimed in this study to investigate whether FMF patients with/without amyloidosis and with M694V homozygote mutation, have increased risk for atherosclerotic cardiovascular complications and to determine the strength of association between MEFV gene-mutation types. To our knowledge, this is the first case control and cross-sectional study in the pediatric age groups.

  3. Familial Mediterranean fever gene mutations in the inner northern region of Turkey and genotype-phenotype correlation in children.

    Science.gov (United States)

    Yilmaz, Resul; Ozer, Samet; Ozyurt, Huseyin; Erkorkmaz, Unal; Sahin, Semsettin

    2009-11-01

    Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterised by recurrent episodes of fever, polyserositis and rash. The aim of this study was to determine the most common mutations and clinical features, and their relationships. The medical records of 78 patients were evaluated retrospectively. All of the patients had been diagnosed with FMF according to Tel Hashomer criteria between January 2005 and May 2008 in general paediatric clinics of the School of Medicine at Gaziosmanpasa University. Twelve mutations were detected in the 78 patients by polymerase chain reaction-enzyme-linked immunosorbent assay. The patients were classified into three groups according to allele status. The most prominent clinical symptoms were abdominal pain (95%), fever (90%), arthritis (33%) and pleuritis (31%). Seventeen different genotypes were identified. The mutations were homozygous in 25 (32%) patients, compound heterozygous in 28 (36%) patients and heterozygous in 22 (28%) patients. No mutation was detected in three (4%) patients. The most frequent mutations were M694V (55%), M680I (16%), E148Q (10%) and P369S (4%). The mean symptom severity score was highest in the homozygous group, and high levels of C-reactive protein were also detected in this group. In addition to clinical criteria, molecular studies for detecting disease-causing mutations are needed to establish the diagnosis of FMF. FMF patients who were homozygous for MEFV gene mutations had a higher symptom severity score and higher incidence of appendectomy. The broad spectrum of mutations may reflect intercultural interactions of ethnic groups in Anatolia. Nation-wide studies may help to determine the relationships among demographic, clinical and genetic features of FMF.

  4. [Study on preferred retinal locus].

    Science.gov (United States)

    Dai, Bing-Fa; Hu, Jian-Min; Xu, Duan-Lian

    2012-03-01

    Preferred retinal locus (PRL) is always found in the age-related macular degeneration and other macular damages in patients with low vision, and it is a very important anatomic position in patients with central vision impairment to achieve the rehabilitation. In recent years, the training of preferred retinal locus (PRL) has become a research hotspot of low vision rehabilitation, it can clearly improve functional vision and quality of life. The authors reviewed relevant literatures, and summarized the definition, position, characteristics, training and clinical implications of the PRL.

  5. Familial Mediterranean fever in Russia: Experience of the Federal Rheumatology Center

    Directory of Open Access Journals (Sweden)

    E. S. Fedorov

    2017-01-01

    Full Text Available The paper gives the experience of the V.A. Nasonova Research Institute of Rheumatology in identifying and managing patients with familial Mediterranean fever (FMF. Objective: to describe the features of the disease in patients with FMF in Russia and to compare them with the data obtained in the study of Turkish and Armenian populations with a high incidence of this disease. Patients and methods. The investigation enrolled 23 patients with a documented diagnosis of FMF who met the Turkish pediatric criteria (F. Yalcinkaya et al. and/or the criteria described by A. Livnech et al. and had two identical mutations (homozygosity or two different mutations (compound heterozygosity in the MEFV gene. Among the patients there were 9 men and 14 women. The age of the patients at the time of treatment was 4.5 to 36 years. Their age at onset of FMF was 2 months to 15 years (mean age, 3.2±2.3 years. Results. The examination established that 18 (78.3% patients were Armenians, 3 were representatives of the North Caucasus peoples (a Darghin woman, an Avar man, and an Ingush/Kabardian man, a man from mixed (Greek/Georgian marriage, and a Russian woman whose ancestors were Armenian and Jewish. The most common manifestation of FMF were recurrent episodes of fever (22; 95.7%; abdominal pain with fever ranked second (19; 82.6%, followed by chest pain (11; 47.8%, locomotor apparatus lesion (16; 69.6%, and skin lesions (7; 30.4%. The episodes were accompanied by increased levels of acutephase markers in 100% of the patients. There were a high proportion of patients, in whom FMF was concurrent with other rheumatic and autoinflammatory diseases (juvenile chronic arthritis, chronic recurrent multifocal osteomyelitis, and acute rheumatic fever (7; 30.4%. Twenty-two (95.6% patients received colchicine; the tumor necrosis factor inhibitor etanercept was prescribed in 2 (8.7% patients with comorbidity; there was a pronounced therapeutic effect. Conclusion. Although the

  6. Fever's glass ceiling.

    Science.gov (United States)

    Mackowiak, P A; Boulant, J A

    1996-03-01

    The importance of an upper limit of the febrile response has been recognized since the time of Hippocrates. Although the precise temperature defining this limit varies according to the site at which body temperature is measured, human core temperature is almost never permitted to rise above 41 degrees C-42 degrees C during fever. There are compelling physiological reasons for such an upper limit of regulated body temperature. The mechanisms by which the limit is maintained are most likely complex and involve special properties of thermoregulatory neurons themselves, circulating endogenous antipyretics (such as arginine vasopressin and alpha-melanocyte-stimulating hormone), and soluble receptors for the (pyrogenic) cytokine mediators of the febrile response.

  7. Familial Mediterranean Fever (FMF

    Directory of Open Access Journals (Sweden)

    Onur Albayrak

    2009-08-01

    Full Text Available Familial Mediterranean Fever (FMF is an autosomal recessive genetic disease that affects males and females. FMF gene is on the short arm of chromosome 16. It is most often found in Jews, Arabs, Turks, and Armenians. Amyloidosis is charecterized by the deposition of a particular protein between the cells in the tissue. It is a potentially serious complication of FMF. The kidney is a prime target for the amyloid. [Archives Medical Review Journal 2009; 18(4.000: 260-267

  8. Ebola hemorrhagic Fever.

    Science.gov (United States)

    Burnett, Mark W

    2014-01-01

    Ebola hemorrhagic fever is an often-fatal disease caused by a virus of the Filoviridae family, genus Ebolavirus. Initial signs and symptoms of the disease are nonspecific, often progressing on to a severe hemorrhagic illness. Special Operations Forces Medical Providers should be aware of this disease, which occurs in sporadic outbreaks throughout Africa. Treatment at the present time is mainly supportive. Special care should be taken to prevent contact with bodily fluids of those infected, which can transmit the virus to caregivers. 2014.

  9. Hemorrhagic Fever with Renal Syndrome (HFRS)

    Science.gov (United States)

    ... this page: About CDC.gov . Share Compartir Hemorrhagic Fever with Renal Syndrome (HFRS) On this Page What ... is HFRS prevented? Suggested Reading What is hemorrhagic fever with renal syndrome? Hemorrhagic fever with renal syndrome ( ...

  10. What about My Child and Rheumatic Fever?

    Science.gov (United States)

    ... Cardiovascular Conditions What About My Child and Rheumatic Fever? Rheumatic fever is an inflammatory reaction that can occur after ... strep throat infections don’t lead to rheumatic fever. When they do, the time between the strep ...

  11. Genetics Home Reference: familial Mediterranean fever

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions familial Mediterranean fever familial Mediterranean fever Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Familial Mediterranean fever is an inherited condition characterized by recurrent episodes ...

  12. Travelers' Health: Typhoid and Paratyphoid Fever

    Science.gov (United States)

    ... in an Area with Zika? Find a Clinic Yellow Fever Vaccinations Clinics FAQ Disease Directory Resources Resources for ... CE Courses and Training Presentations for Health Professionals Yellow Fever Vaccine Course About the Yellow Fever Vaccine Course ...

  13. Dengue fever presenting as acute acalculus cholecystitis.

    Science.gov (United States)

    Joshipura, Vismit P; Soni, Harshad N; Patel, Nitin R; Haribhakti, Sanjiv P

    2007-06-01

    Classically dengue fever presents as fever with myalgia. A patient of dengue fever presented with classical symptoms and signs of acute acalculous cholecystitis. Serology and ultrasound examination identified dengue as the aetiology. Patient was treated successfully by conservative measures.

  14. Mayaro fever virus, Brazilian Amazon.

    Science.gov (United States)

    Azevedo, Raimunda S S; Silva, Eliana V P; Carvalho, Valéria L; Rodrigues, Sueli G; Nunes-Neto, Joaquim P; Monteiro, Hamilton; Peixoto, Victor S; Chiang, Jannifer O; Nunes, Márcio R T; Vasconcelos, Pedro F C

    2009-11-01

    In February 2008, a Mayaro fever virus (MAYV) outbreak occurred in a settlement in Santa Barbara municipality, northern Brazil. Patients had rash, fever, and severe arthralgia lasting up to 7 days. Immunoglobulin M against MAYV was detected by ELISA in 36 persons; 3 MAYV isolates sequenced were characterized as genotype D.

  15. Mayaro Fever Virus, Brazilian Amazon

    Science.gov (United States)

    Azevedo, Raimunda S.S.; Silva, Eliana V.P.; Carvalho, Valéria L.; Rodrigues, Sueli G.; Neto, Joaquim P. Nunes; Monteiro, Hamilton A.O.; Peixoto, Victor S.; Chiang, Jannifer O.; Nunes, Márcio R.T.

    2009-01-01

    In February 2008, a Mayaro fever virus (MAYV) outbreak occurred in a settlement in Santa Barbara municipality, northern Brazil. Patients had rash, fever, and severe arthralgia lasting up to 7 days. Immunoglobulin M against MAYV was detected by ELISA in 36 persons; 3 MAYV isolates sequenced were characterized as genotype D. PMID:19891877

  16. Q fever: The Dutch Policy

    NARCIS (Netherlands)

    Bruschke, C.J.M.; Roest, H.I.J.; Coutinho, R.A.

    2016-01-01

    Between 2007 and 2010, the Netherlands experienced an unprecedented outbreak of Q fever of more than 4000 human cases. Q fever infections of dairy goats, leading to abortion waves, were considered to be the cause of this outbreak. Measures to combat the outbreak had to be taken based on limited scie

  17. Febre amarela Yellow fever

    Directory of Open Access Journals (Sweden)

    Pedro Fernando da Costa Vasconcelos

    2003-04-01

    Full Text Available A febre amarela é doenca infecciosa não-contagiosa causada por um arbovírus mantido em ciclos silvestres em que macacos atuam como hospedeiros amplificadores e mosquitos dos gêneros Aedes na África, e Haemagogus e Sabethes na América, são os transmissores. Cerca de 90% dos casos da doença apresentam-se com formas clínicas benignas que evoluem para a cura, enquanto 10% desenvolvem quadros dramáticos com mortalidade em torno de 50%. O problema mostra-se mais grave em África onde ainda há casos urbanos. Nas Américas, no período de 1970-2001, descreveram-se 4.543 casos. Os países que mais diagnosticaram a doença foram o Peru (51,5%, a Bolívia (20,1% e o Brasil (18,7%. Os métodos diagnósticos utilizados incluem a sorologia (IgM, isolamento viral, imunohistoquímica e RT-PCR. A zoonose não pode ser erradicada, mas, a doença humana é prevenível mediante a vacinação com a amostra 17D do vírus amarílico. A OMS recomenda nova vacinação a cada 10 anos. Neste artigo são revistos os principais conceitos da doença e os casos de mortes associados à vacina.Yellow fever is an infectious and non-contagious disease caused by an arbovirus, the yellow fever virus. The agent is maintained in jungle cycles among primates as vertebrate hosts and mosquitoes, especially Aedes in Africa, and Haemagogus and Sabethes in America. Approximately 90% of the infections are mild or asymptomatic, while 10% course to a severe clinical picture with 50% case-fatality rate. Yellow fever is largely distributed in Africa where urban epidemics are still reported. In South America, between 1970-2001, 4,543 cases were reported, mostly from Peru (51.5%, Bolivia (20.1% and Brazil (18.7%. The disease is diagnosed by serology (detection of IgM, virus isolation, immunohistochemistry and RT-PCR. Yellow fever is a zoonosis and cannot be eradicated, but it is preventable in man by using the 17D vaccine. A single dose is enough to protect an individual for at least

  18. Locus of Control and Interpersonal Attraction.

    Science.gov (United States)

    Fagan, M. Michael

    1980-01-01

    The role of locus of control in interpersonal attraction was examined by administering 1) the Nowicki-Strickland Locus of Control Scale and 2) a sociometric test of friendship to 200 eighth graders. (CM)

  19. Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children.

    Science.gov (United States)

    Ozen, Seza; Demirkaya, Erkan; Amaryan, Gayane; Koné-Paut, Isabelle; Polat, Adem; Woo, Pat; Uziel, Yosef; Modesto, Consuelo; Finetti, Martina; Quartier, Pierre; Papadopoulou-Alataki, Efimia; Al-Mayouf, Sulaiman M; Fabio, Giovanna; Gallizzi, Romina; Cantarini, Luca; Frenkel, Joost; Nielsen, Susan; Hofer, Michael; Insalaco, Antonella; Acikel, C; Ozdogan, Huri; Martini, Alberto; Ruperto, Nicolino; Gattorno, Marco

    2014-04-01

    Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations of the MEFV gene. We analyse the impact of ethnic, environmental and genetic factors on the severity of disease presentation in a large international registry. Demographic, genetic and clinical data from validated paediatric FMF patients enrolled in the Eurofever registry were analysed. Three subgroups were considered: (i) patients living in the eastern Mediterranean countries; (ii) patients with an eastern Mediterranean ancestry living in western Europe; (iii) Caucasian patients living in western European countries. A score for disease severity at presentation was elaborated. Since November 2009, 346 FMF paediatric patients were enrolled in the Eurofever registry. The genetic and demographic features (ethnicity, age of onset, age at diagnosis) were similar among eastern Mediterranean patients whether they lived in their countries or western European countries. European patients had a lower frequency of the high penetrance M694V mutation and a significant delay of diagnosis (pMediterranean countries had a higher frequency of fever episodes/year and more frequent arthritis, pericarditis, chest pain, abdominal pain and vomiting compared to the other two groups. Multivariate analysis showed that the variables independently associated with severity of disease presentation were country of residence, presence of M694V mutation and positive family history. Eastern Mediterranean FMF patients have a milder disease phenotype once they migrate to Europe, reflecting the effect of environment on the expression of a monogenic disease.

  20. Yellow Fever Vaccine: What You Need to Know

    Science.gov (United States)

    ... www. immunize. org/ vis 1 What is yellow fever? Yellow fever is a serious disease caused by the ... serious cases) 2 How can I prevent yellow fever? Yellow fever vaccine Yellow fever vaccine can prevent yellow ...

  1. ETIOLOGY OF YELLOW FEVER

    Science.gov (United States)

    Noguchi, Hideyo

    1922-01-01

    Analysis of the records of instances in which non-immune persons contracted yellow fever notwithstanding vaccination shows that the onset of disease occurs soon after vaccination, the longest period being 13 days. Since the average incubation period in yellow fever is 6 days, it seems that infection must have taken place in some instances during the period while protection was developing. These instances led to a study of the possibility of immediate protection by means of the anti-icteroides serum. It had already been shown that the immune serum protects at once against experimental Leptospira icteroides infection, but it remained to determine how long the protection would last. Guinea pigs were given different quantities of the immune serum and subsequently injected, at various intervals, with a virulent strain of Leptospira icteroides. Complete protection enduring 5 days was obtained with as minute a quantity of serum as 0.002 cc. per 1,000 gm. of body weight. After 5 days, however, the immune substance rapidly diminished, and to keep the animal protected for as long as 10 days it was necessary to give 100 times as much, or 0.2 cc. For a man weighing 80 kilos, 0.16 cc. (0.002 x 80) would theoretically be sufficient to protect for at least 5 days, 1.6 cc. for 7 days, and 16 cc. for 10 days. This temporary protection may be a valuable antecedent to that furnished by vaccination, since the final effect of the latter cannot be expected until at least 9 to 10 days have passed. PMID:19868677

  2. Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC).

    Science.gov (United States)

    Habahbeh, Lana Ayesh; Hiary, Mansour Al; Zaben, Samar F Al; Al-Momani, Asim; Khasawneh, Rame; Mallouh, Mervat Abu; Farahat, Hayab

    2015-12-01

    To describe the spectrum of genetic mutations in patients with clinical diagnosis of Familial Mediterranean Fever. This is a retrospective study of 3359 sera samples for patient with clinical diagnosis of FMF, over a period of 6 years. The samples were tested for 12 mutations of the MEFV gene by PCR& hybridization of the PCR product with Probes immobilized as an array of panel lines. A total of 1868 (55.6%) samples were found negative, and one or more mutations were detected in 1491 (44.4%) distributed along the mutations. Of the positive results, the Frequency of the mutations was as follows, the M694V was the most common mutation 30%, followed by E 148Q 21.5%, V 726 A 20%, M6801 G/C 9%, M6941 8.3%, P369s 3.7%, A744S 3.1% and 4.2% among the 4 remaining mutations. Frequency of common mutations in our study show similar results in comparisons with Mediterranean countries like Egypt, Turkey, and Syria with the most common mutation in our study being M694V followed by E148 Q.

  3. The Pathogenesis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome: A Review of Current Research

    Directory of Open Access Journals (Sweden)

    Barbara Kraszewska-Głomba

    2015-01-01

    Full Text Available Background. PFAPA syndrome is a chronic disease that is characterized by recurrent episodes of high fever, aphthous stomatitis, pharyngitis, and cervical adenitis. Knowledge regarding the etiology of PFAPA is limited. Objectives. To provide up-to-date information considering etiology of PFAPA syndrome, by summarizing what has been explored and established in this area so far. Materials and Methods. PubMed, Web of Science, and Scopus databases were searched for pertinent reports. Eventually 19 articles were selected. The results were classified into categories regarding three areas of interest: familial occurrence, genetic basis, and immunological mechanisms of PFAPA. Results. Recent findings suggest that there is a familial tendency to PFAPA but the level of evidence does not warrant definite conclusions. The absence of a clear monogenic trait indicates a heterogenous, polygenic, or complex inheritance of PFAPA syndrome. As two mutations with a possible functional effect on the inflammasomes (MEFV E148Q and NLRP3 Q703K have been found in several PFAPA cohorts, the role of inflammasome-related genes in PFAPA pathogenesis cannot be excluded. Immunological mechanisms of PFAPA involve an abnormal, IL-1β dependent innate immune response to an environmental trigger, which leads to Th1-driven inflammation expressed by recruitment of T-cells to the periphery.

  4. Speaking rate effects on locus equation slope

    Science.gov (United States)

    Berry, Jeff; Weismer, Gary

    2013-01-01

    A locus equation describes a 1st order regression fit to a scatter of vowel steady-state frequency values predicting vowel onset frequency values. Locus equation coefficients are often interpreted as indices of coarticulation. Speaking rate variations with a constant consonant–vowel form are thought to induce changes in the degree of coarticulation. In the current work, the hypothesis that locus slope is a transparent index of coarticulation is examined through the analysis of acoustic samples of large-scale, nearly continuous variations in speaking rate. Following the methodological conventions for locus equation derivation, data pooled across ten vowels yield locus equation slopes that are mostly consistent with the hypothesis that locus equations vary systematically with coarticulation. Comparable analyses between different four-vowel pools reveal variations in the locus slope range and changes in locus slope sensitivity to rate change. Analyses across rate but within vowels are substantially less consistent with the locus hypothesis. Taken together, these findings suggest that the practice of vowel pooling exerts a non-negligible influence on locus outcomes. Results are discussed within the context of articulatory accounts of locus equations and the effects of speaking rate change. PMID:24535890

  5. Rhombencephalitis associated with Dengue fever.

    Science.gov (United States)

    Verma, Rajesh; Bharti, Kavita; Mehta, Mannan; Bansod, Amrit

    2016-05-01

    Dengue infection is gradually disseminating throughout the world in alarming proportions. It is a arbovirus infection,transmitted by aedes mosquitoes. It is a multi-systemic disorder associated with varied neurological complications. There is increased trend of development of neurological complications in dengue fever. The neurological complications arising due to dengue infection can be categorized into central and neuromuscular complications. The central nervous system disorders reported with dengue fever are encephalopathy,encephalitis and myelitis.Here we report a case of rhombencephalitis associated with dengue fever. The literature does not mention rhombencephalitis occurring with dengue illness.

  6. Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever.

    Science.gov (United States)

    Kilic, Ayse; Varkal, Muhammet Ali; Durmus, Mehmet Sait; Yildiz, Ismail; Yıldırım, Zeynep Nagihan Yürük; Turunc, Gorkem; Oguz, Fatma; Sidal, Mujgan; Omeroglu, Rukiye Eker; Emre, Sevinc; Yilmaz, Yasin; Kelesoglu, Fatih Mehmet; Gencay, Genco Ali; Temurhan, Sonay; Aydin, Filiz; Unuvar, Emin

    2015-12-12

    Familial Mediterranean fever (FMF) is one of the most frequent genetic diseases encountered in the Mediterranean region. We aimed to investigate the correlation between genetic mutations and the clinical findings in 562 patients with FMF. In this retrospective cross-sectional study conducted with patients' files between 2006, and 2013, reverse hybridization assay for MEFV gene mutations was used and the 12 most frequent mutations were screened. Mutation types and clinical findings were compared with variance analysis. The mean age was 6.9 ± 3.4 years (range, 1.8-11.6 years). The most common symptom was fever (97.3%). Thirty-four of the patients (6.04%) were admitted with periodic fever only. Of these patients, M694V was the most common mutation type (73.5%). The percentage of the patients predominantly presenting with recurrent abdominal pain was 77.78% and the most frequent mutations were M694V and E148Q. The rate of arthritis and arthralgia was significantly higher in patients with M694V and E148Q mutations. Chest pain was reported more often in patients homozygous for M694V (61.4%). Pericardial effusion was documented in the echocardiography of 10.9% of the 229 children with chest pain. Some patients had both FMF and Henoch Schönlein purpura (HSP), and were more likely to harbor either homozygote M694V or E148Q mutations. The frequency of episodes was higher in patients with homozygous M694V mutations (number of attacks = 4.4 ± 1.6/month). Proteinuria was detected in 106 patients of cases (29.2%), at an average of 854 ± 145 mg/L. Most of the patients with proteinuria and elevated serum amyloid-A had homozygous M694V mutation. The most common mutation in children in Turkey with FMF is the M694V mutation. Recurrent abdominal pain, arthritis or arthralgia, chest pain, and pericarditis were commonly seen in patients with M694V and E148Q mutations.

  7. Familial mediterranean fever%家族性地中海热

    Institute of Scientific and Technical Information of China (English)

    宋红梅

    2016-01-01

    Familial mediterranean fever (FMF) is a hereditary inflammatory disorder,which caused by mutations in MEFV gene located on short arm of Chromosome 16 p13.3.The majority of patients onset before the age of 10 years,which is characterized clinically by the episodes of inflammatory reaction and serositis,including fever,peritonitis,synovitis and pleurisy.AA-amyloidosis with kidney failure is the most important complication.The children patients were diagnosed mainly on clinical evaluation and the criteria developed by Yal(c)inkaya.The ultimate goal of treatment in FMF is to obtain complete control of unprovoked attacks and minimise subclinical inflammation in between attacks.The only agent that decreases the frequency and severity of the episodes and the development of amyloidosis is colchicine,which should be startcd as soon as a clinical diagnosis is made,alternative biological treatments such as IL-1 receptor antagonist are indicated in patients with non-responders or resistant to colchicine.%家族性地中海热(familial mediterranean fever,FMF)是一种常染色体隐性遗传病,致病基因MEFV位于染色体16p13.3.多数患者在10岁前发病,主要临床表现为反复发作的短暂的炎性反应和浆膜炎,包括发热、腹膜炎、滑膜炎和胸膜炎,肾脏淀粉样变为其最重要的并发症.儿童病例的诊断主要依据Yal(c)inkaya等提出的标准.FMF的治疗目标是控制急性发作和减少亚临床的炎性反应,秋水仙碱能有效治疗FMF,控制或减少发作,同时能预防肾脏淀粉样变的进展,诊断后应尽可能早应用;秋水仙碱无效时可选用IL-1受体拮抗剂等生物制剂.

  8. Discriminating fever behavior in house flies.

    Directory of Open Access Journals (Sweden)

    Robert D Anderson

    Full Text Available Fever has generally been shown to benefit infected hosts. However, fever temperatures also carry costs. While endotherms are able to limit fever costs physiologically, the means by which behavioral thermoregulators constrain these costs are less understood. Here we investigated the behavioral fever response of house flies (Musca domestica L. challenged with different doses of the fungal entomopathogen, Beauveria bassiana. Infected flies invoked a behavioral fever selecting the hottest temperature early in the day and then moving to cooler temperatures as the day progressed. In addition, flies infected with a higher dose of fungus exhibited more intense fever responses. These variable patterns of fever are consistent with the observation that higher fever temperatures had greater impact on fungal growth. The results demonstrate the capacity of insects to modulate the degree and duration of the fever response depending on the severity of the pathogen challenge and in so doing, balance the costs and benefits of fever.

  9. Clinical pathogenesis of typhoid fever

    National Research Council Canada - National Science Library

    Raffatellu, Manuela; Wilson, R Paul; Winter, Sebastian E; Bäumler, Andreas J

    2008-01-01

    ...: gastroenteritis and typhoid fever. Clinical observations suggest that gastroenteritis, caused by non-typhoidal Salmonella serovars, is characterized by a massive neutrophil influx, which keeps the infection localized to the intestinal mucosa...

  10. Q fever in French Guiana.

    Science.gov (United States)

    Eldin, Carole; Mahamat, Aba; Demar, Magalie; Abboud, Philippe; Djossou, Félix; Raoult, Didier

    2014-10-01

    Coxiella burnetii, the causative agent of Q fever, is present worldwide. Recent studies have shown that this bacterium is an emerging pathogen in French Guiana and has a high prevalence (24% of community-acquired pneumonia). In this review, we focus on the peculiar epidemiology of Q fever in French Guiana. We place it in the context of the epidemiology of the disease in the surrounding countries of South America. We also review the clinical features of Q fever in this region, which has severe initial presentation but low mortality rates. These characteristics seem to be linked to a unique genotype (genotype 17). Finally, we discuss the issue of the animal reservoir of C. burnetii in French Guiana, which is still unknown. Further studies are necessary to identify this reservoir. Identification of this reservoir will improve the understanding of the Q fever epidemic in French Guiana and will provide new tools to control this public health problem.

  11. Childhood Fever: parental beliefs and management.

    Science.gov (United States)

    Stephenson, M J; Rosencrantz, A; Kneller, P

    1988-01-01

    Childhood fever is often seen in family-practice. Clinical experience has shown the authors that parental anxiety often initiates early, aggressive treatment of fever with antipyretics. The authors studied parents' beliefs and practices relating to fever control in their children, and who or what their information sources were. The findings indicate that parents are commonly misinformed about the nature of childhood fever and its management, and that physicians need to learn more about conveying information on fever to patients.

  12. Typhoid Fever, Below the Belt

    OpenAIRE

    Raveendran, Kamakshi Mahadevan; Viswanathan, Stalin

    2016-01-01

    Genital ulcers occur due to infective, inflammatory, malignant and drug-related causes. In tropical countries such as India, such ulcers are due to parasitic, tubercular, rickettsial and bacterial (sexually transmitted infections) aetiologies. Typhoid fever is endemic in the tropics. Except “rose spots”, skin manifestations in typhoid fever are unusual, and they are missed due to pigmented skin. Patients do not often complain of genital ulcers due to shame or fear. Genital examination is not ...

  13. Fever, febrile seizures and epilepsy

    OpenAIRE

    2007-01-01

    Seizures induced by fever (febrile seizures) are the most common type of pathological brain activity in infants and children. These febrile seizures and their potential contribution to the mechanisms of limbic (temporal lobe) epilepsy have been a topic of major clinical and scientific interest. Key questions include the mechanisms by which fever generates seizures, the effects of long febrile seizures on neuronal function and the potential contribution of these seizures to epilepsy. This revi...

  14. Treatment of dengue fever

    Directory of Open Access Journals (Sweden)

    Rajapakse S

    2012-07-01

    Full Text Available Senaka Rajapakse,1,2 Chaturaka Rodrigo,1 Anoja Rajapakse31Department of Clinical Medicine, Faculty of Medicine, University of Colombo, Sri Lanka; 2Lincoln County Hospital, United Lincolnshire NHS Trust, Lincoln, UK; 3Kings Mill Hospital, Sherwood Forest NHS Foundation Trust, Mansfield, UKAbstract: The endemic area for dengue fever extends over 60 countries, and approximately 2.5 billion people are at risk of infection. The incidence of dengue has multiplied many times over the last five decades at an alarming rate. In the endemic areas, waves of infection occur in epidemics, with thousands of individuals affected, creating a huge burden on the limited resources of a country's health care system. While the illness passes off as a simple febrile episode in many, a few have a severe illness marked by hypovolemic shock and bleeding. Iatrogenic fluid overload in the management may further complicate the picture. In this severe form dengue can be fatal. Tackling the burden of dengue is impeded by several issues, including a lack of understanding about the exact pathophysiology of the infection, inability to successfully control the vector population, lack of specific therapy against the virus, and the technical difficulties in developing a vaccine. This review provides an overview on the epidemiology, natural history, management strategies, and future directions for research on dengue, including the potential for development of a vaccine.Keywords: dengue, treatment, fluid resuscitation

  15. Killer Cell Immunoglobulin-Like Receptor (KIR) Genotype Distribution in Familial Mediterranean Fever (FMF) Patients.

    Science.gov (United States)

    Erken, Ertugrul; Goruroglu Ozturk, Ozlem; Kudas, Ozlem; Arslan Tas, Didem; Demirtas, Ahmet; Kibar, Filiz; Dinkci, Suzan; Erken, Eren

    2015-11-17

    BACKGROUND Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease predominantly affecting Mediterranean populations. The gene associated with FMF is the MEFV gene, which encodes for a protein called pyrin. Mutations of pyrin lead to uncontrolled attacks of inflammation, and subclinical inflammation continues during attack-free intervals. Killer cell immunoglobulin-like receptor (KIR) genes encode HLA class I receptors expressed by NK cells. The aim this study was to look for immunogenetic determinants in the pathogenesis of FMF and find out if KIR are related to susceptibility to disease or complications like renal amyloidosis. MATERIAL AND METHODS One hundred and five patients with FMF and 100 healthy individuals were involved in the study. Isolated DNA from peripheral blood was amplified by sequence specific PCR probes and analyzed by Luminex for KIR genotypes. Fisher Exact test was used to evaluate the variation of KIR gene distribution. RESULTS All patients and healthy controls expressed the framework genes. An activator KIR gene, KIR2DS2, was significantly more frequent in FMF patients (p=0.036). Renal amyloidosis and presence of arthritis were not associated with KIR genes and genotype. KIR3DL1 gene was more common in patients with high serum CRP (p=0.016). CONCLUSIONS According to our findings, we suggest that presence of KIR2DS2, which is an activator gene for NK cell functions, might be related to the autoinflammation in FMF. The potential effect of KIR genes on amyloidosis and other clinical features requires studies with larger sample sizes.

  16. Fever in Children and Fever of Unknown Origin.

    Science.gov (United States)

    Dayal, Rajeshwar; Agarwal, Dipti

    2016-01-01

    Fever is the most common symptom in children and can be classified as fever with or without focus. Fever without focus can be less than 7 d and is subclassified as fever without localizing signs and fever of unknown origin (FUO). FUO is defined as a temperature greater than 38.3 °C, for more than 3 wk or failure to reach a diagnosis after 1 wk of inpatient investigations. The most common causes of FUO in children are infections, connective tissue disorders and neoplasms. Infectious diseases most commonly implicated in children with FUO are salmonellosis, tuberculosis, malaria and rickettsial diseases. Juvenile rheumatic arthritis is the connective tissue disease frequently associated with FUO. Malignancy is the third largest group responsible for FUO in children. Diagnostic approach of FUO includes detailed history and examination supported with investigations. Age, history of contact, exposure to wild animals and medications should be noted. Examination should include, apart from general appearance, presence of sweating, rashes, tonsillitis, sinusitis and lymph node enlargement. Other signs such as abdominal tenderness and hepatosplenomegly should be looked for. The muscles and bones should be carefully examined for connective tissue disorders. Complete blood count, blood smear examination and level of acute phase reactants should be part of initial investigations. Radiological imaging is useful aid in diagnosing FUO. Trials of antimicrobial agents should not be given as they can obscure the diagnosis of the disease in FUO.

  17. Typhoid fever vaccination strategies.

    Science.gov (United States)

    Date, Kashmira A; Bentsi-Enchill, Adwoa; Marks, Florian; Fox, Kimberley

    2015-06-19

    Typhoid vaccination is an important component of typhoid fever prevention and control, and is recommended for public health programmatic use in both endemic and outbreak settings. We reviewed experiences with various vaccination strategies using the currently available typhoid vaccines (injectable Vi polysaccharide vaccine [ViPS], oral Ty21a vaccine, and injectable typhoid conjugate vaccine [TCV]). We assessed the rationale, acceptability, effectiveness, impact and implementation lessons of these strategies to inform effective typhoid vaccination strategies for the future. Vaccination strategies were categorized by vaccine disease control strategy (preemptive use for endemic disease or to prevent an outbreak, and reactive use for outbreak control) and vaccine delivery strategy (community-based routine, community-based campaign and school-based). Almost all public health typhoid vaccination programs used ViPS vaccine and have been in countries of Asia, with one example in the Pacific and one experience using the Ty21a vaccine in South America. All vaccination strategies were found to be acceptable, feasible and effective in the settings evaluated; evidence of impact, where available, was strongest in endemic settings and in the short- to medium-term. Vaccination was cost-effective in high-incidence but not low-incidence settings. Experience in disaster and outbreak settings remains limited. TCVs have recently become available and none are WHO-prequalified yet; no program experience with TCVs was found in published literature. Despite the demonstrated success of several typhoid vaccination strategies, typhoid vaccines remain underused. Implementation lessons should be applied to design optimal vaccination strategies using TCVs which have several anticipated advantages, such as potential for use in infant immunization programs and longer duration of protection, over the ViPS and Ty21a vaccines for typhoid prevention and control. Copyright © 2015. Published by

  18. Successful treatment with humanized anti-interleukin-6 receptor antibody (tocilizumab) in a case of AA amyloidosis complicated by familial Mediterranean fever.

    Science.gov (United States)

    Hamanoue, Satoshi; Suwabe, Tatsuya; Hoshino, Junichi; Sumida, Keiichi; Mise, Koki; Hayami, Noriko; Sawa, Naoki; Takaichi, Kenmei; Fujii, Takeshi; Ohashi, Kenichi; Yazaki, Masahide; Ikeda, Shuichi; Ubara, Yoshifumi

    2016-07-01

    Familial Mediterranean fever (FMF) is a well-known cause of secondary AA amyloidosis. Colchicine is generally considered to be the most effective treatment for FMF and FMF-associated amyloidosis, but the management of patients who are refractory to colchicine remains controversial. We encountered a 51-year-old Japanese man with suspected FMF, who had periodic fever with abdominal pain, polyarthritis, and nephropathy (serum creatinine of 1.9 mg/dL and 24-h protein excretion of 3.8 g). FMF was diagnosed by mutation analysis of the Mediterranean fever (MEFV) gene, which revealed that the patient was compound heterozygous for the marenostrin/pyrin variant E148Q/M694I. AA amyloidosis was diagnosed by renal and gastric biopsy. Colchicine was administered, but his arthritis persisted, and serum creatinine increased to 2.4 mg/dL. Therefore, a humanized anti-interleukin-6 receptor antibody (tocilizumab) was administered at a dose of 8 mg/kg on a monthly basis. Both arthritis and abdominal pain subsided rapidly, and C-reactive protein (CRP) decreased from 2.5 to 0.0 mg/dL. After 2 years, his serum creatinine was decreased to 1.5 mg/dL and proteinuria was improved to 0.3 g daily. In addition, repeat gastric biopsy showed a marked decrease of AA amyloidosis. This case suggests that tocilizumab could be a new therapeutic option for patients with FMF-associated AA amyloidosis if colchicine is not effective.

  19. Cotton Fever: Does the Patient Know Best?

    Science.gov (United States)

    Xie, Yingda; Pope, Bailey A; Hunter, Alan J

    2016-04-01

    Fever and leukocytosis have many possible etiologies in injection drug users. We present a case of a 22-year-old woman with fever and leukocytosis that were presumed secondary to cotton fever, a rarely recognized complication of injection drug use, after an extensive workup. Cotton fever is a benign, self-limited febrile syndrome characterized by fevers, leukocytosis, myalgias, nausea and vomiting, occurring in injection drug users who filter their drug suspensions through cotton balls. While this syndrome is commonly recognized amongst the injection drug user population, there is a paucity of data in the medical literature. We review the case presentation and available literature related to cotton fever.

  20. [Autoinflammatory syndromes/fever syndromes].

    Science.gov (United States)

    Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I

    2011-05-01

    Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1β. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned.

  1. Historical aspects of rheumatic fever.

    Science.gov (United States)

    Steer, Andrew C

    2015-01-01

    Few diseases have experienced such a remarkable change in their epidemiology over the past century, without the influence of a vaccine, than rheumatic fever. Rheumatic fever has all but disappeared from industrialised countries after being a frequent problem in the 1940s and 1950s. That the disease still occurs at high incidence in resource limited settings and in Indigenous populations in industrialised countries, particularly in Australia and New Zealand, is an indication of the profound effect of socio-economic factors on the disease. Although there have been major changes in the epidemiology of rheumatic fever, diagnosis remains reliant on careful clinical judgement and management is remarkably similar to that 50 years ago. Over the past decade, increasing attention has been given to rheumatic fever and rheumatic heart disease as public health issues, including in Australia and particularly in New Zealand, as well as in selected low and middle income countries. Perhaps the greatest hope for public health control of rheumatic fever is the development of a vaccine against Streptococcus pyogenes, and there are encouraging initiatives in this area. However, an effective vaccine is some time away and in the meantime public health efforts need to focus on effective translation of the known evidence around primary and secondary prophylaxis into policy and practice.

  2. Management of acute childhood fevers.

    Science.gov (United States)

    Teuten, Polly; Paul, Siba Prosad; Heaton, Paul Anthony

    2015-01-01

    Feverish illnesses commonly affect children and are the second most frequent reason for a child to be admitted to hospital. Most cases are viral in origin, usually with a good prognosis. Fever can be caused by severe and rapidly progressive illness which needs urgent referral to hospital for potentially life-saving treatment, and community practitioners must be able to identify such cases showing 'red flag'features. The fear of serious disease among parents and carers may result in 'fever phobia' leading to minor illnesses being managed inappropriately. Community practitioners are well placed to reassure and support families, and to provide education regarding the facts about fever, the appropriate use of antipyretic medication, how to avoid dehydration, and the beneficial role of immunisation in preventing infection.

  3. Rheumatic Fever Programme in Samoa.

    Science.gov (United States)

    Viali, Satupaitea; Saena, Puleiala; Futi, Vailogoua

    2011-02-11

    Rheumatic fever is very common in Samoa. The following paper describes the Rheumatic Fever Programme in Samoa and looks at the incidence of acute rheumatic fever (ARF) and rheumatic heart disease (RHD). The incidence of ARF has decreased to 30 per 100,000 in 2005, 12.8 per 100,000 in 2007, 7.3 per 100,000 in 2008, and 9.5 per 100,000 in 2009. The incidence of RHD has decreased to 40.2 per 100,000 in 2007, 34 per 100,000 in 2008, and 31.8 per 100,000 in 2009. Cardiac surgery in New Zealand is expensive, but is cheaper to perform in Samoa. RHD screening with echocardiogram at schools may be the best way to reduce the burden and suffering from RHD.

  4. Bilateral retinitis following typhoid fever

    OpenAIRE

    Prabhushanker, M.; Topiwalla, Tasneem T.; Ganesan, Geetha; Appandaraj, Sripal

    2017-01-01

    Background Post typhoid fever immune related reactions affecting the eye is a rare finding which can have various presentations in which typhoid retinopathy is not a well recognized sequelae. Case presentation Here we present a case of 59?year old male who presented with right eye sudden painless loss of vision 4?weeks after typhoid fever which was diagnosed and treated successfully. His BCVA was 2/60 in right eye and 6/6 in left eye. Fundus examination showed retinitis along with macular ser...

  5. Cutaneous manifestations of chikungunya fever.

    Science.gov (United States)

    Seetharam, K A; Sridevi, K; Vidyasagar, P

    2012-01-01

    Chikungunya fever, a re-emerging RNA viral infection produces different cutaneous manifestations in children compared to adults. 52 children with chikungunya fever, confirmed by positive IgM antibody test were seen during 2009-2010. Pigmentary lesions were common (27/52) followed by vesiculobullous lesions (16/52) and maculopapular lesions (14/52). Vesiculobullous lesions were most common in infants, although rarely reported in adults. Psoriasis was exacerbated in 4 children resulting in more severe forms. In 2 children, guttate psoriasis was observed for the first time.

  6. Scarlet Fever: A Group A Streptococcal Infection

    Science.gov (United States)

    ... this? Submit Button Past Emails CDC Features Scarlet Fever: A Group A Streptococcal Infection Language: English Español ( ... red rash that feels rough, like sandpaper. Scarlet Fever Podcast A pediatrician explains the cause, treatment, and ...

  7. Crimean-Congo Hemorrhagic Fever (CCHF)

    Science.gov (United States)

    ... Cancel Submit Search The CDC Crimean-Congo Hemorrhagic Fever (CCHF) Note: Javascript is disabled or is not ... on Facebook Tweet Share Compartir Crimean-Congo hemorrhagic fever (CCHF) is caused by infection with a tick- ...

  8. Rocky Mountain Spotted Fever: Statistics and Epidemiology

    Science.gov (United States)

    ... The CDC Cancel Submit Search The CDC Rocky Mountain Spotted Fever (RMSF) Note: Javascript is disabled or ... please visit this page: About CDC.gov . Rocky Mountain Spotted Fever (RMSF) Symptoms, Diagnosis, and Treatment Statistics ...

  9. Hyperthermia and fever control in brain injury.

    Science.gov (United States)

    Badjatia, Neeraj

    2009-07-01

    Fever in the neurocritical care setting is common and has a negative impact on outcome of all disease types. Meta-analyses have demonstrated that fever at onset and in the acute setting after ischemic brain injury, intracerebral hemorrhage, and cardiac arrest has a negative impact on morbidity and mortality. Data support that the impact of fever is sustained for longer durations after subarachnoid hemorrhage and traumatic brain injury. Recent advances have made eliminating fever and maintaining normothermia feasible. However, there are no prospective randomized trials demonstrating the benefit of fever control in these patient populations, and important questions regarding indications and timing remain. The purpose of this review is to analyze the data surrounding the impact of fever across a range of neurologic injuries to better understand the optimal timing and duration of fever control. Prospective randomized trials are needed to determine whether the beneficial impact of secondary injury prevention is outweighed by the potential risks of prolonged fever control.

  10. Overview of Classical Swine Fever (Hog Cholera, Classical Swine fever)

    Science.gov (United States)

    Classical swine fever is a contagious often fatal disease of pigs clinically characterized by high body temperature, lethargy, yellowish diarrhea, vomits and purple skin discoloration of ears, lower abdomen and legs. It was first described in the early 19th century in the USA. Later, a condition i...

  11. Hemorrhagic Fever with Renal Syndrome (Korean Hemorrhagic Fever)

    Science.gov (United States)

    1989-07-31

    Meningo- Fever, chills, headache, encepha- stiff neck, myalgia, litis conjunctival infection, back pain, dysuria, facial palsy (died 6 day) 3. Isolation of... Central Africa (23-26) and more recently in Taiwan, the Philippines, Malaysia, Singapore, Hong Kong, Fiji, Hawaii, Argentine, Uruguay and Paraguay

  12. A timely reminder--rheumatic fever.

    Science.gov (United States)

    Lilic, Nikola; Kumar, Priyanka

    2013-04-19

    Rheumatic fever is a disease diagnosed using the Jones criteria. The Jones criteria were designed using data from areas with a low prevalence of rheumatic fever. In New Zealand there is a high prevalence of rheumatic fever amongst Maori and Pacific peoples. A case is presented where a child of Samoan ethnicity is diagnosed and treated for rheumatic fever without fulfilling the Jones criteria. Evidence supporting the broadening of the diagnostic criteria in high prevalence areas is highlighted.

  13. A Case of Olanzapine-Induced Fever

    Science.gov (United States)

    Yang, Cho-Hsiang; Chen, Ying-Yeh

    2017-01-01

    Olanzapine, a frequently used second-generation antipsychotic, has rarely been implicated as a cause of drug-induced fever in the absence of neuroleptic malignant syndrome. We describe a patient who developed isolated fever following olanzapine monotherapy, which subsided after discontinuation of olanzapine. Blockade of dopaminergic receptors and elevated cytokines concentration are possible mechanisms of fever development during treatment with olanzapine. This case calls for attention to olanzapine-induced fever in clinical practice. PMID:28138204

  14. Rocky Mountain Spotted Fever (For Parents)

    Science.gov (United States)

    ... Feeding Your 1- to 2-Year-Old Rocky Mountain Spotted Fever KidsHealth > For Parents > Rocky Mountain Spotted Fever Print A A A What's in ... en español La rickettsiosis maculosa About RMSF Rocky Mountain spotted fever (RMSF) is a bacterial infection that's ...

  15. Hereditary periodic fever and reactive amyloidosis.

    NARCIS (Netherlands)

    Hilst, J.C.H. van der; Simon, A.; Drenth, J.P.H.

    2005-01-01

    Hereditary periodic fever syndromes (HPF) are a group of diseases characterised by recurrences of fever and inflammation separated by symptom-free intervals. Familial Mediterranean fever (FMF) is the most frequent entity within this group of disorders which further consists of

  16. First Outbreak of Dengue Hemorrhagic Fever, Bangladesh

    OpenAIRE

    Rahman, Mahbubur; Rahman, Khalilur; Siddque, A. K.; Shoma, Shereen; A. H. M. Kamal; Ali, K.S.; Nisaluk, Ananda; Breiman, Robert F

    2002-01-01

    During the first countrywide outbreak of dengue hemorrhagic fever in Bangladesh, we conducted surveillance for dengue at a hospital in Dhaka. Of 176 patients, primarily adults, found positive for dengue, 60.2% had dengue fever, 39.2% dengue hemorrhagic fever, and 0.6% dengue shock syndrome. The Dengue virus 3 serotype was detected in eight patients.

  17. Radiological observation in typhoid fever

    Energy Technology Data Exchange (ETDEWEB)

    Lim, K. Y.; Park, H. Y.; Kim, J. D.; Rhee, H. S. [Presbyterian Medical Center, Jeonju (Korea, Republic of)

    1985-12-15

    Radiographic findings in plain abdominal films, chest PA and liver scanning are considered to be ancillary diagnostic methods for uncomplicated typhoid fever and a valuable method for detection of complication such as intestinal perforation. 189 cases of clinically proven typhoid fever from Mar. 1973 to Feb. 1979 in this Hospital were reviewed and radiographic findings were analyzed carefully. The results are as follows: 1. Most (73.6%) cases were between 20 and 40 years of age. 2. Three of the most common radiographic findings were as follows: 1) Localized paralytic ileus in RLQ or diffuse paralytic ileus (96.3%). 2) Hepatomegaly (56.5%). 3) Splenomegaly (49.7%). 3. In cases of typhoid fever with intestinal perforation there were additional significant findings such as free air under diaphragm (85%), free fluid in peritoneal cavity (90%) and air fluid levels in RLQ (80%). 4. The most frequent chest x-ray finding was elevation of diaphragm (11.1%). 5. 8 cases of complicated typhoid fever which eventually came to operation were diagnosed only by radiographic method.

  18. Abdominal Complications of Typhoid Fever

    OpenAIRE

    Ketan Vagholkar; Jimmy Mirani; Urvashi Jain; Madhavan Iyengar; Rahul Kumar Chavan

    2015-01-01

    The natural history of typhoid fever poses both a diagnostic and a therapeutic challenge. Awareness of the clinical features of the primary presentation and of the complications are pivotal to early diagnosis. Typically, aggressive supportive care is all that is needed. However abdominal complications do occur and proper surgical care is required to lower morbidity and mortality.

  19. Nature Inspired Hay Fever Therapy

    Institute of Scientific and Technical Information of China (English)

    Andrei P.Sommer; Dan Zhu

    2008-01-01

    The survival oriented adaptation of evolved biosystems to variations in their environment is a selective optimization process. Recognizing the optimised end product and its functionality is the classical arena of bionic engineering. In a primordial world, however, the molecular organization and functions of prebiotic systems were solely defined by formative processes in their physical and chemical environment, for instance, the interplay between interracial water layers on surfaces and solar light. The formative potential of the interplay between light (laser light) and interfacial water layers on surfaces was recently exploited in the formation of supercubane carbon nanocrystals. In evolved biosystems the formative potential of interracial water layers can still be activated by light. Here we report a case of hay fever, which was successfully treated in the course of a facial reju-venation program starting in November 2007. Targeting primarily interfacial water layers on elastin fibres in the wrinkled areas, we presumably also activated mast cells in the nasal mucosa, reported to progressively decrease in the nasal mucosa of the rabbit, when frequently irradiated. Hay fever is induced by the release of mediators, especially histamine, a process associated with the degranulation of mast cells. Decrease in mast cells numbers implies a decrease in the release of histamine. To the best of our knowledge this is the first report on the treatment of hay fever with visible light. This approach was inspired by bionic thinking, and could help ameliorating the condition of millions of people suffering from hay fever world wide.

  20. Cardiac Manifestation in Dengue Fever.

    Science.gov (United States)

    Arora, Mohit; Patil, Rekha S

    2016-07-01

    To study the cardiac manifestations of the dengue fever. This one year descriptive study was undertaken at KLES Dr. Prabhakar Kore Hospital and Medical Research Centre, Belgaum under the Department of Medicine. A total of 120 patients with either dengue IgM or IgM and IgG were studied. The assessment of cardiac manifestations was done based on electrocardiogram, 2D echocardiography and cardiac enzymes. Of the 120 patients, 85 (70.83%) were males and the male to female ratio was 2.4:1. The mean age of the patients was 33.02 ± 12.71 years. The commonest clinical presentation was myalgia (97.5%) followed by fever (92.5%). On clinical examination 33.33% of the patients had petecheia and only 9 patients having active bleeding manifestation at the time of presentation. A raised CK-MB and Troponin I was observed in 33.3% and 26.7% patients ECG findings revealed normal rhythm among 95% with 15.8% of them having an abnormal heart rate. Rhythm disturbance was noted in 5% of the patients with AV block being the most common (66.67%). Cardiac manifestation in the form of myocarditis was observed in 37.50% of the patients with a positive correlation with the severity of the dengue fever defined as by W.H.O. criteria. Patients with dengue fever are at high risk of developing myocarditis and rhythm disturbance and therefore require a close cardiac monitoring.

  1. [Sacroiliitis in familial Mediterranean fever].

    Science.gov (United States)

    Connemann, B J; Steinhoff, J; Benstein, R; Sack, K

    1991-11-22

    A 15-year-old girl of Turkish descent had for one year complained of severe recurrent fever-associated deep back pains. Since she was three years of age she had suffered from repeated attacks of fever and severe abdominal pain which ceased spontaneously in 1-3 days. On physical examination the sacrum and iliosacral joints were very painful to percussion, and she limped. Radiography revealed symmetric destructive sacroiliitis. Despite the unusual location of the arthritis, the triad of fever, abdominal pain and arthritis, as well as her belonging to an ethnic "at risk" group, pointed to the diagnosis of familial mediterranean fever (FML) or recurrent hereditary polyserositis. This diagnosis was confirmed by a positive metaraminol provocation test in that infusion of metaraminol reproduced the typical pains. Collagen diseases, rheumatic disease, acute porphyria and chronic infectious processes were excluded. The sacroiliitis quickly responded to long-term administration of colchicine, 0.5 mg twice daily. The patient also has Hageman factor deficiency whose significance remains unclear.

  2. Sandfly Fever Sicilian Virus, Algeria

    Science.gov (United States)

    Izri, Arezki; Temmam, Sarah; Moureau, Grégory; Hamrioui, Boussad; de Lamballerie, Xavier

    2008-01-01

    To determine whether sandfly fever Sicilian virus (SFSV) is present in Algeria, we tested sandflies for phlebovirus RNA. A sequence closely related to that of SFSV was detected in a Phlebotomus ariasi sandfly. Of 60 human serum samples, 3 contained immunoglobulin G against SFSV. These data suggest SFSV is present in Algeria. PMID:18439364

  3. Fever in Infants and Children

    Science.gov (United States)

    ... with a high fever?YesNoDoes it hurt or burn when your child urinates and does he or she or have ... CareMild cases of croup can be treated at home. Make sure your child gets plenty of rest and lots of fluids. ...

  4. EL LOCUS DE DISTRIBUCION COMO COROLARIO DEL LOCUS DE CONTROL

    Directory of Open Access Journals (Sweden)

    Luisa Mayoral

    2009-01-01

    Full Text Available Este es un artículo científico acerca del Locus de Distribución, surgido de un estudio realizado con una población de docentes y alumnos universitarios. Respecto de los primeros, se ha indagado acerca de las atribuciones que se realizaban en torno a las recompensas y sanciones, que ellos distribuían a sus alumnos. Respecto de los segundos, se ha buscado determinar la valoración que estos realizaban de sus profesores, en términos de aquellas atribuciones. Para ello, se utilizaron dos paradigmas clásicamente empleados para verificar la existencia de una norma: el paradigma de la autopresentación (docentes, y el paradigma de los juicios (alumnos. La cuestión planteada fue determinar si en el caso de los comportamientos distributivos de refuerzos, las causas se atribuían a variables externas -en particular a los receptores de esos refuerzos- y si esas formas de atribución eran conocidas y valoradas o no, por los alumnos. De los resultados, surgió la confirmación de nuestra hipótesis de explicaciones externas en materia de comportamientos distributivos de sanciones en el ámbito de la docencia y la valoración positiva de estas atribuciones por los alumnos.

  5. New Spotted Fever Group Rickettsia in a Rhipicephalus turanicus Tick Removed from a Child in Eastern Sicily, Italy

    OpenAIRE

    Eremeeva, Marina E; Stromdahl, Ellen Y.

    2011-01-01

    A new genotype of spotted fever group Rickettsia (SFGR) was identified in Rhipicephalus turanicus from eastern Sicily. On the basis of current molecular criteria, the genetic characteristics obtained from multiple locus sequence typing satisfy the requirements for Candidatus status of this SFGR. Further detection and identification of this SFGR during entomological and clinical surveys will be required to establish the prevalence of this Rickettsia and its potential pathogenicity for humans.

  6. Relationship between genetic mutation variations and acute-phase reactants in the attack-free period of children diagnosed with familial Mediterranean fever

    Energy Technology Data Exchange (ETDEWEB)

    Kosan, C. [Department of Pediatric Nephrology, Faculty of Medicine, Ataturk University, Erzurum (Turkey); Cayir, A.; Turan, M.I. [Department of Pediatrics, Faculty of Medicine, Ataturk University, Erzurum (Turkey)

    2013-09-18

    Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease characterized by chronic inflammation. This study investigated the relationship between acute-phase reactants and gene mutations in attack-free periods of childhood FMF. Patients diagnosed with FMF were divided into four groups based on genetic features: no mutation, homozygous, heterozygous, and compound heterozygous. These groups were monitored for 2 years, and blood samples were collected every 6 months during attack-free periods. Erythrocyte sedimentation rate, C-reactive protein, fibrinogen, and white blood cell count were measured. A disease severity score was determined for each patient. Mean values for erythrocyte sedimentation rate and fibrinogen were significantly different in the homozygous group. White blood cell count and C-reactive protein were similar between the groups. Disease severity score was higher in patients with the M694V mutation than in individuals without the mutation, as well as in those with other mutation groups. Periodic follow-up of patients with FMF MEFV mutations in subjects with acute-phase reactants may be useful in the prevention of morbidity.

  7. Relationship between genetic mutation variations and acute-phase reactants in the attack-free period of children diagnosed with familial Mediterranean fever

    Science.gov (United States)

    Kosan, C.; Cayir, A.; Turan, M.I.

    2013-01-01

    Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease characterized by chronic inflammation. This study investigated the relationship between acute-phase reactants and gene mutations in attack-free periods of childhood FMF. Patients diagnosed with FMF were divided into four groups based on genetic features: no mutation, homozygous, heterozygous, and compound heterozygous. These groups were monitored for 2 years, and blood samples were collected every 6 months during attack-free periods. Erythrocyte sedimentation rate, C-reactive protein, fibrinogen, and white blood cell count were measured. A disease severity score was determined for each patient. Mean values for erythrocyte sedimentation rate and fibrinogen were significantly different in the homozygous group. White blood cell count and C-reactive protein were similar between the groups. Disease severity score was higher in patients with the M694V mutation than in individuals without the mutation, as well as in those with other mutation groups. Periodic follow-up of patients with FMF MEFV mutations in subjects with acute-phase reactants may be useful in the prevention of morbidity. PMID:24141617

  8. Relationship between genetic mutation variations and acute-phase reactants in the attack-free period of children diagnosed with familial Mediterranean fever

    Directory of Open Access Journals (Sweden)

    C. Kosan

    2013-09-01

    Full Text Available Familial Mediterranean fever (FMF is a periodic autoinflammatory disease characterized by chronic inflammation. This study investigated the relationship between acute-phase reactants and gene mutations in attack-free periods of childhood FMF. Patients diagnosed with FMF were divided into four groups based on genetic features: no mutation, homozygous, heterozygous, and compound heterozygous. These groups were monitored for 2 years, and blood samples were collected every 6 months during attack-free periods. Erythrocyte sedimentation rate, C-reactive protein, fibrinogen, and white blood cell count were measured. A disease severity score was determined for each patient. Mean values for erythrocyte sedimentation rate and fibrinogen were significantly different in the homozygous group. White blood cell count and C-reactive protein were similar between the groups. Disease severity score was higher in patients with the M694V mutation than in individuals without the mutation, as well as in those with other mutation groups. Periodic follow-up of patients with FMF MEFV mutations in subjects with acute-phase reactants may be useful in the prevention of morbidity.

  9. Secondary amyloidosis in a patient carrying mutations in the familial Mediterranean fever (FMF) and tumour necrosis factor receptor-1 syndrome (TRAPS) genes.

    Science.gov (United States)

    Clementi, Anna; Cruz, Dinna N; Granata, Antonio; Virzì, Grazia Maria; Battaglia, Giorgio

    2013-12-01

    Secondary amyloidosis (AA) is characterized by the extracellular tissue deposition of fibrils composed of fragments of an acute-phase reactant protein, serum amyloid A (SAA), due to chronic inflammatory diseases, infections and several neoplasms. AA amyloidosis may also complicate several hereditary diseases, where genetic factors play a pivotal role in the expression of amyloidosis. Familial Mediterranean fever (FMF) and tumour necrosis factor receptor-1 syndrome (TRAPS) are the most frequently involved. We describe a case of a 21-year-old Romanian woman who presented at the 35th week of gestation with acute abdominal pain, nausea and vomiting. The laboratory workup performed after delivery showed proteinuria in the nephrotic range and increased SAA protein. Kidney amyloid deposits were detected and genetic testing for secondary amyloidosis was performed identifying two mutations, one involving the gene of FMF (MEFV), and the other involving the tumour necrosis factor receptor-1 gene (TNFRSF1A). To our knowledge, this is the first case in the literature where secondary amyloidosis develops in a patient carrying mutations involving the genes of both FMF and TRAPS.

  10. Increased asymmetric dimethylarginine levels in young men with familial Mediterranean fever (FMF): is it early evidence of interaction between inflammation and endothelial dysfunction in FMF?

    Science.gov (United States)

    Terekeci, Hakan M; Oktenli, Cagatay; Ozgurtas, Taner; Nalbant, Selim; Top, Cihan; Celik, Serkan; Tapan, Serkan; Kucukardali, Yasar; Sanisoglu, Yavuz S; Solmazgul, Emrullah; Sahan, Burak; Sayan, Ozkan

    2008-10-01

    Unlike in many other chronic inflammatory rheumatic diseases, studies investigating endothelial dysfunction and atherosclerosis in familial Mediterranean fever (FMF) are limited, and the results are controversial. Asymmetric dimethylarginine (ADMA) is considered an indicator for endothelial dysfunction and a sensitive marker for cardiovascular risk. There have been no reports on serum ADMA levels in patients with FMF. We aimed (1) to determine serum ADMA concentrations in 38 young male patients with FMF and 23 age- and body mass index-matched healthy volunteers; (2) to evaluate its correlations with MEFV mutations, C-reactive protein (CRP) levels, and lipid profile; and (3) to compare effects of colchicine on circulating ADMA concentrations. In patients with FMF, ADMA and CRP levels were higher than in healthy controls. The mean levels of ADMA and CRP were higher during acute attacks than in attack-free periods. Patients taking colchicine had lower serum ADMA levels than non-colchicine users. There was a positive strong correlation between ADMA and CRP in patients with FMF. Stepwise linear regression analysis in patients with FMF revealed that age and CRP levels were independently associated with serum ADMA levels. Our data imply that higher serum ADMA levels in FMF may indicate inflammation-related "endothelial dysfunction." It seems likely that regular use of colchicine is effective in preventing the development of and reversing not only amyloidosis but also endothelial dysfunction in patients with FMF.

  11. Fever of unknown origin: a clinical approach.

    Science.gov (United States)

    Cunha, Burke A; Lortholary, Olivier; Cunha, Cheston B

    2015-10-01

    Fevers of unknown origin remain one of the most difficult diagnostic challenges in medicine. Because fever of unknown origin may be caused by over 200 malignant/neoplastic, infectious, rheumatic/inflammatory, and miscellaneous disorders, clinicians often order non-clue-based imaging and specific testing early in the fever of unknown origin work-up, which may be inefficient/misleading. Unlike most other fever-of-unknown-origin reviews, this article presents a clinical approach. Characteristic history and physical examination findings together with key nonspecific test abnormalities are the basis for a focused clue-directed fever of unknown origin work-up. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Adult-onset acute rheumatic fever.

    Science.gov (United States)

    Nakashima, Dainari; Ueda, Kohei; Tsukuda, Kyozo; Utsu, Noriaki; Kohki, Shimazu; Fushimi, Hiroaki; Miyakoshi, Kazuho

    2012-01-01

    A 62-year-old man was hospitalized for acute rheumatic fever. He had previously suffered from rheumatic fever at 15 years of age. The rheumatic fever was complicated by carditis, which caused valve disease that required surgical treatment. The incidence of rheumatic fever has decreased in most developed countries with improvements in sanitary conditions. The low incidence of this disease makes a timely and accurate diagnosis difficult. Due to the fact that both the first occurrence and recurrence of acute rheumatic fever can occur in the elderly and adults, this potential disease should not be overlooked when making a differential diagnosis.

  13. Translocations affecting human immunoglobulin heavy chain locus

    Directory of Open Access Journals (Sweden)

    Sklyar I. V.

    2014-03-01

    Full Text Available Translocations involving human immunoglobulin heavy chain (IGH locus are implicated in different leukaemias and lymphomas, including multiple myeloma, mantle cell lymphoma, Burkitt’s lymphoma and diffuse large B cell lymphoma. We have analysed published data and identified eleven breakpoint cluster regions (bcr related to these cancers within the IgH locus. These ~1 kbp bcrs are specific for one or several types of blood cancer. Our findings could help devise PCR-based assays to detect cancer-related translocations, to identify the mechanisms of translocations and to help in the research of potential translocation partners of the immunoglobulin locus at different stages of B-cell differentiation.

  14. [Clinical aspects of viral hemorrhagic fever].

    Science.gov (United States)

    Saijo, Masayuki

    2005-12-01

    Viral hemorrhagic fever (VHF) is defined as virus infections that usually cause pyrexia and hemorrhagic symptoms with multiple organ failure. VHF includes following viral infections: Ebola hemorrhagic fever (EHF), Marburg hemorrhagic fever (MHF), Crimean-Congo hemorrhagic fever (CCHF) and Lassa fever. In particular, the causative agents of EHF, MHF, CCHF, and Lassa fever are Ebola, Marburg, CCHF, Lassa viruses, respectively, and regarded as biosafety level-4 pathogens because of their high virulence to humans. Recently, relatively large outbreaks of EHF and MHF have occurred in Africa, and areas of EHF- and MHF-outbreaks seem to be expanding. Although outbreaks of VHF have not been reported in Japan, there is a possibility that the deadly hemorrhagic fever viruses would be introduced to Japan in future. Therefore, preparedness for possible future outbreaks of VHF is necessary in areas without VHF outbreaks.

  15. Fever of unknown origin (FUO) in a renal transplant recipient due to drug fever from sirolimus.

    Science.gov (United States)

    Sharif, Sairah; Kong, May W; Drakakis, James; Cunha, Burke A

    2016-08-01

    A variety of medications may cause drug fever. Drug fevers may persist for days to weeks until diagnosis is considered. The diagnosis of drug fever is confirmed when there is resolution of fever within 3 days after the medication is discontinued. Only rarely do undiagnosed drug fevers persist for over 3 weeks to meet fever of unknown origin (FUO) criteria. FUOs due to drug fever are uncommon, and drug fevers due to immunosuppressive drugs are very rare. This is a case of a 58-year-old female renal transplant recipient who presented with FUO that remained undiagnosed for over 8 weeks. We believe this is the first reported case of an FUO due to drug fever from sirolimus in a renal transplant recipient.

  16. Locus of control and decision to abort.

    Science.gov (United States)

    Dixon, P N; Strano, D A; Willingham, W

    1984-04-01

    The relationship of locus of control to deciding on an abortion was investigated by administering Rotter's Locus of Control Scale to 118 women immediately prior to abortion and 2 weeks and 3 months following abortion. Subjects' scores were compared across the 3 time periods, and the abortion group's pretest scores were compared with those of a nonpregnant control, group. As hypothesized, the aborting group scored significantly more internal than the general population but no differences in locus of control were found across the 3 time period. The length of delay in deciding to abort an unwanted pregnancy following confirmation was also assessed. Women seeking 1st trimester abortions were divided into internal and external groups on the Rotter Scale and the lengths of delay were compared. The hypothesis that external scores would delay the decision longer than internal ones was confirmed. The results confirm characteristics of the locus of control construct and add information about personality characteristics of women undergoing abortion.

  17. The expanded clinical profile and the efficacy of colchicine therapy in Egyptian children suffering from familial mediterranean fever: a descriptive study

    Directory of Open Access Journals (Sweden)

    Talaat Hala Salah El-Din

    2012-12-01

    Full Text Available Abstract Background Familial Mediterranean fever (FMF is an autosomal recessive disease characterized by self-limiting recurrent attacks of fever and serosal inflammation, leading to abdominal, thoracic or articular pain. Objective To detect variable clinical presentations and genotypic distribution of different groups of FMF patients and the efficacy of colchicine therapy in treatment of these groups of FMF after one year. Methods A cross-sectional study was conducted on 70 patients already diagnosed with FMF and following-up at the Rheumatology Clinic, Children's Hospital - Cairo University. Diagnosis of FMF was determined according to Tel Hashomer criteria for FMF. All patients were subjected to a questionnaire including detailed history with emphasis on clinical manifestations and colchicine dose to control attacks. Mutational analysis was performed for all study subjects covering 12 mutations in the MEFV gene: E148Q, P369S, F479L, M680I (G/C, M680I (G/A, I692del, M694V, M694I, K695R, V726A, A744S and R761H. Response to colchicine treatment was evaluated as complete, incomplete and unresponsive. Results Out of the 70 patients- 40 males and 30 females- fever was the most common presenting feature, followed by abdominal pain, and arthritis; documented in 95.7%, 94.3%, and 77.1% of cases respectively. Mutational analysis detected gene mutation on both alleles in 20 patients (homozygotes, on only 1 allele in 40 patients (heterozygotes, and on none of the alleles (uncharacterized cases. Mild to moderate disease severity score (according to Tel Hashomer key to severity score was detected in a significant proportion of heterozygotes and the uncharacterized group than the homozygotes. All patients received colchicine therapy; 22.9% of them showed complete response, 74.3% showed incomplete response and 2.9% showed no response to therapy. The colchicine dose needed to control attacks was significantly lower in heterozygotes than the homozygotes(P=0

  18. The expanded clinical profile and the efficacy of colchicine therapy in Egyptian children suffering from familial mediterranean fever: a descriptive study

    Science.gov (United States)

    2012-01-01

    Background Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by self-limiting recurrent attacks of fever and serosal inflammation, leading to abdominal, thoracic or articular pain. Objective To detect variable clinical presentations and genotypic distribution of different groups of FMF patients and the efficacy of colchicine therapy in treatment of these groups of FMF after one year. Methods A cross-sectional study was conducted on 70 patients already diagnosed with FMF and following-up at the Rheumatology Clinic, Children's Hospital - Cairo University. Diagnosis of FMF was determined according to Tel Hashomer criteria for FMF. All patients were subjected to a questionnaire including detailed history with emphasis on clinical manifestations and colchicine dose to control attacks. Mutational analysis was performed for all study subjects covering 12 mutations in the MEFV gene: E148Q, P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S and R761H. Response to colchicine treatment was evaluated as complete, incomplete and unresponsive. Results Out of the 70 patients- 40 males and 30 females- fever was the most common presenting feature, followed by abdominal pain, and arthritis; documented in 95.7%, 94.3%, and 77.1% of cases respectively. Mutational analysis detected gene mutation on both alleles in 20 patients (homozygotes), on only 1 allele in 40 patients (heterozygotes), and on none of the alleles (uncharacterized cases). Mild to moderate disease severity score (according to Tel Hashomer key to severity score) was detected in a significant proportion of heterozygotes and the uncharacterized group than the homozygotes. All patients received colchicine therapy; 22.9% of them showed complete response, 74.3% showed incomplete response and 2.9% showed no response to therapy. The colchicine dose needed to control attacks was significantly lower in heterozygotes than the homozygotes(P=0.04). Also patients

  19. Search, Effort, and Locus of Control

    OpenAIRE

    McGee, Andrew; McGee, Peter

    2011-01-01

    We test the hypothesis that locus of control – one's perception of control over events in life – influences search by affecting beliefs about the efficacy of search effort in a laboratory experiment. We find that reservation offers and effort are increasing in the belief that one's efforts influence outcomes when subjects exert effort without knowing how effort influences the generation of offers but are unrelated to locus of control beliefs when subjects are informed about the relationship b...

  20. Culture, gender and locus of control

    DEFF Research Database (Denmark)

    Ottsen, Christina Lundsgaard; Johannessen, Kim Berg; Berntsen, Dorthe

    The current study is a cross-cultural comparison between the Middle East and Scandinavia. Two societies that offer a unique opportunity to examine gender differences in personal goals and how goals are affected by locus of control.......The current study is a cross-cultural comparison between the Middle East and Scandinavia. Two societies that offer a unique opportunity to examine gender differences in personal goals and how goals are affected by locus of control....

  1. Bilateral retinitis following typhoid fever.

    Science.gov (United States)

    Prabhushanker, M; Topiwalla, Tasneem T; Ganesan, Geetha; Appandaraj, Sripal

    2017-01-01

    Post typhoid fever immune related reactions affecting the eye is a rare finding which can have various presentations in which typhoid retinopathy is not a well recognized sequelae. Here we present a case of 59 year old male who presented with right eye sudden painless loss of vision 4 weeks after typhoid fever which was diagnosed and treated successfully. His BCVA was 2/60 in right eye and 6/6 in left eye. Fundus examination showed retinitis along with macular serous detachment in right eye and retinitis in left eye. Significant improvement in BCVA in right eye was observed after treatment with oral steroid with resolving retinitis lesions. Diagnosis of post typhoid immune mediated retinitis was made with good resolution following treatment. Immune mediated retinitis is a rare sequelae to typhoid infection which can be successfully treated with systemic steroids with good resolution of the lesions.

  2. Pathogenesis of arenavirus hemorrhagic fevers.

    Science.gov (United States)

    Moraz, Marie-Laurence; Kunz, Stefan

    2011-01-01

    Viral hemorrhagic fevers (VHFs) caused by arenaviruses belong to the most devastating emerging human diseases and represent serious public health problems. Arenavirus VHFs in humans are acute diseases characterized by fever and, in severe cases, different degrees of hemorrhages associated with a shock syndrome in the terminal stage. Over the past years, much has been learned about the pathogenesis of arenaviruses at the cellular level, in particular their ability to subvert the host cell's innate antiviral defenses. Clinical studies and novel animal models have provided important new information about the interaction of hemorrhagic arenaviruses with the host's adaptive immune system, in particular virus-induced immunosuppression, and have provided the first hints towards an understanding of the terminal hemorrhagic shock syndrome. The scope of this article is to review our current knowledge on arenavirus VHF pathogenesis with an emphasis on recent developments.

  3. Fever, febrile seizures and epilepsy.

    Science.gov (United States)

    Dubé, Céline M; Brewster, Amy L; Richichi, Cristina; Zha, Qinqin; Baram, Tallie Z

    2007-10-01

    Seizures induced by fever (febrile seizures) are the most common type of pathological brain activity in infants and children. These febrile seizures and their potential contribution to the mechanisms of limbic (temporal lobe) epilepsy have been a topic of major clinical and scientific interest. Key questions include the mechanisms by which fever generates seizures, the effects of long febrile seizures on neuronal function and the potential contribution of these seizures to epilepsy. This review builds on recent advances derived from animal models and summarizes our current knowledge of the mechanisms underlying febrile seizures and of changes in neuronal gene expression and function that facilitate the enduring effects of prolonged febrile seizures on neuronal and network excitability. The review also discusses the relevance of these findings to the general mechanisms of epileptogenesis during development and points out gaps in our knowledge, including the relationship of animal models to human febrile seizures and epilepsy.

  4. Familial Mediterranean Fever and Hypercoagulability

    Science.gov (United States)

    Tayer-Shifman, Oshrat E.; Ben-Chetrit, Eldad

    2011-01-01

    Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease which is characterized by recurrent attacks of fever and peritonitis, pleuritis, arthritis, or erysipelas-like skin disease. As such, FMF is a prototype of autoinflammatory diseases where genetic changes lead to acute inflammatory episodes. Systemic inflammation – in general - may increase procoagulant factors, and decrease natural anticoagulants and fibrinolytic activity. Therefore, it is anticipated to see more thrombotic events among FMF patients compared with healthy subjects. However, reviewing the current available literature and based upon our personal experience, thrombotic events related purely to FMF are very rare. Possible explanation for this discrepancy is that along with the procoagulant activity during FMF acute attacks, anticoagulant and fibrinolytic changes are also taking place. Colchicine which is the treatment of choice in FMF may also play a role in reducing inflammation thereby decreasing hypercoagulability. PMID:21713077

  5. African swine fever : transboundary diseases

    Directory of Open Access Journals (Sweden)

    M-L. Penrith

    2009-09-01

    Full Text Available African swine fever (ASF is a devastating haemorrhagic fever of pigs that causes up to 100 % mortality, for which there is no vaccine. It is caused by a unique DNA virus that is maintained in an ancient cycle between warthogs and argasid ticks, making it the only known DNA arbovirus. ASF has a high potential for transboundary spread, and has twice been transported from Africa to other continents - Europe and subsequently the Caribbean and Brazil (1957, 1959 and the Caucasus (2007. It is also a devastating constraint for pig production in Africa. Research at Onderstepoort Veterinary Institute has made and is making important contributions to knowledge of this disease, focusing on the cycle in warthogs and tampans and transmission from that cycle to domestic pigs, resistance to its effects in domestic pigs, and the molecular genetic characterisation and epidemiology of the virus.

  6. Unusual Presentation of Dengue Fever

    Science.gov (United States)

    Aslam, Moaz; Aleem, Numra A.; Zahid, Mohammad F.; Rahman, Arshalooz J.

    2016-01-01

    Dengue fever (DF) is an acute febrile illness that follows a self-limiting course. However, some patients suffer from complications, including myocarditis, due to the involvement of other organs. A child presented at the Aga Khan University Hospital in Karachi, Pakistan, in June 2013 with a high-grade fever, malaise and epigastric pain radiating to the chest. Positive DF antigen and immunoglobulin M assays confirmed the diagnosis of DF. Persistent bradycardia with low blood pressure led to further cardiac investigations which showed a decreased ejection fraction and raised serum cardiac enzymes, indicating myocardial damage. With supportive care and use of inotropes, the spontaneous normalisation of cardiac enzyme levels and ejection fraction was observed. The child was discharged five days after admission. This case highlights the importance of identifying myocarditis in DF patients suffering from cardiac symptoms that are not explained by other potential aetiologies. Awareness, early suspicion and supportive care are essential to ensure favourable outcomes. PMID:26909198

  7. Mucocutaneous manifestations of Chikungunya fever

    Directory of Open Access Journals (Sweden)

    Bandyopadhyay Debabrata

    2010-01-01

    Full Text Available Chikungunya fever (CF is an arboviral acute febrile illness transmitted by the bite of infected Aedes mosquitoes. After a quiescence of more than three decades, CF has recently re-emerged as a major public health problem of global scale. CF is characterized by an acute onset of high fever associated with a severe disabling arthritis often accompanied by prominent mucocutaneous manifestations. The disease is usually self-limiting, but the joint symptoms and some of the cutaneous features may persist after the defervescence. A wide range of mucocutaneous changes has been described to occur in association with CF during the current epidemic. Besides a morbilliform erythema, hyperpigmentation, xerosis, excoriated papules, aphthous-like ulcers, vesiculobullous and lichenoid eruptions, and exacerbation of pre-existing or quiescent dermatoses had been observed frequently. These unusual features may help in the clinical differential diagnosis of acute viral exanthems mimicking CF.

  8. Imported chikungunya fever in Madrid.

    Science.gov (United States)

    Richi Alberti, Patricia; Steiner, Martina; Illera Martín, Óscar; Alcocer Amores, Patricia; Cobo Ibáñez, Tatiana; Muñoz Fernández, Santiago

    2016-01-01

    Chikungunya Fever is a mosquito-transmitted viral disease that causes fever, rash and musculoskeletal complaints. The latest may persist for several months, or even years or developed a relapsing course, that deserve an adequate treatment. Due to the large outbreak declared in the Caribbean in 2013, imported cases of Chikungunya as well as the risk of autochthonous transmission in case of available vectors have increased in non-endemic countries, like Spain. We described four cases of Chikungunya treated in our clinic. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  9. Prolonged fever after Infliximab infusion

    Institute of Scientific and Technical Information of China (English)

    Jennifer; Katz; Michael; Frank

    2012-01-01

    Pharmacologic management for ulcerative colitis (UC) has recently been expanded to include antitumor necrosis factor (TNF) therapy for severe disease. Infliximab, a chimeric monoclonal antibody directed again TNF α was first tested in patients with Crohn’s disease. In addition to serious infections, malignancy, drug induced lupus and other autoimmune diseases, serum sickness-like reactions, neurological disease, and infusion reactions further complicate the use of Infliximab. We report a case of prolonged fever after Infliximab infusion to treat steroid refractory UC.

  10. Azathioprine-induced fever in autoimmune hepatitis

    Science.gov (United States)

    Khoury, Tawfik; Ollech, Jacob E; Chen, Shmuel; Mizrahi, Meir; Shalit, Meir

    2013-01-01

    Underdiagnosis of drug-induced fever leads to extensive investigation and prolongation of hospitalization, and may lead to multiple unnecessary invasive procedures and a wrong diagnosis. Azathioprine is a widely used immunosuppressive drug. We report a case of a 53-year-old female patient diagnosed with autoimmune hepatitis treated with azathioprine, who presented to the emergency room with a 6-wk history of fever and chills without other associated symptoms. Since the patient’s fever was of unknown origin, she was hospitalized. All treatment was stopped and an extensive workup to explore the source of fever and chills was performed. Results of chest X-ray, viral, urine, and blood cultures, autoimmune serology, transthoracic and transesophageal echocardiography, and abdominal ultrasound revealed no source of infection. A rechallenge test of azathioprine was performed and the fever and chills returned within a few hours. Azathioprine was established as the definite cause following rechallenge. Fever as an adverse drug reaction is often unrecognized. Azathioprine has been reported to cause drug-induced fever in patients with inflammatory bowel disease, rheumatoid arthritis, and sarcoidosis. To the best of our knowledge there have been no previous reports documenting azathioprine-induced fever in patients with autoimmune hepatitis. The occurrence of fever following the readministration of azathioprine suggests the diagnosis of drug-induced fever, particularly after the exclusion of other causes. A careful rechallenge is recommended to confirm the diagnosis. PMID:23840156

  11. Why Fever Phobia Is Still Common?

    Science.gov (United States)

    Gunduz, Suzan; Usak, Esma; Koksal, Tulin; Canbal, Metin

    2016-01-01

    Background Fever is a reliable sign of illness, but it also evokes fear and anxiety. It is not the fever itself but the fear of possible complications and accompanying symptoms that is important for pediatricians and parents. Objectives We aimed to investigate maternal understanding of fever, its potential consequences, and impacts on the treatment of children. Patients and Methods A questionnaire was use to explore the attitudes, knowledge, and practices of mothers of 861 children brought to four medical centers in different regions of Turkey in 2012, with fever being the chief complaint. All the children were aged 3 months - 15 years. Results Among the 861 mothers, 92.2% favored antipyretics for fever, either alone or in addition to external cooling measures. Most favored paracetamol or ibuprofen. In this study, the appropriate use of antipyretics was 75.2%, which was higher than that reported in the literature. In common with previous reports, seizures and brain damage were perceived as the most frightening and harmful effects of fever. All the mothers expressed concerns about fever, but they were most common among the highly educated or those with one child. Conclusions Fever phobia remains common, not only among low socioeconomic status mothers but also among those of high socioeconomic status. Healthcare providers should take fever phobia into account and provide correct information to caregivers about fever at all visits. PMID:27781110

  12. High prevalence of spondyloarthritis and ankylosing spondylitis among familial Mediterranean fever patients and their first-degree relatives: further evidence for the connection

    Science.gov (United States)

    2013-01-01

    Introduction Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by recurrent attacks of fever and serositis. Limited data suggest that the prevalence of sacroiliitis is increased in patients with FMF. In our present study, we assessed the prevalence of spondyloarthritis (SpA), including ankylosing spondylitis (AS), among a cohort of FMF patients and their unaffected first-degree relatives (FDRs). Methods The current study cohort comprised a consecutive group of 201 unrelated patients with FMF and 319 FDRs (≥ 16 years old). These subjects were examined according to a standard protocol. Results A total of 157 FMF patients (78.1%) and 233 (73%) unaffected FDRs reported back pain. Fifteen FMF patients (7.5%) and nine unaffected FDRs fulfilled the modified New York (mNY) criteria for AS. One additional FDR with AS was identified after review of the medical records. None of the FMF patients with AS was HLA-B27 positive. The allele frequency of M694V among the FMF patients with radiographic sacroiliitis was significantly higher in comparison with those without sacroiliitis (OR 4.3). When compared with the general population, the risk ratios for SpA and AS among the FDRs of our FMF patients were 3.3 (95% CI; 2.0 to 5.5) and for AS 2.9 (95% CI; 1.3 to 6.4), respectively. Conclusions Our study suggests that a) factors other than HLA-B27 play a role in the association of FMF and SpA/AS; b) MEFV gene variations may be one of the geographic/region-specific potential pathogenetic links between these two disorders in the Turkish population. PMID:23356447

  13. Long-term outcome of renal transplantation in patients with familial Mediterranean fever amyloidosis: a single-center experience.

    Science.gov (United States)

    Abedi, A S; Nakhjavani, J M; Etemadi, J

    2013-01-01

    Familial Mediterranean fever (FMF) is an autosomal-recessive disorder, affecting multiple organs. The AA type of amyloidosis is most common and serious complication cause nephropathy and end-stage renal disease (ESRD). Renal transplantation (RTX) remains treatment of choice for ESRD. We aimed to investigate long-term results of RTX in patients with FMF amyloidosis. We compared the outcomes of 18 patients (12 men and 6 women) with FMF amyloidosis among 601 (2.9%) transplants with 200 control patients. Demographic data and gene analysis were evaluated. In our study the 1-year graft and patient survivals were 94.44% and 100%, respectively. At 5 years after RTX, they were 94.73% and 88.88%, respectively, in the FMF group without difference from controls. Mean creatinine level at 1 and 5 years were 1.43 ± 0.54 and 1.73 ± 0.89, respectively. The results of MEFV mutation analyses were: M694V/M694V homozygote in 1 patient, M694V/EQ148 in 3, M694V/V726A in 2, 680M-I/E148Q in 3, M694V/M680I in 5, R202Q/M680I in 2, and M694V/R202Q in 2. Recurrence was noticed in 1 patient with M694V/M680I. One patient died because of graft loss and cardiac complications with M694V/M680I gene analysis. Colchicine was reduced in 4 patients owing to side effects. Long-term outcomes of transplantation in patients with amyloidosis secondary to FMF is similar to that in the general transplant population and maintenance colchicine, even after decreasing its dose, effectively prevents recurrence of amyloidosis in the allograft. Copyright © 2013. Published by Elsevier Inc.

  14. Familial Mediterranean fever (FMF) and multiple sclerosis: an association study in one of the world's largest FMF cohorts.

    Science.gov (United States)

    Yahalom, G; Kivity, S; Lidar, M; Vaknin-Dembinsky, A; Karussis, D; Flechter, S; Ben-Chetrit, E; Livneh, A

    2011-09-01

      To describe and characterize the association between familial Mediterranean fever (FMF) and multiple sclerosis (MS).   The patient registry of The National Center for FMF was screened for the coexistence of FMF and MS. Tel-Hashomer criteria were used for the diagnosis of FMF, and FMF severity was evaluated, using the simplified FMF severity scale. McDonald criteria were used for the diagnosis of MS, and neurologic disability was measured using the expanded disability status scale (EDSS).   We identified nine patients, affected with both FMF and MS. The onset of the FMF averaged 15.6 (3-37) years. Most patients suffered from abdominal and joint attacks, and 50% of the patients sustained a moderate to severe FMF. The onset of the MS was at an average age of 31.6 (17-50) years. Neurologic manifestations varied individually, without a dominant deficit, and the course was in a relapsing-remitting pattern in most. The median EDSS was in general of low score (3.0), apart from the patients who were homozygous for the M694V mutation, in whom the MS was more severe. Based on our case series, the frequency of MS in our FMF population is 0.075%, twice higher the expected rate in the general population (P=0.0057).   Multiple sclerosis is more common in FMF than in the general Israeli population. Homozygosity for the M694V MEFV mutation may aggravate the phenotype of MS and predispose FMF patients to develop MS. © 2011 The Author(s). European Journal of Neurology © 2011 EFNS.

  15. Interleukin-1 targeting drugs in familial Mediterranean fever: a case series and a review of the literature.

    Science.gov (United States)

    Meinzer, Ulrich; Quartier, Pierre; Alexandra, Jean-François; Hentgen, Véronique; Retornaz, Frédérique; Koné-Paut, Isabelle

    2011-10-01

    Familial Mediterranean fever (FMF) is an autosomal-recessive autoinflammatory disorder common in Mediterranean populations. FMF is associated with mutations of the MEFV gene, which encodes pyrin. Functional studies suggest that pyrin is implicated in the maturation and secretion of IL-1. The IL-1 receptor antagonist or anti-IL1 monoclonal antibody may therefore represent a new approach to treat FMF. The aim of this report was to evaluate and discuss treatment of FMF with interleukin-1 targeting drugs. Electronic mailing lists of French pediatric and adult rheumatologist associations were used to call for FMF patients treated with interleukin-1 antagonists. A search for published FMF patients treated with interleukin-1 targeting drugs was performed by screening PubMed. Here, we report 7 cases of FMF patients treated with anakinra and/or canakinumab and discuss the clinical situations that may indicate the use of IL-1 blocking agents in FMF. The use of interleukin-1 targeting drugs was beneficial to all patients. The reasons for using interleukin-1 targeting drugs in FMF patients were as follows: (1) incomplete control of disease activity despite colchicine treatment; (2) high serum amyloid A levels despite colchicine treatment; (3) impossibility to use colchicine treatment because of severe side effects; (4) FMF in association with vasculitis. Interleukin-1 targeting drugs may be good candidates when looking for an alternative or supplementary treatment to colchicine. These observations highlight the need for controlled trials to further evaluate the safety and efficacy of interleukin-1 antagonists in FMF patients. Copyright © 2011 Elsevier Inc. All rights reserved.

  16. Typhoid fever: case report and literature review.

    Science.gov (United States)

    Sanhueza Palma, Natalia Carolina; Farías Molina, Solange; Calzadilla Riveras, Jeannette; Hermoso, Amalia

    2016-06-21

    Typhoid fever remains a major health problem worldwide, in contrast to Chile, where this disease is an isolated finding. Clinical presentation is varied, mainly presenting with fever, malaise, abdominal discomfort, and nonspecific symptoms often confused with other causes of febrile syndrome. We report a six-year-old, male patient presenting with fever of two weeks associated with gastrointestinal symptoms, malaise, hepatomegaly and elevated liver enzymes. Differential diagnoses were considered and a Widal reaction and two blood cultures were requested; both came back positive, confirming the diagnosis of typhoid fever caused by Salmonella typhi. Prior to diagnosis confirmation, empirical treatment was initiated with ceftriaxone and metronidazole, with partial response; then drug therapy was adjusted according to ciprofloxacin susceptibility testing with a favorable clinical response. We discuss diagnostic methods and treatment of enteric fever with special emphasis on typhoid fever.

  17. Prevention of lassa Fever in Nigeria.

    Science.gov (United States)

    Inegbenebor, Ute; Okosun, John; Inegbenebor, Josephine

    2010-01-01

    Although specific treatment is available for Lassa fever, early diagnosis is still difficult in most Nigerian primary and secondary health centers. This study was carried out to compare the case-fatality rates of Lassa fever and other medical diseases commonly seen in adult medical wards, to determine the community habits that make Lassa fever endemic in Edo Central District of Nigeria, with the aim of prescribing preventive measures for its control in Nigeria. The records of 908 inpatients in the adult medical wards of Irrua Specialist Teaching Hospital, Irrua and responses from respondents interviewed by trained interviewers on their knowledge, attitudes and practices pertaining to Lassa fever were used for this study. The case-fatality rate of Lassa fever in this center was 28%. Cultural factors and habits were found to favor endemicity of Lassa fever in Edo Central District of Nigeria. Preventive measures were prescribed for families and communities.

  18. Fever of unknown origin in returning travellers.

    Science.gov (United States)

    Korzeniewski, Krzysztof; Gaweł, Bartłomiej; Krankowska, Dagny; Wasilczuk, Katarzyna

    2015-01-01

    The aim of the article is to discuss issues associated with the occurrence of febrile illnesses in leisure and business travellers, with a particular emphasis on fevers of unknown origin (FUO). FUO, apart from diarrhoeas, respiratory tract infections and skin lesions, are one of the most common health problems in travellers to tropical and subtropical countries. FUO are manifestations of various diseases, typically of infectious or invasive aetiology. In one out of 3 cases, the cause of a fever in travellers returning from the hot climate zone is malaria, and therefore diagnostic tests should first aim at ruling out this specific disease entity. Other illnesses with persistent fever include dengue, enteric fever, viral hepatitis A, bacterial diarrhoeas and rickettsioses. Fever may also occur in travellers suffering from diseases of non-tropical origin, e.g. cosmopolitan respiratory tract or urinary tract infections, also, fever may coexist with other illnesses or injuries (skin rashes, bites, burns).

  19. relapsing fever, a disappearing cause of fever and maternal death in ...

    African Journals Online (AJOL)

    2013-04-01

    Apr 1, 2013 ... Objective: To study the incidence of tick borne relapsing fever (TBRF) during the last. 50 years ... fever was a disease of major worldwide importance, affecting ... of Diseases (ICD) of the World Health Organization. Reporting ...

  20. [Postoperative fever in orthopedic and urologic surgery].

    Science.gov (United States)

    Saavedra, Federico; Myburg, Cristina; Lanfranconi, Marisa B; Urtasun, Martin; De Oca, Luis Montes; Silberman, Andres; Lambierto, Alberto; Gnocchi, Cesar A

    2008-01-01

    Post-operative fever incidence varies widely. In clean and clean-contaminated surgery the non-infectious fever is more frequent than the infectious fever. We performed a prospective study including 303 patients who underwent orthopedic and urologic elective surgery. The aims of our study were to investigate the incidence of post-operative fever, its etiology, the relationship between time of onset and the etiology, and the usefulness of extensive fever work-up to determine post-operative infection. The incidence of post-operative fever was 14% (42/303) of which 81% (34/42) was noninfectious and 19% (8/42) was infectious. The etiology of the fever in the first 48 hours after surgery was always non-infectious (p fever work-up was performed in patients who presented fever only after the initial 48 hours of surgery with normal physical examination (n = 19) consisting of chest x-ray, blood (2) and urine cultures. The chest x-ray was normal in all the patients, the urine cultures were positive in four cases (21%, IC 95%: 6-45) and the blood cultures in only one case (5%, IC 95%: 0.1-26). Seven patients had post-operative infections without fever as a clinical sign. The most frequently observed etiology of post-operative fever was non-infectious, related to the normal inflammatory host response to surgery. Based on the present results, the extensive fever work-up performed to investigate post-operative infection does not seem to be a useful tool. The diagnosis of post-operative infection was based on clinical follow up and the correct interpretation of the patient's symptoms and signs.

  1. Fever of Unknown Origin: An Unusual Case

    OpenAIRE

    Bansal, R. A.; Hayman, G. R.; Bansal, A. S.

    2011-01-01

    Recurrent episodic fever of unknown origin (FUO) arising from tumour of the gastrointestinal tract is rare. We report an otherwise healthy 62-year-old man with recurrent circumscribed bouts of fever and raised CRP for 3 years who has remained well and fever-free 2 years after the removal of a well-differentiated adenocarcinoma of the colon. Occult colonic neoplasm should be considered and sought when routine investigations for FUO are negative.

  2. Advanced heart block in acute rheumatic fever.

    Science.gov (United States)

    Hubail, Zakariya; Ebrahim, Ishaq M

    2016-04-01

    First degree heart block is considered a minor criterion for the diagnosis of this condition. The cases presented here demonstrate that higher degrees of heart block do occur in rheumatic fever. Children presenting with acquired heart block should be worked-up for rheumatic fever. Likewise, it is imperative to serially follow the electrocardiogram in patients already diagnosed with acute rheumatic fever, as the conduction abnormalities can change during the course of the disease.

  3. Advanced heart block in acute rheumatic fever

    OpenAIRE

    2015-01-01

    First degree heart block is considered a minor criterion for the diagnosis of this condition. The cases presented here demonstrate that higher degrees of heart block do occur in rheumatic fever. Children presenting with acquired heart block should be worked-up for rheumatic fever. Likewise, it is imperative to serially follow the electrocardiogram in patients already diagnosed with acute rheumatic fever, as the conduction abnormalities can change during the course of the disease.

  4. Vaccines for preventing typhoid fever.

    Science.gov (United States)

    Anwar, Elspeth; Goldberg, Elad; Fraser, Abigail; Acosta, Camilo J; Paul, Mical; Leibovici, Leonard

    2014-01-02

    Typhoid fever and paratyphoid fever continue to be important causes of illness and death, particularly among children and adolescents in south-central and southeast Asia. Two typhoid vaccines are commercially available, Ty21a (oral) and Vi polysaccharide (parenteral), but neither is used routinely. Other vaccines, such as a new, modified, conjugated Vi vaccine called Vi-rEPA, are in development. To evaluate the efficacy and adverse effects of vaccines used to prevent typhoid fever. In June 2013, we searched the Cochrane Infectious Diseases Group Specialized Register, CENTRAL, MEDLINE, EMBASE, LILACS, and mRCT. We also searched relevant conference proceedings up to 2013 and scanned the reference lists of all included trials. Randomized and quasi-randomized controlled trials (RCTs) comparing typhoid fever vaccines with other typhoid fever vaccines or with an inactive agent (placebo or vaccine for a different disease). Two review authors independently applied inclusion criteria and extracted data. We computed vaccine efficacy per year of follow-up and cumulative three-year efficacy, stratifying for vaccine type and dose. The outcome addressed was typhoid fever, defined as isolation of Salmonella typhi in blood. We calculated risk ratios (RRs) and efficacy (1-RR as a percentage) with 95% confidence intervals (CIs). In total, 18 RCTs were included in this review; 12 evaluated efficacy (Ty21a: five trials; Vi polysaccharide: six trials; Vi-rEPA: one trial), and 11 reported on adverse events. Ty21a vaccine (oral vaccine, three doses) A three-dose schedule of Ty21a vaccine prevents around one-third to one-half of typhoid cases in the first two years after vaccination (Year 1: 35%, 95% CI 8% to 54%; Year 2: 58%, 95% CI 40% to 71%; one trial, 20,543 participants; moderate quality evidence; data taken from a single trial conducted in Indonesia in the 1980s). No benefit was detected in the third year after vaccination. Four additional cluster-RCTs have been conducted, but the

  5. [Differential diagnosis in fever of unknown origin].

    Science.gov (United States)

    Huppertz, H-I

    2006-11-01

    Fever is one of the most frequent and important symptoms in pediatrics. Most cases are caused by self-limiting viral or easily treatable bacterial infections. If after 5-7 days no cause of the ongoing fever has been found, the condition is termed fever of unknown origin, a working diagnosis which often poses a diagnostic challenge. The ultimate cause may be an infectious disease, a chronic inflammatory disorder, a malignancy, or another rare disease. The cause may also remain obscure or the fever can finally disappear. Here we elaborate the diagnostic work-up and symptomatic treatment.

  6. Locus heterogeneity in autosomal dominant spinocerebellar ataxia: Evidence for the existence of a fifth locus

    Energy Technology Data Exchange (ETDEWEB)

    Sarrazin, J.; Rouleau, G.A. [Montreal General Hospital, Quebec (Canada); Andermann, E. [Montreal Neurological Institute and Hospital, Quebec (Canada)] [and others

    1994-09-01

    The autosomal dominantly inherited spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders. To date, four loci have been identified: the SCA-1 locus (on chromosome (chr) 6p), the SCA-2 locus (on chr 12q), the SCA-3/MJD locus (on chr 14q), and more recently an SCA-4 locus was described (chr 16q) in a Utah kindred. We have studied one large French Canadian kindred with four generations of living affected individuals segregating an autosomal dominant form of SCA. Linkage analysis using anonymous DNA markers which flank the four previously described loci significantly excludes the French Canadian kindred from the SCA-1, SCA-2, SCA-3/MJD and SCA-4 loci. Therefore a fifth, still unmapped, SCA locus remains to be identified.

  7. Describing the Breakbone Fever: IDODEN, an Ontology for Dengue Fever

    Science.gov (United States)

    Mitraka, Elvira; Topalis, Pantelis; Dritsou, Vicky; Dialynas, Emmanuel; Louis, Christos

    2015-01-01

    Background Ontologies represent powerful tools in information technology because they enhance interoperability and facilitate, among other things, the construction of optimized search engines. To address the need to expand the toolbox available for the control and prevention of vector-borne diseases we embarked on the construction of specific ontologies. We present here IDODEN, an ontology that describes dengue fever, one of the globally most important diseases that are transmitted by mosquitoes. Methodology/Principal Findings We constructed IDODEN using open source software, and modeled it on IDOMAL, the malaria ontology developed previously. IDODEN covers all aspects of dengue fever, such as disease biology, epidemiology and clinical features. Moreover, it covers all facets of dengue entomology. IDODEN, which is freely available, can now be used for the annotation of dengue-related data and, in addition to its use for modeling, it can be utilized for the construction of other dedicated IT tools such as decision support systems. Conclusions/Significance The availability of the dengue ontology will enable databases hosting dengue-associated data and decision-support systems for that disease to perform most efficiently and to link their own data to those stored in other independent repositories, in an architecture- and software-independent manner. PMID:25646954

  8. Dengue fever and dengue haemorrhagic fever in adolescents and adults.

    Science.gov (United States)

    Tantawichien, Terapong

    2012-05-01

    Dengue fever (DF) is endemic in tropical and subtropical zones and the prevalence is increasing across South-east Asia, Africa, the Western Pacific and the Americas. In recent years, the spread of unplanned urbanisation, with associated substandard housing, overcrowding and deterioration in water, sewage and waste management systems, has created ideal conditions for increased transmission of the dengue virus in tropical urban centres. While dengue infection has traditionally been considered a paediatric disease, the age distribution of dengue has been rising and more cases have been observed in adolescents and adults. Furthermore, the development of tourism in the tropics has led to an increase in the number of tourists who become infected, most of whom are adults. Symptoms and risk factors for dengue haemorrhagic fever (DHF) and severe dengue differ between children and adults, with co-morbidities and incidence in more elderly patients associated with greater risk of mortality. Treatment options for DF and DHF in adults, as for children, centre round fluid replacement (either orally or intravenously, depending on severity) and antipyretics. Further data are needed on the optimal treatment of adult patients.

  9. Fever-Induced Brugada Syndrome

    Directory of Open Access Journals (Sweden)

    Sandhya Manohar MD

    2015-03-01

    Full Text Available Brugada syndrome is increasingly recognized as a cause of sudden cardiac death. Many of these patients do not get diagnosed due its dynamic and often hidden nature. We have come a long way in understanding the disease process, and its electrophysiology appears to be intimately linked with sodium channel mutations or disorders. The cardiac rhythm in these patients can deteriorate into fatal ventricular arrhythmias. This makes it important for the clinician to be aware of the conditions in which arrhythmogenicity of Brugada syndrome is revealed or even potentiated. We present such an instance where our patient’s Brugada syndrome was unmasked by fever.

  10. Fever Through a Jaundiced Eye

    Directory of Open Access Journals (Sweden)

    Christina C. Kennelly MD

    2014-04-01

    Full Text Available Pyogenic liver abscess (PLA is an important clinical entity to consider in a patient with fever and abdominal pain. Previously, the condition was difficult to diagnose and treat, but with the introduction of widely available and reliable imaging techniques, its diagnosis has become more straightforward. Although uncommon, PLA should especially be considered in the differential diagnosis for patients with specific predisposing conditions such as underlying biliary tract disease, whether as a result of chronic inflammatory disease or malignancy. The introduction of percutaneous drainage has revolutionized the management of PLA, and thus, this disease has become largely correctable.

  11. Caregivers' perceptions of childhood fever in Ilorin, North-Central ...

    African Journals Online (AJOL)

    Caregivers' perceptions of childhood fever in Ilorin, North-Central Nigeria. ... The aim was to determine knowledge and attitudes of parents regarding fever in their ... at all contacts with the healthcare system on fever, and its management.

  12. [Q fever: a cause of fever of unknown origin in Switzerland].

    Science.gov (United States)

    Fischer, L; Garin, N; Péter, O; Praz, G

    2012-10-10

    We describe two cases of Q fever in previously healthy women presenting with fever of unknown origin. The diagnosis was made after several days of investigations. Symptoms and signs of acute or chronic Coxiella burnetii infection are protean and non-specific. Q fever should be included in the differential diagnosis of fever of unknown origin and appropriate serologic studies should be done. We review the clinical presentation of Q fever. Use of serology for the diagnosis and the follow-up is discussed.

  13. Fever

    Science.gov (United States)

    ... child is overdressed or in a hot place. Febrile seizures do occur in some children. Most febrile seizures are over quickly and do not mean your ... the flu - what to ask your doctor - child Febrile seizures - what to ask your doctor When your baby ...

  14. Fever

    Science.gov (United States)

    ... 1, use an oral rehydration solution such as Pedialyte. These solutions contain water and salts proportioned to replenish fluids and electrolytes. Pedialyte ice pops also are available. Rest. You need ...

  15. Leptospirosis presenting as honeymoon fever.

    Science.gov (United States)

    de Sainte Marie, B; Delord, M; Dubourg, G; Gautret, P; Parola, P; Brouqui, P; Lagier, J C

    2015-05-01

    An increasing number of travelers from western countries visit tropical regions, questioning western physicians on the prophylaxis, the diagnosis and the therapeutic management of patients with travel-associated infection. In July 2014, a French couple stayed for an adventure-travel in Columbia without malaria prophylaxis. A week after their return the woman presented with fever, myalgia, and retro-orbital pain. Three days later, her husband presented similar symptoms. In both patients, testing for malaria, arboviruses and blood cultures remained negative. An empirical treatment with doxycycline and ceftriaxone was initiated for both patients. Serum collected from the female patient yielded positive IgM for leptospirosis but was negative for her husband. Positive Real-Time PCR were observed in blood and urine from both patients, confirming leptospirosis. Three lessons are noteworthy from this case report. First, after exclusion of malaria, as enteric fever, leptospirosis and rickettsial infection are the most prevalent travel-associated infections, empirical treatment with doxycycline and third generation cephalosporin should be considered. In addition, the diagnosis of leptospirosis requires both serology and PCR performed in both urine and blood samples. Finally, prophylaxis using doxycycline, also effective against leptospirosis, rickettsial infections or travellers' diarrhea should be recommended for adventure travelers in malaria endemic areas.

  16. A model of dengue fever

    Directory of Open Access Journals (Sweden)

    Boutayeb A

    2003-02-01

    Full Text Available Abstract Background Dengue is a disease which is now endemic in more than 100 countries of Africa, America, Asia and the Western Pacific. It is transmitted to the man by mosquitoes (Aedes and exists in two forms: Dengue Fever and Dengue Haemorrhagic Fever. The disease can be contracted by one of the four different viruses. Moreover, immunity is acquired only to the serotype contracted and a contact with a second serotype becomes more dangerous. Methods The present paper deals with a succession of two epidemics caused by two different viruses. The dynamics of the disease is studied by a compartmental model involving ordinary differential equations for the human and the mosquito populations. Results Stability of the equilibrium points is given and a simulation is carried out with different values of the parameters. The epidemic dynamics is discussed and illustration is given by figures for different values of the parameters. Conclusion The proposed model allows for better understanding of the disease dynamics. Environment and vaccination strategies are discussed especially in the case of the succession of two epidemics with two different viruses.

  17. Rheumatic fever in New Zealand.

    Science.gov (United States)

    Webb, Rachel; Wilson, Nigel

    2013-03-01

    Acute rheumatic fever and its sequel rheumatic heart disease remain major unsolved problems in New Zealand, causing significant morbidity and premature death. The disease burden affects predominantly indigenous Māori and Pacific Island children and young adults. In the past decade these ethnic disparities are even widening. Secondary prophylaxis using 28-day intramuscular penicillin has been the mainstay of disease control. In the greater Auckland region, audit shows community nurse-led penicillin delivery rates of 95% and recurrence rates of less than 5%. The true penicillin failure rate of 0.07 per 100 patient years supports 4 weekly penicillin rather than more frequent dose regimens. Landmark primary prevention research has been undertaken supporting sore throat primary prevention programmes in regions with very high rheumatic fever rates. Echocardiographic screening found 2.4% previously undiagnosed rheumatic heart disease in socially disadvantaged children. Combined with secondary prevention, echocardiography screening has the potential to reduce the prevalence of severe rheumatic heart disease.

  18. FAMILIAL MEDITERRANEAN FEVER AND HYPERCOAGULABILITY

    Directory of Open Access Journals (Sweden)

    Oshrat E. Tayer-Shifman

    2011-05-01

    Full Text Available Familial Mediterranean fever (FMF is an autosomal recessive hereditary disease which is characterized by recurrent attacks of fever and peritonitis, pleuritis, arthritis, or erysipelas-like skin disease. As such, FMF is a prototype of autoinflammatory diseases where genetic changes lead to acute inflammatory episodes. Systemic inflammation – in general - may increase procoagulant factors, and decrease natural anticoagulants and fibrinolytic activity. Therefore, it is anticipated to see more thrombotic events among FMF patients compared with healthy subjects. However, reviewing the current available literature and based upon our personal experience, thrombotic events related purely to FMF are very rare. Possible explanation for this discrepancy is that along with the procoagulant activity during FMF acute attacks, anticoagulant and fibrinolytic changes are also taking place. Furthermore, it may well be that during the acute attack of FMF the procoagulant factors are consumed or used for the purpose of inflammation so that nothing is left for their role in the coagulation pathway. Colchicine may also play a role in reducing inflammation thereby decreasing hypercoagulabilty

  19. Biomarkers of fever: from bench to bedside

    NARCIS (Netherlands)

    M. Limper (Maarten)

    2014-01-01

    markdownabstract__Abstract__ This thesis aims to study biomarkers in inflammation and infection, with a special focus on the distinction between infectious and non-infectious fever. The thesis consists of three parts, part I being this introduction, in which the concept of fever in infectious and n

  20. Chronic Q fever in The Netherlands

    NARCIS (Netherlands)

    Kampschreur, L.M.

    2013-01-01

    From 2007-2010, during the recent Q fever epidemic in the Netherlands, over 4000 cases of acute Q fever were registered, which is an underestimation of the total amount of Coxiella burnetii infections due to a high amount of asymptomatic primary infections. In the literature it is stated that 1-5% o

  1. The immune response in Q fever

    NARCIS (Netherlands)

    Schoffelen, T.

    2015-01-01

    Q fever is an infection caused by the bacterium Coxiella burnetii. A large outbreak of Q fever occurred in the Netherlands between 2007 and 2010, in which infected goats and sheep were the source of human infections. In some people, so-called ‘chronic Q fever’ develops, which mainly manifests as end

  2. Classical Swine Fever Virus-Rluc Replicons

    DEFF Research Database (Denmark)

    Risager, Peter Christian; Belsham, Graham J.; Rasmussen, Thomas Bruun

    Classical swine fever virus (CSFV) is the etiologic agent of the severe porcine disease, classical swine fever. Unraveling the molecular determinants of efficient replication is crucial for gaining proper knowledge of the pathogenic traits of this virus. Monitoring the replication competence within...

  3. Unexpected Rift Valley fever outbreak, northern Mauritania.

    Science.gov (United States)

    El Mamy, Ahmed B O; Baba, Mohamed Ould; Barry, Yahya; Isselmou, Katia; Dia, Mamadou L; El Kory, Mohamed O B; Diop, Mariam; Lo, Modou Moustapha; Thiongane, Yaya; Bengoumi, Mohammed; Puech, Lilian; Plee, Ludovic; Claes, Filip; de La Rocque, Stephane; Doumbia, Baba

    2011-10-01

    During September-October 2010, an unprecedented outbreak of Rift Valley fever was reported in the northern Sahelian region of Mauritania after exceptionally heavy rainfall. Camels probably played a central role in the local amplification of the virus. We describe the main clinical signs (hemorrhagic fever, icterus, and nervous symptoms) observed during the outbreak.

  4. Rift Valley fever outbreak, southern Mauritania, 2012.

    Science.gov (United States)

    Sow, Abdourahmane; Faye, Ousmane; Ba, Yamar; Ba, Hampathé; Diallo, Diawo; Faye, Oumar; Loucoubar, Cheikh; Boushab, Mohamed; Barry, Yahya; Diallo, Mawlouth; Sall, Amadou Alpha

    2014-02-01

    After a period of heavy rainfall, an outbreak of Rift Valley fever occurred in southern Mauritania during September-November 2012. A total of 41 human cases were confirmed, including 13 deaths, and 12 Rift Valley fever virus strains were isolated. Moudjeria and Temchecket Departments were the most affected areas.

  5. Rocky Mountain spotted fever in children.

    Science.gov (United States)

    Woods, Charles R

    2013-04-01

    Rocky Mountain spotted fever is typically undifferentiated from many other infections in the first few days of illness. Treatment should not be delayed pending confirmation of infection when Rocky Mountain spotted fever is suspected. Doxycycline is the drug of choice even for infants and children less than 8 years old.

  6. [Familial Mediterranean fever: not to be missed

    NARCIS (Netherlands)

    Frenkel, J.; Bemelman, F.J.; Potter van Loon, B.J.; Simon, A.

    2013-01-01

    Familial Mediterranean fever (FMF) is common among Turkish and Moroccan migrants. We describe three patients with FMF. A 3-year-old girl with recurrent fever and abdominal pain who was diagnosed early with FMF and treated effectively with colchicine. An adolescent girl who required interleukin

  7. Valley Fever (Coccidioidomycosis) Risk and Prevention

    Science.gov (United States)

    ... fungal spores. The following are some common-sense methods that may be helpful to avoid getting Valley fever. It’s important to know that although these steps are recommended, they haven’t been proven to prevent Valley fever. ... information about respirators. Stay inside during dust storms and ...

  8. Dengue hemorrhagic fever complicated by pancreatitis

    Directory of Open Access Journals (Sweden)

    Guido Ricardo Gonzalez Fontal

    2011-10-01

    Full Text Available Acute pancreatitis is an atypical complication of dengue fever and is rarely described. We are reporting a case of dengue hemorrhagic fever complicated by acute pancreatitis in a patient with history of diabetes mellitus type 1 and end stage renal disease on hemodialysis.

  9. Ask Dr. Sue: "Children and Fevers."

    Science.gov (United States)

    Aronson, Susan S.

    1989-01-01

    Considers aspects of children's fevers. Answers questions concerning: (1) the temperature at which a fever is infectious; (2) the point at which a feverish child in care should be sent home; (3) the length of time a parent should wait before returning the child to day care; and (4) the way to take a child's temperature. (RJC)

  10. [Diagnostic approach to fever of unknown origin

    NARCIS (Netherlands)

    Bleeker-Rovers, C.P.; Meer, J.W.M. van der

    2008-01-01

    Nowadays, fever of unknown origin (FUO) is generally defined as a fever higher than 38-3 degrees C lasting for a period of at least three weeks, in which no definitive diagnosis has been made after a number of obligatory tests. A diagnostic algorithm is proposed in which history taking, physical

  11. Bickerstaff's brainstem encephalitis associated with typhoid fever.

    OpenAIRE

    Wali, G M

    1991-01-01

    A 14 year old boy developed the syndrome of Bickerstaff's brainstem encephalitis during the course of bacteriologically proved typhoid fever. The clinical course and the results of various neurological investigations are detailed. This report adds a further manifestation to the published neuropsychiatric complications of typhoid fever.

  12. The immune response in Q fever

    NARCIS (Netherlands)

    Schoffelen, T.

    2015-01-01

    Q fever is an infection caused by the bacterium Coxiella burnetii. A large outbreak of Q fever occurred in the Netherlands between 2007 and 2010, in which infected goats and sheep were the source of human infections. In some people, so-called ‘chronic Q fever’ develops, which mainly manifests as

  13. Chronic Q fever in The Netherlands

    NARCIS (Netherlands)

    Kampschreur, L.M.

    2013-01-01

    From 2007-2010, during the recent Q fever epidemic in the Netherlands, over 4000 cases of acute Q fever were registered, which is an underestimation of the total amount of Coxiella burnetii infections due to a high amount of asymptomatic primary infections. In the literature it is stated that 1-5%

  14. Typhoid fever: the experience of last decade

    Directory of Open Access Journals (Sweden)

    A. N. Kovalenko

    2009-01-01

    Full Text Available This article is about analyses of diagnostics and treatment of the modern typhoid fever. In the past typhoid fever was critical and lifethreatening inflectional disease. But nowadays thanks to using of chloramphenicol and other antimicrobial preparations, typhoid fever is serious but well curable disease. In the second part of the 20th century the number of typhoid fever cases has decreased. As a result a new generation of physicians, who has never come across this disease, appeared. Nowadays typhoid fever is still actual for practical public health in Russia. There are two causes: first, there is a risk of delivery of infections with tourists and immigrants. Second, the small number of physicians, who possess well knowledge of clinical features and modern therapy.

  15. Viral haemorrhagic fevers in healthcare settings.

    Science.gov (United States)

    Ftika, L; Maltezou, H C

    2013-03-01

    Viral haemorrhagic fevers (VHFs) typically manifest as rapidly progressing acute febrile syndromes with profound haemorrhagic manifestations and very high fatality rates. VHFs that have the potential for human-to-human transmission and onset of large nosocomial outbreaks include Crimean-Congo haemorrhagic fever, Ebola haemorrhagic fever, Marburg haemorrhagic fever and Lassa fever. Nosocomial outbreaks of VHFs are increasingly reported nowadays, which likely reflects the dynamics of emergence of VHFs. Such outbreaks are associated with an enormous impact in terms of human lives and costs for the management of cases, contact tracing and containment. Surveillance, diagnostic capacity, infection control and the overall preparedness level for management of a hospital-based VHF event are very limited in most endemic countries. Diagnostic capacities for VHFs should increase in the field and become affordable. Availability of appropriate protective equipment and education of healthcare workers about safe clinical practices and infection control is the mainstay for the prevention of nosocomial spread of VHFs.

  16. Familial Mediterranean Fever: An Unusual Case Presentation.

    Science.gov (United States)

    Soora, Raksha; Nicandri, Katrina

    2015-12-01

    Familial Mediterranean Fever is a heritable illness typically characterized by recurrent fevers and serositis. Triggers of this illness include many things, such as cold or stress. This case describes a teenager who initially presented to the gynecologist office because of recurrent fevers with menses. Because she only had symptoms with menses, was healthy between attacks, and met the Livneh criteria, treatment with colchicine and combined oral contraceptive pills was initiated, with improvement of her symptoms. There are multiple etiologies for febrile illness during menses, and one should consider familial Mediterranean fever as a possible cause of cyclic fevers. Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  17. Educational Fever and South Korean Higher Education

    Directory of Open Access Journals (Sweden)

    Jeong-Kyu Lee

    2006-05-01

    Full Text Available This paper examines the influence of educational fever on the development of the Republic of Korea education and economy in the context of the cultural history of this country. In order to examine this study, the author explains the concept of educational fever and discusses the relation between Confucianism and education zeal. Educational fever and human capitalization in South Korean higher education are analyzed from a comparative viewpoint. The study evaluates the effects and problems of education fever this country’s current higher education, and it concludes that Koreans’ educational fever has been a core factor by which to achieve the development of the national economy as well as the rapid expansion of higher education.

  18. The geographical distribution of Q fever.

    Science.gov (United States)

    KAPLAN, M M; BERTAGNA, P

    1955-01-01

    The results of a WHO-assisted survey of the distribution of Q fever in 32 countries and an analysis of reports published to date indicate that Q fever exists in 51 countries on five continents. Q-fever infection was most often reported in man and the domestic ruminants, such as cattle, sheep, and goats.The disease was found to exist in most countries where investigations were carried out. Notable exceptions were Ireland, the Netherlands, New Zealand, Poland, and the Scandinavian countries. With the exception of Poland, where the results were inconclusive, all these countries import relatively few domestic ruminants-the most important animal reservoirs of human Q-fever infection. It seems, therefore, that the traffic of infected ruminants may be one of the most important, if not the most important, means for the geographical spread of Q fever. The importance, if any, of ticks associated with such traffic needs to be defined.

  19. Fever management: Evidence vs current practice.

    Science.gov (United States)

    El-Radhi, A Sahib Mehdi

    2012-12-08

    Fever is a very common complaint in children and is the single most common non-trauma-related reason for a visit to the emergency department. Parents are concerned about fever and it's potential complications. The biological value of fever (i.e., whether it is beneficial or harmful) is disputed and it is being vigorously treated with the belief of preventing complications such as brain injury and febrile seizures. The practice of alternating antipyretics has become widespread at home and on paediatric wards without supporting scientific evidence. There is still a significant contrast between the current concept and practice, and the scientific evidence. Why is that the case in such a common complaint like fever The article will discuss the significant contrast between the current concepts and practice of fever management on one hand, and the scientific evidence against such concepts and practice.

  20. Milk fever control principles: a review

    DEFF Research Database (Denmark)

    Thilsing-Hansen, T; Jørgensen, R J; Østergaard, S

    2002-01-01

    Three main preventive principles against milk fever were evaluated in this literature review, and the efficacy of each principle was estimated from the results of controlled investigations. Oral calcium drenching around calving apparently has a mean efficacy of 50%-60% in terms of milk fever...... prevention as well as prevention of milk fever relapse after intravenous treatment with calcium solutions. However, some drenches have been shown to cause lesions in the forestomacs. When using the DCAD (dietary cation-anion difference) principle, feeding rations with a negative DCAD (measured as (Na + K......)-(Cl + S)) significantly reduce the milk fever incidence. Calculating the relative risk (RR) of developing milk fever from controlled experiments results in a mean RR between 0.19 and 0.35 when rations with a negative versus positive DCAD are compared. The main drawback from the DCAD principle...

  1. Rat Bite Fever Resembling Rheumatoid Arthritis

    Directory of Open Access Journals (Sweden)

    Ripa Akter

    2016-01-01

    Full Text Available Rat bite fever is rare in Western countries. It can be very difficult to diagnose as blood cultures are typically negative and a history of rodent exposure is often missed. Unless a high index of suspicion is maintained, the associated polyarthritis can be mistaken for rheumatoid arthritis. We report a case of culture-positive rat bite fever in a 46-year-old female presenting with fever and polyarthritis. The clinical presentation mimicked rheumatoid arthritis. Infection was complicated by discitis, a rare manifestation. We discuss the diagnosis and management of this rare zoonotic infection. We also review nine reported cases of rat bite fever, all of which had an initial presumptive diagnosis of a rheumatological disorder. Rat bite fever is a potentially curable infection but can have a lethal course if left untreated.

  2. Typhoid fever and paratyphoid fever: Systematic review to estimate global morbidity and mortality for 2010

    Science.gov (United States)

    Buckle, Geoffrey C.; Walker, Christa L. Fischer; Black, Robert E.

    2012-01-01

    Background Typhoid and paratyphoid fever remain important causes of morbidity worldwide. Accurate disease burden estimates are needed to guide policy decisions and prevention and control strategies. Methods We conducted a systematic literature review of the PubMed and Scopus databases using pre-defined criteria to identify population-based studies with typhoid fever incidence data published between 1980 and 2009. We also abstracted data from annual reports of notifiable diseases in countries with advanced surveillance systems. Typhoid and paratyphoid fever input data were grouped into regions and regional incidence and mortality rates were estimated. Incidence data were extrapolated across regions for those lacking data. Age-specific incidence rates were derived for regions where age-specific data were available. Crude and adjusted estimates of the global typhoid fever burden were calculated. Results Twenty-five studies were identified, all of which contained incidence data on typhoid fever and 12 on paratyphoid fever. Five advanced surveillance systems contributed data on typhoid fever; 2 on paratyphoid fever. Regional typhoid fever incidence rates ranged from typhoid fever episodes in 2010 was 13.5 million (interquartile range 9.1–17.8 million). The adjusted estimate accounting for the low sensitivity of blood cultures for isolation of the bacteria was 26.9 million (interquartile range 18.3–35.7 million) episodes. These findings are comparable to the most recent analysis of global typhoid fever morbidity, which reported crude and adjusted estimates of 10.8 million and 21.7 million typhoid fever episodes globally in 2000. Conclusion Typhoid fever remains a significant health burden, especially in low- and middle-income countries. Despite the availability of more recent data on both enteric fevers, additional research is needed in many regions, particularly Africa, Latin America and other developing countries. PMID:23198130

  3. Fever after percutaneous nephrolithotomy: contributing factors.

    Science.gov (United States)

    Sharifi Aghdas, Farzaneh; Akhavizadegan, Hamed; Aryanpoor, Aryan; Inanloo, Hassan; Karbakhsh, Mojgan

    2006-08-01

    The exact mechanism of fever and urosepsis after percutaneous procedures has not been established. This research studied the frequency of fever after percutaneous nephrolithotomy (PCNL) and the contributing factors. In a cross-sectional study, from September 2003 to March 2004, all 217 patients with nephrolithiasis treated with PCNL at the Labbafinegad Specialized Urology Center were studied. Data were collected before, during, and after surgery. The frequency of fever after PCNL was 25.8% (n=56) although in 62.2% of the cases (n=135), no prophylactic antibiotics had been administered. The mean durations of hospitalization in patients with and without fever were 5.4+/-2.3 and 3.4+/-1.7 days, respectively (p=0.001). Significant correlations were observed between fever and female sex (p=0.005), positive urine culture (p=0.02), and nephrostomy tube insertion (p=0.041). Other variables did not prove to be significant. In logistic regression analysis, female sex and nephrostomy tube insertion were independently related to post-operative fever. Although a considerable proportion of our patients had not received prophylactic antibiotics, the rate of fever after PCNL was no higher than is reported in the literature. Use of only a short course of antibiotics before surgery for staghorn stones did not result in a higher rate of fever. Female sex created a higher risk for fever, probably because of the greater propensity to urinary tract infection. The significant relation of a nephrostomy tube to fever could be attributed to its role as a foreign body or to use in more complicated cases.

  4. A suppressor locus for MODY3-diabetes

    Science.gov (United States)

    Garcia-Gonzalez, Miguel A.; Carette, Claire; Bagattin, Alessia; Chiral, Magali; Makinistoglu, Munevver Parla; Garbay, Serge; Prévost, Géraldine; Madaras, Cécile; Hérault, Yann; Leibovici, Michel; Pontoglio, Marco

    2016-01-01

    Maturity Onset Diabetes of the Young type 3 (MODY3), linked to mutations in the transcription factor HNF1A, is the most prevalent form of monogenic diabetes mellitus. HNF1alpha-deficiency leads to defective insulin secretion via a molecular mechanism that is still not completely understood. Moreover, in MODY3 patients the severity of insulin secretion can be extremely variable even in the same kindred, indicating that modifier genes may control the onset of the disease. With the use of a mouse model for HNF1alpha-deficiency, we show here that specific genetic backgrounds (C3H and CBA) carry a powerful genetic suppressor of diabetes. A genome scan analysis led to the identification of a major suppressor locus on chromosome 3 (Moda1). Moda1 locus contains 11 genes with non-synonymous SNPs that significantly interacts with other loci on chromosomes 4, 11 and 18. Mechanistically, the absence of HNF1alpha in diabetic-prone (sensitive) strains leads to postnatal defective islets growth that is remarkably restored in resistant strains. Our findings are relevant to human genetics since Moda1 is syntenic with a human locus identified by genome wide association studies of fasting glycemia in patients. Most importantly, our results show that a single genetic locus can completely suppress diabetes in Hnf1a-deficiency. PMID:27667715

  5. Locus of Equity and Brand Extension

    NARCIS (Netherlands)

    S.M.J. van Osselaer (Stijn); J.W. Alba (Joseph)

    2003-01-01

    textabstractPrevailing wisdom assumes that brand equity increases when a brand touts its desirable attributes. We report conditions under which the use of attribute information to promote a product can shift the locus of equity from brand to attribute, thereby reducing the attractiveness of extensio

  6. Locus of Equity and Brand Extension

    NARCIS (Netherlands)

    S.M.J. van Osselaer (Stijn); J.W. Alba (Joseph)

    2003-01-01

    textabstractPrevailing wisdom assumes that brand equity increases when a brand touts its desirable attributes. We report conditions under which the use of attribute information to promote a product can shift the locus of equity from brand to attribute, thereby reducing the attractiveness of extensio

  7. ACUTE UNDIFFERENTIATED FEVER IN INTENSIVE CARE UNITS

    Directory of Open Access Journals (Sweden)

    Srikanth Ram Mohan

    2014-03-01

    Full Text Available Acute undifferentiated fever (AUF is common in tropical regions of the developing world, its specific etiology is often unknown. It’s common causes include malaria, dengue fever, enteric fever, leptospirosis, rickettsial infection. AUF is defined as fever without any localised source of infection, of 14 days or less in duration. The objective of the study was to focus on identifying the causes of AUF in patients admitted to Intensive care units & to determine importance of clinical examination in identifying the cause. It was a prospective study done in our Medical college Hospital at Kolar, Karnataka between 1-11-2010 to 30-11-2011. Cases presenting to hospital aged >18 years with complaints of Fever & admitted in Intensive care units were included in study. A total of 558 cases were enrolled. The clinical findings were noted and subsequent Investigations required were asked for. The study compromised of approximately equal number of Male & Female patients & age varied from 18 – 100 years. There was a clear seasonal variation – More no of cases were admitted between April & November. Majority presented with Fever of Short duration (1-3 days. Certain well defined syndromes were identified like:  Fever with Thrombocytopenia – the most common of all the syndromes.  Fever with Myalgia & Arthralgia,  Fever with Hepatorenal dysfunction,  Fever with Encephalopathy,  Fever with Pulmonary - Renal dysfunction and  Fever with Multiorgan dysfunction (MODS. Out of 558 cases AUF was noted in 339 cases (60.86%. An etiological diagnosis could be made for 218 cases (39.06%. Leptospirosis was the commonest cause with 72 cases (12.9%. The no of cases with Dengue were 48(8.6%, Malaria –25 (4.4%, Viral fever –35 (6.2%, Mixed infections – 12 (2.1%, Pulmonary Tuberculosis -25 ( 4.4% and one case of Rickettsial Infection. MODS was the most common presentation in AUF patients, seen in 108 cases (31.8% and 40 cases expired. A study of AUF

  8. Brugada syndrome unmasked by fever.

    Science.gov (United States)

    Grogan, Scott P; Cube, Regino P; Edwards, John A

    2011-08-01

    Brugada syndrome (BS) is a cardiac rhythm disturbance that predisposes patients to sudden cardiac death. Brugada is classically described with specific electrocardiographic (EKG) findings of ST elevation and right bundle branch block in precordial leads and is an often unrecognized contributor to sudden cardiac death. We present a case of BS with cyclic EKG findings in a febrile 20-year-old active duty, Vietnamese male who presented following a witnessed syncopal event. His classic findings of Brugada pattern on EKG demonstrated reversibility with clinical defervescence. In patients with a suggestive history, a normal EKG cannot definitively rule out BS as the Brugada pattern can be unmasked by stress, which in this case was represented by a pneumonia-induced fever.

  9. FAMILIAL MEDITERRANEAN FEVER AND HYPERCOAGULABILITY

    Directory of Open Access Journals (Sweden)

    Oshrat E. Tayer-Shifman

    2011-01-01

    Full Text Available Familial Mediterranean fever (FMF is an autosomal recessive hereditary disease which is characterized by recurrent attacks of fever and peritonitis, pleuritis, arthritis, or erysipelas-like skin disease. As such, FMF is a prototype of autoinflammatory diseases where genetic changes lead to acute inflammatory episodes. Systemic inflammation – in general - may increase procoagulant factors, and decrease natural anticoagulants and fibrinolytic activity. Therefore, it is anticipated to see more thrombotic events among FMF patients compared with healthy subjects. However, reviewing the current available literature and based upon our personal experience, thrombotic events related purely to FMF are very rare. Possible explanation for this discrepancy is that along with the procoagulant activity during FMF acute attacks, anticoagulant and fibrinolytic changes are also taking place. Furthermore, it may well be that during the acute attack of FMF the procoagulant factors are consumed or used for the purpose of inflammation so that nothing is left for their role in the coagulation pathway. Colchicine may also play a role in reducing inflammation thereby decreasing hypercoagulabilty

  10. Fever in Children: Pearls and Pitfalls.

    Science.gov (United States)

    Barbi, Egidio; Marzuillo, Pierluigi; Neri, Elena; Naviglio, Samuele; Krauss, Baruch S

    2017-09-01

    Fever in children is a common concern for parents and one of the most frequent presenting complaints in emergency department visits, often involving non-pediatric emergency physicians. Although the incidence of serious infections has decreased after the introduction of conjugate vaccines, fever remains a major cause of laboratory investigation and hospital admissions. Furthermore, antipyretics are the most common medications administered to children. We review the epidemiology and measurement of fever, the meaning of fever and associated clinical signs in children of different ages and under special conditions, including fever in children with cognitive impairment, recurrent fevers, and fever of unknown origin. While the majority of febrile children have mild, self-resolving viral illness, a minority may be at risk of life-threatening infections. Clinical assessment differs markedly from adult patients. Hands-off evaluation is paramount for a correct evaluation of breathing, circulation and level of interaction. Laboratory markers and clinical prediction rules provide limited help in identifying children at risk for serious infections; however, clinical examination, prudent utilization of laboratory tests, and post-discharge guidance ("safety netting") remain the cornerstone of safe management of febrile children.

  11. Isolated fever induced by mesalamine treatment.

    Science.gov (United States)

    Slim, Rita; Amara, Joseph; Nasnas, Roy; Honein, Khalil; Jaoude, Joseph Bou; Yaghi, Cesar; Daniel, Fady; Sayegh, Raymond

    2013-02-21

    Adverse reactions to mesalamine, a treatment used to induce and maintain remission in inflammatory bowel diseases, particularly ulcerative colitis, have been described in the literature as case reports. This case illustrates an unusual adverse reaction. Our patient developed an isolated fever of unexplained etiology, which was found to be related to mesalamine treatment. A 22-year-old patient diagnosed with ulcerative colitis developed a fever with rigors and anorexia 10 d after starting oral mesalamine while his colitis was clinically resolving. Testing revealed no infection. A mesalamine-induced fever was considered, and treatment was stopped, which led to spontaneous resolution of the fever. The diagnosis was confirmed by reintroducing the mesalamine. One year later, this side effect was noticed again in the same patient after he was administered topical mesalamine. This reaction to mesalamine seems to be idiosyncratic, and the mechanism that induces fever remains unclear. Fever encountered in the course of a mesalamine treatment in ulcerative colitis must be considered a mesalamine-induced fever when it cannot be explained by the disease activity, an associated extraintestinal manifestation, or an infectious etiology.

  12. Fever in Children: Pearls and Pitfalls

    Science.gov (United States)

    Barbi, Egidio; Marzuillo, Pierluigi; Neri, Elena; Krauss, Baruch S.

    2017-01-01

    Fever in children is a common concern for parents and one of the most frequent presenting complaints in emergency department visits, often involving non-pediatric emergency physicians. Although the incidence of serious infections has decreased after the introduction of conjugate vaccines, fever remains a major cause of laboratory investigation and hospital admissions. Furthermore, antipyretics are the most common medications administered to children. We review the epidemiology and measurement of fever, the meaning of fever and associated clinical signs in children of different ages and under special conditions, including fever in children with cognitive impairment, recurrent fevers, and fever of unknown origin. While the majority of febrile children have mild, self-resolving viral illness, a minority may be at risk of life-threatening infections. Clinical assessment differs markedly from adult patients. Hands-off evaluation is paramount for a correct evaluation of breathing, circulation and level of interaction. Laboratory markers and clinical prediction rules provide limited help in identifying children at risk for serious infections; however, clinical examination, prudent utilization of laboratory tests, and post-discharge guidance (“safety netting”) remain the cornerstone of safe management of febrile children. PMID:28862659

  13. Fever in Children: Pearls and Pitfalls

    Directory of Open Access Journals (Sweden)

    Egidio Barbi

    2017-09-01

    Full Text Available Fever in children is a common concern for parents and one of the most frequent presenting complaints in emergency department visits, often involving non-pediatric emergency physicians. Although the incidence of serious infections has decreased after the introduction of conjugate vaccines, fever remains a major cause of laboratory investigation and hospital admissions. Furthermore, antipyretics are the most common medications administered to children. We review the epidemiology and measurement of fever, the meaning of fever and associated clinical signs in children of different ages and under special conditions, including fever in children with cognitive impairment, recurrent fevers, and fever of unknown origin. While the majority of febrile children have mild, self-resolving viral illness, a minority may be at risk of life-threatening infections. Clinical assessment differs markedly from adult patients. Hands-off evaluation is paramount for a correct evaluation of breathing, circulation and level of interaction. Laboratory markers and clinical prediction rules provide limited help in identifying children at risk for serious infections; however, clinical examination, prudent utilization of laboratory tests, and post-discharge guidance (“safety netting” remain the cornerstone of safe management of febrile children.

  14. Diagnostic criteria of acute rheumatic fever.

    Science.gov (United States)

    Burke, Rebecca J; Chang, Christopher

    2014-01-01

    Acute rheumatic fever is an inflammatory sequela of Group A Streptococcal pharyngitis that affects multiple organ systems. The incidence of acute rheumatic fever has been declining even before the use of antibiotics became widespread, however the disease remains a significant cause of morbidity and mortality in children, particularly in developing countries and has been estimated to affect 19 per 100,000 children worldwide. Acute rheumatic fever is a clinical diagnosis, and therefore subject to the judgment of the clinician. Because of the variable presentation, the Jones criteria were first developed in 1944 to aid clinicians in the diagnosis of acute rheumatic fever. The Jones criteria have been modified throughout the years, most recently in 1992 to aid clinicians in the diagnosis of initial attacks of acute rheumatic fever and to minimize overdiagnosis of the disease. Diagnosis of acute rheumatic fever is based on the presence of documented preceding Group A Streptococcal infection, in addition to the presence of two major manifestations or one major and two minor manifestations of the Jones criteria. Without documentation of antecedent Group A Streptococcal infection, the diagnosis is much less likely except in a few rare scenarios. Carditis, polyarthritis and Sydenham's chorea are the most common major manifestations of acute rheumatic fever. However, despite the predominance of these major manifestations of acute rheumatic fever, there can be significant overlap with other disorders such as Lyme disease, serum sickness, drug reactions, and post-Streptococcal reactive arthritis. This overlap between disease processes has led to continued investigation of the pathophysiology as well as development of new biomarkers and laboratory studies to aid in the diagnosis of acute rheumatic fever and distinction from other disease processes.

  15. Self-Esteem, Locus of Control, and Student Achievement.

    Science.gov (United States)

    Sterbin, Allan; Rakow, Ernest

    The direct effects of locus of control and self-esteem on standardized test scores were studied. The relationships among the standardized test scores and measures of locus of control and self-esteem for 12,260 students from the National Education Longitudinal Study 1994 database were examined, using the same definition of locus of control and…

  16. Fluoroquinolones for treating typhoid and paratyphoid fever (enteric fever).

    Science.gov (United States)

    Effa, Emmanuel E; Lassi, Zohra S; Critchley, Julia A; Garner, Paul; Sinclair, David; Olliaro, Piero L; Bhutta, Zulfiqar A

    2011-10-05

    Typhoid and paratyphoid are febrile illnesses, due to a bacterial infection, which remain common in many low- and middle-income countries. The World Health Organization (WHO) currently recommends the fluoroquinolone antibiotics in areas with known resistance to the older first-line antibiotics. To evaluate fluoroquinolone antibiotics for treating children and adults with enteric fever. We searched The Cochrane Infectious Disease Group Specialized Register (February 2011); Cochrane Central Register of Controlled Trials (CENTRAL), published in The Cochrane Library (2011, Issue 2); MEDLINE (1966 to February 2011); EMBASE (1974 to February 2011); and LILACS (1982 to February 2011). We also searched the metaRegister of Controlled Trials (mRCT) in February 2011. Randomized controlled trials examining fluoroquinolone antibiotics, in people with blood, stool or bone marrow culture-confirmed enteric fever. Two authors independently assessed the trial's methodological quality and extracted data. We calculated risk ratios (RR) for dichotomous data and mean difference for continuous data with 95% confidence intervals (CI).Comparative effectiveness has been interpreted in the context of; length of treatment, dose, year of study, known levels of antibiotic resistance, or proxy measures of resistance such as the failure rate in the comparator arm. Twenty-six studies, involving 3033 patients, are included in this review.Fluoroquinolones versus older antibiotics (chloramphenicol, co-trimoxazole, amoxicillin and ampicillin)In one study from Pakistan in 2003-04, high clinical failure rates were seen with both chloramphenicol and co-trimoxazole, although resistance was not confirmed microbiologically. A seven-day course of either ciprofloxacin or ofloxacin were found to be superior. Older studies of these comparisons failed to show a difference (six trials, 361 participants).In small studies conducted almost two decades ago, the fluoroquinolones were demonstrated to have fewer

  17. Clinical and molecular aspects of malaria fever.

    Science.gov (United States)

    Oakley, Miranda S; Gerald, Noel; McCutchan, Thomas F; Aravind, L; Kumar, Sanjai

    2011-10-01

    Although clinically benign, malaria fever is thought to have significant relevance in terms of parasite growth and survival and its virulence which in turn may alter the clinical course of illness. In this article, the historical literature is reviewed, providing some evolutionary perspective on the genesis and biological relevance of malaria fever, and the available molecular data on the febrile-temperature-inducible parasite factors that may contribute towards the regulation of parasite density and alteration of virulence in the host is also discussed. The potential molecular mechanisms that could be responsible for the induction and regulation of cyclical malaria fevers caused by different species of Plasmodium are also discussed.

  18. Anterior ischemic optic neuropathy following dengue fever.

    Science.gov (United States)

    Ramakrishnan, Reshma; Shrivastava, Saurabh; Deshpande, Shrikant; Patkar, Priyanka

    2016-01-01

    Dengue fever is caused by a flavivirus. This infection is endemic in the tropics and warm temperate regions of the world. Ocular manifestations of dengue fever include subconjunctival, vitreous, and retinal haemorrhages; posterior uveitis; optic neuritis; and maculopathies, haemorrhage, and oedema. However anterior ischemic optic neuropathy is a rare presentation. Optic nerve ischemia most frequently occurs at the optic nerve head, where structural crowding of nerve fibers and reduction of the vascular supply may combine to impair perfusion to a critical degree and produce optic disc oedema. Here we present a case of anterior ischemic optic neurapathy associated with dengue fever.

  19. Lassa fever: another threat from West Africa.

    Science.gov (United States)

    Brosh-Nissimov, Tal

    2016-01-01

    Lassa fever, a zoonotic viral infection, is endemic in West Africa. The disease causes annual wide spread morbidity and mortality in Africa, and can be imported by travelers. Possible importation of Lassa fever and the potential for the use of Lassa virus as an agent of bioterrorism mandate clinicians in Israel and other countries to be vigilant and familiar with the basic characteristics of this disease. The article reviews the basis of this infection and the clinical management of patients with Lassa fever. Special emphasis is given to antiviral treatment and infection control.

  20. Clara Maass, yellow fever and human experimentation.

    Science.gov (United States)

    Chaves-Carballo, Enrique

    2013-05-01

    Clara Louise Maass, a 25-year-old American nurse, died of yellow fever on August 24, 1901, following experimental inoculation by infected mosquitoes in Havana, Cuba. The human yellow fever experiments were initially conducted by MAJ Walter Reed, who first used written informed consent and proved the validity of Finlay's mosquito-vector hypothesis. Despite informed consent form and an incentive of $100 in U.S. gold, human subjects were exposed to a deadly virus. The deaths of Clara Maass and two Spanish immigrants resulted in a public outcry and the immediate cessation of yellow fever human experiments in Cuba.

  1. Appendicular perforation in dengue fever: our experience

    Directory of Open Access Journals (Sweden)

    Gunjan Desai

    2014-09-01

    Full Text Available Dengue viral infections have become one of major emerging infectious diseases in the tropics. Acute abdomen occurring in dengue viral infection is not uncommon. The spectrums of acute surgical emergencies which raise suspicion of an abdominal catastrophe in patients presenting with dengue fever include acute pancreatitis, acute acalculous cholecystitis, non-specific peritonitis and very rarely acute appendicitis. The presence of low white cell count and platelet count can raise suspicion of a diagnosis of dengue in a patient presenting with acute abdominal pain, during a dengue epidemic. We herein report three patients with dengue fever who had appendicular perforation during the course of their viral fever.

  2. Intrapartum fever and the risk for perinatal complications - the effect of fever duration and positive cultures.

    Science.gov (United States)

    Ashwal, Eran; Salman, Lina; Tzur, Yossi; Aviram, Amir; Ben-Mayor Bashi, Tali; Yogev, Yariv; Hiersch, Liran

    2017-04-24

    To estimate the association between intrapartum fever and adverse perinatal outcome. A retrospective cohort study of women attempting vaginal delivery at term in a tertiary hospital (2012-2015). Perinatal outcome of deliveries complicated by intrapartum fever (≥38.0 °C) were compared to women with no intrapartum fever matched by parity and gestational age at delivery in a 1:2 ratio. Maternal outcome included cesarean section (CS), operative vaginal delivery (OVD), retained placenta or post-partum hemorrhage. Neonatal outcome included 5-minute Apgar score fever and 618 served as controls. Women with intrapartum fever had higher rates of OVD (34.3 versus 19.6%, p fever was independently associated with adverse maternal (3.75, 95%CI 2.65-5.30, p fever duration was related to maternal complications, specifically to CS. In addition, maternal bacteremia and positive placental cultures were risk factors for neonatal complications compared to those with negative cultures (23.3 versus 9.8%, p = .01). Intrapartum fever was associated with adverse perinatal complications. The duration of intrapartum fever, maternal bacteremia, and positive cultures further increase this risk.

  3. Typhoid fever and paratyphoid fever: Systematic review to estimate global morbidity and mortality for 2010

    Directory of Open Access Journals (Sweden)

    Geoffrey C. Buckle

    2012-06-01

    Full Text Available Typhoid and paratyphoid fever remain important causes of morbidity worldwide. Accurate disease burden estimates are needed to guide policy decisions and prevention and control strategies.

  4. The global burden of typhoid fever

    National Research Council Canada - National Science Library

    Crump, John A; Luby, Stephen P; Mintz, Eric D

    2004-01-01

    To use new data to make a revised estimate of the global burden of typhoid fever, an accurate understanding of which is necessary to guide public health decisions for disease control and prevention efforts...

  5. Transfusion support in patients with dengue fever.

    Science.gov (United States)

    Kaur, Paramjit; Kaur, Gagandeep

    2014-09-01

    Dengue fever has emerged as a global public health problem in the recent decades. The clinical spectrum of the disease ranges from dengue fever to dengue hemorrhagic fever and dengue shock syndrome. The disease is characterized by increased capillary permeability, thrombocytopenia and coagulopathy. Thrombocytopenia with hemorrhagic manifestations warrants platelet transfusions. There is lack of evidence-based guidelines for transfusion support in patients with dengue fever. This contributes to inappropriate use of blood components and blood centers constantly face the challenge of inventory management during dengue outbreaks. The current review is aimed to highlight the role of platelets and other blood components in the management of dengue. The review was performed after searching relevant published literature in PubMed, Science Direct, Google scholar and various text books and journal articles.

  6. A Physician's Nightmare: Fever of Unknown Origin.

    Science.gov (United States)

    Din, Sana; Anwer, Farrukh; Beg, Mirza

    2016-01-01

    Fever of unknown origin (FUO) remains to be a challenge despite advancement in diagnostic technologies and procedures. FUO is considered when fever presents intermittently without an explanation. It has been linked to various etiologies, which makes it difficult to diagnose. We present the case of 18-month-old female with recurrent fever, splenomegaly, abdominal pain, and constipation. The workup for her symptoms revealed wandering spleen. Wandering spleen is a result from excessive laxity or absence of splenic ligaments. The patient underwent splenectomy and was advised to continue on Senna, Miralax, and high fiber diet. Her mother reported that the fever is no longer present and there is marked improvement in her constipation and abdominal pain after splenectomy.

  7. Travelers' Health: Typhoid and Paratyphoid Fever

    Science.gov (United States)

    ... or convalescent person or a chronic, asymptomatic carrier. Transmission through sexual contact, especially among men who have sex with ... fever even during visits of countries where the disease is highly endemic (such as India, Pakistan, or ...

  8. Mothers' Perception of Fever Management in Children

    African Journals Online (AJOL)

    Alasia Datonye

    Department of Paediatrics, University of Port Harcourt Teaching Hospital, Port Harcourt,. Nigeria. ... commonest reasons parents bring their children for medical attention. ... 2,4,12-13 skills regarding fever and its management. These fears. 2.

  9. Subacute fulminant hepatic failure with intermittent fever

    Institute of Scientific and Technical Information of China (English)

    Cong-Xin Chen; Bo Liu; Yong Hu; Joyce E. Johnson; Yi-Wei Tang

    2009-01-01

    BACKGROUND:Viral hepatitis B accounts for over 80%of acute hepatic failures in China and the patients die mainly of its complications. A patient with hepatic failure and fever is not uncommon, whereas repeated fever is rare. METHODS:A 32-year-old female was diagnosed with subacute hepatic failure and hepatitis B viral infection because of hyperbilirubinemia, coagulopathy, hepatic encephalopathy, serum anti-HBs-positive without hepatitis B vaccination, and typical intrahepatic pathological features of chronic hepatitis B. Plasma exchange was administered twice and she awoke with hyperbilirubinemia and discontinuous fever. RESULTS:Urethritis was conifrmed and medication-induced fever and/or spontaneous bacterial peritonitis (Gram-negative bacillus infection) was suspected. The patient was treated with antibiotics, steroids and a Chinese herbal medicine, matrine, for three months and she recovered. CONCLUSION:The survival rate of patients with hepatic failure might be improved with comprehensive supporting measures and appropriate, timely management of com-plications.

  10. Typhoid Fever: The Challenges of Medical Management

    African Journals Online (AJOL)

    bowel. Typhoid fever still remains a major public health problem in ... Health Education. Knowledge is limited about many infectious diseases ... equate doses of antibiotics. Another maj or ... Resistance to chloramphenicol developed two years.

  11. Viral haemorrhagic fevers in South Africa

    African Journals Online (AJOL)

    particle for some), the haemorrhagic fever (HF)-causing viruses have to be handled .... The filoviruses. The filoviruses, EVD and MVD viruses, are known to cause highly .... attributed to a previously unknown arenavirus, dubbed the Lujo virus.

  12. FastStats: Allergies/Hay Fever

    Science.gov (United States)

    ... Liver Disease and Cirrhosis Kidney Disease Oral and Dental Health Respiratory and Allergies Allergies and Hay Fever Asthma ... Day Services Centers Home Health Care Hospice Care Nursing Home Care Residential Care Communities Screenings Mammography Pap ...

  13. When the child has a fever.

    Science.gov (United States)

    2008-03-01

    Fever in a child is usually due to a self-limiting viral infection, with recovery occurring quickly without intervention. However, fever may also be the presenting feature of severe illnesses such as meningitis, septicaemia, urinary tract infections and pneumonia, and trying to exclude such causes is a key part of management. In a review 17 years ago, we concluded that there was no evidence that reducing fever improved the outcome of childhood infections, but that it probably alleviated distress and discomfort caused by fever. We also advised that parents should give paracetamol only if the child seemed uncomfortable or had previously had a febrile convulsion, and said that tepid sponging may further comfort the child, while recognising evidence that it added little to the effect of paracetamol alone. Does this advice still hold?

  14. Spontaneous splenic rupture in typhoid fever.

    OpenAIRE

    Ali, G; Kamili, M. A.; Rashid, S; Mansoor, A; Lone, B. A.; Allaqaband, G. Q.

    1994-01-01

    Three cases of multidrug-resistant Salmonella typhi infection presenting as spontaneous splenic rupture are presented. One patient died and two recovered completely. This is a previously unreported presentation of typhoid fever.

  15. A case of ADEM following Chikungunya fever.

    Science.gov (United States)

    Maity, Pranab; Roy, Pinaki; Basu, Arindam; Das, Biman; Ghosh, U S

    2014-05-01

    Chikungunya most often is a self-limiting febrile illness with polyarthritis and the virus is not known to be neurotropic. We are reporting a case of chikugunya fever presenting as acute demyelinating encephalomyelitis(ADEM) which is very rare.

  16. Tick-borne relapsing fever in children.

    Science.gov (United States)

    Le, C T

    1980-12-01

    Three cases of tick-borne fever diagnosed during the summer of 1979 are reported and the ecoepidemiology, clinical manifestations, and treatment of this infection are reviewed. Although challenging, the diagnosis can be made easily if specific historical clues are sought and the patient's blood smear is carefully examined. The diagnosis of this condition early in its course can save clinicians and patients the anxiety and cost of the work-up of a "fever of unknown origin." Since vacationing in the national parks and forests has become increasingly popular among many American families, tick-borne relapsing fever should be considered in any patient with an acute or recurrent fever of unknown origin who exhibits nonspecific symptoms of an undifferentiated "viral illness," and who gives a history of sleeping overnight in log cabins in the coniferous forests of the Western mountains of the United States.

  17. Ebola haemorrhagic fever among hospitalised children and ...

    African Journals Online (AJOL)

    Ebola haemorrhagic fever among hospitalised children and adolescents in nothern Uganda ... African Health Sciences ... Conclusion : Similar to previous Ebola outbreaks, a relative sparing of children in this outbreak was observed. The under ...

  18. Lassa fever presenting as acute abdomen: a case series

    OpenAIRE

    Dongo, Andrew E.; Kesieme, Emeka B.; Iyamu, Christopher E; Okokhere, Peter O.; Akhuemokhan, Odigie C.; Akpede, George O.

    2013-01-01

    Lassa fever, an endemic zoonotic viral infection in West Africa, presents with varied symptoms including fever, vomiting, retrosternal pain, abdominal pain, sore-throat, mucosal bleeding, seizures and coma. When fever and abdominal pain are the main presenting symptoms, and a diagnosis of acute abdomen is entertained, Lassa fever is rarely considered in the differential diagnosis, even in endemic areas. Rather the diagnosis of Lassa fever is suspected only after surgical intervention. Therefo...

  19. Vaccines for preventing typhoid fever (Review)

    OpenAIRE

    Anwar, Elspeth; Goldberg, Elad; Fraser, Abigail; Acosta, Camilo J.; Paul, Mical; Leibovici, Leonard

    2014-01-01

    Background\\ud Typhoid fever and paratyphoid fever continue to be important causes of illness and death, particularly among children and adolescents in south-central and southeast Asia. Two typhoid vaccines are commercially available, Ty21a (oral) and Vi polysaccharide (parenteral), but neither is used routinely. Other vaccines, such as a new, modified, conjugated Vi vaccine called Vi-rEPA, are in development.\\ud \\ud Objectives\\ud To evaluate the efficacy and adverse effects of vaccines used t...

  20. Isolated fever induced by mesalamine treatment

    OpenAIRE

    Slim, Rita; Amara, Joseph; Nasnas, Roy; Honein, Khalil; Jaoude, Joseph Bou; Yaghi, Cesar; Daniel, Fady; Sayegh, Raymond

    2013-01-01

    Adverse reactions to mesalamine, a treatment used to induce and maintain remission in inflammatory bowel diseases, particularly ulcerative colitis, have been described in the literature as case reports. This case illustrates an unusual adverse reaction. Our patient developed an isolated fever of unexplained etiology, which was found to be related to mesalamine treatment. A 22-year-old patient diagnosed with ulcerative colitis developed a fever with rigors and anorexia 10 d after starting oral...

  1. Malignant causes of fever of unknown origin.

    Science.gov (United States)

    Foggo, Vanessa; Cavenagh, Jamie

    2015-06-01

    The presence of fever in malignancy usually indicates infection, though transfusion, thrombosis and drugs are also culprits. However, particularly in some tumour types, fever can also be a paraneoplastic syndrome, caused by the malignancy itself. This can be a difficult diagnosis to establish and presents a therapeutic challenge to the physician when the underlying malignancy is not easily treated. © Royal College of Physicians 2015. All rights reserved.

  2. Fever of unknown origin caused by tuberculosis.

    Science.gov (United States)

    Bofinger, Jason J; Schlossberg, David

    2007-12-01

    Tuberculosis is an important cause of fever of unknown origin. Travel, age, dialysis, diabetes, birth in a country with a high prevalence of tuberculosis, and immunoincompetence are among the most salient risks. Associated physical findings, radiologic evaluation, and hematologic and endocrinologic abnormalities may provide clues to the diagnosis. Both noninvasive and invasive diagnostic modalities are reviewed. Because diagnosis may be elusive, therapeutic and diagnostic trials of antituberculous therapy should be considered in all patients with fever of unknown origin who defy diagnosis.

  3. Acute atrial fibrillation during dengue hemorrhagic fever

    Directory of Open Access Journals (Sweden)

    Veloso Henrique Horta

    2003-01-01

    Full Text Available Dengue fever is a viral infection transmitted by the mosquito, Aedes aegypti. Cardiac rhythm disorders, such as atrioventricular blocks and ventricular ectopic beats, appear during infection and are attributed to viral myocarditis. However, supraventricular arrhythmias have not been reported. We present a case of acute atrial fibrillation, with a rapid ventricular rate, successfully treated with intravenous amiodarone, in a 62-year-old man with dengue hemorrhagic fever, who had no structural heart disease.

  4. Evaluation of Children with Recurrent Fever

    Directory of Open Access Journals (Sweden)

    Soner Sertan Kara

    2016-09-01

    Full Text Available Aim: Data on recurrent fever in children is limited. The aim of this study is to evaluate the children with this common symptom. Material and Method: We enrolled 138 patients with frequent fever. Twelve febrile episodes/year was determined as the cut-off for %u201Crecurrent fever%u201D. Children with %u226412 and >12 febrile episodes/year were included in Group I and Group II, respectively. Their demographic data, symptoms, and clinical and laboratory findings were compared. All children were followed for two years for definitive diagnosis.Results: Fifty-four (39.1% children experienced recurrent fever according to our criteria. Group I children experienced more frequent sneezing, whereas Group II children experienced more frequent vomiting compared to the other group (p=0.05 and p=0.02, respectively. Febrile episodes were seen more frequently in the winter season in Group I compared to Group II (p=0.03. Age, sex, other clinical symptoms, physical examination findings, and attendance at day care center/school in two groups were not different. Group II children had higher C-reactive protein levels (p=0.001. There was no difference in other laboratory parameters between the two groups. After two years, two patients in Group II were diagnosed with Familial Mediterranean Fever syndrome and immunoglobulin-G2 subgroup deficiency, while one patient in Group I was diagnosed with periodic fever, aphtous stomatitis, pharyngitis, and adenitis syndrome. Discussion: To investigate only those children presenting with fever episodes of at least once a month may not be discriminative. To construct an algorithm for diagnosis and treatment, it would be better to follow recurrent fever patients for a longer duration rather than initially categorizing them according to the number of episodes.

  5. Ebola and Marburg haemorrhagic fever.

    Science.gov (United States)

    Rougeron, V; Feldmann, H; Grard, G; Becker, S; Leroy, E M

    2015-03-01

    Ebolaviruses and Marburgviruses (family Filoviridae) are among the most virulent pathogens for humans and great apes causing severe haemorrhagic fever and death within a matter of days. This group of viruses is characterized by a linear, non-segmented, single-stranded RNA genome of negative polarity. The overall burden of filovirus infections is minimal and negligible compared to the devastation caused by malnutrition and other infectious diseases prevalent in Africa such as malaria, dengue or tuberculosis. In this paper, we review the knowledge gained on the eco/epidemiology, the pathogenesis and the disease control measures for Marburg and Ebola viruses developed over the last 15 years. The overall progress is promising given the little attention that these pathogen have achieved in the past; however, more is to come over the next decade given the more recent interest in these pathogens as potential public and animal health concerns. Licensing of therapeutic and prophylactic options may be achievable over the next 5-10 years.

  6. Fever and abdominal tumoral masses

    Directory of Open Access Journals (Sweden)

    Augustin C. Dima

    2016-04-01

    Full Text Available 49 year-old man presented to our clinic for pain in the right hypochondrium, diarrhea, and fever. The clinical examination highlights a tumoral formation in the right side of the abdomen, with firm consistency, poorly defined margins, and present mobility in the deep structures. On biological exams, leukocytosis with neutrophilia, inflammatory syndrome, and hypoalbuminaemia were identified. The first computed tomography exam described parietal thickening of the ascending colon, with infiltrative aspect, and multiple local adenopathies, lomboaortic and interaortocave. Moreover, four nodular liver tumors, with hypodense image in native examination, were identified. The lab tests for infectious diseases were all inconclusives: three hemocultures, three stool samples, and three coproparasitological exams were all negatives. Interdisciplinary examinations, internal medicine and infectious diseases, sustained the diagnosis of colonic neoplasm with peritumoral abscess and liver pseudo-tumoral masses. The colonoscopy did not revealed any bowel lesions relevant for neoplasia. This result as well as the bio-clinical context imposed abstention from surgical intervention. Wide spectrum antibiotics and symptomatic treatment were initiated. But, ten days after hospitalization, the second computed tomography exam showed reduction of the ascending colon wall thickness associated with significant increases of the liver tumors is so revealed. The investigations for other possible etiologies were so continued.

  7. Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein

    Science.gov (United States)

    Ryan, JG; Masters, SL; Booty, MG; Habal, N; Alexander, JD; Barham, BK; Remmers, EF; Barron, KS; Kastner, DL; Aksentijevich, I

    2013-01-01

    Objectives Familial Mediterranean fever (FMF) is caused by mutations in MEFV, which encodes pyrin. The nature of substitutions P369S and R408Q in exon 3 remains unclear. Exon 3 encoding pyrin’s B-box domain is necessary for interactions with PSTPIP1. We aimed to characterize the phenotype of patients with these substitutions and to determine their functional significance. Methods A database of genetic tests undertaken in our institution was interrogated. Symptoms and signs were classified according to Tel-Hashomer criteria. Co-immunoprecipation techniques were employed to determine the variants’ effects on pyrin/PSTPIP1 interactions. Results We identified 40 symptomatic and 4 asymptomatic family members with these substitutions. P369S and R408Q were found in cis, and co-segregated in all patients sequenced. Clinical details were available on 22 patients. Five patients had symptoms and signs fulfilling a clinical diagnosis of FMF. Fourteen received colchicine. In patients not reaching the criteria, trials of anti-TNF agents resulted in partial or no benefit; resolution of symptoms was noted in those receiving anakinra. The carrier frequency was higher in the patient cohort than in controls but was not statistically significant. Co-immunoprecipitation studies demonstrated that these pyrin variants did not affect binding to PSTPIP1. Conclusions P369S/R408Q substitutions are associated with a highly variable phenotype, and are infrequently associated with typical FMF symptoms, however a trial of colchicine is warranted in all. Functional and modeling studies suggest that these substitutions do not significantly affect pyrin’s interaction with PSTPIP1. This study highlights the need for caution in interpreting genetic tests in patients with atypical symptoms. PMID:19934105

  8. African swine fever virus serotype-specific proteins are significant protective antigens for African swine fever

    Science.gov (United States)

    African swine fever (ASF) is an emerging disease threat for the swine industry worldwide. No ASF vaccine is available and progress is hindered by lack of knowledge concerning the extent of African swine fever virus (ASFV) strain diversity and the viral antigens conferring type specific protective im...

  9. [Surveillance data on typhoid fever and paratyphoid fever in 2015, China].

    Science.gov (United States)

    Liu, F F; Zhao, S L; Chen, Q; Chang, Z R; Zhang, J; Zheng, Y M; Luo, L; Ran, L; Liao, Q H

    2017-06-10

    Objective: Through analyzing the surveillance data on typhoid fever and paratyphoid fever in 2015 to understand the related epidemiological features and most possible clustering areas of high incidence. Methods: Individual data was collected from the passive surveillance program and analyzed by descriptive statistic method. Characteristics on seasonal, regional and distribution of the diseases were described. Spatial-temporal clustering characteristics were estimated, under the retrospective space-time method. Results: A total of 8 850 typhoid fever cases were reported from the surveillance system, with incidence rate as 0.65/100 000. The number of paratyphoid fever cases was 2 794, with incidence rate as 0.21/100 000. Both cases of typhoid fever and paratyphoid fever occurred all year round, with high epidemic season from May to October. Most cases involved farmers (39.68%), children (15.89%) and students (12.01%). Children under 5 years showed the highest incidence rate. Retrospective space-time analysis for provinces with high incidence rates would include Yunnan, Guangxi, Guizhou, Hunan and Guangdong, indicating the first and second class clusters were mainly distributed near the bordering adjacent districts and counties among the provinces. Conclusion: In 2015, the prevalence rates of typhoid fever and paratyphoid fever were low, however with regional high prevalence areas. Cross regional transmission existed among provinces with high incidence rates which might be responsible for the clusters to appear in these areas.

  10. Tick bite fever and Q fever — a South African perspective

    African Journals Online (AJOL)

    lnirnctii, the cause of Q fever, is also widespread in the region, it is far less often identified as a cause of human disease. These two conditions are the focus of this brief review. ... Molecular taxonomic methods based on ribosomal and other ..... unknown origin. .... with clinical and serological evidence of African tick-bite fever.

  11. Chronic Q fever in the Netherlands 5 years after the start of the Q fever epidemic: results from the Dutch chronic Q fever database

    NARCIS (Netherlands)

    Kampschreur, L.M.; Delsing, C.E.; Groenwold, R.H.; Wegdam-Blans, M.C.; Bleeker-Rovers, C.P.; Jager-Leclercq, M.G. De; Hoepelman, A.I.; Kasteren, M.E.E. van; Buijs, J.; Renders, N.H.; Nabuurs-Franssen, M.H.; Oosterheert, J.J.; Wever, P.C.

    2014-01-01

    Coxiella burnetii causes Q fever, a zoonosis, which has acute and chronic manifestations. From 2007 to 2010, the Netherlands experienced a large Q fever outbreak, which has offered a unique opportunity to analyze chronic Q fever cases. In an observational cohort study, baseline characteristics and

  12. Yellow fever vaccination in the Americas.

    Science.gov (United States)

    1984-01-01

    Outbreaks of yellow fever in recent years in the Americas have prompted concern about the possible urbanization of jungle fever. Vaccination, using the 17D strain of yellow fever virus, provides an effective, practical method of large scale protection against the disease. Because yellow fever can reappear in certain areas after a 2-year dormancy period, some countries maintain routine vaccination programs in areas where jungle yellow fever is endemic. The size of the endemic area (approximately half of South America), transportation and communication difficulties, and the inability to ensure a reliable cold chain are problems facing these programs. In addition, the problem of reaching dispersed and isolated populations has been addressed by the use of mobile teams, radio monitoring, and educational methods. During yellow fever outbreaks, many countries institute massive vaccination campaigns, targeted at temporary workers and migrants. Because epidemics in South America may involve extensive areas, these campaigns may not effectively address the problem. The ped-o-jet injector method, used in Brazil and Colombia, should be used in outbreak situations, as it is effective for large-scale vaccination. Vaccine by needle, suggested for maintenance programs, should be administered to those above 1 year of age. An efficient monitoring method to avoid revaccination, and to assess immunity, should be developed. The 17D strain produces seroconversion in 95% of recipients, and most is prepared in Brazil and Colombia. But, problems with storage methods, instability in seed lots, and difficulties in large-scale production were identified in 1981 by the Pan American Health Organization and WHO. The group recommended modernization of current production techniques and further research to develop a vaccine that could be produced in cell cultures. Brazil and Colombia have acted on these recommendations, modernizing vaccine production and researching thermostabilizing media for

  13. Regulatory organization of the staphylococcal sae locus.

    Science.gov (United States)

    Adhikari, Rajan P; Novick, Richard P

    2008-03-01

    This paper describes an investigation of the complex internal regulatory circuitry of the staphylococcal sae locus and the impact of modifying this circuitry on the expression of external genes in the sae regulon. The sae locus contains four genes, the saeR and S two-component signalling module (TCS), and saeP and Q, two upstream genes of hitherto unknown function. It is expressed from two promoters, P(A)sae, which transcribes only the TCS, and P(C)sae, which transcribes the entire locus. A bursa aurealis (bursa) transposon insertion in saeP in a derivative of Staphylococcus aureus NCTC 8325 has a profound effect on sae function. It modifies the activity of the TCS, changing the expression of many genes in the sae regulon, even though transcription of the TCS (from P(A)sae) is not interrupted. Moreover, these effects are not due to disruption of saeP since an in-frame deletion in saeP has essentially no phenotype. The phenotype of S. aureus strain Newman is remarkably similar to that of the saeP : : bursa and this similarity is explained by an amino acid substitution in the Newman saeS gene that is predicted to modify profoundly the signalling function of the protein. This concurrence suggests that the saeP : : bursa insertion affects the signalling function of saeS, a suggestion that is supported by the ability of an saeQR clone, but not an saeR clone, to complement the effects of the saeP : : bursa insertion.

  14. Locus of control and online learning

    Directory of Open Access Journals (Sweden)

    Suretha Esterhuysen

    2004-10-01

    Full Text Available The integration of online learning in university courses is considered to be both inevitable and necessary. Thus there is an increasing need to raise awareness among educators and course designers about the critical issues impacting on online learning. The aim of this study, therefore, was to assess the differences between two groups of first-year Business Sciences learners (online and conventional learners in terms of biographic and demographic characteristics and locus of control. The study population consisted of 586 first-year learners of whom 185 completed the Locus of Control Inventory (LCI. The results show that the two groups of learners do not differ statistically significantly from each other with respect to locus of control. The findings and their implications are also discussed. Opsomming Die integrasie van aanlyn-leer in universiteitskursusse word beskou as sowel onafwendbaar as noodsaaklik. Daar is dus ’n toenemende behoefte om bewustheid onder opvoedkundiges en kursusontwerpers te kweek oor die kritiese aspekte wat ’n impak op aanlyn-leer het (Morgan, 1996. Daarom was die doel van hierdie ondersoek om die verskille tussen twee groepe eerstejaarleerders in Bestuurs- en Ekonomiese Wetenskap (aanlyn en konvensionele leerders te bepaal ten opsigte van biografiese en demografiese eienskappe en lokus van beheer. Die populasie het bestaan uit 586 eerstejaarleerders waarvan 185 die Lokus van Beheer Vraelys voltooi het. Die resultate toon dat die twee groepe leerders nie statisties beduidend van mekaar verskil het met betrekking tot lokus van beheer nie. Die bevindinge en implikasies word ook bespreek.

  15. Cut Locus Construction using Deformable Simplicial Complexes

    DEFF Research Database (Denmark)

    Misztal, Marek Krzysztof; Bærentzen, Jakob Andreas; Anton, François

    2011-01-01

    In this paper we present a method for appproximating cut loci for a given point p on Riemannian 2D manifolds, closely related to the notion of Voronoi diagrams. Our method finds the cut locus by advecting a front of points equally distant from p along the geodesics originating at p and finding...... the lines of self-intersections of the front in the parametric space. This becomes possible by using the deformable simplicial complexes (DSC, [1]) method for deformable interface tracking. DSC provide a simple collision detection mechanism, allows for interface topology control, and does not require...

  16. Hepatic involvement in dengue Fever in children.

    Science.gov (United States)

    Jagadishkumar, Kalenahalli; Jain, Puja; Manjunath, Vaddambal G; Umesh, Lingappa

    2012-06-01

    Hepatic dysfunction is common in dengue infection and the degree of liver dysfunction in children varies from mild injury with elevation of transaminases to severe injury with jaundice. This study was undertaken to assess the spectrum of hepatic involvement in dengue infection. 110 children with serologically positive dengue fever aged between 2 months - 14 years were studied for their hepatic functions both clinically and biochemically after excluding malaria, enteric fever, Hepatitis A and Hepatitis B with relevant investigations. All cases were grouped into DF (Dengue fever), DHF (Dengue hemorrhagic fever) and DSS (Dengue shock syndrome) according to WHO criteria. The spectrum of hepatic manifestations included hepatomegaly (79%), hepatic tenderness (56%), jaundice (4.5%), raised levels of aspartate transaminase (AST)(93%), alanine transaminase (ALT)(78%), alkaline phosphatase (AP) (57%), prolonged prothrombin time (PT) (20%), reduced levels of serum albumin (66%) and abnormal abdomen ultrasound (65%). Hepatic dysfunction was observed more in DHF and DSS group compared to DF group. About 17.27% of children had >10 fold increase in the liver enzymes. There was no correlation between the degree of hepatic enlargement or hepatic tenderness with the abnormalities of liver functions. Any child with fever, jaundice and tender hepatomegaly in geographical areas where dengue is endemic, the diagnosis of dengue infection should be strongly considered.

  17. Fever after maxillofacial surgery: a critical review.

    Science.gov (United States)

    Christabel, Amelia; Sharma, Ravi; Manikandhan, R; Anantanarayanan, P; Elavazhagan, N; Subash, Pramod

    2015-06-01

    The aim of this paper is to review the pathophysiology of thermoregulation mechanism, various causes of fever after maxillofacial surgery and the different treatment protocols advised in the literature. Fever is one of the most common complaints after major surgery and is also considered to be an important clinical sign which indicates developing pathology that may go unnoticed by the clinician during post operative period. Several factors are responsible for fever after the maxillofacial surgery, inflammation and infection being the commonest. However, other rare causes such as drug allergy, dehydration, malignancy and endocrinological disorders, etc. should be ruled out prior to any definite diagnosis and initiate the treatment. Proper history and clinical examination is an essential tool to predict the causative factors for fever. Common cooling methods like tepid sponging are usually effective alone or in conjunction with analgesics to reduce the temperature. Fever is a common postoperative complaint and should not be underestimated as it may indicate a more serious underlying pathology. A specific guideline towards the management of such patients is necessary in every hospital setting to ensure optimal care towards the patients during post operative period.

  18. Fever and antipyretic use in children.

    Science.gov (United States)

    Sullivan, Janice E; Farrar, Henry C

    2011-03-01

    Fever in a child is one of the most common clinical symptoms managed by pediatricians and other health care providers and a frequent cause of parental concern. Many parents administer antipyretics even when there is minimal or no fever, because they are concerned that the child must maintain a "normal" temperature. Fever, however, is not the primary illness but is a physiologic mechanism that has beneficial effects in fighting infection. There is no evidence that fever itself worsens the course of an illness or that it causes long-term neurologic complications. Thus, the primary goal of treating the febrile child should be to improve the child's overall comfort rather than focus on the normalization of body temperature. When counseling the parents or caregivers of a febrile child, the general well-being of the child, the importance of monitoring activity, observing for signs of serious illness, encouraging appropriate fluid intake, and the safe storage of antipyretics should be emphasized. Current evidence suggests that there is no substantial difference in the safety and effectiveness of acetaminophen and ibuprofen in the care of a generally healthy child with fever. There is evidence that combining these 2 products is more effective than the use of a single agent alone; however, there are concerns that combined treatment may be more complicated and contribute to the unsafe use of these drugs. Pediatricians should also promote patient safety by advocating for simplified formulations, dosing instructions, and dosing devices.

  19. Fever of unknown origin (FUO) revised.

    Science.gov (United States)

    Unger, Manuel; Karanikas, Georgios; Kerschbaumer, Andreas; Winkler, Stefan; Aletaha, Daniel

    2016-11-01

    Fever of unknown origin (FUO) was originally characterised in 1961 by Petersdorf and Beeson as a disease condition of temperature exceeding 38.3 °C on at least three occasions over a period of at least three weeks, with no diagnosis made despite one week of inpatient investigation. However, since underlying diseases are often reported for classical FUO, these presentations may not be considered to be of "unknown origin". Rather, the aetiology of prolonged fever may resolve, or not resolve. The definition of fever with unresolved cause (true FUO) is difficult, as it is a moving target, given the constant advancement of imaging and biomarker analysis. Therefore, the prevalence of fever with unresolved cause (FUO) is unknown.In this review, we report such a case of prolonged fever, which initially has presented as classical FUO, and discuss current literature. Furthermore, we will give an outlook, how a prospective study on FUO will allow to solve outstanding issues like the utility of different diagnostic investigations, and the types and prevalence of various underlying diseases.

  20. Optimal Repellent Usage to Combat Dengue Fever.

    Science.gov (United States)

    Dorsett, Chasity; Oh, Hyunju; Paulemond, Marie Laura; Rychtář, Jan

    2016-05-01

    Dengue fever is one of the most important vector-borne diseases. It is transmitted by Aedes Stegomyia aegypti, and one of the most effective strategies to combat the disease is the reduction of exposure to bites of these mosquitoes. In this paper, we present a game-theoretical model in which individuals choose their own level of protection against mosquito bites in order to maximize their own benefits, effectively balancing the cost of protection and the risk of contracting the dengue fever. We find that even when the usage of protection is strictly voluntary, as soon as the cost of protection is about 10,000 times less than the cost of contracting dengue fever, the optimal level of protection will be within 5 % of the level needed for herd immunity.

  1. Lost trust: a yellow fever patient response.

    Science.gov (United States)

    Runge, John S

    2013-12-13

    In the 19th century, yellow fever thrived in the tropical, urban trade centers along the American Gulf Coast. Industrializing and populated, New Orleans and Memphis made excellent habitats for the yellow fever-carrying Aedes aegypti mosquitoes and the virulence they imparted on their victims. Known for its jaundice and black, blood-filled vomit, the malady terrorized the region for decades, sometimes claiming tens of thousands of lives during the near annual summertime outbreaks. In response to the failing medical community, a small, pronounced population of sick and healthy laypeople openly criticized the efforts to rid the Gulf region of yellow jack. Utilizing newspapers and cartoons to vocalize their opinions, these critics doubted and mocked the medical community, contributing to the regional and seasonal dilemma yellow fever posed for the American South. These sentient expressions prove to be an early example of patient distrust toward caregivers, a current problem in clinical heath care.

  2. Fever: suppress or let it ride?

    Science.gov (United States)

    Ray, Juliet J; Schulman, Carl I

    2015-12-01

    While our ability to detect and manage fever has evolved since its conceptualization in the 5(th) century BC, controversy remains over the best evidence-based practices regarding if and when to treat this physiologic derangement in the critically ill. There are two basic fields of thought: (I) fever should be suppressed because its metabolic costs outweigh its potential physiologic benefit in an already stressed host; vs. (II) fever is a protective adaptive response that should be allowed to run its course under most circumstances. The latter approach, sometime referred to as the "let it ride" philosophy, has been supported by several recent randomized controlled trials like that of Young et al. [2015], which are challenging earlier observational studies and may be pushing the pendulum away from the Pavlovian treatment response.

  3. Rift Valley fever: the Nigerian story

    Directory of Open Access Journals (Sweden)

    Adewale A. Adeyeye

    2011-01-01

    Full Text Available Rift Valley fever (RVF is an arthropod-borne zoonotic disease of livestock. It is characterised by fever, salivation, abdominal pain, diarrhoea, mucopurulent to bloody nasal discharge, abortion, rapid decrease in milk production and death in animals. Infected humans experience an influenza-like illness that is characterised by fever, malaise, headaches, nausea and epigastric pain followed by recovery, although mortality can occur. RVF was thought to be a disease of sub-Saharan Africa but with the outbreaks in Egypt and the Arabian Peninsula, it may be extending its range further afield. Virological and serological evidence indicates that the virus exists in Nigeria and, with the warning signal sent by international organisations to countries in Africa about an impending outbreak, co-ordinated research between veterinarians and physicians in Nigeria is advocated.

  4. A case of Rocky Mountain spotted fever.

    Science.gov (United States)

    Rubel, Barry S

    2007-01-01

    Rocky Mountain spotted fever is a serious, generalized infection that is spread to humans through the bite of infected ticks. It can be lethal but it is curable. The disease gets its name from the Rocky Mountain region where it was first identified in 1896. The fever is caused by the bacterium Rickettsia rickettsii and is maintained in nature in a complex life cycle involving ticks and mammals. Humans are considered to be accidental hosts and are not involved in the natural transmission cycle of this pathogen. The author examined a 47-year-old woman during a periodic recall appointment. The patient had no dental problems other than the need for routine prophylaxis but mentioned a recent problem with swelling of her extremities with an accompanying rash and general malaise and soreness in her neck region. Tests were conducted and a diagnosis of Rocky Mountain spotted fever was made.

  5. Hemophagocytic syndrome in classic dengue fever

    Directory of Open Access Journals (Sweden)

    Sayantan Ray

    2011-01-01

    Full Text Available A 24-year-old previously healthy girl presented with persistent fever, headache, and jaundice. Rapid-test anti-dengue virus IgM antibody was positive but anti-dengue IgG was nonreactive, which is suggestive of primary dengue infection. There was clinical deterioration during empiric antibiotic and symptomatic therapy. Bone marrow examination demonstrated the presence of hemophagocytosis. Diagnosis of dengue fever with virus-associated hemophagocytic syndrome was made according to the diagnostic criteria of the HLH 2004 protocol of the Histiocyte Society. The patient recovered with corticosteroid therapy. A review of literature revealed only a handful of case reports that showed the evidence that this syndrome is caused by dengue virus. Our patient is an interesting case of hemophagocytic syndrome associated with classic dengue fever and contributes an additional case to the existing literature on this topic. This case highlights the need for increased awareness even in infections not typically associated with hemophagocytic syndrome.

  6. Hemophagocytic syndrome in classic dengue Fever.

    Science.gov (United States)

    Ray, Sayantan; Kundu, Supratip; Saha, Manjari; Chakrabarti, Prantar

    2011-10-01

    A 24-year-old previously healthy girl presented with persistent fever, headache, and jaundice. Rapid-test anti-dengue virus IgM antibody was positive but anti-dengue IgG was nonreactive, which is suggestive of primary dengue infection. There was clinical deterioration during empiric antibiotic and symptomatic therapy. Bone marrow examination demonstrated the presence of hemophagocytosis. Diagnosis of dengue fever with virus-associated hemophagocytic syndrome was made according to the diagnostic criteria of the HLH 2004 protocol of the Histiocyte Society. The patient recovered with corticosteroid therapy. A review of literature revealed only a handful of case reports that showed the evidence that this syndrome is caused by dengue virus. Our patient is an interesting case of hemophagocytic syndrome associated with classic dengue fever and contributes an additional case to the existing literature on this topic. This case highlights the need for increased awareness even in infections not typically associated with hemophagocytic syndrome.

  7. Effect of Helicobacter pylori infection and eradication therapy on interleukin-6 levels in patients with Familial Mediterranean Fever.

    Science.gov (United States)

    Ozel, A M; Demirturk, L; Aydogdu, A; Gultepe, M; Yazgan, Y; Imirzalioglu, N; Gurbuz, A K; Narin, Y

    2008-05-01

    It is being questioned if Helicobacter pylori infection, which causes a chronic inflammatory response, can increase the frequency and severity of attacks in patients with Familial Mediterranean Fever (FMF) and if the impact of inflammatory response can be diminished by eradication of the infection. To evaluate if there is difference in interleukin (IL)-6 levels of H. pylori-positive and -negative patients both before and during FMF attacks; if there is a change in IL-6 levels following successful eradication treatment; and if MEFV gene mutations have an effect on IL-6 levels. IL-6 levels were evaluated in 47 FMF patients before and during FMF attacks. Genetic testing to determine M694V, M694I, E148Q, V726V, M680I mutations was also performed in all patients. IL-6 levels were also determined after successful eradication of the infection in H. pylori-positive patients. IL-6 levels were compared in H. pylori-positive and -negative patients, and before and after eradication treatment in patients who cleared the infection. Number of patients in tested mutation groups was not enough to compare IL-6 levels in these groups. Thirty-four patients (73.9%) were H. pylori-positive. Before FMF attack there was no statistically significant difference in IL-6 levels of H. pylori-positive and -negative groups. IL-6 levels were significantly higher in both groups during the attacks than before the attacks (p FMF attacks, following eradication therapy in patients who cleared the infection (p FMF attacks were not significantly different in H. pylori-positive and -negative groups, despite a much lower level found in H. pylori-negative group (p > 0.05). Comparisons were not performed in other mutation groups because of small number of patients in each group. C-reactive protein (CRP) and fibrinogen levels were not significantly different between the groups (p > 0.05). We believe that the observation of IL-6 levels are lower both before and during FMF attacks both in H. pylori

  8. Impact of locus of control on health message effectiveness.

    Science.gov (United States)

    Kong, Ying; Shen, Fuyuan

    2011-10-01

    This article examined how individuals' locus of control might moderate the effect of health message frames. An experiment was conducted whereby participants read either individual- or social-responsibility message frames after their locus of control was primed. Results indicated that messages presented in individual-responsibility frames were more persuasive when people were primed with internal locus of control, whereas social-responsibility framed appeals were more persuasive when people were primed with external locus of control. These results were found for individuals in both high and low cognitive load conditions. Theoretical and practical implications of the findings are discussed.

  9. Relationships between locus of control and paranormal beliefs.

    Science.gov (United States)

    Newby, Robert W; Davis, Jessica Boyette

    2004-06-01

    The present study investigated the associations between scores on paranormal beliefs, locus of control, and certain psychological processes such as affect and cognitions as measured by the Linguistic Inquiry and Word Count. Analysis yielded significant correlations between scores on Locus of Control and two subscales of Tobacyk's (1988) Revised Paranormal Beliefs Scale, New Age Philosophy and Traditional Paranormal Beliefs. A step-wise multiple regression analysis indicated that Locus of Control was significantly related to New Age Philosophy. Other correlations were found between Tobacyk's subscales, Locus of Control, and three processes measured by the Linguistic Inquiry and Word Count.

  10. Effect of (social) media on the political figure fever model: Jokowi-fever model

    Science.gov (United States)

    Yong, Benny; Samat, Nor Azah

    2016-02-01

    In recent years, political figures begin to utilize social media as one of alternative to engage in communication with their supporters. Publics referred to Jokowi, one of the candidates in Indonesia presidential election in 2014, as the first politician in Indonesia to truly understand the power of social media. Social media is very important in shaping public opinion. In this paper, effect of social media on the Jokowi-fever model in a closed population will be discussed. Supporter population is divided into three class sub-population, i.e susceptible supporters, Jokowi infected supporters, and recovered supporters. For case no positive media, there are two equilibrium points; the Jokowi-fever free equilibrium point in which it locally stable if basic reproductive ratio less than one and the Jokowi-fever endemic equilibrium point in which it locally stable if basic reproductive ratio greater than one. For case no negative media, there is only the Jokowi-fever endemic equilibrium point in which it locally stable if the condition is satisfied. Generally, for case positive media proportion is positive, there is no Jokowi-fever free equilibrium point. The numerical result shows that social media gives significantly effect on Jokowi-fever model, a sharp increase or a sharp decrease in the number of Jokowi infected supporters. It is also shown that the boredom rate is one of the sensitive parameters in the Jokowi-fever model; it affects the number of Jokowi infected supporters.

  11. Inside the CBF locus in Poaceae.

    Science.gov (United States)

    Tondelli, Alessandro; Francia, Enrico; Barabaschi, Delfina; Pasquariello, Marianna; Pecchioni, Nicola

    2011-01-01

    Several molecular evidences have been gathered in Poaceae that point out a central role of the CBF/DREB1 transcription factors in the signal transduction pathways leading to low-temperature tolerance, although to a quite different extent between crops originating from either temperate or tropical climates. A common feature of the CBF/DREB1 genes in Poaceae is their structural organization at the genome level in clusters of tandemly duplicated genes. In temperate cereals such as barley and wheat, expansion of specific multigene phylogenetic clades of CBFs that map at the Frost Resistance-2 locus has been exclusively observed. In addition, copy number variants of CBF genes between frost resistant and frost sensitive genotypes raise the question if multiple copies of the CBF/DREB1s are required to ensure freezing tolerance. On the other hand, in crops of tropical origin such as rice and maize, a smaller or less-responsive CBF regulon may have evolved, and different mechanisms might determine chilling tolerance. In this review, recent advances on the organization and diversity at the CBF cluster locus in the grasses are provided and discussed. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  12. Familial Mediterranean fever: An updated review

    Science.gov (United States)

    Sarı, İsmail; Birlik, Merih; Kasifoğlu, Timuçin

    2014-01-01

    Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder characterised by acute attacks of fever and serosal inflammation. FMF primarily affects Jewish, Armenian, Turkish, and Arab populations. The disease is accompanied by a marked decrease in quality of life due to the effects of attacks and subclinical inflammation in the attack-free periods. Untreated or inadequately treated patients run the risk of amyloidosis, which is an important cause of morbidity and mortality. In this review, the current information available on FMF is summarised. PMID:27708867

  13. Molecular epidemiology of Rift Valley fever virus.

    Science.gov (United States)

    Grobbelaar, Antoinette A; Weyer, Jacqueline; Leman, Patricia A; Kemp, Alan; Paweska, Janusz T; Swanepoel, Robert

    2011-12-01

    Phylogenetic relationships were examined for 198 Rift Valley fever virus isolates and 5 derived strains obtained from various sources in Saudi Arabia and 16 countries in Africa during a 67-year period (1944-2010). A maximum-likelihood tree prepared with sequence data for a 490-nt section of the Gn glycoprotein gene showed that 95 unique sequences sorted into 15 lineages. A 2010 isolate from a patient in South Africa potentially exposed to co-infection with live animal vaccine and wild virus was a reassortant. The potential influence of large-scale use of live animal vaccine on evolution of Rift Valley fever virus is discussed.

  14. [Q fever, a zoonosis often overlooked].

    Science.gov (United States)

    Delaloye, J; Greub, G

    2013-04-24

    Q fever is a zoonosis caused by an intracellular Gram-negative bacteria, Coxiella burnetii. Animals are the main reservoir and transmission to men generally is occurring by inhalation of contaminated aerosols. Acute Q fever generally is benign and usually resolves spontaneously. When symptomatic, the clinical presentation typically includes one of the following three syndromes: a flu-like illness, a granulomatous hepatitis or an atypical pneumonia. Individuals presenting risk factors such as patients with valvular heart diseases and vascular prostheses, as well as pregnant women and immuno-suppressed patients represent a population at risk of chronic infection, with endocarditis as the most common clinical form.

  15. Infectious causes of fever of unknown origin.

    Science.gov (United States)

    McGregor, Alastair C; Moore, David A

    2015-06-01

    The causes of fever of unknown origin (FUO) are changing because advances in clinical practice and diagnostics have facilitated the identification of some infections. A variety of bacterial infections can cause FUO, and these can be divided into those that are easy to identify using culture and those that require serological or molecular tests for identification. A number of viral, parasitic and fungal infections can also cause prolonged fever. This article summarises the clinical features and diagnostic strategy of these infections. © Royal College of Physicians 2015. All rights reserved.

  16. [Fever of unknown origin in adults].

    Science.gov (United States)

    Lambertucci, José Roberto; Avila, Renata Eliane de; Voieta, Izabela

    2005-01-01

    Fever of unknown origin has been defined as axillary temperature higher than 37.8 degrees C on several occasions, persisting without diagnosis for at least 3 weeks in spite of at least 1 week's investigation in hospital. Lately, the definition has been modified and extended to reflect evolutionary changes in clinical practice. In response to this new evolving environment, cases of fever of unknown origin are currently classified as: classic, nosocomial, in neutropenia, and human immunodeficiency virus-related. The objective of our review was to try and define and to update the information on the subject.

  17. Fever of unknown origin (FUO) revised

    OpenAIRE

    Unger, Manuel; Karanikas, Georgios; Kerschbaumer, Andreas; Winkler, Stefan; Aletaha, Daniel

    2016-01-01

    Summary Fever of unknown origin (FUO) was originally characterised in 1961 by Petersdorf and Beeson as a disease condition of temperature exceeding 38.3 °C on at least three occasions over a period of at least three weeks, with no diagnosis made despite one week of inpatient investigation. However, since underlying diseases are often reported for classical FUO, these presentations may not be considered to be of “unknown origin”. Rather, the aetiology of prolonged fever may resolve, or not res...

  18. [What is happening to acute rheumatic fever?].

    Science.gov (United States)

    Stéphan, J L

    1994-12-01

    Rheumatic fever is an inflammatory disease of the heart, joints, central nervous system and subcutaneous tissues that develops after a nasopharyngeal infection by one of the group A beta-haemolytic streptococci. The pathogenesis remains an enigma. As the disease has been less florid and some of the more characteristic manifestations less common in developed countries, it has become more difficult to establish the diagnosis on clinical grounds. Rheumatic fever and its sequellae are still active in developing countries. Carditis is a dominant feature of this social disease. Renewed educational efforts concerning this preventable disorder are needed among both physicians and the public.

  19. Chikungunya fever: current status in Mexico

    Directory of Open Access Journals (Sweden)

    Margarita Nava-Frías

    2016-03-01

    Full Text Available Chikungunya fever is a tropical vector-borne disease that has been spreading rapidly around the world during the last 10 years, and which has been usually misdiagnosed as dengue. Nowadays, this disease is increasing in Mexico, mainly in the southern and central zones of the country, being significantly more common in women, children and young adults (28% in < 20 years of age. The classical presentation includes fever, arthralgia, polyarthritis, back-pain, and skin rashes. Although symptoms and treatment are similar to those for dengue, there are key clinical features to differentiate these two diseases.

  20. Reducing Fever in Children: Safe Use of Acetaminophen

    Science.gov (United States)

    ... For Consumers Home For Consumers Consumer Updates Reducing Fever in Children: Safe Use of Acetaminophen Share Tweet ... re in the drug store, looking for a fever-reducing medicine for your children. They range in ...

  1. Typhoid Fever in Southern Taiwan: A Medical Center Experience

    Directory of Open Access Journals (Sweden)

    Hong-Ren Yu

    2008-08-01

    Conclusion: Pediatric patients with typhoid fever in southern Taiwan had less history of travel and developed fewer chills than adult patients. Careful examination and familiarity with the clinical manifestations are important factors in the early diagnosis of typhoid fever.

  2. Management of acute fever in children: Guideline for community ...

    African Journals Online (AJOL)

    Management of acute fever in children: Guideline for community healthcare ... Therefore, it is essential to distinguish between a child with fever who is at high risk ... the appropriate use of antipyretic medication and how to advise parents and ...

  3. Mothers' perception and management of childhood fevers at the ...

    African Journals Online (AJOL)

    ... of her anxiety and fear, and reflect on the way the fever is managed at home. ... common cause of fever while some reported teething (80%), witchcraft (26%), ... it could lead to blindness, anaemia, weakness, brain damage and death.

  4. Medical cost of Lassa fever treatment in Irrua Specialist Teaching ...

    African Journals Online (AJOL)

    Medical cost of Lassa fever treatment in Irrua Specialist Teaching Hospital, Nigeria. ... Log in or Register to get access to full text downloads. ... Of Lassa Fever Research and Control, Irrua Specialist Teaching Hospital (ISTH) Irrua, in Edo State, ...

  5. Controlling Hay Fever Symptoms with Accurate Pollen Counts

    Science.gov (United States)

    ... counts Share | Controlling Hay Fever Symptoms with Accurate Pollen Counts This article has been reviewed by Thanai ... rhinitis known as hay fever is caused by pollen carried in the air during different times of ...

  6. Mayaro fever in an HIV-infected patient suspected of having Chikungunya fever

    Directory of Open Access Journals (Sweden)

    Cássia Fernanda Estofolete

    Full Text Available Abstract Arboviruses impose a serious threat to public health services. We report a case of a patient returning from a work trip to the Amazon basin with myalgia, arthralgia, fever, and headache. During this travel, the patient visited riverside communities. Both dengue and Chikungunya fevers were first suspected, tested for, and excluded. Mayaro fever was then confirmed by reverse transcription polymerase chain reaction followed by next-generation sequencing and phylogenetic reconstruction. The increased awareness of physicians and consequent detection of Mayaro virus in this case was only possible due a previous surveillance program with specific health personnel training about these neglected arboviruses.

  7. Mayaro fever in an HIV-infected patient suspected of having Chikungunya fever.

    Science.gov (United States)

    Estofolete, Cássia Fernanda; Mota, Mânlio Tasso Oliveira; Vedovello, Danila; Góngora, Delzi Vinha Nunes de; Maia, Irineu Luiz; Nogueira, Maurício Lacerda

    2016-01-01

    Arboviruses impose a serious threat to public health services. We report a case of a patient returning from a work trip to the Amazon basin with myalgia, arthralgia, fever, and headache. During this travel, the patient visited riverside communities. Both dengue and Chikungunya fevers were first suspected, tested for, and excluded. Mayaro fever was then confirmed by reverse transcription polymerase chain reaction followed by next-generation sequencing and phylogenetic reconstruction. The increased awareness of physicians and consequent detection of Mayaro virus in this case was only possible due a previous surveillance program with specific health personnel training about these neglected arboviruses.

  8. Nursing experience of patients with epidemic hemorrhagic fever

    Directory of Open Access Journals (Sweden)

    Ling-yan ZHANG

    2014-04-01

    Full Text Available Objective: To explore the nursing methods of patients with epidemic hemorrhagic fever. Methods: Through careful nursing, 1 case of patients with epidemic hemorrhagic fever, summed up the experience. Results: Patients with epidemic hemorrhagic fever were 2 days later improved, within 6 months to fully recover. Conclusion: With proper treatment and careful nursing, patients with epidemic hemorrhagic fever are able to fully recover.

  9. The prevalence of Familial Mediterranean Fever common gene mutations in patients with simple febrile seizures.

    Science.gov (United States)

    Ozen, F; Kocak, N; Kelekci, S; Yildirim, I H; Hacimuto, G; Ozdemir, O

    2014-01-01

    Febrile seizures (FS) represent the most common form of childhood seizures that occurs in 2-5 % of the children younger than 6 years. There have been many recent reports on the molecular genetic and pathogenesis of FC. It has been recognized that there is significant genetic component for susceptibility of FC with different reported mutation. FEB1, FEB2, FEB4, SCNA1, SCNA2, GABRG2 and IL-1β are related to with febrile convulsions (FCs). Interleukin 1β (IL-1β) is a cytokine that contributes to febrile inflammatory responses. There are conflicting results on increasing this cytokine in serum during FC. The determine the association between mutations of MEFV gene product pyrine and febrile seizures. The study was carried out on 104 children that were diagnosed as FS and 96 healthy children. MEFV gene mutations were detected and analyzed with PyroMark Q24. PCR was performed using the PyroMark PCR Kit and pyrosequencing reaction was conducted on instrument instructions. M694V is the most common mutation in our patient group and we found a significant association between MEFV gene mutations and FSs. Of 104 patients, 68 were heterozygotes for any mutation and 10 patients were compound. 17.7% of control group were heterozygotes for any studied mutation.Statistical analyses showed that there was strongly significant statistical difference between results obtained from FS and control group (X = 46.20, p < 0.0001). MEFV gene mutations, especially M694V mutation, are positively associated with FSs.

  10. public health importance of lassa fever epidemiolggy, clinical features

    African Journals Online (AJOL)

    important precautive measures to take when handling a patient with Lassa fever. ... protective devices are important preventive measures when managing a patient with Lassa fever infection. As Lassa fever ... ness, as well as sexual contact with a partner during ... countries in Africa have reported Lassa outbreaks and.

  11. Lassa fever or lassa hemorrhagic fever risk to humans from rodent-borne zoonoses.

    Science.gov (United States)

    El-Bahnasawy, Mamdouh M; Megahed, Laila Abdel-Mawla; Abdalla Saleh, Hala Ahmed; Morsy, Tosson A

    2015-04-01

    Viral hemorrhagic fevers (VHFs) typically manifest as rapidly progressing acute febrile syndromes with profound hemorrhagic manifestations and very high fatality rates. Lassa fever, an acute hemorrhagic fever characterized by fever, muscle aches, sore throat, nausea, vomiting, diarrhea and chest and abdominal pain. Rodents are important reservoirs of rodent-borne zoonosis worldwide. Transmission rodents to humans occur by aerosol spread, either from the genus Mastomys rodents' excreta (multimammate rat) or through the close contact with infected patients (nosocomial infection). Other rodents of the genera Rattus, Mus, Lemniscomys, and Praomys are incriminated rodents hosts. Now one may ask do the rodents' ectoparasites play a role in Lassa virus zoonotic transmission. This paper summarized the update knowledge on LHV; hopping it might be useful to the clinicians, nursing staff, laboratories' personals as well as those concerned zoonoses from rodents and rodent control.

  12. Legionella (Legionnaires' Disease and Pontiac Fever): Diagnosis

    Science.gov (United States)

    ... Diagnóstico Legionellosis can present as two types of illness: Legionnaires’ disease and Pontiac fever. The two illnesses can be ... every 10 people who get sick with Legionnaires’ disease will die due to complications from their illness.[ 1 ] For those who get Legionnaires’ disease during ...

  13. Host-pathogen interactions in typhoid fever

    NARCIS (Netherlands)

    de Jong, H.K.

    2015-01-01

    This thesis focuses on host-pathogen interactions in Salmonella Typhi and Burkholderia pseudomallei infections and explores the interplay between these bacteria and the innate immune system. Typhoid fever is one of the most common causes of bacterial infection in low-income countries. With adequate

  14. Typhoid Fever on the Half Shell.

    Science.gov (United States)

    Gaul, Linda; Hellerstedt, John

    2017-02-01

    Protecting the public from communicable infectious disease outbreaks is one of the most important, and most challenging, functions of public health. Foodborne outbreaks are not uncommon, and they can be especially difficult. This true story of the epidemiologic investigation into a typhoid fever outbreak illustrates the critical importance of timely reporting by front-line clinicians, extensive interprofessional teamwork, and statewide coordination.

  15. immunisation fever amongst infants receiving Diphtheria

    African Journals Online (AJOL)

    PROF. EZECHUKWU

    2013-08-06

    Aug 6, 2013 ... common concern for parents and health-care profession- als fuelled by fears ... digital thermometer and a fever diary card, and was taught how to ... Place of delivery. Home. Public health facility. Private health facility. 61 (8.9).

  16. Diagnostic approaches for Rift Valley Fever

    Science.gov (United States)

    Disease outbreaks caused by arthropod-borne animal viruses (arboviruses) resulting in significant livestock and economic losses world-wide appear to be increasing. Rift Valley fever (RVF) virus (RVFV) is an important arbovirus that causes lethal disease in cattle, camels, sheep and goats in Sub-Saha...

  17. Reemergence of Rift Valley fever, Mauritania, 2010.

    Science.gov (United States)

    Faye, Ousmane; Ba, Hampathé; Ba, Yamar; Freire, Caio C M; Faye, Oumar; Ndiaye, Oumar; Elgady, Isselmou O; Zanotto, Paolo M A; Diallo, Mawlouth; Sall, Amadou A

    2014-02-01

    A Rift Valley fever (RVF) outbreak in humans and animals occurred in Mauritania in 2010. Thirty cases of RVF in humans and 3 deaths were identified. RVFV isolates were recovered from humans, camels, sheep, goats, and Culex antennatus mosquitoes. Phylogenetic analysis of isolates indicated a virus origin from western Africa.

  18. Imported Lassa fever, Pennsylvania, USA, 2010.

    Science.gov (United States)

    Amorosa, Valerianna; MacNeil, Adam; McConnell, Ryan; Patel, Ami; Dillon, Katherine E; Hamilton, Keith; Erickson, Bobbie Rae; Campbell, Shelley; Knust, Barbara; Cannon, Deborah; Miller, David; Manning, Craig; Rollin, Pierre E; Nichol, Stuart T

    2010-10-01

    We report a case of Lassa fever in a US traveler who visited rural Liberia, became ill while in country, sought medical care upon return to the United States, and subsequently had his illness laboratory confirmed. The patient recovered with supportive therapy. No secondary cases occurred.

  19. Host-pathogen interactions in typhoid fever

    NARCIS (Netherlands)

    de Jong, H.K.

    2015-01-01

    This thesis focuses on host-pathogen interactions in Salmonella Typhi and Burkholderia pseudomallei infections and explores the interplay between these bacteria and the innate immune system. Typhoid fever is one of the most common causes of bacterial infection in low-income countries. With adequate

  20. Cases of typhoid fever in Copenhagen region

    DEFF Research Database (Denmark)

    Barrett, Freja Cecille; Knudsen, Jenny Dahl; Johansen, Isik Somuncu

    2013-01-01

    Typhoid fever is a systemic illness which in high-income countries mainly affects travellers. The incidence is particularly high on the Indian subcontinent. Travellers who visit friends and relatives (VFR) have been shown to have a different risk profile than others. We wished to identify main ch...

  1. Rift Valley fever: A neglected zoonotic disease?

    Science.gov (United States)

    Rift Valley fever (RVF) is a serious viral disease of animals and humans in Africa and the Middle East that is transmitted by mosquitoes. First isolated in Kenya during an outbreak in 1930, subsequent outbreaks have had a significant impact on animal and human health, as well as national economies. ...

  2. Alkhurma Hemorrhagic Fever in Saudi Arabia

    Centers for Disease Control (CDC) Podcasts

    2010-10-28

    This podcast looks at the epidemiologic characteristics of Alkhurma Hemorrhagic Fever in humans in Najran City, Saudi Arabia. CDC epidemiologist Dr. Adam MacNeil discusses the severity and risk factors for the illness.  Created: 10/28/2010 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 11/17/2010.

  3. [Arbovirus causing hemorrhagic fever at IMSS].

    Science.gov (United States)

    Navarrete-Espinosa, Joel; Gómez-Dantés, Héctor

    2006-01-01

    To know the arbovirus causing hemorrhagic fever in patients at the Mexican Institute of Social Security. A follow-up study was made in patients with probable diagnosis of hemorrhagic dengue. Blood samples were taken to look for dengue fever, yellow fever and San Luis, Tonate and Mayaro encephalitis viruses. Frequencies and proportions of the interest variables were analyzed. 35 patients were studied. Isolation and PCR results of the 13 samples were negative in 12 of them and positive to denguevirus-3 in one of them. The determination of IgM was positive for dengue fever in 25 cases; 2 were positive to Mayaro virus and 8 were negative to what was looked for. Hemorrhages and thrombocytopenia were more frequent in patients infected with dengue and Mayaro viruses; jaundice and encephalopathy were more frequent in the latter, and renal dysfunction, in patients with a negative result. Evolution was satisfactory in all cases, except for one (Mayaro), which presented hemorrhages, thrombocytopenia, jaundice and encephalopathy that lead to death. The results show the risk of appearance and dissemination of several vector-born diseases in Mexico. Thus, they require intensive epidemiological surveillance to identify them and to know their real occurrence and specific clinical profile.

  4. Enzootic transmission of yellow fever virus, Venezuela.

    Science.gov (United States)

    Auguste, Albert J; Lemey, Philippe; Bergren, Nicholas A; Giambalvo, Dileyvic; Moncada, Maria; Morón, Dulce; Hernandez, Rosa; Navarro, Juan-Carlos; Weaver, Scott C

    2015-01-01

    Phylogenetic analysis of yellow fever virus (YFV) strains isolated from Venezuela strongly supports YFV maintenance in situ in Venezuela, with evidence of regionally independent evolution within the country. However, there is considerable YFV movement from Brazil to Venezuela and between Trinidad and Venezuela.

  5. Dengue fever with unusual thalamic involvement.

    Science.gov (United States)

    Mallick, Asim Kumar; Purkait, Radheshyam; Sinhamahapatra, Tapan Kumar

    2012-01-01

    Dengue is the most important mosquito-borne viral disease in the world and is caused by four distinct viruses (type 1 to 4) that are closely related antigenically. Infection by dengue virus may be asymptomatic or may lead to undifferentiated fever, dengue fever or dengue haemorrhagic fever. Recent observations indicate that the clinical profile of dengue is changing and the neurological complications are being reported more frequently. The neurological features includeheadache, seizures, neck stiffness, depressed sensorium, behavioural disorders, delirium, paralysis and cranial nerve palsies. Such neurological symptoms in dengue fever wereattributed to cerebral oedema, haemorrhage, haemoconcentration due to increasing vascular permeability, coagulopathy and release of toxic substances. Cerebral oedema, encephalitis-like changes (oedema and scattered focal lesions), intracranial haemorrhages as well as selective involvement of bilateral hippocampus in dengue infection have been reported previously on selective neuro-imaging but thalamic involvement is rare. We here report a case of a typical presentation of encephalopathy with left sided complete hemiplegia due to thalamic involvement in dengue infection.

  6. Facing dengue fever - our first experience

    Directory of Open Access Journals (Sweden)

    Cvjetković Dejan

    2017-01-01

    Full Text Available Introduction. Dengue fever is a mosquito-borne disease caused by dengue virus, endemic in tropical and subtropical regions, where it is mostly imported from. The most common clinical form is classic dengue fever. We presented the first dengue case microbiologically confirmed in Serbia. Case report. A 34-year-old male got classic dengue fever after arrival from Cuba. The disease occurred suddenly with fever, myalgias, skin rash, hepatosplenomegaly, cytopenia, abnormal aminotransferase and creatine kinase levels. The diagnosis was confirmed with virological diagnostic methods. Significant leukopenia and thrombocytopenia as well as elevation of serum creatine kinase activity were recorded from the very beginning of hospitalization, but were gradually normalized. The whole duration of hospitalization was accompanied by laboratory signs of liver lesion. The disease had favourable outcome. At hospital discharge, the patient was afebrile, asymptomatic, with discrete erythematous rash on torso and arms, normal hemathological values and creatine kinase level and moderately elevated alanine-aminotransferase level. Conclusion. Considering global climate changes and growing international traffic, our health care service needs to be ready for possible massive outbreaks of dengue and other tropical infectious diseases in forthcoming years.

  7. Dengue and dengue haemorrhagic fever: Indian perspective

    Indian Academy of Sciences (India)

    U C Chaturvedi; Rachna Nagar

    2008-11-01

    The relationship of this country with dengue has been long and intense. The first recorded epidemic of clinically dengue-like illness occurred at Madras in 1780 and the dengue virus was isolated for the first time almost simultaneously in Japan and Calcutta in 1943–1944. After the first virologically proved epidemic of dengue fever along the East Coast of India in 1963–1964, it spread to allover the country. The first full-blown epidemic of the severe form of the illness, the dengue haemorrhagic fever/dengue shock syndrome occurred in North India in 1996. Aedes aegypti is the vector for transmission of the disease. Vaccines or antiviral drugs are not available for dengue viruses; the only effective way to prevent epidemic degure fever/dengue haemorrhagic fever (DF/DHF) is to control the mosquito vector, Aedes aegypti and prevent its bite. This country has few virus laboratories and some of them have done excellent work in the area of molecular epidemiology, immunopathology and vaccine development. Selected work done in this country on the problems of dengue is presented here.

  8. Studies on Typhus and Spotted Fever.

    Science.gov (United States)

    1981-02-01

    Heterogeneity among Rickettsia tsutsugamushi isolates: A protein analysis. 8. David J. Silverman, Charles L. Wisseman, Jr. and Anna Waddell. Envelopment and...the Conference and are also in press. 10. Paul Fiset, Charles L. Wisseman, Jr., A. Farhang-Azad, Harvey Fischman . Rocky Mountain Spotted Fever in

  9. Epidemiology and control of bovine ephemeral fever.

    Science.gov (United States)

    Walker, Peter J; Klement, Eyal

    2015-10-28

    Bovine ephemeral fever (or 3-day sickness) is an acute febrile illness of cattle and water buffaloes. Caused by an arthropod-borne rhabdovirus, bovine ephemeral fever virus (BEFV), the disease occurs seasonally over a vast expanse of the globe encompassing much of Africa, the Middle East, Asia and Australia. Although mortality rates are typically low, infection prevalence and morbidity rates during outbreaks are often very high, causing serious economic impacts through loss of milk production, poor cattle condition at sale and loss of traction power at harvest. There are also significant impacts on trade to regions in which the disease does not occur, including the Americas and most of Europe. In recent years, unusually severe outbreaks of bovine ephemeral fever have been reported from several regions in Asia and the Middle East, with mortality rates through disease or culling in excess of 10-20%. There are also concerns that, like other vector-borne diseases of livestock, the geographic distribution of bovine ephemeral fever could expand into regions that have historically been free of the disease. Here, we review current knowledge of the virus, including its molecular and antigenic structure, and the epidemiology of the disease across its entire geographic range. We also discuss the effectiveness of vaccination and other strategies to prevent or control infection.

  10. [Prospective study of patients with prolonged fever].

    Science.gov (United States)

    Calderón, E; Legorreta, J; Sztabinski, G; Hernández, M; Wilkins, A; Gómez, D; Dávila, A

    1975-01-01

    A prospective study was made in 283 patients who attended IMAN's Children's Hospital, with fever the main symptom. A clinical and paraclinical procedure was designed for the study of each patient. 112 patients were eliminated because they did not follow the established criteria. All patients had acute infectious diseases considered trivial; 85% were 3 weeks to 2 years of age. They all had an antibacterial treatment without precise diagnosis. It was considered that on admission the patients showed a normal course in the natural history of the basic disease. The study group included 171 patients 2 months to 13 years of age; 62.5% had fever due to infection, 12.2% to collagenopathies, 7% to neoplasias 5.2% to miscellaneous causes and 12.8% were not diagnosed. The most common infectious causes for prolonged fever were tuberculosis, upper respiratory infections, amoebic liver abscess, typhoid fever and malaria. Careful questioning and clinical examination were enough to enlighten diagnosis in more than 80% of the patients.

  11. Dengue Fever in the United States

    Centers for Disease Control (CDC) Podcasts

    2012-04-09

    Dr. Amesh Adalja, an associate at the Center for Biosecurity and clinical assistant professor at the University of Pittsburgh School, of Medicine, discusses dengue fever outbreaks in the United States.  Created: 4/9/2012 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 4/16/2012.

  12. Turkish population data on the short tandem repeat locus TPOX

    DEFF Research Database (Denmark)

    Vural, B; Poda, M; Atlioglu, E;

    1998-01-01

    Allele and genotype frequencies were determined for the STR (short tandem repeat) locus TPOX in a random Turkish population sample of 200 individuals.......Allele and genotype frequencies were determined for the STR (short tandem repeat) locus TPOX in a random Turkish population sample of 200 individuals....

  13. Metacognition: As a Predictor of One's Academic Locus of Control

    Science.gov (United States)

    Arslan, Serhat; Akin, Ahmet

    2014-01-01

    The purpose of this study is to examine the effect of metacognition on one's academic locus of control. The study's sample group consists of 451 university students enrolled in various programs at Sakarya University, Turkey. In this study, the Metacognitive Awareness Inventory and the Academic Locus of Control Scale were used. The correlations and…

  14. Locus of Control, Attitudes toward Education, and Teaching Behaviors.

    Science.gov (United States)

    Kremer, Lya

    1982-01-01

    Tests 191 elementary school teachers in northern Israel for the relationships among locus of control, traditional and progressive educational attitudes, and related teaching behaviors. Finds external and internal locus of control explain the variance in traditional and progressive attitudes, respectively, and teaching behaviors. (Author/LC)

  15. The Cut Locus of a Torus of Revolution

    DEFF Research Database (Denmark)

    Gravesen, Jens; Markvorsen, Steen; Sinclair, Robert

    2005-01-01

    We determine the structure of the cut locus of a class of tori of revolution, which includes the standard tori in 3-dimensional Euclidean space.......We determine the structure of the cut locus of a class of tori of revolution, which includes the standard tori in 3-dimensional Euclidean space....

  16. Locus of control and investment in risky assets

    NARCIS (Netherlands)

    Salamanca, N.; de Grip, A.; Fouarge, D.; Montizaan, R.M.

    2013-01-01

    Using representative household panel data, we show that the investment behavior of households is related to the economic locus of control of household heads. A household's internal locus of control in economic issues is positively related to its decision to hold risky assets as well as its share of

  17. Locus of Control and Protection of Consumer Rights

    Directory of Open Access Journals (Sweden)

    Ivan Krastev

    2012-10-01

    Full Text Available This paper examines the influence of locus of control on the consumer behavior. Theoretical supposition is proven by analyzing empirical data from a study of 287 students. The methods assessed the capacity for defending personal and consumer rights, as well as the type of locus of control.

  18. Locus of Control in Underachieving and Achieving Gifted Students.

    Science.gov (United States)

    McClelland, Robert; And Others

    1991-01-01

    This study, with 87 underachieving and 77 achieving gifted students in grades 6-9, found that general locus of control measures did not differentiate between the 2 groups, that both scored significantly higher on positive internal than on negative internal locus of control, and that there were no gender or grade effects. (Author/DB)

  19. Locus of Control and Marital Stability: A Longitudinal Study.

    Science.gov (United States)

    Constantine, John A.; Bahr, Stephen J.

    1980-01-01

    Investigated relationship between locus of control and marital stability of young men. Factors derived from locus of control measures included leadership, personal, and fate scales. Results indicated the only significant difference was on the leadership scale between men remaining married and those who did not. (RC)

  20. Personality and Locus of Control among School Children

    Science.gov (United States)

    Pandya, Archana A.; Jogsan, Yogesh A.

    2013-01-01

    The main purpose of this investigation is to find out the sex differences in personality traits and locus of control among school children. A total 60 children (30 boys and 30 girls) were taken as a sample. The research tool for personality, children personality questionnaire was used, which was made by Cattell and Porter. Locus of control was…