Q Fever as a Cause of Fever of Unknown Origin and Thrombocytosis: First Molecular Evidence of Coxiella burnetii in Brazil

2011 ◽  
Vol 11 (1) ◽  
pp. 85-87 ◽  
Author(s):  
Elba R.S. Lemos ◽  
Tatiana Rozental ◽  
Maria Angélica M. Mares-Guia ◽  
Daniele N.P. Almeida ◽  
Namir Moreira ◽  
...  
2015 ◽  
Vol 10 (1) ◽  
pp. 58
Author(s):  
Davide Tizzani ◽  
Silvia Totaro ◽  
Valentina Laura Crudo ◽  
Andrea Viola ◽  
Vittorio Gallo ◽  
...  

Q fever is an infectious disease caused by <em>Coxiella burnetii.</em> Its clinical presentation is often nonspecific and the serological diagnosis difficult to make, especially in the absence of specific and suspected medical history. This article presents a case of fever of unknown origin (FUO), interpreted as an autoimmune hepatitis, later proven by the liver biopsy to be a granulomatous hepatitis caused by <em>C. burnetii</em>. The approach to FUO, the features of granulomatous hepatitis and Q fever are presented and discussed.


Author(s):  
Paulo Sérgio Gonçalves da Costa ◽  
Marco Emilio Brigatte ◽  
Dirceu Bartolomeu Greco

Q fever has been considered non-existing in Brazil where reports of clinical cases still cannot be found. This case-series of 16 patients is a result of a systematic search for such illness by means of clinical and serologic criteria. Serologic testing was performed by the indirect microimmunofluorescence technique using phase I/II C. burnetii antigens. Influenza-like syndrome was the most frequent clinical form (eight cases - 50%), followed by pneumonia, FUO (fever of unknown origin), mono-like syndrome (two cases - 12.5% each), lymphadenitis (one case - 6.3%) and spondylodiscitis associated with osteomyelitis (one case - 6.3%). The ages varied from four to 67 years old with a median of 43.5. All but one patient had positive serologic tests for phase II IgG whether or not associated with IgM positivity compatible with acute infection. One patient had both phase I and phase II IgG antibodies compatible with chronic Q fever. Seroconvertion was detected in 10 patients. Despite the known limitations of serologic diagnosis, the cases here reported should encourage Brazilian doctors to include Q fever as an indigenous cause of febrile illness.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Yuanying Chen ◽  
Boliang Fang ◽  
Xuyun Hu ◽  
Ruolan Guo ◽  
Jun Guo ◽  
...  

Abstract Background Thiamine metabolism dysfunction syndrome 4 (THMD4, OMIM #613710) is an autosomal recessive inherited disease caused by the deficiency of SLC25A19 that encodes the mitochondrial thiamine pyrophosphate (TPP) transporter. This disorder is characterized by bilateral striatal degradation and progressive polyneuropathy with the onset of fever of unknown origin. The limited number of reported cases and lack of functional annotation of related gene variants continue to limit diagnosis. Results We report three cases of encephalopathy from two unrelated pedigrees with basal ganglia signal changes after fever of unknown origin. To distinguish this from other types of encephalopathy, such as acute necrotizing encephalopathy, exome sequencing was performed, and four novel heterozygous variations, namely, c.169G>A (p.Ala57Thr), c.383C>T (p.Ala128Val), c.76G>A (p.Gly26Arg), and c.745T>A (p.Phe249Ile), were identified in SLC25A19. All variants were confirmed using Sanger sequencing. To determine the pathogenicity of these variants, functional studies were performed. We found that mitochondrial TPP levels were significantly decreased in the presence of SLC25A19 variants, indicating that TPP transport activities of mutated SLC25A19 proteins were impaired. Thus, combining clinical phenotype, genetic analysis, and functional studies, these variants were deemed as likely pathogenic. Conclusions Exome sequencing analysis enables molecular diagnosis as well as provides potential etiology. Further studies will enable the elucidation of SLC25A19 protein function. Our investigation supplied key molecular evidence for the precise diagnosis of and clinical decision-making for a rare disease.


2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Ashraf Mohabati Mobarez ◽  
Ehsan Mostafavi ◽  
Mohammad Khalili ◽  
Saber Esmaeili

Coxiella burnetii is the causative agent of Q fever in humans and animals. This study aimed to determine the frequency of C. burnetii in milk samples of dairy animals (goats, sheep, and cattle) in some selected regions in Iran, where there is no information about prevalence of C. burnetii. In this study, 162 individual milk samples were collected from 43 farms in three provinces (Tehran, Hamadan, and Mazandaran). Real-time PCR was used for the detection of IS1111a element of C. burnetii. In total, 23 of 162 samples (14.2%, 95% confidence interval (CI): 9.65–20.2%) were positive for C. burnetii by real-time PCR. C. burnetii was detected in 10.17% (95% CI: 4.74–20.46) of goat milk samples. In sheep milk samples, 18.6% (95% CI: 9.74–32.62) were positive, and C. burnetii was detected in 15% (95% CI: 8.1–26.11) of cattle milk samples. Molecular evidence of the presence of C. burnetii was seen in milk samples of dairy animals in all the studied regions. These findings demonstrated that C. burnetii infection, especially in raw milk samples, deserves more attention from the health care system and veterinary organization in Iran.


2008 ◽  
Vol 107 (11) ◽  
pp. 896-901 ◽  
Author(s):  
Po-Han Lin ◽  
Yi-Chun Lo ◽  
Fu-Tien Chiang ◽  
Jiun-Ling Wang ◽  
Yung-Ming Jeng ◽  
...  

2013 ◽  
Vol 12 (1) ◽  
pp. 138-141 ◽  
Author(s):  
Nancy Aguilar-Olivos ◽  
María del Carmen Manzano-Robleda ◽  
Ylse Gutiérrez-Grobe ◽  
Fredy Chablé-Montero ◽  
Jorge Albores-Saavedra ◽  
...  

2013 ◽  
Vol 48 (4) ◽  
pp. 339-341
Author(s):  
Ozben Ceylan ◽  
Senem Ozgur ◽  
Utku Arman Orun ◽  
Mahmut Keskin ◽  
Selmin Karademir ◽  
...  

2019 ◽  
Vol 65 (01+02/2019) ◽  
Author(s):  
Stefka Krumova ◽  
Adelina Pavlova ◽  
Kamelia Yotovska ◽  
Petia Genova-Kalou

2020 ◽  
Vol 13 (12) ◽  
pp. 2578-2586
Author(s):  
Hypy Abbass ◽  
Salah Abdel Kareem Selim ◽  
Mona M. Sobhy ◽  
Mohamed A. El-Mokhtar ◽  
Mahmoud Elhariri ◽  
...  

Background and Aim: Q fever is considered a neglected zoonotic disease and is caused by Coxiella burnetii. Very little information is available on C. burnetii infections in cattle, sheep, and goat populations in Egypt. The aim of this study was to identify the seroprevalence of C. burnetii in humans and livestock and to test for the presence of C. burnetii DNA in sera from seropositive animals and humans. Materials and Methods: Blood samples were collected from 160 apparently healthy farm animals and 120 patients from three hospitals of the Assiut Governorate throughout 2017/2018. These populations were tested for antibodies against C. burnetii phase II antigen by immunofluorescence assay [IFA]) and enzyme-linked immunosorbent assay (ELISA). Seropositive samples were subjected to real-time quantitative polymerase chain reaction (RT-qPCR). Results: The results of the IFA revealed C. burnetii seroprevalence rates of 45.3%, 56.0%, 45.7%, and 53.3% in cattle, sheep, goats, and humans, respectively. In humans, the seroprevalence rates were 52.1%, 30.4%, 37.5%, 74.1%, and 62.5% in patients with fever of unknown origin, influenza, kidney dialysis, hepatitis C virus, and hepatitis B virus, respectively. Likewise, by ELISA, the seroprevalence in bovine was 50.7%; sheep, 60.0%; goats, 51.4%; and humans, 55.0% (54.3%, 30.4%, 37.5%, 77.8%, and 62.5% in patients with fever of unknown origin, influenza, kidney dialysis, hepatitis C virus, and hepatitis B virus, respectively). RT-qPCR targeting the repetitive element IS1111 confirmed the presence of C. burnetii DNA. Conclusion: These results proved that apparently healthy cattle, sheep, and goats may be very important reservoirs of C. burnetii infection. In light of these data, the effect of Q fever on the replication of hepatitis virus remains unclear. Although hepatitis is one of the main aspects of acute Q fever, the influence of hepatitis on Q fever remains to be investigated. Q fever is not a reportable disease in Egypt, and clinical cases may rarely be recognized by the health-care system. Additional information on the epidemiology of C. burnetii in Egypt is warranted, including other associated problems such as the distribution of infections, pathologic hallmarks, and molecular typing.


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