Genotyping of Parasites: Implications on Clinical Manifestations and Epidemiology

QJM ◽  
2020 ◽  
Vol 113 (Supplement_1) ◽  
Author(s):  
K E Khalifa

Abstract Genotyping is the technology that detects small genetic differences at the level of specific alleles by comparing a DNA sequence to that of another sample or a reference sequence. Genetic variations at a specific allele may lead to change in phenotype of the organisms that determine virulence, drug resistance, immune response, clinical manifestations and transmission. The aim of the talk is to present the basics of genotyping technology and the implications of parasite genotype on clinical manifestations and epidemiology with reference to Toxoplasma gondii.

1970 ◽  
Vol 5 (4) ◽  
pp. 51-60
Author(s):  
José Henrique Pereira Pinto ◽  
Renan Lemos de Toledo ◽  
William do Prado Franquelo

RESUMOIntrodução: Alergia à Proteína do Leite de Vaca (APLV) é uma doença inflamatória secundária à reação imunológica contra uma ou mais proteínas do leite de vaca (LV) que afeta principalmente a faixa pediátrica. A real prevalência é discutida em muitos estudos. As manifestações clínicas dependem do tipo da resposta imunológica, ser IgE mediada ou não. Os sintomas se iniciam por volta dos 06 meses de vida e na maioria dos casos, esse processo alérgico regride, com o paciente desenvolvendo tolerância até a adolescência. Casuística: Relata-se um caso de um paciente do sexo masculino, apresentando desde os 6 meses de idade de anafilaxia e broncoespasmo. Nesta época foi levado em hospitais e ambulatórios sendo diagnosticado e tratado como asma apenas, porém sem sucesso. Aos 18 anos, em consulta com especialista foi diagnosticado com APLV, apesar da dieta de exclusão, apresentou diversas reações anafiláticas, devido a ingestão acidental do alérgeno. Discussão: O paciente iniciou os primeiros sintomas quando houve contato com LV e apresentou teste laboratorial com valores compatíveis a patologia. Segundo a literatura a prevalência de APLV cai para menos de 1% aos 6 anos de vida e está persistência pode estar associada a múltiplos fatores, no caso relatado, o paciente não apresentou tolerância até o presente momento. Conclusão: APLV é uma doença usualmente de criança em que, se estas não adquirirem tolerância, complicações podem perdurar indefinidamente. O Diagnóstico precoce e o manejo adequado desta condição, revela grande importância na qualidade de vida e na prevenção de anafilaxia.Palavras chave: Alergia, Proteína do leite de vaca, Anafilaxia. ABSTRACT Introduction: Allergy to cow's milk (CMPA) is an inflammatory disease Introduction: Allergy to cow's milk (CMPA) is an inflammatory disease secondary to immune response against one or more cow's milk proteins (LV) which primarily affects pediatric patients. The current prevalence is discussed in many studies. The clinical manifestations depend on the type of immune response, being IgE mediated or not. Symptoms start at about 06 months of life and in most cases, the allergic process subsides, and the patient develops tolerance through adolescence. Case Report: We report the case of a male patient, who was presenting, since his 06 months of age, anaphylaxis and bronchospasm. At that time he was taken into hospitals and clinics being diagnosed and treated as asthma, but without success. At 18, in consultation with expert was diagnosed with CMPA, and despite the exclusion diet, presented several anaphylactic reactions due to accidental ingestion of the allergen. Discussion: The patient began the first symptoms when there was contact with LV and presented laboratory test values compatible with the pathology. According to the literature the prevalence of CMPA drops to less than 1% to 6 years of life and this persistence can be associated with multiple factors, in our case, the patient did not develop tolerance to date. Conclusion: CMPA is usually a child disease but ,if they do not acquire tolerance, complications can last indefinitely. Early diagnosis and appropriate management of this condition, reveals a great deal on quality of life and prevention of anaphylaxis. Keywords: Allergy, Cow’s milk protein, Anaphylaxis. 


2018 ◽  
Vol 15 (1) ◽  
pp. 77-84 ◽  
Author(s):  
Nathieli B. Bottari ◽  
Micheli M. Pillat ◽  
Maria R.C. Schetinger ◽  
Karine P. Reichert ◽  
Vanessa Machado ◽  
...  

1993 ◽  
Vol 13 (10) ◽  
pp. 6012-6023 ◽  
Author(s):  
R Cafferkey ◽  
P R Young ◽  
M M McLaughlin ◽  
D J Bergsma ◽  
Y Koltin ◽  
...  

Rapamycin is a macrolide antifungal agent that exhibits potent immunosuppressive properties. In Saccharomyces cerevisiae, rapamycin sensitivity is mediated by a specific cytoplasmic receptor which is a homolog of human FKBP12 (hFKBP12). Deletion of the gene for yeast FKBP12 (RBP1) results in recessive drug resistance, and expression of hFKBP12 restores rapamycin sensitivity. These data support the idea that FKBP12 and rapamycin form a toxic complex that corrupts the function of other cellular proteins. To identify such proteins, we isolated dominant rapamycin-resistant mutants both in wild-type haploid and diploid cells and in haploid rbp1::URA3 cells engineered to express hFKBP12. Genetic analysis indicated that the dominant mutations are nonallelic to mutations in RBP1 and define two genes, designated DRR1 and DRR2 (for dominant rapamycin resistance). Mutant copies of DRR1 and DRR2 were cloned from genomic YCp50 libraries by their ability to confer drug resistance in wild-type cells. DNA sequence analysis of a mutant drr1 allele revealed a long open reading frame predicting a novel 2470-amino-acid protein with several motifs suggesting an involvement in intracellular signal transduction, including a leucine zipper near the N terminus, two putative DNA-binding sequences, and a domain that exhibits significant sequence similarity to the 110-kDa catalytic subunit of both yeast (VPS34) and bovine phosphatidylinositol 3-kinases. Genomic disruption of DRR1 in a mutant haploid strain restored drug sensitivity and demonstrated that the gene encodes a nonessential function. DNA sequence comparison of seven independent drr1dom alleles identified single base pair substitutions in the same codon within the phosphatidylinositol 3-kinase domain, resulting in a change of Ser-1972 to Arg or Asn. We conclude either that DRR1 (alone or in combination with DRR2) acts as a target of FKBP12-rapamycin complexes or that a missense mutation in DRR1 allows it to compensate for the function of the normal drug target.


Author(s):  
Amy C Schumacher ◽  
Lina I Elbadawi ◽  
Traci DeSalvo ◽  
Anne Straily ◽  
Daniel Ajzenberg ◽  
...  

Abstract Background During 2017, in response to a physician’s report, the Wisconsin Department of Health Services, Division of Public Health, began investigating an outbreak of febrile illness among attendees of a retreat where never frozen, intentionally undercooked, locally harvested venison was served. Preliminary testing tentatively identified the illness as toxoplasmosis. Methods Confirmatory human serology panels and testing of the venison to confirm and categorize the presence and type of Toxoplasma gondii were completed by French and American national reference laboratories. All 12 retreat attendees were interviewed; medical records were reviewed. Results All attendees were male; median age was 51 years (range: 22–75). After a median incubation period of 7 days, 9 (82%) of 11 exposed persons experienced illness lasting a median of 12 days. All 9 sought outpatient healthcare for symptoms including fever, chills, sweats, and headache (100%) and ocular disturbances (33%). Testing confirmed the illness as toxoplasmosis and venison as the infection source. Multiple laboratory results were atypical for toxoplasmosis, including transaminitis (86%), lymphocytopenia (88%), thrombocytopenia (38%), and leukopenia (63%). One exposed but asymptomatic person was seronegative; the other had immunity from prior infection. The T. gondii strain was identified as closely related to an atypical genotype (haplogroup 12, polymerase chain reaction restriction fragment length polymorphism genotype 5) common in North American wildlife but with previously uncharacterized human clinical manifestations. Conclusions The T. gondii strain contaminating the venison might explain the unusual clinical presentations. In North America, clinicians and venison consumers should be aware of risk for severe or unusual presentations of acute toxoplasmosis after consuming undercooked game meat.


2010 ◽  
Vol 138 (5-6) ◽  
pp. 333-336 ◽  
Author(s):  
Snezana Brkic ◽  
Gorana Gajski ◽  
Mirjana Bogavac ◽  
Daniela Maric ◽  
Vesna Turkulov ◽  
...  

Introduction Toxoplasmosis is an acute infectious anthropozoonotic disease with mild asymptomatic clinical manifestations in immunocompetent persons and more severe in immunocompromised patients. Acute infection in pregnancy can result in severe congenital toxoplasmosis with severe sequels. Objective Aims of study were to detect Toxoplasma gondii seroprevalence in general population of Vojvodina, Serbia, differences between genders and determination of seroprevalence in women of reproductive age and pregnant women. Methods Our retrospective study was conducted from 2006 to 2008 including 625 immunocompetent patients, hospitalized or observed as outpatients at the Clinical Centre of Vojvodina, Novi Sad. We performed commercial ELISA kits SERION - ELISA classic test by VIRION for the presence of specific IgG and IgM antibodies. According to seroepidemiological aim of the study, our results were presented only in qualitative values. Results We observed 173 male and 452 female patients. Seroprevalence in general population of Vojvodina was 38.1%. In male population seroprevalence was 45.7%, and in female population it was 35.2%, the difference which was statistically significant (p<0.05). Seroprevalence increased with age and seroconversion was detected to occur in persons aged about 20 years. In all female patients, 353 (78.1%) were in reproductive age with seroprevalence of 30%. In 161 pregnant women seroprevalence was 31.7%. Conclusion In this study we screened actual seroepidemiological situation to Toxoplasma gondii in Vojvodina, thus giving a contribution to the continuous epidemiological screening done in this region and in the country. According to our results, almost 70% of women in reproductive age were sensitive to primary acute infection during further pregnancies, which is highly important for the prevention of congenital toxoplasmosis. Although not routinely conducted in many countries, routine serological testing to Toxoplasma gondii in pregnant women and their education about preventive measures against this infection could be an effective measure in the future.


2013 ◽  
Vol 2013 ◽  
pp. 1-9 ◽  
Author(s):  
Hua Cong ◽  
Min Zhang ◽  
Qingli Zhang ◽  
Jing Gong ◽  
Haizi Cong ◽  
...  

Toxoplasma gondiiis a protozoan parasite capable of infecting humans and animals. Surface antigen glycoproteins, SAG2C, -2D, -2X, and -2Y, are expressed on the surface of bradyzoites. These antigens have been shown to protect bradyzoites against immune responses during chronic infections. We studied structures of SAG2C, -2D, -2X, and -2Y proteins using bioinformatics methods. The protein sequence alignment was performed by T-Coffee method. Secondary structural and functional domains were predicted using software PSIPRED v3.0 and SMART software, and 3D models of proteins were constructed and compared using the I-TASSER server, VMD, and SWISS-spdbv. Our results showed that SAG2C, -2D, -2X, and -2Y are highly homologous proteins. They share the same conserved peptides and HLA-I restricted epitopes. The similarity in structure and domains indicated putative common functions that might stimulate similar immune response in hosts. The conserved peptides and HLA-restricted epitopes could provide important insights on vaccine study and the diagnosis of this disease.


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