scholarly journals Whole genome sequences of Treponema pallidum subsp. endemicum isolated from Cuban patients: the non-clonal character of isolates suggests a persistent human infection rather than a single outbreak

2021 ◽  
Author(s):  
Eliška Vrbová ◽  
Angel A. Noda ◽  
Linda Grillová ◽  
Islay Rodríguez ◽  
Allyn Forsyth ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Venereal Disease ◽  
Treponema Pallidum ◽  
Human Infection ◽  
Nucleotide Substitutions ◽  
Nucleotide Variability ◽  
Imported Case ◽  
Dry Climates ◽  
Cuban Population

Bejel (endemic syphilis) is a neglected non-venereal disease caused by Treponema pallidum subsp. endemicum (TEN). Although it is mostly present in hot, dry climates, a few cases have been found outside of these areas. The aim of this work was the sequencing and analysis of TEN isolates obtained from "syphilis patients" in Cuba, which is not considered an endemic area for bejel. Genomes were obtained by pool segment genome sequencing or direct sequencing methods, and the bioinformatics analysis was performed according to an established pipeline. We obtained four genomes with 100%, 81.7%, 52.6%, and 21.1% of broad coverage, respectively. The sequenced genomes revealed a non-clonal character, with nucleotide variability ranging between 0.2–10.3 nucleotide substitutions per 100 kbp among the TEN isolates. Nucleotide changes affected 27 genes, and the analysis of the completely sequenced genome also showed a recombination event between tprC and tprI, in TP0488 as well as in the intergenic region between TP0127–TP0129. Despite limitations in the quality of samples affecting broad sequencing coverage, the determined non-clonal character of the isolates suggests a persistent infection in the Cuban population rather than a single outbreak caused by imported case.

scholarly journals A Novel Test System for Genotyping rs43703016 Single-nucleotide Substitutions in the Bovine CSN3 Gene

2019 ◽  
pp. 1-5
Author(s):  
Svetlana Kovalchuk ◽  
Arina Tagmazyan ◽  
Eugene Klimov
Keyword(s):  
Nucleotide Substitution ◽  
Milk Proteins ◽  
Test System ◽  
Nucleotide Polymorphisms ◽  
Dna Testing ◽  
Nucleotide Substitutions ◽  
Single Nucleotide ◽  
Allele Specific ◽  
Selection Of

Aims: Caseins are among the main milk proteins that determine many of its properties. Bovine kappa-casein (CSN3) is associated with the qualitative composition of milk, as well as with the quality of cheese obtained from this milk. The rs43703016 single-nucleotide substitution (g.88532332A>C; Asp148Ala) in exon 4 of the bovine CSN3 gene plays an important role in the production of quality hard cheeses. Various methods for the DNA testing of this substitution have been developed in the last three decades. Emergent DNA technologies provide an opportunity to modernize methods of genotyping single-nucleotide polymorphisms. Results: We have developed and verified a method to differentiate A/C alleles of the rs43703016 substitution in the bovine CSN3 gene by real-time PCR using allele-specific fluorescent probes. Conclusion: Our new method allows fast genotyping of animals, and may be used for selection of cows carrying the CC genotype, which determines good cheese-making properties of milk.

scholarly journals Effects of genetic variation in the 20th intron of Sansui duck ATP2A2 gene on eggshell quality

2021 ◽  
Vol 3 (2) ◽  
Author(s):  
Junhan Mei ◽  
Yiyu Zhang ◽  
Minfang You ◽  
Chaomei Liao ◽  
Guanghui Tan ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Strong Linkage Disequilibrium ◽  
Strong Linkage ◽  
Weinberg Equilibrium ◽  
Atp2a2 Gene ◽  
Eggshell Quality ◽  
Hardy Weinberg Equilibrium ◽  
Intron Region ◽  
The Relationship

In order to explore the influence of the polymorphism in the 20 intron region of the Sansui duck ATP2A2 gene on the eggshell quality, this study used Primer Premier 5 software to design and synthesize a pair of primers in the 20 intron region, two-way direct sequencing and sequence alignment to mine SNPs Sites, SPSS 18.0 software was used to analyze the relationship between SNP sites and eggshell quality of Sansui duck. Results Three SNP sites were found in the 20 intron region of the ATP2A2 gene: g.40874 T>C, g.40920 G>A and g.40990 T=C, all of which were moderately polymorphic, at the site g.40874 T ＞C and g.40920 G＞A both deviated significantly from Hardy-Weinberg equilibrium (P>0.05), position g.40990 T=C accords with Hardy-Weinberg equilibrium (P<0.05), and position g.40874 T＞C There is a strong linkage disequilibrium between g.40990 T=C; a total of 4 haplotypes and 9 double types were detected at 3 SNP loci; the results of association analysis show that g.40874 T＞C mutation has an effect on eggshell strength The eggshell strength of CC genotype was significantly higher than that of TC and TT genotypes (P<0.05), and the eggshell weight of CC genotype was significantly higher than that of TC genotype (P<0.05), g. The 40990 T=C mutation has a significant effect on the eggshell strength, and the eggshell strength of the TC genotype is significantly higher than that of the TT genotype (P<0.05). In summary, the g.40874 T>C and g.40990 T=C found in the 20th intron region of the Sansui duck ATP2A2 gene may be the marker sites that affect the quality of the eggshell.

Congenital Syphilis in Honiara, Solomon Islands

2020 ◽  
Vol 66 (6) ◽  
pp. 583-588
Author(s):  
Maxson Lifigao ◽  
Titus Nasi ◽  
Carol Titiulu ◽  
Steven Lumasa ◽  
Trevor Duke
Keyword(s):  
Congenital Syphilis ◽  
Solomon Islands ◽  
Venereal Disease ◽  
Treponema Pallidum ◽  
Clinical Signs ◽  
Syphilis Infection ◽  
Middle Income ◽  
Middle Income Countries ◽  
Neurodevelopmental Problems

Abstract Introduction Congenital syphilis remains a significant cause of newborn mortality and long-term neurodevelopmental problems in some low- and middle-income countries. This study was done in Honiara, Solomon Islands to determine the incidence of babies born to mothers with a positive venereal disease research laboratory (VDRL) test and a positive Treponema pallidum haemagglutination assay (TPHA); to determine the VDRL status of newborns and features of congenital syphilis; and to estimate the proportion of stillbirths associated with syphilis. Methodology All neonates born to VDRL-positive mothers, including stillbirths were included between April and July 2019. Neonates were examined, investigated and treated. Results Among 1534 consecutive births, 1469 were live births and 65 (4.2%) were stillbirths. One hundred and forty-three neonates were born to VDRL-positive mothers: 130 (90.1%) were live infants and 13 (8.9%) stillbirths. Of the 130 VDRL-exposed live-born infants, 72 (55%) had reactive VDRL and a positive TPHA and 7 (9.7%) had clinical signs of congenital syphilis. Five of the infants with clinical signs of syphilis infection had a 4-fold higher VDRL titre than their mother. Four infants of VDRL-positive mothers died during admission, all of whom had clinical signs of syphilis. Ninety percent of affected infants were born to mothers who were not treated or only partially treated during pregnancy. Conclusions In this study, 1:210 live-born babies had clinical and serological evidence of congenital syphilis, and evidence of Treponema infection was found disproportionately in stillbirths. In a setting where Treponema infections are common, an empirical approach to prevention may be needed.

scholarly journals Prevalence and Incidence of Syphilis among Volunteer Blood Donors in Israel

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Leibovici Vera ◽  
Donchin Milka ◽  
Strauss-Liviatan Nurith ◽  
Shinar Eilat
Keyword(s):  
Blood Donors ◽  
Venereal Disease ◽  
Treponema Pallidum ◽  
Stepwise Logistic Regression ◽  
Recent Infection ◽  
Global Migration ◽  
Antibody Absorption ◽  
Populations At Risk ◽  
Stepwise Logistic Regression Model ◽  
And Behavior

Data of 1,290,222 volunteer blood donors, in a 5-year period, was analyzed for prevalence and incidence of syphilis. Subsequent testing of donations positive in Treponema pallidum hemagglutination assay included Venereal Disease Research Laboratory and fluorescent Treponemal antibody absorption. Stepwise logistic regression model was used to identify positive syphilis serology. Prevalence of syphilis was 47 : 100,000, similar in men and women and increased significantly with age (P<0.001). Native Israelis had the lowest prevalence rate of syphilis (21 : 100,000), while a significantly higher prevalence was found among immigrants from Africa, Eastern Europe, and South America (odds ratios of 19.0, 10.8, and 7.3, resp., P<0.001 for each). About 33.2% of the seropositive donors had evidence of recent infection, and 66.8% had past infections. Incidence rate reached 8 : 100,000 person-years. Coinfection with HIV, HCV, and HBV was calculated as 8%, 1.88%, and 0.37% for positive donations, respectively. The data support the need to continue screening blood donors in Israel for syphilis and employ preventive measures to populations at risk, in order to improve public health, blood safety, and quality. A subsequent study to assess blood donors’ knowledge, attitude, and behavior is planned. In times of global migration this information may be useful to blood services worldwide.

scholarly journals Cerebrospinal fluid examination may be useful in diagnosing neurosyphilis in asymptomatic HIV+ patients with syphilis

2016 ◽  
Vol 74 (2) ◽  
pp. 128-132 ◽  
Author(s):  
Ronald Salamano ◽  
Raquel Ballesté ◽  
Abayubá Perna ◽  
Natalia Rodriguez ◽  
Diego Lombardo ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Venereal Disease ◽  
Treponema Pallidum ◽  
Hiv Patients ◽  
Hemagglutination Assay ◽  
Protein Levels ◽  
Disease Research ◽  
Csf Analysis ◽  
High Degree ◽  
Asymptomatic Hiv

ABSTRACT Lumbar puncture in neurologically asymptomatic HIV+ patients is still under debate. There are different criteria for detecting neurosyphilis through cerebrospinal fluid (CSF), especially in cases that are negative through the Venereal Disease Research Laboratory (VDRL), regarding cellularity and protein content. However, a diagnosis of neurosyphilis can still exist despite negative VDRL. Treponema pallidum hemagglutination assay (TPHA) titers and application of the TPHA index in albumin and IgG improve the sensitivity, with a high degree of specificity. Thirty-two patients were selected for this study. VDRL was positive in five of them. The number of diagnoses reached 14 when the other techniques were added. It was not determined whether cellularity and increased protein levels were auxiliary tools in the diagnosis. According to our investigation, CSF analysis using the abovementioned techniques may be useful in diagnosing neurosyphilis in these patients.

Atypical development of neurosyphilis mimicking limbic encephalitis

2018 ◽  
Vol 30 (2) ◽  
pp. 194-197 ◽  
Author(s):  
Karine Beiruti ◽  
Anan Abu Awad ◽  
Galina Keigler ◽  
Chen Hanna Ryder ◽  
Radi Shahien
Keyword(s):  
Limbic Encephalitis ◽  
Venereal Disease ◽  
Treponema Pallidum ◽  
Penicillin G ◽  
Acute Confusional State ◽  
Gradual Improvement ◽  
Atypical Clinical Presentation ◽  
Magnetic Resonance Imaging Mri ◽  
Atypical Development ◽  
Simplex Virus

A previously healthy 35-year-old man suffering from behavioral and mental deterioration for three months was referred to our facility. On admission, the patient was dysphasic and had tonic-clonic seizures. Neurological examination showed mental confusion, euphoric mood, mania, paranoia, and mild motor dysphasia. Magnetic resonance imaging (MRI) was performed twice but no abnormalities were revealed. His acute confusional state, elevated cerebrospinal fluid (CSF) protein, epileptic seizure and electroencephalogram showing intermittent frontal slowness were all suggestive of encephalitis. The patient was treated with acyclovir without significant improvement in his condition. Testing for herpes simplex virus and human immunodeficiency virus was negative. Limbic encephalitis was suspected and the patient was treated with intravenous immunoglobulin (IVIG) for five days. Venereal disease research laboratory and Treponema pallidum hemagglutination assay were both tested positive in serum and CSF. Neurosyphilis was diagnosed, and the patient received a 14-day course of penicillin G with gradual improvement. Anti-N-methyl-D-aspartate-receptor (anti-NMDAR) antibodies were positive in serum, confirming the presence of encephalitis. The atypical clinical presentation of neurosyphilis with symptomatology mimicking encephalitis and no MRI abnormalities made the diagnosis challenging. Coexistence of neurosyphilis with anti-NMDAR encephalitis has been reported only in one recent study. Our case demonstrates the importance of testing for syphilis in patients with unexplained neurologic deficits and suspected encephalitis.

scholarly journals The Wassermann and Luetin Reactions in Leprosy

1915 ◽  
Vol 15 (1) ◽  
pp. 102-126 ◽  
Author(s):  
William Fletcher
Keyword(s):  
Average Duration ◽  
Venereal Disease ◽  
Treponema Pallidum ◽  
Control Group ◽  
Advanced Stage ◽  
Negative Results ◽  
Dark Ground ◽  
Wassermann Reaction ◽  
Positive Results

1. One hundred lepers were examined by Browning, Cruickshank and McKenzie's modification of the Wassermann reaction with positive results in 22 cases. The amount of complement deviated was in some cases exceptionally large.2. In a control group of 110 non-leprous persons there were 11 positive reactions.3. In only one of the lepers was there visible evidence of former venereal disease but 33 of the lepers admitted that they had suffered from syphilis or from chancres, and of these 33, 13 reacted positively, while only nine of the remaining 66 gave positive reactions.4. In the control group, 21 admitted former syphilitic infection and, of these, eight reacted positively; among the remaining 89, who denied syphilis, there were three positive reactions.5. There were 12 positive reactions among 44 cases of tubercular leprosy and 10 positive reactions among 56 cases of the anaesthetic type.6. The average duration of the disease, among the 22 lepers who reacted positively, was four years and eight months, as compared with an average of three years and eight months for the 78 patients who reacted negatively; but among the latter there were many old-standing cases.7. Seventeen of the 22 positive cases were in an advanced stage of leprosy and in some of them the disease was progressing; but among those lepers who reacted negatively there were also many advanced and progressing cases.8. Serum from the lesions in 10 of the lepers who reacted positively was examined by dark-ground illumination, but in no case was the Treponema pallidum found.9. The luetin test was applied to 21 lepers, with negative results in every instance; 13 of these cases gave positive and eight gave negative Wassermann reactions. The test was also applied to a control group of non-leprous persons selected because they were likely to be latent syphilitics. In this group there were 11 positive luetin reactions.

The Molecular Typing Data of Recently Identified Subtype 11q/j of Treponema pallidum subsp. pallidum Suggest Imported Case of Yaws

2014 ◽  
Vol 41 (9) ◽  
pp. 552-553 ◽  
Author(s):  
Lenka Mikalová ◽  
Michal Strouhal ◽  
Linda Grillová ◽  
David Šmajs
Keyword(s):  
Molecular Typing ◽  
Treponema Pallidum ◽  
Imported Case

Biological false-positive tests comprise a high proportion of Venereal Disease Research Laboratory reactions in an analysis of 300,000 sera

2005 ◽  
Vol 16 (11) ◽  
pp. 722-726 ◽  
Author(s):  
Alexandra Geusau ◽  
Harald Kittler ◽  
Ulrike Hein ◽  
Edda Dangl-Erlach ◽  
Georg Stingl ◽  
...  
Keyword(s):  
Retrospective Study ◽  
False Positive ◽  
Research Laboratory ◽  
Venereal Disease ◽  
Treponema Pallidum ◽  
Venereal Disease Research Laboratory ◽  
Transmitted Infection ◽  
Specific Test ◽  
Disease Research ◽  
Syphilis Screening

This retrospective study on syphilis screening at the sexually transmitted infection (STI) unit of a University Department emphasizes the necessity of a treponemal-specific test as the appropriate screening test. The Venereal Disease Research Laboratory (VDRL) test for syphilis screening may, under certain circumstances, yield positive results in patients not infected with Treponema pallidum, a phenomenon referred to as biological false-positive (BFP) VDRL test. The aim of this study was to determine the frequency of BFP tests in a large sample of sera. In this retrospective study, we analysed the results of parallel VDRL and T. pallidum haemagglutination (TPHA) testing of a total of 514,940 blood samples obtained from patients at the Vienna General Hospital between January 1988 and November 1999. Patients' sera with incomplete data on stage and sex and duplicate sera were excluded, leaving 300,000 sera for analysis. The seroprevalence for syphilis was 1.77% ( n = 5320), as determined by a positive TPHA test. It was significantly higher in male than in female patients (2.03% versus 1.58%, P<0.001). Of the patients reactive in the TPHA test, 3257 (61.2%) were negative in the VDRL. With regard to reactivity in VDRL testing, 2799 patients (0.92%) of the study population were positive, of whom 736 (26%) were biological false positive. BFP reactivity was found in 0.24% of all patients and was significantly higher in women than in men (0.27% versus 0.20%, P<0.001) and in patients over 60 years of age (0.34%) as compared with those under 60 (0.25%, P<0.001). This proportion might be even higher, as reactivity in the VDRL at 1:0 and 1:2 dilutions without a positive treponemal test was not reported. The subgroup of HIV-positive patients ( n = 1415) revealed a 10-fold higher rate of BFP tests (2.1% versus 0.24), an effect being statistically significant. In a low syphilis prevalence population, BFP reactions comprise a high proportion of all VDRL reactors. Therefore, the use of the VDRL as a screening procedure is challenged.

scholarly journals Variation in hemoglobin F production among normal and sickle cell adults is not related to nucleotide substitutions in the gamma promoter regions

Blood ◽  
1991 ◽  
Vol 77 (1) ◽  
pp. 174-177
Author(s):  
EP Economou ◽  
SE Antonarakis ◽  
HH Jr Kazazian ◽  
GR Serjeant ◽  
GJ Dover
Keyword(s):  
Sickle Cell ◽  
Polymerase Chain Reaction Amplification ◽  
Direct Sequencing ◽  
Gene Promoter ◽  
Fetal Hemoglobin ◽  
Globin Genes ◽  
Promoter Regions ◽  
Nucleotide Substitutions ◽  
Hemoglobin F ◽  
Normal Adults

Single nucleotide substitutions in the promoter regions of the A gamma- and G gamma-globin genes have been associated with increased fetal hemoglobin (HbF) production. We wished to determine whether these or other unrecognized substitutions in the gamma promoter regions are responsible for the 20-fold variation in HbF production in sickle cell patients or normal adults. From a random sampling of 250 sickle cell (SS) patients and 125 normal adults, 17 individuals representing the highest and lowest HbF producers were selected for study. All three common restriction fragment length polymorphism beta-globin region haplotypes (Benin, Central African Republic, and Senegal) were found in both the highest and lowest HbF producers with SS disease. Using the polymerase chain reaction amplification and direct sequencing of the amplified DNA product, we examined the promoter regions of both the A gamma and G gamma genes from -350 bp to +50 bp of the CAP site. No mutations were found in either gamma gene promoter region. We conclude that nucleotide substitutions in the promoter regions (-350 to +50 bp) of both gamma genes are not responsible for the marked variation in HbF production among SS or normal individuals.

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