scholarly journals Diagnostic Allele-Specific PCR for the Identification of Candida auris Clades

2021 ◽  
Vol 7 (9) ◽  
pp. 754
Author(s):  
Hans Carolus ◽  
Stef Jacobs ◽  
Celia Lobo Romero ◽  
Quinten Deparis ◽  
Christina A. Cuomo ◽  
...  
Keyword(s):  
Low Income ◽  
Clinical Importance ◽  
Low Income Countries ◽  
Phenotypic Traits ◽  
Specific Gene ◽  
Candida Auris ◽  
Pathogenic Yeast ◽  
Specific Pcr ◽  
Allele Specific ◽  
Opportunistic Pathogenic

Candida auris is an opportunistic pathogenic yeast that emerged worldwide during the past decade. This fungal pathogen poses a significant public health threat due to common multidrug resistance (MDR), alarming hospital outbreaks, and frequent misidentification. Genomic analyses have identified five distinct clades that are linked to five geographic areas of origin and characterized by differences in several phenotypic traits such as virulence and drug resistance. Typing of C. auris strains and the identification of clades can be a powerful tool in molecular epidemiology and might be of clinical importance by estimating outbreak and MDR potential. As C. auris has caused global outbreaks, including in low-income countries, typing C. auris strains quickly and inexpensively is highly valuable. We report five allele-specific polymerase chain reaction (AS-PCR) assays for the identification of C. auris and each of the five described clades of C. auris based on conserved mutations in the internal transcribed spacer (ITS) rDNA region and a clade-specific gene cluster. This PCR method provides a fast, cheap, sequencing-free diagnostic tool for the identification of C. auris, C. auris clades, and potentially, the discovery of new clades.

scholarly journals Use of genetic markers for the detection of off-types for DUS phenotypic traits in the inbreeding crop, barley

2020 ◽  
Vol 40 (1) ◽  
Author(s):  
Benedetta Saccomanno ◽  
Margaret Wallace ◽  
Donal M. O’Sullivan ◽  
James Cockram
Keyword(s):  
Genetic Markers ◽  
Spontaneous Mutation ◽  
Phenotypic Expression ◽  
Phenotypic Traits ◽  
Individual Plant ◽  
Specific Pcr ◽  
Dus Testing ◽  
Allele Specific ◽  
Novel Alleles ◽  
Kasp Markers

AbstractDetection of crop off-types is of interest for multiple uses, including the assessment of uniformity for new plant variety applications during distinctness, uniformity and stability (DUS) testing for the awarding of plant breeders’ rights (PBR). Here, we investigate whether genetic markers, in this case Kompetitive Allele-Specific PCR (KASP), can be used for the identification off-types for phenotypes assessed for DUS in the inbreeding cereal crop, barley (Hordeum vulgare). To demonstrate proof of principle, KASP markers diagnostic for phenotypic expression of nine DUS phenotypes, and DNA from two barley varieties (‘Pelican’ and ‘Felicie’) carrying contrasting alleles at each marker were used. We found that for the majority of markers, it was possible to robustly call alleles down to template DNA concentrations of 2 ng, but not ≤ 0.2 ng. When used in mixtures of DNA consisting of ‘Felicie’ DNA spiked with different concentrations of ‘Pelican’ DNA, robust allele calling was possible in DNA mixtures down to 18 ng:2 ng. Collectively, this demonstrates that where diagnostic markers are available, molecular identification of a single off-type for a given DUS trait within a bulk of ten individuals should be possible. We validated this assumption, with all of the diagnostic genetic markers investigated found to robustly detect DUS off-types at a frequency of 10% in DNA extracted from tissue collected from pools of 10 individuals. Ultimately, this work demonstrates that, where diagnostic polymorphisms are known for DUS traits, KASP markers should be able to robustly detect off-types or cross-contamination within DNA samples from a diploid inbred species down to 10%. While just two varieties that contrasted for the eight DUS targeted were investigated in this study, as the markers used are diagnostic for their relevant phenotype (or a proportion of the variation observed for that phenotype), in theory the approach should be valid for any variety studied—although the introduction of novel alleles via spontaneous mutation or more exotic germplasm pools may mean that marker sets would need to be periodically added to or updated. However, we nevertheless demonstrate the principle that, for a subset of DUS traits, molecular markers can now be robustly used as a tool towards determining all three components of the DUS testing process in barley. These results are relevant for the assessment of varietal uniformity by crop breeders, crop testing authorities and germplasm maintenance, as well as highlighting the potential use of bulk samples rather than individual plant samples for assessment of distinctness by molecular methods.

Simple and Rapid Detection of Factor V Leiden by Allele-specific PCR Amplification

1996 ◽  
Vol 75 (05) ◽  
pp. 757-759 ◽  
Author(s):  
Rainer Blasczyk ◽  
Markus Ritter ◽  
Christian Thiede ◽  
Jenny Wehling ◽  
Günter Hintz ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Pcr Amplification ◽  
Factor V ◽  
Specific Pcr ◽  
Pcr Rflp ◽  
Allele Specific ◽  
Specific Amplification ◽  
Allele Specific Pcr

SummaryResistance to activated protein C is the most common hereditary cause for thrombosis and significantly linked to factor V Leiden. In this study, primers were designed to identify the factor V mutation by allele-specific PCR amplification. 126 patients with thromboembolic events were analysed using this technique, PCR-RFLP and direct sequencing. The concordance between these techniques was 100%. In 27 patients a heterozygous factor VGln506 mutation was detected, whereas one patient with recurrent thromboembolism was homozygous for the point mutation. Due to its time- and cost-saving features allele-specific amplification should be considered for screening of factor VGln506.

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

Reviewing the Development of Rural Finance in Vietnam

2013 ◽  
pp. 121-136
Author(s):  
Duong Pham Bao
Keyword(s):  
Low Income ◽  
Financial System ◽  
Low Income Countries ◽  
Supply Side ◽  
New Paradigm ◽  
Rural Finance ◽  
Market Mechanisms ◽  
Rural Credit ◽  
Rural Organizations ◽  
Doi Moi

The objective of this article is to review the development of the rural financial system in Vietnam in recent years, especially, after Doi moi. There are two opposite schools of thought in the literature on rural credit policies in developing countries. One is the conventional supply-side (government-led) approach while the other is called “a new paradigm” that emphasizes the importance of the viability of financial providers and the well functioning of rural credit markets. Conventional theories of rural finance contend that rural finance in low-income countries is generally accompanied by many failures. Contrary to these theories, rural finance in Vietnam does not encounter the above-mentioned failures so far. Up to the present time, it is progressing well. Using a supply-side approach, methodologically, this study reviews the development of the rural financial system in Vietnam. The significance of this study is to challenge the extreme view of dichotomizing between the old and the new credit paradigms. Analysis in this study contends that a rural financial market that, (1) is initiated and spurred by government; (2) operates principally under market mechanisms; and (3) is strongly supported by rural organizations (semi-formal/informal institutions) can progress stably and well. Therefore, the extremely dichotomizing approach must be avoided.

Abdominal Textiloma Mimicking as Left Colic Tumour: A Postoperative Complication Still Common in Low-Income Countries

EMJ Radiology ◽  
2020 ◽  
Keyword(s):  
Low Income ◽  
Early Stage ◽  
Low Income Countries ◽  
Fistula Formation ◽  
Emergency Laparotomy ◽  
Intermittent Fever ◽  
Gastrointestinal Complications ◽  
Surgical Safety ◽  
Surgical Teams ◽  
Safety Rules

Retained foreign bodies have become very rare in countries where the safety rules in the operating theatre are very rigorous and follow precise guidelines. There are low-income countries where hospital structures are precarious, in which the implementation of surgical safety rules has only been effective recently. Surgical teams in these countries are not yet well trained in the observance of the guidelines concerning swab count, meaning that textilomas are not uncommon. Abdominal textiloma may be asymptomatic, or present serious gastrointestinal complications such as bowel obstruction, perforation, or fistula formation because of misdiagnosis. It may mimic abscess formation in the early stage or soft tissue masses in the chronic stage. This case report presents a 27-year-old female who underwent an emergency laparotomy in a rural surgical centre for an ectopic pregnancy. Two months later, a swelling had appeared on the left side of her abdomen, gradually increasing in size, which was not very painful but caused digestive discomfort and asthenia. Intermittent fever was described and treated with antibiotics. The patient was referred to a better equipped centre to benefit from a CT scan. A textiloma was strongly suspected on the CT but a left colic mass was not excluded. Laparotomy confirmed the diagnosis of textiloma and the postoperative course was uneventful. Prevention rules must be strengthened in these countries where patients can hardly bear the costs of iterative surgeries for complications that are avoidable.

Assessment of knowledge and practice of vaccination of dogs against rabies by dog owners in Makurdi, Benue State, Nigeria

2020 ◽  
Vol 1 ◽  
pp. 5
Author(s):  
Audu Onyemocho ◽  
Agwa Moses ◽  
Aboh Kisani ◽  
Omole Namben Victoria ◽  
Anejo-Okopi Joseph
Keyword(s):  
Low Income ◽  
Life Time ◽  
Knowledge Score ◽  
Educational Status ◽  
Low Income Countries ◽  
Bivariate Analysis ◽  
Cross Sectional ◽  
Knowledge And Practice ◽  
Dog Owners ◽  
The Relationship

Objective: Rabies, one of the oldest and fatal infectious diseases known to human race, is transmitted by infected dogs. The global target of zero dog-mediated rabies human deaths has been set for 2030; however, the realization of this goal poses challenges in most low-income countries where rabies is endemic due to weak surveillance. Dogs have been increasingly deployed for domestic uses over the years, especially for security purposes. This study assessed the assessment of knowledge and practice of vaccination of dogs against rabies by dog owners. Materials and Methods: A cross-sectional community-based study was employed to study 400 dog owners in Makurdi metropolis through multistage sampling techniques. Sighting of valid dog vaccination card was used as criteria for current vaccination. Bivariate analysis was carried out to establish the relationship between the respondent knowledge of rabies and dog vaccination with significant value set at P < 0.05. Results: The mean age of the respondents was 31 (Â ± 0.8) years, majority of them had tertiary and secondary education (40.0% and 39.0%, respectively), 26.0% were traders, and 50.0% were married. Overall, 73.0% of the respondents had good knowledge score, 61.0% had seen at least a rabid dog in their life time, and 74.0% have a history of dog vaccination, but evidence of up to date vaccination of dogs by owners was seen in only 18.0% of all the vaccination cards sighted. The relationship between the educational status of the respondents, their knowledge score, and their dog vaccination was statistically significant (P < 0.05). Conclusion: Knowledge of rabies among dog owners in Makurdi was good, but the practice of dog vaccination was poor. Educational status was a good predictor of practice. Awareness campaign on dog vaccination should be strengthened and adequate measures should be put in place at the veterinary hospitals in Makurdi for vaccination of dogs.

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