Forensic Identification—An Overview on Molecular Diagnostic Technology

2016 ◽  
Vol 48 (6) ◽  
pp. 1764-1778 ◽  
Author(s):  
Antoni Torres ◽  
Nelson Lee ◽  
Catia Cilloniz ◽  
Jordi Vila ◽  
Menno Van der Eerden

Pneumonia remains a worldwide health problem with a high rate of morbidity and mortality. Identification of microbial pathogens which cause pneumonia is an important area for optimum clinical management of pneumonia patients and is a big challenge for conventional microbiological methods. The development and implementation of molecular diagnostic tests for pneumonia has been a major advance in the microbiological diagnosis of respiratory pathogens in recent years. However, with new knowledge regarding the microbiome, together with the recognition that the lungs are a dynamic microbiological ecosystem, our current concept of pneumonia is not totally realistic as this new concept of pneumonia involves a dysbiosis or alteration of the lung microbiome. A new challenge for microbiologists and clinicians has therefore arisen. There is much to learn regarding the information provided by this new diagnostic technology, which will lead to improvements in the time to antibiotic therapy, targeted antibiotic selection and more effective de-escalation and improved stewardship for pneumonia patients. This article provides an overview of current methods of laboratory diagnosis of pneumonia in the molecular age.


2017 ◽  
Vol 4 (suppl_1) ◽  
pp. S33-S33
Author(s):  
Stephen Freedman ◽  
Alberto Nettel-Aguirre ◽  
Jianling Xie ◽  
Bonita Lee ◽  
Linda Chui ◽  
...  

Abstract Background Diarrheal stool samples are currently preferred for enteropathogen detection, but they are inconvenient to collect if they are not immediately available, leading to suboptimal return rates and delayed or missed diagnostic opportunities. We sought to compare the enteropathogen yields of rectal swabs and stool specimens in an outpatient cohort of children with diarrhea and/or vomiting. Methods Eligible children were < 18 years of age, with ≥3 episodes of vomiting or diarrhea in 24 hours and <7 days of symptoms. After excluding those enrolled within the prior fortnight, unable to follow-up, having psychiatric illness, neutropenia, or requiring emergent care, we attempted to collect rectal swabs and stool from all participants. Specimens were subjected to testing with the Luminex xTAG Gastrointestinal Pathogen Panel, an in-house 5-virus panel and bacterial culture. Primary outcomes were comparative (submitted paired specimens only) and overall (all specimens, unsubmitted specimens analyzed as negative) yields. We used McNemar’s test to conduct pathogen-specific analyses, and generalized estimating equations to perform global (i.e., any) pathogen analyses with adjustments made for the presence of diarrhea, location, and their interactions with specimen type. Results Of the 1,519 subjects enrolled, 1,147 (75·5%) and 1,514 (99·7%) provided stool and swab specimens, respectively. The proportions of specimens positive for any pathogen were 75.9% (871/1,147) and 67.6% (1,024/1,514); P < 0.0001. Comparative yield adjusted OR in stool relative to swabs were 1.24 (95% CI: 1.11, 1.38) and 1.76 (95% CI: 1.47, 2.11) in children with and without diarrhea at presentation, respectively. Overall concordance analysis yielded a kappa of 0.76 (95% CI: 0.71, 0.80). Paired positive viral specimens had lower median cycle threshold values (i.e., higher viral loads; P < 0·0001) in SSs compared with swabs for all viruses. In overall yield analysis, the proportions positive for a pathogen were 57.3% and 67.4 for stool and rectal swabs, respectively; unadjusted OR: 0.65 (95% CI: 0.59, 0.72) for stool relative to swab. Conclusion Rectal swabs should be performed when enteropathogen identification, and/or rapid detection, is needed, molecular diagnostic technology available, and stool not immediately available. Disclosures All authors: No reported disclosures.


2017 ◽  
Vol 56 (3) ◽  
pp. 289-294
Author(s):  
Yonggyun Kim ◽  
Minhyun Kim ◽  
Kyusoon Kim ◽  
Mohammad Vatanparast ◽  
Yejin Kim ◽  
...  

2020 ◽  
Vol 1134 ◽  
pp. 144-149
Author(s):  
Yao Yin ◽  
Zuoci Wu ◽  
Guangping Li ◽  
Jin Huang ◽  
Qiuping Guo ◽  
...  

2011 ◽  
Vol 29 (1) ◽  
pp. 27-54 ◽  
Author(s):  
Emma L. Kurnat-Thoma

Scientific advances in genetics and genomics will be incorporated into health care soon. The tailoring of treatment to an individual's genetic make up has been termed Personalized Medicine. These advances are promising and are receiving significant attention; however, many nurses are caught in the gap between technologic advances and clinical diffusion and uptake. Aiming to reduce this gap, this chapter provides an overview of the science driving Personalized Medicine, outlines areas of research and clinical translation where nurses may expect to see its fruits, and briefly identifies obstacles preventing its full realization. Four scientific elements of Personalized Medicine are described: (1) discovery of novel biology that guides clinical translation mechanisms, (2) genetic risk assessment, (3) molecular diagnostic technology, and (4) pharmacogenetics and pharmacogenomics. Successful design and implementation of Personalized Medicine will hinge on the roles of nurses conducting or participating in collaborative initiatives that are furthering genetic/genomic applications within these contexts.


Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1261
Author(s):  
Chu-Hsuan Huang ◽  
Chung-May Yang ◽  
Chang-Hao Yang ◽  
Yu-Chih Hou ◽  
Ta-Ching Chen

Leber’s congenital amaurosis (LCA), one of the most severe inherited retinal dystrophies, is typically associated with extremely early onset of visual loss, nystagmus, and amaurotic pupils, and is responsible for 20% of childhood blindness. With advances in molecular diagnostic technology, the knowledge about the genetic background of LCA has expanded widely, while disease-causing variants have been identified in 38 genes. Different pathogenetic mechanisms have been found among these varieties of genetic mutations, all of which result in the dysfunction or absence of their encoded proteins participating in the visual cycle. Hence, the clinical phenotypes also exhibit extensive heterogenicity, including the course of visual impairment, involvement of the macular area, alteration in retinal structure, and residual function of the diseased photoreceptor. By reviewing the clinical course, fundoscopic images, optical coherent tomography examination, and electroretinogram, genotype-phenotype correlations could be established for common genetic mutations in LCA, which would benefit the timing of the diagnosis and thus promote early intervention. Gene therapy is promising in the management of LCA, while several clinical trials are ongoing and preliminary success has been announced, focusing on RPE65 and other common disease-causing genes. This review provides an update on the genetics, clinical examination findings, and genotype-phenotype correlations in the most well-established causative genetic mutations of LCA.


2019 ◽  
Vol 24 (4) ◽  
pp. 405-419 ◽  
Author(s):  
Tatiana Globus ◽  
Christopher Moskaluk ◽  
Patcharin Pramoonjago ◽  
Boris Gelmont ◽  
Aaron Moyer ◽  
...  

Author(s):  
Brian D Mariani ◽  
Daniel S Martin ◽  
Antonia F Chen ◽  
Haruyo Yagi ◽  
Sheldon S Lin ◽  
...  

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