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Molecular Diagnostics and Personalized Therapy
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Molecular Diagnostics and Personalized Therapy

A special issue of Medical Sciences (ISSN 2076-3271).

Deadline for manuscript submissions: closed (30 September 2020) | Viewed by 13197

Special Issue Editor

Dr. Fatima Saleh

E-Mail Website
Guest Editor
Department of Medical Laboratory Technology; Medical Laboratory Technology Department, Faculty of Health Sciences, Beirut Arab University, Beirut 11-5020, Lebanon
Interests: personalized therapy; phytotherapy; regenerative medicine and stem cells

Special Issue Information

Dear Colleagues,

Recent advances in molecular diagnostics are beginning to shift from basic research to clinical application. Early detection along with the understanding of the molecular predispositions to complex and rare diseases could potentially increase the likelihood of survival, decrease morbidity, and reduce the costs of health care. Furthermore, molecular diagnostics is enabling the development of personalized treatment strategies for maximum effectiveness, making the identification of predictive biomarkers mandatory to improve the efficiency of targeted therapies. This is coming true with the emergence of next-generation sequencing in a more affordable price. The aim of this Special Issue is to provide deep insights into recent advances made in molecular diagnostics to better understand the predisposition, etiology, and personalized treatment of this complex and rare disease.

Dr. Fatima Saleh
Guest Editor

Manuscript Submission Information

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Keywords

  • molecular diagnosis
  • personalized treatment
  • next-generation sequencing
  • sanger sequencing
  • genotyping
  • complex and rare diseases
  • gene–drug interactions

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Published Papers (3 papers)

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Research

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10 pages, 251 KiB  
Article
Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern Lebanon
by Ali El Roz, Ghassan Ghssein, Batoul Khalaf, Taher Fardoun and José-Noel Ibrahim
Med. Sci. 2020, 8(3), 35; https://doi.org/10.3390/medsci8030035 - 17 Aug 2020
Cited by 15 | Viewed by 3310
Abstract
Background: Familial Mediterranean Fever (FMF) is an autosomal recessive auto-inflammatory disease characterized by pathogenic variants in the MEFV gene, with allele frequencies greatly varying between countries, populations and ethnic groups. Materials and methods: In order to analyze the spectrum of MEFV variants and [...] Read more.
Background: Familial Mediterranean Fever (FMF) is an autosomal recessive auto-inflammatory disease characterized by pathogenic variants in the MEFV gene, with allele frequencies greatly varying between countries, populations and ethnic groups. Materials and methods: In order to analyze the spectrum of MEFV variants and genotypes among clinically diagnosed FMF patients from South Lebanon, data were collected from 332 participants and 23 MEFV variants were screened using a Real-Time PCR Kit. Results: The mean age at symptom onset was 17.31 ± 13.82 years. The most prevalent symptoms were abdominal pain, fever and myalgia. MEFV molecular analysis showed that 111 patients (63.79%) were heterozygous, 16 (9.20%) were homozygous, and 47 (27.01%) carried two variants or more. E148Q was the most encountered variant among heterozygous subjects. E148Q/M694V was the most frequent in the compound heterozygous/complex genotype group, while M694I was the most common among homozygous patients. Regarding allele frequencies, M694V was the most common variant (20.7%), followed by E148Q (17.1%), V726A (15.7%) and M694I (13.2%). Conclusion: The high percentage of heterozygous patients clinically diagnosed as FMF highlights the pseudo-dominant transmission of the disease in Lebanon and emphasizes the importance of molecular testing for a more accurate diagnosis and better management and treatment of FMF. Full article
(This article belongs to the Special Issue Molecular Diagnostics and Personalized Therapy)
11 pages, 514 KiB  
Article
Antimicrobial Susceptibilities and Laboratory Profiles of Escherichia coli, Klebsiella pneumoniae, and Proteus mirabilis Isolates as Agents of Urinary Tract Infection in Lebanon: Paving the Way for Better Diagnostics
by Elie S. Sokhn, Ali Salami, Ali El Roz, Lamis Salloum, Hisham F. Bahmad and Ghassan Ghssein
Med. Sci. 2020, 8(3), 32; https://doi.org/10.3390/medsci8030032 - 13 Aug 2020
Cited by 35 | Viewed by 4960
Abstract
Background: Urinary tract infections (UTIs) are major healthcare problems that are usually treated empirically. However, antimicrobial resistance has been increasing across many settings. This study aims to elucidate the antibiotic resistance profiles of three common uropathogens, Escherichia coli (E. coli), Klebsiella [...] Read more.
Background: Urinary tract infections (UTIs) are major healthcare problems that are usually treated empirically. However, antimicrobial resistance has been increasing across many settings. This study aims to elucidate the antibiotic resistance profiles of three common uropathogens, Escherichia coli (E. coli), Klebsiella pneumoniae (K. pneumoniae), and Proteus mirabilis (P. mirabilis) and compare between extended spectrum beta-lactamase (ESBL) and non-ESBL strains among Lebanese patients. Methods: This retrospective study was conducted at multiple tertiary healthcare centers in South Lebanon, between January and September 2017, including 551 patients of all age groups. Demographic, clinical, and laboratory data of patients were collected and analyzed statistically. Results: The prevalence of UTI in Lebanon was highest in adults between 19 and 64 years (44%). E. coli was the predominant uropathogenic organism (67.1%) followed by K. pneumoniae (10%) and P. mirabilis (3.7%). ESBL represented 32.9% of the UTI agents. The three common uropathogens studied were found to be most susceptible to imipenem (100%) and meropenem (100%). Interestingly, 115 (25.1%) out of the 458 E. coli isolates were resistant to more than eight antibiotics while 107 (23.4%) were susceptible to all antibiotics studied. Conclusions: Our study underlined the importance of adequate antimicrobial prescription for UTIs in Lebanon to avoid multidrug resistance. Full article
(This article belongs to the Special Issue Molecular Diagnostics and Personalized Therapy)
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7 pages, 575 KiB  
Perspective
COVID-19: Test, Test and Test
by Fatima A Saleh and Aleen Sleem
Med. Sci. 2021, 9(1), 1; https://doi.org/10.3390/medsci9010001 - 30 Dec 2020
Cited by 4 | Viewed by 4057
Abstract
A new virus was identified in late December 2019 when China reported the first cases of pneumonia in Wuhan, and a global COVID-19 pandemic followed. The world was not late to respond, with a number of sweeping measures ranging from social distancing protocols, [...] Read more.
A new virus was identified in late December 2019 when China reported the first cases of pneumonia in Wuhan, and a global COVID-19 pandemic followed. The world was not late to respond, with a number of sweeping measures ranging from social distancing protocols, stringent hygienic practices, and nation-wide lockdowns, as well as COVID-19 testing campaigns in an attempt to prevent the transmission of the disease and contain the pandemic. Currently, different types of diagnostic testing have been adopted globally, such as nucleic acid detection tests, immunological tests and imaging approaches; however, real-time reverse transcriptase–polymerase chain reaction (RT-PCR) remains the “gold standard” for detection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Pre-analytical factors, such as specimen selection and collection, are crucial for RT-PCR, and any suboptimal collection may contribute to false-negative results. Herein, we address some of the specimen types that have been used in molecular detection methods for COVID-19. However, the pandemic is still evolving, and information might change as more studies are conducted. Full article
(This article belongs to the Special Issue Molecular Diagnostics and Personalized Therapy)
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