genetic detection
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BMC Genomics ◽  
2022 ◽  
Vol 23 (1) ◽  
Author(s):  
Sixian Chen ◽  
Aizhen Fu ◽  
Yuan Lu ◽  
Wei Lu ◽  
Yongfeng Chen ◽  
...  

Abstract Background Lung carcinoma is a common geriatric disease. The development of genotype-targeted therapies greatly improved the management of lung carcinoma. However, the treatment for old patients can be more complex than that for young individuals. Results To investigate the benefits of genetic detection for older patients with lung carcinoma, we explored the genomic profiling of 258 patients with more than 55 years using a targeted next generation sequencing, and some of these patients were treated with targeted therapies based on the results of genomic detection. KRAS codon 61 mutations were found in 15.2% KRAS-mutated patients, which tend to be co-existing with other classical activating mutations other than codons 12/13. Acquired EGFR C797S mutations were identified in 2 cases and ERBB2 amplification was identified in 1 case. All these 3 cases developed resistance to EGFR tyrosine kinase inhibitors and showed expected results of their followed therapies. The median progression-free survival and median overall survival of patients treated with molecular targeted therapies were better than those of patients treated with chemoradiotherapy alone. Conclusions Our findings revealed the specific genomic profiles of patients older than 55 years with lung carcinoma and suggested that these old patients have been benefit from the genetic detection, which helped identify druggable mutations and distinguish resistance mechanisms.


Antibiotics ◽  
2021 ◽  
Vol 10 (11) ◽  
pp. 1342
Author(s):  
Ahmed M. Ammar ◽  
Marwa I. Abd El-Hamid ◽  
Rania M. S. El-Malt ◽  
Doaa S. Azab ◽  
Sarah Albogami ◽  
...  

In recent times, resistant foodborne pathogens, especially of the Campylobacter species, have created several global crises. These crises have been compounded due to the evolution of multidrug-resistant (MDR) bacterial pathogens and the emergence of extensively drug-resistant (XDR) and pan-drug-resistant (PDR) strains. Therefore, this study aimed to investigate the development of resistance and the existence of both XDR and PDR among Campylobacter isolates. Moreover, we explored the use of the polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) technique for the detection of fluoroquinolone (FQ)-resistant Campylobacter isolates. A total of 120 Campylobacter isolates were identified depending on both phenotypic and genotypic methods. Of note, cefoxitin and imipenem were the most effective drugs against the investigated Campylobacter isolates. Interestingly, the majority of our isolates (75%) were MDR. Unfortunately, both XDR and PDR isolates were detected in our study with prevalence rates of 20.8% and 4.2%, respectively. All FQ-resistant isolates with ciprofloxacin minimum inhibitory concentrations ≥4 µg/mL were confirmed by the genetic detection of gyrA chromosomal mutation via substitution of threonine at position 86 to isoleucine (Thr-86-to-Ile) using the PCR-RFLP technique. Herein, PCR-RFLP was a more practical and less expensive method used for the detection of FQ resistant isolates. In conclusion, we introduced a fast genetic method for the identification of FQ-resistant isolates to avoid treatment failure through the proper description of antimicrobials.


2021 ◽  
pp. e01010
Author(s):  
Ismail Thoya Ngoka ◽  
Kevin Mbogo ◽  
Martina Kyallo ◽  
David Obiero Oduori ◽  
Roger Pelle

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Abdelazeem M. Algammal ◽  
Hany R. Hashem ◽  
Amenah S. Al-otaibi ◽  
Khyreyah J. Alfifi ◽  
Esraa M. El-dawody ◽  
...  

Abstract Background Avian tuberculosis is a chronic and zoonotic disease that affects a wide variety of birds, mammals, and humans. This study aimed to estimate the frequency of Mycobacterium avium subsp. avium in some domestic birds based on molecular diagnosis, antibiogram profile, and PCR-based detection of inhA, rpoB, rpsL, and otrB antibiotic resistance-related genes. Methods A total of 120 fecal samples were collected from small flocks of house-reared domestic birds at Ismailia Governorate, Egypt. The collected samples were processed and subjected to the bacteriological examination. The antimicrobial susceptibility testing of the recovered isolates was performed using the broth microdilution method for the detection of minimum inhibitory concentrations (MICs). The genetic detection of the IS901confirmatory gene, inhA, rpoB, rpsL, and otrB genes was carried out using PCR. Results The frequency of M. avium subsp. avium was 4.1% (5/120); 10% (4/40) in ducks, and 2.5% (1/10) in geese. The identification of the recovered isolates was confirmed using PCR, where all the tested isolates were positive for IS901confirmatory gene. The results of the broth microdilution method revealed that most of the recovered isolates exhibited multidrug resistance (MDR) to isoniazid, rifampicin, streptomycin, oxytetracycline, and doxycycline, and harbored the inhA, rpoB, rpsL, and otrB genes. Conclusion In brief, to the best of our knowledge this is the first report that emphasized the emergence of avian tuberculosis in house-reared domestic birds in Egypt. The emergence of MDR- M. avium subsp. avium is considered a public health threat. Emerging MDR-M. avium subsp. avium in domestic birds are commonly harbored the IS901, inhA, rpoB, rpsL, and otrB genes. Azithromycin and clofazimine revealed a promising in-vitro antibacterial activity against M. avium subsp. avium.


2021 ◽  
Vol 52 (4) ◽  
pp. 925-931
Author(s):  
Hadi & et al.

This study was aimed to determine the most sensitive isolation procedures and evaluate the genetic diversity of Moraxella bovis because there are large number of pathogenic bacteria and several other infectious agents such as virus and Mycoplasma have been isolated from the eyes infected with infectious bovine keratoconjunctivitis (IBK). This study included examination of (40) eye swabs, from cows from different ages and regions in Basrah city showed clinical signs of an ocular infection. The isolated bacteria that obtained in pure cultures were non-motile, catalase and oxidase positive, and a clear zone of β-hemolytic colonies were produced on blood agar. According to the growth characteristics, morphology, staining and biochemical tests, the isolated bacteria were identified  initially as Moraxella spp., the genetic diversity among Moraxella spp. was assessed by 16S rRNA and sequencing as M. bovis. The study has also indicated that the isolates of M. bovis were resistant to tetracycline, chloramphenicol and erythromycin, However, they were sensitive to penicillin and gentamicin and has an intermediate sensitivity to streptomycin. This study concluded that PCR techniques and sequencing were verified to be most accurate tools to indicate the genetic diversity between Moraxella spp. in bovine keratoconjunctivitis.


2021 ◽  
Vol 13 (9) ◽  
pp. 155
Author(s):  
Kai Li ◽  
Liuhao Wang ◽  
Zhengyi Zhang ◽  
Yulong Guo ◽  
Jun Guo ◽  
...  

The gut of bumblebees harbors bacteria that play a crucial role in physiology, nutrition, and health. The mating rate is important for the reproductive activity of a colony; however, few studies have investigated the relationship between mating and gut bacteria. In this study, bacterial functions were identified in the intestinal tract of bumblebees, and biochemical identification and screening were performed using genetic detection technology. By isolating and identifying bacteria, we obtained a single strain and fed it to queens. The results indicated that Bacillus cereus and Bacillus pumilus are present in the gut. The queen mating rates were 48.89% at the period of 4 days and higher than 28.89% mating rates of the control group (P < 0.05), and the latency time were 16.90 min (from entering the mating cage to mating success) and decreased than control (P < 0.05) which was 28.20 min. This finding confirmed that Bacillus was important in Bombus terrestris mating.


2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Qinghong Li ◽  
Chunmei Sun ◽  
Jinzhen Guo ◽  
Wen Zhai ◽  
Liping Zhang

Abstract Background The terminal 10q26 deletion syndrome is a clinically heterogeneous disorder without identified genotype–phenotype correlations. We reported a case of congenital asymmetric crying facies (ACF) syndrome with 10q26.12qter deletion and discussed their genotype–phenotype correlations and the potentially contributing genes involving the etiology of ACF. Methods and results We reported a case of neonatal 10q26.12qter deletion and summarized the genotype–phenotype correlations and contributing genes of 10q26.12qter deletion from DECIPHER database and published studies. Meanwhile, we analyzed the potential pathogenic genes contributing to 10q26 deletion syndrome. The female preterm infant harboring 10q26.12qter deletion showed symptoms of abnormal craniofacial appearance with rare congenital asymmetric crying facies, developmental retardation, congenital heart disease, and pulmonary artery hypertension. The deleted region was 13.28 Mb in size as detected by G-banding and array comparative genome hybridization, containing 62 Online Mendelian Inheritance in Man (OMIM) catalog genes. We summarized data from 17 other patients with 10q26.12qter deletion, 11 from the DECIPHER database and 6 from published studies. Patients with monoallelic WDR11 and FGFR2 deletions located in 10q26.12q26.2 were predisposed to craniofacial dysmorphisms, growth retardation, intellectual disability and cardiac diseases. Conclusion ACF is a facial dysmorphism frequently accompanied by other systemic deformities. It is a genetic abnormality that may associate with terminal 10q26.12 deletion. Early cardiac, audiologic, cranial examinations and genetic detection are needed to guide early diagnosis and treatment strategy.


2021 ◽  
pp. 101758
Author(s):  
Ibrahim Khalil ◽  
Abu Hashem ◽  
Amit R. Nath ◽  
Nurhidayatullaili Muhd Julkapli ◽  
Wageeh A. Yehye ◽  
...  
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