Genetic Profile–Guided Therapy for Stroke?

Aim: study of the predictive value of determining ctDNA during treatment with osimertinib in patients with NSCLC with EGFR mutation. Methods: The study included patients with metastatic EG-FR-associated NSCLC, in whom, with progression against the background of 1st - 2nd generation TKIs, the T790M mutation was detected. Patients received osimertinib therapy 80 mg/ day, daily, until progression. Before treatment, and then every 2 months, whole blood was taken to conduct a qualitative assessment of ctDNA in dynamics by the RT-PCR method. Results: From 2016 to 2019 in St. Petersburg Clinical Scientific and Practical Center of Specialized Types of Medical Care (Oncology), 22 patients were identified T790M associated progression of EGFR NSCLC. 81.9% (18/22) are women, 18.1% (4/22) are men. The average age is 61.2 years (50-75). 1/22 had smoking experience for more than 30 years. The molecular genetic profile in 16 is represented by ex19del, 5 L858R, 1 -a combination of rare mutations G719S+S768I. The effect of therapy was evaluated in 20/22 patients. PR and SD were registered in 9/20 (45%) and 10/20 (50%) patients, respectively. Median PFS - 16.7 months (cI 95%, 11,4-22,0). In 12/22 patients was observed the disappearance of ctDNA T790M after 2 months of osimertinib therapy. PFS is 18,9 months (95% CI, 14,8-19,7), in patients with no mutation detected in the second month of treatment compared with the group of patients in which the ctDNA was determined (PFS 8.0 months) (CI 95%, 4,2-11,8) (p=0.015). Correlation analysis did not reveal any clinical factors associated with the disappearance of ctDNA. Conclusions: The disappearance of ctDNA in plasma after 2 months of treatment with osimertinib is associated with an increase in PFS and can be considered as a predictive marker in patients with metastatic NSCLC EGFR T790M.

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Immunogenetics of Celiac Disease: A Focus on Arab Countries

Current Molecular Medicine ◽

10.2174/1566524019666191024104930 ◽

2020 ◽

Vol 20 (4) ◽

pp. 275-285 ◽

Cited By ~ 1

Author(s):

Nadin Younes ◽

Salma Younes ◽

Ola. A. Alsharabasi ◽

Mohamed E. El Zowalaty ◽

Ibrahim Mustafa ◽

...

Keyword(s):

Celiac Disease ◽

Genetic Epidemiology ◽

Arab World ◽

Human Leukocyte ◽

Epidemiological Studies ◽

Arab Countries ◽

Global Perspective ◽

Genetic Profile ◽

Leukocyte Antigen ◽

Genetic And Environmental Factors

Celiac Disease (CD) is a complex immunogenic disease mainly triggered by gluten intake in genetically susceptible individuals with a prevalence of 1 in 100-300. CD results from the interplay between genetic and environmental factors. Genetic susceptibility is believed to play a prominent role in the pathogenicity of CD, mainly due to human leukocyte antigen (HLA)-related class II genes. Although CD is wellrecognized among Arab populations, there are few studies on the genetic epidemiology and prevalence of CD in the Arab countries. Therefore, the aim of this review was to highlight the importance of studying this disease in the Arab world in the context of a global perspective. Within the few studies published so far, it was found that Arab populations have a distinctive susceptibility genetic profile from other ethnic groups with the DQ2.5 and DQ8 genotypes that are considered the major genotypes that confer susceptibility among Arab patients with CD. Our findings will pave the way to perform further epidemiological studies that will help identify potential therapeutic targets against CD among Arab patients that are diagnosed with CD.

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Three-Dimensional Localization: From Image-Guided Surgery to Information-Guided Therapy

Methods ◽

10.1006/meth.2001.1234 ◽

2001 ◽

Vol 25 (2) ◽

pp. 186-200 ◽

Cited By ~ 20

Author(s):

Richard D. Bucholz ◽

Kurt R. Smith ◽

Keith A. Laycock ◽

Leslie L. McDurmont

Keyword(s):

Three Dimensional ◽

Image Guided Surgery ◽

Guided Surgery ◽

Image Guided ◽

Guided Therapy

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Procalcitonin Correlates With but Is Not Superior to Other Diagnostic Markers of Bacterial Pneumonia

American Journal of Clinical Pathology ◽

10.1093/ajcp/aqaa148 ◽

2020 ◽

Author(s):

Nadia Ayala-Lopez ◽

David R Peaper ◽

Roa Harb

Keyword(s):

Respiratory Tract ◽

Lower Respiratory Tract ◽

Bacterial Pneumonia ◽

Operating Characteristic ◽

Characteristic Curve ◽

Laboratory Data ◽

Chest Imaging ◽

Wbc Count ◽

Tract Infections ◽

Guided Therapy

Abstract Objectives Despite extensive research on procalcitonin (PCT)-guided therapy in lower respiratory tract infections, the association between PCT and bacterial pneumonia remains unclear. Methods We evaluated retrospectively the performance of PCT in patients presenting with lower respiratory tract infection symptoms and grouped by seven diagnoses. All patients had microbial testing, chest imaging, and CBC counts within 1 day of PCT testing. Results Median PCT level in patients diagnosed with bacterial pneumonia was significantly higher than in patients diagnosed with other sources of infections or those not diagnosed with infections. Median PCT levels were not different among patients grouped by type or quantity of pathogen detected. They were significantly higher in patients with higher pathogenicity scores for isolated bacteria, those with abnormal WBC count, and those with chest imaging consistent with bacterial pneumonia. A diagnostic workup that included imaging, WBC count, and Gram stain had an area under the receiver operating characteristic curve of 0.748, and the addition of PCT increased it to 0.778. Conclusions PCT was higher in patients diagnosed with bacterial pneumonia. Less clear is its diagnostic ability to detect bacterial pneumonia over and above imaging and laboratory data routinely available to clinicians.

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uPAR targeted phototheranostic metal-organic framework nanoprobes for MR/NIR-II imaging-guided therapy and surgical resection of glioblastoma

Materials & Design ◽

10.1016/j.matdes.2020.109386 ◽

2021 ◽

Vol 198 ◽

pp. 109386

Author(s):

Zhike Li ◽

Chenyuan Wang ◽

Junrong Chen ◽

Xiang Lian ◽

Chuxiao Xiong ◽

...

Keyword(s):

Surgical Resection ◽

Metal Organic Framework ◽

Metal Organic ◽

Guided Therapy ◽

Organic Framework

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Liver-Metabolizing Genes and Their Relationship to the Performance of Elite Spanish Male Endurance Athletes; a Prospective Transversal Study

Sports Medicine - Open ◽

10.1186/s40798-019-0227-7 ◽

2019 ◽

Vol 5 (1) ◽

Cited By ~ 1

Author(s):

David Varillas Delgado ◽

Juan José Tellería Orriols ◽

Carlos Martín Saborido

Keyword(s):

Binary Logistic Regression ◽

Endurance Performance ◽

Endurance Athletes ◽

Genetic Profile ◽

Glutathione S Transferase ◽

Binary Logistic Regression Model ◽

Genotypic Distribution ◽

Endurance Runner ◽

Cytochrome P450 Family ◽

First Time

Abstract Background The genetic profile that is needed to define an endurance athlete has been studied during recent years. The main objective of this work is to approach for the first time the study of genetic variants in liver-metabolizing genes and their role in endurance performance by comparing the allelic and genotypic frequencies in elite endurance athletes to the non-athlete population. Methods Genotypic and allelic frequencies were determined in 123 elite endurance athletes (75 professional road cyclists and 48 endurance elite runners) and 122 male non-athlete subjects (sedentary). Genotyping of cytochrome P450 family 2 subfamily D member 6 (CYP2D6 rs3892097), glutathione-S transferase mu isoform 1 (GSTM1), glutathione S-transferase pi (GSTP rs1695) and glutathione S-transferase theta (GSTT) genes was performed by polymerase chain reaction (PCR). The combination of the polymorphisms for the “optimal” polygenic profile has been quantified using the genotype score (GS). Results Statistical differences were found in the genetic distributions between elite endurance athletes and non-athletes in CYP2D6 (p < 0.001) and GSTT (p = 0.014) genes. The binary logistic regression model showed a favourable OR (odds ratio) of being an elite endurance runner against a professional road cyclist (OR: 2.403, 95% CI: 1.213–4.760 (p = 0.002)) in the polymorphisms studied. Conclusions Genotypic distribution of liver-metabolizing genes in elite endurance athletes is different to non-athlete subjects, with a favourable gene profile in elite endurance athletes in terms of detoxification capacity.

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