మాలిక్యులర్ మరియు జెనెటిక్ మెడిసిన్

XRCC3 Thr241Met polymorphism has been associated with cancer susceptibility. Studies have shown a relationship between Thr241Met polymorphism and gastric cancer. The present study was aimed at examining the presence of XRCC3 Thr241Met polymorphism in patients diagnosed with gastric cancer in the city of Macapá. We analyzed 150 DNA samples, of which 100 comprised the control group and 50 were case patients. Our findings revealed that 76% of case samples had the Thr/Met genotype (OR (CI 95% 54.29 (18.84-156.38) p ≤ 0.0001) whereas in the control group, the same genotype represented 7%. Also, most gastric cancer patients with XRCC3 241Met polymorphism were heterozygotes. Given the small sample size in this study, a larger number of patients will be analyzed.

Introduction: Asthma exacerbations are associated with viral upper respiratory tract infections, and rhinovirus (RV) is the major cause of these virus-associated exacerbation. Circadian clocks regulate physiological rhythms via transcriptional networks. These networks contain several feedback mechanisms inducing complex tissue specific patterns of gene activation and repression that help to maintain and regulate important biological processes. For example, the neutrophil inflammation of the lung is gated by epithelial circadian oscillators. We hypothesized that recurrent, human rhinovirus infection (HRVI) of in in vitro cultured cells alter the circadian-gated inflammatory networks and imprint a methylation pattern similar to the network found in asthmatic patients.

Results: We measured the methylation of clock and inflammatory genes in the BEAS2-B cell line after 1, 3 or 5 consecutive rhinovirus infections. Hierarchical clustering of methylation levels identified distinct clusters of numbers of infection (NOI: 1,3 and 5) for clock and inflammatory genes in BEAS2-B cells. Furthermore, a linear regression model of the methylation level was used to identify significantly increased or decreased loci (p<0.01). In non-infected cells, clear clusters of RNA expression of circadian clock genes CRY1, PER2, PER3, CLOCK were found to be negatively associated with interleukin 8 (IL-8) expression. After HRVI a partial reversal is observed and the expression of the CLOCK gene is positively correlated to IL-8 expression Similarly, in asthmatic patients, a strong positive correlation between CLOCK and IL-8 was found.

Conclusion: This study provides first insights in how repeated viral infections (e.g. HRVI exacerbations in asthma) may introduce persistent changes to circadian-gated inflammatory networks involved in governing neutrophil recruitment. This could offer novel diagnostic strategies to identify and define certain asthmatic endotypes and lead to novel therapeutic approaches based on circadian rhythm stabilization.

To date, there are no efficient treatments for most of human congenital, developmental, or degenerative diseases because functional cells failed to regenerate new cells following damages to original cells. Stem Cell (SC) based therapeutic approach holds tremendous promise for treating these abnormalities by replacing the damaged cells. This approach has sparked unprecedented attention in this field. However, SC researchers should adopt more robust techniques that incorporate marker genes that render stem cells visible using fluorescence and conventional microscopy. We design a unique approach to label embryonic and adult stem cells, the peptide-mediated quantum dots (QDs) SCs labeling with plasmalemma and nucleolemma specific fusion peptides. Therefore, the targeted SCs will be distinguishable by the new markers to report grafted cells from endogenous cardiomyocytes and to display the trans-differentiation from the SCs. The fluorescence strength of nanocrystal QDs will surmount the interference of the false signals originating from auto-fluorescence of cardiac tissues with their features for anti-bleaching of nonorganic dye.

With the advancement in technology, compositional analysis of saliva for diagnosis of various medical conditions has attracted the researchers over the last decade. Monitoring the salivary biomarkers help in early detection of diseases and increase the rate of success of the treatment. Sampling of saliva is safe, simple, cost effective and does not demand an expertise for collection. Therefore, saliva can be an important diagnostic armamentarium for mass screening for a specific disease or in remote areas. However, despite of various research, there are no definite guidelines regarding sensitivity and specificity of salivary diagnostic tools. Health care professionals must go hand in hand with government agencies to develop more research so that a general acceptance can be developed like that of traditional blood/urine analysis.

In a previous case study, four patients at different stages of Parkinson’s disease (PD) and Neurocognitive Disorder with Lewy Bodies (NCDLB) disease progression were treated with Donepezil, with the intention of mitigating Lewy body impairment of the cholinergic pathways in the myenteric plexus, increasing bowel motility, and reducing the symptom of constipation. In all four cases, the use of Donepezil was associated with significant reduction of the symptom of constipation. There was no exacerbation or instigation of other symptoms. The symptom status of the four patients was reviewed six months later. In none of the patients has there been exacerbation of the symptom of constipation, nor emergence of new symptoms. The findings suggest that Donepezil might have long-term efficacy for reducing constipation in patients with PD and NCDLB. Further research is recommended using larger numbers of subjects matched for diagnosis, age, gender, and other variables.

Objective: The aim of this study is to investigate the prevalence of sensori-neural hearing loss and ototoxicity in acute myeloid leukemia (AML) patients.

Study design: This is a prospective non-randomized study.

Methods: 14 patients with the diagnosis of acute myeloid leukemia were treated with Daunorubicin and Cytarabine (ARA-C). Pure Tone Audiometry (PTA) was performed prior to induction chemotherapy and immediately after completion of induction protocol. Primary outcome was the prevalence of sensori-neural hearing loss. Secondary outcome was correlation of age, sex, absolute neutrophil counts, total white counts, platelet counts and creatinine levels in the study population.

Results: Fourteen patients participated in this study (n=14). Ten patients had normal hearing prior to preinduction treatment. Four patients had pre-existing hearing loss prior to treatment. Post induction treatment, ten patients had normal hearing. However, from these ten patients, one had pre-existing hearing loss which improved. Two patients, whom had normal hearing and pre-existing hearing loss pre-induction treatment respectively, expired. Two patients who had pre-existing hearing loss had the same level of hearing post induction. The prevalence of sensori-neural hearing loss in this study is 71.4%. From our observation, there is no evidence of ototoxicity from induction therapy of Daunorubicin and Cytarabine (ARA-C) in our study population (p=0.001). Induction treatment with Daunorubicin and Cytarabine (ARA-C) shows statistically significant reduction in Absolute Neutrophils Counts (p=0.013), Total White Counts (p=0.001), Haemoglobin Counts (p=0.036) and Creatinine levels (p=0.017) in our study population. Even though Platelet counts showed reduction, this was not supported statistically (p=0.258).

Conclusion: Induction treatment with Daunorubicin and Cytarabine (ARA-C) are safe chemotherapy agents to be administered during the induction phase in treatment of Acute Myeloid Leukemia with no evidence of sensorineural hearing loss. Further study is required to monitor the long-term effects of these drugs during consolidation, remission or relapse phases of treatment and if possible during stem cell transplant treatment.

Deciphering human genome has ushered modern bio-medical science towards a future hope of revitalizing current symptomatic or prophylactic treatment methods into personalized and predictive medicine depending upon an individual’s genetic makeup. Genetic variations related to a person’s response towards drugs, differential susceptibility to disease and reciprocity of phenotypic attributes related to environment, ethno-racial origin and diseases to genotypes have not been meticulously apprehended yet. Ayurveda, an age-old health science resonated unequivocally with ancient system of classifying a person on the basis of “Prakriti” or unchangeable constitution type might be an advantageous inclination towards personalized medicine, bearing testable molecular and genetic correlates. Several genomic and metabolomic studies augmented the possibilities of yet undisclosed molecular and genetic basis of Ayurveda, which could further be integrated or complemented to current medical diagnosis and treatment. Further deep dive into the extremes of utilizable science and technology of this holistic practice remained quintessential for better enlightenment of future bio-medical science to fight all fiends of ailments.

Epidermal growth factor receptor (EGFR) is a member of the EGFR tyrosine kinase family, which consists of EGFR (erbB1/Her1), Her2/neu (erbB2), Her3 (erbB3) and Her4 (erbB4). HER receptors are ubiquitously expressed in various cell types, under homeostatic conditions, receptor activation is tightly regulated by the availability of ligands, which collectively form the EGF family.

Purpose: 18F-fluorodeoxyglucose (¹⁸F-FDG) accumulation in the left ventricular (LV) wall detects active myocardial inflammatory lesions in cardiac sarcoidosis (CS), but the significance of ¹⁸F-FDG accumulation in mediastinal and hilar lymph nodes (LNs) remains unclear. We investigated the association between CS recurrence and ¹⁸F-FDG accumulation in the mediastinal and hilar LNs, using positron emission tomography/computed tomography (PET/CT).

Materials and Methods: We retrospectively analyzed the records of 68 patients diagnosed with CS, who underwent ¹⁸F-FDG PET/CT before beginning treatment. The minimum follow-up period was 24 months. Patients were assigned to the recurrence (n=18) or no recurrence group (n=50) based on follow-up examinations. The 18FFDG PET/CT maximum standardized uptake value (SUV_max) was measured in the LV wall, right ventricular (RV) wall, and mediastinal and hilar LNs. The association of CS recurrence was analyzed using Cox proportional hazards models. Recurrence-free survival (RFS) curves were made using the Kaplan-Meier method.

Results: In univariate analysis, sex, BNP, LVEF, and the SUV_max in the LV wall, RV wall, and mediastinal and hilar LNs were significant risk factors for CS recurrence. In multivariate analysis, only the SUV_max in the mediastinal and hilar LNs was a significant risk factor for CS recurrence. RFS rates were significantly higher in patients with an SUV_max<4.1 vs. ≥ 4.1 (log-rank value=36.0, p<0.01).

Conclusion: The mediastinal and hilar LN SUV_max was an independent risk factor for CS recurrence after treatment. ¹⁸F-FDG accumulation in mediastinal and hilar LNs on ¹⁸F-FDG PET before treatment may be a useful biomarker to predict CS recurrence.

This case report aimed to characterize dento-osseous anomalies in Familial Adenomatous Polyposis (FAP) in a Brazilian patient. Furthermore, FAP was investigate for possible causative. This case report showed the importance of dento-osseous knowledge related to FAP. Early dento-osseous anomalies diagnosis revealed the need to followup FAP family members from childhood and was essential for subsequent clinical or genetic FAP diagnosis. The authors think that this work is important as it provides highlights about the role of the dentist in the early diagnosis of FAP, a disease that predisposes colorectal cancer.

Heme oxygenase-1 (HO-1) is important in the defense against oxidative stress. Length polymorphisms in this GT repeat region correlate with levels of HO-1 expression and associates with several diseases. The aim of this study was to test for possible association of HO-1 (number of GT repeats) with methemoglobin levels in recessive congenital methemoglobinemia in Indian population. Genotyping of DNA isolated from whole blood of 25 RCM patients due to NADH cytochrome b5 reductase deficiency and 50 healthy controls was performed. Fragment size analysis by sequencing was used for genotype/allele definition by ABI 3130 genetic analyzer and size of PCR product was determined by Gene Mapper software. Significance of findings was tested using χ(2) test. The HO-1 (number of GT repeats) polymorphisms was significantly associated with RCM. Results of genotyping analysis indicated that a genotype carrying short alleles (<24 (GT)n repeats was preferentially associated with RCM patients than in control (P<0.001). The short allele (<24 GT repeats) genotype were present in 82% of the methemoglobinemia patients group and long allele (≥31 GT repeats) observed in the normal control group. This study is supporting the association of HO-1 (number of GT repeats) polymorphism and RCM. . Allele and genotype frequencies for HO-1 polymorphisms show significant association with disease severity. This data could also be valuable to the clinicians, mainly hematologists, when attempting a definitive diagnosis for the cause of methemoglobinemia that will help clinical decisions for treatment.

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