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2021 ◽  
Vol 5 (1) ◽  
pp. 2
Author(s):  
Bassam Al-Naami ◽  
Feras Al-Naimat ◽  
Abdul-Majeed Raja M. Almalty ◽  
Paolo Visconti ◽  
Abdel-Razzak Al-Hinnawi

This paper proposes an electronic prototype of the Grooved Pegboard Test (GPT), which is normally used to test the presence of hand dexterity. The prototype imitates the geometrical dimensions of an on-the-market GPT device, but it is electronic, not manual like the one available now for users. The suggested electronic GPT device makes automated time calculation between placing the first and the last peg in their designated locations, instead of manually observing a stopwatch normally used during the GPT. The electronic GPT prototype consists of a fabricated wooden box, electronics (switches and microcontroller), and liquid crystal display (LCD). A set of 40 normal volunteers, 20 females and 20 males, tested the designed prototype. A set of six volunteers with chronic medical conditions also participated in evaluating the proposed model. The results on normal volunteers showed that the proposed electronic GPT device yielded time calculations that match the population mean value of similar calculations by the GPT device. The one-sample t-test showed no significant difference in calculations between the new electronic GPT and the manual GPT device. The p-value was much higher than 0.05, indicating the possible use of the suggested electronic GPT device.


2021 ◽  
Vol 64 (11) ◽  
pp. 800-805
Author(s):  
Byung-Jun Kang ◽  
Jin-Woo Park ◽  
Sang-Yen Geum ◽  
Un-Kyung Kim ◽  
Seung-Heon Shin ◽  
...  

Background and Objectives Several studies have shown that three single nucleotide polymorphisms (SNPs) in the TAS2R38 gene demonstrate a strong association with the ability to sense the bitter taste of phenylthiocarbamide (PTC) in. We have previously reported about TAS2R38 genotypes in normal volunteers. The aim of this study was to investigate the role TAS2R38 gene plays in taste disorder by examining SNPs in the TAS2R38 gene in taste disorder patients.Subjects and Method Ninety-four patients with taste dysfunction from multiple etiologies were enrolled. The genotypes were defined by identifying SNPs on the TAS2R38 gene. The proportion of different TAS2R38 genotypes in the group was compared with that in the normal volunteers of our previous study. The whole mouth taste threshold tests were performed and the thresholds were compared among the three different genotypic groups.Results The proportion of each diplotype in taste disorder patients were as follows: PAV/ PAV 36.2% (34/94), PAV/AVI 34.0% (32/94), and AVI/AVI 29.8% (28/94). The proportion of AVI/AVI type was higher in the group than in the normal volunteers (p=0.031). The detection and recognition thresholds of all four basic tastes were increased in the order of PAV/PAV, PAV/AVI, and AVI/AVI genotypes.Conclusion The proportion of AVI/AVI homozygous was significantly higher in taste disorder patients than in the normal volunteers. Our findings suggest that the genotypes of TAS2R38 may represent one of the risk factors responsible for the development of taste disorders.


Blood ◽  
2021 ◽  
Vol 138 (Supplement 1) ◽  
pp. 2961-2961
Author(s):  
Abhisek Ghosal ◽  
Francys Alarcon ◽  
Samuel Koo ◽  
Soo Jin Kang ◽  
Archana Ramesh ◽  
...  

Abstract Background: Multiple myeloma (MM) is a blood cancer type affecting plasma cell in bone marrow. MM is heterogenous in nature but t(11;14)(q13;q32) translocation is a common prognostic marker among MM patients. One of the most frequent oncogenic drivers involved in this chromosomal rearrangement is CCND1 (Cyclin D1) gene translocation downstream to the immunoglobulin heavy chain (IGH), which results on overexpression of CCND1, thus promoting abnormal cell proliferation. Oncogenic CCND1 RNA levels can result from translocations such as t(11;14), gene amplifications, increased transcription rates and/or RNA stability. Indeed, CCND1 RNA overexpression has a favorable prognostic value for patients treated with high doses of chemotherapies but important challenges remain in accurate detection of CCND1 RNA levels. Currently, FISH is the gold standard method for detecting t(11:14) translocations at the DNA level. However, it cannot detect CCND1 overexpression. Therefore, a method that can detect CCND1 overexpression levels, as well as in frame transcripts has clinical implications. In the current study we leveraged in-use NeoGenomics Heme TNA single tube NGS assay to enable the detection of CCND1 RNA overexpression as a complementary test to FISH testing. Methods: We performed RNA sequencing from 32 healthy donors and on fixed cell pellets from 94 CD138-enriched BM samples from MM patients and from using the amplicon based (Qiagen, inc) NGS assay. We developed pipeline for gene expression by TPM count (transcript per million) for CCND1, and further normalized to the "housekeeping" gene GUSB. We validated the normalization to GUSB by comparing to normalization using the geometric mean of four housekeeping genes (GUSB, PGD, RPL5 and RPL19) showing a high correlation (R 2>0.95). A commercially available qRT-PCR assay was used as orthogonal method to further confirm the linearity of the quantitative gene expression signal in NGS. The analytical cutoff was determined from normalized TPM calculation from 32 healthy volunteers following CLSI guideline (CLSI_EP17-A2) and further updated from MM-PCE samples with t(11:14) translocations from a CLIS-validated FISH assay . Results: From 94 CD138-enriched BM samples, 26 had t(11:14) translocations, or CCND1 gains as detected by FISH, 15 samples were confirmed negative by FISH and 32 normal volunteers with no suspected disease. Also, we determined the analytical cutoff for CCND1 overexpression based on the CLSI guidelines to be 2.37 times the expression level of GUSB ("housekeeping" gene) using normal volunteers (n=32) (sensitivity 86% and specificity 77%). We found specificity to be low, so further evaluated the threshold using a ROC curve analysis with multiple tests. Using Fischer's exact test, we found CCND1 expression 3.27 times the GUSB expression to yield higher specificity of 86.5 % and sensitivity for 78.9%. Further, we used 26 FISH positive and 32 normal samples to build a new model and determined the cutoff for CCND1 overexpression to be 4.15 times GUSB expression, which resulted lower sensitivity but higher specificity (75% sensitivity and 100% specificity). When we evaluated 15 FISH negative samples with this cutoff we observed CCND1 was not overexpressed in six samples, but 9 samples did have some degree of overexpression. Overexpression was confirmed by qRT-PCR. Two CCND1 high- and low- expressing normal samples (MM-PCE 27 and 48) were further evaluated using alternative extraction methods to test the dependencies on extractions and the data showed concordant to each other for overexpression. Interestingly, 1 sample (MM-PCE-27) showed very high overexpression without t(11:14) translocation event (~100 fold over expressed). Cytogenetic studies were discordant with FISH as well for this sample, showing abnormalities related to chr7q,13q,12p but no indication of any chr11 related event. Conclusions: In this study we evaluated our existing NGS assay for CCND1 overexpression using TNA as a surrogate for traditional FISH, while demonstrating the accuracy of the RNA quantitation by NGS using qRT-PCR. We developed an RNA-seq based CCND1 expression assay that could be used to complement traditional FISH testing especially if there is limited specimen. The confirmation of overexpression in FISH negative samples may suggest new ways to improve MM patients risk stratification and treatment. Disclosures Ghosal: NeoGenomics Laboratories: Current Employment. Alarcon: NeoGenomics Laboratories: Current Employment. Koo: Neo Genomics Laboratories: Current Employment. Kang: Neo Genomics Laboratories: Current Employment. Ramesh: Neo Genomics Laboratories: Current Employment. Gyuris: Neo Genomics Laboratories: Current Employment. Jung: NeoGenomics Laboratories, Inc.: Current Employment. Thomas: NeoGenomics Laboratories, Inc.: Current Employment. Fabunan: NeoGenomics Laboratories, Inc.: Current Employment. Magnan: NeoGenomics Laboratories, Inc.: Current Employment. Nam: NeoGenomics Laboratories, Inc.: Current Employment. Petersen: Neo Genomics Laboratories: Current Employment. Lopez-Diaz: NeoGenomics Laboratories, Inc.: Current Employment. Yamahata: Neo Genomics Laboratories: Current Employment. Bender: NeoGenomics Laboratories, Inc.: Current Employment. Agersborg: NeoGenomics Laboratories, Inc.: Current Employment. Ye: Neo Genomics Laboratories: Current Employment. Funari: NeoGenomics Laboratories, Inc.: Current Employment.


2021 ◽  
Vol Volume 15 ◽  
pp. 4507-4512
Author(s):  
Shunya Tatara ◽  
Fumiatsu Maeda ◽  
Yoshinosuke Tsukahara ◽  
Tomoya Handa ◽  
Kiyoshi Yaoeda

2021 ◽  
pp. 1-6
Author(s):  
Farahnaz Ghaemi ◽  
Abolfazl Fateh ◽  
Abbas Akhavan Sepahy ◽  
Mehrangiz Zangeneh ◽  
Mostafa Ghanei ◽  
...  

BACKGROUND: Type 2 diabetes as the most prevalent metabolic disorder, is one of the major causes of morbidity and mortality worldwide. Recent studies suggest that body microbiota may play a role in developing metabolic disorders including type 2 diabetes. The objective of the present study was to investigate the blood microbiota composition in Iranian pre-diabetic and type 2 diabetic patients compared to healthy individuals. METHODS: Blood samples were taken after 12-h fasting from 90 participants, 30 healthy individuals, 30 type 2 diabetes patients and 30 pre-diabetic participants. The buffy coat layer separated by centrifugation at 800 and DNA was extracted using a column-based method. Composition and load of blood microbiota was evaluated by real-time PCR method using genus specific 16S rRNA primers. RESULTS: The load of Akkermansia, and Faecalibacterium was higher in normal volunteers compared to pre-diabetic and type 2 diabetes group (p< 0.05). The load of Bifidobacterium was higher in normal volunteers compared to type 2 diabetes patients (p= 0.02). In contrast, the load of Lactobacillus and Escherichia coli was higher in pre-diabetics and type 2 diabetes patients compared to normal volunteers (p< 0.05). The load of Bacteroides fragilis was not statistically different between studied groups but it was higher in males compared to female group (p= 0.04). the load of other bacteria was not significantly different between male and female participants. CONCLUSION: There is difference between microbiota composition in white blood cells of pre-diabetic and type 2 diabetes patients compared to healthy people. Determination of blood microbiota pattern may have a role in diagnosis and preventive of type 2 diabetes in a certain population. For more clarification about correlation between blood microbiota and type 2 diabetes, larger studies with more participants in different ethnical populations is suggested.


2020 ◽  
Vol 16 (S9) ◽  
Author(s):  
Joseph Foss ◽  
Mohamed Naguib ◽  
Tony Giordano

2020 ◽  
Vol 31 (13) ◽  
pp. 1228-1237
Author(s):  
Mohammed I Danjuma ◽  
Shaikha Al Shokri ◽  
Nadia Bakhsh ◽  
Mohammed A Alamin ◽  
Mohamed GH Mohamedali ◽  
...  

There are increasing reports of antiretroviral therapy (ART) drug-related kidney dysfunction. Traditional markers of kidney dysfunction such as urine protein/creatinine ratio and estimated glomerular filtration rate (eGFR) have thus far proven ineffective at detecting some sub-clinical forms of ART-related kidney injury. This is a cross-sectional examination of 114 people living with HIV (PLWH), either naïve ( N =104) or treatment experienced ( N =10). Urinary kidney injury molecule-1 (KIM-1 ng/mg) thresholds were estimated using electrochemiluminescent assays from stored urine samples and normalised for urinary creatinine excretion (KIM-1/Cr). Correlation coefficients and predictors of kidney tubular injury were compared and derived for both adjusted and unadjusted urinary KIM-1/CR (ng/mg). In PLWH (both ART-naïve and treatment experienced) had a higher baseline unadjusted and adjusted median (≥3.7 ng/mg) and upper tertile (≥6.25 ng/mg) urinary KIM-1/Cr levels compared to either non-normal volunteers (0.39 ng/mg) or those with acute kidney injury in the general population (0.57 ng/mg). When upper tertile KIM-1/Cr (≥6.25 ng/mg) was utilised as a marker of kidney injury, eGFR (ml/min/1.73 m2), white Caucasian ethnicity, and protease inhibitor exposure were significantly associated with increased risk of kidney injury in multivariate analyses (odds ratio 0.91, confidence interval [CI] 0.68–0.98, P = 0.02; odds ratio 8.9, CI 1.6–48.6, p = 0.01; and odds ratio 0.05, CI 0.03–0.9, p =0.04, respectively). We found a significant degree of sub-clinical kidney injury (high unadjusted and adjusted KIM-1/Cr) in PLWH with normal kidney function (eGFR ≥60 ml/min/1.73 m2). We also found a higher baseline KIM-1/Cr (ng/mg) in our study cohort than reported both in normal volunteers and patients with kidney injury in the general population.


Author(s):  
Eimantas Abelkis ◽  
Inneke Willekens ◽  
Cedric Boulet ◽  
Nico Buls ◽  
Steven Provyn ◽  
...  

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