Conectar
by Norihide Sugisaki, Kai Kobayashi, Takaya Yoshimoto, Naotoshi Mitsukawa, Hiroyasu Tsuchie, Yohei Takai, Hiroaki Kanehisa
This study aimed to elucidate the influence of horizontal resistance loads on the spatiotemporal and ground reaction force (GRF) variables during maximal sprint acceleration. Nine male sprinters (20.2 ± 1.2 years; 175.3 ± 4.5 cm, 69.7 ± 6.1 kg) performed sprint-running with six loading conditions of one unresisted and five resisted loads of 4, 6, 8, 10, and 12 kg using a resistance training device with intelligent drag technology. During the trials, the GRFs for all steps were determined using a 50-m force plate system. The spatiotemporal and GRF variables at running velocity of every 0.5 m/s were obtained and compared across the loading conditions. The maximal running velocity under 0, 4, 6, 8, 10, and 12 kg loading conditions were 9.84 ± 0.41, 8.55 ± 0.41, 8.09 ± 0.33, 7.62 ± 0.34, 7.11 ± 0.31, and 6.71 ± 0.29 m/s, respectively. ANOVA revealed significant main effects of load on the measured variables (η2 = 0.236–0.715, pby Yoshiro Hadano, Takanori Matsumoto
In this retrospective study, we aimed to investigate the frequency, trend, and nature of non-infectious diseases (non-IDs) as the final diagnosis for patients during an infectious disease (ID) consultation in an acute care hospital in Japan. This study included adult inpatients who underwent ID consultations between October 2016 and March 2018. The demographic data, clinical manifestations, and final non-ID diagnoses of cases were explored. Among the 502 patients who underwent ID consultations, 45 (9.0%) were diagnosed with non-IDs. The most common diagnoses were tumors (22.2%, n = 10), connective tissue and collagen vascular diseases (13.3%, n = 6), other inflammatory diseases (8.9%, n = 4), and drug-induced fever (8.9%, n = 4). Multiple logistic regression analysis showed that the presence of consultations for diagnosis (odds ratio [OR], 22.0; 95% confidence interval [CI], 10.1–48.2; pby John Efromson, Giuliano Ferrero, Aurélien Bègue, Thomas Jedidiah Jenks Doman, Clay Dugo, Andi Barker, Veton Saliu, Paul Reamey, Kanghyun Kim, Mark Harfouche, Jeffrey A. Yoder
Normal development of the immune system is essential for overall health and disease resistance. Bony fish, such as the zebrafish (Danio rerio), possess all the major immune cell lineages as mammals and can be employed to model human host response to immune challenge. Zebrafish neutrophils, for example, are present in the transparent larvae as early as 48 hours post fertilization and have been examined in numerous infection and immunotoxicology reports. One significant advantage of the zebrafish model is the ability to affordably generate high numbers of individual larvae that can be arrayed in multi-well plates for high throughput genetic and chemical exposure screens. However, traditional workflows for imaging individual larvae have been limited to low-throughput studies using traditional microscopes and manual analyses. Using a newly developed, parallelized microscope, the Multi-Camera Array Microscope (MCAM™), we have optimized a rapid, high-resolution algorithmic method to count fluorescently labeled cells in zebrafish larvae in vivo. Using transgenic zebrafish larvae, in which neutrophils express EGFP, we captured 18 gigapixels of images across a full 96-well plate, in 75 seconds, and processed the resulting datastream, counting individual fluorescent neutrophils in all individual larvae in 5 minutes. This automation is facilitated by a machine learning segmentation algorithm that defines the most in-focus view of each larva in each well after which pixel intensity thresholding and blob detection are employed to locate and count fluorescent cells. We validated this method by comparing algorithmic neutrophil counts to manual counts in larvae subjected to changes in neutrophil numbers, demonstrating the utility of this approach for high-throughput genetic and chemical screens where a change in neutrophil number is an endpoint metric. Using the MCAM™ we have been able to, within minutes, acquire both enough data to create an automated algorithm and execute a biological experiment with statistical significance. Finally, we present this open-source software package which allows the user to train and evaluate a custom machine learning segmentation model and use it to localize zebrafish and analyze cell counts within the segmented region of interest. This software can be modified as needed for studies involving other zebrafish cell lineages using different transgenic reporter lines and can also be adapted for studies using other amenable model species.by Anna Lundström, Urban Wiklund, Annika Winbo, Håkan Eliasson, Marcus Karlsson, Annika Rydberg
BackgroundSwimming is a genotype-specific trigger in long QT syndrome type 1 (LQT1).
ObjectiveTo examine the autonomic response to water activities in children and adolescents with LQT1.
MethodsIn this cross-sectional study, LQT1 patients were age and sex matched to one healthy control subject. Electrocardiograms (ECGs) were recorded during face immersion (FI), swimming, diving, and whole-body submersion (WBS). Heart rate (HR) and heart rate variability (HRV) was measured. The high frequency (HF) component of HRV was interpreted to reflect parasympathetic activity, while the low frequency (LF) component was interpreted as reflecting the combined influence of sympathetic and parasympathetic activity on autonomic nervous modulation of the heart.
ResultsFifteen LQT1 patients (aged 7–19 years, all on beta-blocker therapy) and fifteen age and sex matched non-medicated controls were included. No significant ventricular arrhythmias were observed in the LQT1 population during the water activities. Out of these 15 matched pairs, 12 pairs managed to complete FI and WBS for more than 10 seconds and were subsequently included in HR and HRV analyses. In response to FI, the LQT1 group experienced a drop in HR of 48 bpm, compared to 67 bpm in the control group (p = 0.006). In response to WBS, HR decreased by 48 bpm in the LQT1 group and 70 bpm in the control group (p = 0.007). A significantly lower PTOT (p Conclusion
A significantly lower HR decrease in response to water activities was observed in LQT1 subjects on beta-blocker therapy, compared to matched non-medicated controls. The data suggests an impaired parasympathetic response in LQT1 children and adolescents. An aberrant autonomic nervous system (ANS) response may cause an autonomic imbalance in this patient group.
by Kate Caruana, Chris Hayre, Chandra Makanjee
IntroductionPaediatric patients are a vulnerable population that require additional care by healthcare professionals. Quality managing these examinations ensures that effective and quality care is provided to individual patients, whilst encouraging consistency within the medical imaging department. This study explored radiographers’ perspectives on quality management strategies of general radiographic paediatric examinations using a paediatric imaging reflective checklist.
MethodsA quantitative descriptive research design with qualitative questions was used through a purposive sampling method from both public and private Australian diagnostic imaging qualified radiographers who had experience in paediatric imaging examinations. The paediatric imaging service reflective tool consisted of 65 items in total. Data analysis entailed Microsoft Excel version 16.16.6 and Jamovi version 2.3.21 for the closed-ended questions and for the open-ended responses a thematic analysis.
ResultsThe participation rate was 13.2% and the most significant findings were: lead shielding was still being used at their organisation, despite recent recommendations to suspend its use; access to paediatric patient related information resources is limited; there was no involvement of families and communities regarding policy development or quality improvement measures as advocated in literature; and there was a need for enhanced specialised paediatric education, training and protocols.
ConclusionUsing the paediatric patient-centred imaging reflective checklist, radiographers had an opportunity to identify quality improvement indicators as well as issues that could further enhance best practice principles. Further studies could inform on the validity of this reflective tool.
by Nabeela Arbee-Kalidas, Hlamatsi Jacob Moutlana, Yoshan Moodley, Moses Mogakolodi Kebalepile, Palesa Motshabi Chakane
BackgroundExercise capacity should be determined in all patients undergoing lung resection for lung cancer surgery and cardiopulmonary exercise testing (CPET) remains the gold standard. The purpose of this study was to investigate associations between preoperative CPET and postoperative outcomes in patients undergoing lung resection surgery for lung cancer through a review of the existing literature.
MethodsA search was conducted on PubMed, Scopus, Cochrane Library and CINAHL from inception until December 2022. Studies investigating associations between preoperative CPET and postoperative outcomes were included. Risk of bias was assessed using the QUIPS tool. A random effect model meta-analysis was performed. I2 > 40% indicated a high level of heterogeneity.
ResultsThirty-seven studies were included with 6450 patients. Twenty-eight studies had low risk of bias. V˙O2 peak is the oxygen consumption at peak exercise and serves as a marker of cardiopulmonary fitness. Higher estimates of V˙O2 peak, measured and as a percentagege of predicted, showed significant associations with a lower risk of mortality [MD: 3.66, 95% CI: 0.88; 6.43 and MD: 16.49, 95% CI: 6.92; 26.07] and fewer complications [MD: 2.06, 95% CI: 1.12; 3.00 and MD: 9.82, 95% CI: 5.88; 13.76]. Using a previously defined cutoff value of > 15mL/kg/min for V˙O2 peak, showed evidence of decreased odds of mortality [OR: 0.55, 95% CI: 0.28–0.81] and but not decreased odds of postoperative morbidity [OR: 0.82, 95% CI: 0.64–1.00]. There was no relationship between V˙E/V˙CO2 slope, which depicts ventilatory efficiency, with mortality [MD: -9.60, 95% CI: -27.74; 8.54] however, patients without postoperative complications had a lower preoperative V˙E/V˙CO2 [MD: -2.36, 95% CI: -3.01; -1.71]. Exercise load and anaerobic threshold did not correlate with morbidity or mortality. There was significant heterogeneity between studies.
ConclusionsEstimates of cardiopulmonary fitness as evidenced by higher V˙O2 peak, measured and as a percentage of predicted, were associated with decreased morbidity and mortality. A cutoff value of V˙O2 peak > 15mL/kg/min was consistent with improved survival but not with fewer complications. Ventilatory efficiency was associated with decreased postoperative morbidity but not with improved survival. The heterogeneity in literature could be remedied with large scale, prospective, blinded, standardised research to improve preoperative risk stratification in patients with lung cancer scheduled for lung resection surgery.
by Hyeon-Jeong Lee, Mijin Jeon, Yoondam Seo, Inseon Kang, Wooyeon Jeong, Junghyun Son, Eugene C. Yi, Hophil Min
As the number of prohibited drugs has been progressively increasing and analytical methods for detecting such substances are renewed continuously for doping control, the need for more sensitive and accurate doping analysis has increased. To address the urgent need for high throughput and accurate analysis, liquid chromatography with tandem mass spectrometry is actively utilized in case of most of the newly designated prohibited substances. However, because all mass spectrometer vendors provide data processing software that is incapable of handling other instrumental data, it is difficult to cover all doping analysis procedures, from method development to result reporting, on one platform. Skyline is an open-source and vendor-neutral software program invented for the method development and data processing of targeted proteomics. Recently, the utilization of Skyline has been expanding for the quantitative analysis of small molecules and lipids. Herein, we demonstrated Skyline as a simple platform for unifying overall doping control, including the optimization of analytical methods, monitoring of data quality, discovery of suspected doping samples, and validation of analytical methods for detecting newly prohibited substances. For method optimization, we selected the optimal collision energies for 339 prohibited substances. Notably, 195 substances exhibited a signal intensity increase of >110% compared with the signal intensity of the original collision energy. All data related to method validation and quantitative analysis were efficiently visualized, extracted, or calculated using Skyline. Moreover, a comparison of the time consumed and the number of suspicious samples screened in the initial test procedure highlighted the advantages of using Skyline over the commercially available software TraceFinder in doping control.by Nana Takahashi, Kota Sato, Naoki Kiyota, Mai Yamazaki, Eriko Kunikane, Toru Nakazawa
PurposeThe purpose of this study was to investigate the effect of a 1% brinzolamide and 0.1% brimonidine fixed combination (BBFC) on ONH blood flow (BF) in rabbits.
MethodsA crossover study was conducted on pigmented rabbits; a physiological saline solution, brinzolamide, or BBFC was administered for eight days. ONH BF, intraocular pressure (IOP) and systemic parameters were measured before the eighth day’s first dose and at 6, 9, 12, and 14 hours after the dose. ONH BF was assessed using laser speckle flowgraphy, and mean blur rate (MBR) values were calculated. The percentage against baseline of each parameter was calculated, and intergroup comparisons were performed at each time point.
ResultsThere were no significant differences in the percentage change in systemic parameters. At 6 hours after administration, the BBFC group showed a significantly higher percentage change in large vessel area-MBR (%MV) compared to the control group (98.6±16.8%MV vs. 81.3±7.9%MV, P = 0.03). On the other hand, the brinzolamide group did not show a significant difference. Both the brinzolamide and BBFC groups had significantly lower percentage change in IOP (%IOP) compared to the control group (90.6±5.0%IOP, 93.3±2.9%IOP, and 99.2±1.7%IOP, respectively, P Conclusion
BBFC effectively reduces IOP and mitigates diurnal fluctuation-induced decreases in ONH BF.
by Byungseok Kang, Youngjae Jo
Recently, Generative Adversarial Networks (GAN) has been greatly developed and widely used in image synthesis. A Style-Based Generator Architecture for Generative Adversarial Networks (StyleGAN) which is the foremost, continues to develop human face inversion domain. StyleGAN uses insufficient vector space to express more than one million pixels. It is difficult to apply in real business due to distortion-edit tradeoff problem in latent space. To overcome this, we propose a novel semantic segment encoder (SSE) with improved face inversion quality by narrowing the size of restoration latent space. Encoder’s learning area is minimized to logical semantic-segment units that can be recognized by humans. The proposed encoder does not affect other segments because only one segment is edited at a time. To verify the face inversion quality, we compared with the latest encoders both Pixel2style2Pixel and RestyleEncoder. Experimental result shows that the proposed encoder improved distortion quality around 20% while maintain editing performance.by Shota Moriya, Hiromi Kazama, Hirotsugu Hino, Naoharu Takano, Masaki Hiramoto, Shin Aizawa, Keisuke Miyazawa
We previously reported that macrolide antibiotics, such as clarithromycin (CAM), blocked autophagy flux, and simultaneous proteasome and autophagy inhibition by bortezomib (BTZ) plus CAM resulted in enhanced apoptosis induction in multiple myeloma (MM) cells via increased endoplasmic reticulum (ER) stress loading. However, in actual therapeutic settings, cell adhesion-mediated drug resistance between bone marrow stromal cells (BMSC) and MM cells has been known to be a barrier to treatment. To investigate whether CAM could enhance BTZ-induced cytotoxicity in MM cells under direct cell adhesion with BMSC, we established a co-culture system of EGFP-labeled MM cells with BMSC. The cytotoxic effect of BTZ on MM cells was diminished by its interaction with BMSC; however, the attenuated cytotoxicity was recovered by the co-administration of CAM, which upregulates ER stress loading and NOXA expression. Knockout of NOXA in MM cells canceled the enhanced cell death by CAM, indicating that NOXA is a key molecule for cell death induction by the co-administration of CAM. Since NOXA is degraded by autophagy as well as proteasomes, blocking autophagy with CAM resulted in the sustained upregulation of NOXA in MM cells co-cultured with BMSC in the presence of BTZ. Our data suggest that BMSC-associated BTZ resistance is mediated by the attenuation of ER stress loading. However, the addition of CAM overcomes BMSC-associated resistance via upregulation of NOXA by concomitantly blocking autophagy-mediated NOXA degradation and transcriptional activation of NOXA by ER stress loading.by Shahid Mohammad Ganie, Pijush Kanti Dutta Pramanik, Saurav Mallik, Zhongming Zhao
Chronic kidney disease (CKD) has become a major global health crisis, causing millions of yearly deaths. Predicting the possibility of a person being affected by the disease will allow timely diagnosis and precautionary measures leading to preventive strategies for health. Machine learning techniques have been popularly applied in various disease diagnoses and predictions. Ensemble learning approaches have become useful for predicting many complex diseases. In this paper, we utilise the boosting method, one of the popular ensemble learnings, to achieve a higher prediction accuracy for CKD. Five boosting algorithms are employed: XGBoost, CatBoost, LightGBM, AdaBoost, and gradient boosting. We experimented with the CKD data set from the UCI machine learning repository. Various preprocessing steps are employed to achieve better prediction performance, along with suitable hyperparameter tuning and feature selection. We assessed the degree of importance of each feature in the dataset leading to CKD. The performance of each model was evaluated with accuracy, precision, recall, F1-score, Area under the curve-receiving operator characteristic (AUC-ROC), and runtime. AdaBoost was found to have the overall best performance among the five algorithms, scoring the highest in almost all the performance measures. It attained 100% and 98.47% accuracy for training and testing sets. This model also exhibited better precision, recall, and AUC-ROC curve performance.by Sabuj Kanti Mistry, A. R. M. Mehrab Ali, Uday Narayan Yadav, Saruna Ghimire, Afsana Anwar, Md. Nazmul Huda, Fouzia Khanam, Rashidul Alam Mahumud, Ateeb Ahmad Parray, Shovon Bhattacharjee, David Lim, Mark Fort Harris
ObjectiveThe present study aims to measure the prevalence of non-disabled frailty and its associated factors among Bangladeshi older adults.
MethodsThis cross-sectional study was conducted during September and October 2021 among 1,045 Bangladeshi older adults (≥60 years). Telephone interviews, using a semi-structured questionnaire, were undertaken to collect data on participants’ characteristics and level of frailty. The non-disabled frailty was measured using the ‘Frail Non-Disabled (FiND)’ questionnaire. A multinomial logistic regression model assessed the factors associated with frailty among the participants.
ResultsAround a quarter of the participants (24.8%) were frail. The multinomial regression analysis showed that older participants aged ≥80 years (RRR = 3.23, 95% CI: 1.41–7.37) were more likely to be frail compared to participants aged 60–69 years. Likewise, the participants living in a large family with ≥4 members (RRR = 1.39, 95% CI: 1.01–1.92) were more likely to be frail compared to those living in smaller families. Also, participants having memory or concentration problems (RRR = 1.56, 95% CI: 1.12–2.17) were more likely to be frail compared to those who were not suffering from these problems. Moreover, participants whose family members were non-responsive to their day-to-day assistance (RRR = 1.47, 95% CI: 1.06–2.03) were more likely to be frail compared to those whose family members were responsive. Furthermore, participants who were feeling lonely (RRR = 1.45, 95% CI: 1.07–1.98) were more likely to be frail than their counterparts who were not feeling lonely.
ConclusionsThe findings of the present study suggest developing tailored interventions to address the burden of frailty among the older populations in Bangladesh. In particular, providing long-term care and health promotion activities can be of value in preventing frailty and reducing adverse health outcomes among this vulnerable population group.
by Ki-Hoon Kim, Seol Whan Oh, Soo Jeong Ko, Kang Hyuck Lee, Wona Choi, In Young Choi
Numerous studies make extensive use of healthcare data, including human materials and clinical information, and acknowledge its significance. However, limitations in data collection methods can impact the quality of healthcare data obtained from multiple institutions. In order to secure high-quality data related to human materials, research focused on data quality is necessary. This study validated the quality of data collected in 2020 from 16 institutions constituting the Korea Biobank Network using 104 validation rules. The validation rules were developed based on the DQ4HEALTH model and were divided into four dimensions: completeness, validity, accuracy, and uniqueness. Korea Biobank Network collects and manages human materials and clinical information from multiple biobanks, and is in the process of developing a common data model for data integration. The results of the data quality verification revealed an error rate of 0.74%. Furthermore, an analysis of the data from each institution was performed to examine the relationship between the institution’s characteristics and error count. The results from a chi-square test indicated that there was an independent correlation between each institution and its error count. To confirm this correlation between error counts and the characteristics of each institution, a correlation analysis was conducted. The results, shown in a graph, revealed the relationship between factors that had high correlation coefficients and the error count. The findings suggest that the data quality was impacted by biases in the evaluation system, including the institution’s IT environment, infrastructure, and the number of collected samples. These results highlight the need to consider the scalability of research quality when evaluating clinical epidemiological information linked to human materials in future validation studies of data quality.by Sukanya G. Gakare, Jay M. Bhatt, Kishore Kumar S. Narasimhan, Shashank M. Dravid
In this study, we investigated the role of glutamate delta 1 receptor (GluD1) in oligodendrocyte progenitor cell (OPC)-mediated myelination during basal (development) and pathophysiological (cuprizone-induced demyelination) conditions. Initially, we sought to determine the expression pattern of GluD1 in OPCs and found a significant colocalization of GluD1 puncta with neuron-glial antigen 2 (NG2, OPC marker) in the motor cortex and dorsal striatum. Importantly, we found that the ablation of GluD1 led to an increase in the number of myelin-associated glycoprotein (MAG+) cells in the corpus callosum and motor cortex at P40 without affecting the number of NG2+ OPCs, suggesting that GluD1 loss selectively facilitates OPC differentiation rather than proliferation. Further, deletion of GluD1 enhanced myelination in the corpus callosum and motor cortex, as indicated by increased myelin basic protein (MBP) staining at P40, suggesting that GluD1 may play an essential role in the developmental regulation of myelination during the critical window period. In contrast, in cuprizone-induced demyelination, we observed reduced MBP staining in the corpus callosum of GluD1 KO mice. Furthermore, cuprizone-fed GluD1 KO mice showed more robust motor deficits. Collectively, our results demonstrate that GluD1 plays a critical role in OPC regulation and myelination in normal and demyelinating conditions.by Farhana Boby, Md. Nurul Huda Bhuiyan, Barun Kanti Saha, Subarna Sandhani Dey, Anik Kumar Saha, Md Jahidul Islam, Mahci Al Bashera, Shyama Prosad Moulick, Farhana Jahan, Md. Asad Uz Zaman, Sanjana Fatema Chowdhury, Showti Raheel Naser, Md. Salim Khan, Md. Murshed Hasan Sarkar
The raising concern of drug resistance, having substantial impacts on public health, has instigated the search of new natural compounds with substantial medicinal activity. In order to find out a natural solution, the current study has utilized prodigiosin, a linear tripyrrole red pigment, as an active ingredient to control bacterial proliferation and prevent cellular oxidation caused by ROS (Reactive Oxygen Species). A prodigiosin-producing bacterium BRL41 was isolated from the ancient Barhind soil of BCSIR Rajshahi Laboratories, Bangladesh, and its morphological and biochemical characteristics were investigated. Whole genome sequencing data of the isolate revealed its identity as Serratia sp. and conferred the presence of prodigiosin gene cluster in the bacterial genome. “Prodigiosin NRPS”, among the 10 analyzed gene clusters, showed 100% similarity with query sequences where pigC, pigH, pigI, and pigJ were identified as fundamental genes for prodigiosin biosynthesis. Some other prominent clusters for synthesis of ririwpeptides, yersinopine, trichrysobactin were also found in the chromosome of BRL41, whilst the rest displayed less similarity with query sequences. Except some first-generation beta-lactam resistance genes, no virulence and resistance genes were found in the genome of BRL41. Structural illumination of the extracted red pigment by spectrophotometric scanning, Thin-Layer Chromatography (TLC), Fourier Transform Infrared Spectroscopy (FTIR), and change of color at different pH solutions verified the identity of the isolated compound as prodigiosin. Serratia sp. BRL41 attained its maximum productivity 564.74 units/cell at temperature 30˚C and pH 7.5 in two-fold diluted nutrient broth medium. The compound exhibited promising antibacterial activity against Gram-positive and Gram-negative bacteria with MIC (Minimum Inhibitory Concentration) and MBC (Minimum Bactericidal Concentration) values ranged from 3.9 to15.62 μg/mL and 7.81 to 31.25 μg/mL respectively. At concentration 500 μg/mL, except in Salmonella enterica ATCC-10708, prodigiosin significantly diminished biofilm formed by Listeria monocytogens ATCC-3193, Pseudomonas aeruginosa ATCC-9027, Escherichia coli (environmental isolate), Staphylococcus aureus (environmental isolate). Cellular glutathione level (GSH) was elevated upon application of 250 and 500 μg/mL pigment where 125 μg/mL failed to show any free radical scavenging activity. Additionally, release of cellular components in growth media of both Gram-positive and Gram-negative bacteria were facilitated by the extract that might be associated with cell membrane destabilization. Therefore, the overall findings of antimicrobial, antibiofilm and antioxidant activities suggest that in time to come prodigiosin might be a potential natural source to treat various diseases and infections.by Kamonwan Chamchoy, Sirapapha Sudsumrit, Jutamas Wongwigkan, Songsak Petmitr, Duantida Songdej, Emily R. Adams, Thomas Edwards, Ubolsree Leartsakulpanich, Usa Boonyuen
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked enzymopathy caused by mutations in the G6PD gene. A medical concern associated with G6PD deficiency is acute hemolytic anemia induced by certain foods, drugs, and infections. Although phenotypic tests can correctly identify hemizygous males, as well as homozygous and compound heterozygous females, heterozygous females with a wide range of G6PD activity may be misclassified as normal. This study aimed to develop multiplex high-resolution melting (HRM) analyses to enable the accurate detection of G6PD mutations, especially among females with heterozygous deficiency. Multiplex HRM assays were developed to detect six G6PD variants, i.e., G6PD Gaohe (c.95A>G), G6PD Chinese-4 (c.392G>T), G6PD Mahidol (c.487G>A), G6PD Viangchan (c.871G>A), G6PD Chinese-5 (c.1024C>T), and G6PD Union (c.1360C>T) in two reactions. The assays were validated and then applied to genotype G6PD mutations in 248 Thai females. The sensitivity of the HRM assays developed was 100% [95% confidence interval (CI): 94.40%–100%] with a specificity of 100% (95% CI: 88.78%–100%) for detecting these six mutations. The prevalence of G6PD deficiency was estimated as 3.63% (9/248) for G6PD deficiency and 31.05% (77/248) for intermediate deficiency by phenotypic assay. The developed HRM assays identified three participants with normal enzyme activity as heterozygous for G6PD Viangchan. Interestingly, a deletion in intron 5 nucleotide position 637/638 (c.486-34delT) was also detected by the developed HRM assays. G6PD genotyping revealed a total of 12 G6PD genotypes, with a high prevalence of intronic variants. Our results suggested that HRM analysis-based genotyping is a simple and reliable approach for detecting G6PD mutations, and could be used to prevent the misdiagnosis of heterozygous females by phenotypic assay. This study also sheds light on the possibility of overlooking intronic variants, which could affect G6PD expression and contribute to enzyme deficiency.by Jihun Ahn, HyeYon Yu, Seung-Woon Rha, Byoung Geol Choi, Dong Oh Kang, Cheol Ung Choi, Sangho Park, Jon Seo, Kichang Kim, Minung Kim, Yong Hoon Kim, Yong Seong Seo
This prospective, multicenter, randomized study aimed to compare the 1-year clinical outcomes after primary stenting with self-expanding bare metal nitinol stent (SENS) and plain old balloon angioplasty (POBA) in patients with critical limb ischemia (CLI) and below-the-knee (BTK) lesions. Overall, 119 patients with CLI and BTK lesions were randomized to POBA alone (POBA group, 61 patients) or primary stenting with SENS (stenting group, 58 patients) after achieving acceptable POBA results in target BTK lesions. Clinical outcomes including amputation and revascularization rates were prospectively compared for 1 year. After 1 year, similar incidence rates of individual clinical endpoints, including cardiac death (6.5% vs. 5.1%, p > 0.999), myocardial infarction (1.6% vs. 0.0%, p > 0.999), repeat revascularization (19.6% vs. 18.9%, p = 0.922), target lesion revascularization (13.1% vs. 17.2%, p = 0.530), and amputation (4.9% vs. 0.0%, p = 0.244), were observed. POBA appeared to have acceptable treatment outcomes compared with primary stenting with SENS after 1 year in CLI patients with BTK lesions undergoing percutaneous transluminal angioplasty (PTA).by Philipp Kanzow, Katharina Mielke, Franziska Haupt, Susanne Wiegand, Henning Schliephake, Dirk Beutner, Annette Wiegand
Oral health might not only act as risk factor for head and neck squamous cell carcinoma (HNSCC), but might also have a predictive value for the patients’ survival. Currently, information on the effect of oral health on survival of patients with different sites of HNSCC is lacking. This single-center retrospective study aimed to compare oral health in patients with different sites of HNSCC and to analyse whether oral health is associated with survival in the different subsets of HNSCC patients. Dental records of HNSCC patients referred for dental assessment prior to radio(chemo)therapy were included. Patient-related parameters (age at time of diagnosis, sex, tobacco exposure, alcohol consumption, HPV status), treatment data (primary treatment, intent), performance status, tumor demographics (anatomical site, TNM staging), and oral health parameters (DMFT, periodontal health, teeth with/without root canal treatment and with/without periodontitis apicalis) were obtained. Oral health parameters were compared between different anatomical sites. Survival of all HNSCC patients and of individual subsets was assessed using Kaplan-Meier statistics, and the effect of tumor demographics, patient-related parameters, and oral health on survival was analysed by cox regression analyses (α = 5%). 371 patients with HNSCC (oral: n = 86, oropharyngeal: n = 174, hypopharyngeal: n = 59, laryngeal: n = 15, other: n = 37) were included. Oral health parameters did not differ between subsets (padj.≥0.199). Five-year cumulative survival of HNSCC patients amounted to 78.6%. Only for HNSCC originating in the oral cavity and oropharynx, survival was associated with the treatment intent (p = 0.015) or performance status (p = 0.007) in the multivariable analyses, respectively. Within the limitations of this study, oral health was not different between different subsets and had no significant effect on survival of HNSCC patients.
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