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2.
Toxins (Basel) ; 13(3)2021 03 18.
Artigo em Inglês | MEDLINE | ID: mdl-33803852

RESUMO

Shiga toxins (Stxs) are classic bacterial toxins and major virulence factors of toxigenic Shigella dysenteriae and enterohemorrhagic Escherichia coli (EHEC). These toxins recognize a glycosphingolipid globotriaosylceramide (Gb3/CD77) as their receptor and inhibit protein synthesis in cells by cleaving 28S ribosomal RNA. They are the major cause of life-threatening complications such as hemolytic uremic syndrome (HUS), associated with severe cases of EHEC infection, which is the leading cause of acute kidney injury in children. The threat of Stxs is exacerbated by the lack of toxin inhibitors and effective treatment for HUS. Here, we briefly summarize the Stx structure, subtypes, in vitro and in vivo models, Gb3 expression and HUS, and then introduce recent studies using CRISPR-Cas9-mediated genome-wide screens to identify the host cell factors required for Stx action. We also summarize the latest progress in utilizing and engineering Stx components for biomedical applications.

3.
Dis Markers ; 2021: 8821697, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33897912

RESUMO

Predictive studies of acute respiratory distress syndrome (ARDS) in patients with coronavirus disease 2019 (COVID-19) are limited. In this study, the predictors of ARDS were investigated and a score that can predict progression to ARDS in patients with COVID-19 pneumonia was developed. All patients who were diagnosed with COVID-19 pneumonia between February 1, 2020, and May 15, 2020, at five university hospitals in Korea were enrolled. Their demographic, clinical, and epidemiological characteristics and the outcomes were collected using the World Health Organization COVID-19 Case Report Form. A logistic regression analysis was performed to determine the predictors for ARDS. The receiver operating characteristic (ROC) curves were constructed for the scoring model. Of the 166 patients with COVID-19 pneumonia, 37 (22.3%) patients developed ARDS. The areas under the curves for the infiltration on a chest X-ray, C-reactive protein, neutrophil/lymphocyte ratio, and age, for prediction of ARDS were 0.91, 0.90, 0.87, and 0.80, respectively (all P < 0.001). The COVID-19 ARDS Prediction Score (CAPS) was constructed using age (≥60 years old), C-reactive protein (≥5 mg/dL), and the infiltration on a chest X-ray (≥22%), with each predictor allocated 1 point. The area under the curve of COVID-19 ARDS prediction score (CAPS) for prediction of ARDS was 0.90 (95% CI 0.86-0.95; P < 0.001). It provided 100% sensitivity and 75% specificity when the CAPS score cutoff value was 2 points. CAPS, which consists of age, C-reactive protein, and the area of infiltration on a chest X-ray, was predictive of the development of ARDS in patients with COVID-19 pneumonia.


Assuntos
/complicações , /etiologia , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/sangue , Proteína C-Reativa/metabolismo , Estudos de Coortes , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Curva ROC , República da Coreia/epidemiologia , /epidemiologia , Estudos Retrospectivos , Fatores de Risco , Adulto Jovem
4.
Basic Res Cardiol ; 116(1): 30, 2021 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-33893593

RESUMO

Appropriately manipulating macrophage M1/M2 phenotypic transition is a promising therapeutic strategy for tissue repair after myocardial infarction (MI). Here we showed that gene ablation of hypoxia-induced mitogenic factor (HIMF) in mice (Himf-/- and HIMFflox/flox;Lyz2-Cre) attenuated M1 macrophage-dominated inflammatory response and promoted M2 macrophage accumulation in infarcted hearts. This in turn reduced myocardial infarct size and improved cardiac function after MI. Correspondingly, expression of HIMF in macrophages induced expression of pro-inflammatory cytokines; the culturing medium of HIMF-overexpressing macrophages impaired the cardiac fibroblast viability and function. Furthermore, macrophage HIMF was found to up-regulate C/EBP-homologous protein (CHOP) expression, which exaggerated the release of pro-inflammatory cytokines via activating signal transducer of activator of transcription 1 (STAT1) and 3 (STAT3) signaling. Together these data suggested that HIMF promotes M1-type and prohibits M2-type macrophage polarization by activating the CHOP-STAT1/STAT3 signaling pathway to negatively regulate myocardial repair. HIMF might thus constitute a novel target to treat MI.

5.
Dysphagia ; 2021 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-33905045

RESUMO

This study aimed to apply various ranges of citric acid levels in the mouth and T-cannula to compare the validity with instrumental aspiration measures in patients with tracheostomy. Sixty-one patients underwent the citric acid cough reflex test (CRT) and videofluoroscopic swallowing study (VFSS). Citric acid was delivered via facemask and T-cannula at concentrations of 0.4 mol/L, 0.6 mol/L, and 0.8 mol/L. Further, we recorded the coughing count and presence of ≥ 2 (C2) and ≥ 5 (C5) coughs. CRT via facemask at 0.4 mol/L C2, 0.6 mol/L C5, and 0.8 mol/L C2 and C5 were significantly associated with the presence of tracheal aspiration during VFSS. The sensitivity and specificity were optimized at 0.8 mol/L C2 for mouth inhalation and at 0.8 mol/L C5 for T-cannula inhalation. There was a significant difference in the coughing count during CRT at 0.4 mol/L and 0.8 mol/L via mouth inhalation between patients with or without tracheal aspiration, but not via T-cannula. The AUC for 0.8 mol/L facemask inhalation was 0.701. The optimal cut-off value of coughing count was thrice with 84.62% sensitivity and 50.00% specificity on the ROC curve. Afferent sensory nerve desensitization around and below the tracheostomy site could affect coughing reflex initiation and decrease the sensitivity of detecting aspiration in tracheotomized patients. The citric acid CRT via facemask can reliably detect tracheal aspiration and presence of coughing reflex compared to that via T-cannula in patients with tracheostomy.

6.
J Clin Microbiol ; 2021 Apr 21.
Artigo em Inglês | MEDLINE | ID: mdl-33883180

RESUMO

This study was carried out to evaluate the accuracy of various antibody tests for scrub typhus, namely the indirect immunofluorescence assay (IFA) from the Korea Centers for Disease Control and Prevention (KCDC) and four commercial kits (companies A-D). The test accuracy was based on the diagnosis of scrub typhus, as defined by a positive polymerase chain reaction or culture. In total, serum samples from 97 patients with scrub typhus and 200 non-scrub typhus patients were tested. The sensitivity and specificity of each test were, respectively, as follows: for KCDC: 55.7% (95% confidence interval (CI): 45.2-65.8%) and 94.8% (95% CI: 90.4-97.3%) for IgM and 42.3% (95% CI: 32.3-52.7%) and 96.3% (95% CI: 92.6-98.5%) for IgG, with diagnostic cut-offs of ≥1:16 for IgM and ≥1:256 for IgG; for kit A: 70.1% (95% CI: 59.8-78.8%) and 74.6% (95% CI: 67.6-80.6%) for total immunoglobulins, with a cut-off of ≥1:40; for kit B: 64.3% (95% CI: 51.9-75.1%) and 94.9% (95% CI: 81.4-99.1%) for IgM and 67.1% (95% CI: 54.8-77.6%) and 74.4% (95% CI: 57.6-86.4%) for IgG; for kit C: 53.6% (95% CI: 43.2-63.7%) and 99.5% (95% CI: 96.8-100%) for IgM and 36.1% (95% CI: 26.8-46.5%) and 100% (95% CI: 97.6-100%) for IgG; and for kit D: 73.2% (95% CI: 63.1-81.4%) and 89.5% (95% CI: 84.2-93.2%) for total immunoglobulins. These results are all unsatisfactory, highlighting an urgent need for the development of more highly sensitive and specific tests.

7.
Sci Rep ; 11(1): 7435, 2021 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-33795826

RESUMO

We evaluated intracranial failure after hippocampus-avoidance-prophylactic cranial irradiation (HA-PCI) for limited-stage small-cell lung cancer (SCLC). Data of 106 patients who received PCI with 25 Gy were retrospectively reviewed. The patients were divided into two groups based on whether they underwent HA-PCI: the HA-PCI group (n = 48) and the conventional PCI (C-PCI) group (n = 58). Twenty-one patients experienced intracranial failure: 11 and 10 patients in the C-PCI and HA-PCI groups, respectively. Using the log-rank test, the intracranial failure rate was not significantly different between the groups (p = 0.215). No clinical factor was significantly associated with intracranial failure in multivariate Cox regression analysis, but HA-PCI tended to be associated with increased incidence of intracranial failure (HR 2.87, 95% CI 0.86-9.58, p = 0.087). Among patients who received HA-PCI, two developed peri-hippocampal recurrence. A higher thoracic radiotherapy dose (≥ 60 Gy) was significantly associated with DFS (HR 0.52, p = 0.048) and OS (HR 0.35, p = 0.003). However, HA-PCI was associated with neither DFS nor OS. Although HA-PCI may be associated with an increased risk of intracranial failure, HA-PCI did not impair disease control or survival. Future prospective randomized trials are needed to reach a definite conclusion.

8.
Parasit Vectors ; 14(1): 191, 2021 Apr 07.
Artigo em Inglês | MEDLINE | ID: mdl-33827669

RESUMO

BACKGROUND: Rickettsial diseases associated with the spotted fever group constitute a growing number of newly identified Rickettsia pathogens and their tick vectors in various parts of the world. At least 15 distinct tick species belonging to six genera have shown the presence of Rickettsia raoultii. Herein, we report the detection of R. raoultii in ticks from the Republic of Korea (ROK). METHODS: Thirty-five ticks were collected from 29 patients with tick bites in Gwangju Metropolitan City, Jeollanam Province, ROK. The ticks were identified using molecular, morphological, and taxonomic characteristics. All samples were screened for presence of Rickettsia species using nested polymerase chain reactions of their outer membrane protein (ompA) and citrate synthase (gltA) genes. The amplified products were sequenced for subsequent phylogenetic analyses. RESULTS: Sequencing data showed the DNA sequences of R. raoultii in three Haemaphysalis longicornis ticks. All three tick samples were 99.4-100% similar to previously reported partial sequences of ompA of R. raoultii strains CP019435 and MF002523, which formed a single clade with the reference strains. CONCLUSIONS: We provide the first description and molecular identification of R. raoultii detected in H. longicornis ticks in the ROK. This observation extends the geographical distribution of R. raoultii. Screening of human samples for this pathogen will provide information about the prevalence of rickettsial infections in this region.

9.
Microb Cell Fact ; 20(1): 65, 2021 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-33750386

RESUMO

BACKGROUND: The C-3',4'-dideoxygenation structure in gentamicin can prevent deactivation by aminoglycoside 3'-phosphotransferase (APH(3')) in drug-resistant pathogens. However, the enzyme catalyzing the dideoxygenation step in the gentamicin biosynthesis pathway remains unknown. RESULTS: Here, we report that GenP catalyzes 3' phosphorylation of the gentamicin biosynthesis intermediates JI-20A, JI-20Ba, and JI-20B. We further demonstrate that the pyridoxal-5'-phosphate (PLP)-dependent enzyme GenB3 uses these phosphorylated substrates to form 3',4'-dideoxy-4',5'-ene-6'-oxo products. The following C-6'-transamination and the GenB4-catalyzed reduction of 4',5'-olefin lead to the formation of gentamicin C. To the best of our knowledge, GenB3 is the first PLP-dependent enzyme catalyzing dideoxygenation in aminoglycoside biosynthesis. CONCLUSIONS: This discovery solves a long-standing puzzle in gentamicin biosynthesis and enriches our knowledge of the chemistry of PLP-dependent enzymes. Interestingly, these results demonstrate that to evade APH(3') deactivation by pathogens, the gentamicin producers evolved a smart strategy, which utilized their own APH(3') to activate hydroxyls as leaving groups for the 3',4'-dideoxygenation in gentamicin biosynthesis.

10.
Sensors (Basel) ; 21(5)2021 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-33670835

RESUMO

At present, in the field of video-based human action recognition, deep neural networks are mainly divided into two branches: the 2D convolutional neural network (CNN) and 3D CNN. However, 2D CNN's temporal and spatial feature extraction processes are independent of each other, which means that it is easy to ignore the internal connection, affecting the performance of recognition. Although 3D CNN can extract the temporal and spatial features of the video sequence at the same time, the parameters of the 3D model increase exponentially, resulting in the model being difficult to train and transfer. To solve this problem, this article is based on 3D CNN combined with a residual structure and attention mechanism to improve the existing 3D CNN model, and we propose two types of human action recognition models (the Residual 3D Network (R3D) and Attention Residual 3D Network (AR3D)). Firstly, in this article, we propose a shallow feature extraction module and improve the ordinary 3D residual structure, which reduces the parameters and strengthens the extraction of temporal features. Secondly, we explore the application of the attention mechanism in human action recognition and design a 3D spatio-temporal attention mechanism module to strengthen the extraction of global features of human action. Finally, in order to make full use of the residual structure and attention mechanism, an Attention Residual 3D Network (AR3D) is proposed, and its two fusion strategies and corresponding model structure (AR3D_V1, AR3D_V2) are introduced in detail. Experiments show that the fused structure shows different degrees of performance improvement compared to a single structure.


Assuntos
Atividades Humanas , Redes Neurais de Computação , Humanos , Reconhecimento Automatizado de Padrão , Gravação em Vídeo
11.
Toxicol In Vitro ; 75: 105136, 2021 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-33675894

RESUMO

Although in vivo inhalation toxicity tests have been widely conducted, the testing of many chemicals is limited for economic and ethical reasons. Therefore, we previously developed an in vitro acute inhalation toxicity test method. The goal of the present pre-validation study was to evaluate the transferability, reproducibility, and predictive capacity of this method. After confirming the transferability of the Calu-3 epithelium cytotoxicity assay, reproducibility was evaluated using 20 test substances at three independent institutions. Cytotoxicity data were analyzed using statistical methods, including the intra-class correlation coefficient and Bland-Altman plots for within- and between-laboratory reproducibility. The assay for the 20 test substances showed excellent agreement within and between laboratories. To evaluate the predictive capacity, 77 test substances were analyzed for acute inhalation toxicity. Accuracy was measured using a cutoff of 40%, and the relevance was analyzed as a receiver-operating characteristic (ROC) curve. An accuracy of 72.73% was obtained, and the area under the ROC curve was 0.77, indicating moderate performance. In this study, we found that the in vitro acute inhalation toxicity test method demonstrated good reliability and relevance for predicting the acute toxicity of inhalable chemicals. Hence, this assay has potential as an alternative test for screening acutely toxic inhalants.

12.
Bioresour Technol ; 330: 124992, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33744736

RESUMO

Although the high nitrogen content of chicken manure (CM) poses major challenges for methane production through anaerobic digestion, on the bright side, it has a great potential for production of value-added intermediate products, such as volatile fatty acids (VFAs). However, in order to enhance VFAs yield, methane formation should be substantially suppressed. In the current research, individual and multiple effects of initial pH, heat-shock pretreatment, chemical methanogens inhibitor and the inoculum to substrate ratio (ISR) on optimization VFAs fermentation from CM were evaluated via batch assays. In this regard, the highest net VFAs yield, 0.53 g-VFA/g-VS, was achieved at conditions with heat-shocked inoculum and CM at ISR 1:6 and pH uncontrolled. Acetate dominated the VFAs mixture, accounting for up to 75% of total. Increased inoculum content enhanced the bioconversion efficiency to 78% at ISR 1:3. The study results suggest that alkalinity is a key promoter of VFAs production from CM.


Assuntos
Galinhas , Esterco , Anaerobiose , Animais , Reatores Biológicos , Ácidos Graxos Voláteis , Fermentação , Metano
13.
Plants (Basel) ; 10(2)2021 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-33668581

RESUMO

The fruit of Schisandra chinensis, Omija, is a well-known traditional medicine used as an anti-tussive and anti-diarrhea agent, with various biological activities derived from the dibenzocyclooctadiene-type lignans. A high-pressure liquid chromatography-diode array detector (HPLC-DAD) method was used to determine seven lignans (schisandrol A and B, tigloylgomisin H, angeloylgomisin H, schisandrin A, B, and C) in the different plant parts and beverages of the fruit of S. chinensis grown in Korea. The contents of these lignans in the plant parts descended in the following order: seeds, flowers, leaves, pulp, and stems. The total lignan content in Omija beverages fermented with white sugar for 12 months increased by 2.6-fold. Omija was fermented for 12 months with white sugar, brown sugar, and oligosaccharide/white sugar (1:1, w/w). The total lignan content in Omija fermented with oligosaccharide/white sugar was approximately 1.2- and 1.7-fold higher than those fermented with white sugar and brown sugar, respectively. A drink prepared by immersion of the fruit in alcohol had a higher total lignan content than these fermented beverages. This is the first report documenting the quantitative changes in dibenzocyclooctadiene-type lignans over a fermentation period and the effects of the fermentable sugars on this eco-friendly fermentation process.

14.
Artigo em Inglês | MEDLINE | ID: mdl-33721582

RESUMO

In the present study, liquid chromatography-mass spectrometer (LC-MS) was used to perform untargeted metabolomics analysis of white adipose tissue (WAT) and brown adipose tissue (BAT) in Tupaia belangeri during cold acclimation. Differences in biochemical composition between WAT and BAT were compared. Clarifying how the two adipose tissues respond to the lower temperature in terms of metabolomics, which elucidate the metabolic process and energy homeostasis regulation mechanism in T. belangeri. The results showed that there were 34, 59 and 20 differential metabolites in the WAT, BAT and WAT compared with BAT, respectively. WAT and BAT had significant differences in various metabolic pathways such as sugar metabolism, amino acid metabolism, lipid metabolism, and nucleotide metabolism, which were closely related to the different biological roles of the two tissues. Increasing the concentrations of intermediate products of tricarboxylic acid (TCA) cycle, pyruvic acid, and phosphoenolpyruvic acid (PEP) in WAT and increasing the metabolites in TCA cycle, glyoxylate and dicarboxylate metabolism pathways in BAT, likely to increase the thermogenic capacity in T. belangeri in response to cold stress. There were more differential metabolic pathways in BAT during cold acclimation than that of in WAT. Moreover, compared to WAT, BAT responds to cold stress by adjusting the concentration of nucleotide metabolites.

15.
Am J Hematol ; 96(5): 538-544, 2021 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-33534136

RESUMO

Neurologic complications are common in patients with sickle cell anemia (SCA), but conventional tools such as MRI and transcranial Doppler ultrasonography (TCD) do not fully assess cerebrovascular pathology. Cerebral tissue oximetry measures mixed oxygen saturation in the frontal lobes (SCT O2 ) and provides early prognostic information about tissue at risk of ischemic injury. Untreated patients with SCA have significantly lower SCT O2 than healthy controls that declines with age. Hydroxyurea is effective in preventing many SCA-related complications, but the degree to which it preserves normal neurophysiology is unclear. We analyzed participants enrolled in the Therapeutic Response Evaluation and Adherence Trial (TREAT, NCT02286154), which enrolled participants initiating hydroxyurea using individualized dosing (new cohort) and those previously taking hydroxyurea (old cohort) and was designed to monitor the long-term benefits of hydroxyurea. Cerebral oximetry was performed at baseline and annually. For the new cohort (median starting age = 12 months, n = 55), mean baseline SCT O2 was normal before starting hydroxyurea (mean 65%, 95% CI 58-72%) and significantly increased after 2 years (mean 72%, 95% CI 65-79%, p < .001). The SCT O2 for patients receiving long-term hydroxyurea (median age = 9.6 years) was normal at study entry (mean 66%, 95% CI 58-74%) and remained stable across 2 years. Both cohorts had significantly higher SCT O2 than published data from predominantly untreated SCA patients. Cerebral oximetry is a non-invasive method to assess cerebrovascular pathology that complements conventional imaging. Our results indicate that hydroxyurea suggests protection against neurophysiologic changes seen in untreated SCA.

16.
Artigo em Inglês | MEDLINE | ID: mdl-33529774

RESUMO

BACKGROUND: The study aimed (1) to determine patient acceptable symptomatic state (PASS) values for the pain visual analog scale (PVAS), range-of-motion (ROM) scale difference, Mayo Elbow Performance Score (MEPS), and Self-evaluation Elbow (SEE) following osteocapsular arthroplasty for primary elbow osteoarthritis and (2) to determine factors for achieving the PASS. METHODS: The study analyzed retrospectively collected osteocapsular arthroplasty registry data from January 2010 to April 2019. Fifty patients were evaluated, and anchor questions for deriving PASS values were administered at a 1-year follow-up. PASS values for the PVAS score, ROM difference, MEPS, and SEE score were derived using a sensitivity- and specificity-based approach. Univariate and multivariate logistic regression analyses were performed to determine factors for achieving the PASS. A subgroup comparison analysis based on age was also conducted. RESULTS: The PASS value was 1.0 for the PVAS score, 15° for ROM difference, 75 for the MEPS, and 60 for the SEE score. Older age (≥65 years) showed significantly lower odds ratios for achieving the PASS for the PVAS score (0.888; 95% confidence interval, 0.804-0.981; P = .032) and ROM (0.861; 95% confidence interval, 0.760-0.976; P = .020). CONCLUSION: Reliable PASS values were derived for the PVAS score, ROM difference, MEPS, and SEE score after osteocapsular arthroplasty. The PASS values defined in this study can be implemented as clinically relevant targets in patients undergoing osteocapsular arthroplasty. An analysis of factors that affect clinical symptom improvement showed that older age (≥65 years) was significantly correlated with lower PASS values for the PVAS score and ROM.

17.
Eur J Radiol ; 137: 109582, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33578089

RESUMO

PURPOSE: We aimed to develop a deep learning (DL)-based algorithm for automated quantification of aortic valve calcium (AVC) from non-enhanced electrocardiogram-gated cardiac CT scans and compare performance of DL-measured AVC volume and Agatston score with those of visual gradings by radiologist readers for classification of AVC severity. METHOD: A total of 589 CT examinations performed at a single center between March 2010 and August 2017 were retrospectively included. The DL algorithm was designed to segment AVC and to quantify AVC volume, and Agatston score was calculated using attenuation values. Manually measured AVC volume and Agatston score were used as ground truth. To validate AVC segmentation performance, the Dice coefficient was calculated. For observer performance testing, four radiologists determined AVC grade in two reading rounds. The diagnostic performance of DL-measured AVC volume and Agaston score for classifying severe AVC was compared with that of each reader's assessment. RESULTS: After applying the DL algorithm, the Dice coefficient score was 0.807. In patients with AVC, accuracy of DL-measured AVC volume for AVC grading was 97.0 % with area under the curve (AUC) of 0.964 (95 % confidence interval [CI] 0.923-1) in the test set, which was better than the radiologist readers (accuracy 69.7 %-91.9 %, AUC 0.762-0.923) with manually measured AVC volume as ground truth. When manually measured AVC Agatston score was used as ground truth, accuracy of DL-measured AVC Agatston score for AVC grading was 92.9 % with AUC of 0.933 (95 % CI 0.885-0.981) in the test set, which was also better than the radiologist readers (accuracy 77.8-89.9 %, AUC 0.791-0.903). CONCLUSIONS: DL-based automated AVC quantification may be comparable with manual measurements. The diagnostic performance of the DL-measured AVC volume and Agatston score for classification of severe AVC outperforms radiologist readers.


Assuntos
Estenose da Valva Aórtica , Calcinose , Aprendizado Profundo , Algoritmos , Valva Aórtica/diagnóstico por imagem , Calcinose/diagnóstico por imagem , Cálcio , Humanos , Estudos Retrospectivos , Índice de Gravidade de Doença
18.
Clin Imaging ; 76: 53-59, 2021 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-33549920

RESUMO

PURPOSE: To assess the diagnostic performance of ultrasound (US) attenuation imaging (ATI) for diagnosis and grading of hepatic steatosis with comparison to magnetic resonance imaging-proton density fat fraction (MRI-PDFF) using mDIXON-Quant sequence. METHODS: Total 100 patients who underwent abdominal US ATI and MRI-PDFF within one month were included. Subjects were divided into three groups according to MRI-PDFF; Group 1 (no fatty liver), Q < 5.1%; Group 2 (mild fatty liver), 5.1% ≤ Q < 14.1%; and Group 3 (moderate fatty liver), Q ≥ 14.1%. US attenuation coefficients (AC) of enrolled patients were measured and correlated with MRI-PDFF. And their diagnostic performances were assessed. AC, MRI-PDFF, and liver function tests were compared among all groups. RESULTS: Mean AC value of each group was as follows: Group 1 = 0.58 ± 0.11 dB/cm/MHz, Group 2 = 0.68 ± 0.08 dB/cm/MHz, and Group 3 = 0.77 ± 0.06 dB/cm/MHz. Mean AC value of each group of hepatic steatosis showed statistically significant difference (p < 0.001). There was a significant correlation between AC and MRI-PDFF in Pearson correlation (r = 0.751, p < 0.001). The area under the ROC curve (AUROC) of AC was 0.914 with sensitivity of 91.5%, and specificity of 80.0% for detection of mild fatty liver, and 0.935 for detection of moderate fatty liver with sensitivity of 93.3%, and specificity of 87.1%. CONCLUSION: AC using ultrasound ATI showed high diagnostic performance and provided discriminative values for severity grading of fatty liver disease.

19.
Genet Med ; 2021 Feb 02.
Artigo em Inglês | MEDLINE | ID: mdl-33531666

RESUMO

PURPOSE: The endoplasmic reticulum membrane complex (EMC) is a highly conserved, multifunctional 10-protein complex related to membrane protein biology. In seven families, we identified 13 individuals with highly overlapping phenotypes who harbor a single identical homozygous frameshift variant in EMC10. METHODS: Using exome, genome, and Sanger sequencing, a recurrent frameshift EMC10 variant was identified in affected individuals in an international cohort of consanguineous families. Multiple families were independently identified and connected via Matchmaker Exchange and internal databases. We assessed the effect of the frameshift variant on EMC10 RNA and protein expression and evaluated EMC10 expression in normal human brain tissue using immunohistochemistry. RESULTS: A homozygous variant EMC10 c.287delG (Refseq NM_206538.3, p.Gly96Alafs*9) segregated with affected individuals in each family, who exhibited a phenotypic spectrum of intellectual disability (ID) and global developmental delay (GDD), variable seizures and variable dysmorphic features (elongated face, curly hair, cubitus valgus, and arachnodactyly). The variant arose on two founder haplotypes and results in significantly reduced EMC10 RNA expression and an unstable truncated EMC10 protein. CONCLUSION: We propose that a homozygous loss-of-function variant in EMC10 causes a novel syndromic neurodevelopmental phenotype. Remarkably, the recurrent variant is likely the result of a hypermutable site and arose on distinct founder haplotypes.

20.
PLoS Negl Trop Dis ; 15(2): e0009128, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33606699

RESUMO

BACKGROUND: Severe fever with thrombocytopenia syndrome (SFTS) is an acute, febrile, and potentially fatal tick-borne disease caused by the SFTS Phlebovirus. Here, we evaluated the effects of steroid therapy in Korean patients with SFTS. METHODS: A retrospective study was performed in a multicenter SFTS clinical cohort from 13 Korean university hospitals between 2013 and 2017. We performed survival analysis using propensity score matching of 142 patients with SFTS diagnosed by genetic or antibody tests. RESULTS: Overall fatality rate was 23.2%, with 39.7% among 58 patients who underwent steroid therapy. Complications were observed in 37/58 (63.8%) and 25/83 (30.1%) patients in the steroid and non-steroid groups, respectively (P < .001). Survival analysis after propensity score matching showed a significant difference in mean 30-day survival time between the non-steroid and steroid groups in patients with a mild condition [Acute Physiology and Chronic Health Evaluation II (APACHE II) score <14; 29.2 (95% CI 27.70-30.73] vs. 24.9 (95% CI 21.21-28.53], P = .022]. Survival times for the early steroid (≤5 days from the start of therapy after symptom onset), late steroid (>5 days), and non-steroid groups, were 18.4, 22.4, and 27.3 days, respectively (P = .005). CONCLUSIONS: After steroid therapy, an increase in complications was observed among patients with SFTS. Steroid therapy should be used with caution, considering the possible negative effects of steroid therapy within 5 days of symptom onset or in patients with mild disease (APACHE II score <14).

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