Virus classification for viral genomic fragments using PhaGCN2.

Viruses are the most ubiquitous and diverse entities in the biome. Due to the rapid growth of newly identified viruses, there is an urgent need for accurate and comprehensive virus classification, particularly for novel viruses. Here, we present PhaGCN2, which can rapidly classify the taxonomy of viral sequences at the family level and supports the visualization of the associations of all families. We evaluate the performance of PhaGCN2 and compare it with the state-of-the-art virus classification tools, such as vConTACT2, CAT and VPF-Class, using the widely accepted metrics. The results show that PhaGCN2 largely improves the precision and recall of virus classification, increases the number of classifiable virus sequences in the Global Ocean Virome dataset (v2.0) by four times and classifies more than 90% of the Gut Phage Database. PhaGCN2 makes it possible to conduct high-throughput and automatic expansion of the database of the International Committee on Taxonomy of Viruses. The source code is freely available at https://github.com/KennthShang/PhaGCN2.0.

Chemical constituents of the marine-derived fungus Acremonium sp. AN-13.

Two new compounds named 3(S)-hydroxy-1-(2,4,5-trihydroxy-3,6- dimethylphenyl)-hex-4E-en-1-one (1) and acremonilactone (2), together with nine known compounds (3-11), were isolated from the fermentation broth of Acremonium sp. associated with marine sediments collected from South China Sea. NMR and HRESIMS spectroscopic analysis elucidated the structure of two new compounds. Compound 2 had characteristic rotary gate shape skeleton with a six-membered lactone. Compounds 1 and 9 showed DPPH radical scavenging activity with inhibition rates of 96.50 and 85.95% at the concentration of 0.5 mg/ml, respectively. Moreover, compounds 4, 6 and 11 showed definite antibacterial activity against Staphylococcus aureus ATCC 6538.

Correction: Are pangolins the intermediate host of the 2019 novel coronavirus (SARS-CoV-2)?

[This corrects the article DOI: 10.1371/journal.ppat.1008421.].

Impact of an NCCN-Compliant Multidisciplinary Conference on Treatment Decisions for Localized Prostate Cancer.

BACKGROUND: We sought to investigate the impact of an NCCN-compliant multidisciplinary conference on treatment decisions of patients with localized prostate cancer. METHODS: A retrospective review of our quality assurance localized prostate cancer database was performed. All patients with localized prostate cancer who sought a second opinion at Roswell Park Comprehensive Cancer Center between 2009 and 2019 were presented to the multidisciplinary Localized Prostate Cancer Conference (LPCC) that includes urologists, radiation oncologists, pathologists, and patient advocates. Multivariable regression models were fit to evaluate variables associated with concordance between community recommendations, LPCC recommendations, and treatment received by patients. RESULTS: A total of 1,164 patients were identified, of whom 26% had NCCN very low-/low-risk, 27% had favorable intermediate-risk, 25% had unfavorable intermediate-risk, and 22% had high-/very high-risk prostate cancer. Pathology changed in 11% of patients after genitourinary pathologist review, which caused disease reclassification in 9%. Concordance between community and LPCC recommendations occurred in 78%, with lowest concordance for androgen deprivation therapy (21%) and radiotherapy (53%). Concordance between community recommendations and treatment received occurred in 65%, with lowest concordance for androgen deprivation therapy and radiotherapy; among those who were recommended radiotherapy as the only option by their community urologist, only 26% received it. Concordance between LPCC recommendations and treatment received occurred in 92%. CONCLUSIONS: Community recommendations differed from the multidisciplinary NCCN-compliant recommendations in 22% of patients, primarily for radiotherapy. Multidisciplinary recommendations matched the treatment received in 92% of patients compared with 65% for community recommendations.

Does the urinary microbiome profile change after treatment of bladder cancer?

INTRODUCTION: We sought to investigate the change in the urinary microbiome profile after transurethral resection of bladder tumor (TURBT). METHODS: Urine specimens were collected from consecutive patients with bladder cancer. Patients were divided into those with bladder tumors ("Tumor group": de novo tumors or recurrent/progressed after TURBT ± intravesical therapy) versus those without evidence of recurrence after treatment "No Recurrent Tumor group". Samples were analyzed using 16S rRNA sequencing. Alteration in the urinary microbiome was described in terms of alpha (diversity within a sample measured by Observed, Chao, Shannon, and Simpson indices), beta diversities (diversity among different samples measured by Brady Curtis Diversity index), and differential abundance of bacteria at the genus level. Analyses were adjusted for gender, method of preservation (frozen vs preservative), and method of collection (mid-stream vs. catheter). RESULTS: Sixty-eight samples were analyzed (42 in "Tumor" vs 26 in "No Recurrent Tumor" groups). The median age was 70 years (IQR 64-74) and 85% were males. All patients in the "No Recurrent Tumor" group had non-muscle invasive bladder cancer and 85% received BCG compared to 69% and 43% for the "Tumor" group, respectively. There was no significant difference in alpha diversity (p > 0.05). Beta diversity was significantly different (p = 0.04). Veillonella and Bifidobacterium were more abundant in the "Tumor" group (> 2FC, p = 0.0002), while Escherichia-Shigella (> 2FC, p = 0.0002) and Helococcus (> 2FC, p = 0.0008) were more abundant in the "No Recurrent Tumor" group. CONCLUSION: Bladder cancer patients with no recurrence and/or progression exhibited a different urinary microbiome profile compared to those with tumors.

Synthesis and Study of Photothermal Properties of a Mixed-Valence Nanocluster CuI/CuII with Strong near-Infrared Optical Absorption Supported by 4-tert-Butylcalix[4]arene Ligand.

The first mixed-valence nanocluster CuI/CuII with the highest percentage of CuII ions was synthesized by using 4-tert-butylcalix[4]arene (Calix4), with the formula DMF2⊂[(CO3)2-@CuII6CuI3(Calix4)3Cl2(DMF)5(H3O)]•DMF (1), as a photothermal nanocluster. Its structure was characterized using single-crystal X-ray diffraction, Fourier-transform infrared spectroscopy, and powder X-ray diffraction. In addition, the charge state and chemical composition of the nanocluster were determined using electrospray ionization spectrometry and X-ray photoelectron spectroscopy (XPS) spectrum. The results of the XPS and X-ray crystallography revealed that there are two independent CuII and CuI centers in nanocluster 1 with the relative abundances of 66.6 and 33.3% for CuII and CuI, respectively. The nanocluster contains three four-coordinated CuI ions with a square-planar geometry and six five-coordinated CuII ions with a square pyramid geometry. The nanocluster shows strong near-infrared optical absorption in the solid state and excellent photothermal conversion ability (the equilibrium temperature ∼78.2 °C) with the light absorption centers in 286-917 nm over previous reported pentanucleus CuI4CuII clusters and CuII compounds.

Development and validation of nomogram to improve the specificity of multiparametric MRI for clinically significant prostate cancer.

OBJECTIVE: To develop and validate a nomogram to improve the specificity of prostate imaging reporting and data system (PI-RADS) on multiparametric magnetic resonance imaging (MRI) for clinically significant prostate cancer on targeted fusion biopsy. METHODS: A retrospective review of patients who underwent fusion biopsy for PI-RADS 3-5 lesions using UroNav and Artemis systems between 2016 and 2022 was performed. Patients were divided into those with CS disease on fusion biopsy (Gleason grade group ≥2) versus those without. Multivariable analysis was used to identify variables associated with CS disease. A 100-point nomogram was constructed, and ROC curve was generated. RESULTS: 1485 lesions (1032 patients) were identified, 510 (34%) were PI-RADS 3, 586 (40%) were PI-RADS 4, and 389 (26%) were PI-RADS 5. Of these, 11% of PI-RADS 3, 39% of PI-RADS 4, and 61% of PI-RADS 5 showed CS disease. CS disease was associated with older age (OR 1.04, 95% CI 1.02-1.06, p < 0.01), previous negative biopsy (OR 0.52, 95% CI 0.36-0.74, p < 0.01), presence of multiple PI-RADS 3-5 lesions (OR 0.61, 95% CI 0.45-0.83, p < 0.01), peripheral zone location (OR 1.88, 95% CI 1.30-2.70, p < 0.01), PSA density (OR 1.48 per 0.1 unit, 95% CI 1.33-1.64, p < 0.01), PI-RADS score 4 (OR 3.28, 95% CI 2.21-4.87, p < 0.01), and PI-RADS score 5 (OR 7.65, 95% CI 4.93-11.85, p < 0.01). Area under ROC curve was 82% for nomogram compared to 75% for PI-RADS score alone. CONCLUSION: We report a nomogram that combines PI-RADS score with other clinical parameters. The nomogram outperforms PI-RADS score for the detection of CS prostate cancer.

Are pangolins the intermediate host of the 2019 novel coronavirus (SARS-CoV-2)?

The outbreak of a novel corona Virus Disease 2019 (COVID-19) in the city of Wuhan, China has resulted in more than 1.7 million laboratory confirmed cases all over the world. Recent studies showed that SARS-CoV-2 was likely originated from bats, but its intermediate hosts are still largely unknown. In this study, we assembled the complete genome of a coronavirus identified in 3 sick Malayan pangolins. The molecular and phylogenetic analyses showed that this pangolin coronavirus (pangolin-CoV-2020) is genetically related to the SARS-CoV-2 as well as a group of bat coronaviruses but do not support the SARS-CoV-2 emerged directly from the pangolin-CoV-2020. Our study suggests that pangolins are natural hosts of Betacoronaviruses. Large surveillance of coronaviruses in pangolins could improve our understanding of the spectrum of coronaviruses in pangolins. In addition to conservation of wildlife, minimizing the exposures of humans to wildlife will be important to reduce the spillover risks of coronaviruses from wild animals to humans.

Dinuclear Nickel-Oxygen Cluster-Based Metal-Organic Frameworks with Octahedral Cages for Efficient Xe/Kr Separation.

Xe/Kr separation is industrially important but remains a daunting issue in chemical separations. Herein, a fluorinated metal-organic framework (MOF), [Ni2(µ2-O)(TFBPDC)(tpt)2]n (named JXNU-13-F), built from 3,3',5,5'-tetrakis(fluoro)biphenyl-4,4'-dicarboxylic (TFBPDC2-) and 2,4,6-tri(4-pyridinyl)-1,3,5-triazine (tpt) ligands is provided. JXNU-13-F displays a three-dimensional (3D) framework constructed from distorted octahedral cages and an impressive Xe capacity of 144 cm3 g-1 at 273 K and 1 bar, ranking among top MOFs. The high Xe uptake and moderate Xe/Kr adsorption selectivity endow JXNU-13-F with efficient Xe/Kr separation demonstrated by experimental column breakthrough tests. The comparative studies of gas adsorption between isostructural JXNU-13-F and JXNU-13 (the nonfluorinated analogue ([Ni2(µ2-O)(BPDC))(tpt)2]n with biphenyl-4,4'-dicarboxylic (BPDC2-)) revealed that the F groups serve as the innocent groups during the Xe and Kr adsorption in JXNU-13-F. Thus, a combination of highly hydrophobic and π-electron-rich pore surfaces made of aromatic rings with strong interactions with the Xe atom possessing large polarizability and appropriate pore sizes that match well Xe having a large atom diameter has resulted in high Xe uptake and effective Xe/Kr separation characteristics of JXNU-13-F.

Hexahydroazulene-2(1H)-one Sesquiterpenoids with Bridged Cyclobutane, Oxetane, and Tetrahydrofuran Rings from the Stems of Daphne papyracea with α-Glycosidase Inhibitory Activity.

Chemical investigation of an alcoholic extract from the stem of Daphne papyracea ("Xuehuagou") led to the isolation of the tetracyclic sesquiterpenoid daphnepapytone A (1), containing a unique caged skeleton with a cyclobutane ring having three tetrasubstituted chirality centers. Also isolated were new guaiane sesquiterpenoids, namely, daphnepapytones B-H (2-8), and one 1,5-diphenylpentanone 2-hydroxy-5-oxo-daphneone (9), together with 26 known compounds. The cyclic metabolites share a 5-isoprenyl-hexahydroazulene-2(1H)-one skeleton with different substitution patterns and a bridged cyclobutane, oxetane, or tetrahydrofuran ring. The planar structures and relative configuration of the new compounds were elucidated on the basis of spectroscopic analysis aided by DFT 13C NMR calculations. The absolute configurations of 1-7 were determined by X-ray single-crystal diffraction or TDDFT-ECD calculations. Daphnepapytones A and C (1 and 3), 2-hydroxy-5-oxodaphneone (9), daphnenone (10), daphneone (11), and 3-methyldaphneolone (12) showed α-glycosidase inhibitory activity, with IC50 values of 159.0, 102.3, 139.3, 43.3, 145.0, and 126.1 µM, respectively.

Slc25a5 regulates adipogenesis by modulating ERK signaling in OP9 cells.

BACKGROUND: A comprehensive understanding of the molecular mechanisms of adipogenesis is a critically important strategy for identifying new targets for obesity intervention. METHODS: Transcriptomic and lipidomic approaches were used to explore the functional genes regulating adipogenic differentiation and their potential mechanism of action in OP9 cells and adipose-derived stem cells. Oil Red O staining was used to detect oil droplets in adipocytes. RESULTS: RNA sequencing (RNA-seq) showed that Slc25a5 expression was significantly upregulated in adipogenic differentiation. Depletion of Slc25a5 led to the suppressed expression of adipogenesis-related genes, reduced the accumulation of triglycerides, and inhibited PPARγ protein expression. Moreover, the knockdown of Slc25a5 resulted in significant reduction of oxidative phosphorylation (OXPHOS) protein expression (ATP5A1, CQCRC2, and MTCO1) and ATP production. The RNA-seq and real-time quantitative polymerase chain reaction (RT-qPCR) results suggested that adipogenic differentiation is possibly mediated by ERK1/2 phosphorylation, and this hypothesis was confirmed by intervention with PD98059 (an ERK 1/2 inhibitor). CONCLUSIONS: This study indicates that Slc25a5 inhibits adipogenesis and might be a new therapeutic target for the treatment of obesity.

Ileal conduit versus neobladder: A propensity score-matched analysis of the effect on renal function.

OBJECTIVES: To analyze the long-term effects of continent (neobladder) compared with incontinent (ileal conduit) urinary diversion. METHODS: We carried out a retrospective review of our departmental database. Estimated glomerular filtration rate was calculated using the Chronic Kidney Disease Epidemiology Collaboration equation. Neobladder and ileal conduit patients were matched in a 1:2 ratio and a propensity score-matched analysis was carried out. Data were summarized using descriptive analysis. Trend plots were generated using baseline and follow-up creatinine values to compare estimated glomerular filtration rate at 3 months, then annually for 5 years. Variables associated with estimated glomerular filtration rate were assessed using multivariate linear analysis. RESULTS: Our cohort consisted of 137 patients (neobladder n = 50 and ileal conduit n = 87) with a median follow-up time of 3 years (interquartile range 1-7 years). The ileal conduit group had shorter operative times (352 vs 444 min, P < 0.01), intracorporeal diversions were more common (66% vs 44%, P = 0.01), had prior abdominal surgery (66% vs 38%, P < 0.01) and had radiation (9% vs 0%, P = 0.03). The neobladder group more commonly had recurrent urinary tract infections (22% vs 3%, P < 0.01) and a steeper decrease in estimated glomerular filtration rate in the first year. On multivariate linear analysis, age/year (-0.59), body mass index per kg/m2 (-0.52), preoperative estimated glomerular filtration rate per unit (0.51), recurrent urinary tract infections (-14.03) and time versus day 90 (year 1, -7.52; year 2, -9.06; year 3, -10.78) were significantly associated with estimated glomerular filtration rate. CONCLUSION: Ileal conduits and neobladders showed a similar effect on the estimated glomerular filtration rate up to 5 years after robot-assisted radical cystectomy. Recurrent urinary tract infections were associated with a worse estimated glomerular filtration rate.

Impact of neoadjuvant chemotherapy on survival and recurrence patterns after robot-assisted radical cystectomy for muscle-invasive bladder cancer: Results from the International Robotic Cystectomy Consortium.

OBJECTIVES: To analyze the impact of neoadjuvant chemotherapy on survival and recurrence patterns in muscle-invasive bladder cancer after robot-assisted radical cystectomy. MATERIALS AND METHODS: The International Robotic Cystectomy Consortium database was reviewed to identify patients who underwent robot-assisted radical cystectomy for muscle-invasive bladder cancer between 2002 and 2019. Survival outcomes, response rates, and recurrence patterns were compared between patients who received neoadjuvant chemotherapy and those who did not. Survival distributions were estimated using Kaplan-Meier analyses and compared using the log-rank test. RESULTS: A total of 1370 patients with muscle-invasive bladder cancer were identified, of whom 353 (26%) received neoadjuvant chemotherapy. After a median follow-up of 27 months, neoadjuvant chemotherapy recipients had higher 3-year overall survival (74% vs 57%; log-rank P < 0.01), 3-year cancer-specific survival (83% vs 73%; log-rank P = 0.03), and 3-year relapse-free survival (64% vs 48%; log-rank P < 0.01). Neoadjuvant chemotherapy was a predictor of higher overall survival, cancer-specific survival, and relapse-free survival in univariate but not multivariate analysis. Pathological downstaging (46% vs 23%; P < 0.01), complete responses (24% vs 8%; P < 0.01), and margin negativity (95% vs 91%; P < 0.01) at robot-assisted radical cystectomy were more common in the neoadjuvant chemotherapy group. Neoadjuvant chemotherapy recipients had lower distant (15% vs 22%; P < 0.01) but similar locoregional (12% vs 13%; P = 0.93) recurrence rates. CONCLUSIONS: In this analysis from a large international database, patients with muscle-invasive bladder cancer who received neoadjuvant chemotherapy before robot-assisted radical cystectomy had higher rates of survival, pathological downstaging, and margin-negative resections. They also experienced fewer distant recurrences.

Transcranial color Doppler sonography as an alternative tool for evaluation of terminal internal carotid artery steno-occlusion in moyamoya disease.

OBJECTIVE: To investigate color Doppler ultrasonography criteria and its value in assessing the steno-occlusion of the terminal internal carotid artery in moyamoya disease. METHODS: According to the digital subtraction angiography findings, patients were divided into three groups: occlusion of the terminal internal carotid artery, >50% stenosis, and ≤50% stenosis. We measured the terminal and proximal internal carotid artery parameters of each group using transcranial and cervical color Doppler sonography. RESULTS: Blood flow signals in 12 terminal internal carotid arteries were absent, which were verified as occlusion by digital subtraction angiography. Parameters were obtained in the remaining 159 terminal/proximal internal carotid arteries to predict cutoffs for >50% stenosis and occlusion. For >50% stenosis, mean flow velocity >88.50 cm/s in the terminal internal carotid artery could achieved the highest receiver operating characteristic curve area of 0.776 with 62.50% sensitivity, 88.15% specificity, 48.39% positive predictive values, 92.97% negative predictive value, and 84.27% overall accuracy. For the occlusion, mean flow velocity <49.50 cm/s in the terminal internal carotid artery achieve the highest receiver operating characteristic curve area of 0.734 with 55.56% sensitivity, 83.81% specificity, 63.83% positive predictive values, 78.57% negative predictive value, and 74.21% overall accuracy. The area under receiver operating characteristic curve cutoffs for other parameters were less than 0.7. CONCLUSION: Mean flow velocity of terminal internal carotid artery provides useful diagnostic information for detecting steno-occlusion in moyamoya disease. It may be used as an alternative tool to evaluate steno-occlusion of the terminal internal carotid artery in moyamoya disease.

Art Heals: Randomized Controlled Study Investigating the Effect of a Dedicated In-house Art Gallery on the Recovery of Patients After Major Oncologic Surgery.

INTRODUCTION: We sought to investigate the effect of exposure to a dedicated art gallery during the perioperative period on the recovery of patients undergoing major oncologic procedures. METHODS: Eighty patients were randomized into 2 arms; standard of care versus exposure to art. All patients completed a survey assessing their baseline art knowledge, and 4 poststudy validated questionnaires assessing their pain (Pain Rating Scale), hope (Herth Hope Index), anxiety (State-Trait Anxiety Inventory for Adults), and mental wellbeing (Warwick-Edinburgh Mental Wellbeing Scale). A linear model adjusted for baseline scores was run comparing the scores among the 2 study arms. Stepwise multivariate regression analyses were used to identify predictors of improved pain, hope, anxiety, and wellbeing. RESULTS: Both groups were comparable in terms of demographics, passion, and knowledge about art. There was no statistically significant difference in pain scores between the 2 groups. The exposure to art group experienced higher hope (2.4 points higher vs 0.05, P = 0.004), lower anxiety (8 points lower vs -0.9, P < 0.0001), and higher mental well-being scores (5.23 points higher vs -0.05, P < 0.0001) in comparison to the standard of care group. On multivariate analyses, exposure to art was significantly associated with improved hope, anxiety, and mental well-being after adjusting for patient and disease characteristics. CONCLUSIONS: Dedicated exposure to art was associated with improved hope, anxiety, and mental well-being of patients after major oncologic surgery.

Rates and Patterns of Recurrences and Survival Outcomes after Robot-Assisted Radical Cystectomy: Results from the International Robotic Cystectomy Consortium.

PURPOSE: There have been concerns about higher incidence of local and retroperitoneal recurrences after robot-assisted radical cystectomy compared to open radical cystectomy. We report and detail relapses following robot-assisted radical cystectomy using a multinational database. MATERIALS AND METHODS: A retrospective review of the International Robotic Cystectomy Consortium was performed. Data were reviewed for demographics, and perioperative, pathological and oncologic outcomes. Relapse rates and patterns were analyzed. Kaplan-Meier curves were used to depict relapse-free, local recurrence-free, distant metastasis-free and overall survival. Kaplan-Meier curves were further stratified by disease stage, lymph node status and margins. Multivariate stepwise Cox regression models were used to identify variables associated with relapse-free, local recurrence-free, distant metastasis-free and overall survival. RESULTS: Of 2,107 patients 521 (25%) experienced disease relapse. Mean age (SD) was 68±10 years with a median followup of 26 (IQR 11-55) months for the study cohort. Local recurrences were observed in 11% and distant metastases in 18%. Early oncologic failure (within 3 months) occurred in 4% of patients. The most common sites of local recurrence and distant metastasis were the pelvis (5%) and lungs (6%)/extrapelvic lymph nodes (5%), respectively. Abdominal wall/port site metastasis occurred in 1.2% and peritoneal carcinomatosis in 1.2%. Five-year relapse-free, local recurrence-free, distant metastasis-free and overall survival was 66%, 84%, 74% and 60%, respectively. Patients with higher disease stage, positive lymph nodes and positive soft tissue surgical margins demonstrated worse relapse-free, local recurrence-free, distant metastasis-free and overall survival (log rank p <0.01 for all comparisons). Multivariate regression models identified that node positive status and disease stage (pT3 or greater) were significantly associated with relapse-free, local recurrence-free, distant metastasis-free and overall survival (p <0.01). CONCLUSIONS: Disease stage remains the main variable associated with disease relapse and survival following radical cystectomy. Robot-assisted radical cystectomy was not associated with different patterns or higher relapse rates compared to historic open radical cystectomy data.

Substituent-mediated quantum interference toward a giant single-molecule conductance variation.

Quantum interference (QI) in single molecular junctions shows a promising perspective for realizing conceptual nanoelectronics. However, controlling and modulating the QI remains a big challenge. Herein, two-type substituents at different positions ofmeta-linked benzene, namely electron-donating methoxy (-OMe) and electron-withdrawing nitryl (-NO2), are designed and synthesized to investigate the substituent effects on QI. The calculated transmission coefficientsT(E) indicates that -OMe and -NO2could remove the antiresonance and destructive quantum interference (DQI)-induced transmission dips at position 2. -OMe could raise the antiresonance energy at position 4 while -NO2groups removes the DQI features. For substituents at position 5, both of them are nonactive for tuning QI. The conductance measurements by scanning tunneling microscopy break junction show a good agreement with the theoretical prediction. More than two order of magnitude single-molecule conductance on/off ratio could be achieved at the different positions of -NO2substituent groups at room temperature. The present work proves chemical substituents can be used for tuning QI features in single molecular junctions, which provides a feasible way toward realization of high-performance molecular devices.

Mutation at a new allele of the dysferlin gene causes Miyoshi myopathy: A case report.

Miyoshi myopathy (MM) is a rare autosomal recessive disorder caused by dysferlin (DYSF) gene mutation. Miyoshi myopathy-inducing mutation sites in the DYSF gene have been discovered worldwide. In the present study, a patient with progressive lower extremity weakness is reported, for which MM was diagnosed according to clinical manifestations, muscle biopsy, and immunohistochemistry. In addition, the DYSF gene of the patient and his parents was sequenced and analyzed and two heterozygous mutations of the DYSF gene (c.4756C> T and c.5316dupC) were discovered. The first mutation correlated with MM while the second was a new mutation. The patient was diagnosed with a compound heterozygous mutation. The mutation site is a new member of pathogenic MM gene mutations.

The Use of Continuous Blood Purification for the Treatment of Malignant Hyperthermia in an Infant.

BACKGROUND: Malignant hyperthermia (MH) is a rare and potentially life-threatening pharmacogenetic disorder encountered during general anesthesia, with the incidence higher in children than in adults. Dantrolene is the specific antagonist of MH, but it is not readily available in China, thus developing alternative treatment protocols is of great practical importance. CASE PRESENTATION: Herein, the authors report a two-month-old infant who underwent holmium laser epiglottis retrofitting through a bronchoscope, but developed limb muscular stiffness, tachypnea, tachycardia, and hyperthermia after sevoflurane exposure. After the diagnosis of MH, corresponding supportive treatment was implemented. Because there was no dantrolene available, continuous blood purification and mechanical ventilation were performed. A few days later, the boy recovered without any complications. CONCLUSION: Based on the authors' successful clinical practice, the authors consider continuous blood purification as a reliable treatment for MH. But its feasibility still needs to be clarified after multicenter clinical observations.

A patient with acute myeloid leukemia presented with a superior sagittal sinus thrombosis as the first manifestation of Trousseau syndrome.

This paper reports a case of Trousseau syndrome with intracranial venous sinus thrombosis as the first manifestation, which is relatively rare in the clinic. A 44-year-old female patient presented with a blurred vision of the visual substance for 2 months, and the condition was aggravated with a headache for 10 days. The final diagnosis was intracranial venous sinus thrombosis and acute myeloid leukemia subtype M2. Anticoagulant + intra-arterial regimen (cytarabine + igdabistar) was given, and the patient's headache and blurred vision were gradually restored. After 2 courses of chemotherapy, acute myeloid leukemia subtype M2 was in complete remission. After 6 months of follow-up, headache and the blurred vision disappeared, leukemia did not recur, limb vascular ultrasound was screened regularly, and no new vascular embolism disease occurred.