Publications by authors named "Rong He"

398 Publications

Genetic features and clinical outcomes of patients with isolated and comutated DDX41-mutated myeloid neoplasms.

Blood Adv 2021 Oct 13. Epub 2021 Oct 13.

Mayo Clinic, Rochester, Minnesota, United States.

DDX41 mutations (germline and somatic) are associated with late onset myelodysplastic syndromes/acute myeloid leukemia (MDS/AML). Myeloid neoplasms (MN) with germline predisposition was identified as a distinct category in the 2016 WHO classification revision, including MN with germline DDX41 mutation. We retrospectively analyzed the molecular findings and clinical characteristics of thirty-three DDX41-mutated (mDDX41) patients at our institution. We identified 14 distinct pathogenic DDX41 variants in 32 patients and 8 DDX41 variants of unknown significance (VUS) in 9 patients. Five (16%) patients had a second DDX41 somatic mutation p.R525H and 13 (40%) had at least one additional oncogenic co-mutation in other genes. The median age at the time of diagnosis was 66 years, with male predominance (72%) and the majority of patients had normal cytogenetics (91%). Two-year overall survival (OS) was 86% and 6 (21%) MDS/AML patients with relatively preserved hematopoietic function were observed without further intervention. In comparison to AML patients with prognostically more favorable subtypes [t(8;21), n=27 and inv(16), n=40], mDDX41 patients in our cohort showed similarly favorable OS. Our study highlights that mDDX41-MN patients often have an indolent course and mDDX41-AML has comparable OS to favorable-risk AML.
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http://dx.doi.org/10.1182/bloodadvances.2021005738DOI Listing
October 2021

Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings.

BMC Med Genomics 2021 09 1;14(1):215. Epub 2021 Sep 1.

Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, China.

Background: Deletion and duplication of the 3.7 Mb region in 17p11.2 result in two syndromes, Smith-Magenis syndrome and Potocki-Lupski syndrome, which are well-known development disorders. The purpose of this study was to determine the prevalence, genetic characteristics and clinical phenotypes of 17p11.2 deletion/duplication in Chinese children with development delay and in fetuses with potential congenital defects.

Methods: 7077 children with development delay and/or intellectual disability were screened by multiplex ligation-dependent probe amplification P245 assay. 7319 fetuses with potential congenital defects were tested using next generation sequencing technique.

Results: 417 of 7077 pediatric patients were determined to carry chromosome imbalance. 28 (28/7077, 0.4%) cases had imbalance at chromosome 17p11.2. Among them, 12 cases (42.9%) had heterozygous deletions and 16 cases (57.1%) had heterozygous duplications. The clinical phenotypes were variable, including neurobehavioral disorders, craniofacial/skeletal anomalies, immunologic defects, ocular problems and organ malformations. 263 of 7319 fetuses were recognized to have genomic copy number variations. Only 2 of them were found to harbor 17p11.2 imbalance. The fetus with deletion presented with ventricular septal defect and the fetus with duplication had cerebral ventricle dilation.

Conclusion: Our study highlights the phenotypic variability associated with 17p11.2 variations in China. The results further expand the phenotypic spectrum of SMS/PTLS and increase awareness of these disruptive mutations among clinicians.
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http://dx.doi.org/10.1186/s12920-021-01065-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411507PMC
September 2021

Introduction of cation vacancies and iron doping into TiO enabling efficient uranium photoreduction.

J Hazard Mater 2021 Aug 17;423(Pt A):126935. Epub 2021 Aug 17.

State Key Laboratory of Environment-friendly Energy Materials, National Co-innovation Center for Nuclear Waste Disposal and Environmental Safety, Sichuan Co-Innovation Center for New Energetic Materials, Nuclear Waste and Environmental Safety Key Laboratory of Defense, School of National Defence Science & Technology, Southwest University of Science and Technology, Mianyang, Sichuan 621010, PR China. Electronic address:

The reduction of U(VI) to U(IV) in wastewater by semiconductor photocatalysis has become a new highly efficient and low-cost method for U(VI) removal. However, due to the weak absorption of visible light led by wide band gap and low carrier utilization rate resulted from the severe electron-holes recombination, the photoreduction performance of U(VI) is limited. Herein, the Ti vacancies and doped Fe atoms were simultaneously introduced into TiO nanosheet (labeled as 4%Fe-TiO) as a highly active and stable catalysis for U(VI) photoreduction. Without adding any hole sacrifice agent, 4%Fe-TiO nanosheets achieved 99.7% removal efficiency for U(VI) within 120 min. And the 92.1% removal efficiency of U(VI) via 4%Fe-TiO nanosheets was still maintained after 5 cycles. Moreover, 4%Fe-TiO exhibited dramatic removal rate, 81.6% U(VI) in the solution was removed in 10 min. Further study on the mechanism showed that simultaneously introducing the Ti vacancies and doped Fe atoms in 4%Fe-TiO nanosheets improved the visible light utilization and decreased the recombination of photogenerated electron-hole pairs, contributing to the highly efficiency removal of U(VI).
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http://dx.doi.org/10.1016/j.jhazmat.2021.126935DOI Listing
August 2021

Geometric construction of viral genome space and its applications.

Comput Struct Biotechnol J 2021 27;19:4226-4234. Epub 2021 Jul 27.

Department of Mathematical Sciences, Tsinghua University, Beijing 100084, PR China.

Understanding the relationships between genomic sequences is essential to the classification and characterization of living beings. The classes and characteristics of an organism can be identified in the corresponding genome space. In the genome space, the natural metric is important to describe the distribution of genomes. Therefore, the similarity of two biological sequences can be measured. Here, we report that all of the viral genomes are in 32-dimensional Euclidean space, in which the natural metric is the weighted summation of Euclidean distance of k-mer natural vectors. The classification of viral genomes in the constructed genome space further proves the convex hull principle of taxonomy, which states that convex hulls of different families are mutually disjoint. This study provides a novel geometric perspective to describe the genome sequences.
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http://dx.doi.org/10.1016/j.csbj.2021.07.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8353408PMC
July 2021

Metal-free 2D/2D CN/GO nanosheets with customized energy-level structure for radioactive nuclear wastewater treatment.

J Hazard Mater 2021 Aug 13;422:126912. Epub 2021 Aug 13.

State Key Laboratory of Environment-friendly Energy Materials, National Co-innovation Center for Nuclear Waste Disposal and Environmental Safety, Nuclear Waste and Environmental Safety Key Laboratory of Defense, Southwest University of Science and Technology, Mianyang 621010, Sichuan, China. Electronic address:

How to efficiently treat radioactive uranium-containing nuclear wastewater is one of the significant challenges to ensure the safety of nuclear technology and to avoid environmental pollution. Here we firstly prepare the metal-free 2D/2D CN/GO nanosheets, and customize a type-II heterojunction based on the band bending theory to achieve enhanced uranium extraction capacity via synergistic adsorption photoreduction engineering. The structure of CN is explained by electron energy loss spectroscopy and synchrotron-based near-edge X-ray absorption fine structure. And CN with larger π-conjugated structure expands the light response range to 747 nm, which is about 1.67 times that of CN. Further, we also use density functional theory to prove the existence of alternating energy levels so that photogenerated electrons could be continuously injected into the surface of GO to ensure the effective separation of electron-hole pairs and increase the material activity. The results show that the removal ratio of uranium by 2D/2D CN/GO heterojunction is achieved as high as 96.1% even at a low uranium concentration of 10 ppm, and reached 93.4% after exposure to gamma-ray. This work will lay a foundation for customizing the energy band structure of nonmetal-based 2D/2D nanohybrids and enriching uranium-containing wastewater through adsorption photoreduction engineering in the future.
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http://dx.doi.org/10.1016/j.jhazmat.2021.126912DOI Listing
August 2021

Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes.

Am J Hematol 2021 Nov 27;96(11):1450-1460. Epub 2021 Aug 27.

Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.

Germline predisposition syndromes (GPS) result from constitutional aberrations in tumor suppressive and homeostatic genes, increasing risk for neoplasia in affected kindred. In this study, we present clinical and genomic data on 144 Mayo Clinic patients with GPS; 59 evaluated prospectively using an algorithm-based diagnostic approach in the setting of a dedicated GPS/ inherited bone marrow failure syndrome (IBMFS) clinic. Seventy-two (50%) patients had IBMFS (telomere biology disorders-32,Fanconi anemia-18, Diamond Blackfan Anemia - 11, congenital neutropenia-5, Schwachman-Diamond Syndrome-5 and Bloom Syndrome-1), 27 (19%) had GPS with antecedent thrombocytopenia (RUNX1-FPD-15, ANKRD26-6, ETV6-2, GATA1-1, MPL-3), 28 (19%) had GPS without antecedent thrombocytopenia (GATA2 haploinsufficiency-16, DDX41-10, CBL-1 and CEBPA-1) and 17 (12%) had general cancer predisposition syndromes (ataxia telangiectasia-7, heterozygous ATM variants-3, CHEK2-2, TP53-2, CDK2NA-1, NF1-1 and Nijmegen Breakage Syndrome-1). Homozygous and heterozygous ATM pathogenic variants were exclusively associated with lymphoproliferative disorders (LPD), while DDX41 GPS was associated with LPD and myeloid neoplasms. The use of somatic NGS-testing identified clonal evolution in GPS patients, with ASXL1, RAS pathway genes, SRSF2 and TET2 being most frequently mutated. Fifty-two (91%) of 59 prospectively identified GPS patients had a change in their management approach, including additional GPS-related screening in 42 (71%), referral for allogenic HSCT workup and screening of related donors in 16 (27%), medication initiation and selection of specific conditioning regimens in 14 (24%), and genetic counseling with specific intent of fertility preservation and preconceptual counseling in 10 (17%) patients; highlighting the importance of dedicated GPS screening, detection and management programs for patients with hematological neoplasms.
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http://dx.doi.org/10.1002/ajh.26321DOI Listing
November 2021

Antihypertensive activity of the ACE-renin inhibitory peptide derived from protein.

Food Funct 2021 Oct 4;12(19):8994-9006. Epub 2021 Oct 4.

College of Food Science and Engineering, Collaborative Innovation Center for Modern Grain Circulation and Safety, Key Laboratory of Grains and Oils Quality Control and Processing, Nanjing University of Finance and Economics, Nanjing 210023, China.

(MO) leaf is a potential plant protein resource with high nutritional and medicinal value. The study aims to investigate the hypotensive activity and stability of MO leaf peptides. MO leaf protein was extracted and then hydrolyzed with Alcalase to produce the MO leaf protein hydrolysate (MOPH). The MOPH was separated into peptide fractions with different molecular weights by membrane ultrafiltration. The MOPH and ultrafiltration fractions were evaluated for antihypertensive activity. Inhibition of the angiotensin-converting enzyme (84.71 ± 0.07%) and renin (43.72 ± 0.02%) was significantly higher for <1 kDa peptides when compared to other fractions. Oral administration of the <1 kDa component in spontaneously hypertensive rats positively lowers the blood pressure (∼17 mmHg). The <1 kDa component was isolated and purified subsequently; the final active component was identified by mass spectrometry and amino acid sequence analysis. Two highly active ACE (angiotensin-converting enzyme) and renin dual inhibitory peptides Leu-Gly-Phe-Phe (LGF) and Gly-Leu-Phe-Phe (GLFF) were obtained. The two peptides exhibited a good dual inhibitory activity of ACE and renin with IC50 values of LGF (0.29 ± 0.13 mM, 1.88 ± 0.08 mM) and GLFF (0.31 ± 0.04 mM, 2.80 ± 0.08 mM). Furthermore, models, LGF and GLFF significantly reduced the systolic blood pressure (19.4 mmHg; 18.2 mmHg) and diastolic blood pressure (12 mmHg; 13.8 mmHg) of SHRs (spontaneously hypertensive rats). The peptide transmembrane transport experiments and simulated gastrointestinal digestion experiments with LGF and GLFF showed that they can resist gastrointestinal digestion in a complete form. Thus, bioactive peptides from MO leaf may possess the potential to be used for treating hypertension in humans.
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http://dx.doi.org/10.1039/d1fo01103kDOI Listing
October 2021

Disease outcomes and biomarkers of progression in smouldering Waldenström macroglobulinaemia.

Br J Haematol 2021 Oct 2;195(2):210-216. Epub 2021 Aug 2.

Division of Hematology, Mayo Clinic, Rochester, MN, USA.

Patients with asymptomatic/smouldering Waldenström macroglobulinaemia (SWM) have a variable risk of progression to active WM. Our study evaluated 143 patients with SWM consecutively seen between January 1996 and December 2013. With a median [95% confidence interval (CI)] follow-up of 9·5 [8·1-11·5] years, the cumulative rate of progression was 11% at 1 year, 38% at 3 years and 55% at 5 years. On multivariate analysis, haemoglobin (Hb) ≤123 g/l [risk ratio (RR) 2·08; P = 0·009] and β -microglobulin (β M) ≥2·7 µg/ml (RR 2·0; P = 0·01) were independent predictors of a shorter time-to-progression (TTP) to active WM. Patients with myeloid differentiation factor 88 wild type (MYD88 ) genotype (n = 11) demonstrated a trend toward shorter TTP [median (95% CI) 1·7 (0·7-8·7) vs. 4·7 (2·4-7·7) years for the MYD88 cohort, n = 42; P = 0·11]. The presence of C-X-C chemokine receptor type 4 (CXCR4) mutation (n = 29) did not impact the TTP (median: 3 years for CXCR4 vs. 5·6 years for CXCR4 , P = 0·34). The overall survival (OS) for patients with SWM (median: 18·1 years) was comparable to an age-, sex- and calendar year-matched USA population (median: 20·3 years, P = 0·502). In conclusion, Hb and β M at diagnosis represent independent predictors of progression to active WM. Comparable survival of SWM and a matched USA population argues against pre-emptive intervention in this patient population.
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http://dx.doi.org/10.1111/bjh.17691DOI Listing
October 2021

Heavy metal fixation of lead-contaminated soil using Morchella mycelium.

Environ Pollut 2021 Nov 27;289:117829. Epub 2021 Jul 27.

School of Life Science and Engineering, Southwest University of Science and Technology, Mianyang, Sichuan, 621010, PR China; State Key Laboratory of Environment-friendly Energy Materials, National Co-innovation Center for Nuclear Waste Disposal and Environmental Safety, Sichuan Co-Innovation Center for New Energetic Materials, Nuclear Waste and Environmental Safety Key Laboratory of Defense, School of National Defence Science & Technology, Southwest University of Science and Technology, Mianyang, Sichuan, 621010, PR China. Electronic address:

With the exploitation of lead-zinc deposits, lead content around mining areas has seriously exceeded the recommended level. The most challenging problem is how to reduce lead contamination in soil efficiently. In this study, we developed a method to remediate lead-contaminated soil by adding Morchella mycelium. First, we compared the repair effects of mycelium and hyperaccumulator by conducting pot experiments. Then, we investigated the mechanism through which mycelium repairs lead-contaminated soil by conducting simulation experiments. Results showed that using mycelium was a more efficient way to repair soil than using hyperaccumulator. Compared with the untreated group, mycelium reduced the lead content of crops by 34.83 % and raised dry biomass by 134.05 % when lead addition was 800 mg/kg. After mycelium fixation, soil catalase, urease, cellulase, and sucrase activities were significantly enhanced, and the bioavailability of lead decreased significantly. The lead solution exposure simulation test showed that Morchella mycelium immobilized lead due to its extracellular secretions. That is, mycelium secreted metabolites and lead to form salt crystals, reducing bioavailable lead content. In addition, Morchella mycelium restoration may effectively improve soil fertility and increase crop yields. Thus, mycelium may be used successfully in alternative green repair methods for environmental heavy metal remediation.
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http://dx.doi.org/10.1016/j.envpol.2021.117829DOI Listing
November 2021

Knockdown of Lingo-1 by short hairpin RNA promotes cognitive function recovery in a status convulsion model.

3 Biotech 2021 Jul 16;11(7):339. Epub 2021 Jun 16.

Department of Neurology, Children's Hospital of Chongqing Medical University, Chongqing, 400014 China.

The purpose of this study was to determine the dynamic changes of the Nogo-66 receptor 1 (NgR1) pathway during epileptogenesis and the potential beneficial of leucine-rich repeat and Ig-like domain-containing Nogo receptor interacting protein 1 (Lingo-1) inhibition on epilepsy rats. The hippocampal changes of the NgR1 pathway during epileptogenesis were determined by western blot analysis of multiple proteins, including neurite outgrowth inhibitor protein A (NogoA), myelin-associated glycoprotein (MAG), oligodendrocyte-myelin glycoprotein (OMgp), Lingo-1, ras homolog family member A (RhoA) and phosphorylated RhoA (p-RhoA). Lentivirus-mediated short hairpin RNA (shRNA) was used to knockdown the hippocampal expression of Lingo-1. Novel object recognition (NOR) test and Morris Water Maze (MWM) test were employed to determine the cognitive functions of rats. Hematoxylin and eosin (H&E) staining, protein expressions of RhoA, p-RhoA, and myelin basic protein (MBP), as well as convulsion susceptibility test were additionally performed. Our results showed that the NgR1 pathway was activated during epileptogenesis, characterized by up-regulation of NogoA, MAG, OMgp, and Lingo-1, which was especially significant at the chronic phase of epilepsy. The cognitive function, convulsion susceptibility and hippocampal neuronal survival of rats were impaired at the chronic phase of epileptogenesis but all improved by Lingo-1 inhibition; besides, the hippocampal protein expressions of p-RhoA and MBP were significantly decreased at the chronic phase of SC rats but increased after Lingo-1 inhibition. Our results demonstrated that Lingo-1 shRNA can improve epilepsy-induced cognitive impairment, which may be related with the pro-myelination and neuroprotection effects of Lingo-1 inhibition.
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http://dx.doi.org/10.1007/s13205-021-02876-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8209134PMC
July 2021

Internal Standardization of the Interpretation and Reporting of Sequence Variants in Hematologic Neoplasms.

Mol Diagn Ther 2021 07 14;25(4):517-526. Epub 2021 Jun 14.

Department of Laboratory Medicine and Pathology, Molecular Hematology Laboratory, Mayo Clinic, Rochester, MN, USA.

Introduction: Accurate classification of somatic genetic alterations detected by next-generation sequencing (NGS) assays is of paramount importance to ensure the provision of high-quality clinical data. Clinical significance of variants can be assessed and tiered based on guidelines from the Association for Molecular Pathology (AMP), the American Society of Clinical Oncology, and the College of American Pathology for the interpretation of somatic sequence variants identified in cancer.

Methods: We sought to develop a formal structured approach for the classification of somatic variants in hematologic neoplasms, to account for both a variant's clinical significance and its ability to drive tumorigenesis, by adapting elements from these existing guidelines. However, we additionally utilized key criteria from the American College of Medical Genetics/AMP standards for variant reporting to focus evaluation into specific categories of evidence and to gauge the effect of a given variant on tumorigenesis.

Results: The combined approach was applied to the annotation of 87 variants identified by a targeted NGS panel for myeloid neoplasms. In the application of our variant evaluation, we classified 2/87 variants as benign, 6/87 as likely benign, 56/87 as variants of unknown significance (VUS), 13/87 variants as likely pathogenic, and 10/87 variants as pathogenic.

Conclusion: Well-established oncogenic alterations were accurately classified as pathogenic. Although there is no defined benchmark for the remaining variants, drawing from two existing guidelines enabled the creation of a modified curation process for variant interpretation that emphasizes systematic review of relevant evidence.
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http://dx.doi.org/10.1007/s40291-021-00540-8DOI Listing
July 2021

Comparison Between 360° 3-D Transvaginal Ultrasound and Magnetic Resonance Imaging for Assessment of Vaginal Invasion in Cervical Cancer: A Preliminary Report.

Ultrasound Med Biol 2021 08 19;47(8):2250-2257. Epub 2021 May 19.

Department of Ultrasound, The Affiliated Cancer Hospital, School of Medicine, University of Electronic Science and Technology of China, Sichuan Cancer Hospital & Institute, Chengdu 610041, China.

Our goal was to estimate the agreement between 360° 3-D transvaginal ultrasound (TVUS) and magnetic resonance imaging (MRI) of the vaginal invasion in cervical cancer and to discuss the clinical value of 360° 3-D TVUS. A total of 72 patients with untreated cervical cancer were included in the work. The percentage agreement between 2-D TVUS and MRI in assessing vaginal invasion (yes or no) was 77.8% (kappa, 0.400) and that between 360° 3-D TVUS and MRI was 97.2% (kappa, 0.873). The results of 2-D TVUS demonstrated the following agreement with those of MRI: 77.8% for the upper two-thirds of the vagina (kappa, 0.538), 83.3% for the lower third of the vagina (kappa, 0.471). The results of 360° 3-D TVUS demonstrated the following agreement with those of MRI: 95.8% for the upper two-thirds of the vagina (kappa, 0.907), 98.6% for the lower third of the vagina (kappa, 0.961). The results of 360° 3-D TVUS demonstrated good agreement with MRI, which is less costly and more readily available than MRI and should be considered in the pre-treatment work-up for cervical cancer.
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http://dx.doi.org/10.1016/j.ultrasmedbio.2021.04.013DOI Listing
August 2021

Single-atom Fe-N site for the hydrogenation of nitrobenzene: theoretical and experimental studies.

Dalton Trans 2021 Jun;50(23):7995-8001

Key Laboratory of Functional Molecular Solids, Ministry of Education, Anhui Province Key Laboratory of Optoelectric Materials Science and Technology and Anhui Laboratory of Molecule-Based Materials, Anhui Normal University, Wuhu, 241002, China.

The hydrogenation of nitrobenzene to aniline is an important process in the industry of fine chemicals, but developing inexpensive catalysts with expected activity and selectivity still remains a challenge. By using density functional theory calculations, we demonstrated that the isolated Fe atom not only can weaken the adsorption of reactants and reaction intermediates as compared to Fe nanoparticles, but also remarkably decrease the reaction barrier for the hydrogenation of nitrobenzene to aniline. Thus, the Fe single-atom (Fe SA) catalyst is considered as an ideal catalyst for this reaction. This theoretical prediction has been subsequently confirmed by experimental results obtained for the Fe SAs loaded on N-doped hollow carbon spheres (Fe SAs/NHCSs) which achieved a conversion of 99% with a selectivity of 99% for the hydrogenation of nitrobenzene. The results significantly outperformed the Fe nanoparticles for this reaction. This work provides theoretical insight for the rational design of new catalytic systems with excellent catalytic properties.
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http://dx.doi.org/10.1039/d1dt01227dDOI Listing
June 2021

Chinese stroke survivors' perceptions of participation in exercise or sitting Tai Chi.

Eur J Cardiovasc Nurs 2021 May 19. Epub 2021 May 19.

School of Nursing and Midwifery, Queen's University Belfast, Belfast, UK.

Aims: Exercise promotes functional recovery among stroke survivors and is recommended to be commenced as soon as is feasible. However, little is known about stroke survivors' perception of participation in exercise or sitting Tai Chi, a more culturally appropriate and popular movement in China. To explore Chinese stroke survivors' perceptions of participation in exercise or sitting Tai Chi.

Methods And Results: Face-to-face semi-structured interviews and content analysis of transcripts were conducted with a purposive sample of 30 stroke survivors. The qualitative study explored perceptions of post-stroke participation in exercise or sitting Tai Chi. The consolidated criteria for reporting qualitative research checklist was used to report findings. Perceived facilitators of exercise participation were healthcare professionals' encouragement and recommendations, family and peer support and survivors' motivation, intention, and self-perceived benefits. Perceived barriers were fear of falling, physical discomfort, and challenges in standing. Despite some reservations, most participants were willing to try sitting Tai Chi.

Conclusions: Encouragement and support, motivation, and perceived benefits were important for exercise participation after stroke. With the premise that all medical and nursing students in China are trained in Tai Chi, for stroke survivors with no access to formal exercise programmes, sitting Tai Chi may offer an appropriate alternative.
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http://dx.doi.org/10.1093/eurjcn/zvab036DOI Listing
May 2021

Genetic and Clinical Studies of Patients With Increased Multinucleated Megakaryocytes in Bone Marrow as an Isolated Finding: A Diagnostic Pitfall for Myelodysplastic Syndrome.

Am J Surg Pathol 2021 11;45(11):1534-1540

Division of Hematopathology, Mayo Clinic, Rochester, MN.

The presence of increased multinucleated megakaryocytes (aka osteoclast-like) is considered a dysplastic feature in myelodysplastic syndrome; however, its clinical significance in isolation is uncertain. Herein, we report the clinicopathologic and genetic features of 18 such cases of 40,539 bone marrow biopsies spanning 10 years. All 18 patients had ≥25% multinucleated megakaryocytes in otherwise normal bone marrow biopsies, which were evaluated for plasma cell neoplasms (n=9), lymphoma (n=4), or anemia/neutropenia (n=5). None of the 17 patients tested showed acquired cytogenetic abnormalities. Sixteen patients underwent targeted gene panel next-generation sequencing: 9 patients had no pathogenic mutations; 3 harbored a single pathogenic mutation with variant allele frequencies of 7.5%, 7.6%, and 10.7%, likely representing clonal hematopoiesis of indeterminate potential; 1 had 2 pathogenic mutations, 1 of which had a variant allele frequency >20%. Fourteen of 18 patients had a follow-up period >6 months (median: 36.5 mo, range: 7 to 110 mo) and no patients developed a new-onset cytopenia, a progressive cytopenia, or a myeloid neoplasm. The patient with 2 mutations had persistent anemia, worrisome for an emerging MDS. However, given the absence of thrombocytopenia, increased multinucleated megakaryocytes in this patient could be an unrelated incidental finding. Our study indicates that increased multinucleated megakaryocytes as an isolated finding is a rare phenomenon, and this sole morphologic finding is not diagnostic of myelodysplastic syndrome. Diagnostic approaches in the presence of increased multinucleated megakaryocytes are proposed based on different clinical and pathologic scenarios.
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http://dx.doi.org/10.1097/PAS.0000000000001732DOI Listing
November 2021

Pathologic Spectrum and Molecular Landscape of Myeloid Disorders Harboring SF3B1 Mutations.

Am J Clin Pathol 2021 Sep;156(4):679-690

Division of Hematopathology, Mayo Clinic College of Medicine, Rochester, MN, USA.

Objectives: SF3B1 mutations are the most common mutations in myelodysplastic syndromes (MDS). The International Working Group for the Prognosis of MDS (IWG-PM) recently proposed SF3B1-mutant MDS (SF3B1-mut-MDS) as a distinct disease subtype. We evaluated the spectrum and molecular landscape of SF3B1-mutated myeloid disorders and assessed the prognostication in MDS harboring SF3B1 mutations (MDS-SF3B1).

Methods: Cases were selected by retrospective review. Clinical course and laboratory and clinical findings were collected by chart review. SF3B1-mut-MDS was classified following IWG-PM criteria.

Results: SF3B1 mutations were identified in 75 of 955 patients, encompassing a full spectrum of myeloid disorders. In MDS-SF3B1, Revised International Prognostic Scoring System (IPSS-R) score greater than 3 and transcription factor (TF) comutations were adverse prognostic markers by both univariate and multivariate analyses. We confirmed the favorable outcome of IWG-PM-defined SF3B1-mut-MDS. Interestingly, it did not show sharp prognostic differentiation within MDS-SF3B1.

Conclusions: SF3B1 mutations occur in the full spectrum of myeloid disorders. We independently validated the favorable prognostication of IWG-PM-defined SF3B1-mut-MDS. However it may not provide sharp prognostication within MDS-SF3B1 where IPSS-R and TF comutations were prognostic-informative. Larger cohort studies are warranted to verify these findings and refine MDS-SF3B1 prognostication.
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http://dx.doi.org/10.1093/ajcp/aqab010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8427737PMC
September 2021

Distinct immune signatures in chronic lymphocytic leukemia and Richter syndrome.

Blood Cancer J 2021 05 10;11(5):86. Epub 2021 May 10.

Division of Hematology, Mayo Clinic, Rochester, MN, USA.

Richter syndrome (RS) refers to transformation of chronic lymphocytic leukemia (CLL) to an aggressive lymphoma, most commonly diffuse large B-cell lymphoma. RS is known to be associated with a number of genetic alterations such as TP53 and NOTCH1 mutations. However, it is unclear what immune microenvironment changes are associated with RS. In this study, we analyzed expression of immune checkpoint molecules and infiltration of immune cells in nodal samples, and peripheral blood T-cell diversity in 33 CLL and 37 RS patients. Compared to CLL, RS nodal tissue had higher PD-L1 expression in histiocytes and dendritic cells (median 16.6% vs. 2.8%, P < 0.01) and PD1 expression in neoplastic B cells (median 26.0% vs. 6.2%, P < 0.01), and higher infiltration of FOXP3-positive T cells (median 1.7% vs. 0.4%, P < 0.01) and CD163-positive macrophages (median 23.4% vs. 9.1%, P < 0.01). In addition, peripheral blood T-cell receptor clonality was significantly lower in RS vs. CLL patients (median [25th-75th], 0.107 [0.070-0.209] vs. 0.233 [0.111-0.406], P = 0.046), suggesting that T cells in RS patients were significantly more diverse than in CLL patients. Collectively these data suggest that CLL and RS have distinct immune signatures. Better understanding of the immune microenvironment is essential to improve immunotherapy efficacy in CLL and RS.
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http://dx.doi.org/10.1038/s41408-021-00477-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110984PMC
May 2021

Protease Secretion Visualization and Metastatic Lymph Nodes Imaging a Cell Membrane-Anchored Upconversion Nanoprobe.

Anal Chem 2021 05 3;93(19):7258-7265. Epub 2021 May 3.

State Key Laboratory of Analytical Chemistry for Life Science, School of Chemistry and Chemical Engineering, Nanjing University, Nanjing 210023, China.

Matrix metalloproteinase (MMP) secretion is highly associated with tumor invasion and metastasis; therefore, monitoring MMP secretion is important for disease progression study and therapy choosing. Though working well for intracellular MMP imaging, the performance of current MMP detection probes is impaired in secretion monitoring due to the diffusion of MMP in an extracellular environment after secretion and low secreted amount. Here, we design a cell membrane-anchored ratiometric upconversion nanoprobe (UCNPs-Cy3/Pep-QSY7/Ab) for MMP secretion visualization. Anti-EGFR is functionalized on the nanoprobe to provide specific recognition to tumor cells and guarantee fast response to MMP2 in the local place of secretion. MMP-responsive cleavage of Pep-QSY7 results in Cy3 luminescence recovery at 580 nm, which is ratioed over an internal standard of UCNP emission at 654 nm for MMP2 detection. The presented cell membrane-anchored ratiometric upconversion nanoprobe demonstrated that satisfactory results for monitoring of MMP2 secretion from MDA-MB-231 cells and MCF-7 cells, as well as imaging of metastatic lymph nodes, would provide a universal platform for protease secretion study and contribute to tumor invasiveness assessment.
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http://dx.doi.org/10.1021/acs.analchem.1c00469DOI Listing
May 2021

Case Report: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants.

Front Pediatr 2021 14;9:656584. Epub 2021 Apr 14.

Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.

A 2-month-old male infant presented with white colored stools 1 month after birth. There was no jaundice of the skin, mucous membrane, or sclera; his liver was enlarged (4 cm below the ribs), and his liver function tests showed slightly elevated total bilirubin (TB), direct bilirubin (DB), and total bile acid (TBA). An abdominal doppler ultrasound showed no signs of biliary atresia. Genetic testing revealed a hemizygous mutation site (c.223C>T) in exon 3 and exon 2-3 heterozygous deletion mutation. The infant's stool turned yellow after oral administration of pancreatic tablets. Finally, the infant was diagnosed with cystic fibrosis (CF). Review of literature revealed five children (including the infant in this case study) with CF who presented with white stool. All five children had anemia, four had edema and hypoproteinemia, five had changes in stool color (it was pistachio-green color in two patients, pale colored in one, acholic stool in one, and white stool in one), two had cholestasis, one infant had delayed meconium discharge, and three children had delayed growth and hepatomegaly. Two children had an abnormal sweat test, one had a F508del compound heterozygous mutation, and one had three mutation sites (C.214G>G/A, P.A72T; C.650A>A/G, P.E217G, and C.3406G>G/A, P. A1136T), which was a compound heterozygous mutation. So, CF could be included in the differential diagnosis of infants with white stool. Genetic testing could confirm an early diagnosis of CF. Pancreatic replacement therapy has been shown to be beneficial for improving the digestive function.
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http://dx.doi.org/10.3389/fped.2021.656584DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8081048PMC
April 2021

Evolution and Efficiency Assessment of Pesticide and Fertiliser Inputs to Cultivated Land in China.

Int J Environ Res Public Health 2021 04 4;18(7). Epub 2021 Apr 4.

Agro-Environmental Protection Institute, Ministry of Agriculture and Rural Afairs, Tianjin 300071, China.

Excessive use of pesticides and fertilisers has been a key issue limiting sustainable agricultural development. China is a typical pesticide- and chemical-fertiliser-dependent agricultural production area. We have matched the target indicators related to sustainable agricultural development (SDG1 and SDG2) and analysed the gap between China and four developed countries in terms of fertiliser and pesticide use intensity and efficiency from 2002 to 2016. We have used an improved Logarithmic Mean Divisia Index model and cluster analysis to identify the factors and effects driving increased pesticide and fertiliser inputs in China, and we discuss the exploratory effects of different provinces in reducing pesticide and fertiliser application and increasing efficiency. The findings reveal that (1) China is a typical pesticide- and fertiliser-dependent agricultural production area. The average combined fertiliser application efficiency in China from 2002 to 2016 was only 28% of that of the Netherlands, and the country's average combined pesticide application efficiency was only 35% of that of the USA. (2) The most important of the three main drivers of the increase in pesticide and fertiliser inputs in China is the value added of the primary industry, contributing 56% for the period 2007-2016. (3) Further analysis at the provincial level according to four types-high-intensity high-yield type, high-intensity low-yield type, low-intensity high-yield type, and low-intensity low-yield type-clarified the provinces that should be focused on at the national level in terms of pesticide and fertiliser application reduction and efficiency increase in the future.
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http://dx.doi.org/10.3390/ijerph18073771DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8038477PMC
April 2021

Assessment of fixed-duration therapies for treatment-naïve Waldenström macroglobulinemia.

Am J Hematol 2021 08 22;96(8):945-953. Epub 2021 May 22.

Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.

Comparative data guiding initial therapy for Waldenström macroglobulinemia (WM), an infrequently encountered non-Hodgkin lymphoma, are sparse. We evaluated three commonly used rituximab-based frontline regimens: rituximab-bendamustine (R-Benda); dexamethasone, rituximab, cyclophosphamide (DRC); and bortezomib, dexamethasone, rituximab (BDR) in 220 treatment-naïve patients with WM, seen at Mayo Clinic between November 1, 2000 and October 31, 2019. The median follow-up was 4.5 (95%CI: 4-5) years. The R-Benda cohort (n = 83) demonstrated superior overall response rate (ORR: 98%), in comparison to DRC (n = 92, ORR: 78%) or BDR (n = 45, ORR: 84%) cohorts, p = 0.003. Similarly, longer progression-free survival (PFS) was evident with R-Benda use [median 5.2 vs. 4.3 (DRC) and 1.8 years (BDR), p < 0.001]. The time-to-next therapy (TTNT) favored R-Benda [median, not-reached, 4.4 (DRC) and 2.6 years (BDR), p < 0.001). These endpoints were comparable between the DRC and BDR cohorts. Overall survival (OS) was similar across the three cohorts, p = 0.77. In a subset analysis of 142 patients genotyped for MYD88 mutation, the ORR, PFS and TTNT were unaffected by the patients' MYD88 signature within each cohort. In conclusion, ORR, PFS and TTNT with R-Benda are superior compared to DRC or BDR in treatment-naïve patients with active WM. The patient outcomes with any one of these three regimens are unaffected by the MYD88 mutation status.
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http://dx.doi.org/10.1002/ajh.26210DOI Listing
August 2021

Surgical treatment for prostatic utricle cyst in children: A single-center report of 15 patients.

Int J Urol 2021 06 29;28(6):689-694. Epub 2021 Mar 29.

Department of Urology, Shanghai Children's Medical Center affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Objectives: To report our single-center experience of the management of children with prostatic utricle cysts.

Methods: We retrospectively analyzed 15 children who were incidentally found to have a prostatic utricle cyst and were admitted to our department between October 2013 and August 2020. Clinical characteristics and management were collected and catalogued.

Results: Recurrent genitourinary tract infections were the most frequent complaint, and two-thirds of patients also had hypospadias. A connection between the posterior urethra and the prostatic utricle cyst was found in all cases. Two patients directly had their progressively enlarging prostatic utricle cyst resected laparoscopically. Endoscopic techniques were used in 13 patients, two of whom underwent laparoscopic excision for repeated symptoms. The mean (range) follow-up period was 34.9 (2-82) months. No recurrences were observed in four patients who underwent prostatic utricle cyst excision and eight patients who received endoscopic treatment. Three patients had recurrent symptoms after endoscopic treatment and were managed by nonsurgical treatment.

Conclusions: Prostatic utricle cyst is a rare disease which can cause recurrent genitourinary tract infections. Extra attention should be paid to evaluation for prostatic utricle cyst in children with external genital anomalies. Retrograde urethrogram and magnetic resonance imaging are useful tools with which to distinguish prostatic utricle cyst from other cystic lesions that are located in the midline pelvis in male patients. Individualized treatment is appropriate when considering fertility preservation, recurrences and malignancy. Laparoscopic excision is feasible for symptomatic and large prostatic utricle cyst. Regular long-term monitoring is recommended for all patients with prostatic utricle cyst.
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http://dx.doi.org/10.1111/iju.14543DOI Listing
June 2021

Study of monoglycerides enriched with unsaturated fatty acids at sn-2 position as oleogelators for oleogel preparation.

Food Chem 2021 Aug 11;354:129534. Epub 2021 Mar 11.

College of Food Science and Engineering, Collaborative Innovation Center for Modern Grain Circulation and Safety, Key Laboratory of Grains and Oils Quality Control and Processing, Nanjing University of Finance and Economics, Nanjing 210003, People's Republic of China. Electronic address:

The effect of using highly unsaturated 2-monoglycerides as oleogelators on the properties of soybean oil oleogels designed to eliminate saturated and trans fatty acids was investigated in this study. We adopted a novel two-step synthesis aiming to increase the yield of the 2-monoglycerides. The optimal synthesis conditions were a substrate weight ratio of 2:1 (w/w), 10% Lipozyme 435 (w/w total reactants), and 4 h of reaction time at room temperature. Under these conditions, the 2-monoglyceride yield (40.69%) increased by 10% compared to that of the conventional synthesis route. Additionally, soybean oil oleogels prepared using 10% 2-monoglycerides with or without rice bran wax were systematically characterized by polarized light microscopy, a texture analyzer, XRD spectroscopy, and rheometry. Comparative studies indicated that a combination of rice bran wax and 2-monoglycerides had synergistic effects on gel properties. A mixture of 4% rice bran wax and 6% 2-monoglycerides was found to provide better oleogels.
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http://dx.doi.org/10.1016/j.foodchem.2021.129534DOI Listing
August 2021

Mexiletine Shortened QT Interval and Reduced Ventricular Arrhythmias in a Pedigree of Type 2 Long QT Syndrome Combined with Left Ventricular Non-Compaction.

Int Heart J 2021 Mar 17;62(2):427-431. Epub 2021 Mar 17.

Department of Cardiology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University.

In this study, we present a case of a 22-year-old female with a family history of syncope, suffering from recurrent syncope since childhood. She had an obvious prolonged QTc interval of up to 651 ms, a bifid T wave pattern on electrocardiogram, and torsade de pointes, corresponding to a syncope episode. Additionally, her echocardiogram showed left ventricular non-compaction in the apex. After treatment with mexiletine, the QTc interval has been observed to shorten immediately, and the T wave morphology recovered. A similar effect was also observed in her mother and young sister. Administration of propranolol prolonged her QTc interval. Target sequencing of candidate genes revealed a missense mutation in the pore area of the hERG protein, coded by KCNH2. We diagnosed this as a case of type 2 long QT syndrome in which mexiletine could be effective in shortening the QTc interval.
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http://dx.doi.org/10.1536/ihj.20-518DOI Listing
March 2021

Psychometric properties of the Chinese version of the Trunk Impairment Scale in people with a stroke.

Health Qual Life Outcomes 2021 Mar 10;19(1):85. Epub 2021 Mar 10.

School of Nursing and Midwifery, Queen's University Belfast, Belfast, UK.

Background: The Trunk Impairment Scale (TIS) has been translated into Chinese, but the psychometric properties of the Chinese version of the TIS (TIS-C) have not yet been established. We aimed to examine the reliability and validity of the TIS-C for assessing sitting balance among Chinese people with a stroke.

Methods: A descriptive, cross-sectional design was used. We recruited a convenience sample of 170 subacute stroke patients aged 18 years or over from the neurology departments of four traditional Chinese medicine hospitals in China. Patients completed the TIS-C, the Berg Balance Scale and the Modified Barthel Index. The psychometric properties of the TIS-C were examined to establish test-retest reliability, internal consistency, equivalence, and content, criterion, and construct validity.

Results: Intraclass correlation coefficients for inter-rater and intra-rater reliability ranged from 0.75 to 0.89 and from 0.90 to 0.97, respectively. The TIS-C Cronbach α was 0.86. The strong correlation between the total score of the TIS-C and the Berg Balance Scale (r = 0.81, p < 0.001) or Modified Barthel Index (r = 0.84, p < 0.001) suggested good concurrent and convergent validity, respectively. Known-group validity was supported by the significant difference (p < 0.001) in TIS-C scores between participants with mild and moderate stroke.

Conclusions: The TIS-C is a valid and reliable tool for assessing static and dynamic sitting balance as well as coordination of trunk movement among stroke survivors with mild and moderate stroke.
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http://dx.doi.org/10.1186/s12955-021-01730-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7948338PMC
March 2021

Efficient Photocatalytic Extraction of Uranium over Ethylenediamine Capped Cadmium Sulfide Telluride Nanobelts.

ACS Appl Mater Interfaces 2021 Mar 8;13(10):11968-11976. Epub 2021 Mar 8.

State Key Laboratory of Environment-friendly Energy Materials, National Co-innovation Center for Nuclear Waste Disposal and Environmental Safety, Sichuan Institute of Military and Civilian Integration, Nuclear Waste and Environmental Safety Key Laboratory of Defense, School of Life Science and Engineering, Joint Laboratory for Extreme Conditions Matter Properties, Southwest University of Science and Technology, Mianyang, 621010, China.

The photocatalysts for hexavalent uranium (U(VI)) reduction suffered from the low uranium uptake capacity and weak long-wavelength light absorption. Herein, we synthesized the CdSTe nanobelts capped by ethylenediamine (EDA), which provided amino groups as the adsorption sites. With the increase of the Te content, the amino groups on the CdSTe nanobelts decreased because of the variation of the electron density of Cd, whereas the light adsorption was enhanced due to the narrowed bandgap. In photocatalytic reduction of U(VI), the CdSTe-EDA nanobelts exhibited a considerable U(VI) removal ratio of 97.4% with a remarkable equilibrium U(VI) extraction amount on per weight unit of the adsorbent () of 836 mg/g. The bandgap structure and Fourier transform infrared spectroscopy (FT-IR) spectra analysis revealed that the optimum photocatalytic activity of CdSTe nanobelts was achieved at a 5% of Te doping, which balanced the factors of amino groups and bandgap. This adsorption-photoreduction process offers an ultrahigh uranium extraction capacity over wide uranium concentrations.
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http://dx.doi.org/10.1021/acsami.0c22800DOI Listing
March 2021

Mayo Clinic experience with 1123 adults with acute myeloid leukemia.

Blood Cancer J 2021 03 2;11(3):46. Epub 2021 Mar 2.

Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.

Between 2004 and 2017, a total of 1123 adult patients (median age 65 years; 61% males) with newly diagnosed acute myeloid leukemia (AML), not including acute promyelocytic leukemia, were seen at the Mayo Clinic. Treatment included intensive (n = 766) or lower intensity (n = 144) chemotherapy or supportive care (n = 213), with respective median survivals of 22, 9, and 2 months (p < 0.01). Intensive chemotherapy resulted in complete remission (CR) and CR with incomplete count recovery (CRi) rates of 44 and 33%, respectively, with no difference in survival outcome between the two (p = 0.4). Allogeneic hematopoietic stem cell transplant (AHSCT) was documented in 259 patients and provided the best survival rate (median 55 months; p < 0.01). After a median follow-up of 13 months, 841 (75%) deaths were recorded. Multivariate analysis identified age >60 years (HR 2.2, 1.9-2.6), adverse karyotype (HR 2.9, 1.9-4.9), intermediate-risk karyotype (HR 1.6, 1.02-2.6), post-myeloproliferative neoplasm AML (HR 1.9, 1.5-2.4), and other secondary AML (HR 1.3 (1.1-1.6) as risk factors for shortened survival. These risk factors retained their significance after inclusion of FLT3/NPM1 mutational status in 392 informative cases: FLT3+NPM1- (HR 2.8, 1.4-5.6), FLT3+/NPM+ (HR 2.6 (1.3-5.2), and FLT3-NPM1- (HR 1.8, 1.0-3.0).
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http://dx.doi.org/10.1038/s41408-021-00435-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7925511PMC
March 2021

Myelodysplastic syndrome with t(6;9)(p22;q34.1)/DEK-NUP214 better classified as acute myeloid leukemia? A multicenter study of 107 cases.

Mod Pathol 2021 06 8;34(6):1143-1152. Epub 2021 Feb 8.

Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

t(6;9)(p22;q34.1)/DEK-NUP214 is a recurrent genetic abnormality that occurs in 1-2% of patients with acute myeloid leukemia (AML), and rarely in myelodysplastic syndrome (MDS). It has been suggested by others that all myeloid neoplasms with t(6;9)/DEK-NUP214 may be considered as AML, even when blast count is <20%. In this study, we compared the clinicopathologic features of 107 patients with myeloid neoplasms harboring t(6;9)/DEK-NUP214: 33 MDS and 74 AML. Compared with patients with AML, patients with MDS were older (p = 0.10), had a lower white blood cell count (p = 0.0017), a lower blast count in the peripheral blood (p < 0.0001) and bone marrow (p < 0.0001), a higher platelet count (p = 0.022), and a lower frequency of FLT3-ITD mutation (p = 0.01). In addition, basophilia was not a common feature in the patients of this cohort. Although there was no difference in overall survival between MDS and AML patients (p = 0.18) in the entire cohort, the survival curves did show a trend toward favorable survival in MDS patients. Multivariate analyses showed that initial diagnosis of MDS vs. AML and allogeneic hematopoietic stem cell transplantation were prognostic factors for survival of patients with t(6;9)/DEK-NUP214 (p = 0.008 and p < 0.0001, respectively). Our data suggest that MDS with t(6;9)/DEK-NUP214 is prognostically not equivalent to AML with t(6;9)/DEK-NUP214. These data also show that stem cell transplantation greatly improves the survival of MDS and AML patients with myeloid neoplasms associated with t(6;9)/DEK-NUP214.
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http://dx.doi.org/10.1038/s41379-021-00741-wDOI Listing
June 2021
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