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1.
J Infect Dis ; 229(1): 117-121, 2024 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-37565805

RESUMO

Using a prospective, observational cohort study during the post-"dynamic COVID-zero" wave in China, we estimated short-term relative effectiveness against Omicron BA.5 infection of inhaled aerosolized adenovirus type 5-vectored ancestral strain coronavirus disease 2019 (COVID-19) vaccine as a second booster dose approximately 1 year after homologous boosted primary series of inactivated COVID-19 vaccine compared with no second booster. Participants reported nucleic acid or antigen test results weekly until they tested positive or completed predesignated follow-up. After excluding participants infected <14 days after study entry, relative effectiveness among the 6576 participants was 61% in 18- to 59-year-olds and 38% in ≥60-year-olds and was sustained for 12 weeks.


Assuntos
Vacinas contra COVID-19 , COVID-19 , Humanos , COVID-19/prevenção & controle , Estudos Prospectivos , Eficácia de Vacinas , China/epidemiologia , Adenoviridae/genética
2.
J Infect Dis ; 228(3): 261-269, 2023 08 11.
Artigo em Inglês | MEDLINE | ID: mdl-37005365

RESUMO

BACKGROUND: China has been using inactivated coronavirus disease 2019 (COVID-19) vaccines as primary series and booster doses to protect the population from severe to fatal COVID-19. We evaluated primary and booster vaccine effectiveness (VE) against Omicron BA.2 infection outcomes. METHODS: This was a 13-province retrospective cohort study of quarantined close contacts of BA.2-infected individuals. Outcomes were BA.2 infection, COVID-19 pneumonia or worse, and severe/critical COVID-19. Absolute VE was estimated by comparison with an unvaccinated group. RESULTS: There were 289 427 close contacts ≥3 years old exposed to Omicron BA.2 cases; 31 831 turned nucleic acid amplification test-positive during quarantine, 97.2% with mild or asymptomatic infection, 2.6% with COVID-19 pneumonia, and 0.15% with severe/critical COVID-19. None died. Adjusted VE (aVE) against any infection was 17% for primary series and 22% when boosted. Primary series aVE in adults >18 years was 66% against COVID-19 pneumonia or worse and 91% against severe/critical COVID-19. Booster dose aVE was 74% against pneumonia or worse, and 93% against severe/critical COVID-19. CONCLUSIONS: Inactivated COVID-19 vaccines provided modest protection from infection, very good protection against pneumonia, and excellent protection against severe/critical COVID-19. Booster doses are necessary to provide strongest protection.


Assuntos
Vacinas contra COVID-19 , COVID-19 , Adulto , Humanos , Pré-Escolar , COVID-19/prevenção & controle , Estudos Retrospectivos , China/epidemiologia , Infecções Assintomáticas
3.
Int J Cancer ; 152(10): 2123-2133, 2023 05 15.
Artigo em Inglês | MEDLINE | ID: mdl-36594582

RESUMO

To reduce the risk of relapse after allogeneic hematopoietic stem cell transplantation (allo-HSCT), there have been continuing efforts to optimize the conditioning regimens. Our study aimed to analyze the risk factors associated with the relapse of relapsed/refractory (R/R), high-risk acute myeloid leukemia (AML) and high-risk myelodysplastic syndrome (MDS) post-transplant and the efficacy of a new conditioning regimen involving decitabine and cladribine. Clinical data of 125 patients with R/R AML, high-risk AML and high-risk MDS who underwent allo-HSCT were collected. In addition, 35 patients with R/R AML, high-risk AML and high-risk MDS received treatment with a new conditioning regimen including decitabine and cladribine. Cox regression analysis was used to identify risk factors associated with OS, RFS and relapse. Among 125 patients who underwent allo-HSCT, CR before allo-HSCT and matched sibling donors were independent protective factors for OS. DNMT3A abnormality was an independent risk factor for both relapse and RFS. Among 35 patients who received a new conditioning regimen containing decitabine and cladribine, only six patients relapsed and 1-year cumulative incidence of relapse was 11.7%. Moreover, this new regimen showed efficient MRD clearance early after allo-HSCT. The combined decitabine- and cladribine-based conditioning regimen showed a low relapse rate and a high survival without an increased incidence of GVHD or adverse effects and thus has potential for use in allo-HSCT for R/R AML, high-risk AML and high-risk MDS.


Assuntos
Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Leucemia Mieloide Aguda , Síndromes Mielodisplásicas , Humanos , Cladribina , Decitabina , Doença Crônica , Recidiva , Estudos Retrospectivos
4.
Ann Hematol ; 102(8): 2015-2023, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37193759

RESUMO

A retrospective analysis was conducted based on the clinical data from 60 patients older than 16 years from January 2016 to January 2021. All the patients were newly diagnosed with severe aplastic anemia (SAA) with an absolute neutrophil count (ANC) of zero. We compared the hematological response and survival of haploidentical-allogeneic hematopoietic stem cell transplantation (HID-HSCT) (n = 25) and intensive immunosuppressive therapy (IST) (n = 35) treatments. At six months, the overall response rate and complete response were significantly higher in the HID-HSCT group than those in the IST group (84.0% vs. 40.0%, P = 0.001; 80.0% vs. 17.1%, P = 0.001). With a median follow-up of 18.5 months (4.3~30.8 months), patients in the HID-HSCT group had longer overall survival and event-free survival (80.0% vs. 47.9%, P = 0.0419; 79.2% vs. 33.5%, P = 0.0048). These data suggested that HID-HSCT might be an effective alternative treatment option for adult patients with SAA with an ANC of zero, which requires further validation in an additional prospective study.


Assuntos
Anemia Aplástica , Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Adulto , Humanos , Estudos Retrospectivos , Neutrófilos , Estudos Prospectivos , Doença Enxerto-Hospedeiro/etiologia , Terapia de Imunossupressão , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Condicionamento Pré-Transplante
5.
Helicobacter ; 28(6): e13015, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37634236

RESUMO

BACKGROUND AND AIM: The prevalence of antibiotic resistance for Helicobacter pylori (H. pylori) has been increasing over the year, making it more difficult for traditional empirical therapy to successfully eradicate H. pylori. Thus, tailored therapy (TT) guided by molecular-based antibiotic susceptibility testing (AST) has been frequently recommended. We conducted a single-arm meta-analysis to determine the efficacy of tailored therapy guided by molecular-based AST. METHODS: A systematic literature review was performed on multiple databases, and studies on molecular-based TT were included. The eradication rates of TT by intention-to-treat (ITT) and per-protocol (PP) analyses were pooled respectively. RESULTS: A total of 35 studies from 31 literature (4626 patients) were included in the single-arm meta-analysis. Overall, the pooled eradication rate of TT was 86.9% (95% CI:84.7%-89.1%) by the ITT analysis, and 91.5% (95% CI:89.8%-93.2%) by PP analysis. The pooled eradication rates of first-line TT and rescue TT were 86.6% and 85.1% by ITT analysis and 92.0% and 87.9% by PP analysis, respectively. When tailored rescue therapy was based on the genotypic resistance to at least four antibiotics, the pooled eradication rates reached 89.4% by ITT analysis and 92.1% by PP analysis. For genotype-susceptive strains, the pooled eradication rate of TT with targeted antibiotics was 93.1% (95% CI:91.3%-94.9%), among which the pooled eradication rate of tailored bismuth quadruple therapy was the highest (94.3%). Besides, the eradication rate of 7-day TT or tailored triple therapy without bismuth for genotype-susceptive strains could both reach more than 93.0%. CONCLUSION: Tailored therapy guided by molecular-based AST can achieve somewhat ideal therapeutic outcomes. TT with a 7-day duration or without bismuth for genotype-susceptible strains can achieve good eradication efficacy. The effectiveness of TT can be improved to some extent by expanding the coverage of AST or by adding bismuth.


Assuntos
Infecções por Helicobacter , Helicobacter pylori , Humanos , Infecções por Helicobacter/tratamento farmacológico , Helicobacter pylori/genética , Bismuto/uso terapêutico , Metronidazol/uso terapêutico , Quimioterapia Combinada , Antibacterianos/uso terapêutico , Genótipo , Resultado do Tratamento , Amoxicilina/uso terapêutico , Inibidores da Bomba de Prótons/uso terapêutico
6.
J Transl Med ; 20(1): 31, 2022 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-35033104

RESUMO

BACKGROUND: Preoperative diagnosis of pheochromocytoma (PHEO) accurately impacts preoperative preparation and surgical outcome in PHEO patients. Highly reliable model to diagnose PHEO is lacking. We aimed to develop a magnetic resonance imaging (MRI)-based radiomic-clinical model to distinguish PHEO from adrenal lesions. METHODS: In total, 305 patients with 309 adrenal lesions were included and divided into different sets. The least absolute shrinkage and selection operator (LASSO) regression model was used for data dimension reduction, feature selection, and radiomics signature building. In addition, a nomogram incorporating the obtained radiomics signature and selected clinical predictors was developed by using multivariable logistic regression analysis. The performance of the radiomic-clinical model was assessed with respect to its discrimination, calibration, and clinical usefulness. RESULTS: Seven radiomics features were selected among the 1301 features obtained as they could differentiate PHEOs from other adrenal lesions in the training (area under the curve [AUC], 0.887), internal validation (AUC, 0.880), and external validation cohorts (AUC, 0.807). Predictors contained in the individualized prediction nomogram included the radiomics signature and symptom number (symptoms include headache, palpitation, and diaphoresis). The training set yielded an AUC of 0.893 for the nomogram, which was confirmed in the internal and external validation sets with AUCs of 0.906 and 0.844, respectively. Decision curve analyses indicated the nomogram was clinically useful. In addition, 25 patients with 25 lesions were recruited for prospective validation, which yielded an AUC of 0.917 for the nomogram. CONCLUSION: We propose a radiomic-based nomogram incorporating clinically useful signatures as an easy-to-use, predictive and individualized tool for PHEO diagnosis.


Assuntos
Neoplasias das Glândulas Suprarrenais , Feocromocitoma , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Neoplasias das Glândulas Suprarrenais/cirurgia , Humanos , Imageamento por Ressonância Magnética/métodos , Nomogramas , Feocromocitoma/diagnóstico por imagem , Feocromocitoma/cirurgia , Estudos Retrospectivos
7.
Scand J Immunol ; 95(1): e13115, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34758123

RESUMO

Wiskott-Aldrich syndrome (WAS) also called the eczema-thrombocytopenia-immunodeficiency syndrome is a primary immunodeficiency disease with X-linked recessive inheritance caused by mutations in the WAS protein (WASp) gene and characterized by thrombocytopenia with reduced platelet volume, eczema, immunodeficiency, and increased risk of malignant tumours. The mutations will lead to separate WAS severity which can be typical severe 'classical' WAS or less severe 'non-classical' WAS. This article will review and analyse clinical and immune characteristics of five unrelated Chinese families harbouring classical and non-classical WAS. The expression of WASp was detected in the peripheral blood monocytes (PBMC) by flow cytometry, and five mutations were found by WAS gene sequencing, one of which had not been reported in the literature, namely frameshift mutation c.1240_1247delCCACTCCC (p. P414Sfs*41).


Assuntos
Leucócitos Mononucleares/metabolismo , Mutação/genética , Proteína da Síndrome de Wiskott-Aldrich/genética , Síndrome de Wiskott-Aldrich/imunologia , China , Análise Mutacional de DNA , Eczema , Família , Feminino , Humanos , Lactente , Leucócitos Mononucleares/imunologia , Masculino , Volume Plaquetário Médio , Trombocitopenia , Síndrome de Wiskott-Aldrich/genética
8.
Cytotherapy ; 24(8): 841-849, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35256277

RESUMO

B cell acute lymphocytic leukemia (B-ALL) patients who have relapsed after hematopoietic stem cell transplantation (HSCT) have a poor prognosis, and there is currently no standard approach available. Chimeric antigen receptor (CAR)-T cells induce high rates of initial response and long-term remission among patients with B-cell malignancies, especially B-ALL. Meanwhile, sequential infusion of CAR19/22 T cells has been proven to be effective at preventing tumor immune escape. In the present study, we retrospectively analyzed 23 B-ALL patients who relapsed after allogeneic (allo)-HSCT and underwent sequential infusion of CAR19/22 T cells, including nine donor-derived and 14 recipient-derived, in our center from July 2016 to July 2020, to evaluate the safety and efficacy of the cocktail of two single-specific CAR-T cells in B-ALL patients relapsed after transplantation. Except for one patient refusing evaluation, the remaining 22 patients achieved minimal residual disease (MRD)-negative complete remission within 30 days after CAR-T infusion. Most toxicities were slight and reversible. The estimated 12-month progression-free survival (PFS) rate was 59.2% (95% confidence interval [CI], 35.9% to 76.5%), and the estimated 12-month overall survival (OS) rate was 67.4% (95% CI, 43.2% to 83.1%). Only two patients had CD19-negative recurrence. In addition, early recurrence after transplantation, graft-versus-host disease (GVHD) and severe infection after CAR-T infusion were poor prognostic factors. Our results indicate that sequential infusion of CAR19/22 T cells is safe and effective for relapsed ALL patients after HSCT. This trial was registered at www.chictr.org.cn as #ChiCTR-OPN-16008526.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Leucemia-Linfoma Linfoblástico de Células Precursoras , Receptores de Antígenos Quiméricos , Doença Aguda , Antígenos CD19 , Transplante de Células-Tronco Hematopoéticas/métodos , Humanos , Imunoterapia Adotiva/métodos , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Estudos Retrospectivos , Linfócitos T
9.
J Wound Care ; 31(Sup10): S7-S15, 2022 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-36240874

RESUMO

OBJECTIVE: Regular retrospective analysis is necessary for potential improvement in clinical practice for the treatment of hard-to-heal wounds. Comorbidities and outcomes have demonstrated spatial and temporal diversity, emphasising the importance of updates in epidemiology. The complexity of healing hard-to-heal wounds has long been known, and so we sought evidence-based improvement on the current principles of treatment. METHOD: Demographic and clinical information of patients from the WoundCareLog database was collected. Patients who met the inclusion criteria and completed follow-up after treatment were included. Comorbidities were diagnosed and classified into eight categories based on ICD-10. We compared the demographic and aetiological characteristics between patients with and without comorbidities by t-test and Chi-squared test. The impact of comorbidities on wound healing were evaluated with a multivariate Cox model. RESULTS: A total of 2163 patients met the inclusion criteria and were enrolled, of whom 37.0% were aged 61-80 years, 36.0% were aged 41-60 years and 60.8% were male. The lower extremities and buttocks were the most commonly affected areas with hard-to-heal wounds. Non-traumatic wounds accounted for 66.6% of cases, and infection, pressure and diabetes were the most common causes. Paralysis and diabetes were the most important factors which led to a prolonged healing process and inferior clinical outcomes. CONCLUSION: Comorbidities of hard-to-heal wounds were treated as separate contributors and their weighted effect on outcome was calculated through correlation analysis. Paralysis and diabetes were the most unfavourable comorbidities affecting the treatment of non-traumatic hard-to-heal wounds. Our study highlighted the priority of comorbidity treatment through data-driven approaches. It provides potential value in developing better public health strategies and preventive medicine.


Assuntos
Paralisia , Cicatrização , China/epidemiologia , Comorbidade , Feminino , Humanos , Masculino , Prevalência , Prognóstico , Estudos Retrospectivos
10.
Int J Cancer ; 2021 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-33837553

RESUMO

Relapsed/refractory acute myeloid leukemia (R/R-AML) is characterized by a high incidence, short survival and poor prognosis. Presently, no unified effective reinduction chemotherapy regimen has been developed. Therefore, the use of reinduction chemotherapy regimens before allogeneic hematopoietic stem cell transplantation (allo-HSCT) is controversial. Our study aims to analyze the prognostic factors of R/R-AML and to evaluate the efficacy of the regimen involved decitabine, cladribine, idarubicin or homoharringtonine, and cytarabine (DCIA/DCHA). Clinical and survival data of 112 R/R-AML patients were obtained. Among the 102 R/R-AML patients that were treated with conventional regimens, we found that poor prognosis was related to a greater proportion of bone marrow blasts (>70%) and not achieving complete remission (non-CR) after the first reinduction chemotherapy. Hematopoietic stem cell transplantation (of which 89.47% was allo-HSCT) following CR after the first reinduction chemotherapy often improves the prognosis. Of the 10 R/R-AML patients that were treated with the DCIA/DCHA regimen, nine patients achieved CR or complete response with incomplete hematopoietic recovery (CRi) after one course of chemotherapy. The median overall survival of the 10 patients was 10.14 (1.23-29.13) months. In conclusion, non-CR was associated with poor prognosis in R/R-AML. Therefore, intensive reinduction chemotherapy should be selected to achieve CR. This creates conditions for allo-HSCT and improves prognosis of R/R-AML patients. The DCIA/DCHA regimen showed good efficacy and tolerable adverse reactions in R/R-AML treatment. This combination may be used as a bridging regimen for allo-HSCT in R/R-AML.

11.
Kidney Int ; 100(4): 870-880, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34129883

RESUMO

Urolithiasis is a common urological disease, and treatment strategy options vary between different stone types. However, accurate detection of stone composition can only be performed in vitro. The management of infection stones is particularly challenging with yet no effective approach to pre-operatively identify infection stones from non-infection stones. Therefore, we aimed to develop a radiomic model for preoperatively identifying infection stones with multicenter validation. In total, 1198 eligible patients with urolithiasis from three centers were divided into a training set, an internal validation set, and two external validation sets. Stone composition was determined by Fourier transform infrared spectroscopy. A total of 1316 radiomic features were extracted from the pre-treatment Computer Tomography images of each patient. Using the least absolute shrinkage and selection operator algorithm, we identified a radiomic signature that achieved favorable discrimination in the training set, which was confirmed in the validation sets. Moreover, we then developed a radiomic model incorporating the radiomic signature, urease-producing bacteria in urine, and urine pH based on multivariate logistic regression analysis. The nomogram showed favorable calibration and discrimination in the training and three validation sets (area under the curve [95% confidence interval], 0.898 [0.840-0.956], 0.832 [0.742-0.923], 0.825 [0.783-0.866], and 0.812 [0.710-0.914], respectively). Decision curve analysis demonstrated the clinical utility of the radiomic model. Thus, our proposed radiomic model can serve as a non-invasive tool to identify urinary infection stones in vivo, which may optimize disease management in urolithiasis and improve patient prognosis.


Assuntos
Nomogramas , Urolitíase , Humanos , Aprendizado de Máquina , Prognóstico , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Urolitíase/diagnóstico por imagem
12.
Br J Haematol ; 193(3): 619-627, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33690890

RESUMO

Glucocorticoids (GC) are used as the first-line treatment of immune thrombocytopenia (ITP), but 10-20% of patients are insensitive to them. Regulatory T cells (Tregs) can maintain immune tolerance in autoimmune diseases. The present research pooled 55 patients with newly diagnosed ITP and 44 healthy volunteers from seven hospitals. All patients received GC treatment and were divided into GC-sensitive and GC-insensitive groups according to the curative effect after 2 weeks of treatment. The levels of lymphocyte subgroups and Tregs were recorded. As the results indicated, the levels of CD8+ CD25str+ Tregs in the GC-sensitive group were significantly higher than that of the GC-insensitive group (P = 0·005). The optimal critical value of CD8+ CD25str+ Tregs to distinguish GC sensitivity was 0·09%. With GC therapy the level of CD45RO+ /CD8+ CD25str+ Tregs (activated type) decreased after treatment (P = 0·02) and the level of CD45RO- /CD8+ CD25str+ Tregs (initial type) increased slightly (P = 0·11). There were no obvious changes in the level of CD4+ Tregs. These findings support that the level of CD8+ CD25str+ Tregs and its subgroups have a predictive value in judging the sensitivity to GC among patients with ITP. Trial registration: www.chictr.org.cn; ChiCTR-OON-17014165.


Assuntos
Linfócitos T CD8-Positivos/metabolismo , Glucocorticoides/administração & dosagem , Púrpura Trombocitopênica Idiopática/sangue , Púrpura Trombocitopênica Idiopática/tratamento farmacológico , Linfócitos T Reguladores/metabolismo , Adulto , Feminino , Seguimentos , Humanos , Contagem de Linfócitos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
13.
J Allergy Clin Immunol ; 146(1): 137-146.e3, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32470486

RESUMO

BACKGROUND: Accumulating evidence proposed Janus-associated kinase (JAK) inhibitors as therapeutic targets warranting rapid investigation. OBJECTIVE: This study evaluated the efficacy and safety of ruxolitinib, a JAK1/2 inhibitor, for coronavirus disease 2019. METHODS: We conducted a prospective, multicenter, single-blind, randomized controlled phase II trial involving patients with severe coronavirus disease 2019. RESULTS: Forty-three patients were randomly assigned (1:1) to receive ruxolitinib plus standard-of-care treatment (22 patients) or placebo based on standard-of-care treatment (21 patients). After exclusion of 2 patients (1 ineligible, 1 consent withdrawn) from the ruxolitinib group, 20 patients in the intervention group and 21 patients in the control group were included in the study. Treatment with ruxolitinib plus standard-of-care was not associated with significantly accelerated clinical improvement in severe patients with coronavirus disease 2019, although ruxolitinib recipients had a numerically faster clinical improvement. Eighteen (90%) patients from the ruxolitinib group showed computed tomography improvement at day 14 compared with 13 (61.9%) patients from the control group (P = .0495). Three patients in the control group died of respiratory failure, with 14.3% overall mortality at day 28; no patients died in the ruxolitinib group. Ruxolitinib was well tolerated with low toxicities and no new safety signals. Levels of 7 cytokines were significantly decreased in the ruxolitinib group in comparison to the control group. CONCLUSIONS: Although no statistical difference was observed, ruxolitinib recipients had a numerically faster clinical improvement. Significant chest computed tomography improvement, a faster recovery from lymphopenia, and favorable side-effect profile in the ruxolitinib group were encouraging and informative to future trials to test efficacy of ruxolitinib in a larger population.


Assuntos
Infecções por Coronavirus/tratamento farmacológico , Inibidores de Janus Quinases/uso terapêutico , Pneumonia Viral/tratamento farmacológico , Pirazóis/uso terapêutico , Idoso , Betacoronavirus , COVID-19 , Infecções por Coronavirus/mortalidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nitrilas , Pandemias , Pneumonia Viral/mortalidade , Pirimidinas , SARS-CoV-2 , Método Simples-Cego , Resultado do Tratamento , Tratamento Farmacológico da COVID-19
14.
Hemoglobin ; 45(5): 318-321, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35514176

RESUMO

ß-Thalassemia (ß-thal), one of the most common form of single-gene inheritable blood diseases in the world, is highly prevalent in southern China, especially in the Guangxi Zhuang Autonomous Region. To update the ß-thal mutation spectrum in this region, we performed hematological and genetic analyses on 888 ß-thal major (ß-TM), ß-thal intermedia (ß-TI) and ß-thal carrier patients, aged 0-15 years old, from different parts of Guangxi Province. We identified 55 genotypes and 18 ß-thal mutations. The codons 41/42 (-TTCT) (HBB: c.126_129delCTTT) (43.97%), codon 17 (A>T) (HBB: c.52A>T) (25.43%), -28(A>G) (HBB: c.-78A>G) (8.18%), IVS-II-654 (C>T) (HBB: c.316-197C>T) (7.85%) and codon 26 (G>A) (HBB: c.79G>A) (5.02%) were the five most common, accounting for more than 90.0%. The results of our study are providing an up-to-date ß-thal mutation spectrum in the 0-15-year-old pediatric population, which will help genetic counseling and prevention of ß-TM in mainland China's most endemic region, Guangxi Zhuang Autonomous Region.


Assuntos
Talassemia beta , Adolescente , Criança , Pré-Escolar , China/epidemiologia , Códon , Frequência do Gene , Genótipo , Humanos , Lactente , Recém-Nascido , Mutação , Globinas beta/genética , Talassemia beta/epidemiologia , Talassemia beta/genética
15.
Plant Mol Biol ; 103(1-2): 51-61, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32072392

RESUMO

Coffea arabica, C. canephora and C. excelsa, with differentiated morphological traits and distinct agro-climatic conditions, compose the majority of the global coffee plantation. To comprehensively understand their genetic diversity and divergence for future genetic improvement requires high-density markers. Here, we sequenced 93 accessions encompassing these three Coffea species, uncovering 15,367,960 single-nucleotide polymorphisms (SNPs). These SNPs are unequally distributed across different genomic regions and gene families, with two disease-resistant gene families showing the highest SNP density, suggesting strong balancing selection. Meanwhile, the allotetraploid C. arabica exhibits greater nucleotide diversity, followed by C. canephora and C. excelsa. Population divergence (FST), population stratification and phylogeny all support strong divergence among species, with C. arabica and its parental species C. canephora being closer genetically. Scanning of genomic islands with elevated FST and structure-disruptive SNPs contributing to species divergence revealed that most of the selected genes in each lineage are independent, with a few being selected in parallel for two or three species, such as genes in root hair cell development, flavonols accumulation and disease-resistant genes. Moreover, some of the SNPs associated with coffee lipids exhibit significantly biased allele frequency among species, being valuable for interspecific breeding. Overall, our study not only uncovers the key population genomic patterns among species but also contributes a substantial genomic resource for coffee breeding.


Assuntos
Coffea/genética , Especiação Genética , Seleção Genética , DNA de Plantas , Variação Genética , Genoma de Planta , Filogenia , Melhoramento Vegetal , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA
16.
Cancer Sci ; 111(9): 3379-3385, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32619034

RESUMO

The rapid spread of coronavirus disease 2019 (COVID-19) represented the most serious issue to public health globally. Hematological patients as immunocompromised hosts are vulnerable to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. There is little information available regarding the clinical features of hematological patients concomitant with COVID-19. In this study, 9 concomitant patients were analyzed for their clinical manifestations, laboratory data, radiological findings, and immunologic features. The median age was 50 years (range, 17-68 years) and 6 patients were male. Seven patients were infected through hospital-associated transmission and other 2 through community-associated transmission. Onset of COVID-19 in all patients occurred during routine treatments for their hematological diseases. Eight patients were classified as moderate and 1 patient as critically ill COVID-19. Four patients died, 1 from leukemia progression, 2 from life-threatening secondary infection, and the other from respiratory failure caused by COVID-19. Abruptly elevated levels of cytokines were often correlated with progressive hematological disease or concurrent bacterial infections. Two patients had atypical computed tomography (CT) imaging findings of COVID-19. The median interval from the first CT scan imaging to improvement in survivors was 40 days (range, 14-51 days). Four of 5 survivors had negative serological tests 1 month after symptom onset. Positive viral load in 4 survivors lasted longer than 45 days. Our results indicated concomitant patients formed a distinct subgroup characterized by atypical clinical features, defective viral clearance, and lower level of SARS-CoV-2-specific Abs. Targeted therapies that impair host humoral immunity should be avoided. These findings will be helpful to tailor appropriate management for the concomitant patients.


Assuntos
Infecções por Coronavirus/complicações , Doenças Hematológicas/complicações , Doenças Hematológicas/terapia , Hospedeiro Imunocomprometido , Pneumonia Viral/complicações , Adolescente , Adulto , Idoso , COVID-19 , Infecções por Coronavirus/imunologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias , Pneumonia Viral/imunologia , Adulto Jovem
17.
Wound Repair Regen ; 28(4): 532-538, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32386345

RESUMO

The vascular causes of lower-extremity ulcers cannot be neglected because they can directly affect treatment methods. No detailed epidemiological statistics have described vascular etiological diagnosis in China. This study aimed to explore the prevalence of clinical vascular etiological examination of lower-extremity ulcers and improve the diagnosis and treatment effectiveness of lower-extremity ulcers. Data were collected from the WoundCareLog database, which includes 2413 cases of lower-extremity ulcers from 478 hospitals nationwide. Data analysis revealed that 1698 (70.4%) lower-extremity blood flow examinations (including physical examination [PE] and assistant examinations [AE]) were performed, of which 61.7% were PE, 10.4% were AE only, and 27.9% were the combined PE and AE[PAE]. The proportion of nonexaminations was higher in the nondiabetic group than in the diabetic group (χ2 = 34.5; P < .01). The positive rates of vascular etiological examination in the diabetic and nondiabetic groups were 69.7% and 70.7%, respectively. Among the four economic regions of China, there were statistically significant differences in the use of the different examination methods. The examination of vascular diseases in lower-extremity ulcers in China has not been fully popularized and requires improvement; there was no statistically significant difference between examination rates by doctors and nurses, which is mainly based on PE. However, PE has certain rates of misdiagnosis and missed diagnosis. The false-positive and false-negative rates were 25.7% and 57.6%, respectively. The use of an AE can compensate for this deficiency by making diagnosis more precise, while the quantitative diagnostic criteria allow disease diagnosis to transcend geographical and operator differences and maximize uniformity. The vascular B-ultrasound examination is more suitable for the medical environment in China because of its mature technology, high hospital penetration rate, and low cost.


Assuntos
Úlcera da Perna/diagnóstico , Doenças Vasculares Periféricas/diagnóstico , Padrões de Prática em Enfermagem/estatística & dados numéricos , Padrões de Prática Médica/estatística & dados numéricos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Índice Tornozelo-Braço/estatística & dados numéricos , Monitorização Transcutânea dos Gases Sanguíneos/estatística & dados numéricos , Criança , Pré-Escolar , China , Doença Crônica , Angiografia por Tomografia Computadorizada/estatística & dados numéricos , Complicações do Diabetes/diagnóstico , Complicações do Diabetes/etiologia , Diabetes Mellitus , Feminino , Humanos , Lactente , Úlcera da Perna/etiologia , Masculino , Pessoa de Meia-Idade , Pressão Parcial , Doenças Vasculares Periféricas/complicações , Doenças Vasculares Periféricas/diagnóstico por imagem , Exame Físico/estatística & dados numéricos , Ultrassonografia/estatística & dados numéricos , Adulto Jovem
18.
Cell Physiol Biochem ; 46(2): 568-578, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29617678

RESUMO

BACKGROUND/AIMS: Migraine is a disabling condition that severely impacts socioeconomic function and quality of life. The focus of this study was to develop a mouse model of trigeminal pain that mimics migraine. METHODS: After undergoing dural cannulation surgery, mice were treated with repeated dural doses of an acidic solution to induce trigeminal pain. RESULTS: The method elicited intermittent, head-directed wiping and scratching as well as the expression of both the c-FOS gene in the spinal trigeminal nucleus caudalis and calcitonin gene related peptide (CGRP) in the periaqueductal grey matter. Interestingly, the acid-induced trigeminal pain behaviour was inhibited by amiloride, an antagonist of acid-sensing ion channels (ASICs), but not by AMG-9810, an inhibitor of transient receptor potential cation channel V1(TRPV1). In addition, the relative mRNA and protein expression levels of ASIC1a and ASIC3 were increased in the acid-induced trigeminal nociceptive pathways. Furthermore, blocking CaMKII with KN-93 significantly reduced the acid-induced trigeminal pain behaviour and c-FOS gene expression. CONCLUSION: The data suggested that chronic intermittent administration of an acidic solution to mice resulted in trigeminal hypersensitivity and that dural acid-induced trigeminal pain behaviour in mice may mechanistically mimic migraine. The observations here identify an entirely novel treatment strategy for migraine.


Assuntos
Proteína Quinase Tipo 2 Dependente de Cálcio-Calmodulina/metabolismo , Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/metabolismo , Dor/patologia , Ácido Acético/toxicidade , Bloqueadores do Canal Iônico Sensível a Ácido/farmacologia , Canais Iônicos Sensíveis a Ácido/genética , Canais Iônicos Sensíveis a Ácido/metabolismo , Acrilamidas/farmacologia , Amilorida/farmacologia , Animais , Comportamento Animal/efeitos dos fármacos , Compostos Bicíclicos Heterocíclicos com Pontes/farmacologia , Peptídeo Relacionado com Gene de Calcitonina/metabolismo , Modelos Animais de Doenças , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Dor/induzido quimicamente , Dor/metabolismo , Fosforilação/efeitos dos fármacos , Proteínas Proto-Oncogênicas c-fos/genética , Canais de Cátion TRPV/antagonistas & inibidores , Canais de Cátion TRPV/metabolismo , Núcleo Espinal do Trigêmeo/metabolismo , Núcleo Espinal do Trigêmeo/patologia
19.
Med Sci Monit ; 24: 5624-5634, 2018 Aug 13.
Artigo em Inglês | MEDLINE | ID: mdl-30101951

RESUMO

BACKGROUND Symptom distress is very common in patients with nasopharyngeal carcinoma (NPC) during radiotherapy, seriously affecting their quality of life and impeding the process of rehabilitation. Resourcefulness training can enhance the level of resourcefulness and benefit-finding, palliate symptom distress, and promote disease rehabilitation. However, the effects of resourcefulness training on local complications and benefit-finding in NPC patients during radiotherapy remains poorly understood. MATERIAL AND METHODS Questionnaires and resourcefulness training intervention were used in this study. The relationships among resourcefulness, benefit-finding, and symptom distress of 304 NPC patients were analyzed and the effects of resourcefulness training on NPC patients (N=80) were evaluated during radiotherapy. RESULTS Among the 304 NPC patients, age, educational level, occupation, family monthly income, method of payment of medical expenses, and histological types were significant factors influencing resourcefulness and benefit-finding. The patients' resourcefulness was positively correlated to their benefit-finding; and their distress was negatively correlated to their resourcefulness. After resourcefulness training for 2 months, average scores of the resourcefulness and benefit-finding were significantly increased in the intervention group (N=40) compared to those in the control group (N=40). Average scores of symptom distress were significantly reduced in the 2 groups, but they were reduced more significantly in the intervention group than in the control group. CONCLUSIONS The patients' benefit-finding and symptom distress were correlated with their resourcefulness. Resourcefulness training could enhance the level of resourcefulness and benefit-finding, palliate symptom distress, and promote disease rehabilitation in NPC patients during radiotherapy.


Assuntos
Carcinoma/psicologia , Neoplasias Nasofaríngeas/psicologia , Participação do Paciente/psicologia , Adulto , Idoso , China , Depressão , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Carcinoma Nasofaríngeo , Educação de Pacientes como Assunto/métodos , Participação do Paciente/métodos , Qualidade de Vida , Inquéritos e Questionários , Avaliação de Sintomas/métodos , Avaliação de Sintomas/psicologia
20.
New Phytol ; 216(3): 854-867, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28758689

RESUMO

Circadian rhythms of gene expression are generated by the combinatorial action of transcriptional and translational feedback loops as well as chromatin remodelling events. Recently, long noncoding RNAs (lncRNAs) that are natural antisense transcripts (NATs) to transcripts encoding central oscillator components were proposed as modulators of core clock function in mammals (Per) and fungi (frq/qrf). Although oscillating lncRNAs exist in plants, their functional characterization is at an initial stage. By screening an Arabidopsis thaliana lncRNA custom-made array we identified CDF5 LONG NONCODING RNA (FLORE), a circadian-regulated lncRNA that is a NAT of CDF5. Quantitative real-time RT-PCR confirmed the circadian regulation of FLORE, whereas GUS-staining and flowering time evaluation were used to determine its biological function. FLORE and CDF5 antiphasic expression reflects mutual inhibition in a similar way to frq/qrf. Moreover, whereas the CDF5 protein delays flowering by directly repressing FT transcription, FLORE promotes it by repressing several CDFs (CDF1, CDF3, CDF5) and increasing FT transcript levels, indicating both cis and trans function. We propose that the CDF5/FLORE NAT pair constitutes an additional circadian regulatory module with conserved (mutual inhibition) and unique (function in trans) features, able to fine-tune its own circadian oscillation, and consequently, adjust the onset of flowering to favourable environmental conditions.


Assuntos
Arabidopsis/fisiologia , Relógios Circadianos/genética , Flores/genética , RNA Longo não Codificante , Proteínas de Arabidopsis/genética , Proteínas de Arabidopsis/metabolismo , Flores/fisiologia , Regulação da Expressão Gênica de Plantas , Fotoperíodo , Plantas Geneticamente Modificadas , RNA Antissenso , RNA Interferente Pequeno
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