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1.
J Med Genet ; 61(9): 895-903, 2024 Aug 29.
Artigo em Inglês | MEDLINE | ID: mdl-38964834

RESUMO

BACKGROUND: IFIH1 variants have been reported to be associated with immune-related disorders with/without seizures. It is unknown whether IFIH1 variants are associated with common epilepsy without acquired causes and the mechanism underlying phenotypic variation remains elusive. METHODS: Trio-based whole-exome sequencing was performed on patients with febrile seizures or epilepsy with antecedent febrile seizures. Previously reported variants were systematically reviewed to investigate genotype-phenotype associations. RESULTS: Two de novo heterozygous and three biallelic missense variants were identified in five patients with generalised epilepsy with antecedent febrile seizures. The variants were predicted to be damaging by in silico tools and were associated with hydrogen bonding changes to neighbouring amino acids or decreased protein stability. Patients exhibited an early onset age and became seizure-free with favourable outcome. Further analysis revealed that de novo missense variants located in the Hel region resulted in seizures with multiple neurological abnormalities, while those in the pincer domain or C-terminal domain led to seizures with normal neurodevelopment, suggesting a sub-molecular effect. Biallelic missense variants, which were inherited from unaffected parents and presented low allele frequencies in general populations, were associated with seizures without neurological abnormalities. Truncation variants were related to refractory epilepsy and severe developmental delay, suggesting a genotype-phenotype correlation. IFIH1 is predominantly expressed in the neonatal stage and decreases dramatically in the adulthood, which is consistent with the early onset age and favourable outcome of the patients. CONCLUSIONS: IFIH1 variants are potentially associated with generalised epilepsy with antecedent febrile seizures. The sub-molecular implication and genotype-phenotype association help explain phenotype variations of IFIH1 variants.


Assuntos
Epilepsia Generalizada , Sequenciamento do Exoma , Estudos de Associação Genética , Helicase IFIH1 Induzida por Interferon , Mutação de Sentido Incorreto , Convulsões Febris , Humanos , Convulsões Febris/genética , Epilepsia Generalizada/genética , Masculino , Feminino , Helicase IFIH1 Induzida por Interferon/genética , Mutação de Sentido Incorreto/genética , Pré-Escolar , Lactente , Criança , Predisposição Genética para Doença , Adulto , Fenótipo
2.
Zhongguo Zhong Yao Za Zhi ; 48(21): 5767-5778, 2023 Nov.
Artigo em Zh | MEDLINE | ID: mdl-38114172

RESUMO

This study aims to explore the molecular regulation mechanism of the differential accumulation of flavonoids in the leaves and roots of Sarcandra glabra. Liquid chromatography-mass spectrometry(LC-MS) and high-throughput transcriptome sequencing(RNA-seq) were employed to screen out the flavonoid-related differential metabolites and differentially expressed genes(DEGs) encoding key metabolic enzymes. Eight DEGs were randomly selected for qRT-PCR verification. The results showed that a total of 37 flavonoid-related differential metabolites between the leaves and roots of S. glabra were obtained, including pinocembrin, phlorizin, na-ringenin, kaempferol, leucocyanidin, and 5-O-caffeoylshikimic acid. The transcriptome analysis predicted 36 DEGs associated with flavonoids in the leaves and roots of S. glabra, including 2 genes in the PAL pathway, 3 genes in the 4CL pathway, 2 genes in the CHS pathway, 4 genes in the CHI pathway, 2 genes in the FLS pathway, 1 gene in the DFR pathway, 1 gene in the CYP73A pathway, 1 gene in the CYP75B1 pathway, 3 genes in the PGT1 pathway, 6 genes in the HCT pathway, 2 genes in the C3'H pathway, 1 gene in the CCOAOMT pathway, 1 gene in the ANR pathway, 1 gene in the LAR pathway, 2 genes in the 3AT pathway, 1 gene in the BZ1 pathway, 2 genes in the IFTM7 pathway, and 1 gene in the CYP81E9 pathway. Six transcription factors, including C2H2, bHLH, and bZIP, were involved in regulating the differential accumulation of flavonoids in the leaves and roots of S. glabra. The qRT-PCR results showed that the up-or down-regulated expression of the 8 randomly selected enzyme genes involved in flavonoid synthesis in the leaves and roots of S. glabra was consistent with the transcriptome sequencing results. This study preliminarily analyzed the transcriptional regulation mechanism of differential accumulation of flavonoids in the leaves and roots of S. glabra, laying a foundation for further elucidating the regulatory effects of key enzyme genes and corresponding transcription factors on the accumulation of flavonoids in S. glabra.


Assuntos
Regulação da Expressão Gênica de Plantas , Metaboloma , Flavonoides , Perfilação da Expressão Gênica , Transcriptoma , Fatores de Transcrição/metabolismo
3.
Ann Hematol ; 101(12): 2617-2625, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36178488

RESUMO

The clinical characteristics and prognosis of intracranial hemorrhage (ICH) in patients with hematological diseases remain controversial. This study aimed to describe the clinical characteristics and explore the prognostic factors in such patients. A total of 238 ICH patients with a hematological disease were recruited from the Institute of Hematology and Blood Diseases Hospital, China, from January 2015 to April 2020. The Cox proportional hazards model was used to identify the prognostic factors for 30-day mortality in ICH patients with a hematological disease. There were 123 cases of acute leukemia (AL), 20 of myelodysplasia/myeloproliferative neoplasm, 35 of aplastic anemia (AA), 29 of immune thrombocytopenia (ITP), 19 of congenital/acquired coagulation factor deficiency, and 12 of other hematological diseases. Furthermore, 121 patients presented with a multi-site hemorrhage (MSH), 58 with a single-site hemorrhage in the brain parenchyma (PCH), 23 with a subarachnoid hemorrhage, 33 with a subdural hemorrhage (SH), and three with an epidural hemorrhage. The Cox proportional hazards model indicated association of SH (vs PCH, hazard ratio [HR]: 0.230; 95% confidence interval [CI]: 0.053-0.996; P = 0.049), low white blood cells (≤ 100 × 109/L vs > 100 × 109/L, HR: 0.56; 95% CI: 0.348-0.910; P = 0.019), AA (vs AL, HR: 0.408; 95% CI: 0.203-0.821; P = 0.012), and ITP (vs AL, HR: 0.197; 95% CI: 0.061-0.640; P = 0.007) with improved 30-day mortality. However, increased age (HR: 1.012; 95% CI: 1.001-1.022; P = 0.034), MSH (vs PCH, HR: 1.891; 95% CI: 1.147-3.117; P = 0.012), and a disturbance of consciousness (HR: 1.989; 95% CI: 1.269-3.117; P = 0.003) were associated with increased risk of 30-day mortality. In conclusion, in this study, we revealed the clinical characteristics of Chinese ICH patients with a hematological disease. Moreover, we identified risk factors (age, white blood cells, AA, ITP, SH, MSH, and a disturbance of consciousness) that may influence 30-day mortality.


Assuntos
Anemia Aplástica , Doenças Hematológicas , Leucemia Mieloide Aguda , Trombocitopenia , Humanos , Anemia Aplástica/complicações , Hemorragia Cerebral/complicações , Doenças Hematológicas/complicações , Hematoma Subdural , Hemorragias Intracranianas/etiologia , Leucemia Mieloide Aguda/complicações , Prognóstico , Fatores de Risco , Trombocitopenia/complicações
4.
PLoS Comput Biol ; 17(8): e1009254, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34343164

RESUMO

Driven by the necessity to survive environmental pathogens, the human immune system has evolved exceptional diversity and plasticity, to which several factors contribute including inheritable structural polymorphism of the underlying genes. Characterizing this variation is challenging due to the complexity of these loci, which contain extensive regions of paralogy, segmental duplication and high copy-number repeats, but recent progress in long-read sequencing and optical mapping techniques suggests this problem may now be tractable. Here we assess this by using long-read sequencing platforms from PacBio and Oxford Nanopore, supplemented with short-read sequencing and Bionano optical mapping, to sequence DNA extracted from CD14+ monocytes and peripheral blood mononuclear cells from a single European individual identified as HV31. We use this data to build a de novo assembly of eight genomic regions encoding four key components of the immune system, namely the human leukocyte antigen, immunoglobulins, T cell receptors, and killer-cell immunoglobulin-like receptors. Validation of our assembly using k-mer based and alignment approaches suggests that it has high accuracy, with estimated base-level error rates below 1 in 10 kb, although we identify a small number of remaining structural errors. We use the assembly to identify heterozygous and homozygous structural variation in comparison to GRCh38. Despite analyzing only a single individual, we find multiple large structural variants affecting core genes at all three immunoglobulin regions and at two of the three T cell receptor regions. Several of these variants are not accurately callable using current algorithms, implying that further methodological improvements are needed. Our results demonstrate that assessing haplotype variation in these regions is possible given sufficiently accurate long-read and associated data. Continued reductions in the cost of these technologies will enable application of these methods to larger samples and provide a broader catalogue of germline structural variation at these loci, an important step toward making these regions accessible to large-scale genetic association studies.


Assuntos
Variação Genética , Genoma Humano/imunologia , Sistema Imunitário , Algoritmos , Biologia Computacional , Variações do Número de Cópias de DNA , Genômica/métodos , Genômica/estatística & dados numéricos , Antígenos HLA/genética , Haplótipos , Sequenciamento de Nucleotídeos em Larga Escala/estatística & dados numéricos , Humanos , Fenômenos Imunogenéticos , Imunoglobulinas/genética , Receptores de Antígenos de Linfócitos T/genética , Receptores KIR/genética , Análise de Sequência de DNA/estatística & dados numéricos
5.
Toxicol Ind Health ; 38(11): 745-756, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36120900

RESUMO

C/EBP-homologous protein (CHOP) and histone H3 lysine 4 (H3K4) methylation have been verified to be correlated with apoptosis, whereas their biological function in arsenic-induced hepatocyte apoptosis through the mitochondrial pathway is still unclear. This study aimed to explore the specific regulatory mechanism of CHOP and H3K4me1/2 in arsenic-induced mitochondrial apoptosis in hepatocytes. Apoptosis and proliferation results showed arsenic promoted apoptosis and inhibited cell growth in BRL-3A cells. Meanwhile, arsenic treatment significantly upregulated the 78-kDa glucose-regulated protein (GRP78), CHOP, su(var)-3-9,enhancer-of-zeste,trithorax (SET) domain containing 7/9 (SET7/9), H3K4me1/2, BIM and BAX expression, while markedly downregulated lysine-specific histone demethylase 1 (LSD1) and BCL2 expression. After down-regulating CHOP, LSD1, and (su(var)-3-9,enhancer-of-zeste,trithorax) domain-containing protein 7/9 (SET7/9) in BRL-3A cells by siRNA, silencing CHOP and SET7/9 notably attenuated the pro-apoptotic and anti-proliferative effects of arsenic treatment on BRL-3A cells, which was reversed after inhibiting LSD1. In addition, our results suggested that knockdown of CHOP altered the expression of mitochondrial-associated proteins BCL2 and BIM, whereas knockdown of LSD1 and SET7/8 regulated the level of H3K4me1/2 modification and BAX protein. Coupled with chromatin immunoprecipitation results, we found that the level of CHOP in the promoter regions of BCL2 and BIM was significantly increased in BRL-3A cells exposed to 30 µmol/L NaAsO2 for 24 h, whereas the levels of H3K4me1/2 in the promoter regions of BAX were unchanged. Collectively, these data indicated that arsenic triggered the mitochondrial pathway to induce hepatocyte apoptosis by up-regulating the levels of CHOP and H3K4me1/2.


Assuntos
Arsênio , Histonas , Proteína X Associada a bcl-2/genética , Proteína X Associada a bcl-2/metabolismo , Metilação , Histonas/metabolismo , Lisina/metabolismo , Arsênio/toxicidade , RNA Interferente Pequeno/genética , RNA Interferente Pequeno/metabolismo , Apoptose , Hepatócitos/metabolismo , Histona Desmetilases/genética , Histona Desmetilases/metabolismo
6.
J Org Chem ; 86(18): 12676-12682, 2021 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-34472854

RESUMO

Sulfonyl oxime ethers undergo facile radical substitutions with various amines to yield the corresponding oxime ethers. An efficient arylation of sulfonyl oxime ethers was accomplished under ambient temperature and metal-free conditions, with a wide range of functional group tolerance. Mechanistic investigations indicate that a phenyl radical is involved in the catalytic cycle.

7.
Psychol Health Med ; 24(1): 51-58, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-29695175

RESUMO

Low well-being is common among Chinese pregnant women but few effective interventions currently exist to improve prenatal stress and negative emotions. Mindfulness-based stress reduction (MBSR) has been proved to be effective in reducing stress and rarely studies were focused on Chinese pregnant women. The aim of the current paper is to investigate the effects of 8-week MBSR on prenatal stress, anxiety and depression among Chinese pregnant women. A sample of 66 pregnant women randomly allocated into either the MBSR group (n=34) or the control group (n=32). Participants in the MBSR group received a group 8-week, 90-min each time intervention. The results found a significant interaction between time and condition for prenatal stress (F=45.51, p<0.001, η 2=0.427), anxiety (F=19.30, p<0.001, η 2=0.240), while depression showed no time-by-group interaction (F=0.29, p=0.589, η 2=0.005). As for the sub-scale of state anxiety, while there was only no time effect (F=3.68, p=0.060, η 2=0.057). The findings of this study preliminary indicated effects of the MBSR intervention on self-reported prenatal stress and anxiety in comparison to a treatment-as-usual control. Effect on depression was not observed may due to the low level of depression of participants. This study provides preliminary evidence that MBSR is suitable for Chinese pregnant women and be effective in decreasing prenatal stress, anxiety.


Assuntos
Ansiedade/terapia , Depressão/terapia , Atenção Plena/métodos , Complicações na Gravidez/terapia , Estresse Psicológico/terapia , Adulto , Feminino , Humanos , Gravidez , Resultado do Tratamento , Adulto Jovem
9.
Psychol Health Med ; 22(1): 94-109, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-26853191

RESUMO

Breast cancer (BC) patients in China suffered from a variety of psychology stress such as perceived stress and anxiety, posttraumatic growth (PTG) as a positive factor could promote their psychology health and quality of life. This study aimed to investigate the efficacy of mindfulness-based stress reduction (MBSR) on promoting PTG, decreasing perceived stress and anxiety of Chinese BC patients. A randomized controlled trial of 60 BC patients (Stages I-III) was conducted. They were randomly divided to the 8-week MBSR group or usual care (UC) group. PTG inventory, Perceived Stress Scale of Chinese version (CPSS) and State Trait Anxiety Inventory (STAI) evaluated the PTG level, perceived stress and anxiety at three times(before intervention-T1, after intervention-T2 and follow up at 3 months-T3). A repeated-measures analysis of variance model was used to compare each outcome measure of two groups at the three times. There was one patient discontinued the intervention and one lose to follow up in MBSR group, finally 58 BC patients completed the research. There was no difference between two groups before the intervention. The results showed significant improvements in MBSR group comparing with the UC group that PTG level was much higher after the 8-week intervention and the follow up (F = 34.73, p < .00). At the same time, CPSS (F = 14.41, p < .00) and STAI (F = 15.24, p < .00) scores were significant decreased at T2 and T3. The results showed that MBSR promoted the level of PTG and decreased perceived stress and anxiety state of Chinese BC patients, and the results persisted at three months after intervention. The research preliminary proved that MBSR was suitable to Chinese BC patients. MBSR should be recommending to BC survivors in China.


Assuntos
Neoplasias da Mama/psicologia , Sobreviventes de Câncer/psicologia , Atenção Plena/métodos , Avaliação de Resultados em Cuidados de Saúde , Estresse Psicológico/terapia , Adulto , China , Feminino , Humanos , Pessoa de Meia-Idade
10.
Zhongguo Dang Dai Er Ke Za Zhi ; 18(1): 34-8, 2016 Jan.
Artigo em Zh | MEDLINE | ID: mdl-26781410

RESUMO

OBJECTIVE: To investigate the application of multiplex ligation-dependent probe amplification (MLPA) in the detection of copy number variations (CNVs) in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia (ALL), to compare this method with conventional karyotype analysis and fluorescence in situ hybridization (FISH), and to evaluate the value of MLPA. METHODS: The clinical data of 95 children with ETV6/RUNX1-positive ALL who were treated from January 2006 to November 2012 were analyzed retrospectively, including clinical features, results of karyotype analysis, and results of FISH. CNVs were detected with MLPA. RESULTS: CNVs were detected in 73 (77%), and the median number of CNVs was 1 (range 0-6). The CNVs of EBF1, CDKN2A/2B, PAX5, ETV6, RB1, and BTG1 were detected in more than 10% of all the patients. The changes in the chromosome segments carrying the genes with CNVs detected by MLPA were not detected by conventional karyotype analysis. The coincidence rate between the CNVs in ETV6 gene detected by FISH and those detected by MLPA was 66%. CONCLUSIONS: MLPA is an efficient and convenient method to detect CNVs in children with ETV6/RUNX1-positive ALL.


Assuntos
Subunidade alfa 2 de Fator de Ligação ao Core/análise , Variações do Número de Cópias de DNA , Reação em Cadeia da Polimerase Multiplex/métodos , Proteínas de Fusão Oncogênica/análise , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino
11.
Zhongguo Dang Dai Er Ke Za Zhi ; 18(4): 287-91, 2016 Apr.
Artigo em Zh | MEDLINE | ID: mdl-27097569

RESUMO

OBJECTIVE: To identify the incidence of PAX5 deletion in childhood B-lineage acute lymphoblastic leukemia (B-ALL) without reproducible chromosomal abnormalities and to investigate the association between PAX5 abnormalities and prognosis of ALL. METHODS: Multiplex ligation-dependent probe amplification was used to determine the copy numbers of PAX5 gene in children newly diagnosed with B-ALL without reproducible chromosomal abnormalities between April 2008 and April 2013 and controls (children with non-hematologic diseases or tumors). The patients were classifiied into deletion group and non-deletion group based on the presence of PAX5 deletion. RESULTS: Eighteen (21%) out of 86 children with B-ALL had PAX5 deletion. The deletion group had a significantly higher total white blood cell count at diagnosis than the non-deletion group (P=0.001). The Kaplan-Meier analysis demonstrated that the deletion group had a significantly lower disease-free survival (DFS) rate than the non-deletion group (0.69±0.12 vs 0.90±0.04; P=0.017), but there was no significant difference in the overall survival rate between the two groups (P=0.128). The Cox analysis showed that PAX5 deletion was a risk factor for DFS (P=0.03). CONCLUSIONS: PAX5 deletion is an independent risk factor for DFS in B-ALL children without reproducible chromosomal abnormalities.


Assuntos
Deleção de Genes , Fator de Transcrição PAX5/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Doença Aguda , Adolescente , Linhagem da Célula , Criança , Pré-Escolar , Aberrações Cromossômicas , Intervalo Livre de Doença , Feminino , Humanos , Lactente , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras B/mortalidade
12.
Zhongguo Dang Dai Er Ke Za Zhi ; 18(8): 742-5, 2016 Aug.
Artigo em Zh | MEDLINE | ID: mdl-27530793

RESUMO

OBJECTIVE: To investigate the association between clinical outcome and gene mutations in children with Fanconi anemia (FA). METHODS: A retrospective analysis was performed for the clinical data of six children with the same severity of FA and receiving the same treatment. At first, single cell gel electrophoresis and chromosome breakage induced by mitomycin C were performed for diagnosis. Then the gene detection kit for congenital bone marrow failure diseases or complementation test was used for genotyping of FA. Finally the association between the clinical outcome at 3, 6, 9, or 12 months after treatment and gene mutation was analyzed. RESULTS: Of all the six FA children, five had FANCA type disease, and one had FANCM type disease; four children carried two or more FA gene mutations. Among the children with the same severity of FA, those with more FA mutations had a younger age of onset and poorer response to medication, and tended to progress to a severe type. CONCLUSIONS: Children carrying more than two FA mutations have a poor clinical outcome, and hematopoietic stem cell transplantation should be performed as soon as possible.


Assuntos
Anemia de Fanconi/genética , Mutação , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Retrospectivos
13.
Zhongguo Dang Dai Er Ke Za Zhi ; 17(8): 819-24, 2015 Aug.
Artigo em Zh | MEDLINE | ID: mdl-26287346

RESUMO

OBJECTIVE: To study the efficacy and safety of Chinese Childhood Leukemia Group ALL 2008 (CCLG-ALL2008) protocol combined with tyrosine kinase inhibitor (TKI, imatinib) for the treatment of Philadelphia chromosome-positive (Ph+) acute lymphoblastic leukemia (ALL) in children. METHODS: The clinical data of 53 patients aged less than 15 years when first diagnosed with Ph+ ALL between October 2008 and December 2013 were retrospectively analyzed. The patients were assigned to two groups: HR (n=26) and HR+TKI (n=27). The HR group was treated with CCLG-ALL2008 protocol (for high-risk patients). The HR+TKI group was treated with imatinib in combination with CCLG-ALL2008 protocol (for high-risk patients). RESULTS: The complete remission rate and chemotherapy induction-related mortality rate in the TKI+HR and HR groups were 100% vs 75% and 0 vs 15%, respectively. The 3-year event-free survival (EFS) rate in the HR group was (6±5)%; the 5-year EFS rate of the TKI+HR group was (52±11)%. Compared with the HR group, the TKI+HR group had no increase in the toxic responses to chemotherapy and had a decrease in the infection rate during the induction period. CONCLUSIONS: Application of imatinib significantly improves the clinical efficacy in children with Ph+ ALL and has good safety.


Assuntos
Antineoplásicos/uso terapêutico , Mesilato de Imatinib/uso terapêutico , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Inibidores de Proteínas Quinases/uso terapêutico , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Mesilato de Imatinib/efeitos adversos , Masculino , Cromossomo Filadélfia , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidade
14.
Zhongguo Dang Dai Er Ke Za Zhi ; 17(11): 1154-9, 2015 Nov.
Artigo em Zh | MEDLINE | ID: mdl-26575870

RESUMO

OBJECTIVE: To identify IKZF1 gene copy number abnormalities in BCR/ABL-negative B-lineage acute lymphoblastic leukemia (B-ALL) in children, and to investigate the association between such abnormalities and prognosis. METHODS: Multiplex ligation-dependent probe amplification (MLPA) was applied to detect IKZF1 gene copy number abnormalities in 180 children diagnosed with BCR/ABL-negative B-ALL. These children were classified into IKZF1 deletion group and IKZF1 normal group according to the presence or absence of IKZF1 gene deletion. The association between IKZF1 copy number abnormalities and prognosis of children with BCR/ABL-negative B-ALL was analyzed retrospectively. RESULTS: Among 180 children, 27 (15.0%) had IKZF1 deletion; among the 27 children, 4 had complete deletions of 8 exons of IKZF1 gene, 17 had deletion of exon 1, 3 had deletions of exons 4-7, and 3 children had deletions of exons 2-7. Compared with those in the IKZF1 normal group, children in the IKZF1 deletion group had higher white blood cell (WBC) count and percentage of individuals with high risk of minimal residual disease at the first visit. IKZF1 deletions often occurred in BCR/ABL-negative children with no special fusion gene abnormalities. They were frequently accompanied by abnormalities in chromosomes 11, 8, 5, 7, and 21. The analysis with Kaplan-Meier method showed that disease-free survival (DFS) in the IKZF1 deletion group was significantly lower than that in the IKZF1 normal group (0.740 ± 0.096 vs 0.905 ± 0.034; P=0.002). Cox analysis showed that after exclusion of sex, age, initial WBC count, cerebrospinal fluid state at the first visit, prednisone response, and chromosome karyotype, IKZF1 deletion still affected the children's DFS (P<0.05). CONCLUSIONS: Some children with BCR/ABL-negative B-ALL have IKZF1 deletion, and IKZF1 deletion is an independent risk factor for DFS in children with BCR/ABL-negative B-ALL.


Assuntos
Proteínas de Fusão bcr-abl/análise , Dosagem de Genes , Fator de Transcrição Ikaros/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Reação em Cadeia da Polimerase Multiplex , Leucemia-Linfoma Linfoblástico de Células Precursoras B/mortalidade , Prognóstico
15.
Zhongguo Dang Dai Er Ke Za Zhi ; 17(1): 6-10, 2015 Jan.
Artigo em Zh | MEDLINE | ID: mdl-25616284

RESUMO

OBJECTIVE: To investigate the methylation rate of cyclin-dependent kinase inhibitor 2A (CDKN2A) and cyclin-dependent kinase inhibitor 2B (CDKN2B) in the 9P21 region in children with acute myeloid leukemia (AML) and the association of gene methylation with clinical features and outcomes. METHODS: The clinical data of 58 children who were newly diagnosed with AML between January 2010 and December 2012 were retrospectively analyzed. Thirty-eight healthy children were recruited as the control group. Genomic DNA was extracted from bone marrow or peripheral blood of the 58 patients and 38 healthy children. The methylation status of CDKN2A and CDKN2B was analyzed by methylation-specific multiplex ligation-dependent probe amplification. RESULTS: Gene methylation was not found in healthy children. Methylation probes of 44 patients were detected in 58 patients. The methylation of CDKN2A was detected with 136 bp and 237 bp methylation probes. The methylation of CDKN2B was detected with 130 bp, 210 bp, 220 bp, and 417 bp methylation probes. The methylation rate of CDKN2A was 5%, while the methylation rate of CDKN2B was 76%. The methylation detected by some probes was associated with sex, hemoglobin, and platelet count at the first visit. CONCLUSIONS: The methylation of CDKN2B is a common event in children with AML, while the methylation of CDKN2A is relatively rare.


Assuntos
Inibidor de Quinase Dependente de Ciclina p15/genética , Inibidor p16 de Quinase Dependente de Ciclina/genética , Metilação de DNA , Leucemia Mieloide Aguda/genética , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino
16.
Zhongguo Dang Dai Er Ke Za Zhi ; 16(10): 1019-24, 2014 Oct.
Artigo em Zh | MEDLINE | ID: mdl-25344183

RESUMO

OBJECTIVE: To study the long-term efficacy of CAMSBDH-ALL chemotherapy protocol for the treatment of childhood acute lymphoblastic leukemia (ALL). METHODS: Three hundred and eighteen children who were newly diagnosed with ALL between January 1999 and December 2007 were enrolled in this study. Among the 318 children, 83 children who hospitalized before December 2002 were treated with CAMSBDH-ALL99 protocol, including 48 patients of standard risk and 35 patients of high risk. The patients (n=235; 131 in standard risk and 104 in high risk) who hospitalized after December 2002 were treated with CAMSBDH-ALL03 protocol. Patients in the CAMSBDH-ALL99 protocol group were treated with conventional chemotherapy. CAMSBDH-ALL03 protocol was modified based on the CAMSBDH-ALL99 protocol. RESULTS: The long-term overall survival (OS) and event-free-survival (EFS) in the CAMSBDH-ALL03 group was significantly higher than in the CAMSBDH-ALL99 (P<0.01). The long-term OS and EFS of standard risk and high risk patients in the CAMSBDH-ALL03 protocol group were significantly higher than in the CAMSBDH-ALL99 protocol group (P<0.01). The CAMSBDH-ALL03 protocol group showed a significantly lower recurrence rate (28.9%) than in the CAMSBDH-ALL99 protocol group (50.6%) (P<0.05). The mortality rate in the CAMSBDH-ALL03 protocol group was 28.5% vs 56.6% in the CAMSBDH-ALL99 protocol group (P<0.05). CONCLUSIONS: The therapeutic effect of the CAMSBDH-ALL03 protocol is supior to the CAMSBDH-ALL99 protocol group for childhood ALL, with a higher long-term survival rate.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Adolescente , Criança , Pré-Escolar , Protocolos Clínicos , Feminino , Humanos , Lactente , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidade , Recidiva
17.
Shanghai Kou Qiang Yi Xue ; 33(4): 373-380, 2024 Aug.
Artigo em Zh | MEDLINE | ID: mdl-39478393

RESUMO

PURPOSE: To compare the changes of soft tissue profile of maxillary edentulous patients before and immediately after implant restoration, as well as to investigate patient satisfaction with postoperative facial appearance. METHODS: A total of 24 patients treated in Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine from January 2018 to December 2020 were selected, the medical history and positive lateral cephalometric film of the patients before and after restoration were collected. Preoperative facial scanning of the patients was performed using the portable 3D facial scanner to design the immediate transitional denture restoration and then perform implant surgery. The collected lateral cephalograms of patients before and after treatment were imported into the computer. The angle measurement items before and after implant immediate denture restoration were analyzed including nasolabial angle, prn'-sn'-ul'(Ls), n'-prn'-sn', N-prn-Pog, Z angle, H angle and line measurements including the distance of upper lip to the E-plane and Sn-Prn. The soft tissue angle and lines were measured by Dolphin Imaging 11.95. Postoperative patient satisfaction with facial appearance was surveyed via telephone questionnaire. SPSS 26.0 software package was used for data analysis. RESULTS: Before restoration of immediate denture, the nasolabial angle and the distance of upper lip to the E-plane of both male and female patients was significantly different from the standard value, and the Z angle of female patients was significantly different from the standard value. After immediate denture restoration, there was no significant difference in nasolabial angle and the distance of upper lip to the E-plane between male and female patients, but there was significant difference in H angle, and nasal tip angle in female patients. After immediate denture restoration, there was no significant difference between the nasolabial angle, H angle and the distance of upper lip to the E-plane in male and female patients after immediate denture restoration, while the soft tissue convexity and Z angle between male and female patients after immediate denture restoration were significantly different compared with the standard value of the attractive individuals. After completion of immediate denture restoration, compared to the edentulous state in maxillary implant treatment, significant changes were observed in nasolabial angle, Z angle, and H angle in patients. The survey of seven questions had a mean score above 3 points (scoring standard 1-5, with 5 being the highest), indicating high patient satisfaction with the appearance after immediate denture restoration. CONCLUSIONS: After immediate denture restoration, the profile of the patient's soft tissue can be improved immediately, and the patient's soft tissue profile can basically return to the normal level, and even meet the standards of beautiful people. It is necessary to guide clinicians to further optimize the function and shape of prostheses in combination with patients' subjective aesthetic demands and individual conditions when conducting implant immediate transition denture restoration.


Assuntos
Maxila , Satisfação do Paciente , Humanos , Maxila/anatomia & histologia , Cefalometria , Face/anatomia & histologia , Feminino , Masculino , Arcada Edêntula
18.
Life (Basel) ; 14(3)2024 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-38541636

RESUMO

(1) Background: Years of research have identified ischemic preconditioning (IPC) as a crucial endogenous protective mechanism against myocardial ischemia-reperfusion injury, enhancing the myocardial cell's tolerance to subsequent ischemic damage. High-intensity interval training (HIIT) is promoted by athletes because it reduces exercise duration and improves metabolic response and cardiopulmonary function. Our objective was to evaluate and compare whether HIIT and IPC could reduce myocardial ischemia and reperfusion injury in rats. (2) Methods: Male Sprague-Dawley rats were divided into four groups: sham surgery, coronary artery occlusion (CAO), high-intensity interval training (HIIT), and ischemic preconditioning (IPC). The CAO, HIIT, and IPC groups experienced 40 min of coronary artery occlusion followed by 3 h of reperfusion to induce myocardial ischemia-reperfusion injury. Subsequently, the rats were sacrificed, and blood samples along with cardiac tissues were examined. The HIIT group received 4 weeks of training before surgery, and the IPC group underwent preconditioning before the ischemia-reperfusion procedure. (3) Results: The HIIT and IPC interventions significantly reduced the extent of the myocardial infarction size and the levels of serum troponin I and lactate dehydrogenase. Through these two interventions, serum pro-inflammatory cytokines, including TNF-α, IL-1ß, and IL-6, were significantly decreased, while the anti-inflammatory cytokine IL-10 was increased. Furthermore, the expression of pro-apoptotic proteins PTEN, caspase-3, TNF-α, and Bax in the myocardium was reduced, and the expression of anti-apoptotic B-cell lymphoma 2 (Bcl-2) was increased, ultimately reducing cellular apoptosis in the myocardium. In conclusion, both HIIT and IPC demonstrated effective strategies with potential for mitigating myocardial ischemia-reperfusion injury for the heart.

19.
Glob Med Genet ; 11(2): 142-149, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38606422

RESUMO

Objectives This study aimed to identify the association between lactate dehydrogenase (LDH) levels and 30-day mortality in patients with intracranial hemorrhage (ICH) with acute leukemia during the induction phase. Methods This cohort study included patients with acute leukemia with ICH during induction. We evaluated serum LDH levels upon admission. Multivariable Cox regression analyzed the LDH 30-day mortality association. Interaction and stratified analyses based on factors like age, sex, albumin, white blood cell count, hemoglobin level, and platelet count were conducted. Results We selected 91 patients diagnosed with acute leukemia and ICH. The overall 30-day mortality rate was 61.5%, with 56 of the 91 patients succumbing. Among those with LDH levels ≥ 570 U/L, the mortality rate was 74.4% (32 out of 43), which was higher than the 50% mortality rate of the LDH < 570 U/L group (24 out of 48) ( p = 0.017). In our multivariate regression models, the hazard ratios and their corresponding 95% confidence intervals for Log2 and twice the upper limit of normal LDH were 1.27 (1.01, 1.58) and 2.2 (1.05, 4.58), respectively. Interaction analysis revealed no significant interactive effect on the relationship between LDH levels and 30-day mortality. Conclusions Serum LDH level was associated with 30-day mortality, especially in patients with LDH ≥ 570 U/L.

20.
Cancer Nurs ; 46(5): E336-E342, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37607384

RESUMO

BACKGROUND: Physical activity plays an important role in the recovery of breast cancer survivors. However, previous studies have shown that most breast cancer survivors have inadequate levels of physical activity. OBJECTIVE: This study aimed to explore the influencing factors of physical activity in breast cancer survivors. METHODS: Twelve participants aged 38 to 65 years who had completed surgery and related treatment for breast cancer were recruited from the outpatient service of a hospital in Daqing, China. The phenomenological method was used in this qualitative research. Semistructured interviews were conducted to explore the influencing factors of physical activity in breast cancer survivors. Colaizzi's 7-step analysis method was used to code the data and identify descriptive themes. RESULTS: Four themes affecting the daily physical activity of breast cancer patients were extracted: perception and motivation (knowledge about benefits, goals, and motivation for physical activity), symptom burden (psychological and physical symptoms), social support (support from oncology staff, family, and peers) and environmental resources (seasonal impact, community resources). CONCLUSION: The physical activity of breast cancer survivors is affected by many factors. Oncology providers need to strengthen assessment, identify barriers, and provide interventions to promote the patients' participation in physical activity and to improve their quality of life. IMPLICATION FOR PRACTICE: It is necessary for providers to integrate medical and social support resources, use strategies to enhance motivation, and effectively solve barriers to increase physical activity in breast cancer survivors.


Assuntos
Neoplasias da Mama , Sobreviventes de Câncer , Humanos , Feminino , Sobreviventes de Câncer/psicologia , Neoplasias da Mama/terapia , Neoplasias da Mama/psicologia , Qualidade de Vida , Exercício Físico/psicologia , Pesquisa Qualitativa
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