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1.
World Neurosurg ; 2020 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-32389863

RESUMO

OBJECTIVE: This study aimed to assess the early mortality in pediatric glioma and identify predictors of early mortality, which may provide insight into the therapeutic strategies for children with a high risk of early mortality. METHODS: We used SEER*Stat 8.3.5 software to extract data of pediatric glioma from the Surveillance, Epidemiology, and End Results (SEER) database. Logistical regression to identify the independent factors in predicting early mortality. RESULTS: A total of 3035 males and 2741 females enrolled in the present study. The death rates within one-month and three-month after diagnosis were 1.32% and 2.44%, respectively. Early mortality has decreased significantly during the past 40 years. Our results showed that glioblastoma, anaplastic glioma, oligodendroglioma were risk factors of early mortality for children diagnosed with glioma, while advanced age, gross total resection, radiation, and chemotherapy were associated with decreased early mortality. CONCLUSION: we found a decrease in early mortality during the past 40 years. The death rates within one-month and three-month after diagnosis were 1.32% and 2.44%, respectively. Age at diagnosis, histologic subtype, the extent of resection, chemotherapy, and radiation were associated with early mortality in pediatric glioma.

2.
BMC Med Genomics ; 13(1): 66, 2020 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-32381089

RESUMO

BACKGROUND: Xp11.22 duplications have been reported to contribute to nonsyndromic intellectual disability (ID). The HUWE1 gene has been identified in all male Xp11.22 duplication patients and is associated with nonsyndromic ID. Currently, few Xp11.22 duplication cases have been reported in the Chinese population, with limited knowledge regarding the role of other genes in this interval. CASE PRESENTATION: We investigated four unrelated Chinese male Xp11.22 duplication patients, performed a comprehensive clinical evaluation for the patients and discussed the role of other genes in this interval. All patients presented with similar clinical features, including ID, speech impairments and motor delay, which were mostly consistent with those of the Xp11.22 duplication described previously. We searched and compared all cases and noted that one of the probands (Family 1) and DECIPHER case 263,219, who carried small overlapping duplications at Xp11.22 that only covered the entire HSD17B10 gene, also suffered from ID, suggesting the important role of HSD17B10 in this interval. Furthermore, three patients (two probands in Families 3 and 4 and DECIPHER case 249,490) had strikingly similar hypogonadism phenotypes, including micropenis, small testes and cryptorchidism, which have not been previously described in Xp11.22 duplication patients. Interestingly, the FGD1 gene was duplicated only in these three patients. Sufficient evidence has suggested that haploinsufficiency of the FGD1 gene causes Aarskog-Scott syndrome, which is characterized by hypogonadism and other abnormalities. Given that, we are the first group to propose that FGD1 may be a potential dosage-sensitive gene responsible for the hypogonadism observed in our patients. CONCLUSION: We reported novel genotypes and phenotypes in Chinese male Xp11.22 duplication patients, and the HSD17B10 and FGD1 genes may be involved.

3.
BMC Med Genet ; 21(1): 93, 2020 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-32375772

RESUMO

BACKGROUND: Pathogenic SLC6A1 variants have been reported in patients with myoclonic-atonic epilepsy (MAE). NOTCH1, encoding a member of the Notch family of proteins, is known to be associated with aortic valve disease. The PRIMPOL variant has only been identified in Chinese patients with high myopia. Exome sequencing analysis now allows the simultaneous detection of multiple genetic etiologies for patients with complicated clinical features. However, the presence of three Mendelian disorders in one patient supported by their respective pathogenic variants and clinical phenotypes is very rare. CASE PRESENTATION: Here, we report a 4-year-old Chinese boy who presented with MAE, delayed language, borderline intellectual disability (ID), mildly impaired social skills and attention deficit hyperactivity disorder (ADHD). He also had mild aortic valve stenosis and high myopia. Using whole-exome sequencing (WES), we identified three variants: (1) SLC6A1, NM_003042.4: c.881-883del (p.Phe294del), (2) NOTCH1, NM_017617.5:c.1100-2A > G and (3) PRIMPOL, NM_152683.4:c.265 T > G (p.Tyr89Asp). Parental Sanger sequencing confirmed that SLC6A1 and NOTCH1 variants were de novo, whereas the PRIMPOL variant was inherited from the father who also had high myopia. Furthermore, the PRIMPOL variant was absent from the genomes of the paternal grandparents, and thus was also a de novo event in the family. All three variants are classified as pathogenic. CONCLUSION: The SLC6A1 variant could explain the features of MAE, delayed language, borderline ID, impaired social skills and ADHD in this patient, whereas the features of aortic valve stenosis and high myopia of the patient may be explained by variants in NOTCH1 and PRIMPOL, respectively. This case demonstrated the utility of exome sequencing in uncovering the multiple pathogenic variants in a patient with complicated phenotypes due to the blending of three Mendelian disorders.

4.
World Neurosurg ; 2020 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-32251807

RESUMO

OBJECTIVE: The present study assessed early mortality (within 1 and 3 months) in patients with primary central nervous system lymphoma (PCNSL) and identified the risk factors associated with early mortality. METHODS: We extracted the data for patients with PCNSL from the Surveillance, Epidemiology, and End Results dataset using the SEER∗Stat, version 8.3.5, software. RESULTS: A total of 8091 patients with PCNSL were enrolled in the present study. Of the 8091 patients, 57.94% were men and 42.06% were women. The mean age was 59.50 ± 16.11 years. The rate of death within 1 and 3 months was 10.67% and 29.16%, respectively. During the past 20 years, early mortality declined significantly. The common causes of early death were non-Hodgkin lymphoma and other infectious and parasitic diseases, including human immunodeficiency virus. Our results showed that gender, age at diagnosis, ethnicity, histological subtype, marital status, tumor location, surgery, radiotherapy, and chemotherapy were associated with early mortality within 1 or 3 months. CONCLUSION: The rate of early mortality has declined significantly during the past 20 years. The risk factors for early mortality within 1 or 3 months after a PCNSL diagnosis included advanced age, male gender, black race, frontal lobe location, unmarried, diffuse large B-cell lymphoma, no surgery, no chemotherapy, and no radiotherapy.

5.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(5): 567-569, 2020 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-32335888

RESUMO

OBJECTIVE: To explore the genotype-phenotype correlation of Cardio-facio-cutaneous syndrome (CFCS) caused by MAP2K1 gene variants. METHODS: Genomic DNA was extracted from peripheral blood sample from a child patient and his parents. Whole exome sequencing (WES) was carried out for the patient. Suspected variant was verified by Sanger sequencing. RESULTS: The patient was a 1-year-8-month old Chinese male who manifested short stature, psychomotor retardation, relative macrocephaly, distinctive facial features, and congenital heart disease. WES test revealed a heterozygous missense c.389A>G (p.Tyr130Cys) variant in the MAP2K1 gene. Sanger sequencing has confirmed the variant as de novo. According to ACMG/AMP guidelines, the variant was classified as pathogenic. CONCLUSION: Compared with previously reported CFCS cases due to MAP2K1 variants. The patient showed obvious behavioral problems, good appetite and tricuspid regurgitation, which may to be novel features for CFCS.

6.
Int J Infect Dis ; 95: 345-346, 2020 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-32283283

RESUMO

Coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has now become a pandemic threat to the whole world. At the same time, influenza virus has been active, with influenza virus and SARS-CoV-2 sharing the same transmission routes. This article aims to alert clinicians of the presence of co-infection with these two viruses and to describe the effect of the measures taken to fight COVID-19 on influenza prevention and control.

7.
Clin Cancer Res ; 2020 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-32234760

RESUMO

PURPOSE: Adults with T-cell lymphoblastic lymphoma (T-LBL) generally benefit from treatment with acute lymphoblastic leukemia (ALL)-like regimens, but approximately 40% will relapse after such treatment. We evaluated the value of CpG methylation in predicting relapse for adults with T-LBL treated with ALL-like regimens. EXPERIMENTAL DESIGN: A total of 549 adults with T-LBL from 27 medical centers were included in the analysis. Using the Illumina Methylation 850K Beadchip, 44 relapse-related CpGs were identified from 49 T-LBL samples by two algorithms: least absolute shrinkage and selector operation (LASSO) and support vector machine-recursive feature elimination (SVM-RFE). We built a four-CpG classifier using LASSO Cox regression based on association between the methylation level of CpGs and relapse-free survival in the training cohort (n = 160). The four-CpG classifier was validated in the internal testing cohort (n = 68) and independent validation cohort (n = 321). RESULTS: The four-CpG-based classifier discriminated patients with T-LBL at high risk of relapse in the training cohort from those at low risk (P < 0.001). This classifier also showed good predictive value in the internal testing cohort (P < 0.001) and the independent validation cohort (P < 0.001). A nomogram incorporating five independent prognostic factors including the CpG-based classifier, lactate dehydrogenase levels, Eastern Cooperative Oncology Group performance status, central nervous system involvement, and NOTCH1/FBXW7 status showed a significantly higher predictive accuracy than each single variable. Stratification into different subgroups by the nomogram helped identify the subset of patients who most benefited from more intensive chemotherapy and/or sequential hematopoietic stem cell transplantation. CONCLUSIONS: Our four-CpG-based classifier could predict disease relapse in patients with T-LBL, and could be used to guide treatment decision.

8.
Drug Deliv ; 27(1): 607-621, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32308054

RESUMO

Chemotherapy is an important method for treating breast cancer. However, multidrug resistance is one of the major challenges in breast cancer chemotherapy. There is an urgent need to develop novel, effective antitumor strategies that will perfect existing therapeutic regimens. In this study, the double-targeted nanocarrier, Quercetin-3'3-dithiodipropionic acid-Astragalus polysaccharides-Folic acid (QDAF), was successfully synthesized and self-assembled into a neoteric nano-targeted delivery strategy, named nano-pomegranates, and which were utilized to effectively inhibit multidrug resistance in estrogen receptor α (ERα)-positive breast tumor. The outstanding abilities of nano-pomegranates to release the drug in a reducing environment was determined by in vitro release assay. The cellular studies in MCF-7 cells were examined that nano-pomegranates have remarkable efficiencies of enhancing cellular uptake, inhibition and necrosis and apoptosis. In vivo antitumor experiments showed that nano-pomegranates have better anti-tumor effects and lower systemic toxicity than free Cur. In conclusion, nano-pomegranates have great potential in anti-breast cancer treatment.

9.
Gynecol Obstet Invest ; : 1-10, 2020 Apr 14.
Artigo em Inglês | MEDLINE | ID: mdl-32289792

RESUMO

BACKGROUND: Intrauterine adhesion (IUA) is the second leading cause of secondary infertility in women. Research has shown that stem cells can promote endometrial regeneration and that biomaterials are also helpful in tissue regeneration. Therefore, we compared the efficacy of a collagen scaffold combined with either human umbilical cord mesenchymal stem cells (hUCMSC) or estrogen for the treatment of IUA. METHODS: The IUA-induced rats were injected with hUCMSCs or estrogen, and with a collagen scaffold. The endometrial glands and amount of fibrosis were assessed using hematoxylin and eosin and Masson staining. The extent of fibrosis and levels of regeneration-related cytokines were examined by real-time quantitative PCR, and the expression levels of the estrogen receptor, KI67 and cytokeratin were analyzed using an immunochemistry assay. In addition, human nuclear antigen (HuNu) and vimentin were examined by immunofluorescence microscopy. RESULTS: The collagen scaffold administered with hUCMSCs markedly increased the number of endometrial glands and reduced the area of fibrosis compared with either the collagen scaffold or hUCMSCs alone. In addition, the collagen scaffold with hUCMSCs significantly regulated the expression levels of fibrosis, estrogen, and differentiation-related genes relative to the collagen scaffold or hUCMSCs alone. Furthermore, the hUCMSCs alone or in combination with the collagen scaffold increased the expression of HuNu and vimentin in the IUA-induced rat model. In addition, protein levels of the p-transcriptional co-activator with PDZ-binding motif, stromal cell-derived factor-1, and C-X-C chemokine receptor type 4 were upregulated in the group that received the collagen scaffold in combination with -hUCMSCs. CONCLUSION: Our results suggest that the combination of the collagen scaffold with hUCMSCs may be an alternative approach for treating IUA.

10.
World Neurosurg ; 138: 474-480, 2020 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-32147554

RESUMO

Ischemic stroke is one of the most intractable diseases of the central nervous system and is also a major cause of mortality and disability in adult humans. Unfortunately, current therapies target vessel recanalization, which has a narrow treatment window, and the potential adverse effects lead to a low rate of clinical employment; in addition, neuroprotective strategies are not effective for stroke treatment. It is necessary to discover new approaches to develop neuroprotective, neuroregenerative treatment strategies for stroke. At present, accumulating evidence suggests that adult neurogenesis is a novel topic with extensive research on its potential to be harnessed for therapy in various neurologic disorders, and the neurogenesis capacity in the subventricular zone was shown to be increased in response to brain ischemic stroke. In this review, we describe the cellular and molecular mechanisms underlying potential adult neurogenesis and review current preclinical and clinical cell-based therapies for enhancing neural regeneration after adult ischemic stroke. Although stroke-induced neurogenesis in humans does not seem to translate to neurofunctional recovery, we also summarize factors of potential treatment strategies with transplanted cells, including transplantation time, cell dosage, and administration route, to achieve optimum and effective cell-based therapy, thereby harnessing this neuroregenerative response to improve neurofunctional recovery after ischemic stroke.

11.
J Neurooncol ; 147(2): 377-386, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32157551

RESUMO

PURPOSE: Given the rarity in the population with adult thalamic gliomas (ATGs), comprehensive characteristics, treatments and survival outcome are not well characterized. This study was conducted to investigate the comprehensive characteristic and treatment of ATGs and identify the prognostic factors associated with overall survival (OS). METHODS: A retrospective analysis of newly diagnosed ATGs who underwent surgical resection consecutively was conducted. Survival analysis of OS was performed by Kaplan-Meier analysis. Cox proportional hazard model was used to investigate the possible prognostic factors associated with OS. RESULTS: A total of 102 patients with ATG were enrolled in this study. The median age was 41 years (range 18-68 years). There were 56 (54.9%) males. Sixty-two patients (60.8%) had glioblastoma (GBM). Among these patients, 46 patients (45.1%) had GTR/NTR, 50 patients (49.0%) had STR and 6 patients (5.9%) had PR. Postoperatively, 71.6% of these patients received adjuvant therapy. The median OS was 13.6 months (range 1 week-75 months). COX regression analysis revealed that ATG patients with longer duration of symptoms (p = 0.024), better pre-KPS (p = 0.045), maximal resection (p = 0.013), or lower tumor grade (p = 0.002) had longer OS, and these predictors are considered as independent prognostic factors. Survival analysis showed that ATGs with GTR/NTR plus chemoradiotherapy had significant OS advantage compared with other treatment regimens. CONCLUSIONS: This study comprehensively summarized the characteristics, treatments and survival outcomes of ATGs in the largest sample size. Maximal surgical resection can bring survival benefit. Combined-modality therapy regimen of GTR/NTR plus chemoradiotherapy may be better beneficial for OS than other regimens.

12.
Plant Physiol ; 182(4): 2006-2024, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32054780

RESUMO

Megasporogenesis is a key step during ovule development in angiosperms, but the small number and inaccessibility of these cells have hampered molecular and genome-wide studies. Thus, many questions remain regarding the molecular basis of cell specification, differentiation, and development in the female gametophyte. Here, taking advantage of the correlation between spikelet length and ovule development in rice (Oryza sativa), we studied the transcriptome dynamics of young ovules at three stages, the archesporial cell, the megaspore mother cell before meiosis, and the functional megaspore after meiosis, using expression profiling based on RNA sequencing. Our analysis showed that 5,274 genes were preferentially expressed in ovules during megasporogenesis as compared to ovules at the mature female gametophyte stage. Out of these, 958 (18.16%) genes were archesporial cell- and/or megaspore mother cell-preferential genes, and represent a significant enrichment of genes involved in hormone signal transduction and plant pathogen interaction pathways, as well as genes encoding transcription factors. The expression patterns of nine genes that were preferentially expressed in ovules of different developmental stages, including the OsERECTA2 (OsER2) receptor-like kinase gene, were confirmed by in situ hybridization. We further characterized the OsER2 loss-of-function mutant, which had an excessive number of female germline cells and an abnormal female gametophyte, suggesting that OsER2 regulates germline cell specification during megasporogenesis in rice. These results expand our understanding of the molecular control of megasporogenesis in rice and contribute to the functional studies of genes involved in megasporogenesis.

13.
Leukemia ; 2020 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-32080345

RESUMO

We aimed to establish a discriminative gene-expression-based classifier to predict survival outcomes of T-cell lymphoblastic lymphoma (T-LBL) patients. After exploring global gene-expression profiles of progressive (n = 22) vs. progression-free (n = 28) T-LBL patients, 43 differentially expressed mRNAs were identified. Then an eleven-gene-based classifier was established using LASSO Cox regression based on NanoString quantification. In the training cohort (n = 169), high-risk patients stratified using the classifier had significantly lower progression-free survival (PFS: hazards ratio 4.123, 95% CI 2.565-6.628; p < 0.001), disease-free survival (DFS: HR 3.148, 95% CI 1.857-5.339; p < 0.001), and overall survival (OS: HR 3.790, 95% CI 2.237-6.423; p < 0.001) compared with low-risk patients. The prognostic accuracy of the classifier was validated in the internal testing (n = 84) and independent validation cohorts (n = 360). A prognostic nomogram consisting of five independent variables including the classifier, lactate dehydrogenase levels, ECOG-PS, central nervous system involvement, and NOTCH1/FBXW7 status showed significantly greater prognostic accuracy than each single variable alone. The addition of a five-miRNA-based signature further enhanced the accuracy of this nomogram. Furthermore, patients with a nomogram score ≥154.2 significantly benefited from the BFM protocol. In conclusion, our nomogram comprising the 11-gene-based classifier may make contributions to individual prognosis prediction and treatment decision-making.

14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(1): 52-56, 2020 Jan 10.
Artigo em Chinês | MEDLINE | ID: mdl-31922597

RESUMO

OBJECTIVE: To delineate the clinical features,inheritance pattern, and genotype-phenotype correlation of a Chinese patient with a 17q25.3 duplication. METHODS: Whole exome sequencing(WES), chromosomal microarray analysis (CMA), chromosomal karyotyping and fluorescence in situ hybridization (FISH) were employed for the analysis of the proband and his family members. RESULTS: A 5.7 Mb duplication at 17q25.3→qter was identified by WES and CMA in the 4-year-old boy with multiple congenital anomalies, which was classified as a clinically pathogenic variant. This duplication was confirmed by FISH, and was inherited from his unaffected mother who carried a balanced translocation. Further study revealed that his grandmother also carried the balanced translocation but had gestated three healthy children and had no abortion history. His uncle also carried the balanced translocation, while his aunt was normal. CONCLUSION: Above results have enriched the clinical phenotypes of 17q25.3 duplication. Genetic counseling was provided for the family. P4HB, ACTG1, BAIAP2 and TBCD genes may underlie the clinical features for the 17q25.3 duplication.


Assuntos
Anormalidades Múltiplas , Duplicação Cromossômica , Cromossomos Humanos Par 17 , Deficiências do Desenvolvimento , Anormalidades Múltiplas/genética , Adulto , Pré-Escolar , China , Cromossomos Humanos Par 17/genética , Deficiências do Desenvolvimento/genética , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Proteínas Associadas aos Microtúbulos , Translocação Genética
15.
BMC Genomics ; 21(1): 72, 2020 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-31973690

RESUMO

BACKGROUND: Calcium-dependent protein kinase (CPK) is one of the main Ca2+ combined protein kinase that play significant roles in plant growth, development and response to multiple stresses. Despite an important member of the stress responsive gene family, little is known about the evolutionary history and expression patterns of CPK genes in pineapple. RESULTS: Herein, we identified and characterized 17 AcoCPK genes from pineapple genome, which were unevenly distributed across eight chromosomes. Based on the gene structure and phylogenetic tree analyses, AcoCPKs were divided into four groups with conserved domain. Synteny analysis identified 7 segmental duplication events of AcoCPKs and 5 syntenic blocks of CPK genes between pineapple and Arabidopsis, and 8 between pineapple and rice. Expression pattern of different tissues and development stages suggested that several genes are involved in the functional development of plants. Different expression levels under various abiotic stresses also indicated that the CPK family underwent functional divergence during long-term evolution. AcoCPK1, AcoCPK3 and AcoCPK6, which were repressed by the abiotic stresses, were shown to be function in regulating pathogen resistance. CONCLUSIONS: 17 AcoCPK genes from pineapple genome were identified. Our analyses provide an important foundation for understanding the potential roles of AcoCPKs in regulating pineapple response to biotic and abiotic stresses.

16.
Artigo em Inglês | MEDLINE | ID: mdl-31947818

RESUMO

In China, many young and middle-aged rural residents move to urban areas each year. The rural elderly are left behind. The number of the rural left-behind elderly is increasing with urbanization, but it is unclear which indicators can be used to assess their health condition. The health risk assessment index system was developed to improve the health level of the rural left-behind elderly. A two-round web-based Delphi process was used to organize the recommendations from fifteen Chinese experts in geriatrics, health management, social psychology who participated in this study. Meaningfulness, importance, modifiability, and comprehensive value of the health risk assessment indicators in the index system were evaluated. The effective recovery rates of the two-round Delphi were 86.67% and 92.31%, respectively. The judgement coefficient and the authority coefficient were 0.87 and 0.82, respectively. The expert familiarity was 0.76. Ultimately, the health risk assessment index system for the rural left-behind elderly consisted of five first-level indicators, thirteen second-level indicators, and sixty-six third-level indicators. The final indicators can be used to evaluate the health of the rural left-behind elderly and provide the basis for additional health risk interventions.

17.
Geriatr Nurs ; 2020 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-31959415

RESUMO

Frailty is the most common manifestation of serious health issues in the world, and it is becoming more prevalent worldwide as the aging population grows. Changes that occur in an individual during the aging process have physical, psychological, social, and environmental aspects that make an individual more frail. In China, older people may live in communities for aging individuals. This study aimed to describe the presence and severity of frailty and to analyze influencing factors among this population in China. The Frailty Index 35 (FI-35) scale, which includes 35 items in physical, psychological, social, and environmental domains, was used to investigate frailty. The FI-35 score ranges from zero to one, with a score closer to one indicating greater frailty. Biographical, socioeconomic, and lifestyle factors were measured as potential determinants of frailty. We relied on the November 2017-February 2018 waves of the Chinese cross-sectional study survey that comprised a sample of 513 adults, aged 60 or older, who were living in China. Linear regression was performed to identify factors associated with FI-35 scores. We categorized the determinants of frailty into three models: Model 1: biographical variables; Model 2: biographical and socioeconomic variables; and Model 3: biographical, economic, and lifestyle variables. Frailty scores ranged from 0.00 to 0.89, with a median of 0.31, and the prevalence of frailty was 67.6%. The final model obtained after variable selection included age, minority status, marriage status, income, diet, and exercise. The adjusted R-squared indicated that the analysis explained 13.8% of the variance in frailty scores. Adding household, marriage status, education level, medical insurance, and income as elements in Model 2 explained 25.7%. Adding diet, smoking, drinking, exercise, and hobbies in Model 3 explained 27.9%. The degree of frailty varies considerably among Chinese community-dwelling older people and is partly determined by biographical, socioeconomic, and lifestyle factors.

18.
World Neurosurg ; 136: e496-e503, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31954903

RESUMO

OBJECTIVE: The present study evaluated the early death and factors associated with early mortality in patients with glioma. METHODS: The data used for analysis in the present study was extracted from the Surveillance, Epidemiology, and End Results data set. RESULTS: A total of 58,700 patients with glioma were enrolled in the present study. The proportion of patient death within 1 month and 3 months after the diagnosis was 9.24% and 19.15% for all patients, respectively. The factors significantly associated with death within 1 month after tumor resection on multivariate analysis included age at diagnosis, year of diagnosis, tumor location, histological features, tumor size, and the absence of gross total resection, radiotherapy, and chemotherapy. We also observed similar findings in the evaluation of the factors associated with 3-month mortality. CONCLUSION: The early deaths rates, including 1 and 3 months after tumor resection in patients with glioma, have decreased slightly during the previous 40 years. The risk factors for early mortality included advanced age, male sex, tumor located in the lateral ventricle, cerebellum, or brainstem, receipt of biopsy only, no chemotherapy or radiotherapy, and specific histopathological types.


Assuntos
Neoplasias Encefálicas/mortalidade , Glioma/mortalidade , Adolescente , Adulto , Distribuição por Idade , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mortalidade Prematura , Fatores de Risco , Programa de SEER , Estados Unidos/epidemiologia , Adulto Jovem
19.
Plant J ; 2020 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-31944421

RESUMO

Angiosperm reproductive development is a complex event that includes floral organ development, male and female gametophyte formation and interaction between the male and female reproductive organs for successful fertilization. Previous studies have revealed the redundant function of ATP binding cassette subfamily G (ABCG) transporters ABCG1 and ABCG16 in pollen development, but whether they are involved in other reproductive processes is unknown. Here we show that ABCG1 and ABCG16 were not only expressed in anthers and stamen filaments but also enriched in pistil tissues, including the stigma, style, transmitting tract and ovule. We further demonstrated that pistil-expressed ABCG1 and ABCG16 promoted rapid pollen tube growth through their effects on auxin distribution and auxin flow in the pistil. Moreover, disrupted auxin homeostasis in stamen filaments was associated with defective filament elongation. Our work reveals the key functions of ABCG1 and ABCG16 in reproductive development and provides clues for identifying ABCG1 and ABCG16 substrates in Arabidopsis.

20.
Eur J Med Genet ; 63(1): 103611, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30615951

RESUMO

Xia-Gibbs syndrome is a rare genetic condition characterized by intellectual disability, growth retardation, delayed psychomotor development with absent or poor expressive language, distinctive facial features, hypotonia, laryngomalacia and obstructive sleep apnea. At present, Xia-Gibbs syndrome has been reported to be mainly caused by truncating mutations in AHDC1 gene located on chromosome 1p36.11. However, the evidence supporting AHDC1 deletion as a cause of this syndrome is still limited. Here we report an 8-year-old boy carrying a de novo 575 Kb microdeletion at 1p36.11 including AHDC1 gene. The boy is characterized by intellectual disability, developmental delay, short stature, expressive language delay, facial dysmorphism, obstructive sleep apnea and multiple congenital anomalies, which are mostly consistent with the characteristics of Xia-Gibbs syndrome. Therefore, we provide further supporting evidence that AHDC1 deletion causes Xia-Gibbs syndrome through a haploinsufficiency mechanism. Currently, clinical consequences of AHDC1 gene duplication has never been reported. Here, we identify a de novo 480 Kb duplication at 1p36.11p35.3 spanning the entire AHDC1 gene in a 2-year-8-month boy, who displays similar clinical features with that of Xia-Gibbs syndrome, in particular, expressive language delay, hypotonia, laryngomalacia and obstructive sleep apnea, as well as mirrored phenotypes such as overgrowth and advanced bone age. WES test excludes to the degree possible other known genetic causes. This case suggests that AHDC1 gene duplication may be clinical significance.

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