Publications by authors named "Yaping Yang"

289 Publications

Magnetic resonance imaging radiomics signatures for predicting endocrine resistance in hormone receptor-positive non-metastatic breast cancer.

Breast 2021 Sep 11;60:90-97. Epub 2021 Sep 11.

Breast Tumor Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Guangzhou, China; Department of Medical Oncology, Phase I Clinical Trial Centre, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Guangzhou, China. Electronic address:

Background: One-third of patients with hormone receptor (HR)-positive breast cancers fail to respond to hormone therapy, and some patients even progress within two years of adjuvant endocrine therapy (ET) toward primary endocrine resistance. However, there is no effective way to predict endocrine resistance.

Objective: To build a model that incorporates the radiomic signature of pretreatment magnetic resonance imaging (MRI) with clinical information to predict endocrine resistance.

Methods: Clinical data of non-metastatic breast cancer patients diagnosed between May 1, 2015 and December 31, 2018 and preoperative dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) were retrospectively collected from three hospitals in China. The significant clinicopathological characteristics and radiomic signatures were included in multivariable logistic regression to establish a combined model to predict endocrine resistance in the training set, and validate the internal and external validation set.

Results: A total of 744 female non-metastatic breast cancer patients from three hospitals in China were included. In the training cohort, the AUC of the Radiomic-Clinical combined model to predict endocrine resistance was 0.975, which was higher than clinical model (0.849), IHC4 model (0.682) and similar as radiomic model (0.941). Also, the AUC of the combined model in the internal (0.921) and external validation cohort (0.955) were higher than clinical model and IHC4 model. The sensitivity of combined model was higher than radiomic alone, and got the best thresholding of the AUC.

Conclusion: This study developed and validated a pretreatment multiparametric MRI-based radiomic-clinical combined model and showed good performance in predicting endocrine resistance.
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http://dx.doi.org/10.1016/j.breast.2021.09.005DOI Listing
September 2021

Group membership moderates the process of making trust judgments based on facial cues.

J Soc Psychol 2021 Aug 17:1-12. Epub 2021 Aug 17.

Department of Psychology, Ningbo University, Ningbo, Zhejiang Province, China.

Trust is a foundation of interpersonal communication. Faces have a significant impact on trust judgments, and separate research demonstrates that group membership also influences trust judgments. However, it remains unclear whether and how group membership moderates the effect of face trustworthiness on trust judgments and investment decisions. In the present research, two experiments were conducted to explore the moderating effect of group membership (i.e., in-group vs. out-group) on perceptions of facial trustworthiness and trust judgments. Results showed that participants invested significantly more money on trials with trustworthy faces than trials with untrustworthy faces. Additionally, there was a significant interaction between group membership and facial trustworthiness; the investment difference between trustworthy faces and untrustworthy faces was greater for trials with in-group member faces than out-group member faces. These findings indicate that top-down and bottom-up cues jointly influence behavioral decisions.
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http://dx.doi.org/10.1080/00224545.2021.1939249DOI Listing
August 2021

Neoadjuvant everolimus plus letrozole versus fluorouracil, epirubicin and cyclophosphamide for ER-positive, HER2-negative breast cancer: a randomized pilot trial.

BMC Cancer 2021 Jul 27;21(1):862. Epub 2021 Jul 27.

Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Breast Tumor Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Yanjiang West Road 107#, Guangzhou, China.

Background: Here we evaluated the feasibility, efficacy, tolerability, and treatment-mediated immune modulation of neoadjuvant everolimus plus letrozole versus chemotherapy in treating postmenopausal patients with ER-positive, HER2-negative breast cancer.

Methods: Postmenopausal women with ER-positive, HER2-negative breast cancer who had a primary tumor > 2 cm or positive axillary lymph node(s) proofed by biopsy were randomly (1,1) enrolled to receive neoadjuvant everolimus plus letrozole for 18 weeks or fluorouracil, epirubicin plus cyclophosphamide (FEC) for 6 cycles before surgery. Primary outcome was feasibility of the trial. Secondary outcome included ultrasound response rate, pathological complete response rate, breast-conserving surgery rate, toxicities, treatment-mediated immune modulation and biomarkers.

Results: Forty patients were randomized. Completion rate was 90.0% in the neoadjuvant endocrine therapy (NET) arm but 70.0% in the neoadjuvant chemotherapy (NAC) arm. The ultrasound response rate was 65.0% in NET arm and 40.0% in FEC arm, respectively. In terms of the adverse events, clearly favored NET arm. Everolimus plus letrozole increased the ratio of peripheral Tregs to CD4 T cells and tumor PD-L1 expression, and decreased Ki67 index and tumor-infiltrating Tregs, and patients with a greater increase of tumor-specific CTLs showed more sensitive to NET.

Conclusion: This pilot trial showed that neoadjuvant everolimus plus letrozole might achieve a favorable ultrasound response rate with low toxicities in treating postmenopausal ER-positive, HER2-negative breast cancer patients. Everolimus plus letrozole might have positive antitumoral immunity effects. Further large randomized controlled trials are needed to confirm our findings.

Trail Registration: A Trial of Neoadjuvant Everolimus Plus Letrozole Versus FEC in Women With ER-positive, HER2-negative Breast Cancer, registered on 07/04/2016 and first posted on 18/04/2016, NCT02742051 .
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http://dx.doi.org/10.1186/s12885-021-08612-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8317384PMC
July 2021

Murine Ifit3 restricts the replication of Rabies virus both and .

J Gen Virol 2021 07;102(7)

State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University, Wuhan 430070, PR China.

Rabies virus (RABV) infection can initiate the host immune defence response and induce an antiviral state characterized by the expression of interferon (IFN)-stimulated genes (ISGs), among which the family of genes of IFN-induced protein with tetratricopeptide repeats (Ifits) are prominent representatives. Herein, we demonstrated that the mRNA and protein levels of Ifit1, Ifit2 and Ifit3 were highly increased in cultured cells and mouse brains after RABV infection. Recombinant RABV expressing Ifit3, designated rRABV-Ifit3, displayed a lower pathogenicity than the parent RABV in C57BL/6 mice after intramuscular administration, and Ifit3-deficient mice exhibited higher susceptibility to RABV infection and higher mortality during RABV infection. Moreover, compared with their individual expressions, co-expression of Ifit2 and Ifit3 could more effectively inhibit RABV replication . These results indicate that murine Ifit3 plays an essential role in restricting the replication and reducing the pathogenicity of RABV. Ifit3 acts synergistically with Ifit2 to inhibit RABV replication, providing further insight into the function and complexity of the Ifit family.
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http://dx.doi.org/10.1099/jgv.0.001619DOI Listing
July 2021

A new nomogram for predicting the malignant diagnosis of Breast Imaging Reporting and Data System (BI-RADS) ultrasonography category 4A lesions in women with dense breast tissue in the diagnostic setting.

Quant Imaging Med Surg 2021 Jul;11(7):3005-3017

Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Breast Tumor Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.

Background: Biopsy has been recommended for Breast Imaging Reporting and Data System (BI-RADS) category 4 lesions. However, the malignancy rate of category 4A lesions is very low (2-10%). Therefore, most biopsies of category 4A lesions are benign, and the results will generally cause additional health care costs and patient anxiety.

Methods: A prediction model was developed based on an analysis of 418 BI-RADS ultrasonography (US) category 4A patients at Sun Yat-sen Memorial Hospital. Univariate and multivariate logistic regression analyses were applied to identify significant variables for inclusion in the final nomogram. The predictive accuracy and discriminative ability were evaluated using the concordance index (C-index) and calibration curves. An independent cohort of 97 patients from the Second Affiliated Hospital of Guangzhou Medical University was used for external validation.

Results: The independent risk factors from the multivariate analysis for the training cohort were family history of breast cancer (OR =4.588, P=0.004), US features [margin (OR =2.916, P=0.019), shape (irregular oval, OR =2.474, P=0.044; round oval, OR =1.935, P=0.276), parallel orientation not parallel (OR =2.204, P=0.040)], low suspicious lymph nodes (OR =7.664, P=0.019), and suspicious calcifications on mammography (MG) (OR =6.736, P=0.001). The C-index was good in the training [0.813, 95% confidence interval (95% CI), 0.733 to 0.893] and validation cohorts (0.765, 95% CI, 0.584 to 0.946). The calibration curves showed optimal agreement between the nomogram prediction and actual observations for the probability of malignancy. Also, the cutoff score was set to 100 for discriminating high and low risk. The model performed well in discerning different risk groups.

Conclusions: We developed a well-discriminated and calibrated nomogram to predict the malignancy of BI-RADS US category 4A lesions in dense breast tissue, which may help clinicians identify patients at lower or higher risk.
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http://dx.doi.org/10.21037/qims-20-1203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8250024PMC
July 2021

Biting pain reproduced by the Tooth Slooth: aid for early diagnosis of cracked tooth.

Quintessence Int 2021 Jul 8;0(0). Epub 2021 Jul 8.

Objective: The purpose of this study was to find a reliable method to reproduce biting pain to facilitate an early diagnosis of cracked tooth and to verify the feasibility of the Tooth Slooth in diagnosing a cracked tooth.

Method And Materials: In this study, 46 intact teeth diagnosed as cracked teeth were selected. Patients were asked to bite wet cotton rolls and the Tooth Slooth, and clinical findings were recorded. The difference in the relevance ratio between these two bite test methods was determined.

Results: The relevance ratio of biting pain by the Tooth Slooth and wet cotton rolls was 91.3% and 32.6%, respectively. There was a statistically significant difference between these two bite tests (P < .001).

Conclusions: Within the limitations of this study, the relevance ratio of biting pain by the Tooth Slooth was significantly higher than that of the wet cotton rolls. The Tooth Slooth was a reliable method to reproduce biting pain and was useful for early diagnosis of cracked teeth.
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http://dx.doi.org/10.3290/j.qi.a41498DOI Listing
July 2021

Phase-Changing in Graphite Assisted by Interface Charge Injection.

Nano Lett 2021 Jul 24;21(13):5648-5654. Epub 2021 Jun 24.

National Graphene Institute, University of Manchester, Oxford Road, Manchester, M13 9PL, United Kingdom.

Among many phase-changing materials, graphite is probably the most studied and interesting: the rhombohedral (3R) and hexagonal (2H) phases exhibit dramatically different electronic properties. However, up to now the only way to promote 3R to 2H phase transition is through exposure to elevated temperatures (above 1000 °C); thus, it is not feasible for modern technology. In this work, we demonstrate that 3R to 2H phase transition can be promoted by changing the charged state of 3D graphite, which promotes the repulsion between the layers and significantly reduces the energy barrier between the 3R and 2H phases. In particular, we show that charge transfer from lithium nitride (α-LiN) to graphite can lower the transition temperature down to 350 °C. The proposed interlayer slipping model potentially offers the control over topological states at the interfaces between different phases, making this system even more attractive for future electronic applications.
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http://dx.doi.org/10.1021/acs.nanolett.1c01225DOI Listing
July 2021

Chiral interaction of an atom in a sandwiched waveguide.

Opt Express 2021 May;29(11):16182-16196

The chiral interaction between light and matter is mainly caused by the spin-momentum locking and makes the chiral quantum optics enter a vigorous development stage. Here, we explore the condition of the perfect chiral interaction between an atom possessing circular dipole and the surface plasmon polariton (SPP) mode. The realization of the perfect chiral interaction must satisfy the following two conditions at the same time. First, the SPP mode should possess the transverse circular polarization; and second, the atom decays mainly into the SPP mode, while the decay through other channel can be ignored. In this paper, we adopt a simple but effective structure to satisfy both of requirements, which is the sandwiched waveguide made of metal. We found that the transverse circular polarization of SPP mode might be achieved within the structure possessing multiple interfaces instead of the interface separating two semi-infinite materials. In our model, the decay rate into SPP mode overwhelms that through traveling wave, which provides higher quantum efficiency. What's more, we found that only the symmetric TM-polarized SPP mode might get the transverse circular polarization. For the sandwiched structure containing metal, the existence of two SPP modes weakens the overall chiral interaction. However, the structure containing left-handed materials (LHMs), which can only support one symmetric TM-polarized SPP mode, can get the nearly perfect chiral interaction. We measure the chiral interaction through the decay rate, radiation field distribution and the unidirectional rate through the energy flux. Our work provides a reference for exploring the perfect chiral interaction in more complex structures and has potential and wide applicability to other optical processes.
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http://dx.doi.org/10.1364/OE.425351DOI Listing
May 2021

Ischemia Injury induces mPTP opening by reducing Sirt3.

Neuroscience 2021 08 11;468:68-74. Epub 2021 Jun 11.

National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Advanced Innovation Center for Human Brain Protection, Capital Medical University, Beijing, China; Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China. Electronic address:

Mitochondrial permeability transition pore (mPTP) opening is critical to mitochondrial apoptosis during ischemic injury. Sirtuin 3 (Sirt3) is a mitochondrial deacetylase known to play a major role in stress resistance and cell death. Our previous studies have shown that Sirt3 activates superoxide dismutase 2 and forkhead box O3a to reduce cellular reactive oxygen species. However, it is unclear the interaction between Sirt3 and mPTP and the roles they play in ischemic stroke. We used the middle cerebral artery occlusion (MCAO) model, a mouse model of stroke, to examine Sirt3 and mPTP-related protein levels. We then applied lentivirus packaged Sirt3 overexpression in HT22 cells, a mouse hippocampal neuronal cell line, to investigate the underlying mechanism. We found Sirt3 protein level was decreased in the penumbra area in MCAO mice, along with an increase in mPTP related proteins, namely voltage-dependent anion channel 1 (VDAC1) and adenine nucleotide translocator 1 (ANT1). Sirt3 overexpression suppressed the increase in VDAC1, ANT1 and cleaved caspase 3 that were induced by the serum and glucose deprivation (SGD) condition. Our studies suggest that ischemic injury induced mPTP opening and apoptosis by reducing Sirt3. It helps to identify new therapeutic targets for ischemic stroke.
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http://dx.doi.org/10.1016/j.neuroscience.2021.06.003DOI Listing
August 2021

Pituitary Adenylate Cyclase-Activating Polypeptide Protects Against Cognitive Impairment Caused by Chronic Cerebral Hypoperfusion.

Mol Neurobiol 2021 May 17. Epub 2021 May 17.

National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

Background: Pituitary adenylate cyclase-activating polypeptide (PACAP) has beneficial effects in learning and memory. However, the mechanism by which PACAP improves cognitive impairment of vascular dementia (VaD) is not clear.

Methods: We established a VaD model by bilateral common carotid stenosis (BCAS) to investigate the molecular mechanism of cognitive impairment. Protein levels of PACAP, Sirtuin 3 (Sirt3), brain-derived neurotrophic factor (BDNF), and postsynaptic density 95 (PSD-95) were assessed by Western blot. In vitro, oxygen glucose deprivation (OGD) was used to simulate the ischemia/hypoxia state. HT22 cells were transfected with Sirt3 knockdown and overexpression to study the relationship between PACAP, Sirt3, and BDNF. In vivo, PACAP was administered intranasally to assess its protective effects on BCAS.

Results: The study showed that the levels of PACAP, Sirt3, BDNF, and PSD-95 were decreased in the BCAS model of VaD. PACAP increased the protein levels of Sirt3, BDNF, PSD-95, Bcl-2, and Bax under OGD condition in vitro. Sirt3 regulated BDNF and synaptic plasticity. Intranasal PACAP increased the protein levels of PAC1, Sirt3, BDNF, and PSD-95 in vivo.

Conclusions: This study provides evidence that PACAP regulates synaptic plasticity and plays an antiapoptotic role through Sirt3.
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http://dx.doi.org/10.1007/s12035-021-02381-2DOI Listing
May 2021

PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.

Clin Genet 2021 08 1;100(2):227-233. Epub 2021 Jun 1.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

PPP3CA encodes the catalytic subunit of calcineurin, a calcium-calmodulin-regulated serine-threonine phosphatase. Loss-of-function (LoF) variants in the catalytic domain have been associated with epilepsy, while gain-of-function (GoF) variants in the auto-inhibitory domain cause multiple congenital abnormalities. We herein report five new patients with de novo PPP3CA variants. Interestingly, the two frameshift variants in this study and the six truncating variants reported previously are all located within a 26-amino acid region in the regulatory domain (RD). Patients with a truncating variant had more severe earlier onset seizures compared to patients with a LoF missense variant, while autism spectrum disorder was a more frequent feature in the latter. Expression studies of a truncating variant showed apparent RNA expression from the mutant allele, but no detectable mutant protein. Our data suggest that PPP3CA truncating variants clustered in the RD, causing more severe early-onset refractory epilepsy and representing a type of variants distinct from LoF or GoF missense variants.
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http://dx.doi.org/10.1111/cge.13979DOI Listing
August 2021

Familial Autonomic Ganglionopathy Caused by Rare Genetic Variants.

Neurology 2021 07 4;97(2):e145-e155. Epub 2021 May 4.

From the Department of Medicine (C.S., J.H.N., B.B., A.D., D.R., I.B.), Department of Ophthalmology and Visual Sciences, Biomedical Engineering (K.J.), Department of Pediatrics (J.A.P., J.C., R.H.), and Department of Biochemistry (J.M., J.C.), Vanderbilt University Medical Center, Nashville, TN; Department of Internal Medicine (J.S.), Washington University in St. Louis, MO; Department of Medical and Molecular Genetics (F.V.), Indiana University School of Medicine, Indianapolis, IN; and Baylor Genetics and Baylor College of Medicine (Y.Y.), Baylor College of Medicine, Houston, TX.

Objective: To determine the molecular basis of a new monogenetic recessive disorder that results in familial autonomic ganglionopathy with diffuse autonomic failure.

Methods: Two adult siblings from one family (I-4 and I-5) and another participant from a second family (II-3) presented with severe neurogenic orthostatic hypotension (nOH), small nonreactive pupils, and constipation. All 3 affected members had low norepinephrine levels and diffuse panautonomic failure.

Results: Whole exome sequencing of DNA from I-4 and I-5 showed compound heterozygosity for c.907_908delCT (p.L303Dfs*115)/c.688 G>A (p.D230N) pathologic variants in the acetylcholine receptor, neuronal nicotinic, α3 subunit gene (). II-3 from the second family was homozygous for the same frameshift (fs) variant (p.L303Dfs*115//p.L303Dfs*115). encodes a critical subunit of the nicotinic acetylcholine receptors (nAChRs) responsible for fast synaptic transmission in the autonomic ganglia. The fs variant is clearly pathogenic and the p.D230N variant is predicted to be damaging (SIFT)/probably damaging (PolyPhen2). The p.D230N variant lies on the interface between CHRNA3 and other nAChR subunits based on structural modeling and is predicted to destabilize the nAChR pentameric complex.

Conclusions: We report a novel genetic disease that affected 3 individuals from 2 unrelated families who presented with severe nOH, miosis, and constipation. These patients had rare pathologic variants in the gene that cosegregate with and are predicted to be the likely cause of their diffuse panautonomic failure.
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http://dx.doi.org/10.1212/WNL.0000000000012143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8279568PMC
July 2021

Upregulated-gene expression of pro-inflammatory cytokines, oxidative stress and apoptotic markers through inflammatory, oxidative and apoptosis mediated signaling pathways in Bovine Pneumonia.

Microb Pathog 2021 Jun 1;155:104935. Epub 2021 May 1.

College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China. Electronic address:

Pneumonia is the acute inflammation of lung tissue and is multi-factorial in etiology. Staphylococcus aureus (S. aureus) is a harmful pathogen present as a normal flora of skin and nares of dairy cattle. In bovine pneumonia, S. aureus triggers to activates Toll-Like Receptors (TLRs), that further elicits the activation of the inflammation via NF-κB pathway, oxidative stress and apoptotic pathways. In the current study, pathogen-associated gene expression of the pro-inflammatory cytokines, oxidative stress and apoptotic markers in the lung tissue of cattle was explored in bovine pneumonia. Fifty lung samples collected from abattoir located in Wuhan city, Hubei, China. Histopathologically, thickening of alveolar wall, accumulation of inflammatory cells and neutrophils in perivascular space, hyperemia, hemorrhages and edema were observed in infected lungs as compared to non-infected lung samples. Furthermore, molecular identification and characterization were carried by amplification of S. aureus-specific nuc gene (270 base pairs) from the infected and non-infected lung samples to identify the S. aureus. Moreover, qPCR results displayed that relative mRNA levels of TLR2, TLR4, pro-inflammatory gene (IL-1β, IL-6 and TNF-α) and apoptosis-associated genes (Bax, caspase-3 and caspase-9) were up-regulated except Bcl-2, which is antiapoptotic in nature, and oxidative stress related genes (Nrf2, NQO1, HO-1 and GCLC) which was down-regulated in infected pulmonary group. The relative protein expression of NF-κB, mitochondria-mediated apoptosis gene was up-regulated while Bcl-2 and Nrf2 pathway genes were downregulated in infected cattle lungs. Our findings revealed that genes expression levels of inflammatory mediators, oxidative stress and apoptosis were associated with host immunogenic regulatory mechanisms in the lung tissue during infection. Conclusively, the present study provides insights of active immune response via TLRs-mediated inflammatory, oxidative damage, and apoptotic paradox.
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http://dx.doi.org/10.1016/j.micpath.2021.104935DOI Listing
June 2021

Specimen number based diagnostic yields of suspicious axillary lymph nodes in core biopsy in breast cancer: clinical implications from a prospective exploratory study.

Quant Imaging Med Surg 2021 May;11(5):2151-2161

Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.

Background: Ultrasound (US)-guided core needle biopsy (CNB) is widely applied in the pathological diagnosis of suspicious axillary lymph nodes (ALNs) in breast cancer. However, the number of specimens removed during biopsy is currently based on the preference of the individual radiologist. This study aims to analyze the specimen number based diagnostic yields of US guided CNB of suspicious ALNs in breast cancer.

Methods: Core biopsy specimens of suspicious lymph nodes were prospectively obtained from breast cancer patients treated at our hospital between November, 2018, and July, 2019. Four specimens were obtained from each patient and labeled 1-4 in the order they were removed. Each specimen underwent pathological evaluation to determine whether metastasis had occurred. The diagnostic yields of the specimens were calculated and differences in diagnostic accuracy according to the number of specimens were evaluated by McNemar's test.

Results: A total of 167 patients were enrolled, and 139 (83.2%) cases were identified as metastasis by CNB. The diagnostic yields were: 74.2% (specimen 1), 87.8% (specimens 1-2), 91.2% (specimens 1-3), and 94.6% (specimens 1-4). The increases in diagnostic yield from specimen 1 to 1-2 and from specimens 1-2 to 1-4 were significant; however, no significant differences were detected between specimens 1-3 and the first two, or between specimens 1-4 and the first three in this sample size. The lower diagnostic abilities for the first two specimens were associated with shorter long- and short-axis lengths of lymph nodes on US.

Conclusions: Although the second specimen contributed significant diagnostic yield of suspicious axillary lymph nodes in core biopsy in breast cancer, a minimum number cannot be determined by this study. Additional specimens may improve diagnostic yield particularly in patients with small nodes.
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http://dx.doi.org/10.21037/qims-20-1030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8047355PMC
May 2021

Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis.

Front Genet 2021 9;12:616392. Epub 2021 Apr 9.

Department of Fetal Medicine, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China.

The purpose of the study was to use exome sequencing (ES) to study the contribution of single-gene disorders to recurrent non-immune hydrops fetalis (NIHF) and retrospectively evaluate the value of genetic diagnosis on prenatal management and pregnancy outcome. From January 2012 to October 2018, a cohort of 28 fetuses with recurrent NIHF was analyzed by trio ES. Fetuses with immune hydrops, non-genetic factors (including infection, etc.), karyotype, or CNV abnormalities were excluded. Variants were interpreted based on ACMG/AMP guidelines. Fetal therapy was performed on seven fetuses. Of the 28 fetuses, 10 (36%) were found to carry causal genetic variants (pathogenic or likely pathogenic) in eight genes (, , , , , , , and ). Five (18%) fetuses had variant(s) of uncertain significance (VUS). Of the 10 fetuses with definitive molecular diagnosis, five (50%) were diagnosed with inborn errors of metabolism. Among the seven fetuses who received fetal therapy, two had definitive molecular diagnosis and resulted in neonatal death. Among the remaining five fetuses with negative results, four had newborn survival and one had intrauterine fetal death. Trio ES could facilitate genetic diagnosis of recurrent NIHF and improve the prenatal management and pregnancy outcome.
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http://dx.doi.org/10.3389/fgene.2021.616392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8063045PMC
April 2021

Interferon-τ regulates the expression and function of bovine leukocyte antigen by downregulating bta-miR-204.

Exp Ther Med 2021 Jun 8;21(6):594. Epub 2021 Apr 8.

Department of Clinical Veterinary Medicine, College of Animal Science and Veterinary Medicine, Huazhong Agricultural University, Wuhan, Hubei 430070, P.R. China.

IFN-τ is a pregnancy recognition factor that regulates embryo implantation in ruminants. IFN-τ has been suggested to be involved in the expression of microRNA (miRNA/miR) and bovine leukocyte antigen (BoLA), which is an analog of the human major histocompatibility complex class I. However, little is known about whether the miRNAs are involved in the expression of BoLA in ruminants. The present study firstly verified that bta-miR-204 was downregulated and that BoLA was upregulated in the uterine tissues of dairy cows during early pregnancy. Subsequently, luciferase reporter assays, reverse transcription-quantitative PCR and western blot analysis were used to validate BoLA as the target gene of bta-miR-204. Moreover, BoLA was markedly upregulated and bta-miR-204 was downregulated in bovine endometrial epithelial cells (bEECs) treated with IFN-τ. In addition, the results indicated that when the expression level of BoLA was increased by IFN-τ, the expression level of programmed death-ligand 1 (PD-L1) and programmed death-ligand 2 (PD-L2) was also increased. Furthermore, when BoLA was silenced in bEECs by small interfering RNA, the expression of PD-L1 and PD-L2 was not affected by IFN-τ. The expression level of PD-L1 and PD-L2 was also increased in the uterine tissues of pregnant dairy cattle. In conclusion, IFN-τ may function by suppressing the expression of bta-miR-204 to increase the expression of BoLA during the embryo implantation period in cattle. IFN-τ may induce PD-L1 and PD-L2 transcription by regulating BoLA, which may influence the T cell immune response, thereby regulating pregnant cattle immunization.
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http://dx.doi.org/10.3892/etm.2021.10026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8056107PMC
June 2021

Heterozygous variants in SPTBN1 cause intellectual disability and autism.

Am J Med Genet A 2021 07 13;185(7):2037-2045. Epub 2021 Apr 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

Spectrins are common components of cytoskeletons, binding to cytoskeletal elements and the plasma membrane, allowing proper localization of essential membrane proteins, signal transduction, and cellular scaffolding. Spectrins are assembled from α and β subunits, encoded by SPTA1 and SPTAN1 (α) and SPTB, SPTBN1, SPTBN2, SPTBN4, and SPTBN5 (β). Pathogenic variants in various spectrin genes are associated with erythroid cell disorders (SPTA1, SPTB) and neurologic disorders (SPTAN1, SPTBN2, and SPTBN4), but no phenotypes have been definitively associated with variants in SPTBN1 or SPTBN5. Through exome sequencing and case matching, we identified seven unrelated individuals with heterozygous SPTBN1 variants: two with de novo missense variants and five with predicted loss-of-function variants (found to be de novo in two, while one was inherited from a mother with a history of learning disabilities). Common features include global developmental delays, intellectual disability, and behavioral disturbances. Autistic features (4/6) and epilepsy (2/7) or abnormal electroencephalogram without overt seizures (1/7) were present in a subset. Identification of loss-of-function variants suggests a haploinsufficiency mechanism, but additional functional studies are required to fully elucidate disease pathogenesis. Our findings support the essential roles of SPTBN1 in human neurodevelopment and expand the knowledge of human spectrinopathy disorders.
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http://dx.doi.org/10.1002/ajmg.a.62201DOI Listing
July 2021

Stereotypes of Social Groups in Mainland China in Terms of Warmth and Competence: Evidence from a Large Undergraduate Sample.

Int J Environ Res Public Health 2021 03 30;18(7). Epub 2021 Mar 30.

Lab of Light and Physiopsychological Health, National Center for International Research on Green Optoelectronics, South China Normal University, Guangzhou 510006, China.

The Stereotype Content Model (SCM) has been validated in multiple countries and regions. However, previous validation studies in China have been limited by small sample size. The current research increased the sample size (n = 184 in the pilot study; n = 1315 and n = 268 in the formal study) to validate the SCM in mainland China in study 1. Supporting the SCM, 41 social groups were clustered into four quadrants based on warmth and competence dimensions. 35 of the 41 target groups (85.37%) receive ambivalent stereotype. Perceived warmth and competence were positively correlated ( = 0.585, < 0.001). Status and competence were positively related ( = 0.81, < 0.001), and competition and warmth were negatively related ( = -0.77, < 0.001). In addition, 24 typical social groups were selected and a list of stereotype words for these groups was developed in study 2 (n = 48, n = 52). The implications of the emerging social groups and the applications of this stereotype word list are discussed.
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http://dx.doi.org/10.3390/ijerph18073559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8037077PMC
March 2021

Development of antisense RNA-mediated quantifiable inhibition for metabolic regulation.

Metab Eng Commun 2021 Jun 19;12:e00168. Epub 2021 Feb 19.

School of Chemical, Materials and Biomedical Engineering, College of Engineering, The University of Georgia, Athens, GA, 30602, USA.

Trans-regulating elements such as noncoding RNAs are crucial in modifying cells, and has shown broad application in synthetic biology, metabolic engineering and RNA therapies. Although effective, titration of the regulatory levels of such elements is less explored. Encouraged by the need of fine-tuning cellular functions, we studied key parameters of the antisense RNA design including oligonucleotide length, targeting region and relative dosage to achieve differentiated inhibition. We determined a 30-nucleotide configuration that renders efficient and robust inhibition. We found that by targeting the core RBS region proportionally, quantifiable inhibition levels can be rationally obtained. A mathematic model was established accordingly with refined energy terms and successfully validated by depicting the inhibition levels for genomic targets. Additionally, we applied this fine-tuning approach for 4-hydroxycoumarin biosynthesis by simultaneous and quantifiable knockdown of multiple targets, resulting in a 3.58-fold increase in titer of the engineered strain comparing to that of the non-regulated. We believe the developed tool is broadly compatible and provides an extra layer of control in modifying living systems.
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http://dx.doi.org/10.1016/j.mec.2021.e00168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7921874PMC
June 2021

Molecular characterization of the viral structural protein genes in the first outbreak of dengue virus type 2 in Hunan Province, inland China in 2018.

BMC Infect Dis 2021 Feb 10;21(1):166. Epub 2021 Feb 10.

Institute of Medical Biology, Chinese Academy of Medical Sciences, and Peking Union Medical College, Kunming, People's Republic of China.

Background: An unexpected dengue outbreak occurred in Hunan Province in 2018. This was the first dengue outbreak in this area of inland China, and 172 cases were reported.

Methods: To verify the causative agent of this outbreak and characterise the viral genes, the genes encoding the structural proteins C/prM/E of viruses isolated from local residents were sequenced followed by mutation and phylogenetic analysis. Recombination, selection pressure, potential secondary structure and three-dimensional structure analyses were also performed.

Results: Phylogenetic analysis revealed that all epidemic strains were of the cosmopolitan DENV-2 genotype and were most closely related to the Zhejiang strain (MH010629, 2017) and then the Malaysia strain (KJ806803, 2013). Compared with the sequence of DENV-2SS, 151 base substitutions were found in the sequences of 89 isolates; these substitutions resulted in 20 non-synonymous mutations, of which 17 mutations existed in all samples (two in the capsid protein, six in the prM/M proteins, and nine in the envelope proteins). Moreover, amino acid substitutions at the 602nd (E322:Q → H) and 670th (E390: N → S) amino acids may have enhanced the virulence of the epidemic strains. One new DNA binding site and five new protein binding sites were observed. Two polynucleotide binding sites and seven protein binding sites were lost in the epidemic strains compared with DENV-2SS. Meanwhile, five changes were found in helical regions. Minor changes were observed in helical transmembrane and disordered regions. The 429th amino acid of the E protein switched from a histamine (positively charged) to an asparagine (neutral) in all 89 isolated strains. No recombination events or positive selection pressure sites were observed. To our knowledge, this study is the first to analyse the genetic characteristics of epidemic strains in the first dengue outbreak in Hunan Province in inland China.

Conclusions: The causative agent is likely to come from Zhejiang Province, a neighbouring province where dengue fever broke out in 2017. This study may help clarify the intrinsic geographical relatedness of DENV-2 and contribute to further research on pathogenicity and vaccine development.
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http://dx.doi.org/10.1186/s12879-021-05823-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7874035PMC
February 2021

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.

Am J Med Genet A 2021 05 31;185(5):1366-1378. Epub 2021 Jan 31.

Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features, is a syndrome resulting from heterozygous variants in the dosage-sensitive bromodomain PHD finger chromatin remodeler transcription factor BPTF gene. To date, only 11 individuals with NEDDFL due to de novo BPTF variants have been described. To expand the NEDDFL phenotypic spectrum, we describe the clinical features in 25 novel individuals with 20 distinct, clinically relevant variants in BPTF, including four individuals with inherited changes in BPTF. In addition to the previously described features, individuals in this cohort exhibited mild brain abnormalities, seizures, scoliosis, and a variety of ophthalmologic complications. These results further support the broad and multi-faceted complications due to haploinsufficiency of BPTF.
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http://dx.doi.org/10.1002/ajmg.a.62102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8048530PMC
May 2021

Ultrasound-Guided Vacuum-assisted Biopsy Versus Surgical Resection in Patients With Breast Desmoid Tumor.

J Surg Res 2021 05 23;261:400-406. Epub 2021 Jan 23.

Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China; Breast Tumor Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China; Bioland Laboratory (Guangzhou Regenerative Medicine and Health Guangdong Laboratory), 510005 Guangzhou, China. Electronic address:

Background: Recent studies suggest that desmoid tumors can be managed more conservatively rather than undergoing wide surgical resection (SR). Ultrasound-guided vacuum-assisted biopsy (UGVAB) is a minimally invasive technique. This retrospective study aimed to compare the outcome in patients with breast desmoid tumor (BDT) who received UGVAB alone versus SR.

Materials And Methods: The pathology database was searched for patients diagnosed with BDT ≤ 3 cm from 2007 to 2019. All patients underwent breast ultrasound examination and were then performed UGVAB alone or local SR. The Kaplan-Meier method with a log-rank test was used as a univariate analysis to compare the relapse-free survival (RFS) rates between UGVAB and SR groups. Cox regression analysis was used for multivariate analysis.

Results: A total of 39 patients were included. The median follow-up was 41 mo (range, 5-110 mo). The incidence of tumor recurrence was 23.1% (9/39). The 3-y cumulative RFS was 83.1% and 95.8% in the UGVAB and SR group, respectively, which was not significantly different between the two groups (P = 0.131, log-rank test). Multivariate analysis also revealed that treatment strategy (UGVAB versus SR) was not associated with an increased risk of relapse events (P = 0.274).

Conclusions: Small desmoid tumors (≤3 cm) after UGVAB alone did not have a significantly compromised RFS compared with those who underwent SR. UGVAB may be an alternative and relatively conservative method for the diagnosis and local control of BDT with a smaller size. A prospective, randomized study with large sample size is needed to confirm this observation.
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http://dx.doi.org/10.1016/j.jss.2020.12.049DOI Listing
May 2021

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.

Ann Neurol 2021 04 8;89(4):828-833. Epub 2021 Feb 8.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.

The Mediator multiprotein complex functions as a regulator of RNA polymerase II-catalyzed gene transcription. In this study, exome sequencing detected biallelic putative disease-causing variants in MED27, encoding Mediator complex subunit 27, in 16 patients from 11 families with a novel neurodevelopmental syndrome. Patient phenotypes are highly homogeneous, including global developmental delay, intellectual disability, axial hypotonia with distal spasticity, dystonic movements, and cerebellar hypoplasia. Seizures and cataracts were noted in severely affected individuals. Identification of multiple patients with biallelic MED27 variants supports the critical role of MED27 in normal human neural development, particularly for the cerebellum. ANN NEUROL 2021;89:828-833.
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http://dx.doi.org/10.1002/ana.26019DOI Listing
April 2021

Differences in Explicit Stereotype Activation among Social Groups Based on the Stereotype Content Model: Behavioral and Electrophysiological Evidence in Chinese Sample.

Brain Sci 2020 Dec 17;10(12). Epub 2020 Dec 17.

Lab of Light and Physiopsychological Health, National Center for International Research on Green Optoelectronics, South China Normal University, Guangzhou 510006, China.

The stereotype content model (SCM; Fiske, Cuddy, Glick and Xu, 2002) identifies four basic categories of stereotyped social groups: high warmth-high competence (HW-HC), high warmth-low competence (HW-LC), low warmth-high competence (LW-HC), and low warmth-low competence (LW-LC). However, many of these groups have not been directly examined in stereotype activation research. The purpose of the present research was to extend stereotype activation research to groups that more fully represent those identified under the SCM. Employing explicit sequential priming task, participants responded to prime-target stimulus pairs that were either congruent or incongruent with stereotypes of social groups from all four SCM quadrants in two studies in the current investigation. Study 1 was to determine the behavioral pattern of explicit stereotype activation among four quadrants (the sample included 60 Chinese undergraduate students, 51%-female). Study 2 further employed event-related brain potentials (ERPs) technique to track the time course and electrophysiological underpinnings of explicit stereotype activation (the sample included 22 right-handed Chinese undergraduate students, 76%-female). In Study 1, participants responded more quickly and accurately on stereotype congruent trials than incongruent trials for all social groups except LW-LC groups. This reverse priming effect on LW-LC social groups in RTs was also replicated in Study 2. ERPs findings further showed that incongruent targets elicited larger N400 amplitudes than congruent targets for all four SCM quadrants. Moreover, congruent targets elicited larger P2 than incongruent targets, but only found for the LW-LC social groups. In addition, congruent targets elicited larger amplitudes of late positive component than incongruent targets for the low warmth (LW-LC and LW-HC) groups. Together, these results highlight the unique processing that LW-LC groups receive throughout the cognitive stream, ultimately manifesting in distinctive behavioral responses. Unconscious activation of egalitarian goals, disgust, and distrust accounts are discussed.
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http://dx.doi.org/10.3390/brainsci10121001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767265PMC
December 2020

Development and validation of a nomogram in survival prediction among advanced breast cancer patients.

Ann Transl Med 2020 Nov;8(21):1446

Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Guangzhou Regenerative Medicine and Health Guangdong Laboratory, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.

Background: The overall survival (OS) among patients with advanced breast cancer (ABC) varies greatly. Although molecular subtype is known as the most important factor in OS differentiation, significant differences in OS among patients with the same molecular subtype still occur, leading to the need for a more accurate prognostic prediction model. This study aimed to develop a prediction model (nomogram) based on current diagnosis and treatment to predict the OS of newly diagnosed ABC patients in China.

Methods: From the institution's database, we collected data of 368 ABC patients from Sun Yat-sen Memorial Hospital (national hospital) as a training set to establish a nomogram with prognostic risk factors that calculated the predicted probability of survival. Nomograms were independently validated with 278 patients with ABC from two other institutions using the concordance index (C-index), calibration plots and risk group stratifications.

Results: The initial primary tumor stage, molecular subtype, disease-free survival (DFS), presence of brain metastasis, and the tumor burden of metastasis disease (local recurrence, oligo-metastatic disease, or multiple-metastatic disease) were included in the prognostic nomogram. The nomogram had a C-index of 0.77 and 0.71 in the training and the validation sets, respectively. The nomogram was able to stratify patients into different risk groups, respectively (HR 6.81, 95% CI: 4.69 to 9.89, P<0.001). In the lower risk score group (risk score <11), there was no significant difference between the OS with chemotherapy and hormone therapy (HR 0.81, 95% CI: 0.44 to 1.47, P=0.48).

Conclusions: We have constructed a novel prediction nomogram that can guide the physicians to select personalized treatment options. Furthermore, our study is the first to add oligo-metastatic disease and primary endocrine/trastuzumab resistance into the prognostic models.
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http://dx.doi.org/10.21037/atm-20-3473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7723627PMC
November 2020

The Effect of Low and High Vacuum Drainage on the Postoperative Drainage of Breast Cancer: Insights from a Prospective, Non-Inferiority, Randomized Clinical Trial.

Cancer Manag Res 2020 3;12:12487-12496. Epub 2020 Dec 3.

Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou 510120, People's Republic of China.

Background: Vacuum drains have been extensively applied to prevent seroma formation after breast surgery. However, the usage of negative suction drainage is mainly determined by surgeon's experience and preferences. The aim of this study is to prospectively compare the drain effect after breast surgery between the low and high vacuum drains.

Methods: This prospectively randomized trial (from January 2018 to June 2019) involved 188 patients who were subjected to modified radical mastectomy (group A, n=128) or immediate breast reconstruction with implants (group B, n=60). In each group, patients were randomized to receive high vacuum drain (pressure=-98 kPa) or low vacuum drain (pressure=-12 kPa) after surgery. Days of drain permanence, which means the duration of drainage, was the primary endpoint.

Results: According to the comparison of days of drain permanence, the effect of a low vacuum drain is not inferior to a high vacuum drain in group A (pectoral drain, <0.001; axillary drain, <0.001) or group B (submuscular drain, =0.002). The complications frequently occurred on patients with high vacuum drain (11.7%), such as seroma formation. The expense of low vacuum drain was significantly lower than high vacuum drain in both groups (<0.01).

Conclusion: The drain effect of the low vacuum drain is not inferior to a high vacuum drain in both group A and group B. The low vacuum drain was effective, relatively cheap, and did not increase the incidence of complications; it is therefore more recommended after breast surgery.
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http://dx.doi.org/10.2147/CMAR.S283031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7721110PMC
December 2020

Development and Validation of a Preoperative Magnetic Resonance Imaging Radiomics-Based Signature to Predict Axillary Lymph Node Metastasis and Disease-Free Survival in Patients With Early-Stage Breast Cancer.

JAMA Netw Open 2020 12 1;3(12):e2028086. Epub 2020 Dec 1.

Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Breast Tumor Centre, Department of Medical Oncology, Phase I Clinical Trial Centre, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.

Importance: Axillary lymph node metastasis (ALNM) status, typically estimated using an invasive procedure with a high false-negative rate, strongly affects the prognosis of recurrence in breast cancer. However, preoperative noninvasive tools to accurately predict ALNM status and disease-free survival (DFS) are lacking.

Objective: To develop and validate dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) radiomic signatures for preoperative identification of ALNM and to assess individual DFS in patients with early-stage breast cancer.

Design, Setting, And Participants: This retrospective prognostic study included patients with histologically confirmed early-stage breast cancer diagnosed at 4 hospitals in China from July 3, 2007, to September 21, 2019, randomly divided (7:3) into development and vaidation cohorts. All patients underwent preoperative MRI scans, were treated with surgery and sentinel lymph node biopsy or ALN dissection, and were pathologically examined to determine the ALNM status. Data analysis was conducted from February 15, 2019, to March 20, 2020.

Exposure: Clinical and DCE-MRI radiomic signatures.

Main Outcomes And Measures: The primary end points were ALNM and DFS.

Results: This study included 1214 women (median [IQR] age, 47 [42-55] years), split into development (849 [69.9%]) and validation (365 [30.1%]) cohorts. The radiomic signature identified ALNM in the development and validation cohorts with areas under the curve (AUCs) of 0.88 and 0.85, respectively, and the clinical-radiomic nomogram accurately predicted ALNM in the development and validation cohorts (AUC, 0.92 and 0.90, respectively) based on a least absolute shrinkage and selection operator (LASSO)-logistic regression model. The radiomic signature predicted 3-year DFS in the development and validation cohorts (AUC, 0.81 and 0.73, respectively), and the clinical-radiomic nomogram could discriminate high-risk from low-risk patients in the development cohort (hazard ratio [HR], 0.04; 95% CI, 0.01-0.11; P < .001) and the validation cohort (HR, 0.04; 95% CI, 0.004-0.32; P < .001) based on a random forest-Cox regression model. The clinical-radiomic nomogram was associated with 3-year DFS in the development and validation cohorts (AUC, 0.89 and 0.90, respectively). The decision curve analysis demonstrated that the clinical-radiomic nomogram displayed better clinical predictive usefulness than the clinical or radiomic signature alone.

Conclusions And Relevance: This study described the application of MRI-based machine learning in patients with breast cancer, presenting novel individualized clinical decision nomograms that could be used to predict ALNM status and DFS. The clinical-radiomic nomograms were useful in clinical decision-making associated with personalized selection of surgical interventions and therapeutic regimens for patients with early-stage breast cancer.
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http://dx.doi.org/10.1001/jamanetworkopen.2020.28086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7724560PMC
December 2020

In situ manipulation of van der Waals heterostructures for twistronics.

Sci Adv 2020 Dec 4;6(49). Epub 2020 Dec 4.

School of Physics and Astronomy, University of Manchester, Oxford Road, Manchester M13 9PL, UK.

In van der Waals heterostructures, electronic bands of two-dimensional (2D) materials, their nontrivial topology, and electron-electron interactions can be markedly changed by a moiré pattern induced by twist angles between different layers. This process is referred to as twistronics, where the tuning of twist angle can be realized through mechanical manipulation of 2D materials. Here, we demonstrate an experimental technique that can achieve in situ dynamical rotation and manipulation of 2D materials in van der Waals heterostructures. Using this technique, we fabricated heterostructures where graphene is perfectly aligned with both top and bottom encapsulating layers of hexagonal boron nitride. Our technique enables twisted 2D material systems in one single stack with dynamically tunable optical, mechanical, and electronic properties.
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http://dx.doi.org/10.1126/sciadv.abd3655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7717928PMC
December 2020

Association of 24-Hour Intraocular Pressure Fluctuation With Corneal Hysteresis and Axial Length in Untreated Chinese Primary Open-Angle Glaucoma Patients.

Transl Vis Sci Technol 2020 11 19;9(12):25. Epub 2020 Nov 19.

Department of Ophthalmology and Visual Science, Eye and Ear Nose Throat Hospital, Shanghai Medical College, Fudan University, Shanghai, China.

Purpose: The purpose of this study was to evaluate the association of 24-hour intraocular pressure (IOP) fluctuation with corneal biomechanics and ocular biometric parameters in Chinese patients with primary open angle glaucoma (POAG) before initial treatment.

Methods: Forty-nine Chinese patients with POAG (98 eyes) were recruited in this study before start of any POAG treatment. The 24-hour IOP was measured with a 2-hour interval by a noncontact tonometer. Corneal biomechanical properties and biometric parameters were measured once during 8 AM to 6 PM before 24-hour IOP measurement.

Results: The 24-hour IOP fluctuation was defined as the differences between the peak and trough IOP measurement and was significantly associated with axial length (AL) in the multivariate analysis. The POAG subjects with AL ≤ 26 mm had significantly larger 24-hour IOP fluctuation but lower corneal hysteresis, compared to those with AL > 26 mm. In addition, subgroup analysis showed that high tension glaucoma subjects had larger 24-hour IOP fluctuation and higher corneal resistance factor than patients with normal tension glaucoma.

Conclusions: This study revealed the association of 24-hour IOP fluctuation with office hour corneal biomechanical properties and AL in patients with POAG. Their contributions to IOP fluctuation should be considered in the risk analysis of glaucoma development and progression.

Translational Relevance: Ocular biometric parameters are related with 24-hour IOP fluctuation in patients with POAG, which is potentially helpful in explaining different progression patterns in different types of patients.
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http://dx.doi.org/10.1167/tvst.9.12.25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7683862PMC
November 2020

Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia.

Clin Genet 2021 03 13;99(3):477-480. Epub 2020 Nov 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1111/cge.13870DOI Listing
March 2021
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