Stimulated Raman Scattering Microscopy Reveals Aberrant Triglyceride Accumulation in Lymphatic Metastasis of Papillary Thyroid Carcinoma.

Lipid metabolic alterations are known to play a crucial role in cancer metastasis. As a key hub in lipid metabolism, intracellular neutral lipid accumulation in lipid droplets (LDs) has become a signature of aggressive human cancers. Nevertheless, it remains unclear whether lipid accumulation displays distinctive features in metastatic lesions compared to the primary ones. Here, we integrated multicolor stimulated Raman scattering (SRS) imaging with confocal Raman spectroscopy on the same platform to quantitatively analyze the amount and composition of LDs in intact human thyroid tissues in situ without any processing or labeling. Inspiringly, we found aberrant accumulation of triglycerides (TGs) in lymphatic metastases but not in normal thyroid, primary papillary thyroid carcinoma (PTC), or normal lymph node. In addition, the unsaturation degree of unsaturated TGs was significantly higher in the lymphatic metastases from patients diagnosed with late-stage (T3/T4) PTC compared to those of patients diagnosed with early-stage (T1/T2) PTC. Furthermore, both public sequencing data analysis and our RNA-seq transcriptomic experiment showed significantly higher expression of alcohol dehydrogenase-1B (ADH1B), which is critical to lipid uptake and transport, in lymphatic metastases relative to the primary ones. In summary, these findings unravel the lipid accumulation as a novel marker and therapeutic target for PTC lymphatic metastasis that has a poor response to the regular radioactive iodine therapy.

Deep learning model for predicting postoperative survival of patients with gastric cancer.

Background: Prognostic prediction for surgical treatment of gastric cancer remains valuable in clinical practice. This study aimed to develop survival models for postoperative gastric cancer patients. Methods: Eleven thousand seventy-five patients from the Surveillance, Epidemiology, and End Results (SEER) database were included, and 122 patients from the Chinese database were used for external validation. The training cohort was created to create three separate models, including Cox regression, RSF, and DeepSurv, using data from the SEER database split into training and test cohorts with a 7:3 ratio. Test cohort was used to evaluate model performance using c-index, Brier scores, calibration, and the area under the curve (AUC). The new risk stratification based on the best model will be compared with the AJCC stage on the test and Chinese cohorts using decision curve analysis (DCA), the net reclassification index (NRI), and integrated discrimination improvement (IDI). Results: It was discovered that the DeepSurv model predicted postoperative gastric cancer patients' overall survival (OS) with a c-index of 0.787; the area under the curve reached 0.781, 0.798, 0.868 at 1-, 3- and 5- years, respectively; the Brier score was below 0.25 at different time points; showing an advantage over the Cox and RSF models. The results are also validated in the China cohort. The calibration plots demonstrated good agreement between the DeepSurv model's forecast and actual results. The NRI values (test cohort: 0.399, 0.288, 0.267 for 1-, 3- and 5-year OS prediction; China cohort:0.399, 0.288 for 1- and 3-year OS prediction) and IDI (test cohort: 0.188, 0.169, 0.157 for 1-, 3- and 5-year OS prediction; China cohort: 0.189, 0.169 for 1- and 3-year OS prediction) indicated that the risk score stratification performed significantly better than the AJCC staging alone (P < 0.05). DCA showed that the risk score stratification was clinically useful and had better discriminative ability than the AJCC staging. Finally, an interactive native web-based prediction tool was constructed for the survival prediction of patients with postoperative gastric cancer. Conclusion: In this study, a high-performance prediction model for the postoperative prognosis of gastric cancer was developed using DeepSurv, which offers essential benefits for risk stratification and prognosis prediction for each patient.

Metabolomics assisted by transcriptomics analysis to reveal metabolic characteristics and potential biomarkers associated with treatment response of neoadjuvant therapy with TCbHP regimen in HER2 + breast cancer.

BACKGROUND: This study aimed to explore potential indicators associated with the neoadjuvant efficacy of TCbHP regimen (taxane, carboplatin, trastuzumab, and pertuzumab) in HER2 + breast cancer (BrCa) patients. METHODS: A total of 120 plasma samples from 40 patients with HER2 + BrCa were prospectively collected at three treatment times of neoadjuvant therapy (NAT) with TCbHP regimen. Serum metabolites were analyzed based on LC-MS and GC-MS data. Random forest was used to establish predictive models based on pre-therapeutic differentially expressed metabolites. Time series analysis was used to obtain potential monitors for treatment response. Transcriptome analysis was performed in nine available pre­therapeutic specimens of core needle biopsies. Integrated analyses of metabolomics and transcriptomics were also performed in these nine patients. qRT-PCR was used to detect altered genes in trastuzumab-sensitive and trastuzumab-resistant cell lines. RESULTS: Twenty-one patients achieved pCR, and 19 patients achieved non-pCR. There were significant differences in plasma metabolic profiles before and during treatment. A total of 100 differential metabolites were identified between pCR patients and non-pCR patients at baseline; these metabolites were markedly enriched in 40 metabolic pathways. The area under the curve (AUC) values for discriminating the pCR and non-PCR groups from the NAT of the single potential metabolite [sophorose, N-(2-acetamido) iminodiacetic acid, taurine and 6-hydroxy-2-aminohexanoic acid] or combined panel of these metabolites were greater than 0.910. Eighteen metabolites exhibited potential for monitoring efficacy. Several validated genes might be associated with trastuzumab resistance. Thirty-nine altered pathways were found to be abnormally expressed at both the transcriptional and metabolic levels. CONCLUSION: Serum-metabolomics could be used as a powerful tool for exploring informative biomarkers for predicting or monitoring treatment efficacy. Metabolomics integrated with transcriptomics analysis could assist in obtaining new insights into biochemical pathophysiology and might facilitate the development of new treatment targets for insensitive patients.

The development of a prediction model based on deep learning for prognosis prediction of gastrointestinal stromal tumor: a SEER-based study.

Accurately predicting the prognosis of Gastrointestinal stromal tumor (GIST) patients is an important task. The goal of this study was to create and assess models for GIST patients' survival patients using the Surveillance, Epidemiology, and End Results Program (SEER) database based on the three different deep learning models. Four thousand five hundred thirty-eight patients were enrolled in this study and divided into training and test cohorts with a 7:3 ratio; the training cohort was used to develop three different models, including Cox regression, RSF, and DeepSurv model. Test cohort was used to evaluate model performance using c-index, Brier scores, calibration, and the area under the curve (AUC). The net benefits at risk score stratification of GIST patients based on the optimal model was compared with the traditional AJCC staging system using decision curve analysis (DCA). The clinical usefulness of risk score stratification compared to AJCC tumor staging was further assessed using the Net Reclassification Index (NRI) and Integrated Discrimination Improvement (IDI). The DeepSurv model predicted cancer-specific survival (CSS) in GIST patients showed a higher c-index (0.825), lower Brier scores (0.142), and greater AUC of receiver operating characteristic (ROC) analysis (1-year ROC:0.898; 3-year:0.853, and 5-year ROC: 0.856). The calibration plots demonstrated good agreement between the DeepSurv model's forecast and actual results. The NRI values ( training cohort: 0.425 for 1-year, 0.329 for 3-year and 0.264 for 5-year CSS prediction; test cohort:0.552 for 1-year,0.309 for 3-year and 0.255 for 5-year CSS prediction) and IDI (training cohort: 0.130 for 1-year,0.141 for 5-year and 0.155 for 10-year CSS prediction; test cohort: 0.154 for 1-year,0.159 for 3-year and 0.159 for 5-year CSS prediction) indicated that the risk score stratification performed significantly better than the AJCC staging alone (P < 0.001). DCA demonstrated the risk score stratification as more clinically beneficial and discriminatory than AJCC staging. Finally, an interactive native web-based prediction tool was constructed for the survival prediction of GIST patients. This study established a high-performance prediction model for projecting GIST patients based on deep learning, which has advantages in predicting each person's prognosis and risk stratification.

Correlation Between Preoperative and Postoperative Alignment and Kinematic Gait in Total Knee Arthroplasty.

Objective: Maintaining the lower limb in a neutral posture following total knee arthroplasty (TKA) has long been a concept maintained by operators. This study aimed to investigate the relationship between changes in lower limb alignment and the dynamics of knee gait before and after TKA to understand the impact of alignment on gait better and offer a theoretical foundation for correcting lower limb alignment in TKA. Methods: Our study included a group of 20 participants. The cohort consisted of 1 male and 19 females, 11 left and 9 right knees, ages 58 to 81. Using the Opti_Knee® Knee Motion Test System with infrared reflective markers and a high-speed camera, the step length and 6 degrees of freedom of the knee were recorded. Following that, we investigated the association between HKA angle and knee kinematic gait before and after surgery. Results: For preoperative HKA angles ranging from -28° to -3°, we observed increased step length, flexion-extension rotation, and varus-valgus rotation with an increase in HKA angle. Conversely, an increase in HKA angle from -3 ° to 15° corresponded with decreased step length, flexion-extension rotation, and varus-valgus rotation. An increase in HKA angle from 1° to 3° postoperatively increased step length, flexion-extension rotation, and varus-valgus rotation. In contrast, increasing the HKA angle from 3° to 5° resulted in less flexion-extension rotation. The flexion-extension rotation was at its maximum when the HKA angle was 3°. A 3° postoperative varus resulted in improved kinematic gait. Step length, varus-valgus rotation, and flexion-extension rotation increased with increasing HKA angle in the neutral alignment group. In contrast, the non-neutral alignment group exhibited decreased flexion-extension rotation as the HKA angle increased, while step length and varus-valgus rotation increased as the HKA angle increased. The varus-valgus rotation was statistically significant (P < .05) in the preoperative versus early postoperative period in the 6 degrees of freedom. Conclusions: A 3° varus alignment was found to have a superior postoperative knee kinematic gait, implying that a 3° varus alignment may be more suitable as a new gold standard for TKA than the traditional "0°" alignment. The neutral alignment group demonstrated a better knee kinematic gait than the non-neutral alignment group. During early postoperative walking, significant improvements in varus-valgus rotation were found in the 6 degrees of knee freedom.

Quantification of Hepatic Steatosis on Dual-Energy CT in Comparison With MRI mDIXON-Quant Sequence in Breast Cancer.

OBJECTIVE: The study aimed to evaluate the correlation and diagnostic value of liver fat quantification in unenhanced dual-energy CT (DECT) using quantitative magnetic resonance imaging (MRI) mDIXON-Quant sequence as reference standard in patients with breast cancer. METHODS: Patients with breast cancer were prospectively recruited between June 2018 and April 2020. Each patient underwent liver DECT and MRI mDIXON-Quant examination. The DECT-fat volume fraction (FVF) and liver-spleen attenuation differences were compared with the MRI-proton density fat fraction using scatterplots, Bland-Altman plots, and concordance correlation coefficient. Receiver operating characteristic curves were established to determine the diagnostic accuracy of hepatic steatosis by DECT. RESULTS: A total of 216 patients with breast cancer (mean age, 50.08 ± 9.33 years) were evaluated. The DECT-FVF correlated well with MRI-proton density fat fraction ( r2 = 0.902; P < 0.001), which was higher than the difference in liver-spleen attenuation ( r2 = 0.728; P < 0.001). Bland-Altman analysis revealed slight positive bias; the mean difference was 3.986. The DECT-FVF yielded an average concordance correlation coefficient of 0.677, which was higher than the difference of liver-spleen attenuation (-0.544). The DECT-FVF and the difference in liver-spleen attenuation both lead to mild overestimation of hepatic steatosis. The areas under the curve of DECT-FVF (0.956) were higher than the difference in liver-spleen attenuation (0.807) in identifying hepatic steatosis ( P < 0.001). CONCLUSIONS: Dual-energy CT-FVF may serve as a reliable screening and quantitative tool for hepatic steatosis in patients with breast cancer.

One Pot Synthesis of Nanofiber-Coated Magnetic Composites as Magnetic Dispersive Solid-Phase Extraction Adsorbents for Rapid Determination of Tetracyclines in Aquatic Food Products.

A magnetic adsorbent based on a C-nanofiber (Fe3O4@C-NFs) nanocomposite was synthesized using a simple one-pot co-precipitation method. The characterized results showed that the obtained C-nanofiber-coated magnetic nanoparticles had many attractive features such as a large specific surface area and a highly interwoven and branched mesoporous structure, as well as distinguished magnetism. The nanocomposite was then used as an adsorbent in the magnetic solid phase extraction (MSPE) of four typical tetracyclines (oxytetracycline, tetracycline, chlortetracycline, and doxycycline) in aquatic products. The TCs in the extract were determined using ultra-high-performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS). Experimental variables of MSPE, including the sorbent amount, pH condition, adsorption and desorption time, and desorption solvent, were investigated and optimized systematically. The method validation indicated that the developed method showed good linearity (R2 > 0.995) in the range of 1.0-200 ng/mL. The average recoveries at the spiked levels ranged from 90.7% to 102.7% with intra-day and inter-day relative standard deviations (RSDs, n = 6) ranging from 3.72% to 8.17% and 4.20% to 9.69%, respectively. The limit of detection (LOD) and limit of quantification (LOQ) for the four kinds of TCs were 0.7 µg/kg and 2.0 µg/kg, respectively. Finally, MSPE based on C-nanofiber-coated magnetic nanoparticles was successfully applied to TC analysis in real aquatic products (grass carp, large yellow croaker, snakehead, mandarin fish, Penaeus vannamei, swimming crab, etc.). Compared with traditional extraction methods, the proposed method for TC analysis in aquatic products is more sensitive, effective, recyclable, and environmentally friendly.

Chiral-Flux-Phase-Based Topological Superconductivity in Kagome Systems with Mixed Edge Chiralities.

Recent studies have attracted intense attention on the quasi-2D kagome superconductors AV_{3}Sb_{5} (A=K, Rb, and Cs) where the unexpected chiral flux phase (CFP) associates with the spontaneous time-reversal symmetry breaking in charge density wave states. Here, commencing from the 2-by-2 charge density wave phases, we bridge the gap between topological superconductivity and time-reversal asymmetric CFP in kagome systems. Several chiral topological superconductor (TSC) states featuring distinct Chern numbers emerge for an s-wave or a d-wave superconducting pairing symmetry. Importantly, these CFP-based TSC phases possess unique gapless edge modes with mixed chiralities (i.e., both positive and negative chiralities), but with the net chiralities consistent with the Bogoliubov-de Gennes Chern numbers. We further study the transport properties of a two-terminal junction, using Chern insulator or normal metal leads via atomic Green's function method with Landauer-Büttiker formalism. In both cases, the normal electron tunneling and the crossed Andreev reflection oscillate as the chemical potential changes, but together contribute to plateau transmissions (1 and 3/2, respectively) that exhibit robustness against disorder. These behaviors can be regarded as the signature of a TSC hosting edge states with mixed chiralities.

Real-time evolution dynamics during transitions between different dissipative soliton states in a single fiber laser.

Various dissipative soliton solutions exist in the parameter space of mode-locked fiber lasers, including both coherent and incoherent pulses. Novel ultrafast laser designs can lead to distinctive dissipative soliton solutions formed by unique pulse shaping dynamics in the same cavity. However, transitionary states in between steady-state mode-locked regimes remain largely unexplored. Here, we investigate the intermediate transition dynamics in a versatile Tm-doped fiber laser capable of emitting both dissipative solitons with anomalous-dispersion and normal-dispersion pulse-shaping mechanisms by adjusting an intracavity polarization controller. Real-time pulse dynamics during mode-locking transitions are analyzed with a modified dispersive Fourier transform setup, illustrating characteristic pulse shaping mechanisms typically reserved for different dispersion regimes. Combined with a spectral intensity correlation analysis, the coherence evolution between two distinct mode-locked states is fully resolved for the first time.

Real-time and accurate estimation of surgical hemoglobin loss using deep learning-based medical sponges image analysis.

Real-time and accurate estimation of surgical hemoglobin (Hb) loss is essential for fluid resuscitation management and evaluation of surgical techniques. In this study, we aimed to explore a novel surgical Hb loss estimation method using deep learning-based medical sponges image analysis. Whole blood samples of pre-measured Hb concentration were collected, and normal saline was added to simulate varying levels of Hb concentration. These blood samples were distributed across blank medical sponges to generate blood-soaked sponges. Eight hundred fifty-one blood-soaked sponges representing a wide range of blood dilutions were randomly divided 7:3 into a training group (n = 595) and a testing group (n = 256). A deep learning model based on the YOLOv5 network was used as the target region extraction and detection, and the three models (Feature extraction technology, ResNet-50, and SE-ResNet50) were trained to predict surgical Hb loss. Mean absolute error (MAE), mean absolute percentage error (MAPE), coefficient (R2) value, and the Bland-Altman analysis were calculated to evaluate the predictive performance in the testing group. The deep learning model based on SE-ResNet50 could predict surgical Hb loss with the best performance (R2 = 0.99, MAE = 11.09 mg, MAPE = 8.6%) compared with other predictive models, and Bland-Altman analysis also showed a bias of 1.343 mg with narrow limits of agreement (- 29.81 to 32.5 mg) between predictive and actual Hb loss. The interactive interface was also designed to display the real-time prediction of surgical Hb loss more intuitively. Thus, it is feasible for real-time estimation of surgical Hb loss using deep learning-based medical sponges image analysis, which was helpful for clinical decisions and technical evaluation.

Development and validation of survival prediction model for gastric adenocarcinoma patients using deep learning: A SEER-based study.

Background: The currently available prediction models, such as the Cox model, were too simplistic to correctly predict the outcome of gastric adenocarcinoma patients. This study aimed to develop and validate survival prediction models for gastric adenocarcinoma patients using the deep learning survival neural network. Methods: A total of 14,177 patients with gastric adenocarcinoma from the Surveillance, Epidemiology, and End Results (SEER) database were included in the study and randomly divided into the training and testing group with a 7:3 ratio. Two algorithms were chosen to build the prediction models, and both algorithms include random survival forest (RSF) and a deep learning based-survival prediction algorithm (DeepSurv). Also, a traditional Cox proportional hazard (CoxPH) model was constructed for comparison. The consistency index (C-index), Brier score, and integrated Brier score (IBS) were used to evaluate the model's predictive performance. The accuracy of predicting survival at 1, 3, 5, and 10 years was also assessed using receiver operating characteristic curves (ROC), calibration curves, and area under the ROC curve (AUC). Results: Gastric adenocarcinoma patients were randomized into a training group (n = 9923) and a testing group (n = 4254). DeepSurv showed the best performance among the three models (c-index: 0.772, IBS: 0.1421), which was superior to that of the traditional CoxPH model (c-index: 0.755, IBS: 0.1506) and the RSF with 3-year survival prediction model (c-index: 0.766, IBS: 0.1502). The DeepSurv model produced superior accuracy and calibrated survival estimates predicting 1-, 3- 5- and 10-year survival (AUC: 0.825-0.871). Conclusions: A deep learning algorithm was developed to predict more accurate prognostic information for gastric cancer patients. The DeepSurv model has advantages over the CoxPH and RSF models and performs well in discriminative performance and calibration.

Floquet Engineering of Nonequilibrium Valley-Polarized Quantum Anomalous Hall Effect with Tunable Chern Number.

Here, we propose that Floquet engineering offers a strategy to realize the nonequilibrium quantum anomalous Hall effect (QAHE) with tunable Chern number. Using first-principles calculations and Floquet theorem, we unveil that QAHE related to valley polarization (VP-QAHE) is formed from the hybridization of Floquet sidebands in the two-dimensional family MSi2Z4 (M = Mo, W, V; Z = N, P, As) by irradiating circularly polarized light (CPL). Through the tuning of frequency, intensity, and handedness of CPL, the Chern number of VP-QAHE is highly tunable and up to C = ±4, which attributes to light-induced trigonal warping and multiple-band inversion at different valleys. The chiral edge states and quantized plateau of Hall conductance are visible inside the global band gap, thereby facilitating the experimental measurement. Our work not only establishes Floquet engineering of nonequilibrium VP-QAHE with tunable Chern number in realistic materials but also provides an avenue to explore emergent topological phases under light irradiation.

Protective effect of laparoscopic functional total mesorectal excision on urinary and sexual functions in male patients with mid-low rectal cancer.

BACKGROUND: Urinary and sexual dysfunctions are among the most common complications in rectal cancer surgery. This study aimed to investigate the protective effect of laparoscopic functional total mesorectum excision (TME) on urinary and sexual functions in male patients. METHODS: A total of 248 male patients with mid-low rectal cancer were recruited in this study between February 2017 and July 2020. To overcome selection bias, we performed a 1:1 match using six variables, including age, BMI, ASA score, tumor distance, clinical T stage, and tumor size. The urinary function was assessed by the International Prostate Symptom Score (IPSS), sexual function was assessed by a 5-item version of the International Index of Erectile Function (IIEF-5) and ejaculation grading at postoperative 3 and 12 months. RESULTS: 79 patients received functional TME surgery (FTME group), and 169 patients received routine TME surgery (RTME group). After the propensity score, 79 pairs were balanced and analyzed. Patients in the FTME group showed a lower IPSS score and higher IIEF-5 score than patients in the RTME group at postoperative 3 and 12 months. The incidence of ejaculation dysfunction for patients in the FTME group was lower than patients in the RTME group at postoperative 3 and 12 months. CONCLUSION: Laparoscopic functional total mesorectal excision was beneficial to faster recovery of urinary and sexual function for patients with rectal cancer, and it could be used as a superior surgical technique for pelvic autonomic nerve preservation in mid-low rectal cancer.

Berry-Curvature Engineering for Nonreciprocal Directional Dichroism in Two-Dimensional Antiferromagnets.

In two-dimensional antiferromagnets, we find that the mixed Berry curvature can be attributed as the geometrical origin of the nonreciprocal directional dichroism (NDD), which refers to the difference in light absorption between opposite propagation directions. This Berry curvature is closely related to the uniaxial strain in accordance with the symmetry constraint, leading to a highly tunable NDD, whose sign and strength can be tuned via strain direction. We choose the lattice model of MnBi_{2}Te_{4} as a concrete example. The coupling between mixed Berry curvature and strain also suggests the magnetic quadrupole of the Bloch wave packet as the macroscopic order parameter probed by the NDD in two dimensions, which is distinct from the multiferroic order P×M or the spin toroidal and quadrupole order within a unit cell in previous studies. Our work paves the way for the Berry-curvature engineering for optical nonreciprocity in two-dimensional antiferromagnets.

Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.

BACKGROUND: Brugada syndrome (Brs) and long QT syndrome (LQTs) are the most observed "inherited primary arrhythmia syndromes" and "channelopathies", which lead to sudden cardiac death. METHODS: Detailed clinical information of Brs and LQTs patients was collected. Genomic DNA samples of peripheral blood were conducted for whole-exome sequencing on the Illumina HiSeq 2000 platform. Then, we performed bioinformatics analysis for 200 genes susceptible to arrhythmias and cardiomyopathies. Protein interaction and transcriptomic co-expression were analyzed using the online website and GTEx database. RESULTS: All sixteen cases of Brs and six cases of LQTs were enrolled in the current study. Four Brs carried known pathogenic or likely pathogenic of single-point mutations, including SCN5A p.R661W, SCN5A p.R965C, and KCNH2 p.R692Q. One Brs carried the heterozygous compound mutations of DSG2 p.F531C and SCN5A p.A1374S. Two Brs carried the novel heterozygous truncated mutations (MAF < 0.001) of NEBL (p.R882X) and NPPA (p.R107X), respectively. Except for the indirect interaction between NEBL and SCN5A, NPPA directly interacts with SCN5A. These gene expressions had a specific and significant positive correlation in myocardial tissue, with high degrees of co-expression and synergy. Two Brs carried MYH7 p.E1902Q and MYH6 p.R1820Q, which were predicted as "damaging/possibly damaging" and "damaging/damaging" by Polyphen and SIFT algorithm. Two LQTs elicited the pathogenic single splicing mutation of KCNQ1 (c.922-1G > C). Three LQTs carried a single pathogenic mutation of SCN5A p.R1880H, KCNH2 p.D161N, and KCNQ1 p.R243S, respectively. One patient of LQTs carried a frameshift mutation of KCNH2 p. A188Gfs*143. CONCLUSIONS: The truncated mutations of NEBL (p.R882X) and NPPA (p.R107X) may induce Brugada syndrome by abnormally affecting cardiac sodium channel. SCN5A (p.R661W, p.R965C and p.A1374S) and KCNH2 (p.R692Q) may cause Brugada syndrome, while SCN5A (p.R1880H), KCNQ1 (c.922-1G > C and p.R243S) and KCNH2 (p.D161N and p.A188Gfs*143) may lead to long QT syndrome.

A novel mutation of the NF1 gene in a Chinese family with neurofibromatosis type 1.

BACKGROUND: Mutations in the neurofibromin 1 (NF1) gene are associated with clinical manifestations of neurofibromatosis type 1 (NF1). OBJECTIVE: To clarify the relationship between NF1 variants and disease phenotype. METHODS: Peripheral blood samples were collected from a patient and her relatives and genomic DNA was extracted for next-generation sequencing (NGS) to detect potential variants; the results were validated by Sanger sequencing. RESULTS: A novel frameshift variant c.4508_c.4509delAT (p.Asn1503fsTer26) was detected in exon 34 of the NF1 gene in the patient and her daughter, but not in any other (healthy) family member. This c.4508_c.4509delAT (p.Asn1503fsTer26) frameshift variant of NF1 may underlie NF1 in this family. CONCLUSIONS: This finding expands the spectrum of pathogenic mutations of the NF1 gene, which could aid genetic counseling and prenatal diagnosis.

NEMO Gene Mutations in Two Chinese Females with Incontinentia Pigmenti.

Purpose: To identify the mutations of the NEMO gene in two Chinese females with incontinentia pigmenti. Patients and Methods: Patients were both from Nanchong, Sichuan Province. Genomic DNA was extracted from the peripheral blood of patients and patient 1's father. The mutations of the NEMO gene in patient 1 by GAP polymerase chain reaction and Sanger sequencing and her father were detected. NEMO-specific polymerase chain reaction and Sanger sequencing were used to identify the NEMO gene mutation in patient 2. Results: DNA analysis identified a rare frameshift mutation, c.723_c.724insCAGG(p.A242QfsX15) in exon 5 of the NEMO gene in patient 1 with a family history but not in her healthy father. The common deletion of exons 4-10 of the NEMO gene was found in sporadic patient 2. Conclusion: Our data revealed that the rare frameshift mutation, c.723_c.724insCAGG(p.A242QfsX15) in exon 5 of the NEMO gene in patient 1 and the deletion of exons 4-10 of the NEMO gene in patient 2 could cause the occurrence of IP. Genetic testing is helpful for early diagnosis and genetic counseling for families.

Significance of Nerve Plane for Inferior Mesenteric Plexus Preservation in Laparoscopic Rectal Cancer Surgery.

Background: Station 253 node dissection with high ligation of the inferior mesenteric artery (IMA) is difficult to perform without damage to the surrounding autonomic nerve plexuses. This study aimed to investigate the significance of the nerve plane for inferior mesenteric plexus (IMP) preservation in laparoscopic rectal cancer surgery. Methods: A total of 56 consecutive rectal patients underwent laparoscopic en bloc station 253 node dissection with high ligation of the IMA. Station 253 nodes were divided into the extra- and intra-nerve plane station 253 nodes for further H&E staining and immunohistochemical analysis. Based on IMP nerve plane-based evidence and histopathological results, a novel nerve-sparing technique, IMP nerve plane orientation, was proposed and performed on 68 rectal cancer patients. Urinary and sexual functions in all patients were evaluated at 6 months postoperatively. Results: Lymph node metastasis was not found, but abundant nerve bundles containing gangliocytes were observed in extra-nerve plane station 253 nodes. The nerve plane was identified intraoperatively and then confirmed by both postoperative gross specimen evaluation and histopathological analysis. The novel nerve-sparing technique (IMP nerve plane orientation) was successfully performed with no postoperative complications, and the operated patients had improved postoperative urinary and sexual functions. Conclusion: The nerve plane is helpful for IMP preservation and station 253 node dissection. This novel nerve-sparing technique of nerve plane orientation is technically feasible and safe, which could result in faster recovery of urinary and sexual functions.

Real-time observation of chaotic and periodic explosions in a mode-locked Tm-doped fiber laser.

We experimentally characterize the dynamics of soliton explosions in a transient chaotic state between a single and double pulsing state, as well as periodic explosions induced by soliton collisions in a dual wavelength soliton state. These explosions occurring in a thulium-doped linear fiber laser with net anomalous dispersion are characterized with real-time measurements based on a modified time-stretched dispersive Fourier transform method relying on second-harmonic generation.

Fiber-Reinforced Polymer-Confined Non-Circular Columns with Shape Modification: A Comprehensive Review.

The implementation of shape modification (SM) to reinforced concrete (RC) columns has been demonstrated to be effective when enhancing the effectiveness of the fiber-reinforced polymer (FRP) confinement of the columns, particularly for non-circular columns. The SM approach generally includes modifying a square section into a circular one, modifying a rectangular section into an elliptical/oval one and modifying a square/rectangular section into a curvilinearized square/rectangular section. In this paper, a state-of-the-art review of studies on FRP-confined non-circular columns with SM is conducted. The effects of key parameters on the effectiveness of FRP confinement are discussed, and different methods for the implementation of SM in real applications are briefly introduced. The findings of the review further confirm the effectiveness of the SM approach, and the test results demonstrate the effectiveness and advantages of section curvilinearization with a limited increase in cross-sectional area. Additionally, existing theoretical models for FRP-confined concrete in columns with SM are summarized. Further research opportunities associated with FRP-confined non-circular columns with SM are identified.