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1.
J Vasc Access ; : 11297298241253299, 2024 May 21.
Article En | MEDLINE | ID: mdl-38770677

INTRODUCTION: This study explored the feasibility of a supporting catheter combined with modified end-to-side anastomosis in the operation of radio-cephalic arteriovenous fistula (RC-AVF) and evaluated the clinical application value of this technique. METHODS: Sixty patients underwent RC-AVF operations in our hospital from January 2022 to June 2022. All the patients were treated with modified end-to-side AVF anastomosis and divided into the control group or the test group depending on whether a supporting catheter was applied. The clinical data of 60 cases were analysed retrospectively. Intraoperative related indices, the first time the fistula was used, the success rate of first puncture, the blood flow of first dialysis, the maturity condition of fistula, the size of anastomosis, the diameter of radial artery and drainage vein, the blood flow of brachial artery 8 weeks after operation and the incidence of complications within 6 months after operation were compared between the two groups. RESULTS: Compared with that in the control group, the time spent on the vascular anastomosis in the test group was significantly shortened (p<0.05). The blood flow of the first dialysis, the size of the anastomosis, the diameter of the drainage vein, the blood flow of the brachial artery 8 weeks after the operation and the incidence of complications within 6 months after operation were significantly different between the two groups (p<0.05). CONCLUSION: In the RC-AVF operation, using a supporting catheter can not only increase operation efficiency by reducing surgical injury and difficulty of vascular anastomosis, but also improve postoperative prognosis. RC-AVF is worth promoting in clinical practice.

2.
Article En | MEDLINE | ID: mdl-38483558

PURPOSE: Traumas cause great casualties, accompanied by heavy economic burdens every year. The study aimed to use ML (machine learning) survival algorithms for predicting the 8-and 24-hour survival of severe traumas. METHODS: A retrospective study using data from National Trauma Data Bank (NTDB) was conducted. Four ML survival algorithms including survival tree (ST), random forest for survival (RFS) and gradient boosting machine (GBM), together with a Cox proportional hazard model (Cox), were utilized to develop the survival prediction models. Following this, model performance was determined by the comparison of the C-index, integrated Brier score (IBS) and calibration curves in the test datasets. RESULTS: A total of 191,240 individuals diagnosed with severe trauma between 2015 and 2018 were identified. Glasgow Coma Scale (GCS), trauma type, age, SaO2, respiratory rate (RR), systolic blood pressure (SBP), EMS transport time, EMS on-scene time, pulse, and EMS response time were identified as the main predictors. For predicting the 8-hour survival with the complete cases, the C-indexes in the test sets were 0.853 (0.845, 0.861), 0.823 (0.812, 0.834), 0.871 (0.862, 0.879) and 0.857 (0.849, 0.865) for Cox, ST, RFS and GBM, respectively. Similar results were observed in the 24-hour survival prediction models. The prediction error curves based on IBS also showed a similar pattern for these models. Additionally, a free web-based calculator was developed for potential clinical use. CONCLUSION: The RFS survival algorithms provide non-parametric alternatives to other regression models to be of clinical use for estimating the survival probability of severe trauma patients.

3.
BMC Bioinformatics ; 24(1): 465, 2023 Dec 08.
Article En | MEDLINE | ID: mdl-38066424

Hierarchical classification offers a more specific categorization of data and breaks down large classification problems into subproblems, providing improved prediction accuracy and predictive power for undefined categories, while also mitigating the impact of poor-quality data. Despite these advantages, its application in predicting primary cancer is rare. To leverage the similarity of cancers and the specificity of methylation patterns among them, we developed the Cancer Hierarchy Classification Tool (CHCT) using the idea of hierarchical classification, with methylation data from 30 cancer types and 8239 methylome samples downloaded from publicly available databases (The Cancer Genome Atlas (TCGA) and the Gene Expression Omnibus (GEO)). We used unsupervised clustering to divide the classification subproblems and screened differentially methylated sites using Analysis of variance (ANOVA) test, Tukey-kramer test, and Boruta algorithms to construct models for each classifier module. After validation, CHCT accurately classified 1568 out of 1660 cases in the test set, with an average accuracy of 94.46%. We further curated an independent validation cohort of 677 cancer samples from GEO and assigned a diagnosis using CHCT, which showed high diagnostic potential with generally high accuracies (an average accuracy of 91.40%). Moreover, CHCT demonstrates predictive capability for additional cancer types beyond its original classifier scope as demonstrated in the medulloblastoma and pituitary tumor datasets. In summary, CHCT can hierarchically classify primary cancer by methylation profile, by splitting a large-scale classification of 30 cancer types into ten smaller classification problems. These results indicate that cancer hierarchical classification has the potential to be an accurate and robust cancer classification method.


Neoplasms , Humans , Neoplasms/diagnosis , Neoplasms/genetics , Algorithms , Epigenome , Methylation , DNA Methylation
4.
Plast Reconstr Surg Glob Open ; 11(11): e5397, 2023 Nov.
Article En | MEDLINE | ID: mdl-38025636

Severe high-voltage electrical burns (HVEBs) to the hand can result in significant injuries, requiring early use of skin flaps or grafts for reconstruction to optimize hand function recovery. However, there is currently a lack of consensus on strategies to improve aesthetics and hand function. We reported a case of severe HVEB on the left hand that was successfully treated by a radial artery perforator flap assisted by artificial dermis (AD) and vacuum sealing drainage (VSD). In phase I, necrotic tissue was removed through debridement while preserving parabiotic tissue. The left thumb was fixed with a Kirschner wire, and the wound was covered with AD and VSD. After 2 weeks, phase II repair surgery was performed using a radial artery perforator flap to cover the wound surface. At 2 weeks after surgery, the skin flap showed good tension and no blood circulation disorders or blister formation. At 12 months after surgery, the flap had not shrunk, and its texture and color closely resembled the surrounding normal tissues. The flap also demonstrated resistance to friction, and there was nearly normal wrist joint mobility. The use of a radial artery perforator flap assisted by AD and VSD provides a simple and effective reconstruction method that preserves important vessels in the forearm, minimizes damage to local cutaneous nerves, and eliminates the need for vascular anastomosis. Therefore, this technique offers advantages in terms of aesthetics and functional improvement for severe HVEBs to the hand, although it has been rarely reported before.

5.
Front Endocrinol (Lausanne) ; 14: 1132915, 2023.
Article En | MEDLINE | ID: mdl-37560298

Background: Most of previous studies on predictive models for patients with small cell lung cancer (SCLC) were single institutional studies or showed relatively low Harrell concordance index (C-index) values. To build an optimal nomogram, we collected clinicopathological characteristics of SCLC patients from Surveillance, Epidemiology, and End Results (SEER) database. Methods: 24,055 samples with SCLC from 2010 to 2016 in the SEER database were analyzed. The samples were grouped into derivation cohort (n=20,075) and external validation cohort (n=3,980) based on America's different geographic regions. Cox regression analyses were used to construct nomograms predicting cancer-specific survival (CSS) and overall survival (OS) using derivation cohort. The nomograms were internally validated by bootstrapping technique and externally validated by calibration plots. C-index was computed to compare the accuracy and discrimination power of our nomograms with the 8th of version AJCC TNM staging system and nomograms built in previous studies. Decision curve analysis (DCA) was applied to explore whether the nomograms had better clinical efficiency than the 8th version of AJCC TNM staging system. Results: Age, sex, race, marital status, primary site, differentiation, T classification, N classification, M classification, surgical type, lymph node ratio, radiotherapy, and chemotherapy were chosen as predictors of CSS and OS for SCLC by stepwise multivariable regression and were put into the nomograms. Internal and external validations confirmed the nomograms were accurate in prediction. C-indexes of the nomograms were relatively satisfactory in derivation cohort (CSS: 0.761, OS: 0.761) and external validation cohort (CSS: 0.764, OS: 0.764). The accuracy of the nomograms was superior to that of nomograms built in previous studies. DCA showed the nomograms conferred better clinical efficiency than 8th version of TNM staging system. Conclusions: We developed practical nomograms for CSS (https://guowei2020.shinyapps.io/DynNom-CSS-SCLC/) and OS (https://drboidedwater.shinyapps.io/DynNom-OS-SCLC/) prediction of SCLC patients which may facilitate clinicians in individualized therapeutics.


Lung Neoplasms , Small Cell Lung Carcinoma , Humans , Neoplasm Staging , Prognosis , Small Cell Lung Carcinoma/diagnosis , Small Cell Lung Carcinoma/therapy , Nomograms , Lung Neoplasms/diagnosis , Lung Neoplasms/therapy
6.
Article Zh | MEDLINE | ID: mdl-37138399

Objective:To investigate the relationship between parathyroid hormone(PTH) level and permanent hypoparathyroidism(PHPP) on the first day after radical papillary thyroidectomy, and its predictive value. Methods:A total of 80 patients with papillary thyroid cancer who underwent total thyroid resection and central lymph node dissection were collected and analyzed from January 2021 to January 2022. According to whether PHPP occurred after surgery, the patients were divided into hypoparathyroidism group and normal parathyroid function group, and univariate and binary logistics regression were used to analyze the correlation between PTH and serum calcium levels and PHPP on the first day after surgery in two groups. The dynamic changes of PTH at different time points after operation were analyzed. The area under the receiver operating characteristic was used to evaluate the predictive power of PTH on the development of PHPP after surgery. Results:Among the 80 patients with papillary thyroid cancer, 10 cases developed PHPP, with an incidence rate of 12.5%. Binary logistics regression analysis showed that PTH on the first postoperative day(OR=14.534, 95%CI: 2.377-88.858, P=0.004) was an independent predictive risk factor for postoperative PHPP. Taking PTH=8.75 ng/L on the first postoperative day as the cut-off value, the AUC of the area under the curve was 0.874(95%CI: 0.790-0.958, P<0.001), the sensitivity was 71.4%, the specificity was 100%, and the Yoden index was 0.714. Conclusion:PTH level on the first day after total thyroid papillary carcinoma surgery is closely related to PHPP, and is an independent predictor of PHPP.


Hypoparathyroidism , Thyroid Neoplasms , Humans , Calcium , Hypoparathyroidism/etiology , Hypoparathyroidism/surgery , Parathyroid Glands , Parathyroid Hormone , Postoperative Complications/surgery , Thyroid Cancer, Papillary/surgery , Thyroid Neoplasms/surgery , Thyroid Neoplasms/complications , Thyroidectomy
7.
Front Immunol ; 13: 987881, 2022.
Article En | MEDLINE | ID: mdl-36211370

Background: This research aimed to investigate the predictive performance of log odds of positive lymph nodes (LODDS) for the long-term prognosis of patients with node-positive lung neuroendocrine tumors (LNETs). Methods: We collected 506 eligible patients with resected N1/N2 classification LNETs from the Surveillance, Epidemiology, and End Results (SEER) database between 2004 and 2015. The study cohort was split into derivation cohort (n=300) and external validation cohort (n=206) based on different geographic regions. Nomograms were constructed based on the derivation cohort and validated using the external validation cohort to predict the 1-, 3-, and 5-year cancer-specific survival (CSS) and overall survival (OS) of patients with LNETs. The accuracy and clinical practicability of nomograms were tested by Harrell's concordance index (C-index), integrated discrimination improvement (IDI), net reclassification improvement (NRI), calibration plots, and decision curve analyses. Results: The Cox proportional-hazards model showed the high LODDS group (-0.79≤LODDS) had significantly higher mortality compared to those in the low LODDS group (LODDS<-0.79) for both CSS and OS. In addition, age at diagnosis, sex, histotype, type of surgery, radiotherapy, and chemotherapy were also chosen as predictors in Cox regression analyses using stepwise Akaike information criterion method and included in the nomograms. The values of C-index, NRI, and IDI proved that the established nomograms were better than the conventional eighth edition of the TNM staging system. The calibration plots for predictions of the 1-, 3-, and 5-year CSS/OS were in excellent agreement. Decision curve analyses showed that the nomograms had value in terms of clinical application. Conclusions: We created visualized nomograms for CSS and OS of LNET patients, facilitating clinicians to bring individually tailored risk assessment and therapy.


Carcinoma, Neuroendocrine , Lung Neoplasms , Neuroendocrine Tumors , Humans , Lung , Lung Neoplasms/diagnosis , Lung Neoplasms/pathology , Lymph Nodes/pathology , Neuroendocrine Tumors/pathology , Nomograms , Prognosis
8.
Int J Pharm ; 628: 122333, 2022 Nov 25.
Article En | MEDLINE | ID: mdl-36283642

This study systematically compared enzalutamide (ENZ) nanocrystals and amorphous formulation (Xtandi® Tablets) and proposed an effective method for predicting pharmacokinetic behavior. ENZ nanosuspensions were prepared by anti-solvent precipitation (ENZ/NS-AS) and wet milling (ENZ/NS-WM) under optimal conditions and were solidified by spray drying and further tableting. Spray dried ENZ/NS-WM was confirmed to exist in crystalline state by DSC and PXRD, while spray dried ENZ/NS-AS was amorphous form. The dissolution testing revealed that ENZ/NS-WM tablets exhibited significantly faster dissolution rate than the physical mixture of untreated ENZ and HPMCAS-HG (1:1) prepared by gently grinding with a mortar and pestle for 2 min and were comparable to Xtandi® Tablets. However, the pharmacokinetic study in beagle dogs indicated that ENZ/NS-WM tablets displayed 0.43-fold lower Cmax and area under the curve from 0 d to 14 d (AUC0-14 d) than Xtandi® Tablets. This difference was well explained by the "spring-parachute" testing, where ENZ/NS-WM tablets exhibited a worse supersaturation performance with 0.46-fold lower supersaturated level (Cspring) and 0.42-fold lower area under the curve of "spring-parachute" process in pH6.8 (AUSPC2-24h) compared to Xtandi® Tablets, indicating that Cspring and AUSPC2-24h obtained from "spring-parachute" testing were better indicators for predicting in vivo behavior than the dissolution rate. Overall, despite the fact that the current nanocrystal formulation did not exhibit advantageous bioavailability, the study provided valuable information and direction for oral drug delivery system based on nano-technology.


Nanoparticles , Animals , Dogs , Biological Availability , Solubility , Tablets/chemistry , Nanoparticles/chemistry
9.
Dalton Trans ; 51(27): 10612-10622, 2022 Jul 12.
Article En | MEDLINE | ID: mdl-35788610

Phosphors with rare earth (RE) ions are widely applied to optical temperature measurements. Moreover, the near-infrared (NIR) emission of phosphors has potential applications in the biological field. Herein, Gd2O3:x%Nd3+/Yb3+(0.2 ≤ x ≤ 0.8) samples are successfully synthesized by the sol-gel method, and their phase and morphology are characterized. The XRD data are refined by Rietveld. Under 980 nm continuous wave (CW) laser excitation, the upconversion (UC) and downshift (DS) emissions are studied. The temperature sensing performances of thermally coupled levels (TCLs) and non-thermally coupled levels (non-TCLs) of Gd2O3: Nd3+/Yb3+ phosphors are investigated through the fluorescence intensity ratio (FIR) technology. In the temperature range of 303-523 K, the maximum relative sensitivity of I761 nm/I550 nm reaches 6.54% K-1, which is based on non-TCLs. At the same time, the maximum relative sensitivity of I761 nm/I1000 nm-1500 nm reaches 3.13%. In addition, the influence of the laser induced heating (LIH) effect is studied. Compared with square wave (SW) pumping, the relative sensitivity would decrease at CW excitation. Finally, the durability and temperature uncertainty are also discussed. The results prove that the Gd2O3:Nd3+/Yb3+ samples present higher relative sensitivity and durability and lower temperature uncertainty in the biological window. Therefore, the phosphors can be used as optical thermometers in the biological field.


Luminescence , Thermometry , Temperature , Thermometers , Ytterbium
10.
Int J Pharm ; 624: 121986, 2022 Aug 25.
Article En | MEDLINE | ID: mdl-35820516

The aim of this study was to investigate the correlation between critical granules characters (including particle size, surface roughness, and apparent porosity) and mechanical properties of press-coated tablets. Granules of a model formulation were prepared through Roll Compaction Granulation (RCG), High Shear Granulation (HSG), and Fluidized Bed Granulation (FBG) to prepare granules with different surface roughness and apparent porosity. The surface roughness and porosity of granules had a significantly greater effect on mechanical properties than the particle size of granules. Whether for brittle or plastic materials, FBG granules with the roughest surface and the greatest apparent porosity exhibited the best compression properties. The elastic recovery test, the interlayer adhesion forces study, the break pattern test, and the X-ray microcomputed tomography investigation suggested that granules with great apparent porosity and rough surfaces could contribute to the production of stable press-coated structures. Moreover, for press-coated tablets prepared using granules, the proper granules in the coat layer could eliminate the side effect of the rigid core on the mechanical strength. The above understandings will be conducive to the selection of compatible and appropriate granules characters, which can enhance mechanical properties and extend the application of press-coated tablets.


X-Ray Microtomography , Drug Compounding/methods , Particle Size , Porosity , Tablets/chemistry , Tensile Strength
11.
Exp Ther Med ; 23(2): 121, 2022 Feb.
Article En | MEDLINE | ID: mdl-34970344

Currently, there are no specific therapeutic agents available for the treatment of coronavirus disease 2019 (Covid-19). The present study aimed to assess the efficacy of high-dose ulinastatin for the treatment of patients with Covid-19. A total of 12 patients hospitalized with confirmed severe acute respiratory syndrome coronavirus 2 infection were treated with a high dose of ulinastatin alongside standard care. Changes in clinical manifestations, laboratory examinations and chest images were retrospectively analyzed. A total of 10 patients with severe Covid-19 and two patients with moderate Covid-19 received ulinastatin treatment. The average age of the patients was 68.0±11.9 years (age range, 48-87 years). In total, nine of the 12 patients (75.0%) had one or more comorbidities. The most common symptoms on admission were fever (8/12, 66.7%), cough (5/12, 41.7%) and dyspnea (5/12, 41.7%). The percentage of lymphocytes was decreased in 41.7% of patients (5/12) and 58.3% of patients (7/12) had elevated hypersensitive C-reactive protein (CRP) levels (mean, 49.70±77.70 mg/l). The white blood cell levels and the percentage of lymphocytes returned to normal in all of the patients, and CRP was significantly decreased and returned to normal in 83.3% of patients (10/12; mean, 6.87±6.63 mg/l) on day 7 after ulinastatin treatment. Clinical symptoms were relieved synchronously. The peripheral oxygen saturation improved and 66.7% of the patients (8/12) did not require further oxygen therapy 7 days after ulinastatin treatment. No patients required intensive care unit admission or mechanical ventilation. All patients revealed different degrees of absorption of pulmonary lesions after treatment. Compared with the standard care group, ulinastatin treatment significantly prevented illness deterioration. In conclusion, these preliminary data revealed that high-dose ulinastatin treatment was safe and exhibited a potential beneficial effect for patients with Covid-19.

12.
Int J Pharm ; 612: 121300, 2022 Jan 25.
Article En | MEDLINE | ID: mdl-34793936

This study aims to explore the influence of wet milling and jet pulverization on the aripiprazole microcrystalline long-acting injection. Crystal form and particle size distribution were taken as inspection indicators in vitro, and process parameters were optimized. The formulation prepared by wet milling (AMLAI-WM) was shown to undergo a slight conversion of crystal form by DSC, PXRD, TG, FT-IR and have a wider particle size distribution with D50 and Span values of 2.967 µm and 3.457 compared to the formulation fabricated by jet pulverization (AMLAI-JP) with 2.887 µm and 2.258 respectively. In addition, the in vitro release of AMLAI-WM was faster, whereby the pharmacokinetic data indicated that AMLAI-WM was absorbed more quickly within five days with AUC0-5d of 5243.7 µg·L-1·h and 4818.28 µg·L-1·h, respectively. Furthermore, no statistically significant differences in Cmax, tmax and AUC between AMLAI-JP and the commercial formulation (Abilify Maintena™) were found. The absorption mechanism was studied and showed a 1.4-fold later Tmax after depletion of macrophages and significantly lower Cmax and AUC after inhibiting angiogenesis, indicating inflammatory granuloma could facilitate drug plasma exposure. Overall, we demonstrated that jet pulverization was a good strategy for long-acting microcrystalline injection, and that the absorption behavior was affected by both particle size distribution and inflammatory granuloma.


Aripiprazole , Spectroscopy, Fourier Transform Infrared
13.
Burns Trauma ; 9: tkab016, 2021.
Article En | MEDLINE | ID: mdl-34337088

BACKGROUND: Hypertrophic scars are one of the main complications that affect the quality of life of patients after burns. Many methods have been shown to be effective in the treatment of hypertrophic scars, such as ablative fractional CO2 laser (AFCL) and platelet-rich plasma (PRP). However, there are few studies on the effect of the combined application of these measures. The purpose of this study was to explore the therapeutic effect of AFCL combined with PRP on hypertrophic burn scars. METHODS: A retrospective clinical observation study was conducted on 50 patients with hypertrophic burn scars. The AFCL+PRP group included 31 patients who received AFCL combined with PRP treatment; the AFCL group included 19 patients who received AFCL treatment only. The University of North Carolina 4P Scar Scale (UNC4P) and the Vancouver Scar Scale (VSS) scores that were collected before each treatment were used as indicators of the effectiveness of the previous treatment. The scores recorded at the second, fourth and seventh months were analysed. RESULTS: The demographic data of the 2 groups were not significantly different. Before treatment, there was no difference in the UNC4P and VSS scores between the 2 groups. There was a significant decline in the UNC4P and VSS total scores over 6 months in both groups (p < 0.05) and scores in the 2 groups were comparable after 3 and 6 months (p < 0.05). UNC4P scores in the AFCL+PRP group decreased from a mean of 8.26 to 2.61 (p < 0.05) with a concomitant drop in VSS scores from a mean of 11.74 to 6.06 (p < 0.01). In the AFCL group UNC4P and VSS scores decreased from 7.68 to 4.63 (p < 0.05) and from 10.89 to 8.16 (p < 0.05), respectively. The sub-items of these 2 assessments were analysed and the results suggest that AFCL combined with PRP can comprehensively improve scarring. CONCLUSIONS: This study shows that PRP is an effective adjunct for AFCL in the treatment of hypertrophic burn scars and that the combination of PRP and AFCL proved to be more useful than AFCL alone. This combination may be a new and effective clinical practice for the treatment of scars. However, larger and higher-level clinical studies are still needed to determine its efficacy and possible mechanisms.

14.
J Phys Condens Matter ; 33(47)2021 Sep 10.
Article En | MEDLINE | ID: mdl-34438384

We study the entanglement properties of non-Hermitian free fermionic models with translation symmetry using the correlation matrix technique. Our results show that the entanglement entropy has a logarithmic correction to the area law in both one-dimensional and two-dimensional systems. For any one-dimensional one-band system, we prove that each Fermi point of the system contributes exactly 1/2 to the coefficientcof the logarithmic correction. Moreover, this relation betweencand Fermi point is verified for more general one-dimensional and two-dimensional cases by numerical calculations and finite-size scaling analysis. In addition, we also study the single-particle and density-density correlation functions.

15.
Exp Eye Res ; 207: 108570, 2021 06.
Article En | MEDLINE | ID: mdl-33844962

PURPOSE: To identify the spectrum and frequency of mutations in congenital ectopia lentis (CEL) and to investigate the correlations between genotype and clinical phenotype in Chinese CEL patients. METHODS: Ninety-three participants with CEL were enrolled from March 2017 to April 2020. Ocular and systemic examinations were performed for each included patient. Genomic DNA from the included patients was analysed by whole-exome sequencing to detect mutations. Clinical manifestations were compared for different mutation subgroups. RESULTS: Gene mutations were detected in 79 patients. Sixty-five were FBN1-associated, and most were related to Marfan syndrome (MFS). The FBN1 mutations mainly consisted of missense mutations (49/65) and were concentrated in the 5' region. Probands with missense mutations tend to show high corneal astigmatism (χ2 = 3.98, P = 0.046) and severe lens dislocation (t = 2.90, P = 0.006) compared to premature termination codon (PTC) mutations. CONCLUSIONS: Most Chinese CEL patients were identified as having FBN1 mutations. Those with missense mutations commonly showed severe ocular phenotypes; therefore, reinforced follow-up and long-term observation are required. These correlations implicated the crucial role of missense and cysteine-involving mutations in ocular phenotypes, which might be explained by dominant-negative and nonsense-mediated mRNA decay (NMD).


Asian People/genetics , Ectopia Lentis/genetics , Fibrillin-1/genetics , Mutation, Missense , Adolescent , Adult , Child , Child, Preschool , China/epidemiology , Ectopia Lentis/epidemiology , Female , Genetic Association Studies , Genetic Predisposition to Disease , Humans , Male , Marfan Syndrome/genetics , Middle Aged , Prospective Studies , Exome Sequencing
16.
BMC Neurol ; 21(1): 96, 2021 Mar 02.
Article En | MEDLINE | ID: mdl-33653295

BACKGROUND: Due to large genetic and phenotypic heterogeneity, the conventional workup for Charcot-Marie-Tooth (CMT) diagnosis is often underpowered, leading to diagnostic delay or even lack of diagnosis. In the present study, we explored how bioinformatics analysis on whole-exome sequencing (WES) data can be used to diagnose patients with CMT disease efficiently. CASE PRESENTATION: The proband is a 29-year-old female presented with a severe amyotrophy and distal skeletal deformity that plagued her family for over 20 years since she was 5-year-old. No other aberrant symptoms were detected in her speaking, hearing, vision, and intelligence. Similar symptoms manifested in her younger brother, while her parents and her older brother showed normal. To uncover the genetic causes of this disease, we performed exome sequencing for the proband and her parents. Subsequent bioinformatics analysis on the KGGSeq platform and further Sanger sequencing identified a novel homozygous GDAP1 nonsense mutation (c.218C > G, p.Ser73*) that responsible for the family. This genetic finding then led to a quick diagnosis of CMT type 4A (CMT4A), confirmed by nerve conduction velocity and electromyography examination of the patients. CONCLUSIONS: The patients with severe muscle atrophy and distal skeletal deformity were caused by a novel homozygous nonsense mutation in GDAP1 (c.218C > G, p.Ser73*), and were diagnosed as CMT4A finally. This study expanded the mutation spectrum of CMT disease and demonstrated how affordable WES could be effectively employed for the clinical diagnosis of unexplained phenotypes.


Charcot-Marie-Tooth Disease/diagnosis , Exome Sequencing/methods , Nerve Tissue Proteins/genetics , Adult , Asian People , Charcot-Marie-Tooth Disease/genetics , Child, Preschool , China , Codon, Nonsense , Delayed Diagnosis , Female , Homozygote , Humans , Male , Muscular Atrophy/genetics , Pedigree , Phenotype , Siblings
17.
Int J Hyperthermia ; 38(1): 273-281, 2021.
Article En | MEDLINE | ID: mdl-33612043

OBJECTIVE: To study the efficacy of LITT for BM patients experiencing in-field recurrence following SRS. METHODS: A literature search was conducted to identify studies investigating local control (LC) rate and overall survival (OS) of LITT for BMs with IFR following SRS. RESULTS: Analysis included 14 studies (470 patients with 542 lesions). The 6-month (LC-6) and 12-month (LC-12) local control rates were 78.5% (95% CI: 70.6-84.8%) and 69.0% (95% CI: 60.0-76.7%) separately. Pooled median OS was 17.15 months (95% CI: 13.27-24.8). The overall OS-6 and OS-12 rates were 76.0% (95% CI: 71.4-80.0%) and 63.4% (95% CI: 52.9-72.7%) separately. LITT provided more favorable local control efficacy in RN than BM recurrence (LC-6: 87.4% vs. 67.9%, p = 0.009; LC-12: 76.3% vs. 59.9%, p = 0.041). CONCLUSIONS: LITT is an effective treatment for BM patients experiencing IFR following SRS. For different pathological entities, LITT showed more satisfactory local control efficacy on RN than BM recurrence.


Brain Neoplasms , Laser Therapy , Radiation Injuries , Radiosurgery , Brain Neoplasms/surgery , Humans , Lasers , Neoplasm Recurrence, Local , Radiation Injuries/surgery , Retrospective Studies , Treatment Outcome
18.
Hepatol Int ; 15(1): 155-165, 2021 Feb.
Article En | MEDLINE | ID: mdl-33385299

BACKGROUND AND AIMS: Rifaximin has been recommended as a prophylactic drug for hepatic encephalopathy (HE) and spontaneous bacterial peritonitis (SBP). This study aims to explore whether low-dose rifaximin can prevent overall complications and prolong survival in cirrhotic patients. METHODS: In this multi-centre randomized open-labelled prospective study, 200 patients with decompensated cirrhosis were randomly assigned at a ratio of 1:1. Patients in rifaximin group were administered 400 mg rifaximin twice daily for 6 months, and all other therapeutic strategies were kept unchanged in both groups as long as possible. The primary efficacy endpoints were the incidence of overall complications and liver transplantation-free survival. The secondary endspoints were the incidence of each major cirrhosis-related complication, as well as the Child-Pugh score and class. RESULTS: The major baseline characteristics were similar in the two groups except for HE. The cumulative incidence and frequency of overall complications were significantly lower in rifaximin group than in the control group (p < 0.001). Though liver transplantation-free survival was not significantly different between the two groups, subgroup analysis showed rifaximin markedly prolonged liver transplantation-free survival in patients with Child-Pugh score ≥ 9 (p = 0.007). Moreover, rifaximin markedly reduced the episodes of ascites exacerbation (p < 0.001), HE (p < 0.001) and gastric variceal bleeding (EGVB, p = 0.031). The incidence of adverse events was similar in the two groups. CONCLUSION: Low-dose rifaximin significantly decreases the occurrence of overall complications, leading to prolonged survival in patients with advanced stages of cirrhosis in this trail. Further study should be carried out to compare the effect of this low-dose rifaximin with normal dose (1200 mg/day) rifaximin in preventing cirrhosis-related complications. CLINICAL TRIAL NUMBER: NCT02190357.


Esophageal and Gastric Varices , Liver Cirrhosis , Rifaximin/therapeutic use , Gastrointestinal Hemorrhage , Hepatic Encephalopathy/etiology , Hepatic Encephalopathy/prevention & control , Humans , Liver Cirrhosis/complications , Pharmaceutical Preparations , Prospective Studies
20.
Hepatobiliary Surg Nutr ; 10(6): 811-824, 2021 Dec.
Article En | MEDLINE | ID: mdl-35004947

BACKGROUND: With lifestyle modification and over-nutrition, the prevalence of nonalcoholic fatty liver disease (NAFLD) has been increasing annually. Here we aimed to assess the updated prevalence of NAFLD, and to evaluate the association of NAFLD with metabolic abnormalities according to gender, body mass index and age. METHODS: A population-based cross-sectional study was conducted in Shanghai from December 2016 to July 2017. With a three-stage stratified sampling strategy, 3,717 eligible participants were enrolled for the analysis. RESULTS: In total, 1,217 subjects (32.7%) had NAFLD. Among them, 400 (16.3%) of the nonobese and 817 (65.0%) of the obese subjects had NAFLD. The prevalence of NAFLD was increased according to the quartiles of age and waist circumference (WC) in the nonobese subjects. Females with nonobese NAFLD had 1.6-, 2.6-, 2.0-, 2.3- and 3.3-fold higher risks for metabolic syndrome, diabetes mellitus, hyperglycemia, hypertriglycerdemia (high TG) and low high-density lipoprotein cholesterol than obese subjects without NAFLD, respectively. Males had comparable metabolic profiles in both groups, except for a 2.0-fold higher risk of high TG in nonobese NAFLD subjects compared with obese subjects without NAFLD. More impressively, the homeostasis metabolic assessment insulin resistance index was comparable between the two groups. CONCLUSIONS: The increase of age and WC had significant impact on the risk of NAFLD in nonobese subjects. The presence of NAFLD in nonobese subjects increased the risk of metabolic diseases than obese subjects without NAFLD, especially in female.

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