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1.
Food Chem ; 338: 128074, 2021 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-32950011

RESUMO

A separation and analysis method of fosthiazate stereoisomers was established utilizing supercritical fluid chromatography-tandem mass spectrometry (SFC-MS/MS) with a CHIRALPAK AD-3 column. The determination of the four fosthiazate stereoisomers could be completed within 6 min. The environmental behaviors of fosthiazate stereoisomers were studied in legume vegetables. After applying fosthiazate granules to soil, the concentrations of fosthiazate stereoisomers in the legume vegetables increased with time, reached maximum values in 7-10 days, and then decreased gradually in all legumes except for in Glycine max. No obvious dissipation behaviors were observed in Glycine max. Interestingly, the stereoselective behaviors were species-specific. A-(-), B-(-) and B-(±)-fosthiazate were preferentially enriched in Phaseolus vulgaris Linn and Vigna unguiculata, while A-(+) and A-(±)-fosthiazate preferentially accumulated in Vicia faba Linn, Pisum sativum Linn and G. max. The opposite stereoselectivity of B-(±)-fosthiazate was observed in different growth stage of G. max. No stereoselective dissipation occurred in soil.

2.
Artigo em Inglês | MEDLINE | ID: mdl-32763343

RESUMO

Abnormal perceptual processing in schizophrenia may contribute to the development of positive symptoms such as hallucinations. Experimental findings suggest that such abnormalities result from impaired processing of local signals into complex cortical representations. Because complex processing is needed to generate the perception of illusory motion from local signals, deteriorated perception of illusory motion would be expected in schizophrenia. However, findings are mixed, and the relationship between complex motion processing and symptoms is unclear. Illusions with multiple flow components (e.g. rotation/expansion) are known to strongly engage specialized complex processing mechanisms that may be abnormal in schizophrenia, but have not yet been investigated. We used a recently constructed paradigm based on the Pinna-Brelstaff illusion to manipulate complex-flow illusory perception in a quantitative manner and probe associations with dimensional symptoms. In 102 patients and 90 controls, perceived speed and perceptual variability for the PBF were measured across a range of parameters. Meanwhile, eye movement was recorded and gaze parameters were analysed to examine effects on illusory perception. Our results showed that patients experienced faster illusory rotation than controls, while they made fewer eye fixations. This heightened illusory perception was significantly correlated with positive and general, but not negative, symptom scores. Our results indicate that unusual processing of complex-flow motion in patients may be specifically related to dimensional symptoms, which could provide a promising strategy for parsing heterogeneity in the schizophrenia syndrome. This further highlights the role of motion perception abnormalities in the pathophysiology of schizophrenia, thus encouraging future investigation into visual remediation therapeutics.

3.
World J Clin Cases ; 8(19): 4512-4520, 2020 Oct 06.
Artigo em Inglês | MEDLINE | ID: mdl-33083412

RESUMO

BACKGROUND: Duodenal obstruction is a common clinical scenario that can either be mechanical or a pseudo-obstruction. Clinical management of intestinal obstruction starts from localization and proceeds to histological examination of the stenotic intestine. Systemic factors and dysfunction of distant organs might contribute to the development of intestinal obstruction. Here, we report a unique case of idiopathic mechanical duodenal obstruction, which resolved spontaneously after 3 mo of conservative treatment, but was followed by intestinal pseudo-obstruction. CASE SUMMARY: An 84-year-old woman presented with worsened postprandial vomiting accompanied by prolonged pneumonia. Thorough noninvasive investigations revealed complete circumferential stenosis in the descending duodenum without known cause. Exploratory surgery was postponed due to septic shock and possible pulmonary fungal infection. Conservative treatment for 3 mo for ileus and control of pulmonary infection resolved the intestinal obstruction completely. Unfortunately, 2 wk later, she had regurgitation and postprandial vomiting again, complicated by deteriorating wheezing and dyspnea. Computed tomography revealed a dilated stomach and proximal duodenum without new intestinal stricture or pulmonary infiltration. The patient fully recovered after combined treatment with antireflux agents, enema, prokinetics, and bronchodilators. CONCLUSION: This complicated case highlights the inter-relationship of local and systemic contributions to ileus and gut dysfunction, which requires multidisciplinary treatment.

4.
Immunogenetics ; 72(8): 423-430, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33009922

RESUMO

We have previously demonstrated that Mettl3-silencing dendritic cells (DCs) exhibited immature properties and prolonged allograft survival in a murine heart transplantation model. Exosomes derived from donor DCs (Dex) are involved in the immune rejection of organ transplantation, and blocking Dex transfer may suppress immune rejection. Herein, this study aimed to investigate whether Mettl3 knockdown inhibits the secretion and activity of donor Dex, thereby inhibiting donor Dex-mediated immune rejection. The imDex, mDex, shCtrl-mDex, and shMettl3-mDex were obtained from the culture supernatant of DCs (immature DCs, mature DCs, shCtrl-infected mature DCs, shMettl3-infected mature DCs) derived from donor BALB/c mouse bone marrow and then co-cultured with splenic T cell lymphocyte suspension from recipient C57BL/6 mice in vitro or injected into recipient C57BL/6 mice before the cardiac transplantation. Donor shMettl3-mDex expressed lower concentration of exosomes and lower expression of Mettl3, Dex markers (ICAM-1, MHC-I, MHC-II), as well as lower ability to activate T cell immune response than shCtrl-mDex. Administration of donor shMettl3-mDex attenuated immune rejection after mouse heart transplantation and prolonged the allograft survival. In summary, Mettl3 knockdown inhibits the immune rejection of Dex in a mouse cardiac allograft model.

5.
Sci China Earth Sci ; : 1-28, 2020 Sep 22.
Artigo em Inglês | MEDLINE | ID: mdl-33014023

RESUMO

In the Sichuan Basin, seismic activity has been low historically, but in the past few decades, a series of moderate to strong earthquakes have occurred. Especially since 2015, earthquake activity has seen an unprecedented continuous growth trend, and the magnitude of events is increasing. Following the M5.7 Xingwen earthquake on 18 Dec. 2018, which was suggested to be induced by shale gas hydraulic fracturing, a swarm of earthquakes with a maximum magnitude up to M6.0 struck Changning and the surrounding counties. Questions arose about the possible involvement of industrial actions in these destructive events. In fact, underground fluid injection in salt mine fields has been occurring in the Sichuan Basin for more than 70 years. Disposal of wastewater in natural gas fields has also continued for about 40 years. Since 2008, injection for shale gas development in the southern Sichuan Basin has increased rapidly. The possible link between the increasing seismicity and increasing injection activity is an important issue. Although surrounded by seismically active zones to the southwest and northwest, the Sichuan Basin is a rather stable region with a wide range of geological settings. First, we present a brief review of earthquakes of magnitude 5 or higher since 1600 to obtain the long-term event rate and explore the possible link between the rapidly increasing trend of seismic activity and industrial injection activities in recent decades. Second, based on a review of previous research results, combined with the latest data, we describe a comprehensive analysis of the characteristics and occurrence conditions of natural and injection-induced major seismic clusters in the Sichuan Basin since 1700. Finally, we list some conclusions and insights, which provide a better understanding of why damaging events occur so that they can either be avoided or mitigated, point out scientific questions that need urgent research, and propose a general framework based on geomechanics for assessment and management of earthquake-related risks. Electronic Supplementary Material: Supplementary material is available for this article at 10.1007/s11430-020-9646-x and is accessible for authorized users.

6.
J Orthop Res ; 2020 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-33049072

RESUMO

Anti-RANKL agents function by blocking the differentiation of osteoclasts, thereby proving useful in the clinical management of postmenopausal osteoporosis. The effects of such agents on osseointegration is less well understood. The purpose of the current study wasto investigatewhether osteoprotegerin (OPG), an osteoclast inhibitor, enhances the known anabolic effects of mechanical loading (VEH)and intermittent PTH (iPTH) usinga well-established rabbit model of osseointegration.In the first set of experiments, OPG was administered either alone or combined with iPTH to study its effects on measured bone mass. Asecond set of experiments was conducted using a higher dosage of OPG (10 mg/kg) to explore its early impact at the cellular and molecular levels. All subjects had mechanical load applied to the implant on one extremity and no load applied on the contralateral side. In the first set of experiments, OPG alone decreased peri-implant bone mass compared to themechanical loadinggroup, whereas OPG + iPTH increased peri-implant bone mass compared to the OPG group. In the second set of experiments, high-dose OPG significantly decreased osteoclast number (-74.3%) at 1 week. However, this effect was not sustained as osteoclast number returned to baseline by 2 weeks.These results suggest that systemic administration of OPG doesnot enhance osseointegration, but rather has a detrimental effect. This article is protected by copyright. All rights reserved.

7.
J Hazard Mater ; 404(Pt B): 124198, 2020 Oct 07.
Artigo em Inglês | MEDLINE | ID: mdl-33068987

RESUMO

Sulfonamides, such as sulfadiazine (SDZ), are frequently detected in water and wastewater with their toxic and persistent nature arousing much concern. In this work, a novel electrochemical membrane biofilm reactor (EMBfR) was constructed for the removal of SDZ whilst suppressing the development of antibiotic resistance genes (ARGs). Results showed that the EMBfR achieved 94.9% removal of SDZ, significantly higher than that of a control membrane biofilm reactor (MBfR) without electric field applied (44.3%) or an electrolytic reactor without biofilm (77.3%). Moreover, the relative abundance of ARGs in the EMBfR was only 32.0% of that in MBfR, suggesting that the production of ARGs was significantly suppressed in the EMBfR. The underlying mechanisms relate to (i) the change of the microbial community structure in the presence of the electric field, leading to the enrichment of potential aromatic-degrading microorganisms (e.g., Rhodococcus accounting for 51.0% of the total in the EMBfR compared to 10.0% in the MBfR) and (ii) the unique degradation pathway of SDZ in the EMBfR attributed to the synergistic effect between the electrochemical and biological processes. Our study highlights the benefits of EMBfR in removing pharmaceuticals from contaminated waters and suppressing the development (and transfer) of ARGs in the environment.

8.
Environ Sci Technol ; 2020 Oct 26.
Artigo em Inglês | MEDLINE | ID: mdl-33103901

RESUMO

Heavy metals in industrial wastewaters are typically present as stable metal-organic complexes with their cost-effective treatment remaining a significant challenge. Herein, a self-enhanced decomplexation scenario is developed using an electrochemical membrane filtration (EMF) system for efficient decomplexation and Cu recovery. Using Cu-EDTA as a model pollutant, the EMF system achieved 81.5% decomplexation of the Cu-EDTA complex and 72.4% recovery of Cu at a cell voltage of 3 V. The •OH produced at the anode first attacked Cu-EDTA to produce intermediate Cu-organic complexes that reacted catalytically with the H2O2 generated from the reduction of dissolved oxygen at the cathode to initiate chainlike self-enhanced decomplexation in the EMF system. The decomplexed Cu products were further reduced or precipitated at the cathodic membrane surface thereby achieving efficient Cu recovery. By scavenging H2O2 (excluding self-enhanced decomplexation), the rate of decomplexation decreased from 8.8 × 10-1 to 4.1 × 10-1 h-1, confirming the important role of self-enhanced decomplexation in this system. The energy efficiency of this system is 93.5 g kWh-1 for Cu-EDTA decomplexation and 15.0 g kWh-1 for Cu recovery, which is much higher than that reported in the previous literature (i.e., 7.5 g kWh-1 for decomplexation and 1.2 g kWh-1 for recovery). Our results highlight the potential of using EMF for the cost-effective treatment of industrial wastewaters containing heavy metals.

9.
J Clin Neurosci ; 80: 16-22, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33099340

RESUMO

OBJECTIVE: Clinically differentiating multiple system atrophy cerebellar type (MSA-C) and spinocerebellar ataxias (SCAs) is challenging, especially at early disease stages, because of their similarities in clinical manifestation and imaging results. The purpose of this study was to explore the value of external anal-sphincter electromyography (EAS-EMG) and urethral-sphincter electromyography (US-EMG) for distinguishing between MSA-C and SCAs. METHODS: A total of 51 subjects, including 33 MSA-C and 18 SCAs, were recruited. Average duration and amplitude of motor unit potentials (MUPs), percentage of polyphasic MUPs, amplitude during strong contraction and recruitment pattern during maximal voluntary contraction were recorded and analyzed to identify differential diagnostic results of EAS-EMG and US-EMG for MSA-C and SCAs. RESULTS: Significant differences in average MUP duration, percentage of polyphasic MUPs, and ratio of simple phase and simple-mix phase using EAS-EMG were noted between patients with MSA-C and SCAs. These same parameters also differed significantly between MSA-C and SCAs male patients using US-EMG. CONCLUSIONS: EAS-EMG may serve as a potential method for early differential diagnosis between patients with MSA-C and SCAs. Furthermore, US-EMG could be a supplementary method for males when EAS-EMG is not available.

10.
Clin Neurol Neurosurg ; 199: 106297, 2020 Oct 08.
Artigo em Inglês | MEDLINE | ID: mdl-33049603

RESUMO

OBJECTIVE: Mass lesion presentation of primary angiitis of the central nervous system (ML-PACNS) is a special subtype of primary central nervous system vasculitis, which is difficult to be differentiated from other space-occupying disorders. We aimed to summarize our experience and improve diagnostic techniques of ML-PACNS. PATIENTS AND METHODS: Case records for 16 patients treated in the Department of Neurology of Six Medical Center of Chinese PLA General Hospital from December 2008 to November 2019 were examined. All patients were diagnosed with ML-PACNS by pathology. Clinical manifestations, neuroimaging results and pathological features were retrospectively analyzed. RESULTS: The 16 patients with ML-PACNS in the cohort (8 males) had a median age of 32 (range 19-56 years). On T1WI and T2WI, 12 cases showed mixed signals and 4 cases showed T1WI hypointense and T2WI hyperintense. Fifteen patients showed DWI hyperintense, of which 9 cases showed hypointense in the middle of the lesion. Gadolinium enhancement of all cases was irregular. All patients had a brain biopsy (stereotactic procedure in 10 and open-wedge surgery in 6) which showed lymphocytic vasculitis in the majority of patients (15/16) and necrotizing vasculitis in one patient. CONCLUSIONS: ML-PACNS is an important differential candidate for tumefactive demyelinating lesions, CNS infections and brain tumors. Mixed T1WI and T2WI signals as well as central hypointense surrounded by hyperintense lesions on DWI may be useful imaging features for the diagnosis of ML-PACNS which has implications for those who have not yet had a biopsy. ML-PACNS may have different pathological type from PACNS.

11.
Int J Biol Macromol ; 2020 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-32891644

RESUMO

As one type of the solid wastes, the increasing contamination of waste cellulose diacetate (CDA) from discarded cigarette filters is a growing problem worldwide. Finding a facile and suitable approach to convert the CDA into value-added materials is of significance. Herein, we reported a green, simple and effective method to reuse CDA as precursor for preparing fluorescence N-doped carbon dots (N-CDs) via one-pot hydrothermal carbonization in aqueous solution with low-cost ammonium hydroxide as the passivation agent. The N-CDs showed a quantum yield up to 22.4% with a maximum emission at 415 nm and excitation at 320 nm. Interestingly, the N-CDs exhibited high selectivity toward tetracycline (TC) as their fluorescence was obviously quenched by TC as a result of inner-filter effect. A linear relationship was fabricated over concentration range of 0-80 µM with a detection limit of 0.06 µM. Moreover, the N-CDs could also be applied as fluorescent ink for anti-forgery.

12.
J Biomater Sci Polym Ed ; : 1-15, 2020 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-32867627

RESUMO

Islet transplantation is considered as one of the promising treatment options for curing diabetes. However, the extracellular matrix (ECM) is destroyed during the process of islet isolation and extraction, which leads to decreased islet activity in vitro. ECM-based biomaterials which used to reconstruct the microenvironment of cells have been applied in various fields. In this study, an electrospinning hybrid scaffolds with silk fibroin (SF) and pig pancreatic decellularized extracellular matrix (P-dECM) have been prepared to mimic the islet ECM in vivo. Furthermore, the activity and function of islet were evaluated in vitro. The microstructures, hydrophilia and the main components of scaffolds were characterized by SEM, contact angle analysis and immunohistochemical experiment. The toxicity of stents was assessed by MTT assay. Cell activity and function were estimated by the live-dead cell staining, immunofluorescence, glucose-stimulated insulin secretion assay and q-PCR. A nanofiber scaffold with good hydrophilicity, non-toxic and retention of key ECM components has been obtained, which can improve the survival and promote and function of islets. This scaffold can be a promising candidate for pancreatic tissue engineering and provides a new strategy for islet transplantation.

13.
J Proteomics ; 230: 103965, 2020 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-32891891

RESUMO

The small proteins and short open reading frames encoded peptides (SEPs) are of fundamental importance because of their essential roles in biological processes. However, the annotation or identification of them is challenging, in part owing to the limitation of the traditional genome annotation pipeline and their inherent characteristics of low abundance and low molecular weight. To discover and characterize SEPs in Hep3B cell line, we developed an optimized peptidomic assay by combining different peptide extraction and separation methods. The organic solvent precipitation method in peptidomic showed promotion in the enrichment of low molecular proteins or peptides, and the data clearly showed a beneficial effect from the reduction of sample complexity, resulting in high-quality MS/MS spectra. Furthermore, different strategies exhibited good complementarity in improving the total amount of small proteins and their sequence coverage. In total, 1192 proteins within less than 100 amino acids were identified, including 271 newly discovered SEPs that been annotated in the OpenProt database and 147 SEPs of them encoded from ncRNA or lincRNA. Results in this work provide robust evidence to date that the human proteome is more complicated than previously appreciated, and this will be a benefit to discoveries of proteins without function annotation. SIGNIFICANCE: In this work, methods were optimized to identify SEPs in Hep3B. The organic solvent precipitation presents promotion in enrichment of low molecular proteins or peptides, and the data clearly showed a beneficial effect from the reduction of sample complexity, resulting in high quality MS/MS spectra. Different strategies exhibited good complementarity in improving total amount of small proteins and their sequence coverage. In total, 1192 proteins within less than 100 amino acids were identified, including 271 newly discovered SEPs that been annotated in the OpenProt database and 147 SEPs of them encoded from ncRNA or lincRNA. Furthermore, 22 SEPs generated from the uORF may has potential effect in translation control, and 149 newly identified SEPs have known functional domains or cross-species conservation. Results in this work present robust evidence for the coding potential of the ignored region of human genomes and may provide additional insights into tumor biology.

14.
Mol Med Rep ; 22(5): 3962-3968, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32901836

RESUMO

Previous studies have demonstrated that calycosin is a natural phytoestrogen with a similar structure to estrogen, which can inhibit cell proliferation and induce apoptosis in a variety of tumors. Calycosin exerts potential pharmacological effects on osteosarcoma cells by inducing apoptosis. The aim of the present study was to elucidate the specific molecular mechanism of calycosin­induced apoptosis in osteosarcoma cells. Cell proliferation was determined by an MTT assay. Annexin V/PI and JC­1 staining were used to detect apoptosis and mitochondrial dysfunction, respectively, by flow cytometry. Western blot analysis was used to detect the expression of caspases or mitochondrial proteins. The results revealed that calycosin reduced the cell viability of human osteosarcoma 143B cells, induced apoptosis and increased the loss of mitochondrial membrane potential (MMP). In addition, calycosin increased the expression of the proapoptotic antiapoptotic proteins cleaved caspase­3, cleaved caspase­9, cleaved poly(ADP­ribose) polymerase and Bcl­2­associated X protein (Bax), and decreased the expression of the antiapoptotic proapoptotic protein B­cell lymphoma­2 (Bcl­2), thus altering the Bax/Bcl­2 ratio. In addition, the expression levels of cytochrome c were markedly decreased in the mitochondria and increased in the cytoplasm following calycosin treatment. Furthermore, calycosin treatment induced p38­mitogen­activated protein kinase (MAPK) phosphorylation, whereas the p38­MAPK inhibitor BIRB 796 markedly reversed cell viability, apoptosis and loss of MMP in 143B cells. These results suggested that calycosin inhibited osteosarcoma 143B cell growth via p38­MAPK regulation of mitochondrial­dependent intrinsic apoptotic pathways.

15.
Sci Rep ; 10(1): 14694, 2020 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-32895443

RESUMO

The purpose of the study is to evaluate the positive predictive value of the combined pituitary dynamic enhanced MRI (dMRI) and high-dose dexamethasone suppression tests (HDDST) in the diagnosis of Cushing's disease (CD) bypassing bilateral inferior petrosal sinus sampling (BIPSS). A total of 118 patients with Cushing's syndrome (CS), who underwent pituitary dMRI, HDDST and BIPSS were included. Positive predictive value of pituitary dMRI, HDDST, BIPSS and the combined test were calculated and tumor lateralization accuracy was further analyzed. The positive predictive value of the combined pituitary dMRI and HDDST was 98.6%, higher than that of BIPSS. There were 96.8% of patients, who had either negative findings in pituitary dMRI or HDDST, showing centralizing BIPSS results. For tumor lateralization, the accuracy by pituitary dMRI was 88.6%, whereas BIPSS was 57.5%. Therefore, CS patients with both positive findings in pituitary dMRI and HDDST need no further invasive evaluation to establish the definite diagnosis of CD. BIPSS will improve the diagnostic accuracy when negative findings were found in either pituitary dMRI or HDDST.

16.
Vaccine ; 38(43): 6751-6756, 2020 Oct 07.
Artigo em Inglês | MEDLINE | ID: mdl-32891473

RESUMO

A series of scandals involving the rabies vaccine and the diphtheria, tetanus, and pertussis combined vaccine (DTP) were reported in July 2018, in China. Our goal was to assess the effects of the vaccine scandal on parents' attitudes and decisions regarding vaccination. A cross-sectional study was conducted by contacting kindergarteners' parents through an online questionnaire from March 1 to 8, 2019. In total, 14,300 valid questionnaire responses were received, and 92.53% of respondents were aware of the recent vaccine scandal. Among parents who were aware of the vaccine scandal, 13.62% preferred that their children receive optional vaccines (optional vaccine group) or delay, stop or reject vaccinations (hesitate group) instead of receiving mandatory vaccines (mandatory vaccine group). Awareness of the vaccine scandal and self-reporting of vaccine-associated side effects in their children were more common among respondents in the optional vaccine and the hesitate groups (P < 0.001). Compared with the mandatory vaccine group, parents in the hesitate group were more likely to report having attempted to dissuade others from vaccinating their children (P < 0.001). Because the scandal changed parents' decisions regarding vaccination of their children, efforts should be made to restore public confidence in vaccines and to boost immunization rates.

17.
J Hazard Mater ; 400: 123246, 2020 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-32947689

RESUMO

The ability to convert excess ammonia in water into harmless N2 is highly desirable for environmental remediation. We present a chlorine-oxygen radical (ClO)-mediated photoelectrochemical filtration system for highly efficient and complete ammonia removal from water. The customized photochemical device comprised a Ag-functionalized TiO2nanotube array mesh photoanode and a Pd-Cu co-modified nickel foam (Pd-Cu/NF) cathode. Under illumination, holes generated at the anode catalyzed the conversion of H2O and Cl- to HOand Cl, respectively. In turn, these radicals then reacted further, yielding ClO, which selectively decomposed ammonia. The cathode enabled further reduction of anodic byproducts such as NO3- to N2. The complete oxidation of all dissolved ammonia was achieved within 15 min reaction under neutral conditions, where N2 was the dominant product. The impact of key parameters was assessed, which enabled the discovery of optimal reaction conditions and the proposal of the underlying working mechanism. The flow-through configuration demonstrated a 5-fold increase of ammonia oxidation rate compared to the conventional batch reactor. The role of ClO in the oxidation of ammonia was verified with electron paramagnetic resonance and scavenger studies. This study provided greater mechanistic insights into photoelectrochemical filtration technology and demonstrated the potential of future nanotechnology for removing ammonia.

18.
Pediatr Cardiol ; 2020 Sep 16.
Artigo em Inglês | MEDLINE | ID: mdl-32939586

RESUMO

Idiopathic ventricular tachycardia (IVT) is the major cause of sudden cardiac death. Patients with IVT were usually manifested without structural heart disease. In this present study, we performed family-based whole genome sequencing (WGS) and Sanger sequencing for a 5-year-old Chinese boy with IVT and all the unaffected family members in order to identify the candidate gene and disease-causing mutation underlying the disease phenotype. Results showed that a novel heterozygous single-nucleotide duplication (c.128dup) and a novel heterozygous missense (c.3328A > G) variant in ABCA5 gene were identified in the proband. The single-nucleotide duplication (c.128dupT), inherited from his father and patrilineal grandfather, leads to a frameshift which results into the formation of a truncated ABCA5 protein of 50 (p.Leu43Phefs*8) amino acids. Hence, it is a loss-of-function mutation. The missense (c.3328A > G) variant, inherited from his mother, leads to the replacement of isoleucine by valine at the position of 1110 (p.Ile1110Val) of the ABCA5 protein. Multiple sequence alignment showed that p.Ile1110 is evolutionarily conserved among several species indicating both the structural and functional significance of the p.Ile1110 residue in the wild-type ABCA5 protein. Quantitative RT-PCR showed that the ABCA5 mRNA expression levels were decreased in the proband. These two novel variants of ABCA5 gene were co-segregated well among all the members of this family. Our present study also strongly supports the importance of using family-based whole genome sequencing for identifying novel candidate genes associated with IVT.

19.
World Neurosurg ; 2020 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-32750521

RESUMO

OBJECTIVE: O-arm computer navigation-assisted technology (OACNAT) has been widely used in the treatment of thoracic ossification of ligamentum flavum (TOLF) in recent years, but there are few in-depth studies on the safety and effectiveness of this approach. The purpose of this study was to investigate the clinical effect of accurate surgical treatment for TOLF with OACNAT. METHODS: From January 2010 to January 2018, the clinical data of 64 patients with TOLF who underwent laminectomy and internal fixation in the Third Hospital of Hebei Medical University were retrospectively reviewed. The patients were divided into group A (with OACNAT, n = 33) and group B (without OACNAT, n = 31) according to the application of OACNAT during the operation. The possible operation-related variables, imaging results, and clinical effects were compared between the 2 groups. RESULTS: In terms of demographics, there were no significant differences between group A and group B in age, sex, body mass index, smoking, drinking, heart disease, hypertension and diabetes (P > 0.05). In terms of operation-related variables, imaging results, and clinical efficacy, there were significant differences in operation time, wound length, postoperative modified Japanese Orthopaedic Association (JOA) score, JOA score improvement rate, accuracy of screw placement, number of intraoperative fluoroscopy procedures, and cerebrospinal fluid leakage between group A and group B (P < 0.05). There were no significant differences in other variables between the 2 groups (P > 0.05). In contrast to group A, in group B, 2 patients had incorrect segmental localization, 3 patients had residual ossified ligamentum flavum after the operation, and 1 patient had postoperative neurologic impairment. On further analysis, compared with group B, group A had a shorter operation time, more accurate screw placement, fewer fluoroscopy procedures, higher JOA score improvement rate, and lower incidence of complications. CONCLUSIONS: The use of OACNAT accurately located the position, size, shape, and boundary of ossification of the ligamentum flavum during the operation, which could guide accurate decompression and improve the accuracy of pedicle screw placement. This approach not only reduced the incidence of incorrect segmental localization and incomplete or excessive decompression but also reduced the risk of related complications and improved the accuracy, safety, and effectiveness of the operation.

20.
Artigo em Inglês | MEDLINE | ID: mdl-32776174

RESUMO

PURPOSE: To systematically review the clinical manifestations and treatment outcomes of patients with subaxial cervical spinal tuberculosis (SCS-TB) and evaluate the current evidence for surgical or nonsurgical treatment. METHOD: A systematic review was performed using the PubMed, ScienceDirect, Scopus and Cochrane Central Register of Controlled Trials (CENTRAL) databases. Studies published in English from January 2000 to December 2018 were included in the search. A reference lists search of relevant articles was also conducted for other potential references. The risk of bias was assessed with the 13-item criteria recommended by the Cochrane Back and Neck Group and the Methodological Index for Non-Randomized Studies. RESULTS: Fifteen articles were included with a total of 456 patients, of which only 1 study was randomized and fourteen were nonrandomized. The most common symptom reported was neck pain and stiffness, and the most common segment involved was C5. Of the 456 patients, 329 (72.1%) were treated surgically. Most experienced neurologic recovery after surgery. Instrumentation resulted in maintenance of the correction of alignment throughout the follow-up period. The use of radical debridement is still in debate. CONCLUSIONS: Anti-TB therapy is necessary for all SCS-TB patients, including those underwent surgical management. For patients with neurological dysfunction, the surgical method with decompression and instrumentation could provide better cervical spinal alignment and stability. For adult, the radical debridement remains in debate, while for children, radical debridement may cause the development of progressive kyphosis during growth. Larger randomized comparative studies with longer follow-up times are needed.

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