Mechanisms Underlying Brain Aging Under Normal and Pathological Conditions / 神经科学通报·英文版

Aging is a major risk factor for many human diseases, including cognitive impairment, which affects a large population of the elderly. In the past few decades, our understanding of the molecular and cellular mechanisms underlying the changes associated with aging and age-related diseases has expanded greatly, shedding light on the potential role of these changes in cognitive impairment. In this article, we review recent advances in understanding of the mechanisms underlying brain aging under normal and pathological conditions, compare their similarities and differences, discuss the causative and adaptive mechanisms of brain aging, and finally attempt to find some rules to guide us on how to promote healthy aging and prevent age-related diseases.

Research advances in new technologies in targeted protein degradation / 药学学报

In recent years, the targeted protein degradation technology has developed quickly, with proteolysis-targeting chimera (PROTAC) as the best-known strategy through exploring the ubiquitin-proteasome system. A number of new targeted protein degradation strategies have been emerging to expand the scope of protein degradation technology, including lysosome-targeting chimeras (LYTACs), autophagy-targeting chimeras (AUTACs), autophagosome-tethering compounds (ATTECs) and chimeras based on chaperone-mediated autophagy (CMA). The emerging methodologies have explored another important protein degradation system in eukaryotes-lysosomal systems, such as the endosome-lysosome pathway and the autophagy-lysosome pathway. This review summaries the mechanisms and features of different strategies for targeted protein degradation, with a special emphasis on the new targeted protein degradation technologies, such as their current status, advantages and limitations.

Multi-index components of Scutellariae Barbatae Herba according to UHPLC-QTRAP-MS coupled with chemometrics / 中国中药杂志

The present study developed an ultra-fast liquid chromatography coupled with triple quadrupole-linear ion trap composite mass spectrometry(UHPLC-QTRAP-MS) to simultaneously determine the content of potential active components in Scutellariae Barbatae Herba and also to provide a reference approach for screening out the differential quality control components among different batches of Scutellariae Barbatae Herba. Chromatographic separations were conducted on a Thermo Acclaim~(TM) RSLC 120 C_(18) column(3.0 mm×100 mm, 2.2 μm) in a gradient program. The mobile phase consisted of 0.1% aqueous formic acid and acetonitrile, and the column temperature was maintained at 40 ℃. The flow rate was 0.4 mL·min~(-1) and the injection volume was 2 μL. The targeted compounds were monitored in the multiple reaction monitoring(MRM) mode. The acquired data were processed by hierarchical cluster analysis(HCA) and partial least square discriminant analysis(PLS-DA). Sixteen compounds all showed good linear relationship within the corresponding linear ranges and the R~2 values were all higher than 0.993 2. The RSDs of precision, repeatability, and stability were less than or equal to 3.7%. Mean recovery rates were in the range of 95.67% and 104.8% with RSDs≤3.2%. According to HCA and PLS-DA, all samples were clustered into four categories. Scutellarin, acteoside, scutellarein, and scutebarbatine X(VIP>1) were considered as differential chemical markers in the four categories. In conclusion, the developed method can be used for the simulta-neous determination of the multiple components and quality control of Scutellariae Barbatae Herba.

Identification of chemical constituents in ethyl acetate soluble extract of Sinopodophylli Fructus based on HPLC-MS~n / 中国中药杂志

A high performance liquid chromatography with a diode array detector combined with electrospray ionization ion trap time-of-flight multistage mass spectrometry(HPLC-DAD-ESI-IT-TOF-MS~n, HPLC-MS~n) method was established for qualitative analysis of the chemical components of ethyl acetate extract from Sinopodophylli Fructus. The analysis was performed on a Kromasil 100-5 C_(18)(4.6 mm×250 mm, 5 μm) column, with a mobile phase consisted of 0.1% formic acid(A) and acetonitrile(B) for gradient at a flow rate of 1.0 mL·min~(-1). Electrospray ionization ion trap time-of-flight multistage mass spectrometry was applied for qualitative analysis under positive and negative ion modes. With use of reference substance, characteristic fragmentation and their HR-MS data, 102 components were identified, including 67 flavonoids and 35 lignans. Among them, 45 compounds were reported in Sinopodophylli Fructus for the first time and 19 compounds were identified as new compounds. PharmMapper was used to predict the bioactivity of compounds that were first reported in Sinopodophylli Fructus, and 20 compounds of them were identified to have potential anticancer activity. The results showed that there were many isomers in the ethyl acetate extract of Folium Nelumbinis, and a total of 19 groups of isomers were found. Among them, C_(21)H_(20)O_8 had the highest number of isomers(18 compounds), all of which were α-peltatin or its isomers; C_(21)H_(20)O_7 ranked second, with 10 compounds, all of which were 8-prenylquercetin-3-methyl ether or its isomers. In conclusion, an HPLC-MS~n method was established for qualitative analysis of the ethyl acetate extract(with anti-breast cancer activity) from Sinopodophylli Fructus in this study, which will provide the evidence for clarifying pharmacological active ingredients of the ethyl acetate extract from Sinopodophylli Fructus against breast cancer.

Intraoperativeinternal stenting for preventing biliary anastomotic complications of liver transplantation / 中华器官移植杂志

Objective:To explore the role of internal stenting for preventing biliary anastomotic complications during complex duct-to-duct biliary reconstruction of orthotopic liver transplantation.Methods:From December 1, 2018 to April 30, 2020, intraductal stent was placed in 6 cases of complex biliary tract reconstruction during liver transplantation. Postoperative prognosis, recovery of bilirubin and biliary enzymes, management of intraductal stent and occurrence of postoperative biliary complications were observed.Results:All of them recovered and were discharged smoothly and bilirubin and biliary enzymes normalized before discharge. The average peak values of total bilirubin, alkaline phosphatase, total bile acid and γ-glutamyl transpeptidase were 83.8±56.4 μmol/L, 151.5±76.3 U/L, 301.7±177.0 U/L and 98.4±80.9 μmol/L and the average turning points of total bilirubin, alkaline phosphatase, total bile acid and γ-glutamyl transpeptidase 2.3±1.0, 3.0±1.1, 3.8±1.2 and 1.8±0.8 days; average time of complete recovery of total bilirubin, alkaline phosphatase, total bile acid and γ-glutamyl transpeptidase 7.7±5.1, 5.0±4.9, 23.5±7.6 and 3.8±2.4 days respectively. Intraductal stent was removed by gastroduodenoscopy ( n=3) and slipped off ( n=3). Except for one case of asymptomatic anastomotic stricture at 1 year post-operation, no biliary complications occurred during follow-ups. Conclusions:The placement of intraductal stent during complex biliary reconstruction of liver transplantation can effectively promote the recovery of postoperative liver function, enhance the quality-of-life of patients, effectively avoid the occurrence of biliary anastomotic complications and ensure the safety of patients.

Development of tilted implant for free end of maxillary posterior teeth / 华西口腔医学杂志

Vertical bone insufficiency in the maxillary posterior teeth is a common clinical situation. At present, the bone insufficiency in the maxillary posterior teeth is mainly overcome by bone grafting through maxillary sinus floor elevation. Compared with traditional axial implantation, tilted implantation can better avoid bone grafting, reduce complications, shorten the treatment cycle, reduce the treatment cost for patients, and gradually be promoted in clinical settings. This article reviews the concept, biomechanics, clinical evaluation, and digital trend of tilted implants of maxillary posterior teeth.

The effect of botulinum neurotoxin type A on Nav1.3 sodium channels and sodium currents in animals modeling neuropathic pain / 中华物理医学与康复杂志

Objective:To investigate the effect of botulinum neurotoxin type A (BoNT/A) on Nav1.3 sodium channels and the function of sodium current in neuropathic pain.Methods:Eighteen adult rats had a spared nerve injury (SNI) induced and then were randomly divided into a saline group and a BoNT/A group, each of 9. Another 9 rats formed a fake operation group, Five days after the SNI, BoNT/A (7U/kg or 15U/kg) or saline was subcutaneously administered into the plantar surface of a hindpaw. On the 3rd, 7th and 14th day after the injection, the SNI rats′ paw withdrawal threshold was measured. On the 7th and 14th day the expression of Nav1.3 protein in dorsal root ganglion (DRG) neurons was examined using western blotting, while any change in the functional tetrodotoxin-sensitive (TTX-S) current was recorded using the patch clamp technique.Results:Administration of BoNT/A at either 7U/kg or 15U/kg significantly increased the SNI-induced mechanical allodynia. The expression of Nav1.3 protein in DRG neurons increased significantly after the SNI, but had decreased significantly by the 7th and 14th day after the administration of BoNT/A. BoNT/A significantly decreased the current density in TTX-S sodium channels in DRG neurons following SNI.Conclusion:Administration of BoTN/A affects the expression of Nav1.3 protein and functional TTX-S current, relieving neuropathic pain.

Risk assessments of organ donation and procurement during COVID-19 pandemic / 中华器官移植杂志

Objective:To explore the clinical evaluation outcomes of COVID-19 risk assessment scale on organ donation and procurement during the pandemic of novel coronavirus pneumonia (NCP) and reduce the incidence of donor-derived infection and medical staff infection.Methods:From January 20 to February 29 in 2020, the organ procurement team adopted the COVID-19 risk assessment scale for evaluating 8 potential donors. They were classified into the levels of high/low/uncertain risk by analyzing the risk levels of donation hospitals, clinical characteristics and exposure history. The coordinators, organ evaluators and ward medical staff adopted essential protective measures. The infection status of 2019-nCoV in the above mentioned staff was examined and graft function in the corresponding recipients were observed.Results:Based upon the COVID-19 risk assessment results, the risk level was high (n=8), low (n=5) and uncertain (n=2) and underwent organ procurement. A total of 19 grafts including liver, kidney, pancreas and heart were harvested and successfully utilized for organ transplantation. During the observation period of 14 days, there was no suspected or confirmed infection of 2019-nCoV among coordinators and medical staff. No graft dysfunction or acute rejection was observed during a follow-up period of 4 to 30 days. No recipient was suspected or confirmed to be infected with 2019-nCoV and 6 of them were negative for 2019-nCoV nucleic acid testing after organ transplantation.Conclusions:During the COVID-19 pandemic, it is safe to proceed with donor organ evaluations and procurements according to the result with the COVID-19 risk assessment scale. Low-risk donor organ donation may be carried out, uncertain risk donor organ donation should be performed cautiously and high-risk donations discouraged.

The clinical effect of dexmedetomidine preoperative nasal drip assisted in patients with strabismus correction under local anesthesia / 医学研究生学报

ObjectiveTo evaluate the effects of intranasal dexmedetomidine premedication on Sedation anxiety score, circulation index, drug dosage (atropine, sufentanil), and adverse reactions in patients undergoing strabismus surgery with local anesthesia. MethodsNinety patients undergoing strabismus surgery were enrolled and randomly divided into the dexmedetomidine group (n=45) and control group (n=45). 30min before the local anesthesia, dexmedetomidine was given intranasally with a dose of 2 μg/kg in the dexmedetomidine group, while the control group treated equal volume saline. The MAP and HR values before pre-dose (T0), 10 min (T1), 20 min (T2), and 30 min (T3) were recorded. The Ramsay score was calculated 30 minutes after administration. SAS scores were made 1 day before surgery and 1 day after surgery. Meanwhile, we measured the dosage of atropine, sufentanil, and the incidence of adverse reactions during surgery. ResultsThe HR and MAP of patients in the dexmedetomidine group were significantly lower than those in the control group at T2 and T3 (P<0.05). The SAS score of the dexmedetomidine group was significantly lower than that of the control group 1 day after the operation. There was no significant difference between the dexmedetomidine group and the control group in the dosage of atropine, the incidence of oculocardiac reflex (OCR), and respiratory depression. The dose of sufentanil in the dexmedetomidine group was lower than that of the control group. The incidence of nausea and vomiting in the control group was significantly higher than that of the dexmedetomidine group.Conclusion Dexmedetomidine (2 μg/kg) preoperative nasal drip has a good sedative effect without obvious adverse reactions and could be safely assisted in clinical anesthesia for patients undergoing local anesthesia correction surgery.

On the making and application of animations for medical teaching / 中华医学教育探索杂志

This study explores the application of animation in medical teaching. On the one hand, the status quo of the application of animation in medical teaching was analyzed by conducting questionnaire survey for the effect of animation-enhanced teaching of the biology course; on the other hand, new animations were made by the researchers to analyze its effect on the students' self-study. The results showed that the scores of the students receiving text and teaching animation resources were significantly higher than that of students receiving only textual information in the learning process (P<0.01), and the same goes for the number of the students that complete the >75％ of the learning content. The results showed that the teaching animation can improve the students' self-study performance and raise their interest in self-study.

Bioinformatics Analysis of Up-regulated Differential Genes in Rats post Spinal Cord Injury / 中国康复理论与实践

Objective:To investigate the differential expression and gene functions of up-regulated genes in rats with spinal cord injury. Methods:Female Sprague-Dawley rats' model of spinal cord injury was established with the modified Allen's method. Gene chip technology was used to detect the variation of differentially expressed genes in the spinal cord after spinal cord injury in rats. The differences in genes, functional localization and pathways were analyzed with gene ontology and Kyoto Encyclopedia of Genes and Genomes pathway database. Results:The results of total RNA quality in spinal cord segment were qualified. Gene chip results showed that there were 1874 differentially up-regulated genes and 2348 differentially down-regulated genes. Bioinformatics was used to analyze differentially up-regulated genes in terms of biological processes, cellular components, and molecular functions. The differentially up-regulated genes were involving apoptosis, immune response, inflammation, etc., pathway analysis mainly showed the differentially up-regulated genes involved phosphoinositide 3-kinase protein kinase B signaling pathway and Toll-like receptor signaling pathways. Conclusion:Differentially up-regulated genes may be involved in secondary reactions following spinal cord injury, such as inflammation, immune response and hypoxia, and then further affect motor function and sensory function.

Effect of Chaijie Yiganxian on Hepatic Fibrosis Induced by Thioacetamide in Rats / 中国实验方剂学杂志

Objective: To research the effect of traditional Chinese medicine compound Chaijie Yiganxian (CJYGX) on the hepatic fibrosis in rats and explore the mechanism. Method: Totally 60 SD rats were randomly divided into normal group, model group, positive group (Biejia Jianwan), and low, medium and high-dose CJYGX groups. Except for the normal group, the remaining five groups were involved in establishing the hepatic fibrosis model through the intraperitoneal injection of thioacetamide (TAA). Fourth weeks after modeling, the positive group was given Biejiajian pill (1 g·kg-1·d-1), and high, medium and low-dose CJYGX groups were given CJYGX(7.96, 3.98, 1.99 g·kg-1·d-1), respectively. The model group was given normal saline once a day for 5 weeks. 24 h after the last intragastric administration with chloral hydrate, the rats were anesthetized slightly. Serum and liver tissues were collected. The liver wet weight was weighed electronically, and the liver index was calculated. Liver function indexes[alanine transaminase (ALT), aspartate aminotransferase (AST), alkaline phosphatase (ALP)] and serum markers[laminin (LN), hyaluronidase (HA), Ⅳ collagen (CⅣ), procollagen Ⅲ (PCⅢ)] of hepatic fibrosis were detected by enzyme linked immunosorbent assay (ELISA). The degree of hepatic fibrosis by Masson stain, mRNA expressions of transforming growth factor-β1 (TGF-β1), Smad2, Smad3, Smad4, Smad7 were detected by Real-time fluorescence quantitative polymerase chain reaction (Real-time PCR), and protein expression levels of platelet derived growth factor (PDGF), TGF-β1 and α-smooth muscle actin (α-SMA) were detected by immunohistochemical or Western blot. Result: Compared with the blank group, the model group liver index was significantly increased; the contents of ALP, AST and ALT were significantly increased; the liver fibrosis indexes LN, HA, Ⅳ-C, PCⅢ and HYP were significantly increased; the degree of liver fibrosis was significantly increased in Masson tissue; the mRNA expressions of TGF-β1, Smad2, Smad3, Smad4 were significantly increased; and the Smad7 mRNA expression was significantly decreased. The protein expressions of TGF-β1, PDGF and α-SMA increased significantly (Pβ1, Smad2, Smad3, Smad4 and up-regulate mRNA expression of Smad7.Immunohistochemical and Western blot analysis show that, compared with model group, CJYGX could significantly reduce the protein expressions of TGF-β1, PDGF and α-SMA (PPConclusion: Traditional Chinese medicine compound CJYGX may protect TAA-induced hepatic fibrosis injury by interfering with TGF-β1/Smad signaling pathway.

Quantitative detection of posterior cingulate gyrus injuries and correlation with cognitive function in patients with type 2 diabetes mellitus based on 1H-MRS combined with DTI / 中国医学影像技术

Objective: To detect and evaluate brain metabolism abnormalities and white matter changes of posterior cingulate cortex (PCC) in type 2 diabetes mellitus (T2DM) patients with 1H-MRS combined with DTI, and to explore the correlation between the changes and cognitive impairment. Methods: Single-voxel 1H-MRS and DTI in PCC were performed in 43 patients with T2DM (21 with cognitive impairment [T2DM+CD group], 22 without cognitive impairment [T2DM group] ) and 23 healthy volunteers (HC group). The integral value of related crest area and fractional anisotropy (FA), mean diffusivity (MD) values were calculated, and their correlation with cognitive function indicators were analyzed. Results: The value of myo-inositol/creatine (mI/Cr) in PCC region of T2DM+CD group was higher than that of T2DM and HC groups, and the value of glutamate+glutamine/creatine (Glx/Cr) value was lower than that of T2DM and HC groups (all P<0.05). Glx/Cr was significantly positively correlated with Montreal cognitive assessment score (MoCA; r=0.59, P<0.01). FA values in the whole brain and PCC regions of T2DM+CD group were lower than those of T2DM and HC groups, and the MD values were higher than those of T2DM and HC groups (all P<0.05). FA value was significantly positively correlated with the score of MoCA (r=0.57, P=0.01). Conclusion: The combination of 1H-MRS and DTI with PCC as ROI can be used to quantitatively reflect and mutually confirm the neuropathological basis of cognitive impairment induced by T2DM, which is expected to be a clinical indicator of early warning.

Effects of Dual-task Motor Training with Anti-gravity Treadmill on Motor and Balance after Stroke / 中国康复理论与实践

@#Objective To observe the effects of dual-task motor training on motor and balance function for stroke patients. Methods From January, 2016 to June, 2017, 30 patients with stroke were assigned randomly into control group (n = 15) and treatment group (n = 15). Both groups accepted routine physical therapy, the control group accepted anti-gravity treadmill training, while the treatment group accepted dual-task training with anti-gravity treadmill, for four weeks. They were measured with balance training and evaluation system, and assessed with Fugl-Meyer Assessment-lower extremity (FMA-L), Berg Balance Scale (BBS) and modified Barthel Index (MBI), before and after treatment. Results The range of swaying on X axial (Rx) and Y axial (Ry), as well as rectangle area (RecArea) decreased after treatment in the treatment group (t > 4.719, P < 0.001), while RecArea decreased in the control group (t = 5.069, P < 0.001). Ry and RecArea were less in the treatment group than in the control group (t > 2.288, P < 0.05). The scores of FMA-L, BBS and MBI improved after treatment in both groups (t > 7.316, P < 0.001), and improved more in the treatment group than in the control group (t > 2.322, P < 0.05). Conclusion The dual-task training via anti-gravity treadmill may improve motor and balance function in stroke patients, and promote the activities of daily living.

Buyang Huanwu Decoction ameliorates ischemic stroke by modulating multiple targets with multiple components: In vitro evidences / 中国天然药物

Buyang Huanwu Decoction (BYHWD) is a well-known traditional Chinese medicine prescription which is used to treat ischaemic stroke and stroke-induced disabilities. However, the exact mechanism underlying BYHWD's amelioration of ischaemic stroke and its effective constituents remain unclear. The present study aimed to identify the effective constituents of BYHWD and to further explore its action mechanisms in the amelioration of ischaemic stroke by testing the activities of 15 absorbable chemical constituents of BYHWD with the same methods under the same conditions. The following actions of these 15 compounds were revealed: 1) Ferulic acid, calycosin, formononetin, astrapterocarpan-3-O-β-D-glucoside, paeonol, calycosin-7-O-β-D-glucoside, astraisoflavan-7-O-β-D-glucoside, ligustrazine, and propyl gallate significantly suppressed concanavalin A (Con A)-induced T lymphocyte proliferation; 2) Propyl gallate, calycosin-7-O-β-D-glucoside, paeonol, and ferulic acid markedly inhibited LPS-induced apoptosis in RAW264.7 cells; 3) Propyl gallate and formononetin significantly inhibited LPS-induced NO release; 4) Hydroxysafflor yellow A and inosine protected PC12 cells against the injuries caused by glutamate; and 5) Formononetin, astragaloside IV, astraisoflavan-7-O-β-D-glucoside, inosine, paeoniflorin, ononin, paeonol, propyl gallate, ligustrazine, and ferulic acid significantly suppressed the constriction of the thoracic aorta induced by KCl in rats. In conclusion, the results from the present study suggest that BYHWD exerts its ischaemic stroke ameliorating activities by modulating multiple targets with multiple components.

Rhododendron Molle (Ericaceae): phytochemistry, pharmacology, and toxicology / 中国天然药物

Rhododendron molle G. Don, belonging to the Ericaceae family, is a traditional Chinese medicinal plant with a wide spectrum of pharmacological effects. This paper aimed to review the phytochemistry, pharmacology and toxicology of R. molle, and to discuss the tendency of future investigations on this plant. A systematic review of literature about R. molle was carried out using resources including classic books about Chinese herbal medicine, and scientific data bases including CNKI, Pubmed, SciFinder, Scopus, and Web of Science. Over 67 compounds, including diterpenes, triterpenes, flavonoids, and lignans, had been extracted and identified from R. molle. The extracts/monomers isolated from the root, flower and fruits of this plant were used as effective agents for treating pains, inflammatory diseases, hypertension, and pest, etc. In addition, diterpenes, such as rhodojaponin III, were considered as the toxic agents associated with the toxicities of this plant. These findings will be significant for the discovery of new drugs from this plant and full utilization of R. molle.

Buyang Huanwu Decoction ameliorates ischemic stroke by modulating multiple targets with multiple components: In vitro evidences / 中国天然药物

Buyang Huanwu Decoction (BYHWD) is a well-known traditional Chinese medicine prescription which is used to treat ischaemic stroke and stroke-induced disabilities. However, the exact mechanism underlying BYHWD's amelioration of ischaemic stroke and its effective constituents remain unclear. The present study aimed to identify the effective constituents of BYHWD and to further explore its action mechanisms in the amelioration of ischaemic stroke by testing the activities of 15 absorbable chemical constituents of BYHWD with the same methods under the same conditions. The following actions of these 15 compounds were revealed: 1) Ferulic acid, calycosin, formononetin, astrapterocarpan-3-O-β-D-glucoside, paeonol, calycosin-7-O-β-D-glucoside, astraisoflavan-7-O-β-D-glucoside, ligustrazine, and propyl gallate significantly suppressed concanavalin A (Con A)-induced T lymphocyte proliferation; 2) Propyl gallate, calycosin-7-O-β-D-glucoside, paeonol, and ferulic acid markedly inhibited LPS-induced apoptosis in RAW264.7 cells; 3) Propyl gallate and formononetin significantly inhibited LPS-induced NO release; 4) Hydroxysafflor yellow A and inosine protected PC12 cells against the injuries caused by glutamate; and 5) Formononetin, astragaloside IV, astraisoflavan-7-O-β-D-glucoside, inosine, paeoniflorin, ononin, paeonol, propyl gallate, ligustrazine, and ferulic acid significantly suppressed the constriction of the thoracic aorta induced by KCl in rats. In conclusion, the results from the present study suggest that BYHWD exerts its ischaemic stroke ameliorating activities by modulating multiple targets with multiple components.

Rhododendron Molle (Ericaceae): phytochemistry, pharmacology, and toxicology / 中国天然药物

Rhododendron molle G. Don, belonging to the Ericaceae family, is a traditional Chinese medicinal plant with a wide spectrum of pharmacological effects. This paper aimed to review the phytochemistry, pharmacology and toxicology of R. molle, and to discuss the tendency of future investigations on this plant. A systematic review of literature about R. molle was carried out using resources including classic books about Chinese herbal medicine, and scientific data bases including CNKI, Pubmed, SciFinder, Scopus, and Web of Science. Over 67 compounds, including diterpenes, triterpenes, flavonoids, and lignans, had been extracted and identified from R. molle. The extracts/monomers isolated from the root, flower and fruits of this plant were used as effective agents for treating pains, inflammatory diseases, hypertension, and pest, etc. In addition, diterpenes, such as rhodojaponin III, were considered as the toxic agents associated with the toxicities of this plant. These findings will be significant for the discovery of new drugs from this plant and full utilization of R. molle.

A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy / 中华医学杂志(英文版)

<p><b>Background</b>Facioscapulohumeral muscular dystrophy (FSHD) is characterized by asymmetric muscular deficit of facial, shoulder-girdle muscles, and descending to lower limb muscles, but it exists in several extramuscular manifestations or overlapping syndromes. Herein, we report a "complex disease plus" patient with FSHD1, accompanied by peripheral neuropathy and myoclonic epilepsy.</p><p><b>Methods</b>Standard clinical assessments, particular auxiliary examination, histological analysis, and molecular analysis were performed through the new Comprehensive Clinical Evaluation Form, pulsed-field gel electrophoresis-based Southern blot, Multiplex Ligation-dependent Probe Amplification (MLPA), whole exome sequencing (WES), and targeted methylation sequencing.</p><p><b>Results</b>The patient presented with mild facial weakness, humeral poly-hill sign, scapular winging, peroneal weakness, drop foot, pes cavus, and myoclonic epilepsy. Furthermore, electrophysiology revealed severely demyelinated and axonal injury. The muscle and nerve biopsy revealed broadly fiber Type II grouping atrophy and myelinated nerve fibers that significantly decreased with thin myelinated fibers and onion bulbs changes. Generalized sharp and sharp-slow wave complexes on electroencephalography support the diagnosis toward myoclonic epilepsy. In addition, molecular testing demonstrated a co-segregated 20-kb 4q35-EcoRI fragment and permissive allele A, which corresponded with D4Z4 hypomethylation status in the family. Both the patient's mother and brother only presented the typical FSHD but lacked overlapping syndromes. However, no mutations for hereditary peripheral neuropathy and myoclonic epilepsy were discovered by MLPA and WES.</p><p><b>Conclusions</b>The present study described a "tripe trouble" with FSHD, peripheral neuropathy, and myoclonic epilepsy, adding the spectrum of overlapping syndromes and contributing to the credible diagnosis of atypical phenotype. It would provide a direct clue on medical care and genetic counseling.</p>

HRCT vascular sign research in tiny ground glass nodules-like lung adenocarcinoma / 实用放射学杂志

Objective To study classification of vascular sign of tiny ground glass nodules-like lung adenocarcinoma in HRCT, and explore its value to differentiate benign from malignant of the ground glass nodules(GGN).Methods 87 patients with tiny ground glass nodules-like lung adenocarcinoma examined on HRCT were retrospectively evaluated.According to the new pathological classification standard of lung adenocarcinoma,they were divided into three groups:(1)pre-invasive group(n=25),including 14 cases of atypical adenomatous hyperplasia(AAH)and 11 cases of adenocarcinoma in situ(AIS);(2)minimally invasive adenocarcinoma (MIA)group(n=35);(3)invasive adenocarcinoma(IAC)group(n=27).The lesions were divided into three types according to the grinding of glass composition proportion:Type A,pure ground glass nodules(pGGN);Type B,mixed ground glass nodules (mGGN)which contained glass composition≥50%;Type C,mGGN which contained glass composition < 50%.The vascular sign of GGN were divided into four types:Type 1,without vessels passing through the GGN,or vessels passing by GGN;Type 2,intact vessels passing through GGN,but vascular morphology is normal;Type 3,single vessels passing through GGN,and distorted,stiff vessels seen within GGN;Type 4,two or more vessels passing through GGN,and branches between vessels formed in GGN,and the diameter of vessel was irregular,partial enlargement.The relationship among the size of the GGN,content of the grinding of glass proportion and the vascular sign of GGN were analyzed both in axial images and reconstruction images.Results There were significant differences in size among the three groups(P=0.032,P=0.000,P=0.000).There were significant differences between content of the grinding of glass proportion and classification of vascular sign of GGN(P=0.000).Type 1 and type 2 vascular sign were dominant in the infiltrating former group,a total of 24 cases(96%).The incidence of type 3 and type 4 vascular sign in MIA group and IAC group was 60% and 74% respectively,and there were significant differences with the infiltrating former group(P=0.000,0.000).Further analysis indicated that type 3 was more commonly seen in MIA with comparison to type 4 which was more likely seen in IAC,the difference was statistically significant(P=0.043).Conclusion To study HRCT vascular sign of tiny ground glass nodules-like lung adenocarcinoma can improve the ability of the GGN benign and malignant diagnosis,provide reliable basis for clinical diagnosis and treatment.