Improved submucosal tunneling endoscopic resection with slant tunnel for submucosal tumors in proximal esophagus.

BACKGROUND: The improved submucosal tunneling endoscopic resection (STER) with slant tunnel was created by our group innovatively for submucosal tumors (SMTs) in the proximal esophagus. This study aimed to provide the preliminary results of the improved STER from our center. METHODS: The key step of the improved STER is establishing a slant tunnel instead of a vertical tunnel. After a longitudinal incision was made proximally in the inclined top to the tumor, a submucosal tunnel was established from the incision to the SMT slantingly. 28 patients undergoing STER with slant tunnel were enrolled in the retrospective study. Clinical results including en bloc resection, curative resection and complication were collected. RESULTS: All the submucous tumors located at proximal esophagus originated from muscularis propria were successfully resected by the innovative STER. Tumor size ranged from 18-43 mm, with 96.4% (27/28) en bloc resection rate and 92.9% (26/28) curative rate. Three patients suffered complication, 1 patient with mild pleural effusion and another 2 patients with fever for one day. All of the complications were cured by conservative treatment. CONCLUSIONS: STER with slant tunnel seems to provide an optional treatment for tumors in proximal esophagus.

Environmental cooperation system, ESG performance and corporate green innovation: Empirical evidence from China.

The Environmental Cooperation System (ECS) is a new exploration of the government's spatial environmental policy to meet the requirements of green and sustainable development, so it is very important to scientifically evaluate its green innovation effect. Based on China's A-share listed companies from 2006 to 2021, from the perspective of corporate ESG performance, we apply the multi-dimensional fixed-effects difference-in-differences (DID) model, and empirically test the impact, mechanism, and heterogeneity of the Environmental Cooperation System of Shenzhen-Dongguan-Huizhou Metropolis (ECS-SDHM) on corporate green innovation. It found that ECS-SDHM can significantly improve corporate green innovation, and the policy effect is more significant in the private enterprise group. Secondly, we use ESG rating score and decomposition indicators to deeply analyze the green innovation effect mechanism of ECS-SDHM from the perspective of ESG performance. The results show that ECS-SDHM can enhance corporate green innovation by significantly improving corporate ESG performance, environmental governance, and social governance. Further research found that both corporate environmental social responsibility and executives' overseas backgrounds can positively moderate the green innovation effect of ECS-SDHM by positively moderating the ESG performance mechanism.

Biodegradable bilayer hydrogel membranes loaded with bazedoxifene attenuate blood-spinal cord barrier disruption via the NF-κB pathway after acute spinal cord injury.

After spinal cord injury (SCI), blood-spinal cord barrier (BSCB) disruption and hemorrhage lead to blood cell infiltration and progressive secondary injuries. Therefore, early restoration of the BSCB represents a key step in the treatment of SCI. Bazedoxifene (BZA), a third-generation estrogen receptor modulator, has recently been reported to inhibit inflammation and alleviate blood-brain barrier disruption caused by traumatic brain injury, attracting great interest in the field of central nervous system injury and repair. However, whether BZA can attenuate BSCB disruption and contribute to SCI repair remains unknown. Here, we developed a new type of biomaterial carrier and constructed a BZA-loaded HSPT (hyaluronic acid (HA), sodium alginate (SA), polyvinyl alcohol (PVA), tetramethylpropane (TPA) material construction) (HSPT@Be) system to effectively deliver BZA to the site of SCI. We found that HSPT@Be could significantly reduce inflammation in the spinal cord in SCI rats and attenuate BSCB disruption by providing covering scaffold, inhibiting oxidative stress, and upregulating tight junction proteins, which was mediated by regulation of the NF-κB/MMP signaling pathway. Importantly, functional assessment showed the evident improvement of behavioral functions in the HSPT@Be-treated SCI rats. These results indicated that HSPT@Be can attenuate BSCB disruption via the NF-κB pathway after SCI, shedding light on its potential therapeutic benefit for SCI. STATEMENT OF SIGNIFICANCE: After spinal cord injury, blood-spinal cord barrier disruption and hemorrhage lead to blood cell infiltration and progressive secondary injuries. Bazedoxifene has recently been reported to inhibit inflammation and alleviate blood-brain barrier disruption caused by traumatic brain injury. However, whether BZA can attenuate BSCB disruption and contribute to SCI repair remains unknown. In this study, we developed a new type of biomaterial carrier and constructed a bazedoxifene-loaded HSPT (HSPT@Be) system to efficiently treat SCI. HSPT@Be could provide protective coverage, inhibit oxidative stress, and upregulate tight junction proteins through NF-κB/MMP pathway both in vivo and in vitro, therefore attenuating BSCB disruption. Our study fills the application gap of biomaterials in BSCB restoration.

A ubiquitin-related gene signature for predicting prognosis and constructing molecular subtypes in osteosarcoma.

Background: Ubiquitination is medicated by three classes of enzymes and has been proven to involve in multiple cancer biological processes. Moreover, dysregulation of ubiquitination has received a growing body of attention in osteosarcoma (OS) tumorigenesis and treatment. Therefore, our study aimed to identify a ubiquitin-related gene signature for predicting prognosis and immune landscape and constructing OS molecular subtypes. Methods: Therapeutically Applicable Research to Generate Effective Treatments (TARGET) was regarded as the training set through univariate Cox regression, Lasso Cox regression, and multivariate Cox regression. The GSE21257 and GSE39055 served as the validation set to verify the predictive value of the signature. CIBERSORT was performed to show immune infiltration and the immune microenvironment. The NMF algorithm was used to construct OS molecular subtypes. Results: In this study, we developed a ubiquitin-related gene signature including seven genes (UBE2L3, CORO6, DCAF8, DNAI1, FBXL5, UHRF2, and WDR53), and the gene signature had a good performance in predicting prognosis for OS patients (AUC values at 1/3/5 years were 0.957, 0.890, and 0.919). Multivariate Cox regression indicated that the risk score model and prognosis stage were also independent prognostic prediction factors. Moreover, analyses of immune cells and immune-related functions showed a significant difference in different risk score groups and the three clusters. The drug sensitivity suggested that IC50 of proteasome inhibitor (MG-132) showed a notable significance between the risk score groups (p < 0.05). Through the NMF algorithm, we obtained the three clusters, and cluster 3 showed better survival outcomes. The expression of ubiquitin-related genes (CORO6, UBE2L3, FBXL5, DNAI1, and DCAF8) showed an obvious significance in normal and osteosarcoma tissues. Conclusion: We developed a novel ubiquitin-related gene signature which showed better predictive prognostic ability for OS and provided additional information on chemotherapy and immunotherapy. The OS molecular subtypes would also give a useful guide for individualized therapy.

Human Bone Marrow Mesenchymal Stem Cell-Derived Exosomes Attenuate Blood-Spinal Cord Barrier Disruption via the TIMP2/MMP Pathway After Acute Spinal Cord Injury.

After spinal cord injury (SCI), destruction of the blood-spinal cord barrier (BSCB) results in infiltration of blood cells, such as neutrophils and macrophages, leading to permanent neurological dysfunction. Previous studies have shown that human bone marrow mesenchymal stem cell (BMSC)-derived exosomes have a beneficial neuroprotective effect in SCI models. However, whether BMSC-Exos contribute to the integrity of the BSCB has not been clarified. The purpose of this study was to investigate the mechanism of BMSC-Exo-induced changes in the permeability of the BSCB after SCI. Here, we first used BMSC-Exos to treat an SCI rat model, showing that BMSC-Exos can inhibit BSCB permeability damage and improve spontaneous repair. Next, we found that tissue inhibitors of matrix metalloproteinase 2 (TIMP2) have been shown to play an important role in the function of BMSC-Exos by inhibiting the matrix metalloproteinase (MMP) pathway, thereby reducing the reduction of cell junction proteins. Therefore, we constructed siTIMP2 to knock out TIMP2 in BMSC-Exos, which caused the activity of BMSC-Exos to be significantly weakened. Finally, we constructed an in vitro model of BSCB with HBMECs and verified that TIMP2 in BMSC-Exos in vitro can also alleviate BSCB damage. This proof-of-principle study demonstrates that BMSC-Exos can preserve the integrity of the BSCB and improve functional recovery after SCI through the TIMP2/MMP signaling pathway.

Anticancer Effect of Rh2, a Histone Deacetylase Inhibitor, in HepG2 Cells and HepG2 Cell-Derived Xenograft Tumors Occurs via the Inhibition of HDACs and Activation of the MAPK Signaling Pathway.

PURPOSE: To investigate the effect of 20(S)-ginsenoside Rh2 (Rh2) on anti HepG2 liver cancer cells and HepG2 cell-derived xenograft tumors, and explore the underlying mechanisms. MATERIALS AND METHODS: The activity of total HDACs and HAT were assessed with a HDACs colorimetric kit. Expression of HDAC1, HDAC2, HDAC6, p-ERK, ERK, p-P38, P38, p-JNK and JNK proteins was tested by Western blotting.H3K9 and H3K14 proteins were also checked by immunofluorescence, changes in cell cycle distribution with flow cytometry, cell apoptosis with annexin V-FTIC/PI double staining. Activity of Renilla luciferase (HIF) was detected using the Luciferase Reporter Assay system reagent. Gene expression for CyclinD1, Bcl-2, Bax, HIF, IL-1, IL-6, IL-10 and TNF-α was tested by q-PCR. Expression levels of CD31 and Ki-67 was tested by immunohistochemical staining. RESULTS: Total HDAC activity was decreased and total histone acetyltransferase (HAT)activity was increased in a time-dependent manner. Expression of HDAC1 and p-JNK proteins was significantly increased, expression levels of p-ERK was decreased. H3K9 and H3K14 fluorescence protein were increased. Flow cytometric analysis of the cell cycle revealed that the percentage of cells in the G0/G1 phase in the treatment group(64.35±1.36%) was significantly increased compared with the untreated group(61.61±1.23%).The apoptotic rate of the HepG2 group was 10.03±1.92%, which increased to 17.87±1.67% in the treatment group. Expression levels of the transcription factor HIF were also increased in HepG2 cells following induction by Rh2. Expression of CyclinD1 and Bcl-2 at the genetic level was significantly decreased, while expression levels of Bax, HIF, IL-1, IL-6, IL-10 and TNF-α was increased. In vivo, the expression levels of both CD31 and Ki-67 proteins were significantly down-regulated in the treatment group compared with the control group. CONCLUSIONS: The effects of Rh2 were suggested to occur through the inhibition of total HDAC activity, which subsequently induced MAPK signaling and down-regulated the expression of HIF.
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Prognostic Signatures of Metabolic Genes and Metabolism-Related Long Non-coding RNAs Accurately Predict Overall Survival for Osteosarcoma Patients.

In this study, we identified eight survival-related metabolic genes in differentially expressed metabolic genes by univariate Cox regression analysis based on the therapeutically applicable research to generate effective treatments (n = 84) data set and genotype tissue expression data set (n = 396). We also constructed a six metabolic gene signature to predict the overall survival of osteosarcoma (OS) patients using least absolute shrinkage and selection operator (Lasso) Cox regression analysis. Our results show that the six metabolic gene signature showed good performance in predicting survival of OS patients and was also an independent prognostic factor. Stratified correlation analysis showed that the metabolic gene signature accurately predicted survival outcomes in high-risk and low-risk OS patients. The six metabolic gene signature was also verified to perform well in predicting survival of OS patients in an independent cohort (GSE21257). Then, using univariate Cox regression and Lasso Cox regression analyses, we identified an eight metabolism-related long noncoding RNA (lncRNA) signature that accurately predicts overall survival of OS patients. Gene set variation analysis showed that the apical surface and bile acid metabolism, epithelial mesenchymal transition, and P53 pathway were activated in the high-risk group based on the eight metabolism-related lncRNA signature. Furthermore, we constructed a competing endogenous RNA (ceRNA) network and conducted immunization score analysis based on the eight metabolism-related lncRNA signature. These results showed that the six metabolic gene signature and eight metabolism-related lncRNA signature have good performance in predicting the survival outcomes of OS patients.

Clinical and imaging analysis of diabetic striatopathy / 实用放射学杂志

Objective To investigate the clinical manifestation and imaging features of diabetic striatopathy(DS).Methods A retrospective analysis was conducted on the clinical,laboratory,and imaging data of 8 patients with DS,which was then summarized in conjunction with relevant literature.Results Random blood glucose(8.39-24.80 mmol/L)and glycated hemoglobin(HbA1c)(9.0%-21.50%)were elevated in 8 patients.One case had positive urine ketone bodies(++),while 7 cases had negative urine ketone bodies(-).Hemichorea was present in 7 cases,while 1 case did not exhibit hemichorea.A total of 7 cases showed unilateral striatum T1WI hyperintensity on MRI,and 8 cases showed iso/hyper-density on CT scans.Following blood glucose control and other related treatments,involuntary movement disappeared in 2 cases,and symptoms improved in 5 cases.Conclusion DS mainly occurs in diabetic patients with poorly controlled blood glucose,presenting with typical clinical manifestation and neuroimaging features.It manifests exclusively in the contralateral striatum of the affected limb.The diagnosis should be based on a combination of clinical,laboratory,and imaging findings to prevent missed or misdiagnoses.

Nutritional neuropathies / 中华神经科杂志

Neuropathies associated with nutritional deficiencies are not uncommon. Most neuropathies associated with nutritional deficiency are length dependent sensory axonal lesions, whereas the exception is cobalamin deficiency neuropathy, which is usually manifested as non-length dependent sensory neuropathy. Patients with cobalamin and copper deficiency neuropathy are characterized by myelopathy, while vitamin E deficiency is associated with spinocerebellar syndrome. Contrary to the neuropathy caused by nutrient deficiency, pyridoxine toxicity leads to non-length dependent sensory neuropathy. Malnutrition, malabsorption, increased nutritional loss (such as dialysis), autoimmune diseases (such as pernicious anemia) and some drugs that inhibit nutrient absorption can all lead to nutritional deficiency. Early detection and therapeutic nutritional supplement can stabilize or improve these neuropathies.

Analysis of the clinical characteristics of 25 cases with parenchymal neuro-Behcet's disease / 中华内科杂志

Objective: To retrospectively investigate the clinical data, radiological characteristics, treatment, and outcome of patients with parenchymal neuro-Behcet's disease (P-NBD) with particular emphasis on dizziness. Methods: This was a cross-sectional study of clinical data from 25 patients with a confirmed diagnosis of P-NBD who were admitted to the Department of Neurology of the First Medical Center of Chinese People's Liberation Army General Hospital between 2010 and 2022. The median age of the population was 37 years (range: 17-85 years). Clinical data were retrospectively analyzed, including gender, age of onset, disease duration, clinical manifestations, serum immune indicators, cerebrospinal fluid (CSF) routine biochemical and cytokine levels, cranial and spinal magnetic resonance imaging (MRI) findings, treatment, and outcome. Results: The majority of patients were male (16 cases; 64.0%), the mean age of onset was (28±14) (range: 4-58 years), and the disease course was acute or subacute. Fever was the most common clinical presentation, and the complaint of dizziness was not uncommon (8/25 patients). Analysis of serum immune indices, including complement (C3 and C4), erythrocyte sedimentation rate, interleukin-1 (IL-1), IL-6, IL-8 and tumor necrotic factor-alpha were abnormal in 80.0% of patients (20/25). Most of the 16/25 patients who underwent lumbar puncture tests had normal intracranial pressure and increased CSF white cell count and protein [median values were 44 (15-380) ×106/L and 0.73 (0.49-2.81) g/L, respectively]. Of the five patients who underwent CSF cytokine tests, four patients had abnormal results; of these, an elevated level of IL-6 was most common, followed by IL-1 and IL-8. The most common site of involvement in cranial MRI was the brainstem and basal ganglia (60.0% respectively), followed by white matter (48.0%) and the cortex (44.0%). Nine cases (36.0%) showed lesions with enhancement and six cases (24.0%) showed mass-like lesions. Three patients (12.0%) patients had lesions in the spinal cord, most frequently in the thoracic cord. All patients received immunological intervention therapy; during follow up, the majority had a favorable outcome. Conclusions: P-NBD is an autoimmune disease with multiple system involvement and diverse clinical manifestations. The symptom of dizziness is not uncommon and can be easily ignored. Early treatment with immunotherapy is important and can improve the outcome of these patients.

Morphological and genetical changes of endothelial progenitor cells after in-vitro conversion into photoreceptors.

BACKGROUND: Retinal degeneration is a condition ensued by various ocular disorders such as artery occlusion, diabetic retinopathy, retrolental fibroplasia and retinitis pigmentosa which cause abnormal loss of photoreceptor cells and lead to eventual vision impairment. No efficient treatment has yet been found, however, the use of stem cell therapy such as bone marrow and embryonic stem cells has opened a new treatment modality for retinal degenerative diseases. The major goal of this study is to analyze the potential of endothelial progenitor cells derived from bone marrow to differentiate into retinal neural cells for regenerative medicine purposes. METHODS: In this study, endothelial progenitor cells were induced in-vitro with photoreceptor growth factor (taurine) for 21 days. Subsequently, the morphology and gene expression of CRX and RHO of the photoreceptors-induced EPCs were examined through immunostaining assay. FINDINGS: The results indicated that the induced endothelial progenitor cells demonstrated positive gene expression of CRX and RHO. Our findings suggested that EPC cells may have a high advantage in cell replacement therapy for treating eye disease, in addition to other neural diseases, and may be a suitable cell source in regenerative medicine for eye disorders.

Clinical analysis of adult oculomoclonus-myoclonus syndrome with vertigo / 中华内科杂志

The clinical manifestation, physical and laboratory examination, electrophysiological, and imaging data of 2 female adult OMS patients with vertigo were analyzed at the Department of Neurology of the First Medical Center of Chinese PLA General Hospital from February 2021 to March 2022. The treatment strategy and clinical outcome were followed up. The two female patients were aged 42 and 66 years. Anti-NMDA receptor antibody and anti-GABAB receptor antibody were detected in serological screening, respectively. The two patients met the diagnostic criteria for OMS, and one was screened for breast tumor. The clinical symptoms of the two patients were relieved after immunomodulation therapy. OMS is a group of rare clinical syndromes; its clinical evaluation process should be standardized and the etiology should be actively searched for.

Clinical analysis of submucosal tunnel docking endoscopic resection for giant submucosal tumors in the cardia / 中华消化内镜杂志

Objective:To investigate the safety and efficacy of submucosal tunnel docking endoscopic resection (SDER) for the treatment of giant submucosal tumors in the cardia.Methods:A retrospective analysis was performed on data of patients with giant submucosal tumors in the cardia who were treated with SDER at the endoscopy center of Zhongshan Hospital, Fudan University and Xuhui District Central Hospital from January 2021 to January 2022. The surgical records, postoperative pathology, complications, hospitalization, and follow-up were analyzed.Results:A total of 6 patients were included. The mean long diameter of the lesions was 4.0 cm, all of which were located in the cardia. All patients successfully underwent SDER treatment with a surgical time of 23-42 min. Postoperative pathology revealed that 4 cases were leiomyomas and 2 cases were gastrointestinal stromal tumors. All lesions were completely resected. The postoperative hospital stay was 3-5 d, and no serious complications occurred after surgery. All patients recovered on follow-up gastroscopy at 3 and 6 months postoperatively.Conclusion:The preliminary conclusion is that SDER for the treatment of giant submucosal tumors in the cardia is safe, effective.

Retrospective Analysis of Death Cases of Oral Diphenidol Hydrochloride Poisoning / 法医学杂志

OBJECTIVES@#To explore the characteristics of postmortem examination, chemical examination and scene investigation of deaths caused by oral diphenidol hydrochloride poisoning, and so as to provide a reference for proper settlement and prevention of such deaths.@*METHODS@#The data of 22 deaths caused by oral diphenidol hydrochloride poisoning in a city from January 2018 to August 2020 were collected, including case details, scene investigations, autopsies, chemical examinations and digital evidence. Thirty-one cases of deaths caused by oral diphenidol hydrochloride poisoning reported in previous literature were also collected.@*RESULTS@#In the 53 oral diphenidol hydrochloride poisoning death cases, 50 cases were suicide, 2 cases were accidental, while 1 case was undetermined. Fifty-two cases were found in the medical records or crime scene investigation reports with doses ranging from 775 mg to 12 500 mg, and 23 deceased were detected with postmortem blood concentrations ranging from 2.71 mg/L to 83.1 mg/L. Clinical symptoms were recorded in 6 patients, including conscious disturbance and convulsion. Among the 45 cases which were performed with external examination, 23 cases autopsied.@*CONCLUSIONS@#Most of the deceased of oral diphenidol hydrochloride poisoning were suicide. No significant correlation was found between dose and blood concentration through the retrospective analysis of cases.

[Analysis of related factors for hepatic alveolar echinococcosis and gallbladder complications of children in Qinghai Province].

OBJECTIVE: To investigate the distribution characteristics of gallbladder diseases in children with hepatic alveolar echinococcosis, and to analyze the related factors for hepatic alveolar echinococcosis and gallbladder diseases. METHODS: The clinical data of hepatic alveolar echinococcosis patients under 18 years were collected in Qinghai Provincial People's Hospital-from January 2012 to December 2017, and the gallbladder-related complications in the surgically treated patients with hepatic al-veolar echinococcosis were analyzed. RESULTS: The clinical data of 51 child patients with hepatic alveolar echinococcosis were collected and analyzed. According to the PNM classification criteria of WHO, P1, P2 and P3 in the 51 patients accounted for 37.25% (19/51), 41.18% (21/51) and 19.60% (10/51), respectively. According to the diagnostic criteria (WS 257-2006) of China for echinococcosis, the patients of infiltration type, calcification type and liquefaction cavitary type accounted for 66.67% (34/51), 21.57% (11/51) and 11.76% (6/51), respectively. Among the 51 patients, 78.43% (40/51) of the patients had clinical symptoms of biliary tract disease, and 58.82% (30/51) had gallbladder-related complications. The operations were performed on 40 patients, and 77.50% (31/40) of them had the postoperative complications. The results of binary multivariate logistic regression analysis showed that the clinical image classification, the liver segment distribution, size, location and number of lesions of hepatic alveolar echinococcosis were important correlative factors for the occurrence of gallbladder complications in hepatic alveolar echinococcosispatients. CONCLUSIONS: The incidence of complications related to gallbladder diseases is higher in the children with hepatic alveolar echinococcosis in Qinghai Province, and it has great influence on the operation mode and the occurrence and prognosis of postoperative complications. The early diagnosis and treatment of alveolar echinococcosis in children is particularly important.

Clinical analysis and literature review of sporadic amyotrophic lateral sclerosis caused by a novel mutation of MATR3 gene / 中华神经科杂志

Objective:To analyze the clinical data and related literature of sporadic amyotrophic lateral sclerosis (sALS) caused by a new mutation of MATR3 gene.Methods:A sALS patient with MATR3 gene mutation who was admitted to the Department of Neurology, the First Medical Center of Chinese People′s Liberation Army General Hospital was collected. The examination of biochemistry, electromyography, cranial magnetic resonance imaging (MRI) and genetic tests, etc, were performed. Whole exon sequencing was performed to screen the disease-causing genes. Sanger sequencing was also performed to validate the mutation sites of the patient. Genetic harmfulness was predicted by multiple computational softwares, including SIFT Pred, Polyphen-2 HVAR Pred and MutationTaster Pred. Clinical characteristics of ALS induced by different MATR3 gene mutation sites were summarized by database retrieval.Results:The patient was a 69-year-old female, who began to show bulbar muscle weakness and then gradually developed to the facial muscles, including temporalis and masseter, and four limbs. In addition to the upper and lower motor neuron damage found in physical examination of the patient, the obvious facial muscle atrophy was also found in the patient. There was no family history of ALS in this patient. In terms of auxiliary examination, creatine kinase, rheumatism immunity and tumor markers were all normal. Cranial MRI showed no structural lesions and abnormal signals at the course of pyramidal tract. Electromyography suggested extensive neurogenic damage, decreased amplitude of repeated stimulation, abnormal measurement of blink reflex (BR) and skin sympathetic response (SSR). A heterozygous variant c.1472A>G (p.Y491C) of the MATR3 gene, which is a missense mutation, was detected in the patient. The variant was predicted as a harmful mutation by multiple computational softwares.Conclusions:A variant c.1472A>G (p.Y491C) of the MATR3 gene may be the pathogenic mutation of the patient. The patient not only has similar clinical manifestations to those of classic ALS, but also has facial muscle involvement. The electromyography shows abnormal SSR and BR.

GNE myopathy in a Chinese male with a novel homozygous mutation.

GNE myopathy is a rare autosomal recessive inheritance disease due to the mutation of GNE gene. To date, 107 mutations have been reported in different populations worldwide in GNE gene(HGMD Professional 2016.2). Here we report a patient of novel homozygous GNE gene mutation from China.

Clinical analysis of skeletal muscle and small fiber involvement associated with anti-contactin-associated protein-like 2 antibodies positive Morvan syndrome / 中华神经科杂志

Objective:To analyze the clinical data of a patient with anti-contactin- associated protein-like 2 (CASPR2) antibodies-related Morvan syndrome (MoS) and the related literature, and summarize the clinical characteristics of MoS patients.Methods:Clinical data of a CASPR2 antibodies-related MoS patient who was admitted in the Department of Neurology, the First Medical Center of Chinese People′s Liberation Army General Hospital in June 2021 were collected. CASPR2 IgG was detected by cell-based assay. Positron emission tomography/computed tomography (PET/CT), skin sympathetic response (SSR) and other examinations were performed. Clinical profiles of MoS patients were summarized by database retrieval.Results:The patient was a 55-year-old man presenting with peripheral nerve hyperexcitability, autonomic dysfunctions, neuropsychiatric symptoms and pain. Physical examination showed cognitive impairment, muscle quivering and absent deep-tendon reflexes. There was no family history of MoS and poisons exposure in this patient. Auxiliary examination showed serum creatine kinase was elevated (570 U/L) and antinuclear antibodies were positive (granular-type 1∶320). Other rheumatic and immunological antibodies, erythrocyte sedimentation rate, autoantibody profile, tumor marker, thyroid function, etc, were normal. Cerebrospinal fluid (CSF) protein and immunoglobulin were slightly higher. CASPR2 antibodies were positive in both serum and CSF (serum: 1∶100, CSF: 1∶10). Needle electromyography showed myokymic discharges, motor and sensory nerve conduction velocities were normal. SSR showed no waveform was elicited from both hands and feet. Cranial magnetic resonance imaging suggested scattered ischemic changes in the brain. PET/CT showed local metabolism increased slightly in soft tissues of bilateral shoulder and back, right lumbar and back muscles and bilateral gluteus medius. A total number of 232 cases of MoS patients were found in literature reports, most of which were male. The most common clinical manifestations were sleep disorders, and cognitive deficits accounted for 32.3%. Among them, skeletal muscle involvement was found in only 1 case by PET, and 4 patients had SSR abnormalities. Most of the patients had favorable neurological outcomes after the immunotherapy.Conclusions:MoS, as an autoimmune syndrome, may present with high uptake of skeletal muscle in PET/CT examination. Skeletal muscle involvement is a rare clinical manifestation of this disease. SSR as an electrophysiological test to evaluate autonomic neuropathy, its clinical value should be further strengthened.