[Effect of plasminogen activator urokinase receptor gene on the activation and apoptosis of neutrophil].

Objective: To investigate the effect of plasminogen activator urokinase receptor (PLAUR) gene on neutrophil activation and apoptosis in neutrophil-like cell model. Methods: Human acute myeloid leukemia cell line HL60 was cultured in vitro and induced to differentiate into neutrophil-like cells by all-trans retinoic acid (ATRA). Lentiviral vectors interfering with human PLAUR gene was constructed and transfected into neutrophil-like cells (siRNA group). The phosphate buffer saline (PBS) group (untransfected neutrophil-like cells) and normal blank control group (NC group) (neutrophil-like cells transfected with blank plasmid) were used as controls (n=3). After starvation culture and addition of interleukin-17 afterwards in these 3 groups, the expression of CD11b on the cell membrane was detected by flow cytometry, and the levels of myeloperoxide (MPO) and extracellular neutrophil traps (NETs) in the supernatant were detected by enzyme-linked immunosorbent assay (ELISA) to investigate the activation of neutrophil-like cells. The apoptosis was detected by flow cytometry with annexin V/propidium iodide (PI) double staining and the expressions of apoptosis-related proteins caspase-3, bax and bcl-2 were detected by Western blotting. Results: The expression of CD11b in siRNA group (32.37±8.17) was lower than that in PBS group (46.27±1.54) and NC group (53.07±8.14) (P<0.05) by flow cytometry. The levels of MPO and NETs (33.37±1.11, 57.69±3.03) in the supernatant of siRNA group were significantly lower than those in PBS group (41.64±2.20, 77.60±4.33) and NC group (40.84±5.11, 76.15±2.10) (P<0.05). Flow cytometry with annexin V/PI showed that the expression of apoptosis in siRNA group (20.42%±2.45%) was significantly higher than that in PBS group (11.91%±2.23%) and NC group (11.13%±2.56%) (P<0.05). The relative expression of caspase-3 protein and bax protein (0.84±0.05, 0.83±0.04) in siRNA group was significantly higher than that in PBS group (0.68±0.02, 0.63±0.08) and NC group (0.71±0.01, 0.66±0.10) (P<0.05), and the relative expression of anti-apoptosis protein bcl-2 decreased in siRNA group (0.38±0.02) than in PBS group (0.73±0.05) and NC group (0.69±0.06) (P<0.05). Conclusion: PLAUR promotes the activation of neutrophil-like cells and inhibits the apoptosis.

[Incidence and prognosis of olfactory and gustatory dysfunctions related to infection of SARS-CoV-2 Omicron strain: a national multi-center survey of 35 566 population].

Objective: This cross-sectional investigation aimed to determine the incidence, clinical characteristics, prognosis, and related risk factors of olfactory and gustatory dysfunctions related to infection with the SARS-CoV-2 Omicron strain in mainland China. Methods: Data of patients with SARS-CoV-2 from December 28, 2022, to February 21, 2023, were collected through online and offline questionnaires from 45 tertiary hospitals and one center for disease control and prevention in mainland China. The questionnaire included demographic information, previous health history, smoking and alcohol drinking, SARS-CoV-2 vaccination, olfactory and gustatory function before and after infection, other symptoms after infection, as well as the duration and improvement of olfactory and gustatory dysfunction. The self-reported olfactory and gustatory functions of patients were evaluated using the Olfactory VAS scale and Gustatory VAS scale. Results: A total of 35 566 valid questionnaires were obtained, revealing a high incidence of olfactory and taste dysfunctions related to infection with the SARS-CoV-2 Omicron strain (67.75%). Females(χ2=367.013, P<0.001) and young people(χ2=120.210, P<0.001) were more likely to develop these dysfunctions. Gender(OR=1.564, 95%CI: 1.487-1.645), SARS-CoV-2 vaccination status (OR=1.334, 95%CI: 1.164-1.530), oral health status (OR=0.881, 95%CI: 0.839-0.926), smoking history (OR=1.152, 95%CI=1.080-1.229), and drinking history (OR=0.854, 95%CI: 0.785-0.928) were correlated with the occurrence of olfactory and taste dysfunctions related to SARS-CoV-2(above P<0.001). 44.62% (4 391/9 840) of the patients who had not recovered their sense of smell and taste also suffered from nasal congestion, runny nose, and 32.62% (3 210/9 840) suffered from dry mouth and sore throat. The improvement of olfactory and taste functions was correlated with the persistence of accompanying symptoms(χ2=10.873, P=0.001). The average score of olfactory and taste VAS scale was 8.41 and 8.51 respectively before SARS-CoV-2 infection, but decreased to3.69 and 4.29 respectively after SARS-CoV-2 infection, and recovered to 5.83and 6.55 respectively at the time of the survey. The median duration of olfactory and gustatory dysfunctions was 15 days and 12 days, respectively, with 0.5% (121/24 096) of patients experiencing these dysfunctions for more than 28 days. The overall self-reported improvement rate of smell and taste dysfunctions was 59.16% (14 256/24 096). Gender(OR=0.893, 95%CI: 0.839-0.951), SARS-CoV-2 vaccination status (OR=1.334, 95%CI: 1.164-1.530), history of head and facial trauma(OR=1.180, 95%CI: 1.036-1.344, P=0.013), nose (OR=1.104, 95%CI: 1.042-1.171, P=0.001) and oral (OR=1.162, 95%CI: 1.096-1.233) health status, smoking history(OR=0.765, 95%CI: 0.709-0.825), and the persistence of accompanying symptoms (OR=0.359, 95%CI: 0.332-0.388) were correlated with the recovery of olfactory and taste dysfunctions related to SARS-CoV-2 (above P<0.001 except for the indicated values). Conclusion: The incidence of olfactory and taste dysfunctions related to infection with the SARS-CoV-2 Omicron strain is high in mainland China, with females and young people more likely to develop these dysfunctions. Active and effective intervention measures may be required for cases that persist for a long time. The recovery of olfactory and taste functions is influenced by several factors, including gender, SARS-CoV-2 vaccination status, history of head and facial trauma, nasal and oral health status, smoking history, and persistence of accompanying symptoms.

[Optimization of perioperative treatment strategies for locally advanced esophageal squamous cell carcinoma from the perspective of tumor heterogeneity].

Recent advances in multimodality treatment offer excellent opportunities to rethink the paradigm of perioperative management for locally advanced esophageal squamous cell carcinoma. One treatment clearly doesn't fit all in terms of a broad disease spectrum. Individualized treatment of local control of bulky primary tumor burden (advanced T stage) or systemic control of nodal metastatic tumor burden (advanced N stage) is essential. Given that clinically applicable predictive biomarkers are still awaited, therapy selection guided by diverse phenotypes of tumor burden (T vs. N) is promising. Potential challenges regarding the use of immunotherapy may also boost this novel strategy in the future.

[Advances of immunotherapy-related biomarker in esophageal carcinoma].

Esophageal carcinoma is one of the most common malignant tumors in the world, with incidence and mortality rankings of 7th and 6th, respectively. In recent years, immunotherapy represented by immune checkpoint inhibitors of programmed death-1 and programmed death ligand 1 (PD-L1) has been introduced into clinical practice and has changed the treatment status of esophageal cancer. Although immunotherapy has provided long-term survival benefits for patients with advanced esophageal cancer and high pathological response rates in the neoadjuvant therapy, only a few of the patients have satisfactory therapeutic outcomes. Therefore, effective biomarkers for predicting immunotherapeutic effects are urgently needed to identify those patients who could benefit from immunotherapy. In this paper, we mainly discuss recent research advances of biomarkers related to the immunotherapy of esophageal cancer and the clinical application prospects of these biomarkers.

Emotional responses of piglets under long-term exposure to negative and positive auditory stimuli.

The stress caused by sound is inevitable. The stress caused by noise and the positive effects of music can affect the endocrine of animals and their welfare. In this study, a total of 72 hybrid piglets (Large White × Duroc × Min pig) were randomly divided into 3 groups, including music (Mozart K.448, 60-70 dB), noise (recorded mechanical noise, 80-85 dB), and control (natural background sound, <40 dB) groups. S-IgA (secretory immunoglobulin A), IL-6 (interleukin-6), IL-8 (interleukin-8), and positive emotion-related behaviors were used as indicators to discuss whether noise induced stress and inflammation in piglets or whether music could have positive effects. Six hours of auditory exposure were given daily (10:00-16:00), which lasted for 56 days. Behavioral responses of the piglets were observed, and the concentrations of salivary S-IgA and serum IL-6 and IL-8 were measured. The results showed that the concentration of S-IgA increased in the noise and control groups on the 57th day (P < 0.05); S-IgA concentration in the music group was unchanged after long-term music exposure. The concentrations of IL-6 and IL-8 showed that long-term noise exposure might lead to stress and inflammation in piglets. Tail-wagging and play behaviors of the piglets in the music group were significantly greater than those in the noise and control groups, which implied that long-term music exposure improved the emotional state of the piglets in a restricted and barren environment.

[Endoscopic transoral resection of metastatic retropharyngeal lymph nodes in nasopharyngeal carcinoma via posteroinferior eustachian tube approach: a single center review study].

Objective: To summarize the clinical experience and treatment results of endoscopic transoral resection of metastatic retropharyngeal lymph nodes (MRPLN) in nasopharyngeal carcinoma (NPC) via posteroinferior eustachian tube approach. Methods: The clinical data of 37 patients with NPC who underwent endoscopic transoral surgery via posteroinferior eustachian tube approach for MRPLN in Xuanwu Hospital, Capital Medical University from 2010 to 2020 were analyzed retrospectively. There are 28 males and 9 females, aged from 31 to 72 years. The clinicopathological features such as gender, age, primary tumor stage, stage, side and size of MRPLN were recorded and analyzed. The surgical procedures of endoscopic transoral resection of MRPLN via posteroinferior eustachian tube approach were described. The MRPLN resection, perioperative complications and follow-up results were also summarized. Results: The primary tumors of 37 cases were determined as rT1 stage in 2 cases, rT2 stage in 30 cases and primary T2 stage in 5 cases in this study. There were 33 cases of unilateral MRPLN(89.2%), 4 cases of bilateral ones (10.8%), 36 cases in N1 stage, and 1 case in N3 stage. Single lymph node was detected in 23 cases(62.2%), and 2-5 lymph nodes in 14 cases(37.8%). Endoscopic transoral surgery via posteroinferior eustachian tube approach was completed in all cases. Total MRPLN resection was obtained in 35 cases (94.6%) with one-stage operation, and subtotal resection was achieved in 2 cases whose MRPLN involved the wall of internal carotid artery. No serious complications occurred in the perioperative period. During the follow-up period (median follow-up period 53.1 months), no recurrence of MRPLN was observed in patients who received total resection. And 8 patients (21.6%) died from different causes. Conclusion: Endoscopic transoral surgery via posteroinferior eustachian tube approach for MRPLN is a practicable and effective surgical option, but the long-term effect still needs longer follow-up and summary of bulk cases.

[Effects of ursolic acid on oxidative stress and inflammatory factors in a rat model of AR after PM2.5 exposure].

Objective: To investigate the effects of ursolic acid (UA) on oxidative stress and inflammatory factors in a rat model of AR after PM2.5 exposure. Methods: Sixty healthy female SD rats were randomly divided into five groups: normal control group (NC group), PM2.5 unexposed AR group (AR group), PM2.5 exposed AR group (ARE group), UA intervention AR group (AR+UA group), and UA intervention PM2.5 exposed AR group (ARE+UA group), with 12 rats in each group. AR model was performed by a basal sensitization with intraperitoneal injection of ovalbumin (OVA) and followed by nasal instillation. PM2.5 exposure was carried out by inhalation exposure system at a concentration of 200 µg/m3 for 3 h/d for 30 days. UA intervention group was given UA intragastric administration at 20 mg/(kg·d). AR symptoms including sneezing, nasal scratching and nasal secretion of rats in each group were observed. The activities of superoxide dismutase (SOD) and the level of malondialdehyde (MDA) in nasal mucosa were tested. The pathological changes of nasal mucosa were observed by HE staining. The levels of OVA-sIgE, IL-6 and IL-17 in serum were measured by enzyme-linked immunosorbent assay (ELISA). Protein microarray was used to measure the expression of multiple inflammation cell factors in nasal mucosa. Statistical analysis was performed with SPSS 20.0. Results: After UA intervention, the frequency of nasal sneezing, scratching and nasal secretion in ARE+UA group were lower than those of ARE group (P<0.05). Pathological examination of nasal mucosa showed that ARE+UA group had less inflammatory granulocyte infiltration and less pathological damage to the epithelial layer than ARE group. The activities of SOD in nasal mucosa of ARE+UA group were higher than those of ARE group ((50.10±3.09) U/mg vs (20.13±1.30) U/mg, F value was 597.54, P<0.01). The contents of MDA in nasal mucosa of ARE+UA group were lower than those of ARE group ((57.78±12.36) nmol/g vs (124.12±9.40) nmol/g, F value was 115.51, P<0.01). The expression levels of OVA-sIgE, IL-6 and IL-17 proteins were lower in the ARE+UA group than those in ARE group ((11.61±0.27) ng/ml vs (20.30±0.67) ng/ml, (47.59±15.49) pg/ml vs (98.83±10.98) pg/ml, (623.30±8.75) pg/ml vs (913.32±9.06) pg/ml, F value was 283.42, 80.45, 683.73, respectively, all P<0.01). After UA intervention, protein microarray analysis showed that the expression of IL-4, IL-6, IL-13, chemokine CXCL7, IL-1α, IL-1ß, MMP-8 and MCP-1 in ARE+UA group was decreased compared with ARE group while IFN-γ and IL-10 increased (all P<0.01). Conclusion: UA can reduce the aggravated AR symptoms and pathological damage of nasal mucosa, inhibit oxidative stress and release of inflammatory factors after PM2.5 exposure, and thus plays a protective role in the pathological damage of AR induced by PM2.5 exposure.

[Analysis of the characteristics of MRI T2 value changes of the muscles around the knee joint before and after the race in amateur marathon runners based on T2 mapping].

Objective: To evaluate the characteristics of MRI T2 value changes of muscles around the knee joint in amateur marathon athletes based on T2 mapping. Methods: A total of 12 amateur marathon runners (5 males and 7 females) were recruited as the marathon group, aged from 21 to 37(27.5±5.4) years. MRI examination of bilateral knee joint was performed one week before the race, within 12 hours after the race and two months after the race, respectively. Fifteen healthy volunteers (5 males and 10 females) were recruited as the control group, aged from 24 to 27(24.9±1.0) years, and underwent MRI examination of both knee joints. The T2 mapping imaging sequence was used to measure the T2 values of the sartorius, vastus medialis, biceps femoris, semimembranosus, medial head of gastrocnemius and lateral gastrocnemius head on the post-processing platform, and analyzed the marathon group before and after the race. The differences in the T2 value of each muscle of the marathon group before and after the race within 12 hours, before and 2 months after the race, and between the control group and the marathon group before the marathon were analyzed. Results: All subjects had not knee joint pain during the examination. Routine MRI examination showed that there was no obvious abnormality in the shape and signal of the muscles around the knee joint. The T2 value of the semimembranosus [(34.3±2.8) ms vs (35.5±2.5) ms, P=0.008], medial head of gastrocnemius [(34.1±3.4) ms vs (37.7±3.1) ms,P<0.001] and lateral head of gastrocnemius [(35.2±2.9) ms vs (37.2±3.9) ms,P=0.011] increased after the competition compared with that of pre-competition in the marathon group, while the T2 value of the remaining muscles showed no significant difference compared with that of pre-competition(P>0.05). At the follow-up of 2 months, the T2 value of semimembranosus remains higher than before the marathon [(34.3±2.8) ms vs (35.4±2.5) ms,P=0.043], and the T2 value of the medial head of the gastrocnemius and lateral head of gastrocnemius showed no statistically difference compared with pre-competition (P>0.05). Compared with the control group, the T2 value of the lateral head of the gastrocnemius in the marathon group was decreased [(35.3±3.0) ms vs (38.5±4.1) ms,P=0.007]. There was no significant difference in the T2 value of the remaining muscles in the marathon group (P>0.05). Conclusions: After the marathon, the changes in the T2 value of the muscles around the knee joint is reversible. T2 mapping imaging sequence can indirectly reflect the changes of skeletal muscle microstructure to a certain extent.

[Oligometastatic and oligoprogressive esophageal squamous cell carcinoma:clarifying conceptions and surgery perspectives].

The oligometastatic and oligoprogressive state has been a hot issue in cancer research. Its indolent tumor behavior, representing a novel therapeutic opportunity, has been identified as a clinical subtype in several malignancies. However, the clinical implications of the oligometastatic and oligoprogressive state in esophageal squamous cell carcinoma (ESCC) have not been thoroughly elucidated. There are still controversies regarding the existence of the oligometastatic state in ESCC, if the solitary regional lymph node metastasis should be viewed as oligoprogressive disease after esophagectomy, and the role of surgery and radiotherapy in ESCC oligometastatic disease. Despite many exciting contributions to the literature on these, further exploration is warranted. Thus, fostering the advance of research and scientific knowledge on the biological and prognostic characteristics scrupulously would facilitate personalizing treatment strategy for better outcomes.

[Meta-analysis of the therapeutic value of plasma exchange simple or combined with dual plasma molecular adsorption system for liver failure].

Objective: To systematically analyze the serological parameters, effective rate and survival rate of patients with liver failure after simple plasma exchange treatment and half-dose plasma exchange combined with dual plasma molecular adsorption system. Methods: Randomized controlled trials published in the full-text articles of Pubmed, Embase, Web of Science, The Cochrane Library, Wanfang, Weipu, CNKI, and other journals from June 2020 were retrieved. Revman 5.3 software was used to conduct the meta-analysis after the literature quality evaluation. Results: A total of 10 studies involving 884 cases were selected. Among them, 425 and 459 were treated with combination and simple plasma exchange therapy. The levels of TBIL (MD=-28.58, 95% CI: -37.42～-19.75, P<0.000 01) and ALB (MD=-2.00, 95%CI:-2.61～-1.39, P<0.000 01) were lower in the combined treatment group than those in the simple treatment group, and the difference was statistically significant. HGB (MD=5.96, 95%CI: 1.52-10.40, P=0.009), effective rate (OR=1.92, 95%CI: 1.29-2.85, P=0.001), and survival rate (OR=1.63, 95%CI: 1.13-2.36, P=0.009) were higher in the combined treatment group than those in the simple treatment group, and the difference was statistically significant.The two treatment methods had good curative effects for the improvement of ALT, AST, DBIL, PTA, INR, and PLT levels (P＜0.05), and there was no statistically significant difference between them (P＞0.05). Conclusion: Half-dose plasma exchange combined with dual plasma molecular adsorption system therapy not only effectively improves hyperbilirubinemia, efficacy, and survival rate while significantly reducing plasma dosage, but it also has fewer adverse effects on hemoglobin depletion in patients with liver failure than simple plasma exchange therapy.

Early social contact alters the community structure and functions of the faecal microbiome in suckling-growing piglets.

Social contact during suckling, in an enriched social environment, can reduce the aggressive behaviours of piglets during regrouping at weaning, and improve their production performance and welfare. The aim of this study was to determine the possible impact of suckling social contact on gut microbes. We performed 16S rRNA sequencing to measure the faecal microbial structure and function in piglets experiencing social contact. Eighteen-litter piglets were allocated to two treatments: an early continuous social contact (CSC) group where piglets from adjacent pens shared a mutual pen starting at 14 days postpartum and a control (CON) group where piglets had no contact with individuals from adjacent pens during the suckling period. The piglets were regrouped at 36 days of age. The litter weights at 35 and 63 days of age were measured. Faecal samples were randomly collected at 16, 35, 42, and 63 days of age and faecal DNA was determined. The results showed that the litter weight of piglets in the CSC group was significantly decreased at 63 days compared with the CON group. Continuous social contact also significantly decreased the microbial richness at 16 and 35 days of age (P < 0.05). Firmicutes was the most abundant bacterial phylum in both groups at all detected time-points and the abundance increased with social contact. At the genus level, Lactobacillus was the most abundant bacterium after weaning and the abundance increased in the piglets with social contact. Compared with the faecal microbiota of control piglets, a total of 22 genera at 16 days, 20 genera at 35 days, 12 genera at 42 days, and 27 genera at 63 days in the faeces of CSC piglets were observed to be significantly different in abundance (linear discriminant analysis score > 3, P < 0.05). Furthermore, functional analysis of the microbial composition showed that the changes induced by early CSC mainly altered the relative abundance of metabolic and related pathways. The social contact notably had an effect on the abundance of microbial pathways for amino acid and carbohydrate metabolism. In conclusion, CSC changed the microbial composition in the faeces of piglets, which might have a negative effect on nutrient metabolism for the suckling-growing piglets. Our study provided new insight into the influence of social contact on the suckling-growing piglets.

The therapeutic effects of the peptidyl-prolyl cis/trans isomerase Pin1 inhibitor juglone on animal-model experimental autoimmune encephalomyelitis.

Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system (CNS). There is currently no satisfactory treatment for this disease. Pin1 is the only known peptidyl-prolyl cis/trans isomerase (PPIase) that is involved in many cellular processes, including immune responses. Numerous studies have shown that juglone effectively inhibits Pin1 activity. However, the effect of Pin1 inhibitor juglone on autoimmune diseases such as multiple sclerosis (MS) and its animal model, experimental autoimmune encephalomyelitis (EAE), remain incomplete. So the present study aimed to explore the therapeutic effects of the Pin1 inhibitor juglone on EAE. EAE was induced in C57BL/6 mice with myelin oligodendrocyte glycoprotein (MOG)35-55 and treatment with juglone. The health status of EAE was observed and inflammation explored using pathological analysis. The impact of juglone on immune cells was further examined using intracellular staining and flow cytometry. The results demonstrated that juglone ameliorates EAE and reduces inflammation and demyelination in the CNS. The study also found that juglone suppresses pathogenic Th1 and Th17 cells and the expression of CD83 and MHCII on dendritic cells in EAE. In addition, juglone ameliorates EAE. Pin1 inhibitors therefore hold great promise for autoimmune disease and MS therapy.

[The application of scales and characteristics of disability in the common genotypes of Charcot-Marie-Tooth disease].

Objective: To analyze the correlations among different common scales for evaluating the severity of the first-visit Charcot-Marie-Tooth disease (CMT), and explore the cross-sectional characteristics of neurological dysfunction in patients with four common genotypes (CMT1A, CMT1X, CMT2A and MPZ-related CMT) at their first visits. Methods: A total of 117 genetically confirmed CMT patients (aged ≥10 years) from the Department of Neurology of the Third Xiangya Hospital from 2009 to 2019 were included in the study, which consisted of 45 CMT1A, 41 CMT1X, 19 CMT2A, and 12 MPZ-related CMT patients. Clinical data of these patients at first visits were collected and neurological deficits were evaluated by Charcot-Marie-Tooth Neuropathy Score (CMTNS), Charcot-Marie-Tooth Examination Score (CMTES), Overall Neuropathy Limitation Scale (ONLS) and Functional Disability Scale (FDS). Spearman's correlation was performed to analyze the relationship between CMTNS, CMTES, ONLS and FDS. The age of onset, duration of disease, scores of CMTNS, CMTES, ONLS and FDS were compared among four genotypes. Results: In the 117 CMT patients, the male to female ratio was 1.79/1, and the age of onset was (19±13) years. The duration of disease was 10(3, 15) years, and the scores of CMTNS, CMTES, ONLS and FDS were 11.4±6.2, 8.8±5.7, 2.7±1.4 and 2.6±1.3, respectively. There was a significant correlation between CMTES, ONLS, FDS and CMTNS in the overall CMT patients and four subtypes respectively (r≥0.40, P<0.05). CMTNS, CMTES and ONLS scores of four subtypes showed positive correlations with duration of disease (P<0.05), but FDS scores of CMT1A, CMT1X and MPZ-related CMT patients exhibited no correlation with duration of disease (P>0.05) at their first visits. The age of onset in CMT2A patients was younger than that of the patients with the other three genotypes (P<0.05), furthermore, the scores of four scales in early-onset CMT2A patients were higher than those of adult-onset type CMT2A patients (CMTNS: P=0.031, CMTES: P=0.048, ONLS: P=0.042, FDS: P=0.047). In CMT1X patients, the males had higher scores than those of females for all four scales (CMTNS: P=0.028, CMTES: P=0.014, ONLS: P=0.023, FDS: P=0.002). Conclusions: CMTNS, CMTES and ONLS could be used in natural history studies and clinical trials according to the different clinical situations. In the four genotypes, CMT2A patients have younger age of onset, and the earlier the age of onset, the severer the dysfunction. Moreover, male CMT1X patients relatively have severer neurological dysfunction than female patients.

[Quality of life of 22 patients with type 1 Gaucher disease after enzyme replacement therapy].

Objective: To investigate the living status and quality of life (QOL) in type1 Gaucher disease (GD1) patients who underwent long-term enzyme replacement therapy (ERT) and identify possible relevant factors affecting QOL. Methods: Clinical data and SF-36 questionnaires were recorded in 22 adult GD1 patients under regular ERT at Peking Union Medical Colleague Hospital (PUMCH) from January 1995 to June 2017. Results: 13 males and 9 females were included in this study. The current median age, age at diagnosis and initial time of ERT were 41 (24-52) , 6 (1-38) and 26 (6-41) years respectively. Of these patients, 68.2% was living in less-developed regions, 86.4% were under college education, and 77.3% had personal annual income less than ¥30 000 RMB. Though after a median 16 (7-22) years of ERT, the QOL of GD1 patients was still significantly worse (P<0.05) compared with normal Chinese population based on SF-36 questionnaires. History of splenectomy was a negative factor of QOL, mainly in physical health (P<0.05) . Patients could get benefit from early start of ERT in both physical and mental health (P<0.05) . Mental health was not affected by history of splenectomy and related bone diseases. Conclusion: Most adult GD1 patients at PUMCH reside in less-developed regions and have low levels of education and annual income. History of splenectomy and time to start ERT are two important factors affecting QOL. Chinese adult GD1 patients are associated with reduced QOL, even after long-term ERT.

[Analysis of differences in epidemiology and clinical features of Guillain-Barré syndrome between rural and urban areas of southern China].

Objective: To explore the differences in epidemiology and clinical features of Guillain- Barré syndrome (GBS) between rural and urban areas of southern China. Methods: The clinical data of 759 hospitalized GBS patients from 31 hospitals of 13 provinces/cities in southern China, between January 1st, 2013 and September 30th, 2016, were collected and analyzed retrospectively. Results: The risk of GBS was higher for males than females in rural and urban areas and the median age was 49 and 48 years, respectively. Seasonal clustering in winter and spring was noted in both rural and urban areas, and the seasonal trend was more markedly in rural areas, but the differences showed no statistical significance. There were 70.37% of patients in rural areas and 73.69% in urban areas who had antecedent respiratory infection. The median time from onset to nadir was 7 days, and Hughes Disability Scale at admission, nadir and discharge were (2.95±1.10 vs 2.84±1.15), (3.25±1.11 vs 3.14±1.21), (2.02±1.24 vs 2.00±1.31) in rural and urban areas respectively. Albuminocytologic dissociation was present in 84.34% of patients in rural areas and 84.62% of cases in urban areas. There were 8.65% and 10.94% of cases in rural and urban areas who required mechanical ventilation during hospitalization, respectively. Demyelinating GBS accounted for 53.29% and 48.77%, respectively, in patients with findings of nerve conduction studies available in rural and urban areas. Conclusions: GBS in rural areas of southern China showed male predominance and a peak of spring and winter occurrence, with respiratory infection as the predominated preceding events and demyelinating GBS being main clinical subtype. Winter and spring showed a higher incidence of GBS in rural and urban areas. There were no significant differences of sex, age, preceding events, season trend, progression of disease, clinical subtypes and cerebrospinal fluid investigations in GBS patients between rural and urban areas.