Objective:To explore the degree of fear of pain in bum patients and analyze the related factors of fear of pain.Methods:519 cases of bum inpatients were selected and investigated by using the Fear of Pain Ques-tionnaire(FPQ),the Medical Coping Modes Questionnaire(MCMQ)and the Family APGAR Index(APGAR).Re-sults:The score of fear of pain in burn patients was(95.5±16.3).The results of multiple linear regression analysis showed that the score of fear of pain was positively correlated with male,moderate and severe burn and hospitaliza-tion time over 4 weeks(β=0.22,0.35,0.41),and negatively correlated with the scores of family function of the Family APGAR Index and coping style of the Medical Coping Modes Questionnaire(β=-0.29,-0.16).Con-clusion:Male patients with moderate and severe bums who have been hospitalized for more than 4 weeks are more likely to have a higher level of fear of pain,and burn patients with better family function and coping style may have a lower degree of fear of pain.

Objective:To compare the differences of clinical characteristics of temporal lobe epilepsy with bilateral hippocampal sclerosis (TLE-bHS) with those of temporal lobe epilepsy with unilateral hippocampal sclerosis (TLE-uHS).Methods:A retrospective analysis was performed. Forty-eight patients with confirmed TLE-bHS enrolled in Epilepsy Center, Department of Neurology, Second Affiliated Hospital, Medical School of Zhejiang University from January 2013 to January 2022 were chosen, and 101 patients with confirmed TLE-uHS admitted to our hospital at the same time period were selected as controls. Clinical data such as onset age, disease course, past medical history, seizure frequency, anti-seizure medications, video EEG and neuropsychological test results, and outcomes were analyzed.Results:Compared with the TLE-uHS group, the TLE-bHS group had higher male proportion, elder onset age, shorter disease course, higher seizure frequency, more types of past and currently used anti-seizure medications, lower proportion of autonomic nerve with aura, higher proportion of no aura at onset, higher proportion of slow head background movement in video EEG, and lower memory quotient, verbal memory scores and non-verbal memory scores, with significant differences ( P<0.05); the differences in ratio of past medical history and ratio of distributions of regions with interictal epileptiform abnormalities between the 2 groups were statistically significant ( P<0.05): the TLE-bHS group had significantly higher proportion of previous intracranial infection/encephalitis and higher ratio of bilateral temporal epileptiform abnormalities than the TLE-uHS group, while the TLE-uHS group had significantly higher proportion of patients with febrile convulsion history and higher ratio of unilateral temporal epileptiform abnormalities ( P<0.05). Only 10 patients (20.8%) in the TLE-bHS group received non-drug therapy, including anterior temporal lobectomy in 3 patients (Engel grading I in postoperative follow-up for 2 years), neuroregulatory therapy in 4, and ketogenic diet in 4; of the 55 patients (54.5%) in the TLE-uHS group who underwent anterior temporal lobectomy, 48 patients (87.3%) had Engel grading I, 1 patient (1.8%) had grading II, 4 (7.3%) had grading III, and 2 (3.6%) had grading IV after 2 years of follow-up. Conclusion:Differences in onset age, disease course, past medical history, seizure frequency, anti-seizure medications, and video EEG and neuropsychological test results can help to discriminate patients with TLE-bHS or with TLE-uHS.

Objective:To analyze the clinical features and follow-up data in children with neuropsychiatric lupus erythematosus (NPSLE), and provide reference for the diagnosis and treatment of NPSLE.Methods:The clinical data of 22 children with NPSLE who were admitted to the Department of Rheumatology Immunology and Allergy, Children′s Hospital of Zhejiang University School of Medicine from January 2019 to March 2022 were included and were followed-up for 24~60 months. The data were analyzed retrospectively. Statistical descriptive analysis was performed using the SPSS 23.0.Results:Twenty-two (26.8%, 22/82) children with NPSLE occurred in the hospitalized children with SLE during the study period. The ratio of male to female was 1∶4.5, and the onset age was (10.7±2.0) years. Among these cases, 86.4% (19/22) patients were newly diagnosed and had severe disease activity and 16 cases (72.7%) occurred within 1 month after disease onset. Nineteen cases (86.4%) had mucocutaneous involvement, 16 cases (72.7%) had lupus nephritis, 14 cases (63.2%) had hematological system involvement, 13 cases (59.1%) had skeletal muscle involvement, 10 cases (45.5%) had serositis, 10 cases (45.5%) were complicated with hypertension, and 8 cases (36.5%) with macrophage activation syndrome (MAS). The main clinical symptoms of the nervous system included headache (11/19, 57.9%), dizziness (10/19, 52.6%), listlessness (7/19, 36.8%), blurred vision (4/19, 21.1%), convulsions (3/19, 15.8%), lethargy (2/19, 10.5%). Twenty patients (20/22, 90.9%) demonstrated abnormal signals on brain MRI, 7 cases (7/12, 45.5%) showed abnormal signals on brain CT, 10 cases (10/22, 45.5%) showed abnormal waves on EEG, and 6 cases (6/20, 30.0%) demonstrated abnormal results of cerebrospinal fluids analysis. The follow-up duration was 34 (28, 48) months. Clinical remission or low disease activity was found in 19 patients (86.4%), and no death were observed. Three cases had residual cerebral infarction lesions, no neurological sequelae were found in all patients.Conclusion:The most common symptoms of NPSLE in children are headache and dizziness, which are more likely to occur in patients with initial onset and severe disease activity, and approximately 36.5% children with NPSLE may complicated by MAS.The results of 24-60 months follow-up showed that the prognosis of the disease is good.

BACKGROUND:Currently,there have been a variety of conservative and surgical treatment plans for spontaneous osteonecrosis of the knee,achieving excellent results.However,a broad consensus on indication and guide of surgical treatment has not been announced.In clinical practice,there is still a misunderstanding that unicondylar replacement or total knee arthroplasty should be performed upon the discovery of spontaneous osteonecrosis of the knee,while an urgent need for universal access to the concept of stepwise therapy. OBJECTIVE:To summarize and find the factors leading to the poor effect of conservative treatment in spontaneous osteonecrosis of the knee,which occurred on the medial femoral condyle,from the literature and clinical cases,at the same time,combined with the Koshino stage,to propose the strategy of stepwise spontaneous osteonecrosis of the knee treatment on the medial femoral condyle. METHODS:A systematic search of the literature database was conducted to summarize the factors leading to poor outcomes of conservative treatment in spontaneous osteonecrosis of the medial femoral condyle.Meanwhile,according to the Clinical&Health Records for analytics&Sharing system,the cases receiving conservative and surgical treatment in spontaneous osteonecrosis of the medial femoral condyle in the Department of Orthopedics of Guangdong Provincial Hospital of Chinese Medicine from January 2017 to January 2023 were analyzed retrospectively,then the causes of success and failure in typical cases were summarized and analyzed. RESULTS AND CONCLUSION:(1)Early diagnosis and treatment of spontaneous osteonecrosis of the knee were very important for prognosis.For sudden knee pain in some patients,if no obvious abnormality was found in the X-ray examination,and the symptoms persisted and could not be relieved for more than 1 week,an MRI examination was recommended to detect early spontaneous osteonecrosis of the knee.(2)The X-ray images of Koshino stage 1 and stage 2 of spontaneous osteonecrosis of the medial femoral condyle were difficult to be distinguished,which needed to be probed by MRI.MRI images of Koshino stage 1 were mainly characterized by bone marrow edema,and an osteonecrosis area with a clear boundary was not formed,while MR images of Koshino stage 2 showed a necrotic area with a clear boundary.(3)Five factors leading to the poor effect of conservative treatment on spontaneous osteonecrosis of the medial femoral condyle were summarized:a.The necrotic area was＞5 cm2;b.The necrotic area accounted for more than 40%of the condyle;c.relative compression percentage of medial meniscus≥33%(with or without medial meniscus injury and subchondral bone marrow edema);d.MRI depth of necrotic area(anterior-posterior diameter of sagittal necrotic area)＞20 mm;e.varus deformity of lower limb＞6°.(4)Conservative treatment of spontaneous osteonecrosis of the knee in Koshino stage 1 was good.For spontaneous osteonecrosis of the knee in Koshino stage 2,conservative treatment was preferred or combined with drilling decompression.If there was no relief or improvement of symptoms or in MRI after 3 months,while the patient had any of the previous five factors,then knee preservation surgery should be considered.For spontaneous osteonecrosis of the knee in Koshino stage 3 and stage 4,knee preservation surgery should be selected based on the previous five factors,including age,gender and activity level of the patient.Total knee arthroplasty was used for spontaneous osteonecrosis in Koshino stage 4,which was associated with symptomatic patellofemoral arthritis,valgus alignment,or necrotic area,which greatly affected the stability of unicondyle prosthesis.

  Objective  To summarize the clinical characteristics and RNF216 gene mutation of a patient with Gordon Holmes syndrome (GHS), and to improve the understanding of the genetic and clinica characteristics of this disease through literature review.  Methods  We collected the clinical data of the patient with GHS, extracted the DNA from 2 mL peripheral venous blood of the patient and his parents for whole exome gene detection, and then we analyzed the clinical and genetic characteristics of all previously reported patients with RNF216 gene mutation.  Results  The young male patient was short in stature at sixyearsold and was diagnosed growth hormone deficiency.He had no secondary sexual characteristics by the age of 15 and was diagnosed hypogonadal hypogonadism.After the age of 22, he gradually developed abnormal gait and had progressive decline in speech, motor, and cognitive functions.Whole exome sequencing revealed a homozygous, nonsense mutation c.1549C>T (p.R517*) in the RNF216 gene.His parents were consanguineous and were heterozygous carriers of the mutations with phenotypic normality.Combined with literature review and this case report results showed that a total of 21 patients of the disease in the world and among them 15 had pathogenic variants of RNF216 gene mutation.7 of the 15 had truncated mutations, 5 had missense mutations, and 1 synonym mutation, 1 splice mutation, and 1 deletion mutation respectively.RNF216 gene mutation can be seen in neurodegenerative diseases with multiple overlapping symptoms of GHS, Huntington-like disease, and 4H syndrome.The main clinical manifestations are hypogonadotropic hypogonadism and early-onset progressive neurological dysfunction in adolescence or early adulthood.The median age of onset of neurological symptoms is 28 years old, featuring cerebellar ataxia, dysarthria, and cognitive impairment, as well as imaging manifestations of extensive white matter lesions and cerebellar atrophy.  Conclusions  The mutation of RNF216 gene can cause GHS.Genetic testing is helpful to the diagnosis and treatment of rare diseases.

ObjectiveTo summarize and compare the main traditional Chinese medicine （TCM） syndromes of Delta and Omicron variants of severe acute respiratory syndrome coronavirus 2 （SARS-CoV-2） carriers to provide references for the syndrome evolution and syndrome differentiation of SARS-CoV-2 infection. MethodThe TCM medical records of imported and local cases of infection with Delta and Omicron variants of SARS-CoV-2 in Changsha since September 23， 2021 to March 27， 2022 were collected， including 18 Delta variant cases and 36 Omicron variant cases. Their TCM diagnosis information and TCM pathogenesis were analyzed and compared. ResultThe common manifestations in Delta variant cases were cough， fever， chest distress/shortness of breath， sore muscles， nausea， dry mouth， dry or sore throat， thick and greasy tongue coating， and rapid and slippery pulse. The predominant pathogenesis was dampness-heat in the upper-energizer and heat stagnation in the lesser Yang combined with dampness. The occurrence of chest distress/shortness of breath， greasy tongue coating， slippery pulse， and the proportion of dampness-heat in the upper-energizer syndrome were higher in Delta variant cases than in Omicron variant cases （P<0.05）. The common manifestations in Omicron variant cases were itchy and sore throat， nasal congestion， running nose， fever， mild aversion to cold， dry mouth， dizziness， slightly reddish tongue with thin white coating， and rapid or wiry pulse. The predominant pathogenesis was wind-dryness invading defensive exterior， and heat stagnation in the lesser Yang. The occurrence of white-coated tongue and the proportion of wind-dryness invading defensive exterior syndrome were higher in Omicron variant cases than in Delta variant cases （P<0.05）. ConclusionThere are certain differences in TCM syndromes and the corresponding pathogenesis between Delta variant and Omicron variant cases in Changsha， Hunan. The Delta variant of SARS-COV-2 tends to induce dampness-heat syndrome， whereas Omicron variant infection tends to elicit wind-dampness syndrome， which is expected to provide a reference for the pathogenesis evolution of SARS-COV-2 infection.

Objective:To report the clinical characteristics, diagnosis, and treatment of 2 cases of X-linked acrogigantism(X-LAG).Methods:The clinical information of two patients were retrospectively reported, and peripheral blood DNA was collected for copy number variations detection.Results:Both patients had onset at age of two, with common clinical characteristics including linear growth acceleration, mild facial coarsening, enlargement of hands and feet, increased appetite, and snoring, etc. The heights Z scores of the two patients before treatment were + 6.86 and + 6.53, respectively. Growth hormone(GH) glucose inhibition test showed that GH nadir values were over 1 ng/mL and insulin-like growth factor-Ⅰ(IGF-Ⅰ) were 586.0 ng/mL and 1 042.0 ng/mL, respectively. Patient 1 received three cycles of octreotide microspheres therapy followed by surgery, and achieved clinical and biochemical remission. Patient 2 had lanreotide for 5.5 years but failed biochemical remission. Microduplication of Xq26.3, which contained pathogenic gene G-protein coupled receptor 101(GPR101), was found in germline DNA of two patients through copy number variation detection, leading to the diagnosis of X-LAG.Conclusion:It should be cautious of X-LAG when children below 2 years old presents symptoms such as overgrowth and so on. Medication combined with surgery is effective.

Objective:To explore the value of octreotide suppression test(OST) in predicting the efficacy of somatostatin receptor ligands(SRLs) in the treatment of active acromegaly.Methods:The clinical data of 76 patients with active acromegaly from 2011 to 2020 was retrospectively analyzed. OST was carried out as follows: After an overnight fasting and baseline sampling of growth hormone(GH), 100 μg octreotide was subcutaneously injected, and sampling for GH was obtained every 2 hours for 8 hours. All patients were treated with SRLs for at least 3 months. A good GH response is defined as a post-treatment random GH<1 μg/L or >80% fall compared with the baseline GH. A good insulin-like growth factor Ⅰ(IGF-Ⅰ) response is defined as IGF-Ⅰ<1.3 upper limit of normal(ULN) or >50% reduction compared with the baseline. If both GH and IGF-Ⅰ fulfill the criteria of a good response, it is defined as a good GH and IGF-Ⅰ response.Results:The baseline level of GH during OST was 15.00(6.38, 34.20) μg/L, the median time to reach the nadir GH was(3.65±1.65) hours, and the nadir GH level was 1.47(0.50, 4.19) μg/L. The median GH suppression rate was 89.12%(72.71%, 95.09%). When the cutoff value of GH suppression rate in predicting a good GH response was 89.32%, the area under the curve(AUC) was 0.74, with a sensitivity of 81.80% and specificity of 66.00%. When the cutoff value of GH suppression rate in predicting a good IGF-Ⅰ response was 93.14%, the AUC was 0.64, with a sensitivity of 50.00% and specificity of 75.60%. When the GH suppression rate was 90.71%, the AUC was 0.78, with the sensitivity of 83.30% and specificity of 70.00% in predicting a good GH and IGF-Ⅰ response. Compared with GH/IGF-Ⅰ non-responders, GH/IGF-Ⅰ responders displayed lower nadir GH during OST, higher GH suppression rate and IGF-Ⅰ reduction rate, and lower ratio of IGF-1 to ULN( P<0.05). Conclusion:GH suppression rate during the OST is a valuable predictor to evaluate the efficacy of SRLs in patients with acromegaly, with the highest sensitivity and specificity when the cutoff value is 90.71%.

Objective:To observe the postoperative complications and revision rates of robot arm-assisted unicompartment arthroplasty by means of a meta-analysis.Methods:Relevant databases including Cochrane Library, PubMed, EMBASE, Wanfang, VIP, CNKI, and Web of Science were searched by computer for high-quality studies on complications and revision rates after robot arm-assisted unicompartment arthroplasty in both English and Chinese from the database establishment date to March 2021. The quality of the studies retrieved was evaluated. Relevant data including postoperative complications, infection, pain, prosthesis loosening, and revision were extracted for a meta-analysis using STATA 15.0 software.Results:A total of 16 studies were included, including one randomized controlled study, 6 case-control studies and 9 cohort studies. By the methodological index for non-randomized studies (MINORS), 7 studies scored 14 points, 3 studies 13 points, one study 12 points, 4 studies 11 points, and one study 10 points. Meta analysis showed that the total rate of complications was 2% (95% CI: 1%to 4%) . Three studies used NAVIO robot, 7 studies MAKO robot, one study NAVIO and MAKO robots, and one study Acrobot robot. Since just one study used Acrobot robot, only MAKO and NAVIO robots were included for the subgroup analysis which showed that the postoperative complication rates for NAVIO and MAKO robots were 4.0% (95% CI: -2% to 10%) and 3% (95% CI: 1% to 5%) , respectively. The incidence of postoperative pain was 0.2% (95% CI: 0.1% to 0.3%), the incidence of postoperative infection 0.5% (95% CI: 0.3% to 0.8%), the incidence of postoperative prosthesis loosening 0.5% (95% CI: 0.3% to 0.8%), and the revision rate 2% (95% CI: 1% to 2%). According to the subgroup analysis of NAVIO and MAKO robots, their revision rates were 4% (95% CI: 2% to 7%) and 2% (95% CI: 1% to 2%), respectively. Conclusion:The clinical efficacy of robot arm-assisted unicompartment arthroplasty is good, for the complications in the patients are limited and the long-term survival rate of the prosthesis is excellent.

Advances in high-throughput sequencing (HTS) have fostered rapid developments in the field of microbiome research, and massive microbiome datasets are now being generated. However, the diversity of software tools and the complexity of analysis pipelines make it difficult to access this field. Here, we systematically summarize the advantages and limitations of microbiome methods. Then, we recommend specific pipelines for amplicon and metagenomic analyses, and describe commonly-used software and databases, to help researchers select the appropriate tools. Furthermore, we introduce statistical and visualization methods suitable for microbiome analysis, including alpha- and beta-diversity, taxonomic composition, difference comparisons, correlation, networks, machine learning, evolution, source tracing, and common visualization styles to help researchers make informed choices. Finally, a step-by-step reproducible analysis guide is introduced. We hope this review will allow researchers to carry out data analysis more effectively and to quickly select the appropriate tools in order to efficiently mine the biological significance behind the data.