This article reports a rare case of autoinflammatory disease presenting initially with skin induration and swelling after trauma as the initial manifestation, followed by progressive limb weakness. The patient was a middle-aged female who developed skin induration and swelling after trauma, which gradually progressed to limb weakness, dysarthria and bilateral facial paralysis, accompanied by livedo reticularis of the lower extremities, diffuse skin induration of the limbs, and beaded subcutaneous nodules in the right upper limb. The patient had a susceptibility to infection since childhood and a history of chronic livedo reticularis. Skin pathological examination revealed panniculitis. A comprehensive etiological screening for special infections and autoimmune diseases was completed with an unremarkable results, and whole-exome sequencing showed no abnormal findings. Following a multidisciplinary discussion combined with RNA sequencing results, the patient was diagnosed with an autoinflammatory disease, with a suspected type Ⅰ interferonopathy. Treatment with tofacitinib resulted in gradual improvement of clinical symptoms. This case highlights the importance of detailed medical history collection, systematic physical examination and multidisciplinary collaborative diagnosis and treatment, and underscores the pivotal role of molecular diagnosis in the confirmation of rare diseases. It can provide a reference for the clinical diagnosis and management of similar rare cases.

Objective:To investigate the effect of immune checkpoint inhibitors on reducing residual lymph node metastasis in patients with gastric cancer.Methods:The cohort of this retrospective study comprised patients from Nanfang Hospital of Southern Medical University and the First Affiliated Hospital of Xiamen University who had undergone systemic treatment prior to gastrectomy with D2 lymphadenectomy and had achieved Grade 1 primary tumor regression (TRG1) from January 2014 to December 2023. After exclusion of patients who had undergone preoperative radiotherapy, data of 58 patients (Nanfang Hospital: 46; First Affiliated Hospital of Xiamen University: 12) were analyzed. These patients were allocated to preoperative chemotherapy (Chemotherapy group, N=36 cases) and preoperative immunotherapy plus chemotherapy groups (Immunotherapy group, N=22 cases). There were no significant differences between these groups in sex, age, body mass index, diabetes, tumor location, pathological type, Lauren classification, tumor differentiation, pretreatment depth of invasion by primary tumor, pretreatment lymph node stage, pretreatment clinical stage, mismatch repair protein status, number of preoperative treatment cycles, or duration of preoperative treatment (all P>0.05). The primary outcome measure was postoperative lymph node downstaging. Secondary outcomes included postoperative depth of invasion by tumor, number of lymph nodes examined, and factors affecting residual lymph node metastasis status. Results:Lymph node downstaging was achieved significantly more often in the Immunotherapy group than the Chemotherapy group (pN0: 90.9% [20/22] vs. 61.1% [22/36]; pN1: 4.5% [1/22] vs. 36.1% [13/36]; pN2: 4.5% [1/22) vs. 0; pN3: 0 vs. 2.8% [1/36], Z=-2.315, P=0.021). There were no significant difference between the two groups in number of lymph nodes examined (40.5±16.3 vs. 40.8±17.5, t=0.076, P=0.940) or postoperative depth of invasion by primary tumor (pT1a: 50.0% [11/22] vs. 30.6% [11/36]; pT1b: 13.6% [3/22] vs. 19.4% [7/36]; pT2: 13.6% [3/22] vs. 13.9% [5/36]; pT3: 13.6% [3/22] vs. 25.0% [9/36]; pT4a: 9.1% [2/22] vs. 11.1% [4/36], Z=-1.331, P=0.183). Univariate analysis revealed that both preoperative treatment regimens were associated with residual lymph node metastasis status in patients whose primary tumor regression was TRG1 (χ 2=6.070, P=0.014). Multivariate analysis incorporated the following factors: pretreatment depth of invasion by primary tumor, pretreatment lymph node stage, pretreatment clinical stage, number of preoperative treatment cycles, and preoperative treatment duration. We found that a combination of immunotherapy and chemotherapy administered preoperatively was an independent protective factor for reducing residual lymph node metastases in study patients whose primary tumor regression was TRG1 (OR=0.147, 95%CI: 0.026–0.828, P=0.030). Conclusion:Compared with preoperative chemotherapy alone, a combination of preoperative immunotherapy and chemotherapy achieved greater reduction of residual lymph node metastases in the study patients who achieved TRG1 tumor regression in their primary lesions.

Objective:To investigate the effect of immune checkpoint inhibitors on reducing residual lymph node metastasis in patients with gastric cancer.Methods:The cohort of this retrospective study comprised patients from Nanfang Hospital of Southern Medical University and the First Affiliated Hospital of Xiamen University who had undergone systemic treatment prior to gastrectomy with D2 lymphadenectomy and had achieved Grade 1 primary tumor regression (TRG1) from January 2014 to December 2023. After exclusion of patients who had undergone preoperative radiotherapy, data of 58 patients (Nanfang Hospital: 46; First Affiliated Hospital of Xiamen University: 12) were analyzed. These patients were allocated to preoperative chemotherapy (Chemotherapy group, N=36 cases) and preoperative immunotherapy plus chemotherapy groups (Immunotherapy group, N=22 cases). There were no significant differences between these groups in sex, age, body mass index, diabetes, tumor location, pathological type, Lauren classification, tumor differentiation, pretreatment depth of invasion by primary tumor, pretreatment lymph node stage, pretreatment clinical stage, mismatch repair protein status, number of preoperative treatment cycles, or duration of preoperative treatment (all P>0.05). The primary outcome measure was postoperative lymph node downstaging. Secondary outcomes included postoperative depth of invasion by tumor, number of lymph nodes examined, and factors affecting residual lymph node metastasis status. Results:Lymph node downstaging was achieved significantly more often in the Immunotherapy group than the Chemotherapy group (pN0: 90.9% [20/22] vs. 61.1% [22/36]; pN1: 4.5% [1/22] vs. 36.1% [13/36]; pN2: 4.5% [1/22) vs. 0; pN3: 0 vs. 2.8% [1/36], Z=-2.315, P=0.021). There were no significant difference between the two groups in number of lymph nodes examined (40.5±16.3 vs. 40.8±17.5, t=0.076, P=0.940) or postoperative depth of invasion by primary tumor (pT1a: 50.0% [11/22] vs. 30.6% [11/36]; pT1b: 13.6% [3/22] vs. 19.4% [7/36]; pT2: 13.6% [3/22] vs. 13.9% [5/36]; pT3: 13.6% [3/22] vs. 25.0% [9/36]; pT4a: 9.1% [2/22] vs. 11.1% [4/36], Z=-1.331, P=0.183). Univariate analysis revealed that both preoperative treatment regimens were associated with residual lymph node metastasis status in patients whose primary tumor regression was TRG1 (χ 2=6.070, P=0.014). Multivariate analysis incorporated the following factors: pretreatment depth of invasion by primary tumor, pretreatment lymph node stage, pretreatment clinical stage, number of preoperative treatment cycles, and preoperative treatment duration. We found that a combination of immunotherapy and chemotherapy administered preoperatively was an independent protective factor for reducing residual lymph node metastases in study patients whose primary tumor regression was TRG1 (OR=0.147, 95%CI: 0.026–0.828, P=0.030). Conclusion:Compared with preoperative chemotherapy alone, a combination of preoperative immunotherapy and chemotherapy achieved greater reduction of residual lymph node metastases in the study patients who achieved TRG1 tumor regression in their primary lesions.

Objective:To explore the values of CTP score, MELD score, MELD-Na score, ALBI score and neutrophil-lymphocyte ratio (NLR) in predicting the short/long-term prognoses of patients with end-stage liver disease (ESLD) after liver transplantation (LT).Methods:From August 2015 to February 2017, basic preoperative profiles and survival status were retrospectively reviewed for 125 ESLD patients undergoing orthotopic LT.Receiver operating characteristic (ROC) curve was utilized for evaluating the capability of five scores for predicting short-term (3 months post-operation) and long-term (5 years post-operation) prognoses.Cut-off value was determined according to the Jordan index and Kaplan-Meier survival curve plotted.The difference in survival rate between upper and lower cut-off values was analyzed by Log-rank test.Results:Five-year survival rate post-LT was 69.6%(87/125), case fatality rate 30.4%(38/125) and case fatality rate within 3 months post-operation 12.8%(16/125). The AUROC values of CTP score, MELD score, MELD-Na score, ALBI score and NLR for short-term prognosis were 0.787, 0.767, 0.875, 0.801 and 0.837 and AUROC values for predicting long-term prognosis 0.744, 0.744, 0.817, 0.778 and 0.815 respectively.De Long test indicated that the capabilities of MELD-Na score for predicting short-term prognosis varied significantly from that of another four models ( P<0.05). No significant difference existed in capability of predicting long-term prognosis ( P>0.05). The cut-off values of MELD and MELD-Na scores at Month 3/60 post-LT were 20.09 vs.16.44 and 23.63 vs.17.79.The survival rates of upper and lower groups distinguished by cut-off values were 90.9% vs.50.0%, 86.5% vs.45.1% and 99.3% vs.55.6%, 93.9% vs.42.4% respectively.The differences were statistically significant ( P<0.05). Conclusions:Predictive value of MELD-Na score for short-term prognosis of LT is superior to than that of CTP, MELD score, ALBI score or NLR.However, it offers no significant superiority in predicting long-term prognoses.With a rising preoperative MELD/MELD-Na score, postoperative mortality spikes.

  Objective  To evaluate the clinical and paraclinical features of Chinese patients with anti- LGI1 encephalitis.  Methods  Patients with memory deficits, psychiatric symptoms, seizures or altered level of consciousness, suspicious of encephalitis, at presentation to Peking Union Medical College Hospital were recruited between July 2013 and January 2018, and tested for anti-LGI1 antibodies in their serum and/or cerebrospinal fluid(CSF) samples. Patients with anti-LGI1 antibodies were enrolled. The demographic characteristics, clinical manifestations, laboratory examination results, neuroimaging features, immunotherapy, follow-up practices and outcomes for included patients were registered and analyzed.  Results  The study enrolled 120 patients, of whom 66.7% were male. The median age was 61 years (interquartile range [IQR]: 49-66 years). Seizures(65.0%) were the most common initial symptoms. Most patients developed seizures (95.0%), including faciobrachial dystonic seizures (54.2%), memory deficits (92.5%), and psychiatric symptoms (69.1%). Brain MRI and ¹⁸F-FDG PET / CT showed that the lesions were mainly located in unilateral or bilateral medial temporal lobes, and (or) basal ganglia. Of the patients, 95.0% received intravenous immunoglobulin (IVIg) or corticosteroids, 47.5% received mycophenolate mofetil as long-term immunotherapy, and no one received second-line immunotherapy. The median follow-up was 34.2 months(IQR: 22.0-45.6 months). 91.2% had a good outcome (modified Rankin Scale score≤2 points). Residual mild memory deficits were present in 47.8% of the patients. Nine deaths were documented. Relapses occurred in 24.8% of the patients in the first year. In total, 24 (20%)cases were young patients(onset age ≤45 years).There were fewer males among the younger patients(37.5% vs. 74.0%, P < 0.01). Besides, there were fewer younger patients with psychiatric symptoms(50.0% vs. 74.0%, P=0.02), hyponatremia(33.3% vs. 68.8%, P < 0.01), and abnormalities on brain ¹⁸F-FDG PET/CT(20.8% vs. 47.9%, P=0.02). The relapse-free survival rate was significantly higher in the young patients.  Conclusions  Elderly males were predominant in patients with anti-LGI1 encephalitis. Most patients developed symptoms of limbic encephalitis and/or FDBS during the disease course. Several patients were young adults and lacked typical symptoms. Neuroimaging features were consistent with the involvement of limbic system or basal ganglia. Patients with anti-LGI1 encephalitis respond well to immunotherapy, irrespective of the age.

metastatic breast cancer , and analyze the correlation between illness uncertainty and coping style . Methods A total of 98 patients with recurrent or metastatic breast cancer were investigated using Chinese version of Mishel′s uncertainty in illness scale ( MUIS ) and medical coping mode questionnaire ( MCMQ ) . Results The average score of illness uncertainty in patients with recurrent or metastatic breast cancer was (62.50 ±10.89), and the level of illness uncertainty was intermediate .The score of coping style in patients with recurrent or metastatic breast cancer were higher than domestic norm .The scores of avoidance in coping style between two groups was significantly different (P<0.01).Partial correlation analysis indicated that the total score of illness uncertainty was negatively correlated with avoidance in coping style (P<0.05), positively correlated with resignation in coping style (P<0.01) and not correlated with confrontation in coping style (P>0.05).Conclusions Coping style of patients with recurrent or metastatic breast cancer is correlated with their illness uncertainty .Nurses should evaluate illness uncertainty in patients with recurrent or metastatic breast cancer and help them to take effective coping style so as to decrease illness uncertainty and improve therapeutic adherence and confidence in these patients .

Mesenchymal stem cells (MSCs) are a group of stem cells derived from mesodermal mesenchyme.They can be recovered from a variety of tissues,including bone marrow,umbilical cord tissue,umbilical cord blood,peripheral blood,and adipose tissue.Under given conditions,MSCs can differentiate into bone,fat,nerve cells,bepatocytes,and many other cells.Thus,MSCs can be used as a new treatment to substitute for organ transplantation.In recent years,the incidence of end-stage liver disease has been increasing and liver disease has become one of the major diseases affecting human health.Donor scarcity and immunological rejection limit the clinical application of liver transplantation.Numerous studies have confirmed the therapeutic effects of MSCs on hepatic fibrosis,cirrhosis,and other liver diseases,which may be related to the differentiation of MSCs into functional hepatocytes.This paper reviews the capacity,regulation,and molecular mechanism of MSC differentiation,and it discusses the therapeutic effects of different sources of stem cells for liver fibrosis.

ObJective To explore the value of acute physiology and chronic health evaluation Ⅲ(APACHE Ⅲ ) score and the concentration of serum cholinesterase (ChE) in predicting the condition and prognosis of patients with severe acute pancreatitis (SAP) within 24 hours afar hospitalization.Methods Sixty-two SAP patients were enrolled and APACHE Ⅲ score was assessed and the concentration of serum ChE was detected within 24 hours after hospitalization.The correlation between the concentration of serum ChE,APACHE Ⅲ score and the condition and prognosis was analyzed.Results There were 44 survivalcases and 18 dead cases.The APACHE Ⅲ score of the surval patients was significantly lower than that of the dead patients [(52.16 ± 13.76) scores vs.(97.10 ± 15.85) scores] (P＜0.01).The concentration of serum ChE of survival patients was significantly higher than that of the dead patients [ (3685 ± 466) U/L vs.(2109 ± 345) U/L] (P＜ 0.01 ).The higher APACHE Ⅲ score was,the lower the serum ChE concentration was,and the higher the mortality rate was.APACHE Ⅲ score and the concontration of serum ChE both had statistical significances compared with the prognosis in the Logistic regression analysis (P =0.0043,0.0075);APACHE Ⅲ score (95％ CI 1.0306-1.1507),the concentration of serum ChE (95％ CI0.9986-1.0125 ).ROC areas under curve (AUC) of APACHE Ⅲ score,serum ChE concentration with the prognosis were 0.936 and 0.882,respectively.There was no significant difference (P=0.0820).In combined prediction of APACHE Ⅲ score and serum ChE concentration,AUC was 0.952,and its predicting accuracy was higher than either APACHE Ⅲ score or serum ChE concentration (P=0.0016,0.0027).Conclusions APACHE Ⅲ score and the concentration of serum ChE both are significantly correlated with the condition and prognosis of SAP patients.Their combined detection can significantly improve the accuracy of prognosis judgement and provide some clinical guidances for treatment.

Objective Standard neuropsychological assessment plus structural and functional imaging were used in accurate diagnosis of Benson's syndrome (posterior cortical atrophy).Method Serial neuropsychological screening and integrative assessments of visual spatial function, 3D structural MRIimaging and functional FDG-PET imaging were used in two cases of Benson' s syndrome.Results The clinical signs were agnosia, optic ataxia, apraxia, alexia, agraphia and prosopagnosia.MRI imaging revealed bilateral parietal and occipital lobe atrophy.FDG-PET imaging revealed low metabolism in the posterior cortex.The agraphia was constructive: the words were correct but written in the wrong location.Conclusion Standard neuropsychological assessments can recognize the disease nature.When combined with the structural and functional imaging, a correct diagnosis of Benson's syndrome can be made.

ve value and 68.0% total coincidence rate. Conclusion The PCR developed in this study is found to be a rapid and reliable method for the detection of adenoviruses in infant diarrheal stools samples.