A 57-year-old man was admitted to hospital with diarrhea for 10 months and dizziness for 4 months. The patient had 1-2 liters watery stool per day, without pyogenic blood or abnormality in gastroenteroscopy examination. The level of hemoglobin and albumin was generally normal, and fasting test was positive. At the same time, he was accompanied with hyperalgesia of lower limbs and orthostatic hypotension. After the discussion of multiple disciplinary teams, the patient was diagnosed with amyloidosis by sural nerve biopsy, myocardial MRI, and the assays of urine immunoelectrophoresis and serum free light chain. Light chain amyloidosis was confirmed after excluded the diagnosis of familial amyloidosis. The patient was improved after courses of chemotherapy with melphalan and dexamethasone.

Objective:To identify anti-dipeptidyl-peptidase-like protein 6 (DPPX) antibody in patients with encephalitis of unknown etiology and describe the clinical features of anti-DPPX antibody-associated encephalitis in Chinese patients.Methods:For patients registered in the Peking Union Medical College Hospital Encephalitis and Paraneoplastic Syndrome Registration Project from 2016 to 2019 with negative findings in autoimmune encephalitis routine antibody profile and paraneoplastic antibody profile, but with positive tissue-based assay (TBA) results, further tests for rare antibodies, including cell-based assay (CBA) of anti-DPPX antibody, were performed. Patients positive for anti-DPPX antibody were enrolled and the clinical data were collected.Results:Two patients with anti-DPPX antibody-associated encephalitis were found from 2016 to 2019 among about 15 000 patients. Both were females, aged 46 and 75 years. One patient had diarrhea, cachexia, cognitive dysfunction, agitation, myoclonus, tremor, and seizures. The other had cognitive impairment, restlessness, memory loss, disorientation, and sleep disturbance. The second patient had medical history of systemic lupus erythematosus and secondary Sj?gren′s syndrome.Conclusions:TBA should be combined with CBA in identification of anti-DPPX antibody to confirm the diagnosis. Anti-DPPX antibody-associated encephalitis has clinical manifestations of encephalopathy with diarrhea and cachexia, and can coexist with systemic lupus erythematosus.

Objective To investigate the association between single nucleotide polymorphisms ( SNPs) of FOXO1 gene and type 2 diabetic nephropathy(T2DN). Methods A total of 654 Chinese Han patients with type 2 diabetes mellitus (T2DM;394 without and 260 with T2DN) were enrolled. Six FOXO1 gene tags SNPs were selected using the Hapmap database. The genotypes of six SNPs in FOXO1 were determined by PCR-RFLP, and the clinical characteristics of the subjects were also evaluated. The interaction of SNPs with these clinical factors was analyzed by multiple factor reduction(MDR) method. Results After adjusting for age, gender, DM course, body mass index ( BMI ) , HbA1C , total cholesterol ( TC ) , triglycerides ( TG ) , high-density lipoprotein-cholesterol ( HDL-C ) , low-density lipoprotein-cholesterol ( LDL-C ) , hypertension history, DM family history, smoking, and drinking, FOXO1 rs17446614 variant genotype was significantly associated with an increased risk of T2DN, while rs17446593 variant genotype was associated with a decreased T2DN risk. In the stratified analysis of risk factors, the correlation between rs17446614 and T2DN was unrelated with patient' s gender, hypertension history, and blood TC level. Simultaneously, rs17446614 variant genotype significantly increased the risk of T2DN in people older than 60 years,BMI less than 24 kg/m2 , LDL-C less than or equal to 3. 5 mmol/L , or DM family history. rs2721068 variant genotype significantly decreased the risk of T2DN in people less than 60 years old or without DM family history. rs2951787 variant genotype significantly increased the risk of T2DN in people with DM duration longer than 10 years or with DM family history. A variant genotype rs17592236 significantly increased the risk of T2DN in male or TC higher than 5 mmol/L. A variant genotype rs17446593 significantly decreased the risk of T2DN in male or those DM duration longer than 10 years, or BMI≥24 kg/m2 . The interactions among rs17446614, DM duration, TC, and hypertension history were also observed. Conclusion The genetic variants rs17446614, rs2721068, rs2951787, rs17592236, and rs17446593 in FoxO1 may contribute to the risk of T2DN in T2DM patients.

Objective To clarify the clinical features of monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL) with minor endoscopic abnormalities. Methods The clinical data of 6 patients with MEITL characterized by minor endoscopic abnormalities in Peking Union Medical College Hospital from 2012 to 2016 were retrospectively analyzed, including clinical manifestations, endoscopic, pathological features, medications and prognosis. Results Five out of 6 patients were male, with an average age of 61.2 years old. The median disease duration was 4.5 months. All patients initially presented with diarrhea without specific findings for serologic testing. CT enterography showed continuous intestinal lesions, including symmetric thickening of the bowel wall, abnormal hyperenhancement of mucosal surface and lymphadenopathy. Endoscopic appearances were only mildly abnormal, including mucosal swelling, atrophy of villus, mosaic sign and shallow ulcers. Histopathologic findings revealed massive small to medium sized T lymphocytes infiltration with positive expression of CD3 and CD8. Chemotherapy and palliative treatment were administrated after diagnosis. Conclusions Clinical presentations of MEITL are non-specific with minor endoscopic abnormalities. Therefore, biopsy is indispensable for patients with a relatively normal endoscopic result.

Objective To reinforce the awareness of colorectal endometriosis (EM) in colonoscopy examination.Methods Patients diagnosed as colorectal EM at Peking Union Medical College Hospital between February 2002 and February 2017 were enrolled in this study.The clinical characteristics and endoscopic features of EM lesions were summarized and compared between pathologically positive group and negative group.Results A total of 34 cases were included with average age of (38.3± 8.9) years old.All EM lesions located within rectum and sigmoid colon.The endoscopic lesions manifested as protrusion in 21 cases (61.8％) and protrusion-depression in 13 cases (38.2％),local stenosis in 8 cases (23.5％);erosive surface in 33 cases (97.1％) with local spontaneous hemorrhage in 4 cases (11.8％);nodal surface in 23 cases (67.6％),and lymphangiectasis base in 9 cases (26.4％).Endoscopic biopsy specimens were obtained in all cases with average 3 (2,4) pieces.Positive results were found only in 4 patients (11.8％) with 3 endometriosis and one (endometrial) adenosarcoma.Compared with negative group,spontaneous hemorrhage was more frequent in positive group (2/4 vs.2/30,P=0.013).Mean biopsy sample number was significantly larger in positive group (5 vs.3,P=0.004).Conclusions Colorectal endometriosis is mostly located within rectosigmoid region.Endoscopic features mainly include protrusion or protrusion-depression lesions with erosive and nodular surface,or local stenosis.Spontaneous hemorrhage under colonoscopy yields higher positive rate for biopsy,thus increasing biopsy sample numbers may improve pathology results.

Objective To detect the sera anti-enteric neuronal antibodies ( AENA ) in irritable bowel syndrome with diarrhea ( IBS-D) patients and analyzed its correlation with IBS-D symptoms to explore the potential roles of AENA in the pathogenesis of IBS.Methods IBS-D patients diagnosed with RomeⅢdiagnostic criteria were en-rolled in this study.The sera of healthy subjects were used as controls.Indirect immunofluorescence ( IIF) was used to detect the sera AENA with the substrate of ileal submucosal plexus of guinea pig .The immune reactivity ( IR) stains were read in blinded method .The bowel symptoms of patients with positive AENA were compared to thatwithnegativeandweeklypositiveantibodies.Results 1)Atotalof127IBS-Dpatientswereenrolledinthis study.The positive rate of sera AENA was 85.8%in IBS-D patients, and 7.0%in healthy controls.Among 109 IBS-D patients with positive IIF reactivity , 23.6%present with strong positive , 43.3% with positive and 18.9%with weakly positive stain .The IR patterns included cytoplasm staining , nucleus staining , cytoplasms and nuclei staining , nuclear membrane staining , cytoplasm and nuclear membrane staining .Six positive sera of healthy control showed cytoplasm staining to substrate neurons .2 ) More patients of IBS-D with positive IR had higher intestinal symptoms scores (>10 scores, 58.8%vs 38.1%), frequent abdominal pain in non-defecation period (91.7%vs 60.0%) , and severe abdominal pain/discomfort before defecation ( 24.7% vs 9.5%) comparing to those with negative and weekly positive IR of AENA;IBS-D patients with positive IR of AENA are more commonly associated with urgency comparing to those with negative IR in IIF (57.1%vs 87.3 ) .Conclusions AENA may play a role in the pathogenesis of IBS , and is a potential biomarker of IBS-D.

Symptoms compatible with irritable bowel syndrome (IBS) such as abdominal pain and diarrhea may co exist in approximately one-third of patients with quiescent inflammatory bowel disease (IBD),so called IBS-like symptoms.These symptoms present as a clinical dilemma for management of IBD and diminish the patients' quality of life remarkably.IBS-like symptoms raise much concern in the research field of IBD in recent years.In this article,the latest research progress focusing on the prevalence,pathogenesis and management of IBS-like symptoms coexisting with quiescent IBD was reviewed.

Objective To analyze symptomatic characteristics and the factors related to severity of irritable bowel syndrome (IBS).Methods Total 516 IBS patients met Rome Ⅲ criteria were enrolled in the study from June 2009 to February 2016.A questionnaire survey was conducted in face-to-face manner,including intestinal and extra-intestinal symptoms,sleeping and psychological status.Severity of IBS was determined by symptom scores.Results Among 516 patients,there were 135 cases with mild symptoms (26.2％),267 with moderate symptoms (51.7％) and 114 with severe symptoms (22.1％).Periumbilical pain/discomfort associated with defecation was a common symptom location (34.6％,178/516),however,53.3％ (275/516) patients also reported having abdominal pain/discomfort during non-defecation period.In IBS patients,51.2％ (264/516) were coexisted with gastroesophageal reflux disease (GERD),59.1％ (305/516) with functional dyspepsia (FD),and 46.9％ (242/516) with depression.The prevalence of ordinary abdominal pain/discomfort [57.0％ (217/381) vs.43.0％ (58/135),x2 =7.841],sensation of incomplete defecation[74.5％ (284/381)vs.61.5％ (83/135),x2 =8.277] and coexisted GERD[54.1％ (206/381) vs.43.0％(58/135),x2 =4.920],FD[64.0％(244/381)vs.45.2％ (61/135),x2 =14.664],headache[50.7％ (193/381)vs.38.5％ (52/135),x2 =5.889] and depression[52.2％ (199/ 381)vs.31.9％ (43/135),x2 =16.623] in patients with moderate to severe symptoms were significantly higher than that in patients with mild symptoms (all P ＜ 0.05).The predictors to moderate-severe IBS symptoms were coexisted FD (OR =1.798,95％ CI:1.162-2.783,P =0.010) and depression (OR =1.696,95％ CI:1.043-2.759,P =0.014).Conclusion The symptoms of IBS patients are various,and patients coexisted with FD and depression are more likely to have more severe symptoms.

Objective To clarify the efficacy and safety of cyclosporine A CsA) as salvage therapy in patients with severe active ulcerative colitis (UC) and refractory to steroids.Methods A total of 24 severe active UC patients refractory to steroids and hospitalized from 2006 to 2012,were retrospectively enrolled.Data including demographic features,clinical manifestations,laboratory tests and medications were collected.Results CsA was effective in 15 (62.5％) patients,who did not receive colectomy during 12-week administration.This regimen was tolerable in most patients.Twelve (50.0％) patients reported 16 adverse events,but only one patient withdrew CsA due to intolerance.The rates of adverse events in initial intravenous CsA including 4 mg · kg-1 · d-1,3 mg · kg-1 · d-1 and 2 mg· kg-1 · d-1 were 2/2,9/17 and 1/5 respectively.Responders had higher white blood cell count compared with non-responders (P =0.045).Conclusions CsA could be an effective alternative regimen to colectomy in severe active UC patients who are refractory to steroids.