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Introduction: Haploinsufficiency of A20 (HA20) is a novel genetic disease presented by Zhou et al in 2016. A20 is a protein encoded by TNFAIP3. Loss-of-function mutation in TNFAIP3 will trigger a new autoinflammatory disease: HA20. HA20-affected patients may develop a wide range of clinical manifestations, such as Behcet disease, rheumatoid arthritis, rheumatic fever, juvenile idiopathic arthritis, and systemic lupus erythematosus. HA20 is rarely reported, thus remaining far from thoroughly understood. Sixty-one cases of HA20 have been reported worldwide, among which 29 cases were diagnosed with Behcet disease ultimately. Moreover, 3 cases have been reported in China, which was the first report of HA20 characterized by Behcet disease. A comprehensive understanding of the pathogenic genes of HA20 could help us apply targeted therapy as soon as possible to improve patients’ survival rates. Patient concerns: A 2-year-old 3-month-old child was presented to our hospital with recurrent infectious enteritis and stomatitis. Diagnosis: Genetic mutations were detected immediately, and a novel pathogenic mutation was found in TNFAIP3. A heterozygous mutation (c.436-437deTC) located at TNFAIP3 was confirmed. The present research indicated that the TNFAIP3 mutation of c.436-437deTC (p.L147Qfs∗7) accounted for familial Behcet-like autoinflammatory syndrome in the child suffering from HA20, while no variation in this locus was found in her parents. Interventions: Symptomatic treatments including oral administration of prednisone (12.5 mg/d) and iron supplement were performed, and repeated infection was no longer observed in the child. Pain and activity limitation was found in the knee joints. The treatment regimen was adjusted to oral prednisone (12.5 mg/dose, 2 doses/d) and subcutaneous injection of rhTNFR:Fc (12.5 mg/week). Outcomes: At the last follow-up, the limbs’ activities were normal, the inflammatory indicators were reduced or within the normal range. The prednisone dose was reduced to 7.5 mg/d, while the dose of rhTNFR:Fc was not changed. Conclusion: We have identified a novel pathogenic HA20 mutation. In this article, 1 case was analyzed in-depth in terms of clinical manifestations of the patient and new sources of such a novel disease, which might improve our understanding of this disease.

Background: Alzheimer's disease (AD) is an age-related neurodegenerative disease that is slowly becoming a global problem. Salvia miltiorrhiza (SM) has a history of thousands of years of use in China. In recent years, SM has been reported to have the effect of improving Alzheimer's disease. However, there is no systematic review of its efficacy and safety yet. Therefore, we propose a systematic review to evaluate the efficacy and safety of SM for AD patients. Methods: Six databases will be searched: China National Knowledge Infrastructure (CNKI), China Biological Medicine (CBM), China Scientific Journals Database (CSJD), Wanfang database, PubMed, and EMBASE. The information is searched from January 2010 to July 2020. Languages are limited to English and Chinese. The primary outcomes include changes in the Mini-Mental State Examination (MMSE), Alzheimer's Disease Assessment Scale-cognitive subscale (ADAS-Cog) and Activities of Daily Living scale (ADL). Additional outcomes include clinical effective rate and adverse event rate. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) system will be used to assess the strength of the evidence. Results: This systematic review will evaluate the efficacy and safety of SM in the treatment of Alzheimer's disease. Conclusion: This systematic review provides evidence as to whether SM is effective and safe for Alzheimer's disease patients. Systematic review registration: INPLASY202070066.

Rationale: The benefits of prolonged endotracheal intubation (ETI) in comparison to early tracheotomy is still over the controversy. Little information is available in concern to prolonged ETI more than years. We report the consequence of oral ETI in a 95-year old man for 839 days. Patient concerns: This patient was transferred to the intensive care unit due to sputum asphyxia and respiratory arrest. Timely ETI was performed. However, as a neurological insult, extubation had a high risk of failure due to the insufficient ability of sputum clearance. In addition, his family members refused further surgical interventions including tracheotomy. Diagnoses: Prolonged ETI occurred in this patient. On day 240 and 329 after ETI, 3D airway image did not reveal laryngeal stenosis or laryngeal lesions. On day 459 and 662, ET tube (ETT) exchanged was performed and the balloon became stiff and inelasticity. Interventions: Although a possible tracheoesophageal fistula was suspected by imaging findings on day 547, the gastroscopy did not reveal the fistula on the esophagus. Enteral nutrition was delivered through the gastric tube, while the mediastinal infection was not observed during subsequent follow-up of computed tomography. Outcomes: He received tracheostomy due to acute sputum obstruction within ETT and abrupt oxygen desaturation on day 839. Lessons: During prolonged ETI, more attention should focus on airway humidification, proper cuff pressure and optimal time for tube exchange in order to avoid severe complications.

Background: Depression is a common affective disorder characterized by marked and lasting melancholia, with corresponding thought and behavior changes. Due to an accelerated pace of life and increased work pressure, the incidence of depression has risen sharply, causing great harm to family and social life. Jiaotai pill (JTP) is a Chinese herbal formula that is commonly prescribed for depression and insomnia in clinical treatment, and exhibits antidepressant effects as shown in animal experimental research. However, there are no standard clinical trials to confirm its efficacy in treating depression. Objective: This study aims to assess the efficacy and safety of JTP in the treatment of depression, so as to tap the clinical efficacy advantages of JTP and provide data support for its clinical application. Methods: A randomized, multicenter clinical trial with parallel groups was designed in this study. A total of 40 patients with depression were included and randomly divided to either the treatment or the control group with a ratio of 1:1. The patients received JTP plus fluoxetine or fluoxetine alone once per day for 8 weeks. The primary outcome included the Hamilton Depression Rating Scale score for patients and brain structure and function by functional magnetic resonance imaging. The secondary outcomes included Traditional Chinese medicine syndrome integral scale scores, Wisconsin Card Sorting Test, blood metabonomics, urine metabonomics. Conclusion: The results of this trial will find changes in brain structure, brain function, and metabolism in patients with depression, and provide critical evidence for JTP in the treatment of depression.

Supplemental Digital Content is available in the text, Background: Enteral nutrition via gastric tube insertion is a routine clinical practice for critically ill patients, although complications due to blind manipulation are occasionally reported. Methods: An 8.4Fr deflection flexible ureteroscope was delivered into a 15Fr conventional gastric tube to create a gastric visual guidance system. Twenty inexperienced physicians were randomly assigned to perform 5 repeated orogastric tube placements in a manikin using both the conventional method and the deflection visual gastric tube, for a total of 10 procedures per physician. Placement time, procedure-related complications, and participants’ experience with both methods were recorded. Results: Under real-time guidance, the visual gastric tube successfully reached the stomach. The procedure provided additional information on the anatomy of the esophagus and stomach. Placement time was significantly less in the visual group than in the conventional group (39.39 ± 2.11 seconds vs 49.82 ± 3.11 seconds; P

Rationale: Critical care ultrasound identifies the signs of free intraperitoneal air and echogenic free fluid always indicates hollow viscus perforation (HVP) and needs immediate surgical interventions. However, in rare cases, these classic signs may also mislead proper clinical decisions. We report perforated viscus associated large peritoneal effusion with initial critical care ultrasound findings, whereas computed tomography (CT) examination confirmed a giant stomach due to superior mesenteric artery syndrome (SMAS). Patient concerns: A 70-year-old man was admitted to our emergency department with a complaint of recurrent vomiting with coffee ground emesis for 15 hours and worsen with hypotension for 6 hours. During gastric tube placement, the sudden cardiac arrest occurred. With 22 minutes resuscitation, sinus rhythm was restored. Diagnoses: Quick ultrasound screen showed large echogenic fluid distributed in the whole abdomen. Diagnostic paracentesis collected “unclotted blood” and combined with a past history of duodenal ulcer, HVP was highly suspected. However, surgical intervention was not performed immediately as unstable vital signs and unfavorable coma states. After adequate resuscitation in intensive care unit, the patient was transferred to perform enhanced CT. Surprisingly, there was no evidence of HVP. Instead, CT showed a giant stomach possibly explained by SMAS. Interventions: Continuous gastric decompression was performed and 3100 mL coffee ground content was drainage within 24 hours of admission. Outcomes: Abdominal distension was significantly relieved with improved vital signs. However, as the poor neurological outcome, family members abandon further treatment, and the patient died. Lessons: SMAS is a rare disorder, characterized by small bowel obstruction and severe gastric distension. Nasogastric tube insertion should be aware to protect airway against aspiration. Caution should be utilized to avoid over interpretation of ultrasonography findings on this condition.

Supplemental Digital Content is available in the text, A positive family history is recognized as an important risk factor for type 2 diabetes mellitus (T2DM), but the association of family history with rennin-angiotensin system (RAS) gene polymorphisms has not been reported yet, thus we aim to investigate it. Family history records, clinical and biochemical data were obtained from 1239 T2DM patients. Polymerase chain reaction (PCR) was performed for angiotensin-converting enzyme (ACE) genotyping and PCR-restricted fragment length polymorphism was used for angiotensinogen (AGT) genotyping. Patients with a negative family history had higher level of triglyceride and blood pressure, whereas those with a positive family history showed younger onset age and lower body mass index value (All P

Supplemental Digital Content is available in the text, Pleural effusion (PE) is a common clinical complication of many pulmonary and systemic diseases, including lung cancer and tuberculosis. Nevertheless, there is no clinical effective biomarker to identify the cause of PE. We attempted to investigate differential expressed exosomal miRNAs in PEs of lung adenocarcinoma (APE), tuberculous (TPE), and other benign lesions (NPE) by using deep sequencing and quantitative polymerase chain reaction (qRT-PCR). As a result, 171 differentiated miRNAs were observed in 3 groups of PEs, and 11 significantly differentiated exosomal miRNAs were validated by qRT-PCR. We identified 9 miRNAs, including miR-205-5p, miR-483-5p, miR-375, miR-200c-3p, miR-429, miR-200b-3p, miR-200a-3p, miR-203a-3p, and miR-141-3p which were preferentially represented in exosomes derived from APE when compared with TPE or NPE, while 3 miRNAs, including miR-148a-3p, miR-451a, and miR-150-5p, were differentially expressed between TPE and NPE. These different miRNAs profiles may hold promise as biomarkers for differential diagnosis of PEs with more validation based on larger cohorts.

Background and objective: Colonoscopy is the most important method for the diagnosis and treatment of intestinal diseases, and there are many factors affecting the quality of examination. Although the assistant is one of the factors influencing the quality of colonoscopy, there are few studies on the effect of different assistants with different experiences on the quality of colonoscopy. Therefore, the study was aimed to research the correlation between different assistants with different experiences and the quality of water-injection colonoscopy. Method: In this study, a single-center randomized controlled trial was conducted to analyze the key quality indicators (the rate to arrive cecum, time to arrive cecum, total operation time, detection rate of polyps, detection rate of adenoma, pain score, operation satisfaction, and the pressure on abdomen) of patients who underwent water-injection colonoscopy under non-sedation from January 2018 to June 2018 in the center. Patients were randomly assigned to different assistant groups based on the actual working period of 6 months (0∼6 months inexperienced assistant group and assistant group with more than 6 months of experience). Through fitting the bivariate and multivariate logistic regression models, the differences between the two groups and the effects on the key quality indicators of colon examination were analyzed. Results: A total of 331 patients who were eligible for non-sedation colonoscopy were randomly assigned to the experienced assistant group (n = 179) and the inexperienced assistant group (n = 152). Among them, 103 cases of polyp and 70 cases of adenoma were detected. The rate to arrive cecum, polyp detection rate and adenoma detection rate were compared between the two groups during operation (P > 0.05). However, there were significant differences in the time to arrive cecum, patients’ satisfaction with operation, pain score and abdominal pressure (P

Rationale: Isolated pulmonary Langerhans cell histiocytosis (PLCH) is rare in adults. The gold standard diagnosis requires surgical lung biopsy. However, few cases have been diagnosed with transbronchial cryobiopsy (TBCB) sampling in the early stages of the disease, particularly in China. Presenting concerns: A 50-year-old man was referred for dry cough and exertional dyspnea of more than 1 week. High-resolution computed tomography (HRCT) of the chest revealed symmetric nodules and cyst lesions with upper lobe infiltrate. Further history taking indicated that he had smoked 20 cigarettes per day for more than 30 years. Therefore, PLCH was highly suspected. However, he refused surgical lung biopsy, and TBCB was attempted to complete diagnosis. Diagnosis: Emission computed tomography excluded the possibility of extrapulmonary involvements, and pathological findings supported the diagnosis of isolated PLCH. Interventions: Smoking cessation and prednisone treatment were used for patient management. Outcomes: The symptoms receded with significant improvement of chest HRCT during 2-months of follow-up. Lessons: Early diagnosis contributes to the prognosis of isolated PLCH in adults, and TBCB may be an alternative to conventional surgical lung biopsy for pathological diagnosis of PLCH.

Rationale:Acute type A aortic dissection (AAAD) remains a life-threatening disease. We previously reported a case with ultrasound findings of a homogeneous hemopericardium and evidence highly indicative of hemorrhagic cardiac tamponade complicated by AAAD. Here, we report a similar case who

Rationale Critical care ultrasound identifies the signs of free intraperitoneal air and echogenic free fluid always indicates hollow viscus perforation (HVP) and needs immediate surgical interventions. However, in rare cases, these classic signs may also mislead proper clinical decisions. We report perforated viscus associated large peritoneal effusion with initial critical care ultrasound findings, whereas computed tomography (CT) examination confirmed a giant stomach due to superior mesenteric artery syndrome (SMAS). Patient concerns A 70-year-old man was admitted to our emergency department with a complaint of recurrent vomiting with coffee ground emesis for 15 hours and worsen with hypotension for 6 hours. During gastric tube placement, the sudden cardiac arrest occurred. With 22 minutes resuscitation, sinus rhythm was restored. Diagnoses Quick ultrasound screen showed large echogenic fluid distributed in the whole abdomen. Diagnostic paracentesis collected "unclotted blood" and combined with a past history of duodenal ulcer, HVP was highly suspected. However, surgical intervention was not performed immediately as unstable vital signs and unfavorable coma states. After adequate resuscitation in intensive care unit, the patient was transferred to perform enhanced CT. Surprisingly, there was no evidence of HVP. Instead, CT showed a giant stomach possibly explained by SMAS. Interventions Continuous gastric decompression was performed and 3100 mL coffee ground content was drainage within 24 hours of admission. Outcomes Abdominal distension was significantly relieved with improved vital signs. However, as the poor neurological outcome, family members abandon further treatment, and the patient died. Lessons SMAS is a rare disorder, characterized by small bowel obstruction and severe gastric distension. Nasogastric tube insertion should be aware to protect airway against aspiration. Caution should be utilized to avoid over interpretation of ultrasonography findings on this condition.

Rationale Acute type A aortic dissection (AAAD) is a potentially fatal clinical crisis. Hemorrhagic cardiac tamponade due to the rupture of an ascending aortic root dissection is extremely dangerous and often lacks timely clinical evidence. We report sudden death in a patient diagnosed with AAAD and in whom critical care ultrasound highly indicated hemorrhagic cardiac tamponade. Presenting concerns A 75-year-old man was admitted to our emergency department with a complaint of chest pain for 8 hours. Computed tomography angiography findings indicated AAAD with a wide range of lesions. During the preoperative preparation process, he suddenly lost consciousness with a pulseless femoral artery.Diagnoses: Cardiopulmonary resuscitation was initiated and critical care ultrasound revealed hemorrhagic cardiac tamponade, strongly indicating the rupture of an ascending aortic root dissection. Interventions However, family members refused further surgical interventions. Outcomes The etiology could not be reversed and the patient died. Lessons Critical care ultrasound is an important skill that intensivists should master for fast screening of life-threatening complications in patients with AAAD.

For patients with acute-on-chronic liver failure (ACLF), artificial liver support system (ALSS) may help prolong lifespan and function as a bridge to liver transplantation (LT), but data on its long-term benefit are lacking. We conducted this prospective, controlled study to determine the efficacy of ALSS and the predictors of mortality in patients with hepatitis B virus (HBV)-associated ACLF. From January 2003 to December 2007, a total of 234 patients with HBV-associated ACLF not eligible for LT were enrolled in our study. They were allocated to receive either plasma exchange centered ALSS plus standard medical therapy (SMT) (ALSS group, n = 104) or SMT alone (control group, n = 130). All the patients were followed-up for at least 5 years, or until death. At 90 days, the survival rate of ALSS group was higher than that of the control group (62/104 [60%] vs 61/130 [47%], respectively; P

Supplemental Digital Content is available in the text, Given the increased burden of end-stage renal disease (ESRD), renal outcomes of kidney donation by living donors are of particular interest. PubMed, ProQuest, MEDLINE, EMBASE, Chinese national knowledge infrastructure, and Wanfang databases were searched for clinical outcomes of living kidney donors (LKDs) including renal death, ESRD, proteinuria/albuminuria, and renal function after donation. We included 62 studies from 19 countries involving 114,783 kidney donors and nondonors to evaluate the renal consequences less than 6 months, 6 months to 5 years, 5 to 10 years, and 10 years onward after donation. The pooled data showed that uninephrectomy significantly decreased glomerular filtration rate and creatinine clearance rate in parallel with increased serum creatinine concentration (all P

Membranous glomerulonephritis (MGN) represents an immunologically mediated disease characterized by deposition of immune complexes in the glomerular subepithelial space. Persistent proteinuria at diagnosis predicts poor prognosis. Pregnancy with MGN is a risk of fetal loss and may worsen maternal renal function. Here, we report a lady with MGN and proteinuria achieved spontaneous remission and successful fetal outcome naive to any medications. The 26-year old woman had 1-year history of persistent proteinuria (5.5–12.56 g/24 hours) and biopsy-proven MGN. Histopathological characteristics included glomerular basement membrane spikes, subepithelial monoclonal IgG immunofluorescence, and diffuse electron dense deposits. She was sticking to a regular morning exercise routine without any medications. After successful delivery of a full-term baby girl, the mother had improved proteinuria (0.56 g/24 hours) and albuminuria (351.96 g/24 hours contrasting 2281.6 g/24 hours before pregnancy). The baby had normal height and body weight at 4 months old. We identified more pregnancies with MGN in 5 case reports and 5 clinical series review articles (7–33 cases included). Spontaneous remission of maternal MGN with good fetal outcome rarely occurred in mothers on immunosuppressive therapy. Mothers naive to immunosuppressive therapy may achieve spontaneous remission of maternal membranous glomerulonephritis and successful fetal outcome. Theoretically, fetus might donate stem cells to heal mother's kidney.

Supplemental Digital Content is available in the text, The artificial liver support system (ALSS) offers the potential to improve the prognosis of patients with acute-on-chronic liver failure (ACLF). However, the literature has been inconsistent on its survival benefits. We aimed to conduct a time series-based meta-analysis of randomized clinical trials (RCTs) and observational studies which examined differences in mortality in ACLF patients treated with ALSS or not. MEDLINE, EMBASE, OVID, and COCHRANE library database were systemically searched up to December 2014. Quality of included studies was evaluated using the Jadad score. The outcome measure was mortality at different follow-up endpoints. Odds ratios (ORs) and survival curve data were pooled for analysis. Ten studies, 7 RCTs, and 3 controlled cohorts were enrolled, involving a total of 1682 ACLF patients, among whom 842 were treated with ALSS. ALSS was found to reduce the risk of short-term (1-month and 3-month) mortality for patients with ACLF by nearly 30%. Randomized trials and observational studies provided good internal and external validity respectively. The combined Kaplan–Meier curves showed a consistent pattern of findings. Meta-analysis also suggested that ALSS might reduce medium-term (6-month and 1-year) mortality risk by 30% and long-term (3-year) mortality risk by 50% in ACLF patients. ALSS therapy could reduce short-term mortality in patients with ACLF. Meanwhile, its impacts on medium- and long-term survival seem to be promising but remained inconclusive. Clinical utility of this system for survival benefit may be implied.

For patients with acute-on-chronic liver failure (ACLF), artificial liver support system (ALSS) may help prolong lifespan and function as a bridge to liver transplantation (LT), but data on its long-term benefit are lacking. We conducted this prospective, controlled study to determine the efficacy of ALSS and the predictors of mortality in patients with hepatitis B virus (HBV)-associated ACLF.From January 2003 to December 2007, a total of 234 patients with HBV-associated ACLF not eligible for LT were enrolled in our study. They were allocated to receive either plasma exchange centered ALSS plus standard medical therapy (SMT) (ALSS group, n=104) or SMT alone (control group, n=130). All the patients were followed-up for at least 5 years, or until death.At 90 days, the survival rate of ALSS group was higher than that of the control group (62/104 [60%] vs 61/130 [47%], respectively; P