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Introduction Correctly identifying patients with biliary atresia (BA), while avoiding invasive diagnostic methods is challenging. The purpose of this study was to determine the value of serum immune indicators for distinguishing BA from other causes of cholestasis in infants. Patients and methods The data of infants with a surgical/histological diagnosis of BA and those with other causes of cholestatic jaundice were retrospectively analyzed. Patients were divided into a BA group and a cholestasis control (CC) group. Biochemical parameters, major lymphocyte subsets, immunoglobin and C3 and C4 complement levels were compared between the groups. Results A total of 129 infants with BA and 63 with other causes of cholestasis (CC control group) with a median age of 2.2 months were included in the analysis. The levels of CD3+ T cells, CD3+CD4+ T cells, and premature T cells and the levels of C3 and C4 were all significantly higher in the BA group compared to the CC group (all P Conclusions Models incorporating serum C3 levels may be useful for accurately diagnosing BA in infants.

BACKGROUND Diffuse large B-cell lymphoma (DLBCL) is a common non-Hodgkin's lymphoma. R-CHOP is a protocol for long-term chemotherapy for DLBCL patients. Long-term chemotherapy can lead to low immunity and increase the risk of opportunistic pathogen infections in immunocompromised patients. CASE SUMMARY We report a case of coinfection with Pneumocystis jirovecii (P. jirovecii) and Legionella pneumophila (L. pneumophila) in a patient with DLBCL. The patient was a 40-year-old female who was diagnosed with DLBCL and was admitted due to pulmonary infection. P. jirovecii and L. pneumophila were detected in her bronchoalveolar lavage fluid by hexamine silver staining, isothermal amplification and metagenomic sequencing. CONCLUSION To the best of our knowledge, this is the first case of P. jirovecii and L. pneumophila coinfection found in a DLBCL patient. Clinicians should be aware of the risk of complicated infection in patients undergoing long-term chemotherapy.

Background Inborn error of bile acid synthesis type 4 is a peroxisomal disease with impaired bile acid synthesis caused by a-methylacyl-CoA racemase (AMACR) gene mutation. The disease is usually found in children with mild to severe liver disease, cholestasis and poor fat-soluble vitamin absorption. At present, there is no report of inborn errors of bile acid synthesis type 4 in adults with liver disease and poor fat-soluble vitamin absorption. Case summary A 71-year-old man was hospitalized in our department for recurrent liver dysfunction. The clinical manifestations were chronic liver disease and yellow skin and sclera. Serum transaminase, bilirubin and bile acid were abnormally increased; and fat-soluble vitamins decreased. Liver cirrhosis and ascites were diagnosed by computed tomography. The patient had poor coagulation function and ascites and did not undergo liver puncture. Genetic testing showed AMACR gene missense mutation. The patient was diagnosed with inborn error of bile acid synthesis type 4. He was treated with ursodeoxycholic acid, liver protection and vitamin supplementation, and jaundice of the skin and sclera was reduced. The indicators of liver function and the quality of life were significantly improved. Conclusion When adults have recurrent liver function abnormalities, physicians should be alert to genetic diseases and provide timely treatment.

Nontuberculous mycobacteria infections present mostly pulmonary characteristics. However, the incidence of skin and soft tissue infections caused by nontuberculous mycobacteria has increased in part due to the increased popularity of cosmetic and plastic surgery. Here, we report a case of Mycobacterium agri infection. The patient underwent a one-year course of anti-infection therapy. To the best of our knowledge, this is the first report of a previously healthy patient presenting a skin and soft tissue infection caused by Mycobacterium agri. Clinical personnel should be aware of possible causes of persistent skin and soft tissue infection after cosmetic and plastic surgery.

To explore the optimal methods for the protoplast preparation and regeneration of Hirsutella sinensis by optimizing the limiting factors. During the treatment of enzymatic protoplast preparation, mycelium cultured for 7 days was the optimal start material. The maximum protoplast preparation rate of 4.3 × 107 protoplasts/g fresh weight (FW) was obtained after 0.5 h treatment of 1 mg/ml mixed lytic enzymes in KH2PO4-K2HPO4 buffer (pH 5.5) with 0.6 M KCl at 18 °C. As for the protoplast regeneration, the maximum protoplast regeneration rate reached 12.32% through 5 × 103 protoplasts mL−1 cultivated for 20 days in the regeneration medium with 0.6 M mannitol and 1.5% agar. The preparation and regeneration of H. sinensis protoplasts was firstly established based on process optimization and it provided a foundation for the study of H. sinensis mutagenesis.

This study aimed to determine whether the challenge from Escherichia coli (E. coli) lipopolysaccharide (LPS) affects the pharmacokinetics of danofloxacin in broilers. Twenty 1-day-old Arbor Acres (AA) broilers were equally and randomly divided into two groups. When the chickens were 23, 25, 27, and 29 days old, E. coli LPS (1 mL; 0.5 mg/kg body weight (BW)) and sterile saline (1 mL) were intraperitoneally injected into the two groups. After the last injection, danofloxacin was given to all chickens by gavage at the dose of 5 mg/kg BW. Then serum and plasma samples at each time point were collected through the wing vein. Danofloxacin concentrations in plasma were detected through the high-performance liquid chromatography (HPLC) method and subjected to non-compartmental analysis using Phoenix software. The levels of chicken interleukin-1β (IL-1β) and corticosterone (CORT) in serum were measured by the Enzyme-linked immunosorbent assay (ELISA) kit. In addition, after the collection of plasma or serum samples, seven chickens (31 days of age) in each group were killed to calculate the organ indices. Compared with the control group, the challenge of LPS significantly decreased the parameters of AUC0-∞, Cmax, and t1/2λz and increased the parameters of Tmax and λz. Additionally, in the LPS group, the absorption time of danofloxacin was prolonged; however, the elimination was accelerated, which resulted in reduced internal exposure.

Background: In this study, a prognostic model based on pyroptosis-related genes was established to predict overall survival (OS) in patients with hepatocellular carcinoma(HCC).Methods: The gene expression data and clinical information of HCC patients were acquired from The Cancer Genome Atlas (TCGA). Using bioinformatics analysis, this predictive signature was constructed and validated. The performance of predictive signature was assessed by the receiver operating characteristic (ROC) curve and the area under the ROC curve (AUC). Results: A total of 3 pyroptosis-related genes (BAK1, GSDME, and NOD2) were used to construct a survival prognostic model, and experimental validation performed using an experimental cohort. The prognosis model exhibited good performance based on the AUC (AUC: 0.826 at 1 years, 0.796 at 3 years, 0.867 at 5 years). The calibration plots showed excellent calibration.Conclusion: In this study, a novel prognostic model based on three pyroptosis-related genes is constructed and used to predict the prognosis of HCC patients. The model can accurately and conveniently predict the 1- 3-and 5-year OS of HCC patients.

Background Extrahepatic portal vein obstruction (EHPVO) is the most important cause of hematemesis in children. Intrahepatic left portal vein and superior mesenteric vein anastomosis, also known as meso-Rex bypass (MRB), is becoming the gold standard treatment for EHPVO. We analyzed the value of preoperative computed tomography (CT) in determining whether MRB is feasible in children with EHPVO. Results We retrieved data on 76 children with EHPVO (50 male, 26 female; median age, 5.9 years) who underwent MRB (n = 68) or the Warren procedure (n = 8) from 2013 to 2019 and retrospectively analyzed their clinical and CT characteristics. The Rex recess was categorized into four subtypes (types 1–4) depending on its diameter in CT images. Of all 76 children, 7.9% had a history of umbilical catheterization and 1.3% had leukemia. Sixteen patients (20 lesions) had associated malformations. A total of 72.4% of Rex recesses could be measured by CT, and their mean diameter was 3.5 ± 1.8 mm (range 0.6–10.5 mm). A type 1, 2, 3, and 4 Rex recess was present in 9.2%, 53.9%, 11.8%, and 25.0% of patients, respectively. MRB could be performed in patients with types 1, 2, and 3, but those with type 4 required further evaluation. The sensitivity, specificity, positive predictive value, negative predictive value, and diagnostic accuracy of CT were 100%, 83.8%, 42.1%, 100%, and 85.5%, respectively. Conclusions Among the four types of Rex recesses on CT angiography, types 1–3 allow for the performance of MRB.

Background Biliary atresia (BA) is a severe cholangiopathy possibly resulting from virus-induced and immune-mediated injury of the biliary system. IFN-γ, secreted from CD4+ Th1 cells and CD8+ cytotoxic T cells, is a major mediator of liver pathology. Programmed death protein-1 (PD-1) signaling suppresses T cell function. However, how PD-1 modify T cell function in BA remains incompletely understood. Methods Frequencies of PD-1 expressing CD4+ and CD8+ T cells were analyzed in the liver and blood from BA and control subjects. Associations of PD-1+CD4+/CD8+T cell abundances with liver function indices were measured. Function of PD-1 was measured by administration of an anti-PD-1 antibody in a Rhesus Rotavirus (RRV)-induced BA model. Survival, histology, direct bilirubin, liver immune cell subsets and cytokine production were analyzed. Results PD-1 was significantly upregulated in CD4+ and CD8+ T cells in patients with BA compared with control subjects. PD-1 expression in T cells was negatively associated with IFN-γ concentration in liver (PD-1+CD4+T cells in liver vs. IFN-γ concentration, r = − 0.25, p = 0.05; PD-1+CD8+T cells in liver vs. IFN-γ concentration, r = − 0.39, p = 0.004). Blockade of PD-1 increased IFN-γ expression in CD4+ T and CD8+ T cells (RRV vs. anti-PD-1 treated RRV mice: 11.59 ± 3.43% vs. 21.26 ± 5.32% IFN-γ+ in hepatic CD4+T cells, p = 0.0003; 9.33 ± 4.03% vs. 22.55 ± 7.47% IFN-γ+ in hepatic CD8+T cells, p = 0.0001), suppressed bilirubin production (RRV vs. anti-PD-1 treated RRV mice: 285.4 ± 47.93 vs. 229.8 ± 45.86 μmol/L total bilirubin, p = 0.01) and exacerbated liver immunopathology. Conclusions PD-1 plays a protective role in infants with BA by suppressing IFN-γ production in T cells. Increasing PD-1 signaling may serve as a therapeutic strategy for BA.

Introduction: Pyogenic liver abscess (PLA) is a serious infectious disease of the liver. Pyogenic liver abscess caused by Fusobacterium nucleatum is extremely rare. Here we report the first case of liver abscess caused by F. nucleatum in China. Case Presentation: The case was a 34-year-old female patient admitted to the hospital due to high fever. The diagnosis of liver abscess was confirmed by imaging studies and liver puncture. We finally confirmed the pathogen as F. nucleatum by next-generation sequencing (NGS). After the targeted anti-infective treatment, the patient recovered and discharged. Conclusions: As a new microbial detection method, NGS can still help in clinical practice. In addition, to improve the positive rate of anaerobic bacteria culture, we should pay attention to avoid contact with air in the process of specimen collection when the pathogenic bacteria are suspected to be anaerobic bacteria.

FDG PET/CT was performed for staging in a 15-year-old adolescent girl with cholangiocarcinoma, which showed only mild activity in the tumor but more impressive FDG activity in right femoral fibrous cortical defect without any other hypermetabolic lesions elsewhere. Pathological examination of the resected cholangiocarcinoma revealed significant neuroendocrine differentiation, which lead to subsequent Ga-DOTATATE PET/CT study. Unexpectedly, the same femoral fibrous cortical defect also had increased Ga-DOTATATE activity.

Introduction and objectives: This study assessed the diagnostic protocol and the outcomes of laparoscopic aberrant hepatic duct (AHD) reconstruction in choledochal cyst (CC) surgery. Methods: From January 2010 to January 2018, 275 laparoscopic CC excisions were conducted in our hospital. Seven patients of CC with associated AHD were recorded. AHDs that drained into the cystic duct were anastomosed to the Roux-en-Y loop. Clinical data of these 7 patients were retrospectively analyzed. Results: AHD is classified into four types according to the literature. The type where AHD drains into the cystic duct is the most commonly encountered one. The incidence of this type was 2.5% (7/275) in our series. Preoperative examination included magnetic resonance cholangiopancreatography (MRCP) (5 patients) and computed tomography (CT) scan (2 patients). Suspected AHD was diagnosed preoperatively in 4 out of the 5 patients who underwent MRCP. For the 2 patients who underwent CT scan only, AHD was not detected preoperatively. AHD was verified intraoperatively for all the 4 patients who had suspected diagnosis. Among them, AHD was well preserved in 3 patients, but damaged at exploration in the remaining 1. For the remaining 3 patients without preoperative AHD diagnosis, bile leakage was detected intraoperatively. Ductoplasty of the AHD with common hepatic duct was performed in 3 patients, and AHD was incorporated into the Roux-en-Y jejunal loop separately in 4 patients. Laparoscopic surgical procedures were completed in 6 of the 7 patients in this study, while 1 patient was converted into an open procedure. Postoperative recovery was uneventful in all patients. The duration of follow-up ranged from 6 months to 4 years (median 2 years) with no complication encountered. Conclusions: Routine preoperative MRCP examination of CC is recommended to detect variations of biliary tree. The laparoscopic approach is a feasible option in the experienced hands.

Rosai-Dorfman disease is typically presented as lymphadenopathy, especially in the neck. Extranodal diseases also frequently occur but are generally concurrent with nodal disease. We report FDG PET/CT findings of solitary femoral Rosai-Dorfman disease without any lymphadenopathy in a pediatric patient.

A 43-year-old woman with edema in both left upper limb and lower limb underwent lymphoscintigraphy to evaluate possible lymphedema. Two separate lymphoscintigraphies, one for the lower and the other for the upper limbs, were performed with interval of 3 days. Incidentally, an activity in the region of the thyroid glands was noted in the delayed images of both studies. Subsequently, Graves disease was diagnosed based on the patient's symptoms and the results of laboratory examinations.

Enrofloxacin (ENR) has been approved for the treatment of infections in aquaculture, but it may cause tissue residue. This research aimed to develop and validate a water temperature related PBPK model, including both ENR and ciprofloxacin (CIP), in rainbow trout, and to predict further their residue concentrations and the withdrawal periods for ENR at different water temperatures. With the published concentrations data, a flow-limited PBPK model including both ENR and CIP sub-models was developed to predict ENR and CIP concentrations in tissues and plasma/serum after intravenous, oral, or immersion administration. A Monte Carlo simulation including 500 iterations was further incorporated into this model. Based on the model and Monte Carlo analysis, the withdrawal intervals were estimated for different dosage regimens and at different water temperatures, ranging from 80 to 272 degree-days. All of these values were shorter than the labeled withdrawal period (500 degree-days) in fish. This model provided a useful tool for predicting the tissue residues of ENR and CIP in rainbow trout under different dosage regimens and at different water temperatures.

Diabetes is a chronic illness with severe impacts on the patient’s health. Specifically, diabetes may lead to other complications, such as diabetic foot ulcerations. Diabetic foot ulcers progressively deteriorate without proper treatment, with infections leading to hospitalization and amputation. However, loss of sensation resulting from diabetic neuropathy and other complications may result in these foot ulcers going unnoticed. One of the preventing strategies is to use monitoring devices to detect early onset of diabetic foot ulcers. Previous studies used plantar pressure or joint mobility as indicators to design such devices. However, very few studies combined both measurements. The measuring systems involved are also difficult to operate. The aim of this paper is to present a non-invasive household tool prototype for monitoring and early detection of diabetic ulcers by combining plantar pressure measurements from TEKSCAN HUGE MAT and hip range of motion measurements from a gyroscope sensor installed in smartphones. This new prototype models the situation where a patient walks on a floormat while the phone is located within the front pants pocket at home, which requires minimal human intervention to predict the risk of diabetic ulcerations. Further testing shows that this prototype can obtain measurements with reasonable accuracy.

Purpose Klippel-Trenaunay syndrome (KTS) is a rare disease that was characterized by vascular malformation. Lymphatic malformation was also commonly associated with KTS. However, the application of lymphoscintigraphy in the management of patients with KTS was rarely described. The purpose of this study is to assess whether the findings of lymphoscintigraphy can aid the management of the patients with KTS. Methods A total of 28 patients with known KTS who underwent Tc-dextran lymphoscintigraphy with lower extremity tracer injection were included in this retrospective analysis. The images from lymphoscintigraphy were reviewed for any abnormalities in the body with the attention on the region of left subclavian-jugular venous angle. Results In addition to abnormal activity in the other regions, abnormal activity in the left subclavian-jugular venous angle was visualized in over half of the patients (53.6%, 15/28). Based on the findings of the lymphoscintigraphy, 7 patients with left subclavian-jugular venous angle activity underwent thoracic duct decompression. In 4 patients with postsurgery follow-up, 3 achieved significant, measurable symptomatic relief. Conclusions Lymphoscintigraphy can be used to assess potential candidates for thoracic duct decompression to alleviate the symptoms in patients with KTS.

Background The heterogeneity and diverse pathogenic conditions of HCC construct an immunosuppressive tumor microenvironment (TME) which may lead to low immune checkpoint blockade (ICB) therapeutic responsiveness. Therefore, alleviating immunosuppression to potentiate ICB anti-cancer immunity is in urgent need. Myeloid-derived suppressor cells (MDSCs) with potent T cell suppressive property are correlated with poor prognosis and unsatisfactory ICB response in HCC. In this study, we aimed to study the potential efficacy and functional mechanisms of targeting C-X-C motif chemokine receptor 2 (CXCR2) chemotaxis pathway to block MDSC tumor infiltration, enhancing ICB efficacy using pre-clinical orthotopic HCC mouse models. Methods CXCR2-chemotaxis pathway activation in MDSCs was determined by multi-color flow cytometry in tumor and paired non-tumor liver specimens from HCC patients, as well as healthy blood samples. Therapeutic efficacy of CXCR2 blockade was conducted in an orthotopic mouse model using AZD5069 (100 or 150 mg/kg) which is a CXCR2 antagonist currently undergoing clinical trials and in combination with anti-PD-L1 antibody (10F.9G2). Tumorigenic monitor, immune profiling and survival analysis were performed. Mechanistic study was determined using lentivirus-based gene knockdown in human-blood cell models. Results The result showed that both monocytic (M-MDSC) and polymorphonuclear (PMN-MDSC) populations are elevated in HCC liver tissue compared to healthy donor (HD) control. CXCR2 was widely expressed in immune cells, in particular for MDSC, while its ligand interleukin-8 (IL-8) was expressed in the majority of tumor cells, as well as CD45+ leukocytes in HCC. Notably, the blockade of CXCR2 chemotaxis pathway significantly inhibits MDSC trafficking into tumor microenvironment in HCC orthotopic mouse model. Furthermore, co-blockade of CXCR2 and PD-L1 remarkably reduced tumor weight when compared to a single treatment, in which intratumoral CXCR2+PD-L1+ MDSC was positively associated with tumor burden. Conclusions Our data demonstrated the intricate link between IL-8/CXCR2 axis and MDSC trafficking to TME, providing insight into the immunosuppression mechanism in HCC. Targeting IL-8/CXCR2 chemotaxis pathway may potentiate ICB responsiveness, serving as a novel potential therapeutic option for effectively combined immunotherapy in liver cancer.

Purpose To evaluate the safety and efficacy of ethanol embolization of lip arteriovenous malformations (AVMs). Materials and Methods Seventy-six patients with lip AVMs were treated with 173 ethanol embolization procedures. Lip AVMs were treated with direct puncture alone in 21 patients (35 procedures, 20.2%), transarterial embolization alone in 13 patients (18 procedures, 10.4 %), and a combination of both in 60 patients (120 procedures, 69.3%). Adjunctive surgical resection was performed after embolization for cosmetic purposes based on the patient’s request, including patient preference, functional impairment, and skin necrosis. The mean duration of follow-up was 30.9 months ± 27.6. The follow-up included clinic visits and telephonic questionnaires to evaluate the clinical signs and symptoms of AVMs as well as quality of life measures. Results Of 76 patients, 51 showed 100% devascularization of AVMs, as determined using arteriography, followed by 23 with 76%–99% devascularization and 2 with 50%–75% devascularization. Of the 76 patients, 40 achieved complete symptom relief and 25 achieved major improvements in cosmetic deformity after embolization. Additionally, 54 patients achieved satisfactory function and aesthetic improvement with ethanol embolotherapy alone, whereas 22 achieved similar outcomes with a combination of ethanol embolotherapy and surgical intervention. Thirty-three adverse events (including 1 major) were documented. Conclusions Ethanol embolization of lip AVMs, as a mainstay, is efficacious in managing these lesions, with acceptable complications. Surgical resection after embolization may improve function and cosmesis in a subset of patients.

Pulmonary artery involvement can occur in about half of the patients suffering Takayasu arteritis. Increased FDG activity in the aorta and its main branches in patients with Takayasu arteritis on PET/CT had been well-reported. However, the FDG PET/CT appearance of pulmonary artery involvement in Takayasu arteritis is less known. We present FDG PET/CT findings in a 37-year-old patient with known Takayasu arteritis. The images showed rim-like FDG activity in opacities in the left lung, which was later proven due to narrowed left main pulmonary artery.

Neuroblastoma is one of the most common pediatric malignant tumors. Functional imaging plays an important role in the diagnosis, staging, and therapy response monitoring of neuroblastoma. Although metaiodobenzylguanidine scan with single-photon emission computed tomography/computed tomography remains the mainstay in functional imaging of the neuroblastomas, PET/CT has begun to show increased utility in this clinical setting.

Biliary atresia (BA) is a severe cholangiopathy that leads to liver failure in infants, but its pathogenesis remains to be fully characterized. By single-cell RNA profiling, we observed macrophage hypo-inflammation, Kupffer cell scavenger function defects, cytotoxic T cell expansion, and deficiency of CX3CR1+effector T and natural killer (NK) cells in infants with BA. More importantly, we discovered that hepatic B cell lymphopoiesis did not cease after birth and that tolerance defects contributed to immunoglobulin G (IgG)-autoantibody accumulation in BA. In a rhesus-rotavirus induced BA model, depleting B cells or blocking antigen presentation ameliorated liver damage. In a pilot clinical study, we demonstrated that rituximab was effective in depleting hepatic B cells and restoring the functions of macrophages, Kupffer cells, and T cells to levels comparable to those of control subjects. In summary, our comprehensive immune profiling in infants with BA had educed that B-cell-modifying therapies may alleviate liver pathology.

The gallbladder is generally located at the anterolaterally situated gallbladder fossa on the undersurface of the liver, whereas choledochal cyst, as a dilation of the common bile duct, is located more posteromedially. We reported an ectopically located gallbladder, which appeared to be a choledochal cyst on hepatobiliary scintigraphy in a 10-year-old girl.

Juvenile xanthogranuloma, a rare type of non-Langerhans cell histiocytosis, generally manifests as widespread skin lesions, which is often self-limited. However, when other organs are involved, its outcome can be unfavorable, and there is no clearly defined consensus regarding what is the best imaging modality in monitoring the therapy. We report here findings of a series of FDG PET/CT scans during the course of clofarabine therapy in a 12-year-old girl with extracutaneous juvenile xanthogranuloma.

Biliary atresia (BA) is characterized as an immune-related disorder that involves neonatal biliary obstruction and cholestasis. The aetiology of BA is unclear, and genetic components, environmental factors and immunological responses are involved. In this study, we selected fourteen SNPs in thirteen immune-related genes and investigated their associations with BA by using a large case-control cohort with a total of 503 cases and 1473 controls from southern China. SNP rs1518111 in IL-10 was identified as associated with BA (P=5.79E-03). Epistatic effects of STAT4 and CXCL3, STAT4 and DRAM1, CXCL3 and RAD51B, and IFNG and IL26 were suggested to be associated with BA when we tested the pairwise interactions among these SNPs. Furthermore, we explored the potential role of IL-10 in the pathogenesis of RRV-induced bile duct injury in mice. IL-10 helped to improve the phenotype and inhibit the activation of immune cells in BA mice. In conclusion, this study provided strong evidence implicating IL-10 as a susceptibility gene for BA in a population from southern China. Funding Statement: This study was supported by grant from Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease (No: 2019B030301004). Declaration of Interests: The authors declare no conflicts of interest. Ethics Approval Statement: This study was approved by the institutional review board of the hospital. Informed consent was obtained from the guardians of all patients included in this study.

Kaposiform haemangioendotheliomas (KHEs) complicated by the Kasabach-Merritt phenomenon (KMP) are rare and severe neoplastic lesions often associated with locally aggressive disease, consumption coagulopathy and high mortality rates. Current regimens have yet to achieve a satisfactory therapeutic effect. Thus, an effective and minimally invasive approach for treating complex KHE/KMP cases is necessary for clinical management. The present case series describes patients with KHE/KMP who underwent local suture ligation-assisted percutaneous sclerotherapy to minimise surgical trauma and ensure effective treatment. Between September 2015 and September 2017, 3 consecutive patients with KHE/KMP underwent staged local suture ligation-assisted percutaneous sclerotherapy. Of these patients, 2 presented with medical histories of corticosteroid treatment with unsatisfactory outcomes. The patients underwent a stepwise synthetic serial therapy programme consisting of percutaneous sclerotherapy and adjunctive pharmacotherapy accompanied by a suture ligation procedure. Clinical, radiological, pathological and laboratory data were analysed to evaluate the outcomes of the therapy. All patients were successfully managed with the proposed procedure. Significant relief of clinical symptoms and improvements in haematological indicators were achieved. No recurrence or complications were observed during regular follow-up (4, 19 and 28 months). In conclusion, local suture ligation-assisted percutaneous sclerotherapy was demonstrated to be a safe and effective treatment for KHE/KMP, being minimally invasive, involving simple manipulation and providing a clear treatment benefit in certain cases. Further studies involving larger sample sizes are required to thoroughly evaluate the procedure, which can potentially be used as a novel therapeutic option for KHE/KMP treatment.

AIM To investigate the prevalence and clinical significance of autoimmune liver disease (ALD)-related autoantibodies in patients with biliary atresia (BA). METHODS Sera of 124 BA patients and 140 age-matched non-BA controls were assayed for detection of the following autoantibodies: ALD profile and specific anti-nuclear antibodies (ANAs), by line-blot assay; ANA and anti-neutrophil cytoplasmic antibody (ANCA), by indirect immunofluorescence assay; specific ANCAs and anti-M2-3E, by enzyme linked immunosorbent assay. Associations of these autoantibodies with the clinical features of BA (i.e., cytomegalovirus infection, degree of liver fibrosis, and short-term prognosis of Kasai procedure) were evaluated by Spearman's correlation coefficient. RESULTS The overall positive rate of serum autoantibodies in preoperative BA patients was 56.5%. ALD profile assay showed that the positive reaction to primary biliary cholangitis-related autoantibodies in BA patients was higher than that to autoimmune hepatitis-related autoantibodies. Among these autoantibodies, anti-BPO was detected more frequently in the BA patients than in the controls (14.8% vs 2.2%, P < 0.05). Accordingly, 32 (25.8%) of the 124 BA patients also showed a high positive reaction for anti-M2-3E. By comparison, the controls had a remarkably lower frequency of anti-M2-3E (P < 0.05), with 6/92 (8.6%) of patients with other liver diseases and 2/48 (4.2%) of healthy controls. The prevalence of ANA in BA patients was 11.3%, which was higher than that in disease controls (3.3%, P < 0.05), but the reactivity to specific ANAs was only 8.2%. The prevalence of ANCAs (ANCA or specific ANCAs) in BA patients was also remarkably higher than that in the healthy controls (37.9% vs 6.3%, P < 0.05), but showed no difference from that in patients with other cholestasis. ANCA positivity was closely associated with the occurrence of postoperative cholangitis (r = 0.61, P < 0.05), whereas none of the autoantibodies showed a correlation to cytomegalovirus infection or the stages of liver fibrosis. CONCLUSION High prevalence of autoantibodies in the BA developmental process strongly reveals the autoimmune-mediated pathogenesis. Serological ANCA positivity may be a useful predictive biomarker of postoperative cholangitis.

Hidradenitis suppurativa (HS) is a type of chronic suppurative inflammatory reaction of the hair follicles characterized by recurrent dermal abscesses, sinus tracts and scars. In this report, one case of severe hypertrophic scar induced by facial HS achieved resolution of skin lesions after combined treatment with high concentration single-dose 5-aminolevulinic acid photodynamic therapy (5-ALA PDT). No recurrence was observed up to eleven months of follow-up. The 5-ALA PDT based treatment could improve the severe hypertrophic scar induced by HS in an effective and safe manner.

Lymphoma involving many different organs can be occasionally observed. However, lymphoma involvement of multiple hormone-producing organs is rare. In this report, we described our FDG PET/CT findings in a 21-year-old man whose Burkitt's lymphoma involved not only lymph nodes, the spleen, the brain, and the bones, but also 4 organs in the endocrine system, including the thyroid, right adrenal, the pancreas, and the right testicle.

Lymphoma rarely involves hand or foot. We presented the FDG PET/CT findings of lymphoblastic lymphoma in a 28-year-old man who had recurrent disease in many bones, including those of the hand and foot without any lymph node involvement 17 years after initial diagnosis.

A 20 year old man suffered severe right knee pain, especially when his right foot touched ground. The MRI findings suggested periosteal osteosarcoma, which led to a staging FDG PET/CT. The images showed not only a hypermetabolic right knee lesion but also focally elevated activity in select muscles, which was attributed to altered biomechanics. The resected lesion was pathologically proven as periosteal chondrosarcoma instead of periosteal osteosarcoma. In a follow-up period of 4 years after the surgery, there was no recurrent disease, nor any abnormality in the muscles which showed focal FDG activity on the initial FDG PET/CT.

A 6-year-old girl with high-risk neuroblastoma underwent a I-MIBG scan to monitor the disease status. In addition to the known lesion in the right retroperitoneal region, there were additional foci of increased activity in the right upper quadrate of the abdomen, which were not typical bowel activity. SPECT/CT images located the activity in the cortex of the lower pole of the right kidney, which was partially calcified. Subsequent biopsy confirmed neuroblastoma metastasis to the right kidney, which is extremely rare.

Objective To explore the clinical presentation and molecular genetic characteristics of a cohort of congenital hyperinsulinism (CHI) patients from southern China and also to explore the most appropriate therapeutic approaches. Methods We retrospectively reviewed a cohort of 65 children with CHI. Mutational analysis was performed for KCNJ11 and ABCC8 genes. The GLUD1 gene was sequenced in patients with hyperammonaemia. GCK gene sequencing was performed in those patients with no mutation identified in the ABCC8, KCNJ11 or GLUD1 genes. Results ABCC8 mutations were identified in 16 (25%) of the cohort, GLUD1 mutations were identified in five children, and no KCNJ11 or GCK mutations were identified. Moreover, some unique features of ABCC8 gene mutations in southern Chinese CHI patients were found in this study. The most common mutation was a deletion/insertion mutation p.Thr1042GlnfsX75 was found in five unrelated patients, which possibly represents a relatively common mutation in southern China. Five novel ABCC8 mutations were detected. The mutations were p.Phe5SerfsX72, p.Gln273ArgfsX85, p.Leu724del, p.Asp1447Gly and IVS 25-1G>T. Five compound heterozygous mutations of ABCC8 gene were identified in this study, and three of these patients were diazoxide-responsive. Forty patients were diazoxide-responsive, 13 patients were diazoxide-unresponsive and 12 patients received dietary treatment only. A pancreatectomy was performed in 10 patients who were unresponsive to medical treatment. Conclusion To the best of our knowledge, this is the first study of CHI in south China. Mutations in ABCC8 are the most common causes of CHI in this cohort. Diazoxide and dietary treatment were effective in most patients. Multicentre studies are necessary to obtain the long-term follow-up characteristics of such patients at a national level.

Objective Lingual arteriovenous malformations (AVMs) are extremely rare in clinical practice, which has limited comprehensive research to find standard treatment protocols. This study summarizes the clinical features of lingual AVMs and assesses the safety and efficacy of ethanol embolotherapy in the management of these lesions. Methods Our study group was composed of 52 patients with lingual AVMs treated by ethanol embolization, all of whom received general anesthesia. The optimal access to the nidus of the AVM was by direct puncture, transarterial catheterization, transvenous catheterization, and a combination of these routes. Pure ethanol was manually injected into the nidus of the AVMs. The observed major or minor complications related to ethanol embolization were analyzed, and periodic follow-up of the patients was performed. The devascularization of the lingual AVMs between baseline and final angiography and the clinical outcomes of symptoms and signs after ethanol embolization were evaluated. Results There were 171 embolization procedures (mean, 3.3; range, 1-20) including 166 ethanol embolizations performed; the average volume of ethanol injected in a single ethanol embolization session was 29.8 mL (range, 1-65 mL). Therapeutic outcomes were complete response in 17 patients (33%), partial response in 33 patients (63%), and no response in 2 patients (4%). The effective therapeutic outcomes were gained in 96% of the patients with lingual AVMs treated with ethanol embolization; 25 (48%) of the patients had 83 complications, which were necrosis, infection, hemorrhage of the puncture point, transient hemoglobinuria, postoperative irritability, airway constriction, and coil migration, occurring in 78 procedures (46%). Regular follow-up of all the patients was performed, with the average follow-up period of 37.9 months (range, 1-125 months) after the last treatment. Conclusions Ethanol embolization of lingual AVMs is safe and efficacious and is recommended to be the potential preferred method in the treatment of these complicated lesions.

Background Low-type anorectal malformations (ARMs) are considered benign; however, in China, data regarding such conditions are limited. Thus, this study aimed to assess the middle-term bowel functions and quality of life (QOL) among children with low-type ARM. Methods Children > 3 years of age who underwent treatment for low-type ARM (vestibular fistula [VF] and perineal fistula [PF]) during 2013 and healthy children were included. The children were interviewed during their outpatient visits. The primary outcome measures were bowel function, as assessed using the Baylor Continence Scale (BCS), and QOL, as measured using the Pediatric Quality of Life Inventory (PedsQL 4.0). Results A total of 82 patients responded; mean patient age was 6.8 (range, 3–12) years. Mean BCS score in the control group (7.94 ± 4.74) was significantly lower than that in the VF (18.69 ± 11.11, P

Encapsidation of pregenomic RNA (pgRNA) is a crucial step in hepatitis B virus (HBV) replication. Binding by viral polymerase (Pol) to the epsilon stem-loop (ε) on the 5′-terminal region (TR) of pgRNA is required for pgRNA packaging. However, the detailed mechanism is not well understood. RNA-binding motif protein 24 (RBM24) inhibits core translation by binding to the 5′-TR of pgRNA. Here, we demonstrate that RBM24 is also involved in pgRNA packaging. RBM24 directly binds to the lower bulge of ε via RNA recognition submotifs (RNPs). RBM24 also interacts with Pol in an RNA-independent manner. The alanine-rich domain (ARD) of RBM24 and the reverse transcriptase (RT) domain of Pol are essential for binding between RBM24 and Pol. In addition, overexpression of RBM24 increases Pol-ε interaction, whereas RBM24 knockdown decreases the interaction. RBM24 was able to rescue binding between ε and mutant Pol lacking ε-binding activity, further showing that RBM24 mediates the interaction between Pol and ε by forming a Pol-RBM24-ε complex. Finally, RBM24 significantly promotes the packaging efficiency of pgRNA. In conclusion, RBM24 mediates Pol-ε interaction and formation of a Pol-RBM24-ε complex, which inhibits translation of pgRNA and results in pgRNA packing into capsids/virions for reverse transcription and DNA synthesis. IMPORTANCE Hepatitis B virus (HBV) is a ubiquitous human pathogen, and HBV infection is a major global health burden. Chronic HBV infection is associated with the development of liver diseases, including fulminant hepatitis, hepatic fibrosis, cirrhosis, and hepatocellular carcinoma. A currently approved vaccine can prevent HBV infection, and medications are able to reduce viral loads and prevent liver disease progression. However, current treatments rarely achieve a cure for chronic infection. Thus, it is important to gain insight into the mechanisms of HBV replication. In this study, we found that the host factor RBM24 is involved in pregenomic RNA (pgRNA) packaging and regulates HBV replication. These findings highlight a potential target for antiviral therapeutics of HBV infection.

Hirschsprung disease (HSCR) is a complex genetic disorder of the enteric nervous system that is characterized by a complete loss of the neuronal ganglion cells in the intestinal tract. It is one of the most frequent causes of congenital intestinal obstruction and more than 80% of the causative mutations are in RET. Here, we identified a new RET mutation in a patient and established a cell model that can be used to elucidate the pathogenesis of HSCR. Peripheral blood was collected from a patient who was clinically and pathologically diagnosed with HSCR with a heterozygous deletion mutation (c.180delT; p.Glu61ArgfsX163) in exon 2 of RET. Patient-derived induced pluripotent stem cell (iPSC) lines were generated from dermal fibroblasts. Using immunofluorescence staining and RT-PCR, we showed that the generated iPSCs expressed the pluripotency markers OCT4, SSEA4, SOX2, TRA-1-60, and NANOG. We also showed that the HSCR-iPSCs could differentiate into cells from all three germ layers by spontaneous in-vitro differentiation. In addition, 3 months after the administration of a subcutaneous injection of these iPSCs into nude mice, teratomas with all three germ layers were observed. We identified a new RET gene mutation causing HSCR and successfully established a human iPSC line from an HSCR patient carrying this novel RET mutation, which could be useful in pathogenesis studies of HSCR.

Biliary atresia (BA) has complex genetic etiology, characterized by different levels of hepatic fibrosis after the Kasai procedure and immune responses to the bile duct. As an activator of the two most important inflammatory cells in Biliary atresia (T cells and NK cells), IL-18 is significantly increased in BA patients. This study aims to investigate the association of Interleukin 18(IL-18) with the susceptibility to BA. We examined the association of three polymorphisms (rs549908, rs187238 and rs1946518 in IL-18) and BA susceptibility in a Southern Chinese population composed of 506 cases and 1473 controls. SNP rs187238 and rs1946518 were identified as associated with BA. Interestingly, we also observed that the intragenic synergistic epistasis between SNPs rs187238 and rs1946518 boosting the risk to BA by logistic regression and Multifactor dimensionality reduction (MDR) analysis. This study provides for the first time a direct evidence to support IL-18 as a susceptibility gene for the disease in southern Chinese children.

Ga-DOTATATE PET/CT was performed to determine the cause of endogenous Cushing syndrome in a 10-year-old boy whose MRI studies did not reveal pituitary or adrenal gland abnormality. The PET/CT images demonstrated an intense activity in a small soft tissue nodule in the left upper abdomen where splenules are commonly located. Heat-damaged Tc-labeled red blood cell imaging showed that this soft tissue nodule did not have increased red blood cell activity, which indicated that this lesion was a true somatostatin receptor-rich lesion. The pathology result following surgical resection of the lesion confirmed adrenocorticotropic hormone-producing neuroendocrine tumor.

Congenital hyperinsulinism (CHI) is a severe heterogeneous disorder due to dysregulation of insulin secretion from the pancreatic β-cells leading to severe hypoglycemia in infancy. 18-fluoro-l-3,4-dihydroxyphenylalanine positron emission tomography ((18)F‑DOPA‑PET)/CT is a useful tool in distinguishing between focal and diffuse disease preoperatively. But recent studies have suggested that the scanning may not be accurate as initially estimated. In this study we characterize a case of CHI with a compound heterozygous mutation of ABCC8 gene. The results of clinical investigation, gene mutation analysis, (18)F‑DOPA‑PET/CT scan, and pathological examination showed some new characteristics that have never been reported. The patient was unresponsive to medical therapy with diazoxide and received pancreatectomy twice. Genetic analysis identified a compound heterozygous mutation in ABCC8 genes. Imaging with (18)F‑DOPA‑PET/CT indicated a focal lesion in the head of the pancreas. The pathological diagnosis was an atypical form of CHI. The patient presented with a phenotype of atypical CHI unresponsive to diazoxide. It is considered that a relationship existed between the compound heterozygous mutation and the atypical form. (18)F‑DOPA‑PET/CT is a useful tool in distinguishing between focal and diffuse forms preoperatively but the accuracy is not 100%. The scan result is best combined with genetic analysis and intra-operative biopsy to confirm the histological subtypes. The combination will provide the optimal strategy for the surgical treatment of patients with CHI.

To validate the value of aspartate aminotransferase to platelet ratio index (APRI) in assessment of liver fibrosis and prediction of postoperative prognosis of biliary atresia (BA) infants from Mainland China.Medical records of 153 BA infants who were hospitalized from January 2010 to June 2013 were reviewed. The efficacy of APRI for diagnosis of liver fibrosis was assessed using the receiver operator characteristic (ROC) curve compared to the pathological Metavir fibrosis score of the liver wedge specimens of 91 BA infants. The prognostic value of preoperative APRI for jaundice persistence, liver injury, and occurrence of cholangitis within 6 mo after KP was studied based on the follow-up data of 48 BA infants.APRI was significantly correlated with Metavir scores (rs = 0.433; P0.05). The mean APRI value was 0.76 in no/mild fibrosis group (Metavir score F0-F1), 1.29 in significant fibrosis group (F2-F3), and 2.51 in cirrhosis group (F4) (P0.001). The area under the ROC curve (AUC) of APRI for diagnosing significant fibrosis and cirrhosis was 0.75 (P0.001) and 0.81 (P = 0.001), respectively. The APRI cut-off of 0.95 was 60.6% sensitive and 76.0% specific for significant fibrosis diagnosis, and a threshold of 1.66 was 70.6% sensitive and 82.7% specific for cirrhosis. The preoperative APRI in infants who maintained jaundice around 6 mo after KP was higher than that in those who did not (1.86 ± 2.13 vs 0.87 ± 0.48, P0.05). The AUC of APRI for prediction of postoperative jaundice occurrence was 0.67. A cut-off value of 0.60 showed a sensitivity of 66.7% and a specificity of 83.3% for the prediction of jaundice persistence. Preoperative APRI had no significant association with later liver injury or occurrence of cholangitis.Our study demonstrated that APRI could diagnose significant liver fibrosis, especially cirrhosis in BA infants, and the elevated preoperative APRI predicts jaundice persistence after KP.

Maggot extract (ME) accelerates rat skin wound healing, however its effect on cell maintenance in wound tissues remains unclear. B‑cell lymphoma (Bcl) 2‑associated athanogene (BAG)3 inhibits apoptosis and promotes autophagy by associating with Bcl‑2 or Beclin 1. Bcl‑2, the downstream effector of signal transducer and activator of transcription 3 signaling, is enhanced in ME‑treated wound tissues, which may reinforce the Bcl‑2 anti‑apoptotic activity and/or cooperate with Beclin 1 to regulate autophagy during wound healing. The present study investigated expression levels of BAG3, Bcl‑2, Beclin 1 and light chain (LC)3 levels in rat skin wound tissues in the presence and absence of ME treatment. The results revealed frequent TUNEL‑negative cell death in the wound tissues in the early three days following injury, irrespective to ME treatment. TUNEL‑positive cells appeared in the wound tissues following 4 days of injury and 150 µg/ml ME efficiently reduced apoptotic rate and enhanced BAG3 and Bcl‑2 expression. Elevated Beclin 1 and LC3 levels and an increased LC3 II ratio were revealed in the ME‑treated tissues during the wound healing. The results of the present study demonstrate the anti‑apoptotic effects of BAG3 and Bcl‑2 in ME‑promoted wound healing. Beclin 1/LC3 mediated autophagy may be favorable in maintaining cell survival in the damaged tissues and ME‑upregulated BAG3 may enhance its activity.

Purpose To evaluate the effect of preoperative transcatheter arterial chemoembolization of hepatoblastoma in infants. Materials and Methods Clinical data of 21 infants with hepatoblastoma treated between July 2008 and July 2012 in a single hospital were retrospectively analyzed. After preliminary diagnosis, surgical resection was performed in 9 infants (group I), and transcatheter arterial chemoembolization was performed in 12 infants (group II) before conventional resection. Surgical resection was performed when the tumor bulk appeared sufficiently reduced after transcatheter arterial chemoembolization alone or transcatheter arterial chemoembolization following chemotherapy in cases of pulmonary metastases. Results Tumor shrinkage ranged from 25%–91% with a mean reduction of 69% ( t = 3.816, P = .003) in group II. α-Fetoprotein levels were markedly decreased from 49%–99% with a mean level of 95% ( t = 4.871, P = .000) in group II. Specimens in group II showed massive necrosis with a mean percentage of 72% with no significant treatment-related toxicity. In group II, the surgical time was significantly shorter ( t = 3.438, P = .003), intraoperative blood loss was considerably less ( t = 3.459, P = .003), and the weight of the resected liver was significantly less ( t = 3.785, P = .001). Of 21 patients, 16 survived for 50 months without recurrence. Conclusions Transcatheter arterial chemoembolization effectively reduced tumor volume, decreased α-fetoprotein, and reduced intraoperative hemorrhage. It represents a safe and effective adjuvant bridge to successful surgery for hepatoblastoma in infants.

In the process of exploiting and trial-manufacturing the bus school, we find the small stiffness is insufficient, and there exits such phenomenon that small skin fractures and deformations. This paper Builds a three-dimensional model of the school bus by using CATIA software, and then imports the model into Workbench software, establishing a body frame finite model for free modal analysis. Analyzing the free modal of the body frame based on Workbench, we get the body frame’s inherent frequency and vibration mode, and evaluate the body frame vibration characteristics, and put forward improvement proposal on the problem of body frame.

In the northwest of China, the prevalence of mutations of the three prominent deafness-related genes, GJB2, SLC26A4, and mitochondrial DNA (mtDNA) 12S rRNA, among Tibetan, Tu nationality, and Mongolian subjects is high, at 19%, 28.57%, and 21.05%, respectively. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss.To analyze the prevalence of the three common deafness genes GJB2, mtDNA, and SLC26A4 gene mutations in Tibetan, Tu nationality, and Mongolian patients with nonsyndromic hearing impairment in the Northwest region of China.Genomic DNA was extracted from a total of 189 Tibetan, Tu nationality, and Mongolian probands from the northwest of China. PCR and direct sequencing were used to analyze the coding region of GJB2, mtDNA, and SLC26A4 genes.The mutant allele rate of GJB2 gene was 6.2% in Tibetan and 11.22% in Tu nationality patients, c.235delC was the most prevalent mutation, accounting for 75% of the mutant GJB2 alleles. Mutant allele frequency of SLC26A4 in Tibetan, Tu nationality, and Mongolian subjects was 4.54%, 6.12%, and 15.79% respectively; p.IVS7-2AG was the most common form. Mongolian cases were significantly higher than Tibetan cases (χ² = 7.281, p = 0.007 and p0.05). mtDNA A1555G mutation was detected in six Tibetan, five Tu nationality, and one Mongolian subject; one Tibetan patient carried the C1494T mutation.

Introduction Laparoscopic cyst excision and Roux-en-Y hepaticojejunostomy is gaining popularity as a treatment for choledochal cyst (CDC) in children. However, the learning curve for this challenging laparoscopic procedure has not been addressed. The aim of this study is to determine the characteristics of the learning curve of this procedure. This may guide the training in institutions currently not using this technique. Methods A prospectively collected database comprising all medical records of the first 104 consecutive patients undergoing laparoscopic CDC excision and Roux-en-Y hepaticojejunostomy performed by one surgeon was studied. Multifactorial linear/logistic regression analysis was performed to identify patient-, surgeon-, and procedure-related factors associated with operating times, rates of adverse event, and length of postoperative stay. Results Cumulative sum analysis demonstrated a learning curve for laparoscopic choledochal cyst excision of 37 cases. Comparing the early with the late experiences (37 vs. 67 cases), the surgeon-specific outcomes significantly improved in terms of operating times (352 vs. 240 min; P

The aim of the current study was to evaluate the use of two-dimensional strain echocardiography (2DS) in quantifying right ventricular (RV) function in patients with pulmonary arterial hypertension (PAH). A total of 41 patients with PAH and 40 healthy control patients were recruited to the study. 2DS was used to determine the strain (e) and strain rate (SR) of basal, middle and apical segments of the RV free wall. The aforementioned indicators were compared with measurements of RV function taken by conventional ultrasound and right heart catheterization. The e and SR of all segments of the right ventricular free wall were significantly lower in the PAH group, as compared with the control group (P