Objective:To enhance comprehension of undifferentiated embryonal sarcoma of the liver(UESL)in children by analyzing ultra-sound,CT,and MRI imaging features.Methods:A retrospective analysis was conducted on 11 cases of UESL in children,confirmed through surgery and pathology,at the Children's Hospital,Affiliated Capital Institute of Pediatrics from December 2009 to December 2021.We ana-lyzed the ultrasound,CT,and MRI imaging features of all patients and summarized their characteristics.Results:All 11 cases presented with solitary hepatic masses ranging from 11.5 to 19.8 cm in diameter.Imaging manifestations of UESL correlated with component proportion and distribution within the masses.Lesions displayed clear boundaries in all cases.CT scans revealed mixed low density in 11 cases,with ir-regular floc soft tissue density shadows observed at the edge of cystic density areas or around partitions in a few cases.Ultrasound images of all six cases showed solid space-occupying masses,with varying sizes of anechoic regions within the solid mass.MRI T1WI showed mixed low intensity signal in three cases and strip/large high intensity signal areas in the lesion.T2WI revealed mixed high intensity signal and strip low intensity signal areas in 3 lesions.In the arterial phase,lesions displayed slightly to moderately heterogeneous strip/patch enhancement,primarily marginal enhancement in nine cases and thickened,tortuous arterial shadows in eight cases.In the delayed phase,lesions showed continuous uneven enhancement,with enhancement at the edge and peripheral-to-central filling observed in eight cases.Additionally,the enhancement range continuously increased in eight cases,with the false capsule sign identified in eight cases in the delayed stage.Conclu-sions:Imaging features of UESL in children exhibit distinct characteristics.Understanding these features,in conjunction with clinical findings,may aid in early diagnosis.

Objectives:To explore the clinical characteristics of children with adenoid hypertrophy (AH) and laryngopharyngeal reflux (LPR) by detecting the expression of pepsin in adenoids as a standard for AH with LPR.Methods:A total of 190 children who were admitted for surgical treatment due to AH were included in the study. The main clinical symptoms of the patients were recorded, and the degree of adenoid hypertrophy was evaluated. Before the surgery, Reflux Symptom Index (RSI) and Reflux Finding Score (RFS) were used to evaluate the reflux symptoms. After the surgery, pepsin immunohistochemical staining was performed on the adenoid tissue, and according to the staining results, the patients were divided into study group (pepsin staining positive) and control group (pepsin staining negative). SPSS 19.0 software was used for statistical analysis. Quantitative data conforming to normal distribution between the two groups were tested by two-independent sample t test, and quantitative data with skewed distribution were tested by Mann-Whitney U test. Results:The positive rate of pepsin staining in the 190 AH patients was 78.4% (149/190). The study group had higher levels of preoperative symptoms such as erythema and/or congestion of the pharynx(2.1±0.7 vs. 1.8±0.6, t=2.23), vocal cord edema[1.0(0, 1.0) vs. 1.0(0, 1.0), Z=2.00], diffuse laryngeal edema[0(0, 1.0) vs. 0(0, 0), Z=2.48], posterior commissure hypertrophy[(1.4±0.6 vs. 1.1±0.5), t=2.63], and a higher total score on the RFS scale than the control group(6.2±2.7 vs. 5.0±2.6, t=2.47), with statistical differences ( P<0.05). The sensitivity and specificity of RFS score in diagnosing AH with LPR were 24.8% and 80.5%, respectively. When RFS>5 was used as the positive threshold, the sensitivity and specificity of RFS score in diagnosing AH with LPR were 61.1% and 58.5%, respectively. There was a statistical difference in the number of positive cases of RFS score between the study group and the control group(91 vs. 17, χ2=5.04, P=0.032). Conclusions:LPR is common in AH children. Children with AH and LPR have specific performance in electronic laryngoscopy, such as erythema with edema in the pharynx, posterior commissure hypertrophy, and vocal cord edema.

Objectives:To investigate the clinical value of endoscopy and mucosal histology for digestive tract diseases in infants.Methods:Clinical data of 357 infants who underwent 422 gastrointestinal endoscopies from January 2010 to December 2021 were collected. The indications, endoscopic manifestations, histological features of mucosa and diagnosis were analyzed.Results:A total of 159 gastroscopies and 263 colonoscopies were performed. Diarrhea (185 cases), bloody stool (178 cases) and vomiting (46 cases) were common symptoms. Endoscopy showed manifestations including non-specific inflammatory changes (265 cases), ulcer-like changes (72 cases), and normal mucusa (48 cases). A total of 373 biopsies were performed, including 260 cases of abnormal mucosal histology, 109 cases of normal mucosal histology, and 4 cases of too small biopsy specimens for analysis. Diagnoses were 208 cases of anaphylactic disease, 45 cases of inflammatory bowel disease, 15 cases of variation of structure, 10 cases of intestinal lymphangiectasis, 2 cases of autoimmune enteropathy, and 1 case of celiac disease. There was only 1 colonic perforation complicating endoscopy in terms of endoscopic complication.Conclusions:It is safe and effective to perform endoscopy standardly for digestive tract diseases in infants. Endoscopy with biopsies is a greatly informative test for diagnosis in infants.

Objective:To summary the problems that may be encountered in the diagnosis of Xp11.2 translocation/TFE3 gene fusion associated renal cell carcinomas (Xp11 RCC) and to improve the understanding and diagnostic level.Methods:The clinical and pathological data of 5 children with Xp11 RCC pathologically diagnosed in Children′s Hospital of Capital Institute of Pediatrics from January 2015 to December 2019 were collected for retrospective analysis.Results:The 5 cases included 2 males and 3 females with the age of 4-8 years old.All cases presented with abdominal mass.Four cases received radical nephrectomy and radical tumor resection, and 1 case received simple tumor resection after related examination.Routine HE staining, immunohistochemical staining and fluorescence in situ hybridi-zation (FISH) were performed after surgery.The histological morphology of tumor was varied, and the tumor cells were arranged in nest flake, acinar or papillary pattern, with abundant cytoplasm form completely transparent to eosinophilic staining (pink), and gravel-like calcification was visible.Micropapillary arranged tumor cells appeared in 1 case besides classic pattern; in another case, the tumor cells were highly eosinophilic with abundant cytoplasm and visible round or elliptic eosinophilic bodies.The tumor cells in 5 cases showed diffuse and strong expression of TFE3, and FISH assay showed abnormal separation signal.Conclusions:Xp11 RCC is a relatively rare renal malignant tumor with diverse histological morphology, which should be distinguished from other common renal tumors in children.Its immunohistochemical expression and molecular detection are of specificity, and it should be diagnosed based on clinical incidence.

Objective:To analyze the clinical characteristics and efficacy of drug treatment in children with inflammatory bowel disease (IBD) at different ages of onset.Methods:The clinical data of 87 children with IBD admitted to Department of Gastroenterology in Children′s Hospital, Capital Institute of Pediatrics from January 2009 to December 2018 were collected. The patients were divided into four groups according to the age of onset: 0 -<2 years old group (36 cases), 2 -<6 years old group (10 cases), 6 -<10 years old group (12 cases) and 10 -<18 years old group (29 cases). The clinical manifestations, laboratory examination, endoscopic findings, pathologic and genetic changes, and treatment were compared among different age groups with chi-square test or Fisher′s exact text.Results:(1) A total of 87 patients were diagnosed with IBD, including 50 Crohn′s disease (CD) (57%), 25 ulcerative colitis (UC) (29%) and 12 unclassified inflammatory bowel disease (IBD-U) (14%). (2) Patients with fever accounted for 78% (28/36) and 8/10 in the 0 -<2 years old group and 2 -<6 years old group, respectively. Patients with abdominal pain and perianal diseases accounted for 6% (2/36) and 47% (17/36) in the 0 -<2 years old group, and their proportions were significantly different among the four groups (χ 2=8.369, 40.317 and 13.130, all P<0.05). (3) Leukocytosis, thrombocytosis and anemia were more common in the 0-<2 years old group, seen in 72% (26/36), 31% (11/36) and 81% (29/36), respectively. There were significant differences in the changes of complete blood count among the four groups (χ 2=21.919, 8.095 and 11.520, all P<0.05). (4) Colonic involvement accounted for 85% (17/20) in the 0 -<2 years old CD patients. While in the CD patients over 6 years old, 61% (14/23) had inflammation of ileum and colon, with a significant difference compared to that in patients under 6 years old (19% (5/27) , χ 2=9.455, P=0.003). Also, the location of bowel inflammation among the four groups were significantly different (χ 2=21.120, P<0.01). (5) Noncaseating granulomas were found in 15 (30%) CD patients, and crypt abscess was found in 11 (44%) UC patients. (6) Among the 24 patients whose genes were analyzed by high throughput sequencing, 12 had pathogenic single gene mutation. (7) There were 25 patients treated with total enteral nutrition. Among the 25 patients treated with thalidomide, 20 (80%) had clinical remission or partial remission. Among the 19 CD patients treated with infliximab (IFX), 14 had clinical remission at the 6 th week of treatment, and the proportion of remission maintenance at the 30 th week of treatment was 12/14. (8) The rate of clinical remission or partial remission was 64% (23/36) in the 0 -<2 years old group, 8/10 in the 2 -<6 years old group, 11/12 in the 6 -<10 years old group, and 83% (24/29) in the 10 -<18 years old group. Conclusions:The proportion of CD was higher than that of UC in this study. Infant onset inflammatory bowel disease was more likely to present with perianal lesions, and was usually associated with leukocytosis, thrombocytosis and anemia, and has high possibility of single gene mutation. IFX may be effective in treating CD.

Objective To analyze the imaging features of solid pseudopapillary neoplasm of pancreas (SPN) in children, and to improve the awareness of the disease. Methods From January 2007 to December 2016, 12 patients with SPN proven pathologically were enrolled in the study,of whom 12 cases underwent CT scanning and 3 cases underwent MRI scanning. The imaging data of SPN were analyzed retrospectively. The tumor parameters included the location, size, shape, margin, capsule, form, inhancement degree, and presence of calcification, biliary obstruction, surrounding, ascites, lymph node metastasis, as well as distant metastasis, which were comparative analyzed with that of pathology. Results CT showed that 3 cases were located in the head of pancreas,7 cases were located in the body/tail of pancreas, and 2 cases were ectopic. Twelve cases were circular tumors, the diameter of which ranged from 28—76 mm (median diameter 48 mm). Capsules were showed in 10 cases, calcification was seen in 4 cases and hemorrhage was seen in 1 case. Three cases were solid, 8 cases were solid and cystic mixed,and 1 case was cystic. The tumors were heterogeneous, and the solid portion of SPN was moderately to obviously enhanced gradually whereas the cystic part remained unenhanced. Nine cases showed that the tumors growed to the outside of pancreas,in which 4 cases covered by the normal pancreas tissue, 1 case located inside of the pancreas. One case caused biliary obstruction and the collateral circulation of splenic arteriovenous was established in 2 cases due to tumor compressed. Ascites was seen in 2 cases. MRI showed that the cystic components of tumor in 3 cases showed low signal in T1WI and high signal in T2WI, with no enhancement. The solid components of the tumor showed equal signal in T1WI and slightly higher signal in T2WI, with obvious enhancement. Capsules were showed in 3 cases with low signal in T1WI and T2WI, which were obviously enhanced in 2 cases and without enhancement in 1 case;hemorrhage was showed high signal in T1WI in 1 case. No lymph node metastasis and distance metastasis were observed in 12 cases. Conclusions The characteristic imaging findings of SPN in children are boundary clear, capsules, calcification, circular pancreas tumors, which grow to the outside of pancreas, with varied degrees of hemorrhage and necrosis. The solid portion of SPN is moderately or obviously enhanced gradually.

Objective To investigate the CT features of hepatic focal nodular hyperplasia (FNH) in children.Methods Thirteen patients with FNH,which was confirmed by postoperative pathology,were enrolled retrospectively.Plain and contrast CT were performed on all patients before operation.The CT imaging features of FNH including size,shape,density,style of contrast were analyzed retrospectively and compared with pathology.Results There were 13 patients with 16 lesions,8 lesions were found in the right lobe,5 lesions in the left lobe and 3 lesions involving both lobes.The tumor size ranged from 5.5 cm to 11.5 cm (media size 7.5 cm) in diameter.Histologically,2 cases were typical type,11 cases were atypical type.The lesions were regular morphology in 12 cases and 1 case with capsule.On plain CT,the lesions were isodensity (n=1) or slightly low-density (n=12).In 2 typical type lesions,there were slit-like,stellate-shaped low density central scars.Arterial phase demonstrated that 12 cases were significantly enhanced and 1 case showed mild enhancement.The central scar was not enhanced.In 12 cases,thickened and torturous arteries were seen.The enhancement was reduced at the portal venous phase in all the lesions,with 10 cases showing slightly higher density,2cases isodensity and 1 case low-density.Two cases showed mild enhancement of the central scar.The enhancement of the solid portion in all lesions decreased at the delay phase,with 12 cases showing isodensity and 1 case slightly low density.Two cases with central scar showed delayed enhancement with slightly higher density.Conclusion The CT features of FNH in children are diversified but distinctive which are related with postoperative pathological findings.Combining with clinical symptoms and CT features can be helpful for the early diagnosis of FNH in children.

Objective To evaluate wall histological abnormalities 2 to 3 cm to the end in high or intermediate anal atresia in order to identify features that explain postoperative bowel dysfunctions.Methods Sixty anal atresia patients treated in the Capital Pediatric Institution between January 2008 and December 2012 were recruited in our study.36 patients were resected the terminal anal segment (3 cm).Compared with those 24 cases who were not.Resected samples were fixed for HE and immuno-histochemical stainings.Clinical data including sacral ratio (SR),age at operation,gender,bowel function were evaluated.Results There was no significant difference in patients' SR value,gender and age at operation between resected group and control group.The median follow-up period was 4.5 years.The rates of voluntary bowel movement,soiling (grade 1,2,3) were similar in both groups,however,the rates of severe constipation in resection group was significantly lower that in control group (3 ％ vs.21％,P ＜ 0.05) In the bowel wall of distal 2 cm anrectal canal,the connective tissue was found to be irregular and abnormally represented.Muscle coat was abnormal in all cases,showing the dysplasia circular and longitudinal layers.The number of enteric nervous system was significant fewer in distal 2cm anrectal canal than that in distal 3 cm(1.6 ±0.9 vs.5.6 ±1.8,t=11.715,P＜0.01).Conclusions Resection of terminal 3 cm at least of the atresia anal canal benefits postoperative bowel defecation function.

Objective To explore the diagnosis and treatment of celiac disease in children. Method The clinical data of 2 children with celiac disease were analyzed retrospectively. Results Both of them were 8-year and 2-year-old males. Chronic diarrhea and malnutrition were the main manifestations combined with anemia and hypoalbuminemia in both of them. The examinations showed that stool Sultan III staining, anti-endometrial antibody IgA, and anti-gliadin IgA were all positive. Endoscopic examination revealed mucosal lesions in duodenal and small bowel. Pathology showed small intestinal villus atrophy, infiltration of lymphocytes in crypt epithelium, and infiltration of lymphocytes and plasma cells in the lamina propria. Diarrhea was quickly improved in both of them after the gluten diet was avoided, and weight increased significantly. However, one of them failed to maintain a gluten free diet and diarrhea recurred. Conclusions The celiac disease in children is rare in China. It needs to have early diagnosis and treatment, and should be strictly followed by a lifelong gluten free diet.

Objective To make genetic diagnosis of Alagille syndrome (ALGS) patients using target gene sequence capture and next generation sequencing technology.Method Target gene sequence capture and next generation sequencing were used to detect ALGS gene of 4 patients.They were hospitalized at the Affiliated Hospital,Capital Institute of Pediatrics between January 2014 and December 2015,referred to clinical diagnosis of ALGS typical and atypical respectively in 2 cases.Blood samples were collected from patients and their parents and genomic DNA was extracted from lymphocytes.Target gene sequence capture and next generation sequencing was detected.Sanger sequencing was used to confirm the results of the patients and their parents.Result Cholestasis,heart defects,inverted triangular face and butterfly vertebrae were presented as main clinical features in 4 male patients.The first hospital visiting ages ranged from 3 months and 14 days to 3 years and 1 month.The age of onset ranged from 3 days to 42 days (median 23 days).According to the clinical diagnostic criteria of ALGS,patient 1 and patient 2 were considered as typical ALGS.The other 2 patients were considered as atypical ALGS.Four Jagged 1 (JAG1) pathogenic mutations were detected.Three different missense mutations were detected in patient 1 to patient 3 with ALGS(c.839C ＞T(p.W280X),c.703G ＞A(p.R235X),c.1720C ＞T(p.V574M)).The JAG1 mutation of patient 3 was first reported.Patient 4 had one novel insertion mutation (c.1779_1780insA(p.Ile594AsnfsTer23)).Parental analysis verified that the JAG1 missense mutation of 3 patients were de novo.The results of sanger sequencing was consistent with the results of the next generation sequencing.Conclusion Target gene sequence capture combined with next generation sequencing can detect two pathogenic genes in ALGS and test genes of other related diseases in infantile cholestatic diseases simultaneously and presents a high throughput,high efficiency and low cost.It may provide molecular diagnosis and treatment for clinicians with good clinical application prospects.