70%). Based on the degree of coarctation, they are divided into two groups, one is mild grade (the circumference of isthmus is 0.5～0.8 cm, the ratio of ascending aorta and the aortic isthmus is 30%～ 45%), another is severe grade (the circumference is less than 0.5 cm, the ratio

Objective To investigate the main pathogenic factors of fetal distress and its complications and to reduce perinatal mortality. Methods Two hundred and ten records and pathological slides in autopsy due to fetal distress were reviewed. Results Cord problem was the first cause of fetal distress followed by placental and maternal factors. Most fetal distress were caused by multi-factors. Among 210 cases,meconium aspirative syndrome was found in 170 cases (81%),amniotic fluid aspiration 36 cases (17.1%) and hypoxic syndrome 4 cases (1.9%). There were 59 cases complicated with aspirative pneumonia including 48 cases of meconium aspirative pneumonia and 11 with amniotic fluid aspirative pneumonia. The main complications were hypoxia-ischemic encephalopathy(HIE)(153 cases),diffused pulmonary hemorrhage(68 cases) and fatal malformations (27cases). Conclusion Fetal distress increases perinatal mortality when complicated with HIE,diffused pulmonary hemorrhage,pulmonary infection or fatal malformation

Objective To explore the significance of fatal malformations to the main causes of perinatal death. Methods Autopsy data from 515 perinatal death between 1981.11 to 1999.9 were obtained from the department of pathology, and the distribution of each category of birth defects was analysed. Results One hundred and forty four fatal malformations were collected. The rate of all birth defects among all autopsy was 50.1% in our hospital, and fatal birth defects was 55.8% out of all the malformations. The major birth defects were of heart and great vessal, digestive system, neural system, and respiratory system. Among which, multiple deformity was usually seen among the cases from the obstetric group,including defects of heart and great vessel, neural system, respiratory system and digestive system and the isolated malformations were mostly seen among cases from pediatric group. Conclusions Fatal malformations were still the leading cause of death during perinatal period . The detected rates of defects of the neural system and digestive system were different between autopsy cases from obstetric and pediatric.

Objective To investigate the CT features of hepatic mesenchymal hamartoma (HMH)in children.Methods Nine patients with HMH confirmed by postoperative pathology were enrolled,including 4 were males and 5 were females.Their age ranged from 3 days to 9 years 5 months (the median age was 7 months).All patients admitted due to palpable abdominal mass without jaundice.All patients were examed by contrast-enhanced CT before the operation.Results All the 9 cases showed solitary hepatic mass,among which 6 were in the right lobe,2 were in the left lobe and 1 involved in both lobes.The tumor size ranged from 7.0 to 22.5 cm (mean size was 13.5 cm) in diameter.The CT manifestations of HMH was related to the proportion and distribution of component in the masses.The masses were cystic (n =1),cystic-solid mixed (n =6) and solid (n =3).After contrast administration,the solid component and the septa of the mass showed enhancement while cystic component was not enhanced.Calcification was seen inside the tumor in one case.Conclusions The CT features of HMH in children are multitudinous which are related to postoperative pathological findings.With the clinical history,it is easy to distinguish HMH from the other hepatic tumors.

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 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 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.

OBJECTIVETo investigate the high-resolution computed tomographic (HRCT) features of infants with diffuse lung disease (DLD) for improving the diagnostic accuracy clinically.

METHODTotally 75 infants under 2 years of age with DLD (2010-2013) were involved in this study. Among them, 56 were males and 19 females, aged from 2 days to 24 months (mean age was 10.9 months). According to the clinical or pathological data, the cases were enrolled into three groups, including systemic diseases-associated infantile DLD (30 cases), alveolar structure disorders-associated infantile DLD (23 cases), and infantile DLD specific to infancy (22 cases). Retrospectively, HRCT images, from the three groups respectively, were analyzed and compared. HRCT presentations including airway disorders, interstitial disorders and air space disorders were reviewed. Inter-reviewers consistency check was performed, the consistency between reviewers was good (K = 0.64;P = 0.03, < 0.05), as well as χ(2) test.

RESULTAmong the three groups, some of the HRCT sings (bronchiectasis, thickened bronchiolar wall, mosaic sign, reticular, intralobular nodules and consolidations) had significant differences (χ(2) = 24.52, 6.08, 18.00, 12.56, 9.11 and 11.50, P < 0.05) .

CONCLUSIONThe HRCT features of infantile pulmonary DLD/interstitial LD with different causes were as follows, compared to the other two groups, intralobular nodules was the main feature of the systemic diseases-associated infantile DLD, thickened bronchiolar wall, mosaic sign and consolidations were rare as well. Meanwhile, bronchiectasis was more common in alveolar structural disorders-associated infantile DLD, and reticular opacity was rarely seen. Associated clinical data, the HRCT presentations would help clinicians to make accurate diagnosis.

Bronchial Diseases ; diagnostic imaging ; pathology ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Infant ; Infant, Newborn ; Lung ; diagnostic imaging ; pathology ; Lung Diseases, Interstitial ; diagnostic imaging ; pathology ; Male ; Pulmonary Alveoli ; diagnostic imaging ; pathology ; Retrospective Studies ; Tomography, X-Ray Computed ; methods

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.