Ulcerative colitis（UC）presents as a chronic，non-specific intestinal inflammatory disease with an obscure etiology and pathogenesis.Early clinical manifestations in pediatric patients lack specificity，necessitating reliance on endoscopic of invasive examination，which is poorly tolerated，particularly by infants and toddlers.This review summarizes advancements in non-invasive diagnostic examinations for pediatric UC，emphasizing their value in early detection.Non-invasive imaging modalities，including intestinal ultrasound，CT enterography，and magnetic resonance enterography，can improve children acceptance.Serum autoantibodies，fecal calprotectin，non-coding RNA and other biomarkers also have potential application value for early clinical diagnosis.In addition，recent studies in intestinal microbiota and metabolomics analysis also hold promise for applying to early diagnosis in pediatric UC.

Objective:To explore the relevancy between the uridine diphosphate-glucuronylgly-cosyltransferase 1A1 (UGT1A1) gene mutation and the phenotype of indirect hyperbilirubinemia in children.Methods:Sixteen cases with indirect hyperbilirubinemia who visited the Department of Gastroenterology, Children's Hospital of Nanjing Medical University from July 2013 to November 2019 were retrospectively analyzed and were divided into Gilbert syndrome (GS), Crigler-Najjar syndrome type II (CNS-II), and indirect hyperbilirubinemia groups unexplained by UGT1A1 gene mutations. The differences in gene mutation site information and general clinical data were compared. The association between gene mutation spectrum and bilirubin level was explored by t-test analysis.Results:Ten of the sixteen cases with indirect hyperbilirubinemia had GS, three had CNS-II, and three had indirect hyperbilirubinemia unexplained by UGT1A1 gene mutations. A total of six mutation types were detected, of which c.211G?>?A accounted for 37.5% (6/16), c.1456T?>?G accounted for 62.5% (10/16), and TATA accounted for 37.5% (6/16), respectively. Compared with the GS group, the CNS group had early disease onset incidence, high serum total bilirubin ( t ?=?5.539, P ??0.05) and age of onset ( t ?=?0.3611, P ?>?0.05) between the two groups. There was no significant correlation between the number of UGT1A1 gene mutations and serum bilirubin levels. Children with c.1456T?>?G homozygous mutations had the highest serum bilirubin levels. Conclusion:The common pathogenic variants of the UGT1A1 gene sequence are c.1456T?>?G, c.211G?>?A, and TATA, indicating that these site mutations are related to the occurrence of indirect hyperbilirubinemia and have important guiding significance for the etiological analysis of indirect hyperbilirubinemia in children.

OBJECTIVE: To explore the clinical features and genetic basis of a patient with glycogen storage disease type VI (GSD-VI). METHODS: Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples of the proband and his parents. Genetic variants were detected by using whole exome sequencing. Candidate variants were verified by Sanger sequencing followed by bioinformatics analysis. RESULTS: The proband presented fasting hypoglycemia, hepatomegaly, growth retardation, transaminitis, metabolic acidosis and hyperlactatemia. Liver biopsy indicated GSD. Novel compound heterozygous PYGL gene variants (c.2089A>G/c.158_160delACT) were detected in the proband. Compound heterozygosity was confirmed by Sanger sequencing of the patient's genomic DNA. Provean and MutationTaster predicted the two variants as deleterious and the variant sites are highly conserved. CONCLUSION The compound heterozygous variants (c.2089A>G/c.158_160delACT) of PYGL gene probably underlay the GSD in the patient. The two novel variants have expanded the spectrum of PYGL gene variants and provided the basis for genetic counseling of the family.
Child ; Family ; Genetic Testing ; Glycogen Storage Disease Type VI/genetics* ; Humans ; Mutation ; Whole Exome Sequencing

A 2-year- and 2-month-old girl developed recurrent eczema-like rashes 7 days after birth, followed by the occurrence of poikiloderma and hair loss. Cholestasis occurred at the age of 1 month and 10 days, which was improved but serum transaminase levels were elevated after 4 months. The patient usually presented with slight sweating, heat intolerance, and delayed gross motor development. Skin examination showed generalized mottled hypo- and hyper-pigmented patches, especially in the exposed areas, and sparse hair and eyebrows. Her parents had no similar clinical manifestations. Whole-exome sequencing showed a mutation c.1883G>A (p.Ser628Asn) in the FAM111B gene in the child, which was not found in her parents. According to the typical skin lesions, abnormal liver function and genetic testing results, this patient was diagnosed with hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis, and the mutation c.1883G>A in the FAM111B gene may be the cause of the patient′s clinical manifestations. The patient received hepatoprotective therapy, sun screen intervention, rehabilitation training, etc. After 10-month follow-up, the patient still presented with skin lesions and elevated transaminases, but without other discomforts.

Clinical data, nutrition support and 6-year follow-up results of a patient with Tricho-hepato-enteric syndrome (THES) diagnosed in the Children′s Hospital of Nanjing Medical University in December 2013 were analyzed.The patient suffered severe malnutrition, growth retardation, hypophosphatemia, hypoglobulinemia, high nutritional risk status and significant intestinal dysfunction.The genetic testing revealed SKIV2 L gene variation in this case of THES.During the acute exacerbation of diarrhea, enteral nutrition and periodical short-term parenteral nutrition were given as nutrition support.Deep-hydrolyzed formula by oral and low-fat, low-residue, high-quality-protein diet was given during the remission phase.At last, the diarrhea and nutritional status of the patient improved gradually.The growth and development, including neuromotor development of the case also caught up to children with the same age, and he was capable of schooling.It is suggested that rational individualized nutrition support can significantly improve intestinal function and nutritional status of children with THES, which overcome the dangerous period, improve the quality of life and prolong the survival time.

Objective:To analyze the clinical and endoscopic findings of non-variceal upper gastrointestinal bleeding (NVUGIB) in children and to evaluate the efficacy of endoscopic treatment.Methods:A total of 56 children with NVUGIB admitted to Children′s Hospital Affiliated to Nanjing Medical University from May 2013 to April 2018 were enrolled.After admission, they were treated with endoscopic hemostasis, and they were divided into hematemesis group(8 cases), melena group(31 cases), and hematemesis + melena group(17 cases). In every group, hemoglobin level, blood transfusion rate, helicobacter pylori infection rate, source of hemorrhage, microscopic grading, hemostasis and results were statistically analyzed which they were compared with domestic and foreign studies.Results:In terms of hemoglobin level, hematemesis group was (92.00±25.66) g/L, melena group was (70.29±19.08) g/L, hematemesis + melena group (65.12±12.62) g/L.The differences among the 3 groups were statistically significant ( F=363.301, P<0.01). For blood transfusion rate, 25.00%(2/8 cases) was in hematemesis group, 74.19%(23/31 cases) was in melena group, and 94.12%(16/17 cases) was in hematemesis + melena group.There were significant differences among the 3 groups ( χ2=13.286, P=0.002). Totally, 50 cases (89.28%) were infected with Helicobacter pylori, and there were no significant differences among the 3 groups ( χ2=2.315, P=0.314). About bleeding source, 45 cases (80.35%) suffered from duodenal bulbar ulcer, 8 cases(14.28%) experienced gastric ulcer, 3/56 cases (5.35%) had gastric duodenal compound ulcer, and there were 25 cases(44.64%) with severe digestive tract bleeding.Forrest grade Ⅰa 2/56 cases [3.57%, 2/2 cases of rebleeding (100%)], Ⅰb 10/56 cases [17.85%, 2/10 cases of rebleeding (20%)], Ⅱa 3/56 cases (5.35%), Ⅱb 4/56 cases (7.14%), Ⅱc 2/56 cases (3.57%), and Ⅲ 35/56 cases (62.5%). Forty-eight cases (85.71%) accepted injection hemostasis, 2 cases (3.57%) obtained titanium clip hemostasis, 2 cases (3.57%) had injection + titanium clip hemostasis, 2 cases (3.57%) performed injection + titanium clip + electricity hemostasis, and 2 cases (3.57%) were given injection and surgical hemostasis.Totally, 52 cases (92.85%) achieved successful endoscopic hemostasis, 2 cases (3.57%) had successful second hemostasis, and 2 cases performed surgical operation (3.57%). Conclusions:In children with NVUGIB who need endoscopic hemostasis, duodenal ulcer is the main resource, Helicobacter pylori is the main cause.Children with melena are more likely to have severe bleeding and higher transfusion rate.Endoscopy is the preferred method for diagnosis and treatment.For Forrest Ⅰa and Ⅰb, the conbination of hemostasis under endoscope is more effective.

Objective To evaluate the effect of compound glycyrrhizin on the prevention and cure of cytarabine syndromes. Methods A total of 130 patients with hematological malignancies treated by moderate or high dose of cytarabine in the 303th Hospital of PLA from July 2010 to July 2016 were included. Patients were randomly divided into the control group and the experiment group by using random number table method, and each group had 65 patients. In the control group, patients were treated with cytarabine alone. In the experiment group, patients were treated with cytarabine plus compound glycyrrhizin. Skin rash and fever in patients of the two groups were also recorded. Results of blood routine tests, liver and kidney function tests were monitored during the treatment. Results Sixty-one patients in the experiment group and 63 patients in the control group were enrolled finally. In experiment group and control group, the differences in the incidence of cytarabine syndromes [8.2 % (5/61) vs. 41.3 % (26/63), χ2＝ 18.1, P < 0.001], skin rash [1.6 % (1/61) vs. 12.7 % (8/63), χ2＝16.3, P <0.001], and fever [6.6 % (4/61) vs. 36.5 % (23/63), χ2＝5.63, P <0.017] were statistically significant. There was no significant difference of the incidence of liver injury and minimum blood cell count between the two groups (P＞ 0.05). Conclusion Compound glycyrrhizin can effectively reduce the incidence of cytarabine syndromes, but the larger size and multiple center studies are needed to further verify the effect.

Objective To investigate the related factors of the prognosis of arterial embolectomy of acute cardiogenic cerebral embolism caused by atrial fibrillation.Methods The clinical data of using vein thrombolysis bridging artery embolectomy or arterial embolectomy alone for the treatment of patients with acute cardiogenic cerebral embolism of cerebral large artery occlusion due to atrial fibrillation were analyzed retrospectively.From January 2015 to December 2016,22 consecutive inpatients with cardioembolic cerebral embolism caused by paroxysmal or persistent atrial fibrillation were enrolled,including 10 patients with the 90-day modified Rankin Scale (mRS) score 0-2 (good recovery group) and 12 patients with mRS scores 3-6 (poor recovery group).The clinical features,imaging data,and treatment of the patients in both groups were compared.The factors such as age,gender,preoperative international standardization ratio (INR),embolism position,whether bridging vein thrombolysis before thrombectomy,National Institutes of Health Stroke Scale (NIHSS) score at the onset,time of onset to reperfusion (TOR),whether using tirofiban,times of thrombectomy,modified Thrombolysis In Cerebral Infarction (mTICI) blood flow grade,and postoperative intracranial symptomatic intracerebral hemorrhage were analyzed.Results There were no significant differences in age,gender,preoperative INR,embolism position,the number of intravenous thrombolysis before thrombectomy,the number of using tirofiban in surgery,the proportion of the above mTICI 2b grade,and the proportion of symptomatic cerebral hemorrhage after surgery of the patients between the two groups (P>0.05).The NIHSS score 15.2±2.0 at the onset in the good recovery group was lower than 22.9±8.4 in the poor recovery group.There was significant difference between the two groups (P<0.05).The TOR time (307±86 min) in the good recovery group was less than that of the poor recovery group (426±145 min).There was significant difference between the two groups (P<0.05).Embolectomy was performed 1.5 (0.5,3.0) times in the good recovery group,which was less than the poor recovery group (4.0 [2.0,7.0] times).There was significant difference between the two groups (P<0.05).Conclusions Shortening the time of reperfusion and reducing the number of embolectomy during operation are the important factors for improving the prognosis of patients when atrial fibrillation causes arterial embolectomy in patients with acute cerebral embolism.However,a study of larger sample is needed for further exploration.

Objective To explore the clinical value of 13C-methacetin breath test for the assessment of liver disorder and to analyze its predictive value to the severity of liver function injury in children.Methods Eighteen healthy children served as healthy control group,and 40 patients with different etiology and severity served as experimental group,and then the latter were divided into 2 subgroups,28 patients in Child-Pugh classification A,and 12 cases in below B(11 cases in B and 1 case in C).An oral dose of 2 mg/kg tracer 13C-methacetin was administered to each subject for the 13 C-methacetin breath test.At the same time,serum liver function markers including serum transaminase,bilirubin,albumin and prothrombin time were measured.The acquired data were analyzed by SPSS 17.0 software.Results (1) Metabolisation velocity (MV) max30 and cumulated dose (CUM) 120 in experimental group (46.64 ± 27.93,59.29 ± 30.73) were much lower than those of the healthy control group(73.56 ± 26.03,102.97 ± 41.80) (t =2.450,3.165,all P ＜0.05);(2) MVmax30 and CUM120 were closely correlated with the liver function markers of albumin,total bilirubin,direct bilirubin,prothrombin time (P ＜ 0.05);(3) MVmax30 and CUM120 could predict liver diseases in children,especially the CUM120.With CUM120 =85.80 as a cut-off value to predict liver diseases,the Youden index was 0.578 at its maximum,and the sensitivity and specificity were 77.8％ and 80.0％;(4) Compared with the Child-Pugh classification A,the CUM120 in Child-Pugh classification B and lower B was significantly lower(P ＜ 0.001);(5) CUM120 could predict the severity of liver diseases.With CUM120 =56.15 as a cut off value to predict the severity of liver diseases,the Youden index was 0.857 at its maximum,and the sensitivity and specificity were 85.7％ and 100.0％.Conclusion 13C-methacetin breath test index of CUM120 could predict liver diseases in children and the severity of liver function.

OBJECTIVETo investigate the causes and strategy of difficult intraarterial mechanical thrombectomy (≥3 times) in patients with acute ischemic stroke (AIS).

METHODSThe clinical data of 8 cases of AIS with thrombectomy ≥3 times admitted in Department of Neurology, the 306(th) Hospital of People's Liberation Army from June to October in 2015 was analyzed retrospectively. There were 7 male and 1 female patients, aged from 38 to 86 years with an average age of (70±15) years, in which 5 cases were cardiogenic cerebral embolism and 3 cases were large artery atherosclerotic infarction. The National Institute of Health stroke scale (NIHSS) score (M (QR)) was 16 (12) before procedure and modified thrombolysis in cerebral infarction (mTICI)score were 0 in all the patients. Solitaire AB was used in thrombectomy in the occlusion of the arteries.

RESULTSThe causes of difficult intraarterial thrombectomy included multiple thrombus, tortuosity in vascular paths, guiding catheter being placed below the internal carotid artery siphon leading to weak strength of suction and support of stent, embolus dropping in the thrombectomy and inadequate anesthesia. After successful thrombectomy 3 cases had mTICI score of 2a, 4 cases of 2b, 1 case of 3. The NIHSS score was 5 (24) at 7(th) day after treatment. At the 90-day follow-up 5 patients had good prognosis (modified Rankin score 0 to 2) and 3 had disability (modified Rankin score 3 to 4).

CONCLUSIONCases of AIS with difficult intraarterial thrombectomy can be treated by improving thrombectomy materials and technique, reasonable anesthesia and perioperative medication in decision-making strategy.

Adult ; Aged ; Aged, 80 and over ; Carotid Artery, Internal ; pathology ; Female ; Humans ; Intracranial Embolism ; surgery ; Male ; Middle Aged ; Retrospective Studies ; Stents ; Stroke ; surgery ; Thrombectomy ; Treatment Outcome