Objective To analyze the main clinical manifestations,laboratory features and prognosis of neonatal intrahepatic cholestasis caused by Citrin defiency (NICCD).Methods Twenty-nine NICCD infants were diagnosed by blood tandem mass spectrometry (MS-MS)analysis and/or SLC25A13 mutation analysis from July 2012 to February 2015 in Children's Hospital of Chongqing Medical University.Clinical data of 29 cases were analyzed retrospectively which included manifestations,laboratory features and prognosis.The general situation,feeding,liver function,growth were followed up.Results Twenty-nine infants suffering from NICCD presented jaundice in an early time,and some clinical manifestations were investigated such as hepatomegaly (20/29 cases),splenomegaly (3/29 cases),anemia (14/29 cases),and failure to thrive (9/29 cases).Laboratory data suggested that all of 29 patients had increased conjugated bilirubin,total bile acid,γ-glutamyl transferase and alkaline phosphatase.Some patients also showed abnormal coagulation function (20/22 cases),dyslipidemia (9/20 cases),increased blood lactic acid (22/26 cases) and alpha-fetoprotein (14/14 cases),decreased albumin (24/29 cases),blood glucose (17/22 cases) and ceruloplasmin (4/4 cases).The pathological analysis of one patient's liver indicated the edema and degeneration of liver cells,intrahepatic cholestasis and a small amount of fibrous tissue hyperplasia in portal area.MS-MS analysis of blood samples revealed distinctive increase in methionine,tyrosine,threonine,citrulline,arginine and free carnitine,long chain acyl-carnitine in most patients.Gas chromatography-mass spectrometer (GC-MS) analysis of urine samples mainly showed elevated 4-hydroxyphenyllactic acid and 4-hydroxyphenylpyruvic acid.Prognosis showed that most of the NICCD patients (8/29 cases) could recover in one-year old with a lactose-free,medium chain triglyceride-enriched formula,and one patient died of liver cirrhosis.Three patients at over one-year old had the preference of a high protein and low carbohydrate diet.Conclusions Infants might be considered to have NICCD if they have jaundice in an early time,with the clinical characteristics of hepatomegaly,splenomegaly,abnormal coagulation function,anemia,failure to thrive,dyslipidemia,decresed albumin and blood glucose,increased blood lactic acid and alpha-fetoprotein.After that further tests of MS-MS,GC-MS and gene analysis of this disease are needed to confirm diagnosis.

Objective To systematically evaluate the survival rate difference between minimally invasive surgery(MIE)and traditional open surgery(Open)in treating esophageal cancer perioperative complications and long-term follow-up.Methods Embase,Pubmed,Cohorane library search,Medline,Wanfang and HowNet were retrieved,and the related researches were collected.The literatures screening,data extraction and literature quality evaluation were conducted according to the 5.0 Coehrane reviewers manual.Then the meta analysis was conducted by using the Stata11.0 software.Results This study included 20 non-randomized control trials,with a total sample size of 3 568 cases(1 859 cases in the MIE group and 1 709 cases in the Open group),the pooled results showed that the MIE group had shorter operative time,shorter hospital stay,less intraoperative blood loss and more intraoperative lymph nodes clearing(P＜0.05),and perioperative complications,respiratory system complications,circulatory system complications and perioperative mortality rates were lower(P＜0.05).But postoperative ICU stay time,perioperative complications of digestive system and surgery-related complications,incidence of anastomotic fistula and 3-year survival had no statistically significant differences between the two groups(P>0.05).Conclusion MIE surgery is feasible in the treatment of esophageal cancer,and has lower incidence of perioperative complication compared with traditional surgery.

Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder, and is also a common cause of recurrent abdominal pain in children.The pathogenesis of IBS has not been completely clarified, and it is currently believed to be related to factors such as gastrointestinal dysmotility, visceral hypersensitivity, and brain-gut axis dysfunction.Pediatric IBS often shows abdominal pain, bloating, accompanied by altered bowel habits, while its clinical manifestations are not specific.The diagnosis of IBS is usually made based on the Rome Ⅳ criteria.The ultimate goal of treatment is to improve the quality of life of children, including alleviating the abdominal pain of children and restoring normal bowel habits.The treatment mainly includes adjusting diet and lifestyle, medicine etc.This review is to investigate the progress of the pathogenesis, diagnosis and treatment of IBS in recent years.

Objective:To investigate the clinical features of children with irritable bowel syndrome(IBS), so as to achieve the early diagnosis and treatment, thus avoiding misdiagnosis and mistreatment.Methods:A total of 80 hospitalized IBS patients in the Department of Gastroenterology, Children′s Hospital of Chongqing Medical University from January 2012 to August 2018 were enrolled.Their diagnosis and treatment were analyzed by combining with literature reviews.Results:(1)A total of 80 cases include 53 boys and 27 girls.The mean age at diagnosis was(9.70±2.88)years, and the median duration of disease was 10 months.(2)Abdominal pain was found in all cases, followed by diarrhea in 60 cases, constipation in 31 cases, abdominal distension in 21 cases, vomiting in 19 cases, weight loss in 11 cases, loss of appetite in 9 cases, and headache in 3 cases.Twenty-nine cases had suspected triggers before onset, mostly diet factor.(3)Eighty cases with IBS include 46 cases with irritable bowel syndrome with diarrhea(IBS-D), 17 cases with irritable bowel syndrome with constipation(IBS-C), 13 cases with mixed irritable bowel syndrome(IBS-M) and 4 cases with unsubtyped irritable bowel syndrome(IBS-U). The number of boys with IBS-C and IBS-D was higher than that of girls.IBS-M was on the contrary.IBS-U was equal between them.There were significant differences in gender among the subtypes ( χ2=0.83, P=0.001). Abdominal distension among 4 clinical types was statistically diffe-rent, IBS-M had the highest incidence, followed by were IBS-C, IBS-D, IBS-U.(4)Treatment was aimed at patients education, psychological intervention, dietary management and symptomatic therapy.After the first 6 months visit of 74 cases, 34 cases were sustained relieved, 25 cases were alleviated, and the overall effective rate was 79.73%, but 15 cases were ineffective. Conclusions:IBS is a common functional gastrointestinal disease in children, with more boys than girls.Dietary stimulation is the most common cause.Among the 4 subtypes, the composition ratio of IBS-D is the highest.Most of the cases are effective in symptomatic treatment.There are still some patients with poor curative effect.

Objective To investigate the expression and significance of NADPH oxidases Nox2 and Nox4 in mouse colitis. Methods Mouse colitis model was established by using six-to-eight-week-old 129S /SV mice. Mice were randomly divided into 3 groups: control group,1. 5％ dextran sulfate sodium (DSS) group and 3. 0％ DSS group (n = 10 for each group). All of them were fed for 7 days to adapt to the environment. After then,the control group was given drinking water only,colitis was induced by giving drinking water consisted of 1. 5％ DSS or 3. 0％ DSS for 6 days. Weight loss,disease activity index (DAI) and histology were used to quantify the severity of colon inflammation. Oxidative stress indicator,malondialdehyde (MDA) in serum was measured by biochemical methods. The mRNA levels of pro-inflammation cytokines (IL-1β,IL-6 and TNF-α) were quantified by real-time PCR. The protein and mRNA expression of Nox2 and Nox4 in colon tissue of mice was evaluated by immunohistochemistry and real-time PCR,respectively. Results There was no colitis in the control group,while mild and severe enteritis was found in mice in the 1. 5％ DSS group and 3. 0％ DSS group,respectively. The number of goblet cells was decreased significantly in the 1. 5％ DSS group than that of control group (P < 0. 05),and further reduced in the 3. 0％ DSS group (P < 0. 05). MDA was enhanced along with the increased concentration of DSS (P < 0. 05 for both). The expression of Nox2 and Nox4 protein and mRNA was different with the severity of inflammation. The expression of protein and mRNA of both Nox2 and Nox4 were increased in 1. 5％ DSS group compared with the control group (P < 0. 05),and further reduced in the 3. 0％ DSS group (P < 0. 05). Nox2 mostly expressed in the phagocytes and neutrophils; Nox4 mostly expressed in the neutrophils and lymphocytes. Conclusion Nox2 and Nox4 play an important role in the occurrence of mouse colitis.

Objective:To analyze the safety and efficacy of ultrasound-guided needle-perc assisted retrograde intrarenal surgery (RIRS) in the treatment of small but complex renal calculi, and summarize our clinical experience.Methods:The clinical data of 36 patients with small but complicated renal stones treated by ultrasound-guided needle-perc assisted RIRS in Beijing Tsinghua Changgung Hospital from January 2020 to April 2022, were retrospectively analyzed. There were 25 males and 11 females. The average age was (54.7±6.1) years, and the body mass index (BMI) was (26.3±3.1) kg/m 2. The maximum diameter of the calculi was (1.8±0.7) cm. There were 28 patients without renal hydronephrosis before operation, 8 patients with mild to moderate renal hydronephrosis, 4 patients with caliceal diverticular stones, 32 patients with lower pole stones, 10 patients with ureteral stones, 6 patients with previous surgical history of ipsilateral kidney stones, and 3 patients with stones in the solitary kidneys. Patients were placed in oblique supine lithotomy position or prone split leg position (female). For lower pole stones or diverticular stones that were difficult to be handled by flexible ureteroscope, the needle-perc was used to puncture the stones in target calyx under ultrasound guidance. Holmium laser was then used to pulverize or fragment the calculi, and the flexible ureteroscope was used to remove or further pulverize the stone fragments. Perioperative indexes and postoperative complications were recorded, and stone-free rate was analyzed. Results:All 36 cases were successfully operated. The median operation time was 61.5(59.0, 66.8)min, with a median decrease in hemoglobin on the first postoperative day of 1.6(0.8, 2.0)g/ L, a median postoperative hospital stay of 1.5(1.0, 2.0)days, and a median needle-perc tract of 1(1, 2). The complications were recorded in 4 patients (11.1%), all of which were Clavien-Dindo grade I, including postoperative fever in 2 patients and analgesic use in 2 patients. The primary stone-free rate was 83.3% (30/36). The 6 patients with residual stones were treated by external physical vibration lithecbole on the 3rd to 7th day after surgery. After 1 month follow-up, residual stone expulsion were seen in 3 patients. Three patients with residual stones were followed up regularly. The final stone-free rate was 91.7% (33/36).Conclusions:Ultrasound-guided needle-per assisted RIRS is safe and effective in the treatment of small but complex renal calculi, with high postoperative stone free rate and low complication rate.

【Objective】 The thermal effects of super-pulsed thulium fiber laser (TFL) at different powers,lithotripsy modes and irrigation rates were studied using a 3D kidney model to simulate ureteral lithotripsy in vivo. 【Methods】 A thermal effect model was established in vitro. Under the same conditions of laboratory temperature and equipment,the temperature around the optical fiber was measured and compared when different optical fiber diameters,powers,lithotripsy modes and irrigation rates were used to simulate lithotripsy by TFL. 【Results】 There was significant difference in the temperature around the optical fiber caused by two fibers with different diameters under the same conditions (P<0.05). Under the same conditions,different lithotripsic modes produced different temperatures,and the temperature of "high energy and low frequency" was lower than that of "low energy and high frequency" (P<0.05). When the power was 10 W and the minimum irrigation rate was 10 mL/min,the plateau temperature did not reach the safety threshold (43 ℃). When the power was 20 W and the minimum irrigation rate was 10 mL/min,the platform temperature exceeded the safety threshold. When the irrigation rate was 20 mL/min,the platform temperature did not reach the safety threshold. 【Conclusion】 In the study of ureteral lithotripsy in vitro,the power,mode,irrigation rate and optical fiber diameter are factors affecting the thermal effects of TFL. No matter what kind of lithotripsy mode and fiber diameter,the temperature around the fiber is safe when the lithotripsy power is ≤10 W and the irrigation rate is ≥10 mL/min;when the lithotripsy power is ≤20 W and the irrigation rate is ≥20 mL/min,the temperature around the fiber is safe.