Nano Carbon Tracer in the Repairing of Congenital Abdominal Chylorus Leakage.

Congenital chylous ascites (CCA) is a rare cause of ascites in newborn infants. The main causes include congenital lymphatic obstruction due to atresia or stenosis of the major lacteals, mesenteric cysts and lymphangiomatosis. The mainstay of treatment for CCA is conservative management including medium-chain triglycerides (MCT)-based diet or total parenteral nutrition (TPN), and the addition of octreotide. Surgical exploration is reserved for those cases in whom conservative management has failed. The core problem of chylous abdominal surgery is to find the leakage; once the exact chylous leakage is found, the problem will be solved. The authors used a new carbon nanopartides material to accurately locate the location of chylous leakage. The operation is simple and fast, easy to use, and the effect is remarkable.

Application of jejunal turnover and bowel plication technique in neonatal high intestinal atresia: a retrospective study.

INTRODUCTION: To evaluate the outcomes of jejunal turnover and bowel plication (JTBP) in high jejunal atresia of neonates. MATERIALS AND METHODS: The clinical data of neonates met the criteria were retrospectively analyzed from January 2012 to December 2021.The neonates were divided into the JTBP group and control group according to the surgical procedure.Demographics, postoperative morphology of the duodenum and proximal jejunum,intestinal recovery time and complications were compared. RESULTS: 75 patients were allocated to the JTBP (n=30) and control (n=45) groups, respectively. There was no significant difference between the two groups in terms of gestational age, birth weight, age at surgery,the pathological classification,and concomitant disease. UGCS showed that the diameter of the proximal bowel of the anastomotic stoma was normal and the duodenum and proximal jejunumin streamline shape in the JTBP group.While the duodenum dilated, and the shape of Trojan angle was classified into sharp angle and blunt round angle in the control group.The duration of total parenteral nutrition, postoperative oral feeding time and oral feeding time of 40 mL/3 h was significantly different between the JTBP group and control group(sharp and blunt round type): 9.0±3.5d,7.0±2.1d and 11.0±6.0d vs 16.9±4.2 d, 14.0±5.0 d and 19.0±7.4 d vs 11.9±8.3 d, 8.2±3.9d and 15.8±3.6d(P<0.05). CONCLUSIONS: JTBP for neonatal high jejunal atresia can significantly change the diameter of the proximal bowel and the course of duodenum jejunum flexure. Postoperative bowel movement was more in line with fluid dynamics, which was conducive to the recovery of the intestinal function and resulted in fewer complications.

Human poliovirus receptor contributes to biliary atresia pathogenesis by exacerbating natural-killer-cell-mediated bile duct injury.

BACKGROUND AND AIMS: Natural killer (NK) cells play an important role in biliary atresia (BA) pathogenesis; human poliovirus receptor (PVR) is an important NK-cell modulator. Here, we explored the role of PVR in BA pathogenesis. METHODS: Poliovirus receptor expression and NK cell-associated genes were detected in human BA samples and a rotavirus-induced BA mouse model using quantitative PCR and immunofluorescence staining. Chemically modified small interfering RNA silenced PVR expression in the BA model, and its effects on the population and function of intrahepatic NK cells were investigated using flow cytometry (FCM). The effects of PVR overexpression and knockdown on proliferation, apoptosis and NK-cell-mediated lysis of cultured human cholangiocytes were analysed using FCM and cell viability assays. Serum PVR, high-mobility group box 1 (HMGB1), and interleukin-1beta (IL-1beta) levels were measured in a cohort of 50 patients using ELISA. RESULTS: Poliovirus receptor expression was upregulated in the biliary epithelium of BA patients and BA model and was positively correlated with the population and activation of intrahepatic NK cells. Silencing of PVR expression impaired the cytotoxicity of NK cells, reduced inflammation and protected mice from rotavirus-induced BA. Activation of the TLR3-IRF3 signalling pathway induced PVR expression in cultured cholangiocytes. PVR overexpression promoted proliferation and inhibited the apoptosis of cholangiocytes but exacerbated NK cell-mediated cholangiocyte lysis. Serum PVR levels were elevated in BA patients and were positively correlated with HMGB1 and IL-1beta levels. CONCLUSIONS: Poliovirus receptor contributes to BA pathogenesis by regulating NK cell-mediated bile duct injury; PVR has the value as a biomarker of BA.

CircAMD1 regulates proliferation and collagen synthesis via sponging miR-27a-3p in P63-mutant human dermal fibroblasts.

Transcription factor p63 has critical functions in epidermal, hindgut/anorectal, and limb development. Human mutations in P63 correlate with congenital syndromes affecting the skin, anorectal, and limbs. Nevertheless, less are detected regarding networks and functions controlled by P63 mutations in dermal fibroblasts, which are closely related to skin physiology. To screen for new targets, we employed microarray technology to investigate the R226Q P63 mutation with regards to the resulting circular RNA (circRNA) profiles from P63 point mutations in human dermal fibroblasts (HDFs). In this study, we show that P63-mutant HDFs display reduced proliferation, collagen synthesis, and myofibroblast differentiation; circAMD1 was also downregulated in P63-mutant HDFs compared with wild-type HDFs. Furthermore, overexpressing circAMD1 rescued the functional and phenotypic alterations of p63-mutant HDFs. We as well determined that miR-27a-3p was circAMD1 target involved in effects of circAMD1 in P63-mutant HDFs. Collectively, our data show that circAMD1 functions as a miR-27a-3p sponge that inhibits the functional and phenotypical alteration of P63-mutant HDFs and may be a critical marker in pathogenesis regarding P63-associated traits.

Novel mutations of PKHD1 and AHI1 identified in two families with cystic renal disease.

Objective: To report newly identified mutations in two families in China with cystic renal disease. Case presentations: Two fetuses were found by prenatal ultrasound to have symmetrically enlarged kidneys with increased echogenicity and cystic changes. We isolated fetal and parental genomic DNAs from umbilical cord blood and circulating leukocytes, performed next generation sequencing for mutations, followed by Sanger sequencing for confirmation. We discovered two new heterozygous mutations in PKHD1: c.2507_2515delTGAAGGAGG (p.Val836_Glu838del) in exon 24 among the fetus and father, as well as c.6840G>A (p.Trp2280*) in exon 42 among the fetus and mother. A mutation of c.2507_2515delTGAAGGAGG caused deletion of three amino acids. Two heterozygous mutations in AHI1, c.1304G>A (p.Arg435Gln), and c.3257A>G (p.Glu1086Gly) were identified in the second fetus, while the former was also found in the mother. The mutated locus in AHI1 is highly conserved among humans, dogs, mice, and monkeys. Conclusions: We report two newly identified mutations in PKHD1 and AHI1. An accurate genetic diagnosis is crucial for genetic counseling of parents with offspring carrying cystic renal disease.

Decreased enteric fatty acid amide hydrolase activity is associated with colonic inertia in slow transit constipation.

BACKGROUND: Constipation is one of the most common chronic digestive complaints. Gastrointestinal transit studies have divided it into three patterns: normal transit, slow transit constipation (STC), and outlet obstruction. It has been demonstrated that STC patients respond poorly to standard therapies, and the etiology of STC remains poorly understood. Animal studies have also shown that fatty acid amide hydrolase (FAAH) controls intestinal motility through its putative receptors or non-receptor-mediated pathways. However, the role of FAAH in STC has not been elaborated. METHODS: A case series was carried out on thirty-two STC patients fulfilling the Rome II criteria and on 24 controls. All of the subjects underwent a laparotomy in Shengjing Hospital. Colonic specimens were obtained and used for FAAH expression analysis, enzyme activity assay, and cannabinoid detection. RESULTS: FAAH immunoreactivity occurred in the enteric neurons and in the surface epithelial and glands. The expression level and enzyme activity of FAAH in the STC group were both significantly lower than those in the control group (P < 0.05). The amounts of anandamide, 2-arachidonylglycerol, and palmitoylethanolamide, which are negatively correlated with enzyme activity, were significantly higher in the constipation group than that in the control group. In the STC group, cannabinoid receptor type 1 immunoreactivity occurred predominantly in the submucosal and myenteric fibers that were obviously strong and wave-like in their appearance. Enteric ganglions decreased or disappeared. CONCLUSIONS: The tone of the enteric cannabinoids system is disturbed in STC, and the decreased enteric FAAH activity contributes to colonic inertia in STC.

Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation.

PURPOSE: The aims of this study were to identify the mutation gene of a Chinese family with anorectal malformation (ARM) associated with split hand-foot malformation and to determine the spatiotemporal expression of the mutated gene during hindgut and anorectum development in human embryos. METHOD: A Chinese family with intrafamilial clinically variable manifestation was analyzed and primers were designed for exons 3-14 of P63, DLX5, DLX6, DAC, and HOXD13 as candidate genes and direct sequence analysis of the exons was performed. Immunohistochemical study of mutated gene in the hindgut and anorectum of human embryos of 4th-10th weeks was performed. RESULT: Affected individuals were found to have an Arg227Gln P63 gene mutation. From the 4th-10th weeks of gestation of the human embryo, the P63-positive cells were mainly located on the epithelium of the apical urorectal septum, hindgut, and cloacal membrane. After the anorectum ruptured during the 8th week, the P63 remained strongly immunoreactive on the epithelium of the anal canal and urethra, but the mucous membrane of the rectum exhibited no reaction. CONCLUSIONS: The mutation identified strongly suggests a causal relationship between the ARM phenotype and P63. The expression of P63 was persistently active during the dynamic and incessant septation of the cloaca and hindgut, suggesting that P63 may play a pivotal role in the morphogenesis of the hindgut and anorectum.

Preliminary investigation of the diagnosis of neonatal congenital esophageal atresia using high-resolution ultrasonography: a report of three cases.

OBJECTIVE: To investigate the clinical value of high-resolution ultrasonography (US) in the diagnosis of neonatal congenital esophageal atresia. MATERIALS AND METHODS: Longitudinal or oblique mediastinal and abdominal scans were performed using a high-frequency, linear array Philip IU22 probe of 5-13MHz to measure the length and diameter of the upper and lower esophageal pouches, as well as the gap length. RESULTS: Three neonates with esophageal atresia received surgical treatment. For each case, the length and diameter of the blind upper and/or lower esophageal pouches were measured by ultrasonography. The gaps in two of three cases were long (>3cm), and in one case, it was short (<2cm). CONCLUSIONS: High-resolution ultrasonography can demonstrate clearly the upper and lower pouches, as well as wall features, and has a clear advantage in measuring the length of the lower esophageal pouch and the gap, which is impossible with plain radiography and esophagography. The drawback is that ultrasonography failed to clearly demonstrate the fistula between the esophagus and the trachea. Despite this, high-resolution ultrasonography is a promising modality in the clinical diagnosis of esophageal atresia.

The value of preoperative CT scan in newborns with type C esophageal atresia.

PURPOSE: This study was designed to evaluate the accuracy of preoperative CT scan in depicting the structure of type C esophageal atresia (EA) and determine its role in planning the surgical strategy by digitally measuring the interpouch distance. METHODS: Thirty-five neonates (20 males, 15 females) born with type C EA were enrolled in this study. A helical CT scan was performed after chest radiographs of the neonates with a coiled oroesophageal tube in the upper esophageal pouch. The interpouch distances measured on CT images were compared with the findings at surgery. RESULTS: With the use of helical CT scan, the structure of EA-TEF was accurately depicted; the origins of the fistula and the interpouch distance were defined. The interpouch distance detected by CT scan correlated well with the findings at surgery. Statistical analysis demonstrated no significant difference (R = 0.99, P < 0.001). CT scan findings were crucial in planning the surgical strategy in 14 patients (40%). CONCLUSION: Preoperative CT scan could provide more accurate information about the origin of the fistula and the interpouch distance in type C EA and played a crucial role in planning the surgical strategy.

[Epidemiologic survey on the prevalence and distribution of childhood functional constipation in the northern areas of China: a population-based study].

OBJECTIVE: Functional constipation (FC) is a common complaint in childhood but the prevalence still remains unclear, the aim of this study was to explore the prevalence of FC in childhood in the northern parts of China. METHODS: A screening program on FC in childhood was carried out in 5 northern cities (Beijing, Tianjin, Shenyang, Changchun, Harbin) of China according to symptoms under the Rome III criteria. Random clustered sampling of the inhabitants was carried out under stratification of cities, geographic zones, schools or nurseries. Sample size of each area was in proportion to the population of the area. The range of age was 4-14. All subjects under study were requested to fill in a questionnaire distributed by the teachers. The screening program was carried out immediately after a section survey was completed. All together, 20 000 questionnaires were distributed with 19 638 retrievals. According to the result of the screening, a small number of patients who met the criteria were further selected to undergo a detailed clinical examination in the hospital including laboratory examination, colonic transit time, defecography or/and barium enema, electromyologram and anorectal manometry to exclude organic disease of the colon. Simultaneously, a detailed questionnaire was requested to fill under the assistance of trained doctors or medical students. Prevalence of FC of the population was adjusted by the rate of correct diagnosis from the detailed study. RESULTS: The adjusted point prevalence of FC in 5 northern cities of China according to Rome III criteria was 4.73% with higher prevalence rate of FC seen in the Beijing area (5.02%) than in other cities (4.82%, 4.76%, 4.27%, 4.40%, with P < 0.001). Male to female ratio was 1.26:1 with majority of the FC fell in the 4 - 6 year olds (5.76%). CONCLUSION: FC appeared a common disorder in childhood in the northern parts of China which called for greater attention. Higher prevalence was noted in the age groups of 4-6.

Experience in treating congenital esophageal atresia in China.

PURPOSE: The aim of the study was to evaluate our recent experience in treating esophageal atresia (EA) and the outcomes observed at a single center for pediatric surgery. MATERIALS AND METHODS: The records of infants with EA from 2006 to 2009 were reviewed. Birth weight, associated anomalies, details of management, complications, and outcomes were examined. RESULTS: Forty-eight consecutive infants with EA were identified from 2006 to 2009, of which 33 (69%) were boys. Mean birth weight was 2668 g (range, 1700-3800 g). Common associated malformations (35%) were cardiac anomalies, imperforate anus, limb anomalies, and chromosomal anomalies. Forty-seven were Gross type C, and one was Gross type A. Forty-five infants underwent ligation of the tracheoesophageal fistula and end-to-side primary anastomosis, and one received a colonic interposition. Six patients died (12.5% mortality). Three died before or during operation because of severe pneumonia and complex cardiac anomalies, and 3 died during recovery (within 1 month after repair) because of aspiration and severe pneumonia (early postoperative mortality was 6.67%). Complications included pneumonia, anastomotic leakage (16%, all recovered after conservative treatment), wound sepsis (11%), recurrent tracheoesophageal fistula (9%) (3/4 recovered after conservative treatment), anastomotic stricture (10%), and gastroesophageal reflux in about 2 of 3 patients. Preoperative computed tomographic imaging and 3-dimensional graphic reconstruction used in 15 patients were useful. CONCLUSIONS: Most patients with EA have excellent short- to midterm surgical outcomes. The main factors for mortality are complex cardiac anomalies, aspiration, and pneumonia. Computed tomographic imaging and 3-dimensional graphic reconstruction can provide surgeons with excellent preoperative reference about the anatomy of the defect. Most anastomotic related complications resolve with conservative treatment. Patients of low-risk prognosis group with type A and long gap EA can be managed with a primary colonic interposition with good results. The main midterm complications are gastroesophageal reflux and stricture.

[Preliminary study on diagnostic standard of functional constipation in children from five cities in North China].

OBJECTIVE: To explore the symptomatic criteria for diagnosis in children with functional constipation(FC) in North China. METHODS: A screening program for FC in children was carried out in 5 northern cities (Beijing, Tianjin, Shenyang, Changchun, Harbin) of China according to symptoms using Rome III( criteria. Random clustered sampling of the inhabitants was carried out under stratification of city, region and school or kindergarten. Sample size of each area was in proportion to the population of the area. The range of age was 4-14. All the subjects were requested to fill in a questionnaire distributed by the teacher. The screening program was carried out immediately after a plot survey. A total of 20,000 questionnaires were distributed and 19,638 retrieved. According to the result of the screening, a small number of patients who fulfilled the criteria were further selected to undergo detail clinical examinations in the hospital including laboratory examination, colonic transit time, defecography or/and barium enema, electromyogram and anorectal manometry to exclude organic disease of the colon. A detailed questionnaire was filled in with the assistance from a trained doctor or a medical student. Potential risk factors and the relative symptoms were explored by comparing frequencies between FC group and non-FC group using χ2 and Logistic analysis. RESULTS: Eighteen symptoms (defecation less than 3 times per week, dry hard sausage-shape stool, difficulty in defecation, abdominal pain, nausea and vomiting, etc) could exist in control group, but FC group had a higher frequency. The difference was statistically significant. Multivariable stepwise logistic regression analysis showed that defecation less than 3 times per week, hard sausage-shape feces, difficulty in defecation, and the need for laxative were associated with FC. The absence of other symptoms had no influence on diagnosis of FC. The sensitivity, specificity and diagnostic accuracy of symptomatic standard diagnostic test based on Rome III( criteria in FC children showed that ≥2 items had the best diagnostic accuracy but moderate sensitivity and specificity. CONCLUSION: The symptomatic criteria for FC diagnosis in children are suggested as follows: (1) defecation frequency less than 3 times per week; (2) dry, hard, sausage-shape stool in most defecation; (3) difficulty in most defecation; (4) use of medication or digital evacuation. FC can be considered when 2 of the above 4 criteria are met and the symptoms last at least 2 months.

Rectosigmoid tubular duplication presenting as perineal sepsis in a neonate.

Tubular rectal duplication is a very rare congenital anomaly. We report a case of tubular rectal duplication in a newborn baby who presented with perianal sepsis. The diagnosis was confirmed by barium enema, magnetic resonance imaging, and at operation. We performed total mucosectomy through a posterior sagittal incision combined with laparotomy. The patient was doing quite well at 17-month follow-up examination.

[Quantitative analysis of sensory neurons innervating the muscle levator ani in rats with anorectal malformation].

OBJECTIVE: To quantitatively observe the sensory neurons innervating the levator ani muscle and explore the cause of poor post-operative anorectal function in patients with anorectal malformation (ARM). METHODS: Combining the microsurgery and microinjection techniques, we investigated the deficiency of sensory neurons of the spinal cord in fetal rats with anorectal malformation by injecting the retrograde tracer fluorogold (FG) into the muscle levator ani. Sixty 11 days pregnant female rats were fed with ethylenethiourea (ETU) so as to cause ARM in the fetuses. When the female rats were 20 days pregnant they underwent hysterectomy and the male fetal rats were taken out. Fluorogold (FG), a tracer, was injected into their levator ani muscles. Then the fetal rats were put back into the uteri. Twenty-four hours later hysterectomy was performed for the second time to take out and kill the live fetuses that had undergone FG injection. Their lumbo-sacral spinal cords were taken out, fixed and made into serial longitudinal sections. Digital camera system and fluorescent microscopy were used to observe the FG-labeled sensory neurons. Fifteen normal female rats were used as controls. RESULTS: The FG-labeled sensory neurons innervating levator ani muscle were located mainly in the posterior root ganglia of the 5 th segment of lumber and the 1 st sacral cord. The number of FG-labeled sensory neurons in the normal control fetuses, fetuses without defect of the ETU-fed female rats, fetuses with low type imperforate anus, and fetuses with high type imperforate anus were 11 804 +/- 2362, 10 429 +/- 708, 2886 +/- 705, and 1026 +/- 425 respectively, the latter 2 number being significantly fewer than that in the fetuses without defects (P < 0.05) and that in the normal controls (P < 0.05). CONCLUSION: Defective sensory neurons innervating the levator ani muscle co-exists with the alimentary tract anomaly in rat fetuses with ARM. The defective development of sensory neurons is an important factor likely to contribute to poor post-operative anorectal function despite surgical correction of the ARM.