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Atresia
Kinds of Atresia Selected AbstractsCongenital Atresia of the Ostium of Left Main Coronary Artery: A Rare Coronary Anomaly, Diagnostic Difficulty and Successful Surgical RevascularizationCONGENITAL HEART DISEASE, Issue 5 2007Philip Varghese MRCS ABSTRACT We report the case of an 8-month-old infant who was referred for mechanical circulatory support (extracorporeal membrane oxygenation). Aortogram was compatible with the diagnosis of anomalous origin of left coronary artery to pulmonary trunk. A definitive diagnosis of atresia of the left coronary ostium was only established intraoperatively. Patient underwent successful surgical angioplasty with an autologous pericardial patch. [source] Ovary development in Greenland halibut Reinhardtius hippoglossoides in west Greenland watersJOURNAL OF FISH BIOLOGY, Issue 5 2005C. S. Simonsen Maturity in adult female Greenland halibut Reinhardtius hippoglossoides was studied in three areas in west Greenland waters: the inshore area in Disko Bay and two offshore areas, Baffin Bay and Davis Strait. The aim was to monitor maturity changes in the inshore fjords of Disko Bay over an extended period from winter to autumn and compare these findings with specimens from Baffin Bay and the presumed spawning area in Davis Strait. A significant difference in maturity level was observed in and between the three areas. In Disko Bay maturity indices increased significantly in August and September both with respect to the gonado-somatic index (IG) and the size in the leading oocyte cohort. In the period February to May no significant changes were observed. Mature ovaries were only observed among fish >80 cm total length and only among a fraction of these large fish. Offshore areas of Baffin Bay, even though poorly sampled, showed similar signs in the maturity indices as in Disko Bay. Relative to Disko Bay and Baffin Bay, female fish in Davis Strait had more progressed maturity indices. Furthermore, almost all fish in Davis Strait showed signs of progressed maturity contrary to Disko and Baffin Bay. A large proportion of the Greenland halibut in Disko and Baffin Bay apparently did not begin the maturation cycle until very late in their life history or were repeat spawners with a multi-year maturation cycle. These observations could thus support the hypothesis that Greenland halibut have a prolonged adolescent phase. Atresia was highest in the early phases of maturation in Greenland halibut but relatively high levels of atresia were also observed in fish in more advanced maturity phase. The first was ascribed to fecundity regulation while the latter could be linked to the fish's fitness condition but it was not possible to show this with the available condition index. [source] Biliary Atresia: A mostly preventable disease?JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 1 2008Yumirle P Turmelle [source] Collaborative Approach in the Management of Pulmonary Atresia with Intact Ventricular SeptumJOURNAL OF INTERVENTIONAL CARDIOLOGY, Issue 3 2001F.R.C.P.Article first published online: 8 JUN 200, SHAKEEL A. QURESHI M.B.Ch.B. [source] Analysis of the Long-Term Hearing Results after the Surgical Repair of Aural AtresiaTHE LARYNGOSCOPE, Issue 10 2006Sun O. Chang MD Abstract Objectives: Careful surgical candidate selection guarantees a high probability of serviceable hearing postoperatively in congenital aural atresia (CAA) patients. The authors analyzed hearing results after CAA surgery with long-term follow-up (F/U) with respect to several clinical factors. Study Design: This was a retrospective study. Methods: The medical records of 93 CAA patients (100 ears) who underwent operations from January 1987 through December 2002 at Seoul National University Hospital were reviewed. Mean duration was 56.9 months. The authors evaluated the results of hearing after surgery over 3 year F/U with a view to clarifying the factors accounting for unsuccessful results. Results: Approximately 64% of patients treated surgically achieved a considerable hearing gain over long-term F/U. Postoperative hearing remained relatively stable over the period from 6 months to 3 years postoperatively, yielding only 2.75 dB of aggravation. However, hearing results in revision cases deteriorated with time, which led to statistically higher air-conduction thresholds than those of primary cases at the 1 and 3 year F/Us. Resultantly, only 26.6% of patients having achieved a poor hearing gain post first surgery benefited from revision audiologically. The severity of microtia was found to help predict poor long-term hearing outcomes after CAA surgery. Conclusions: Nonrevision cases and cases with mild microtia appear to have acceptable and stable long-term hearing results. Disappointing long-term hearing results in revision, and severe microtia cases should lead to considerations of alternative options in these cases, such as bone-anchored hearing aids, which offer reliable and stable results. [source] A New Endoscopic Surgical Method for Unilateral Choanal AtresiaTHE LARYNGOSCOPE, Issue 2 2001Bálint Liktor MD No abstract is available for this article. [source] Living Donor Liver Transplantation for Biliary Atresia: A Single-Center Experience with First 100 CasesAMERICAN JOURNAL OF TRANSPLANTATION, Issue 11 2006C.-L. Chen The aim of this study is to present our institutional experience in living donor liver transplantation (LDLT) as a treatment for end-stage liver disease in children with biliary atresia (BA). A retrospective review of transplant records was performed. One hundred BA patients (52 males and 48 females) underwent LDLT. The mean follow-up period was 85.5 months. The mean age was 2.4 years. The mean preoperative weight, height, and computed GFR were 12.2 kg, 82.5 cm, and 116.4 ml/min/1.73 m2, respectively. Twenty-seven patients were below 1 year of age, and 49 patients were below 10 kg at the time of transplantation. Ninety-six had had previous Kasai operation prior to transplant. The mean recipient operative time was 628 min. The mean recipient intraoperative blood loss was 176 ml. Thirty-five did not require blood or blood component transfusion. The left lateral segment (64) was the most common type of graft used. There were 27 operative complications which included 3 reoperations for postoperative bleeding, 9 portal vein, 4 hepatic vein, 4 hepatic artery, and 7 biliary complications. There was one in-hospital mortality and one retransplantation. The overall rejection rate was 20%. The overall mortality rate was 3%. The 6-month, 1-year and 5-year actual recipient survival rates were 99%, 98% and 98%, respectively. [source] Long-Term Outcome of Adult-to-Adult Living Donor Liver Transplantation for Post-Kasai Biliary AtresiaAMERICAN JOURNAL OF TRANSPLANTATION, Issue 10 2006Y. Uchida Our objective was to analyze problems in the perioperative management and long-term outcome of living donor liver transplantation (LDLT) for biliary atresia (BA). Many reports have described the effectiveness of liver transplantation (LT) for BA, particularly in pediatric cases, but little information is available regarding LT in adults (,16 years old). Between June 1990 and December 2004, 464 patients with BA underwent LDLT at Kyoto University Hospital, of whom 47 (10.1%) were older than 16 years. In this study, we compared the outcomes between adult (,16 years old) and pediatric (<16 years old) patients. The incidence of post-transplant intestinal perforation, intra-abdominal bleeding necessitating repeat laparotomy and biliary leakage was significantly higher (p < 0.0001, <0.001 and <0.001, respectively) in adults. Overall cumulative 1-, 5- and 10-year survival rates in pediatric patients were significantly higher (p < 0.005) than in adults. Two independent prognostic determinants of survival were identified: a MELD score over 20 and post-transplant complications requiring repeat laparotomy. Outcome of LDLT in adult BA patients was poorer than in pediatric patients. It seems likely that LT will be the radical treatment of choice for BA and that LDLT should be considered proactively at the earliest possible stage. [source] The Benefits of High-flow Management in Children With Pulmonary AtresiaARTIFICIAL ORGANS, Issue 11 2009Yasuhiro Fujii Abstract The high-flow management of cardiopulmonary bypass (CPB; ,2.4 L/min/m2) is a standard strategy used at this institute for children with pulmonary atresia (PA) due to a fear that the blood flow may be diverted by the major/minor aortopulmonary-collateral-arteries and hypervascularization due to long-term hypoxia. The purpose of this study was to describe the validity of high-flow management in children with PA. The CPB records of 23 children with PA who underwent a definitive biventricular repair between Feb 2006 and Nov 2008 were retrospectively reviewed. The mean age at the operation was 33 ± 22 months. The blood-pressure during bypass was controlled with the same protocol. The mean cooling-temperature was 28.4 ± 3.7°C. The mean minimum hematocrit was 25.0 ± 3.4%. The mean maximum bypass flow index at the initiation, the mean maximum flow index during aortic cross-clamping, the mean minimum flow index during aortic cross-clamping, and the mean maximum flow index after rewarming were 3.1 ± 0.5, 3.1 ± 0.5, 2.6 ± 0.4, and 3.2 ± 0.4 L/min/m2, respectively. The higher bypass flow indexes significantly correlated with the lower serum lactate levels. The lowest oxygen delivery during CPB had significant influences on the urine output during bypass (R = 0.547, P = 0.007), the serum lactate levels at the end of CPB (R = ,0.442, P = 0.035), and the postoperative thoracic effusion (R = ,0.459, P = 0.028). A bypass flow index of 2.4 L/min/m2 may not be sufficient and the maximum requirement of bypass flow index may be 3.2 L/min/m2 or more in this patient population. [source] Atresia of the submandibular duct orifices: an unusual cause of feeding problems and failure to thrive in an infantACTA PAEDIATRICA, Issue 7 2010Eva Ellegĺrd Abstract Atresia of the submandibular duct orifice is a rare developmental anomaly, which causes swelling of the duct by accumulation of saliva. The cystic mass in the floor of the mouth can cause feeding problems, which can be treated by surgical opening of the duct. We report the first Swedish case in a male infant, who had severe difficulties to feed because of bilateral swellings of the submandibular ducts caused by orifice atresia. Conclusion: This is the first case that has described failure to thrive because of this condition and catch up after treatment. It is important to remember that evaluation of feeding problem in an infant must include inspection of the oral cavity. [source] Restrictive Right Ventricular Physiology and Right Ventricular Fibrosis as Assessed by Cardiac Magnetic Resonance and Exercise Capacity After Biventricular Repair of Pulmonary Atresia and Intact Ventricular SeptumCLINICAL CARDIOLOGY, Issue 2 2010Xue-Cun Liang MD Background The hypertrophic myocardium, myocardial fiber disarray, and endocardial fibroelastosis in pulmonary atresia and intact ventricular septum (PAIVS) may provide anatomic substrates for restrictive filling of the right ventricle. Hypothesis Restrictive right ventricle (RV) physiology is related to RV fibrosis and exercise capacity in patients after biventricular repair of PAIVS. Methods A total of 27 patients, age 16.5 ± 5.6 years, were recruited after biventricular repair of PAIVS. Restrictive RV physiology was defined by the presence of antegrade diastolic pulmonary flow and RV fibrosis assessed by late gadolinium enhancement (LGE) cardiac magnetic resonance. Their RV function was compared with that of 27 healthy controls and related to RV LGE score and exercise capacity. Results Compared with controls, PAIVS patients had lower tricuspid annular systolic and early diastolic velocities, RV global longitudinal systolic strain, systolic strain rate, and early and late diastolic strain rates (all P < 0.05). A total of 22 (81%, 95% confidence interval: 62%,94%) PAIVS patients demonstrated restrictive RV physiology. Compared to those without restrictive RV physiology (n = 5), these 22 patients had lower RV global systolic strain, lower RV systolic and early diastolic strain rates, higher RV LGE score, and a greater percent of predicted maximum oxygen consumption (all P < 0.05). Conclusion Restrictive RV physiology reflects RV diastolic dysfunction and is associated with more severe RV fibrosis but better exercise capacity in patients after biventricular repair of PAIVS. Copyright © 2010 Wiley Periodicals, Inc. [source] Clinical aspects on neonatal cholestasis based on observations at a Swedish tertiary referral centreACTA PAEDIATRICA, Issue 2 2001B Fischler The aim of the study was to investigate the clinical aspects of neonatal cholestasis. The medical records of 85 cholestatic infants were retrospectively reviewed. A majority of the patients were referred from other parts of the country. The most common diagnoses were extrahepatic biliary atresia (n= 30 patients), ,1 -antitrypsin deficiency (n=11) and progressive familial intrahepatic cholestasis (n= 11). On presentation, the biliary atresia group had higher mean serum values of bilirubin, G-GT and cholesterol than the patients with intrahepatic cholestasis, with no significant differences noticed for any other biochemical parameter. A lack of excretion on hepatobiliary scintigraphy was noticed in all investigated patients with biliary atresia, but also in 9 of 34 patients with intrahepatic neonatal cholestasis. There was no statistical correlation between the age at portoenterostomy and the outcome in patients with biliary atresia. However, both the detection of a partial flow on perioperative cholangiogram and the establishment of a non-icteric phase within 6 mo after the portoenterostomy correlated to a good outcome. Eight of 11 patients with progressive familial intrahepatic cholestasis were treated with a biliary diversion procedure, five of eight experienced a sustained cholestatic remission. Conclusions: Progressive familial intrahepatic cholestasis may be a more common cause of neonatal cholestasis in Sweden than reported elsewhere and that the experience with biliary diversion is positive. While early referral in patients with extrahepatic biliary atresia remains important, a portoenterostomy should be attempted also in patients referred after 3 mo of age. [source] Congenital Atresia of the Ostium of Left Main Coronary Artery: A Rare Coronary Anomaly, Diagnostic Difficulty and Successful Surgical RevascularizationCONGENITAL HEART DISEASE, Issue 5 2007Philip Varghese MRCS ABSTRACT We report the case of an 8-month-old infant who was referred for mechanical circulatory support (extracorporeal membrane oxygenation). Aortogram was compatible with the diagnosis of anomalous origin of left coronary artery to pulmonary trunk. A definitive diagnosis of atresia of the left coronary ostium was only established intraoperatively. Patient underwent successful surgical angioplasty with an autologous pericardial patch. [source] Degeneration of germ line cells in amphibian ovaryACTA ZOOLOGICA, Issue 3 2010Maria Ogielska Abstract Ogielska, M., Rozenblut, B., Augusty,ska, R., Kotusz, A. 2010. Degeneration of germ line cells in amphibian ovary. ,Acta Zoologica (Stockholm) 91: 319,327 We studied the morphology of degenerating ovarian follicles in juvenile and adult frogs Rana temporaria, Rana lessonae and Rana ridibunda. Degeneration of primordial germ cells was never observed and was extremely rare in oogonia and early oocytes in a cyst phase in juveniles. Previtellogenic oocytes were rarely affected. Three main types of atresia were identified. In type I (subdivided into stages A,D), vitellogenic oocytes are digested by proliferating follicle cells that hypertrophy and become phagocytic. A , germinal vesicle shrinks, nucleoli fuse, oocyte envelope interrupts, and follicular cells hypertrophy; B , follicular cells multiply and invade the oocyte; C , entire vesicle is filled by phagocytic cells; D , degenerating phagocytes accumulate black pigment. Type II is rare and resembles breakdown of follicles and release of ooplasm. In type III, observed in previtellogenic and early vitellogenic oocytes, ooplasm and germinal vesicle shrink, follicle cells do not invade the vesicle, and condensed ooplasm becomes fragmented. The residual oogonia in adult ovaries (germ patches) multiply, but soon degenerate. [source] Anastomotic dilatation after repair of esophageal atresia with distal fistula.DISEASES OF THE ESOPHAGUS, Issue 2 2009Comparison of results after routine versus selective dilatation SUMMARY After repair of esophageal atresia with distal fistula (EADF), anastomotic dilatations are often required. We abandoned routine dilatations (RD), in 2002, for selective dilatations (SD) only when the symptoms arose. We compared the number of dilatations and long-term results after RD and SD. Eighty-one successive EADF patients from 1989 to 2007 (RD 46, SD 35), with primary anastomosis, native esophagus, and peroral feeding, were included. Spitz classification, birth weight, gestational age, incidence of gastroesphageal reflux, tracheomalacia, and postoperative complications did not differ statistically significantly between the groups whereas the total incidence of associated anomalies in RD group was higher than in SD (P < 0.05) In RD group, anastomotic dilatations were begun 3 weeks postoperatively and repeated until the anastomotic diameter was 10 mm. In SD group, dilatations were performed only in symptomatic patients. The number of dilatations, dilatation-related complications, nutritional status, and outcome up to 3 years after repair were compared. The median number of dilatations was seven (2,23) in RD and two (0,16) in SD group (P < 0.01). Sixteen (46%) patients in SD group had no dilatations during the first 6 months. The incidence of dysphagia, bolus obstructions, and development of nutritional status were similar between the groups. The incidence of complications/dilatation was 0.6% in RD and 1.0% in SD group. One patient in RD group underwent resection for a recalcitrant anastomotic stricture. After repair, EADF policy of SD resulted in significantly less dilatations than RD with equal long-term results. [source] The Use of 3D Contrast-Enhanced CT Reconstructions to Project Images of Vascular Rings and Coarctation of the AortaECHOCARDIOGRAPHY, Issue 1 2009Thomas G. Di Sessa M.D. Background: Aortic arch and pulmonary artery anomalies make up a group of vascular structures that have complex three-dimensional (3D) shapes. Tortuosity as well as hypoplasia or atresia of segments of the aortic arch or pulmonary artery makes the conventional two-dimensional (2D) imaging difficult. Methods: Nine patients with native coarctation or recoarctation and 4 patients with a vascular ring had a CT scan as a part of their clinical evaluation. There were 7 males. The mean age was 11.7 years. (range 19 days to 29 years) The mean weight was 22.7 kg (range 3.3,139.0 kg). The dicom data from contrast CT scans were converted by the Amira software package into a 3D image. The areas of interest were selected. The images were then projected in 3D on a standard video monitor and could be rotated 360° in any dimension. Results: Adequate CT scans and 3D reconstructions were obtained in 12 of 13 patients. There were 85,1,044 slices obtained in the adequate studies. We could not reconstruct a 3D image from a patient's CT scan that had only 22 slices. The anatomy defined by 3D was compared to 2D CT imaging and confirmed by cardiac catheterization or direct visualization in the operating room in the 12 patients with adequate 3D reconstructions. In 5 of 12 patients, 3D reconstructions provided valuable spatial information not observed in the conventional 2D scans. Conclusion: We believe that 3D reconstruction of contrast-enhanced CT scans of these complex structures provides additional valuable information that is helpful in the decision-making process. [source] Effects of the estrogen agonist 17,-estradiol and antagonist tamoxifen in a partial life-cycle assay with zebrafish (Danio rerio)ENVIRONMENTAL TOXICOLOGY & CHEMISTRY, Issue 1 2007Leo T. M. van der Ven Abstract A partial life-cycle assay (PLC) with zebrafish (Danio rerio) was conducted to identify endocrine-disrupting effects of 17,-estradiol (E2) and tamoxifen (TMX) as reference for estrogen agonist and antagonist activity. Adult zebrafish were exposed for 21 d and offspring for another 42 d, allowing differentiation of gonads in control animals. The assessed end points included reproductive variables (egg production, fertilization, and hatching), gonad differentiation of juveniles, histopathology, and vitellogenin (VTG) expression. With E2, the most sensitive end points were feminization of offspring (at 0.1 nM) and increased VTG production in males (at 0.32 nM). At 1 nM, decreased F1 survival, increased F1 body length and weight, VTG-related edema and kidney lesions, and inhibited spermatogenesis were observed. Oocyte atresia occurred at even higher concentrations. Exposure to TMX resulted in specific effects at an intermediate test concentration (87 nM), including oocyte atresia with granulosa cell transformation and disturbed spermatogenesis (asynchrony within cysts). In F1, decreased hatching, survival, and body weight and length as well as decreased feminization were observed. Decreased vitellogenesis and egg production in females and clustering of Leydig cells in males occurred at higher concentrations. Toxicological profiles of estrogen agonists and antagonists are complex and specific; a valid and refined characterization of endocrine activity of field samples therefore can be obtained only by using a varied set of end points, including histology, as applied in the presented PLC. Evaluation of only a single end point can easily produce under- or overestimation of the actual hazard. [source] Gonadal differentiation in frogs exposed to estrogenic and antiestrogenic compoundsENVIRONMENTAL TOXICOLOGY & CHEMISTRY, Issue 10 2003Constanze A. Mackenzie Abstract Exposure of amphibians to endocrine disrupting compounds (EDCs) may alter differentiationof gonads, especially when exposures begin during early life stages. Gonadal differentiation was observed in leopard frogs (Rana pipiens) and wood frogs (Rana sylvatica) exposed as tadpoles to estrogenic (estradiol, ethinylestradiol, nonylphenol) and antiestrogenic compounds (an aromatase inhibitor, flavone, and an antiestrogen, ICI 182780). Exposure to all compounds at ,g/L concentrations altered gonadal differentiation in some animals by inducing either complete feminization or an intersex condition, and altered testicular tubule morphology, increased germ cell maturation (vitellogenesis), and oocyte atresia. Comparisons between the two species indicate that R. pipiens are more susceptible to sex reversal and development of intersex gonads. However, R. sylvatica also showed alterations to testicular morphology, germ cell maturation, and ooctye atresia. These laboratory results indicate that amphibians could be susceptible to altered gonadal differentiation and development when exposed to estrogenic and antiestrogenic compounds in aquatic environments, such as those impacted by agricultural, industrial, and municipal runoff. [source] Case Report: Atresia coli in a foal: Diagnosis made with colonoscopy aided by N-butylscopolammonium bromideEQUINE VETERINARY EDUCATION, Issue 9 2010B. Hunter Summary Atresia coli, a rare congenital defect, was diagnosed in a foal via colonoscopy after N-butylscopolammonium bromide was used to aid visualisation of the intestinal defect. Colonoscopy is a cost effective tool for diagnosing atresia of the terminal colon. N-butylscopolammonium bromide aided colonoscopy has not been previously reported in horses. [source] Joubert syndrome: review and report of seven new casesEUROPEAN JOURNAL OF NEUROLOGY, Issue 8 2004S. Kumandas Joubert syndrome (JS) is an autosomal-recessive disorder, characterized by hypotonia, ataxia, global developmental delay and molar tooth sign on magnetic resonance imaging. A variety of other abnormalities have been described in children with JS, including abnormal breathing, abnormal eye movements, a characteristic facial appearance, delayed language, hypersensitivity to noise, autism, ocular and oculomotor abnormalities, meningoencephaloceles, microcephaly, low-set ears, polydactyly, retinal dysplasia, kidney abnormalities (renal cysts), soft tissue tumor of the tongue, liver disease and duodenal atresia. Even within siblings the phenotype may vary, making it difficult to establish the exact clinical diagnostic boundaries of JS. We review the clinical characteristics of seven cases that fulfill the criteria of JS. [source] The amazing universe of hepatic microstructure,HEPATOLOGY, Issue 2 2009Valeer J. Desmet An informal review is presented by the author of his 50 years of involvement in practice and research in hepatopathology. Some background for the author's attitude and meandering pathway into his professional career serves as introduction to a short discussion of the main topics of his interest and expertise. Histogenesis of liver cancer was the theme of early work for a Ph.D. thesis, the results of which were lost into oblivion due to local rules and circumstances, but were rescued three decades later. His conclusions about the cells of origin of liver cancer remain concordant with the newer concepts in the field after nearly half a century. Studies in the field of chronic hepatitis became a long saga, involving the first classification of this syndrome by "the Gnomes" in 1968, histochemical investigations of viral antigens, lymphocyte subsets and adhesion molecules, and a quarter century later, the creation of a new classification presently in use. Cholestasis was a broadening field in diagnostic entities and involved the study of liver lesions, comprising pathways of bile regurgitation (including reversed secretory polarity of hepatocytes) and so-called ductular reaction. The latter topic has a high importance for the various roles it plays in modulating liver tissue of chronic cholestasis into biliary cirrhosis, and as the territory of hepatic progenitor cells, crucial for liver regeneration in adverse conditions and in development of liver cancer. Study of the embryology of intrahepatic bile ducts helped to clarify the strange appearance of the ducts in "ductal plate configuration" in several conditions, including some forms of biliary atresia with poor prognosis and all varieties of fibrocystic bile duct diseases with "ductal plate malformation" as the basic morphologic lesion. (HEPATOLOGY 2009;50:333,344.) [source] Corticosteroid treatment in biliary atresia: Tonic or toast?,,HEPATOLOGY, Issue 6 2007Ronald J. Sokol M.D. First page of article [source] Screening and outcomes in biliary atresia: Summary of a National Institutes of Health workshop,,HEPATOLOGY, Issue 2 2007Ronald J. Sokol Biliary atresia is the most common cause of end-stage liver disease in the infant and is the leading pediatric indication for liver transplantation in the United States. Earlier diagnosis (<30-45 days of life) is associated with improved outcomes following the Kasai portoenterostomy and longer survival with the native liver. However, establishing this diagnosis is problematic because of its rarity, the much more common indirect hyperbilirubinemia that occurs in the newborn period, and the schedule for routine infant health care visits in the United States. The pathogenesis of biliary atresia appears to involve immune-mediated fibro-obliteration of the extrahepatic and intrahepatic biliary tree in most patients and defective morphogenesis of the biliary system in the remainder. The determinants of the outcome of portoenterostomy include the age at surgery, the center's experience, the presence of associated congenital anomalies, and the postoperative occurrence of cholangitis. A number of screening strategies in infants have been studied. The most promising are early measurements of serum conjugated bilirubin and a stool color card given to new parents that alerts them and their primary care provider to acholic stools. This report summarizes a National Institutes of Health workshop held on September 12 and 13, 2006, in Bethesda, MD, that addressed the issues of outcomes, screening, and pathogenesis of biliary atresia. (HEPATOLOGY 2007;46:566,581.) [source] Cellular and humoral autoimmunity directed at bile duct epithelia in murine biliary atresia,,HEPATOLOGY, Issue 5 2006Cara L. Mack Biliary atresia is an inflammatory fibrosclerosing lesion of the bile ducts that leads to biliary cirrhosis and is the most frequent indication for liver transplantation in children. The pathogenesis of biliary atresia is not known; one theory is that of a virus-induced, subsequent autoimmune-mediated injury of bile ducts. The aim of this study was to determine whether autoreactive T cells and autoantibodies specific to bile duct epithelia are present in the rotavirus (RRV)- induced murine model of biliary atresia and whether the T cells are sufficient to result in bile duct inflammation. In vitro analyses showed significant increases in IFN-,,producing T cells from RRV-diseased mice in response to bile duct epithelial autoantigen. Adoptive transfer of the T cells from RRV-diseased mice into naďve syngeneic SCID recipients resulted in bile duct,specific inflammation. This induction of bile duct pathology occurred in the absence of detectable virus, indicating a definite response to bile duct autoantigens. Furthermore, periductal immunoglobulin deposits and serum antibodies reactive to bile duct epithelial protein were detected in RRV-diseased mice. In conclusion, both cellular and humoral components of autoimmunity exist in murine biliary atresia, and the progressive bile duct injury is due in part to a bile duct epithelia,specific T cell,mediated immune response. The role of cellular and humoral autoimmunity in human biliary atresia and possible interventional strategies therefore should be the focus of future research. (HEPATOLOGY 2006;44:1231,1239.) [source] The surgical management of biliary atresia: Does variceal hemorrhage contribute to decision making?HEPATOLOGY, Issue 2 2002Peter F. Whitington M.D. No abstract is available for this article. [source] Susceptibility to experimental biliary atresia linked to different hepatic gene expression profiles in two mouse strainsHEPATOLOGY RESEARCH, Issue 2 2010Johannes Leonhardt Aim:, To compare hepatic gene expression during the development of experimental biliary atresia (BA) in two different mouse strains. Methods:, Balb/c mice and C57Black/6 (Black/6) mice were infected with rhesus rotavirus (RRV) postpartum, clinical signs of BA and survival were noted. Liver sections were assessed for cluster of differentiation antigen (CD) 3, CD4 and CD8 expression, and the hepatic virus load was determined. Second, mice of both strains were sacrificed three days after infection. Isolated hepatic RNA was subjected to gene expression analysis using Affymetrix Gene Chip MOE 430 2.0. Results:, The incidence of BA was significantly lower in Black/6 mice compared to Balb/c mice (13.5% vs. 67%, P < 0.05). The mean virus titers were higher in mice with BA compared to mice without BA. Different gene profiles three days after virus infection were noted, with differential expression of 201 genes, including those regulating apoptosis, nucleic acid binding, transport function and particularly the immune response (chemokine C-C motif ligand 2, toll-like receptor 3, CD antigen 14, chemokine (C-X-C motif) ligands 10 and 11). This correlated with a significant increase of CD4 positive cells only in Balb/c mice with BA compared to healthy mice (13.5 vs. 5.0; P < 0.05). Black/6 mice did not exhibit any significant increase of CD3 or CD4 leukocytes despite cholestasis. Conclusion:, The different susceptibility to experimental BA was associated with an increase of CD4 T-cells in the liver of Balb/c mice, which is linked to different gene profiles at the onset of bile duct obstruction. [source] Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex,HUMAN MUTATION, Issue 10 2010Ken Natsuga Abstract Plectin is a cytoskeletal linker protein which has a long central rod and N- and C-terminal globular domains. Mutations in the gene encoding plectin (PLEC) cause two distinct autosomal recessive subtypes of epidermolysis bullosa: EB simplex (EBS) with muscular dystrophy (EBS-MD), and EBS with pyloric atresia (EBS-PA). Previous studies have demonstrated that loss of full-length plectin with residual expression of the rodless isoform leads to EBS-MD, whereas complete loss or marked attenuation of expression of full-length and rodless plectin underlies the more severe EBS-PA phenotype. However, muscular dystrophy has never been identified in EBS-PA, not even in the severe form of the disease. Here, we report the first case of EBS associated with both pyloric atresia and muscular dystrophy. Both of the premature termination codon-causing mutations of the proband are located within exon 32, the last exon of PLEC. Immunofluorescence and immunoblot analysis of skin samples and cultured fibroblasts from the proband revealed truncated plectin protein expression in low amounts. This study demonstrates that plectin deficiency can indeed lead to both muscular dystrophy and pyloric atresia in an individual EBS patient. © 2010 Wiley-Liss, Inc. [source] Mental health in infants with esophageal atresia,INFANT MENTAL HEALTH JOURNAL, Issue 1 2009Anne Faugli Chronic somatic illness in infancy may challenge the development of mental health and impinge the infant's capability to form close interpersonal relationships. Esophageal atresia (EA) is a congenital anomaly requiring neonatal surgery, medical aftertreatment, and extended hospitalization. The aim of the study was to assess mental health and to find prognostic factors for mental health among infants with EA. Thirty-nine infants treated consecutively during 2000 to 2003 and their mothers were included. Infant mental health was assessed by Diagnostic Classification: 0,3 (Zero to Three, 1994). Medical and environmental data were collected from medical records and semistructured interview with the mothers. Child development was assessed with the Bayley scales, second edition (N. Bayley, 1993). Maternal psychological distress, anxiety, and child temperament were assessed by self-report questionnaires: the General Health Questionnaire, 30-item version (D. Goldberg & P. Williams, 1988); the State Trait Anxiety Inventory (C.D. Spielberger, R. Gorsuch, & R. Lushene, 1970); and the Infant Behaviour Questionnaire (M.K. Rothbart, 1981). Thirty-one percent of the infants with EA showed mental health disorders by 1 year of age. Prognostic factors predicting mental health were posttraumatic symptoms reported by mother, more than one operation, mechanical ventilation beyond 1 day, and moderate/severe chronic family strain. Relational trauma, vulnerable attachment, and impaired self-development are highlighted as possible pathways for psychopathology. Children with EA are vulnerable to mental health disorders, and this study may help clinicians to identify children at risk. [source] Distal ureteral atresia: Recovery of renal function after relief of obstruction at ten months oldINTERNATIONAL JOURNAL OF UROLOGY, Issue 6 2005SATOSHI ASHIMINE Abstract A large cystic mass that occupied more than half of the abdomen was identified by ultrasound in a 10-month-old boy. Intravenous pyelography failed to visualize the right kidney, so we created a loop ureterocutaneostomy followed by temporary nephrostomy to improve renal function. Exploratory surgery revealed complete atresia of the distal right ureter. A ureteral stricture developed after ureteroneocystostomy and undiversion of the loop, so a second reconstruction procedure was required (pelvi-ureteroplasty and reimplantation of the right ureter with a psoas hitch) to free the patient from dependence on catheters. Despite the occurrence of giant hydronephrosis secondary to complete ureteral obstruction at the age of 10 months, the function of the right kidney could be preserved. Accordingly, aggressive attempts to promote functional recovery may be justified even when patients have advanced hydronephrosis. [source] Histological study of fetal kidney with urethral obstruction and vesicoureteral reflux: A consideration on the etiology of congenital reflux nephropathyINTERNATIONAL JOURNAL OF UROLOGY, Issue 10 2003KENJI SHIMADA Purpose: A recent subject of interest regarding reflux nephropathy is the presence of renal abnormalities in neonates and infants who have no history of urinary tract infections. Debates have centered on the etiology of this renal abnormality , congenital reflux nephropathy; regarding whether it is the result of abnormal ureteral budding or of back pressure effect from sterile reflux. We examined the renal pathology of fetuses with urethral obstruction and vesicoureteral reflux, and we suggest herein a possible etiology of congenital reflux nephropathy. Methods: The renal pathology of seven autopsied fetuses with vesicoureteral reflux was studied. Reflux was demonstrated at autopsy by slow injection of contrast medium into the bladder. Severe urethral obstruction, either atresia or urethral valves, was evident in six of the subjects. Results: In six subjects, abnormality of the urinary tracts was detected by prenatal ultrasonography. Of these six subjects, three revealed characteristics of prune belly syndrome. Reflux was graded as moderate in five subjects, and severe in two. In three subjects autopsied at 21 weeks gestation or earlier, the kidneys were well-developed with normal corticomedullary configuration, and nephrogenesis was retained. In three cases autopsied at over 25 weeks of gestation, the kidneys were grossly cystic, and the nephrogenic zone was completely absent. Contrast medium was observed not only in the dilated ducts and tubules, but also in the subcapsular cysts. Extravasation of the contrast medium was seen in the peritubular space. In the last subject with normal lower urinary tract, abnormal segments among normal cortical structures were observed. Conclusion: Our findings of renal pathology in fetuses with reflux are quite similar to those seen in fetal hydronephrosis. Back pressure from reflux probably damages the developing kidney leading to a degeneration of the ampullae and a reduction in the number of nephrons. Both dilatation of the collecting ducts and tubules, and extravasation of the urine may result in interstitial fibrosis. We postulate that one of the important etiologies of congenital reflux nephropathy may be the result of back pressure from sterile reflux. [source] | ||||||||||||||||||||||||||||||||||||||||