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PubMedDate not supplied

Embryotoxicity and teratogenicity of cadmium chloride in Xenopus laevis, assayed by the FETAX procedure.

The embryotoxicity and teratogenicity of cadmium chloride (CdCl2) were tested by the FETAX (Frog Embryo Teratogenesis Assay: Xenopus) procedure in the South African frog, Xenopus laevis. In five assays, groups of Xenopus embryos were grown in media that contained CdCl2 at concentrations ranging from 0.75 to 56 mumol per L; control groups were incubated in the same medium without added CdCl2. The exposures to CdCl2 were begun at the blastula stage (five hours post-fertilization) and were terminated 96 hours later (101 hours post-fertilization). The embryos were counted, fixed in formalin, and examined by microscopy to score malformations and measure head-to-tail lengths. In control groups, greater than or equal to 95 percent of the embryos survived at 101 hours post-fertilization, and the incidence of malformations was less than or equal to 7 percent. In Cd(2+)-exposed groups, there was concentration-dependent mortality, and the embryos showed a concentration-related pattern of malformations, including gut malrotation, ocular anomalies, bent notochord, misshapen dorsal fin, facial dysplasia, cardiac deformities, and dermal blisters. Other abnormalities, not categorized as malformations, included stunted growth and hypopigmentation. The minimum concentration of CdCl2 that inhibited growth (MCIG) was 18 mumol per L. The median embryolethal concentration (LC50) of CdCl2 was 32 (SE +/- 4) mumol per L; the median teratogenic concentration (EC50) was 3.7 (SE +/- 1) mumol per L; the teratogenic index (TI = LC50/EC50) was 8.6. This study demonstrates that CdCl2 is teratogenic for Xenopus laevis and provides a standardized experimental model for studies of the molecular mechanisms of cadmium teratogenesis.

Animals↗
PubMed2003

The embryology of gut rotation.

Until today, the puzzling spectrum of midgut "malrotations" is commonly explained by an "impaired" process of rotation of the midgut. However, a closer look at the literature reveals that the description of this "process of rotation" is rather schematic and is aimed more at explaining pathological findings, while detailed proper embryological investigations are still rare. Despite recent trials, good animals models that would allow the comparison of normal and abnormal midgut development are still missing. In the first part of this article, the "normal process of rotation," as it is described in the literature, is presented and critically analyzed. In general, it is a shortcoming that reliable illustrations of these crucial embryological processes are missing in most of these papers. Therefore, in the second part of this review scanning electron microscopy pictures of the developing midgut are presented in a series of rat embryos. In these pictures clear signs of a process of rotation are missing.

Animals↗
PubMed1981

An examination of the birthweights of babies with some abnormalities of the alimentary tract.

The birthweights of patients with congenital anomalies of the intestinal tract have been examined. Cases of esophageal and duodenal atresia, malrotation of the midgut and anal anomalies have been chosen only if they were uncomplicated by any other major anomaly, and their weights plotted on the centile charts when the gestational age was known. The birthweights of cases of esophageal and duodenal atresia are clearly less than in cases of malrotation and anal malformation. This difference may be related to the function of the intestinal canal. Despite low birthweights in cases of esophageal atresia, the head circumference (OFC) shows a normal distribution.

Anal Canal↗
PubMed2000

Anorectal malformations in female children--10 years experience.

Despite enormous interest in the development of an ideal operative procedure to treat anorectal malformations, the situation is as confusing as it was 30 years ago. The reasons could be inconsistency of the nature of the lesions found in patients along with multi-system associated malformations primarily affecting the prognosis of available procedures. High imperforate anus is a complex anomaly that requires a combination of careful preservation of structures and precise anatomic reconstruction for optimal results. A retrospective study, comprising a consecutive sample of female children with anorectal malformations treated over a period of 10 years, is presented. Of 130 patients, 83% (n = 108) presented later than 3 months of age as they could pass stools through associated fistulae, of which the commonest type was found to be an ano- or recto-vestibular fistula (65%, n = 83). Ninety-four cases (72%) had what are traditionally known as "low" anorectal malformations (perineal fistulae, anteriorly placed anus and anorecto-vestibular fistulae). Ten percent (n = 14) had translevator, and 17% (n = 22) were found to have "high" lesions. Seventeen percent of patients (n = 22) had associated congenital malformations, predominantly in intermediate and high anorectal lesions, 40% of which pertained to the urogenital system. In total, 137 definitive operative procedures were done including Mollard's anterior perineal approach in 81 patients and posterior sagittal anorecto plasty (PSARP) in 38, enabling a comparison to be made of the functional results and complications in the two groups. Out of 24 post-operative complications noted in the series, 17 were found in the group who had Mollard's procedure carried out (including 3 deaths) as compared with 7 in these cases who had PSARP (two-sided P utilizing Fisher's exact test = 0.475).

Anal Canal↗
PubMed1995

Foregut duplication cyst: a report of a case.

During the early embryonal stage of foregut development, malformations may be encountered. Foregut duplications are considered to be due to abnormal cannulization of the gastrointestinal tract and may be communicating or non-communicating cystic or tubular. They are lined by mucosal membrane. The case herein records the first instance of a foregut duplication cyst that contained both gastric and bronchial mucosa. The patient was a 35-year-old female complaining of epigastric pain and nausea for the past several months. Physical examination revealed no abnormal findings, but an upper gastrointestinal X-ray series demonstrated an irregularity of the greater curvature of the stomach. On CT scan, a left upper quadrant mass was noted. At laparotomy, a soft, retroperitoneal mass was seen between the stomach and the left adrenal gland, measuring 5.5 x 2.5 x 2 cm. It was excised and sent for histopathology. Pathology showed the mass to be of a cystic nature, containing both gastric and bronchial mucosa. After surgery the patient made an uneventful recovery.

Adult↗
PubMed2000

Gastrointestinal disorders of the fetus.

The approach to developing a differential diagnosis to an abnormal gastrointestinal ultrasound finding should include consideration of the lesion's location, size, shape, and echogenicity; fetal gender; relationship to and understanding of adjacent structures; and the presence of associated anomalies. Once a differential diagnosis has been established, ancillary testing, such as amniocentesis, maternal serology, or fetal echocardiography should be undertaken to refine further the diagnosis. A multidisciplinary team approach should be taken in the prenatal management of a suspected fetal anomaly. This may include collaboration with specialists in the fields of perinatology, prenatal ultrasound, genetic counseling, neonatology, pediatric surgery, and patient support groups.

Diagnosis, Differential↗
PubMed1999

[Radiologic diagnosis of congenital anomalies of the digestive tract].

UNLABELLED: The aim of the study is to analyze the frequency of the congenital anomalies of the digestive tract in the period of 1993-1998. The patients and methods: Our group included 67 patients (47 males and 20 females; age range 1-12 months) suspected of digestive tract anomalies. First, all of them have been examined by pediatric surgeon. At the first place, we used the most conventional radiological procedures for digestive tract examination. They were followed by US in cases with suspicion on hypertrophic pyloric stenosis and biliary atresia (bile-duct atresia). CT and MR were performed in patients with anorectal anomalies. In cases with suspected associated anomalies of other organs, intravenous urography and chest radiography were used. RESULTS: Congenital anomalies and abnormalities of the digestive tract were diagnosed in 25 patients. The most frequent anomaly was hypertrophic pyloric stenosis (n = 14), followed by invagination (n = 12) and megacolon congenitum (n = 9), all predominant in male sex. All radiological findings we confirmed at surgery (100%). CONCLUSION: Conventional radiology is still extremely useful in the diagnosis of the digestive tract anomalies; also US revealed to be essential in the diagnosis of the hypertrophic pyloric stenosis and the intestinal invagination. Recognition of the associated anomalies should lead to application of the other examination techniques like CT and MR. MR might be useful in the anorectal malformations and hepatobiliary tract anomalies, but we have no experience in that field, till now.

Digestive System Abnormalities↗
PubMed1993

Gastrointestinal abnormalities: a significant cause of feeding difficulties and failure to thrive in Brachmann-de Lange syndrome.

Gastroesophageal abnormalities occur with increased frequency in patients with Brachmann-de Lange syndrome (BDLS) and contribute to problems with feeding, emesis and failure to thrive. Comprehensive evaluation including longitudinal assessment of growth and development of 8 patients with BDLS was performed. Clinically significant feeding problems occurred in 6 of the 8 patients and the affected children were subsequently evaluated for gastrointestinal abnormalities. Findings in these patients included tracheal aspiration, esophageal dysmotility, gastroesophageal reflux, hiatal hernia, and esophagitis. Medical treatment was instituted where appropriate, and surgical treatment was performed if the problems did not resolve with medical treatment. Improvement in weight centiles occurred in all patients fed by nasogastric or feeding gastrostomy tube but only one patient appeared to experience increase in rate of linear growth. Careful monitoring of symptoms and growth parameters, and prompt institution of appropriate medical and surgical measures can improve the health and physical outcome of many patients with BDLS.

Child, Preschool↗
PubMed2003

Duct drainage alone is sufficient in the operative management of pancreatic pseudocyst in patients with chronic pancreatitis.

OBJECTIVE: To test a hypothesis that definitive management of pseudocyst associated with chronic pancreatitis is predicated on addressing pancreatic ductal anatomy. SUMMARY BACKGROUND DATA: The authors have previously confirmed the impact of pancreatic ductal anatomic abnormalities on the success of percutaneous drainage of pancreatic pseudocyst. The authors have further defined a system to categorize the pancreatic ductal abnormalities that can be seen with pancreatic pseudocyst. The authors have published, as have others, the usefulness of defining ductal anatomy when managing pancreatic pseudocysts associated with chronic pancreatitis. METHODS: Beginning in 1985, all patients with pseudocyst who were candidates for intervention (operative, percutaneous, or endoscopic) have undergone endoscopic retrograde cholangiopancreatography (ERCP). An associated diagnosis of chronic pancreatitis was established by means of ERCP findings. Patients were candidates for longitudinal pancreaticojejunostomy (LPJ) if they had a pancreatic ductal diameter greater than 7 mm. In a nonrandomized fashion, patients were managed with either combined simultaneous LPJ and pseudocyst drainage or with LPJ alone. RESULTS: Two hundred fifty-three patients with pseudocyst have been evaluated. Among these there have been 103 patients with chronic pancreatitis and main pancreatic duct (MPD) dilatation (>7 mm). Among these 103 patients, 56 underwent combined LPJ/pseudocyst drainage and 47 had LPJ alone. Compared to combined LPJ/pseudocyst drainage, the patients undergoing LPJ alone had a shorter operative time, slightly less transfusion requirement, slightly reduced length of hospital stay, and slightly reduced complication rate. Long-term pain relief was achieved in 90%, and pseudocyst recurrence was less than 1%. Rates of each of these long-term outcomes were nearly incidental among the two groups. CONCLUSIONS: Ductal drainage alone (LPJ) is sufficient in patients with chronic pancreatitis (MPD > 7 mm) and an associated pseudocyst. Simultaneous drainage of pseudocyst is not necessary.

Cholangiopancreatography, Endoscopic Retrograde↗
PubMed1996

Renal and neuronal abnormalities in mice lacking GDNF.

Glial cell-line derived neurotrophic factor (GDNF) is a potent survival factor for embryonic midbrain dopaminergic, spinal motor, cranial sensory, sympathetic, and hindbrain noradrenergic neurons, and is available to these cells in vivo. It is therefore considered a physiological trophic factor and a potential therapeutic agent for Parkinson's disease, amyotrophic lateral sclerosis, and Alzheimer's disease. Here we show that at postnatal day 0 (P0), GDNF-deficient mice have deficits in dorsal root ganglion, sympathetic and nodose neurons, but not in hindbrain noradrenergic or midbrain dopaminergic neurons. These mice completely lack the enteric nervous system (ENS), ureters and kidneys. Thus GDNF is important for the development and/or survival of enteric, sympathetic and sensory neurons and the renal system, but is not essential for catecholaminergic neurons in the central nervous system (CNS).

Animals↗
PubMed1997

The mesenchymal winged helix transcription factor Fkh6 is required for the control of gastrointestinal proliferation and differentiation.

The winged helix transcription factor Fkh6 is expressed in the mesoderm of the gastrointestinal tract directly adjacent to the endoderm-derived epithelium. Homozygous null mice for Fkh6 showed postnatal growth retardation secondary to severe structural abnormalities of the stomach, duodenum, and jejunum. Dysregulation of epithelial cell proliferation in these organs resulted in an approximately fourfold increase in the number of dividing intestinal epithelial cells and marked expansion of the proliferative zone. As a consequence, the tissue architecture of the stomach and small intestine was distorted, with abnormal crypt structure, formation of mucin filled cysts, and lengthening of villi. Changes in the cellular phenotype and composition of the gastric and intestinal epithelia also suggests that epithelial cell-lineage allocation or differentiation may be affected by loss of Fkh6. From the analysis of a number of potential signaling molecules, we found Bmp2 and Bmp4 expression reduced in the gastrointestinal tract of Fkh6 mutant mice, suggesting that Fkh6 directs a signaling cascade that mediates communication between the mesenchyme and endoderm of the gut to regulate cell proliferation.

Animals↗
PubMed1986

Down's syndrome and the gastrointestinal tract.

Gastrointestinal (GI) abnormalities are frequent in patients with Down's syndrome. In a 12-year retrospective review, we identified 187 patients with Down's syndrome admitted to the Columbia-Presbyterian Medical Center. Twenty-seven had major GI disorders, the most common being duodenal stenosis (DS, nine), gastroesophageal reflux (GER, five), imperforate anus (five), and Hirschsprung's disease (four). The mortality for the whole group was 11% (20 patients). The mortality in the small group of patients with duodenal stenosis was particularly high (five out of nine, or 56%). Associated congenital heart disease, especially endocardial cushion defects, and the frequent occurrence of pneumonia contributed to this high mortality rate.

Adolescent↗
PubMed2003

Phenotype of the Triplo-lethal locus of Drosophila melanogaster and its suppression by hyperoxia.

The Triplo-lethal locus (Tpl) of Drosophila is both triplo-lethal and haploinsufficient, but the function of the locus is unknown. We have examined Tpl-aneuploid embryos and find that, in both trisomics and monosomics, the midgut shows extensive cell death and the tracheae are abnormal. Shortly thereafter, all tissues die. PCR-based genotyping of individual embryos and larvae show that this phenotype occurs in the trisomics after hatching and in the monosomics before hatching. Weak alleles of the interacting gene Su(Tpl) delay the death of Tpl trisomics, but they still show the same tracheal and midgut phenotypes before dying. Hyperoxia (45% oxygen) partially suppresses the phenotype of Tpl aneuploids, even though the use of a hypoxia reporter strain shows that dying Tpl aneuploids are not hypoxic. This is the first report of a phenotype associated with the Tpl locus and the first report of an environmental condition that suppresses the phenotype.

Animals↗
PubMedDate not supplied

The case of acute appendicitis and appendiceal duplication.

BACKGROUND: Appendiceal anomalies are extremely rare malformations that are usually found in the adult population as an incidental finding during laparotomy performed for other reasons. Abnormal development of the appendix usually takes the form of a double appendix. Accompanying intestinal, genito-urinary or vertebral malformations may be present when appendiceal duplications are detected in childhood. CASE REPORT: Presented herein is a case of perforated double appendix, which causes acute abdomen in a child, without any co-existing pathology. CONCLUSION: Appendiceal anomalies are of great practical importance and a surgeon must bear them in mind during an operation. If he overlooks them, the patient undergoing surgery may experience grave consequences. They also may be a forensic issue in cases when a second explorative laparotomy reveals 'previously removed' vermiform appendix.

Adolescent↗
PubMed1989

[Xipho-omphalopagus--Siamese twins with multiple abnormalities of the gastrointestinal tract].

The authors describe a case of xiphoomphalpagus; one infant was dead, the other alive. They had a common umbilical cord and omphalocele, joined liver, only one gallbladder and common duodenum in the shape of a wide sac. From this originated two thin guts, one was wide and belonged to the dead foetus, the gut of the live foetus beneath the duodenum was atretic. Already six hours after delivery the authors separated the infants and in the live infant they not only resected the liver and reinserted the choledochus but also repaired the wide duodenum and atresia. The second infant died on the 4th day after operation from congenital heart disease incompatible with life. The stillborn infant has, as revealed by necropsy and histological examination, a congenital megacolon. The authors analyze the scope of diagnostic and surgical possibilities.

Digestive System Abnormalities↗
PubMedDate not supplied

Chevalier Jackson lecture. Respiratory and alimentary relations in staged human embryos. New embryological data and congenital anomalies.

The early development of the digestive and respiratory systems is summarized in relation to embryonic staging. It has frequently been emphasized that the digestive and respiratory tubes do not arise from a common chamber, that they pursue separate courses as soon as the lung bud appears, that a mesenchymal septum comes to intervene between them, and that the two tubes rapidly acquire independent outer coats. Some commonly held views such as the supposed caudorostral separation of the trachea from the esophagus, have been shown to be incorrect. These ideas often arose from the use of unstable landmarks during development. It is pointed out that, for 3 weeks after its appearance, the tracheoesophageal separation point remains at a constant level, whereas the tracheal bifurcation descends. The application of valid embryological data to the interpretation of several congenital anomalies has been shown to be of value. Although the modes of origin in some instances are still obscure, considerable advance has been made in understanding the timing of the relevant events.

Congenital Abnormalities↗
PubMed1955

Megaloblastic anemia, associated with surgically produced gastrointestinal abnormalities.

Two of the mechanisms for vitamin B(12) deficiency, leading to megaloblastic anemia, are the result of surgically produced abnormalities of the gastrointestinal tract. The basic mechanism is different for each lesion. Total gastrectomy results in complete lack of intrinsic factor which is necessary for vitamin B(12) absorption. It is believed that if patients survive long enough and are not given prophylactic vitamin B(12) therapy, all would develop megaloblastic anemia. Intestinal anastomosis leading to stasis of intestinal contents, with overgrowth of bacteria may cause vitamin B(12) deficiency through bacterial interference with the utilization of vitamin B(12). Use of radioactive vitamin B(12) (cobalt(60)-labeled B(12)) has led to a better understanding of the pathogenesis of both types of megaloblastic anemia. The radioactive vitamin provides a useful tool for study of its absorption from the gastrointestinal tract.

Anastomosis, Surgical↗
PubMed2006

Duodenal duplications. Clinical characteristics, embryological hypotheses, histological findings, treatment.

BACKGROUND: The aim of this study was to analyse different clinical aspects and embryologic hypotheses of duodenal duplications. METHODS: Duodenal duplications occurring since 1995 were recorded. The age of the children at the time of diagnosis, the sex, location of the duplication, type of mucosa, clinical signs, associated lesions, and the type of surgical intervention were defined. RESULTS: We identified 5 patients (3 girls and 2 boys) who presented with histological or intraoperative findings of duodenal duplication. Their ages ranged from 4 days to 9 years, with the exception of two prenatal diagnoses. Three children were symptomatic: high intestinal obstruction (1 case), digestive bleeding (2 cases). In 1 case we found a palpable abdominal mass and 1 case was completely asymptomatic (prenatal detection). The abnormality was located on the duodenal concavity, originating from the third part in 2 cases and from the second part in 3 cases. All cases were non communicating types, 4 of which were cystic duplications and 1 was a tube-like variety. The epithelial lining was duodenal mucosa in all patients, but gastric heterotopies were identified in 2 cases. We performed two complete resections and 3 intraduodenal derivations. The outcome was uneventful in 5 cases with an average follow-up of 2 years. CONCLUSION: Duodenal duplications are rare malformations with several anatomical varieties. The preferred treatment for duodenal duplications is complete removal when the location allows it without endangering nearby anatomical structures.

Child↗