Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Digestive System Abnormalities”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 613 records · Page 34Linked to original sources
PubMed2003

Intestinal neuronal dysplasia.

Intestinal neuronal dysplasia (IND) is a clinical condition that resembles Hirschsprung's disease. In the past many years investigators have raised doubts about the existence of IND as a distinct histopathologic entity. One strong piece of evidence that IND is a real entity stems from animal models. Recently, two different HOX11L1 knockout mouse models and a heterozygous endothelin B receptor-deficient rat demonstrated abnormalities of the submucous plexus similar to that observed in human IND. This review describes in detail the diagnostic criteria of IND, staining techniques, correlation between histological findings and clinical symptoms, and management of IND.

Biopsy↗
PubMed2005

The histopathology of congenital pouch colon associated with anorectal agenesis.

The colonic pouch excised during surgery in 17 patients with congenital pouch colon associated with anorectal agenesis (CPC) was subjected to detailed histological examination after staining with hematoxylin and eosin. The patients included 11 newborns, 3 infants, and 3 older children. The most frequently observed abnormalities were acute and chronic inflammation of the mucosa and submucosa, focal or generalized thinning of muscle layers, especially of the outer muscle coat, disorganized muscle layers, a decreased number of mature ganglion cells, and neuronal hyperplasia and hypertrophy in nerve plexuses. Ectopic heteroplastic tissues were identified in 2 patients. These findings suggest that the colonic pouch in CPC represents abnormally developed colonic tissue and points to the similarity with segmental dilatation of the colon. The neuromuscular abnormalities explain the physiological characteristics of the colonic pouch, namely weak peristalsis as well as the propensity to undergo marked dilatation even after tubularization.

Child, Preschool↗
PubMed2005

Dihydropyrimidine dehydrogenase deficiency presenting at birth.

Dihydropyrimidine dehydrogenase (DPD) deficiency (McKusick 274270) is a clinically heterogeneous autosomal recessive disorder of pyrimidine metabolism. DPD is the enzyme that catalyses the first and the rate-limiting step in the catabolism of uracil, thymine and the analogue 5-fluorouracil. To date, more than 30 patients have been diagnosed with a complete enzyme deficiency. Here, we describe the fifth case with a complete DPD deficiency presenting at birth with severe neurological abnormalities. The patient was homozygous for the common splice-site mutation IVS14+1G > A.

Age of Onset↗
PubMed1990

Fetal gastrointestinal abnormalities.

A wide range of abnormalities of the fetal gastrointestinal tract is currently detectable by antenatal sonography, but the sonographic appearance of normal fetal bowel is variable, with considerable overlap between normal and abnormal patterns. In examining the major gastrointestinal disorders that may be recognized by in utero sonography, this article emphasizes potential pitfalls due to confusion with normal anatomic variants and pathologic processes arising elsewhere in the fetus.

Abdominal Muscles↗
PubMed2006

Bronchopulmonary foregut malformation in association with diaphragmatic eventration.

Bronchopulmonary foregut malformations are uncommon anomalies, and their association with diaphragmatic eventration is rare. This report presents 2 cases with this association. Embryologically, a simultaneous disturbance in the development of pulmonary vessels and developing esophagotracheal septum may explain the etiopathogenesis of this association. Abnormal budding along the developing foregut tube may lead to foregut cysts. In both cases, the bronchopulmonary foregut malformations were excised, and the diaphragm was repaired. The results of surgery were gratifying in both cases.

Bronchopulmonary Sequestration↗
PubMed2006

Occult neurovesical dysfunction with anorectal malformations.

OBJECTIVE: To evaluate for the occurrence of occult NVD in children with anorectal malformations (ARM) using urodynamic evaluation. METHODS: This prospective study was carried out on children with ARM prior to and following definitive procedure. Urodynamic studies were performed on the Phoenix Griffon machine (Albyn Medical) using Phoenix plus software. RESULT: Nineteen children in the age range of 3 months to 156 months (mean = 19.2) were included in this study. Among these 19 children 13 underwent re-evaluation after definitive surgery for ARM. There were 11(57.9%) males and 8(42.1%) females. Of the 19 children 14 (73.7%) were cases of high anorectal malformation (HARM) and 5 (26.3%) were cases of low anorectal malformation (LARM). Baseline evaluation done in 19 children revealed seven urodynamic patterns: Normal capacity, compliant without uninhibited contractions (UIC) (21.1%); Normal capacity, compliant with UIC (5.3%); Normal capacity, poorly compliant without UIC (5.3%); Normal capacity, poorly compliant with UIC (10.5%); small capacity, compliant with UIC (5.3%); Small capacity, poorly compliant with UIC (26.3%) and large capacity, complaint with UIC (26.3%). Thirteen patients were evaluated post operatively also and in only 23% (3 of 13) no change in urodynamic pattern were observed. In the remaining 76.9% (10 of 13) some changes in urodynamics pattern were observed. The deleterious changes observed were appearance of UIC in 30.8% (4 of 13), decrease in the bladder capacity in 23% (3 of 13) and decrease in bladder compliance in 15.4% (2 of 13). CONCLUSION: Only 9 of of the 19 patients had normal urodynamics pre-operatively and post-operatively 3 more patients worsened. Incidence of occult NVD is high in patients with ARM even in the absence of clinical and radiological evidence of vertebral or lower urinary tract abnormalities. Though there seems to be a high incidence of changes in the neurovesical functions of these patients following definitive corrective surgery for ARM only time will show whether this has any deleterious effect on the upper tracts.

Anal Canal↗
PubMed1976

Omphalocele.

From a historical curiosity at the turn of the century, today omphalocele and gastroschisis can be corrected with good results, thanks to innovative techniques and better understanding of the newborn. Associated anomalies consist mainly of malrotation, Meckel's diverticulum, intestinal atresia, congenital heart defects, and genitourinary abnormalities. Nonoperative management in certain centers has been sucessful for the very large omphaloceles with an intact sac; however, a secondary procedure is necessary. In the past 10 years, the use of Silastic sheeting and total parenteral nutrition has allowed early repair of even the most severe cases, with excellent end results and low mortality.

Digestive System Abnormalities↗
PubMed1997

Prenatal ultrasound diagnosis of gastrointestinal malformations.

Prenatal ultrasonography is commonly used to detect fetal structural abnormalities. The aim of this study was to evaluate the reliability of fetal sonography in the detection of congenital gastrointestinal malformations (GIM). From a prospective database of all major structural fetal anomalies detected by ultrasound over 3 years in a region with a population of 3.5 million and an annual birth rate of 52,000, 294 reports of GIM were identified and reviewed. There were 220 confirmed cases of GIM, of which only 35 (16%) had been correctly identified prenatally. Of 84 prenatal diagnoses of GIM, only 35 (42%) were confirmed postnatally. Prenatal ultrasound was most reliable in the detection of duodenal obstruction (55% confirmed cases identified prenatally) and least reliable in malformations of the hindgut. Of 44 cases of nonspecific sonographic bowel abnormality (eg, echogenic bowel) with adequate follow-up, only 12 (27%) had a confirmed GIM after delivery. This study demonstrates that the prenatal ultrasound scan is still unreliable in the detection or exclusion of fetal GIM, and consequently clinicians involved in prenatal sonography or counselling should exercise caution in making such diagnoses.

Digestive System Abnormalities↗
PubMed1999

Embryogenesis of pancreaticobiliary maljunction inferred from development of duodenal atresia.

The embryogenesis of pancreaticobiliary maljunction is inferred from the embryogenesis of duodenal atresia. The epithelial cells of the duodenum begin to proliferate and completely plug the lumen, but a process of vacuolation recanalizes the duodenum. Recanalization of the common duct frequently appears with two lumina and openings into the duodenum with two orifices. These two major canals create a narrow segment of the duodenum and this narrow zone is the area in the duodenum that is most prone to faulty recanalization and atresia formation. A bifid biliary system inserts at blind upper and lower pouches of the duodenum, and the common bile duct inserts in a Y fashion. The common bile duct inserts at the stenotic segment, and the end result is a T-shaped formation in patients with duodenal stenosis. During the development of the bile duct, abnormal fusion may occur between the bile duct and branches of the right ventral pancreatic duct. The site in the bile duct where a branch of the pancreatic duct joins is likely to develop atresia due to disturbance of the recanalization process, as seen in duodenal atresia. Severe impairment of vacuolation causes divided atretic bile duct at the site where the pancreatic duct inserts in a Y-fashion into the upper and lower bile duct. Moderate impairment of vacuolation causes a stenosis at the site where the pancreatic duct inserts in a T-shape, with a moderate dilatation of the bile duct.

Choledochal Cyst↗
PubMed1998

Classifying complex pediatric feeding disorders.

BACKGROUND: This study defines the multiple characteristics associated with complex pediatric feeding problems and determines the relative frequency of each classification in a population referred to an interdisciplinary feeding team. METHODS: The written reports from team evaluations on 103 children (64 males, 39 females; age range 4 months to 17 years) were reviewed. Prematurity and/or presence of developmental delay was coded. Identified factors related to current feeding problems were coded according to five categories: structural abnormalities, neurological conditions, behavioral issues, cardiorespiratory problems, metabolic dysfunction. RESULTS: Interrater reliability for the classification coding was 88%. Thirty-eight percent of the children had a history of pre- maturity and 74% were reported to have evidence of developmental delay. The following five categories or combinations were coded most frequently: structural-neurological-behavioral (30%), neurological-behavioral (27%), behavioral (12%), structural-behavioral (9%), and structural-neurological (8%). Overall, behavioral issues were coded more often (85%) than neurological conditions (73%), structural abnormalities (57%), cardiorespiratory problems (7%), or metabolic dysfunction (5%). CONCLUSIONS: Data analysis using this classification system revealed that the majority of children in this sample had a behavioral component to their complex feeding problem, regardless of concurrent physical factors. These findings suggest that complex pediatric feeding problems are biobehavioral conditions in which biological and behavioral aspects mutually interact, and both need to be addressed to achieve normal feeding.

Adolescent↗
PubMedDate not supplied

Congenital anomalies of the upper gastrointestinal tract.

A wide spectrum of congenital anomalies may affect the upper gastrointestinal tract, including anomalies of the esophagus (e.g., atresia, fistulas, webs, duplications, vascular rings), stomach (e.g., congenital gastric outlet obstruction, duplications), and duodenum (e.g., atresia, annular pancreas, duplications, malrotation). The evaluation of affected patients can require multiple imaging modalities for diagnosis and surgical planning. Radiography is often diagnostic and specific and can usually provide important clues to help determine the optimal diagnostic procedure. Neonates with complete gastric or upper intestinal obstruction do not usually require further radiologic evaluation after radiography: Barium studies are usually contraindicated, and complementary procedures (e.g., ultrasound [US], computed tomography [CT]) are not usually helpful and may even delay surgery, resulting in death. Nevertheless, US has become important in the evaluation of the pediatric gastrointestinal tract and is being used in an increasing number of applications. CT and magnetic resonance imaging are unsuitable for general screening but provide superb anatomic detail and added diagnostic specificity. They are especially useful in demonstrating esophageal duplications and vascular rings as well as associated abnormalities. However, the decision to perform a given imaging examination should be considered carefully to avoid inconvenience or unnecessary radiation exposure to the patient or delays in surgical correction. Quality control programs should be in place to ensure safe, effective radiologic practice through use of up-to-date equipment and good imaging technique.

Diagnostic Imaging↗
PubMed1993

Clinical variability within Brachmann-de Lange syndrome: a proposed classification system.

Seven patients, including two sibs, with the Brachmann-de Lange syndrome (BDLS) are presented as representative of the different types of BDLS in a proposed classification system. Type I ("classic") patients have the characteristic facial and skeletal changes of BDLS using the criteria in the diagnostic index of Preus and Rex. Type I is distinguished from the other subtypes by prenatal growth deficiency (< 2.5 S.D. below mean for gestation) becoming more severe postnatally (< 3.5 S.D. below the mean), moderate to profound psychomotor retardation, and major malformations which result in severe disability or death. Type II ("mild") BDLS patients have similar facial and minor skeletal abnormalities to those seen in type I; however, these changes may develop with time or may be partially expressed. Patients with type II BDLS are distinguished from those with other types by mild to borderline psychomotor retardation, less severe pre- and postnatal growth deficiency, and the absence of (or loss severe) major malformations. Behavioral problems can be a significant clinical problem in type II BDLS. Type III ("phenocopies") BDLS includes patients who have phenotypic manifestations of BDLS which are causally related to chromosomal aneuploidies or teratogenic exposures.

Adolescent↗
PubMed1992

Value of routine ultrasound scanning at 19 weeks: a four year study of 8849 deliveries.

OBJECTIVE: To evaluate the effectiveness of routine ultrasound scanning at 19 weeks' gestation in an unselected population in terms of accuracy of detection of fetal structural abnormality and the effect on obstetric and neonatal care. DESIGN: Prospective study over four years. Scans performed by radiographers with overall supervision by a radiologist. SETTING: Ultrasound department of district general hospital. SUBJECTS: All pregnant women were offered scans; 8523 of 8849 (96%) accepted. MAIN OUTCOME MEASURES: Information obtained from hospital records, genetic analysis, and post-mortem findings. RESULTS: 166 fetal anomalies occurred; 140 were detected at 19 weeks (sensitivity 85%; specificity 99.9%). In 27 cases fetuses were shown to have severely crippling or lethal abnormalities; termination of pregnancy was requested in 25. Early diagnosis influenced timing and place of delivery in babies with severe cardiac or gastrointestinal anomalies. CONCLUSION: Scanning at 19 weeks with availability of termination can reduce perinatal morbidity and mortality. Scanning can be performed in a general ultrasound department with adequate counselling facilities and close cooperation between radiographers, midwives, obstetricians, paediatricians, and the radiologist.

Bone and Bones↗
PubMed2000

Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype.

Controversy exists over the distinction between cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome (NS). Several authors have suggested that they are different phenotypes of the same condition. We present the cases of two patients with CFC syndrome to show that it is a distinct condition with a unique combination of findings and a more complex natural history. These patients, both girls, were born with signs of fetal edema following pregnancies complicated by polyhydramnios. Each has short stature with relative macrocephaly; fuzzy, sparse hair; and the typical craniofacial features, including a square forehead. Both have heart abnormalities, failure to thrive, and severe feeding problems requiring gastrostomy. They are markedly hypotonic and developmentally delayed. They show signs of frequent eyelid fluttering and have oral aversion, tactile hypersensitivity, and sensory integration abnormalities. Keratosis pilaris, the characteristic skin symptom, is also present in both patients. In a review we identified 56 cases of CFC syndrome. We scored these cases by 10 clinical criteria and identified a subset with a specific, severe phenotype distinct from that of NS. The serious neurologic and gastrointestinal complications, in addition to the skin abnormalities and characteristic facies in this group, clearly separate these patients from the mildly affected ones, most of whom appear to have NS or another syndrome. We discuss the differences between the severe CFC phenotype and those of overlapping conditions. We set forth stringent diagnostic criteria for CFC syndrome, the initial step toward identifying a molecular basis for this condition.

Child, Preschool↗
PubMed1979

[Duplication of the digestive tract in adults. 5 cases (author's transl)].

Five cases of duplication of the digestive tract are reported: oesophagus, stomach, duodenum, and colon. These patients were adults, in whom it is rare (5% of cases) to find such duplications. Two types of image are seen on barium meal examination: opacification of a lumen which may be abnormally blind and which can be easily diagnosed if it is short, but is sometimes more difficult to individualize if the duplication is long (colon); or an extrinsic type of compression which is a part of the wall and much more difficult to diagnose. Knowledge of these different types of radiological images in adults should avoid precipitous investigations and orientate possible surgical interventions.

Adolescent↗
PubMed2000

Hedgehog signals regulate multiple aspects of gastrointestinal development.

The gastrointestinal tract develops from the embryonic gut, which is composed of an endodermally derived epithelium surrounded by cells of mesodermal origin. Cell signaling between these two tissue layers appears to play a critical role in coordinating patterning and organogenesis of the gut and its derivatives. We have assessed the function of Sonic hedgehog and Indian hedgehog genes, which encode members of the Hedgehog family of cell signals. Both are expressed in gut endoderm, whereas target genes are expressed in discrete layers in the mesenchyme. It was unclear whether functional redundancy between the two genes would preclude a genetic analysis of the roles of Hedgehog signaling in the mouse gut. We show here that the mouse gut has both common and separate requirements for Sonic hedgehog and Indian hedgehog. Both Sonic hedgehog and Indian hedgehog mutant mice show reduced smooth muscle, gut malrotation and annular pancreas. Sonic hedgehog mutants display intestinal transformation of the stomach, duodenal stenosis (obstruction), abnormal innervation of the gut and imperforate anus. Indian hedgehog mutants show reduced epithelial stem cell proliferation and differentiation, together with features typical of Hirschsprung's disease (aganglionic colon). These results show that Hedgehog signals are essential for organogenesis of the mammalian gastrointestinal tract and suggest that mutations in members of this signaling pathway may be involved in human gastrointestinal malformations.

Animals↗
PubMed1982

Maternal ultrasound in neonatal surgery.

Maternal ultrasound is commonly used for the evaluation and followup of pregnancy. Increasing experience in this field has led to the accurate sonographic description of both normal and abnormal fetal anatomy and to the antenatal diagnosis of increasing numbers of surgically correctable conditions. Antenatal diagnosis has the potential of greatly benefiting obstetrical care, the counseling and advising of parents, and perinatal surgical management. The use of intrauterine fetal surgery and/or manipulation may provide increased salvage of fetuses with diaphragmatic hernia and obstructive uropathy in the future. With the known safety and noninvasiveness of maternal sonography it may become a useful screening procedure for all pregnancies.

Digestive System Abnormalities↗
PubMed1994

Prenatal diagnosis and management of gastrointestinal anomalies.

The increased use of prenatal sonography has led to earlier and more frequent diagnosis of a wide range of gastrointestinal anomalies. Many of these anomalies are associated with other severe cardiac, renal, and genetic abnormalities that may impact on decisions regarding timing and site of delivery. The majority of these patients should be referred to a center that provides perinatal, neonatal, and pediatric surgical expertise. After a complete prenatal evaluation, a decision regarding the site of delivery and the need for subspecialty referral can be made. Prenatal diagnosis of the conditions discussed in this article does not influence the mode of delivery, but subsequent management of the newborn is improved by delivery in a tertiary care center.

Digestive System Abnormalities↗