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PubMed2003

Teratogenic effects of suramin on the chick embryo.

Suramin, a polysulfonated naphthylamine, has been used for the chemotherapy of trypanosomiasis and onchocerciasis since about the 1920s. Currently, it is also being tested as an anticancer agent. It is hoped that suramin might stop the progression of some kinds of cancer since it has been found to inhibit the proliferation and migration of cells and the formation of new blood vessels. These processes are not only essential for the development and progression of cancer, but also for normal embryonic development. Suramin might, therefore, be a potent teratogen. In the literature, however, we have found only scant information on this subject. In the present study, we demonstrate the teratogenic effects of suramin on chick embryos. Suramin was injected into the coelomic cavity of chick embryos on incubation day (ID) 3. Following reincubation until ID 8, suramin-treated embryos ( n=50) were examined for congenital malformations and compared with a control group ( n=30). The survival rate of suramin-treated embryos was markedly reduced compared with controls (50% vs 90%). Among the 25 survivors the following malformations were recorded: caudal dysgenesia (100%), median facial clefts with hypertelorism (92%), malformations of the aortic arch arteries (88%), hypo-/aplasia of the allantoic vesicle (84%), microphthalmia (52%), abnormalities of the great arterial trunks (44%), unilateral or bilateral cleft lips (40%), heart defects with juxtaposition of the right atrial appendage (36%), persistence of the lens vesicle (32%), median clefts of the lower beak (8%), omphalocele (4%), and cloacal exstrophy (4%). These results show that suramin is a potent teratogen. The possible implications of our findings for human beings and the possible teratogenic mechanisms of suramin are discussed. Use of suramin in experimental teratology might help to clarify the morphogenesis of median facial clefts and of some congenital heart defects.

Animals↗
PubMed1991

Symptomatic congenital lesions of the alimentary tract in adults.

Congenital anomalies of the alimentary tract can evade detection into adulthood because they cause only moderate symptoms or they escape purview of a prepared observer. In other instances, evolution or copathogenesis may need to occur before the lesions become manifest. We have managed 17 of these patients presenting at ages 23 to 71 years. The median duration of symptoms was 5 years, ranging from 1 months to 23 years. Defects of foregut embryogenesis predominated (71%). We were able to establish the correct diagnosis before operating on nine patients, but three had already had a previous celiotomy for the same problem so a truly preoperative diagnosis was possible in only six (35%). The literature validates the dominance of foregut anomalies in adults. There is no older age limit that would exclude consideration of these lesions. Endoscopy, computerized tomography, and ultrasonography have greatly facilitated recognition, but our experience suggests that the principal obstacle to timely diagnosis is the reluctance to consider a congenital cause for an adult's symptoms.

Adult↗
PubMed1987

Sirenomelia in a twelve weeks abortus.

The anatomical findings of sirenomelia in a 12-weeks aborted embryo are reported. The occurrence of sirenomelia in material from spontaneous abortions is discussed.

Abnormalities, Multiple↗
PubMed2006

Situs anomalies and gastrointestinal abnormalities.

BACKGROUND/PURPOSE: The aim of the study was to review the gastrointestinal abnormalities occurring in association with situs anomalies. METHODS: Patients with situs anomalies were identified from the medical records of pediatric patients of Seoul National University Children's Hospital from January 1980 to July 2004. Retrospective study was undertaken. Diagnosis was made on the basis of the information obtained from a combination of echocardiography, angiography, abdominal ultrasonography, liver scan, upper gastrointestinal study, or abdominal computed tomography. RESULTS: A total 67 patients diagnosed as having situs anomalies were identified. There were 40 males and 26 females (1.54:1). Of these 67 patients, 45 patients (67%) were diagnosed as having situs inversus, 16 patients (24%) as having right isomerism, and 6 patients (9%) as having left isomerism. Of 45 patients with situs inversus, there were 26 patients (58%) who had intraabdominal abnormalities. These were duodenal atresia, biliary atresia, gastroschisis with malrotation, congenital hepatic fibrosis, tracheoesophageal fistula (type C), Currarino's triad, and pheochromocytoma. Of 16 patients with right isomerism, there were 14 patients (88%) who had intraabdominal abnormalities. These were hiatal hernia and diaphragmatic hernia. Of 6 patients with left isomerism, there were 4 patients (67%) who had intraabdominal abnormalities. These were malrotation and biliary atresia. CONCLUSION: When a patient is noted to have congenital heart disease as part of situs anomalies, or if an atypical position of organs is noted at imaging evaluation, we recommend that the patient undergo chest radiography, abdominal ultrasonography, upper gastrointestinal study, and abdominal computed tomography.

Abnormalities, Multiple↗
PubMed1999

Hirschsprung disease and other enteric dysganglionoses.

Hirschsprung disease has become a paradigm for multigene disorders because the same basic phenotype is associated with mutations in at least seven distinct genes. As such, the condition poses distinct challenges for clinicians, patients, diagnostic pathologists, and basic scientists, who must cope with the implications of this genetic complexity to comprehend the pathogenesis of the disorder and effectively manage patients. This review focuses on the anatomic pathology, genetics, and pathogenesis of Hirschsprung disease and related conditions. The nature and functions of "Hirschsprung disease genes" are examined in detail and emphasis is placed on the importance of animal models to this field. Where possible, potential uses and limitations of new data concerning molecular genetics and pathogenesis are discussed as they relate to contemporary medical practices.

Animals↗
PubMed2000

Prenatal zidovudine use and congenital anomalies in a medicaid population.

OBJECTIVES: To examine the association of prescribed zidovudine (ZDV) during pregnancy with congenital anomalies in a population-based cohort. METHODS: Medicaid claims were used to assess prescribed ZDV and children's major congenital anomalies in 1932 liveborn deliveries from 1993 to 1996 to HIV-infected women in the state of New York (NYS), U.S.A. Prevalence of anomalies in the cohort was compared with that of a general NYS population. Within the cohort, adjusted odds of any anomaly were compared by receipt of ZDV and by trimester of first prescription. RESULTS: The adjusted prevalence of any anomaly in the study cohort was 2.76 times greater than in the general population (95% confidence interval [CI], 2.36-3. 17). Children of study women who were prescribed ZDV had increased adjusted odds of any anomaly (adjusted odds ratio [OR], 1.55; 95% CI, 1.01-2.29). Adjusted ORs (with CIs) by trimester of first prescription were 1.20 (0.58-2.51), 1.47 (0.85-2.55), and 1.84 (1. 04-3.25) for the first, second, and third trimesters, respectively. CONCLUSION: Children of HIV-infected women in this cohort had a greater prevalence of major anomalies than did the general NYS population. An increased risk of major anomalies was not evident for first trimester exposure when the association would have been most biologically plausible.

Abnormalities, Drug-Induced↗
PubMed1983

Multiple hereditary gastrointestinal atresias: study of a family.

Two siblings with multiple gastrointestinal atresias, from stomach to rectum, are reported. The pathological findings obtained from surgical material and complete autopsies are stressed. This syndrome, first described in 1973, presents a unique combination of clinical, radiologic and pathologic findings and is probably secondary to a malformative process taking place early in intrauterine life and effecting the whole gastrointestinal tract.

Abnormalities, Multiple↗
PubMed1992

Acrorenal syndrome: further observations.

A 23-year-old female patient with the acrorenal syndrome is described. In addition to acral and renal malformations, she had anomalies of the gastrointestinal and genital tracts. An annular pancreas had caused duodenal obstruction and had been associated with malrotation of the bowel. Secondary sexual characteristics were absent; no ovaries were identified by pelvic ultrasound, and endocrine investigations were compatible with non-functioning ovaries.

Abnormalities, Multiple↗