Prenatal diagnosis of enterolithiasis: a sign of fetal large bowel obstruction.
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Biomedical subjects
Publications and source records attributed to F Qureshi.
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Constriction of the umbilical cord is characterized by localized absence of Wharton's jelly, leading to narrowing of the cord, thickening of the vascular walls and narrowing of the vascular lumens. This may result in a compromised fetal blood supply, leading to fetal anoxia and eventual fetal death. Approximately 50 cases have been reported in the world literature over the last three centuries. Three cases of umbilical cord constriction leading to intrauterine fetal demise are reported. Two of the patients presented during the late second trimester with loss of sensation of fetal movements. Intrauterine fetal demise was diagnosed, and autopsy revealed constricted umbilical cords associated with torsion. The third patient is unique in that fetal death was precipitated by a routine, technically uncomplicated, transplacental amniocentesis procedure performed in the early second trimester. At the time of termination of the pregnancy we found marked stenosis with torsion over a 1-cm segment of the umbilical cord juxtaposed against the fetal insertion site. Umbilical cord constriction is a rare, almost invariably fatal condition, usually undiagnosed antenatally. In case 3, disruption of the placenta by amniocentesis may have initiated a terminal event in a fetus already compromised by a cord constriction. Three possible mechanisms could have contributed to the fetal death after amniocentesis in the presence of cord constriction: acute vasospasm, acute oligohydramnios and uterine contraction, or an obliterating thrombus.
Marked segmental thinning of the umbilical cord vessels is an infrequent finding of undetermined origin and significance. We identified this lesion in 17 (1.5%) of 1100 consecutively examined placentas and reviewed the clinical records of both mothers and infants to determine its clinicopathologic significance. In each case, the tunica media vasorum (later referred to as media) was virtually absent in at least one cord level in an area usually less than 30% of the vessel circumference. The vein was affected in 13 (76%) cases, and one or both arteries were affected in four (24%) cases. The lesion faced the cord surface in nine (53%) cases. Similar changes were seen in the stem vessels of all the placentas. Five (30%) of the 17 mothers had infants with severe congenital anomalies, including anencephaly (n = 2), genitourinary tract abnormalities (n = 2), and conjoint twins (n = 1). Complications in other pregnancies included meconium-stained amniotic fluid (n = 4), variable decelerations or bradycardia during labor (n = 4), twinning (n = 3), and nuchal cord (n = 3). While the origin of this lesion is not known, it most likely represents a form of dysplasia of the media. Marked segmental thinning may be associated with increased congenital anomalies and perinatal problems.
Hydrolethalus syndrome is a rare autosomal recessive (AR) disorder characterized by polyhydramnios, CNS abnormalities, cleft lip/palate, micrognathia, and polydactyly. Its molecular basis is unknown and prenatal diagnosis is challenging due to phenotypic overlap with several other midline malformation syndromes. A 34-year-old G3P2, nonconsanguinous, married, African-American woman was referred at 19 weeks of gestation after ultrasound findings of "multiple congenital anomalies." A previous pregnancy had been terminated following ultrasound findings of polyhydramnios, cleft lip/palate, polydactyly, severe hydrocephalus, and a Dandy-Walker malformation (DWM). Level II ultrasound evaluation of the current pregnancy demonstrated all of the anomalies which had been present in her previous pregnancy. Karyotype of amniocytes was 46,XX. Autopsy following pregnancy termination confirmed ultrasound findings. The pedigree, sonographic, and autopsy findings in this case were most consistent with hydrolethalus syndrome, although other AR multiple midline malformation syndromes were considered. Our case was detected by 19 weeks. Confident differential diagnosis is difficult for the geneticist and even more so for the sonologist given the technical limitations of ultrasound. It is uncertain whether these mendelian midline malformation syndromes represent slightly different phenotypic expressions of a common genetic defect or are manifestations of allelic and or locus heterogeneity. We suggest that for prenatal diagnostic purposes, in the absence of knowledge of the molecular basis of these disorders, the fine distinctions are not crucial as long as their mendelian inheritance is recognized and presence or absence of manifestations which make them severe are ascertained.
Chondroectodermal dysplasia (CED) is an uncommon autosomal recessive disorder and one of the short rib polydactyly syndromes (SRPS). It is characterized by acromelic and mesomelic shortness of limbs, postaxial polydactyly, small chest, ectodermal dysplasia, and in many cases, congenital heart defects. Controversy exists over possible changes in the growth plate. With the advent of ultrasonographic examination, increasing numbers of fetuses with osteochondrodysplasias are examined by pathologists. Since histopathologic examination of the skeletal system is useful in defining various osteochondrodysplasias and it has not been described in the fetus with CED, we herein describe 3 cases of fetal CED with emphasis on skeletal histopathology. All 3 pregnancies were terminated at 22-23 weeks because of ultrasonographic demonstration of short limbs and growth retardation. Radiologically, each fetus had acromelic and mesomelic shortness of long bones with smooth round metaphyses, vertically short iliac bones, short ribs and normal vertebrae. These findings are similar to those described in the larger newborn infant with CED. Histopathologically, the cartilage of the long bones showed chondrocytic disorganization in the physeal growth zone. The findings are dissimilar to those of larger infants and older children in whom chondrocytic columnization has been seen in the central physis and disorganization in peripheral physis. Furthermore, a variable degree of chondrocytic disorganization was also seen in the central physeal growth zone of vertebrae in these fetuses. Other findings noted at fetopsy were: polydactyly in all 3 cases, congenital heart defect in 2 and an abnormal frenulum in one case. The foregoing phenotypic and radiographic manifestations and skeletal histopathology help separate CED from other SRPS.
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Placental evaluation is important in congenital syphilis (CS) since clinical and serologic findings necessary to fulfill the diagnostic criteria of syphilis may be absent at birth, making early accurate diagnosis difficult. We examined 25 placentas from mothers with syphilis as confirmed by positive RPR rapid plasma reagin and fluorescent treponemal antibody absorption tests to determine which histopathologic features should raise the suspicion of CS. The 25 examined placentas were from 162 syphilitic mothers who delivered at our institution in 1990. Of the 27 infants delivered (including two pairs of twins), four were stillborn and three died at 1 day of age. Eleven of 23 liveborn infants fulfilled the Centers for Disease Control criteria of probable CS. Seven of the 25 placentas showed a well-defined constellation of histopathologic changes that included proliferative vascular changes, chronic villitis, relative villous immaturity, and, in six placentas, acute villitis. All seven of these placentas showed the presence of spirochetes by special stains. Six also had plasma cells in the basal decidua. Recognition of these placental changes, although nondiagnostic, should lead the pathologist to seek additional clinical history and ancillary tests. Placental histopathologic examination is an additional parameter to be considered in the diagnosis of CS.
The cytogenetic analysis of a radiation-induced osteosarcoma in a 31-year-old male is presented. Complex karyotypic changes with numerical and structural abnormalities, including a del(13)(q12.3q21.1), were observed. This deletion may indicate that loss of RB1 gene (locus in 13q14) may be involved in the development of radiation-induced osteosarcoma.
We report six cases of chronic intervillositis, an infrequently recognized placental lesion that is characterized by a prominent mononuclear inflammatory cell infiltrate in the intervillous space and that is associated with poor fetal outcome. In all six placentas, the inflammatory infiltrate was essentially limited to the intervillous space: chronic villitis was present focally only in one and absent in the other five. Additional placental histopathologic findings included increased villous fibrinoid material in all six, infarcts in two, atherosis in decidual vessels in two, and acute chorioamnionitis in two. Results of immunohistochemical staining confirmed the predominantly histiocytic nature of the intervillous infiltrate. Two mothers had a history of severe preeclampsia, one had elevated blood pressure at the time of delivery, two had a history of substance abuse, two had a history of systemic lupus erythematosus treated with prednisone, and one of these last two also had diabetes. Five of the six pregnancies resulted in perinatal death. One fetus was nonviable, one was anencephalic, one died in utero, and two died of complications of prematurity shortly after birth; one of the premature infants was small for gestational age. The mononuclear nature of the inflammatory cell infiltrate and its association with increased villous fibrinoid material and atherosis suggests an immunological origin, although the possibility that this lesion may have an infectious cause cannot be excluded.
Herpes simplex virus (HSV) hepatitis is rare in adults, usually occurring in immunocompromised individuals and in otherwise healthy women in the third trimester of pregnancy. Three cases of HSV hepatitis occurring in pregnant women were diagnosed at our institution between 1981 and 1990. This diagnosis was not suspected clinically, and in each case was made on the basis of histology, immunoperoxidase studies, and viral cultures of liver tissue. Clinically, the patients had severe anicteric liver failure with markedly elevated serum aspartate aminotransferase and alanine aminotransferase levels; two of the three patients died. None had mucocutaneous lesions at the time of diagnosis. Histologically, two distinct patterns of necrosis and inflammation were seen. Two of the cases had well-demarcated foci of necrosis scattered randomly throughout the lobules with neutrophilic infiltration, giving the impression of abscess formation. Hepatocytes at the periphery of these areas of necrosis had enlarged nuclei with "ground-glass" inclusions; however, no Cowdry type A inclusions were seen. Rare multinucleated cells were present. Immunoperoxidase staining using antibodies to HSV was positive primarily in the hepatocytes with inclusions. The third case had diffuse, almost total hepatic necrosis with no viral inclusions and virtually no inflammatory response. This histologic pattern is similar to that seen in neonates with HSV infection. Immunoperoxidase studies in this case were negative; however, viral cultures were positive. While HSV hepatitis may be suspected or diagnosed on the basis of histology alone, viral cultures are an important adjunct since viral inclusions may be absent. Prompt diagnosis is important since antiviral therapy is now available.
Necrotizing funisitis (NF) is a distinctive inflammatory condition of the umbilical cord, characterized by perivascular concentric rings of inflammatory cells, necrotic debris, or calcium deposits. Necrotizing funisitis has been strongly associated with syphilis by some investigators, while others have failed to link NF with any consistent infectious agents. We examined 45 cases of NF to determine its relationship with syphilis. Five (11%) mothers had syphilis as confirmed by a positive rapid plasma reagin test and a positive fluorescent antibody absorbed test, 31 (69%) had a negative rapid plasma reagin test or venereal disease research laboratory test, and test results were not available for the remaining nine (20%). There was no record of syphilis in those babies born to mothers without confirmed syphilis. Estimated gestational age at the time of delivery ranged from 18 to 40 weeks (mean, 28 weeks). Prolonged rupture of membranes was present in 28 (62%) of the mothers, and ranged from 1 to 51 days (mean, 9 days); this was the most frequently seen maternal factor in connection with NF. Fourteen (31%) of the babies were stillborn or nonviable, including three (60%) of the five born to mothers with syphilis. Maternal and fetal cultures revealed no consistent microorganisms. Placental histology was significant for chronic villitis in 26 (58%) cases, including all five (100%) with maternal syphilis. Acute chorioamnionitis was present in each case (100%) and varied from mild to severe. We conclude that (1) NF has a polymicrobial etiology, (2) in the absence of other placental findings associated with syphilis NF should not be considered presumptive of this disease, and (3) factors leading to NF may also contribute to acute chorioamnionitis, premature rupture of membranes, and stillbirth.
Varicella zoster virus infection acquired in pregnancy is reported to cause fetal damage in 5% to 10% of cases. We used polymerase chain reaction to attempt molecular diagnosis of fetoplacental varicella zoster virus infection in two patients. Tissue obtained by chorionic villus sampling in the second trimester was analyzed by polymerase chain reaction with a varicella zoster virus-specific primer, ORF-63, and was found to be positive in both patients. Viral cultures were negative. One patient elected pregnancy termination at 23 weeks. Southern blot hybridization of neonatal brain tissue for varicella zoster virus was negative. The second patient carried the pregnancy to term and was delivered of a normal infant. Varicella zoster virus immunoglobulin M and viral cultures were negative. The presence of viral deoxyribonucleic acid sequences in placental tissue does not correlate with fetal disease.
We present the first reported case of prenatally diagnosed dup(22q) syndrome in a 20-year-old woman referred for genetic counseling because of a low maternal serum alpha-fetoprotein value. An ultrasound study at 22 weeks demonstrated oligohydramnios, intrauterine growth retardation, multiple facial malformations, and a cardiac defect. Fetal karyotype was 46, XYdup(22)(pter----q13:: q12----qter) by amniocentesis. Necropsy following pregnancy termination confirmed all prenatally delineated anomalies. Comparison is made with the complete and partial proximal dup(22q) syndromes. We emphasize the correlation between aneuploidy and the presence of low maternal serum alpha-fetoprotein, oligohydramnios, and midgestational intrauterine growth retardation.
Metaplastic carcinoma of the female breast is an uncommon lesion that may metastasize to body sites. To our knowledge, this is the first reported case of pulmonary metastasis diagnosed on bronchial brush cytology. The patient presented with pulmonary symptomatology 1 yr and 3 mo after a left modified radical mastectomy for breast carcinoma. Bronchoscopic examination revealed an endobronchial lesion partially obstructing the bronchus intermedius. Bronchial brush cytology showed the presence of nonkeratinizing squamous tumor cells admixed with a few scattered clusters of tumor cells with glandular features. Histologic review of the original breast lesion showed a metaplastic carcinoma of the breast with a predominant squamous-cell component. Accurate knowledge of a patient's clinical history is necessary to differentiate a second primary lesion from a metastatic one, particularly when the original lesion is so uncommon.
Models to predict normal fetal growth have been of limited accuracy. Abnormal growth is even more problematic. We have developed a mathematical modeling system based on observed body and brain weights to study fetal growth patterns in midgestational trisomy 18 fetuses. Third-degree polynomial-based analysis using observed fetal body and brain weights to generate predicted weights for various organ systems allows for the comparative study of growth patterns at various fetal weights and gestational ages. Our data suggest that what has been previously called symmetrical intrauterine growth retardation associated with aneuploid fetuses is really an asymmetrical pattern that is dynamic in nature and may change through the course of pregnancy.
The cosmopolitan nematode parasites Ascaris lumbricoides, Ascaris suum, and Toxocara canis are closely related phylogenetically, and are all pathogenic to man. In the case of the latter, the antigens released by the tissue-invasive parasitic larvae in vitro ('excretory/secretory' or 'ES' antigens) are routinely used for serodiagnostic purposes. Here we have found, using radioimmunoprecipitation with defined rabbit antiserum, and SDS-PAGE, that there is a significant antigenic similarity between the secreted and somatic antigens of the three nematodes, and have characterized cross-reactive components. Among these is a 14 kD internal protein which has a homologue in all three parasites. This molecule is the subject of an IgG antibody response in Ascaris infection, but there is no measurable response to it in toxocariasis. Lastly, using quantitative immunofluorescence, the antigens exposed on the surface of intact, living, larvae were found to be cross-reactive or specific depending on the developmental stage of the parasites. This means that the surface of tissue-invasive Ascaris larvae bears stage-specific epitopes.
To assess the nutritional status of children under 5, a survey was conducted in the under-privileged community of Mahmoodabad. Of over 1,000 children, three-fourth had varying grades of protein calorie malnutrition. The prevalence of grade III malnutrition was higher in children in their 2nd year and among those belonging to families of more than four persons. On the average, a child was reported to suffer from two spells each of diarrhoea and respiratory illness. Both the diseases seemed to be associated with age and nutritional status of the children. An association was found between history of roundworm infestation and the nutritional status. On the basis of these findings, we emphasize on education of the mothers on various aspects of child health, regular growth monitoring, and on measures to improve general health status in the underprivileged communities.