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S M Jacques

Publications and source records attributed to S M Jacques.

At least 19 recordsLinked to original sources

Histopathology of fetal diastrophic dysplasia.

We report on three cases of diastrophic dysplasia in second trimester fetuses and discuss the differential diagnosis and clinical, radiologic, and histopathologic findings. Manifestations of typical diastrophic dysplasia in infants and older patients include abnormal pinnae, scoliosis, and joint contractures; these were absent in the fetuses, in keeping with the tendency for the clinical and radiologic aspects of this disease to become more severe with age. The histopathologic characteristics of the cartilage appear to be similar in the fetus and older patient, and therefore may be useful in differentiating diastrophic dysplasia from other osteochondrodysplasias in the second trimester.

Cartilage

Acrania.

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Acetylcholinesterase

Microscopic neuroblastoma in a fetus with a de novo unbalanced translocation 3;10.

We report on a fetus with a de novo unbalanced translocation 3;10 and a microscopic neuroblastoma. The fetus had the karyotypic and phenotypic manifestations of partial dup (3q). The finding of a constitutional chromosomal abnormality and a microscopic neuroblastoma, although possibly coincidental, supports Knudson's two hit hypothesis for development of neuroblastomas and other embryonal tumors. In this case the first mutation is represented by the constitutional abnormality, possibly resulting in the microscopic neuroblastoma. A second mutation affecting the abnormal cells, which may be more prone to mutagenesis, may trigger a neuroblastoma.

Abnormalities, Multiple

Constriction of the umbilical cord leading to fetal death. A report of three cases.

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.

Adult

Marked segmental thinning of the umbilical cord vessels.

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.

Adolescent

Uterine mixed embryonal rhabdomyosarcoma and fetal rhabdomyoma.

A polypoid uterine tumor, occurring in a 31-year-old woman, with histopathologic features of both embryonal rhabdomyosarcoma and fetal rhabdomyoma is reported. The clinical and pathologic differences between pure fetal rhabdomyoma and embryonal rhabdomyosarcoma are detailed and theories concerning the histogenesis of such a mixed, or intermediate, tumor are discussed. Most likely, this neoplasm represents one example in a spectrum of tumors with varying proportions of immature and mature skeletal muscle elements. Its good prognosis is in keeping with that of uterine (cervical) embryonal rhabdomyosarcomas in general, although the presence of mature skeletal muscle elements may signify an even better prognostic group of tumors.

Adult

Placental histopathology in syphilis.

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.

Adolescent

Chronic intervillositis of the placenta.

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.

Adult

Herpes simplex virus hepatitis in pregnancy: a clinicopathologic study of three cases.

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.

Adolescent

Necrotizing funisitis: a study of 45 cases.

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.

Female

Multiple peritoneal cytologies collected during laparotomy for gynecologic malignancy.

Review of an 18-mo experience with peritoneal cytology specimens showed that 760 peritoneal washings and 177 diaphragmatic smears were collected during 300 laparotomies on patients known to have or suspected of having gynecologic malignancy. One hundred three patients were eventually shown to have benign gynecologic disease. The remaining 197 procedures were done on patients undergoing primary operations for gynecologic malignancy or laparotomies for previously treated gynecologic malignancy. Of the 197 laparotomies for gynecologic malignancies, 168 had washings separately collected from multiple intra-abdominal sites, and these fluids were interpreted as either all positive or all negative in all but seven (4%) patients. The location and extent of the gross or microscopic disease did not correlate with the site of positive washings. Only three of the 177 diaphragmatic smears were positive for malignant cells; these were collected from three patients undergoing primary treatment of ovarian carcinoma, two of whom had extensive peritoneal involvement by carcinoma. Only 35 of the 197 patients with gynecologic malignancy had positive peritoneal cytologies; 32 of these patients had gross or microscopic peritoneal involvement by malignancy, and one additional patient had metastatic carcinoma in pelvic lymph nodes. The analysis of multiple peritoneal washings separately collected from various intra-abdominal sites and the analysis of diaphragmatic smears collected in the absence of gross diaphragmatic disease appear to be of benefit in few cases.

Diaphragm

Endometrial adenocarcinoma with variable-level myometrial involvement limited to adenomyosis: a clinicopathologic study of 23 cases.

Endometrial adenocarcinoma (EA) with myometrial involvement limited to foci of adenomyosis has been associated with a better 5-year survival than EA with myometrial invasion at the corresponding depth. We identified 23 cases of stage I EA diagnosed between 1975 and 1981 in which myometrial involvement was confined entirely to adenomyotic foci. Histopathological criteria used to determine adenomyotic involvement by EA included presence of endometrial stroma; presence of adjacent benign "marker" glands to indicate partial replacement of adenomyosis; either bulging expansion of the endomyometrial junction by EA or a smooth rounded contour of entirely intramyometrial tumor nests; and absence of peritumoral desmoplasia or stromal loosening around such foci. In any one case no single criterion was sufficient to differentiate adenomyotic involvement from true invasion; however, none of the cases showed the last phenomenon. Adenomyotic involvement extended to the inner third of the myometrium in 15 cases, the middle third in 6 cases, and the outer third in 2 cases. Twenty-one cases were pure adenocarcinoma, with one adenocarcinoma with squamous differentiation (adenoacanthoma) and one adenosquamous carcinoma; 18 cases were FIGO grade 1 and 5 were FIGO grade 2. Adenomyosis containing atypical hyperplasia was seen in 13 cases, suggesting that EA may arise de novo in adenomyosis at variable levels in the myometrium. Current follow-up data were available for all patients, with 19 presently alive and free of disease. Four died of unrelated causes, three of whom had inner third involvement and one, middle third involvement. Twelve patients were treated with preoperative or postoperative radiation. This study supports previous smaller series suggesting that cases of EA in which myometrial involvement is limited to adenomyosis have a better prognosis than those with true myometrial invasion at an equivalent level and that adenocarcinoma may arise de novo in adenomyosis.

Adenocarcinoma

Palmar dermatoglyphic patterns in twins.

The role of genetic factors in the determination of palmar dermatoglyphic patterns was investigated in a series of 49 MZ and 51 DZ twins, using Spearman's rank correlation and analysis of variance. Both methods indicated that the genetic effect in the distribution of patterns is highest in the interdigital III and lowest in the interdigital IV regions, the hypothenar and thenar showing intermediate values. As for interdigital II, no evaluation of genetic effects was possible using the nonparametric test, but the estimates of genetic variance indicate that inherited factors may play a relatively minor role in the pattern distribution of this area.

Dermatoglyphics

Demographic and genetic relationships among Brazilian Wapishana Indians.

Demographic information is given and data on 25 genetic systems are reanalysed for six populations of Wapishana Indians living in northern Brazil. Despite 200 years of contact with non-Indians, the maximum amount of admixture that may be present in persons who claim 'pure' Indian ancestry is 3%. Historical sources mention considerable exchange with the Macushi, Taurepan and Atorai tribes, confirmed by our genealogies. Departures from the maximum amount of heterozygosity per locus are similar in putative 'full bloods' and admixed individuals, as well as among the first and members of other tribes. Demographically the Wapishana can be characterized as very mobile, with high fertility but moderate mortality for an agricultural group. The Index of Opportunity for Selection (0 x 57) is one of the lowest calculated so far among South American tribes. Despite the indicated high mobility, clustering of some alleles was observed in two localities.

Adolescent

Meroanencephaly: pathology and prenatal diagnosis.

Meroanencephaly is a rare form of anencephaly characterized by malformed cranial bones and a median cranial defect, through which protrudes abnormal tissue, called the area cerebrovasculosa. Area cerebrovasculosa denotes abnormal spongy, vascular tissue admixed with glial tissue ranging from a thin membrane to a large pseudoencephalic mass simulating cerebral tissue, that is composed of connective tissue, hemorrhagic vascular channels, glial nodules, and disorganized choroid plexuses. There are three types of anencephaly: (1) meroanencephaly, where there is rudimentary brain tissue and partial formation of the cranium; (2) holoanencephaly, the most common type, in which the brain is completely absent, and (3) craniorachischisis, the most severe, where area cerebrovasculosa and area medullovasculosa fill both cranial defects and the spinal column. In meroanencephaly, there is a median defect present, through which protrudes the area cerebrovasculosa. We present 3 cases of meroanencephaly diagnosed prenatally, along with histopathologic analysis. One case showed ectopic glial tissue in the lung and adrenal medullary hyperplasia. Two cases were diagnosed in the early second trimester by ultrasound scanning. Meroanencephaly may be mistaken for encephalocele both at the bedside exam and sonographically, and should be included in the differential for protruding anterior cranial masses.

Adult

Chronic villitis of unknown etiology in twin gestations.

Chronic villitis of unknown etiology (CVUE) is a frequently encountered placental lesion associated with poor pregnancy outcome. We examined 22 twin placentas with CVUE to determine its distribution and clinicopathological significance in twin gestations. CVUE affected both twins' placental portions with an approximately equal degree of severity in 12 of 22 cases (9 dichorionic, 3 monochorionic). Only one twin's placental portion was affected in 8 cases (8 dichorionic). In the remaining 2 (1 dichorionic, 1 monochorionic), both placental portions were affected, but the CVUE was significantly more severe in one. The CVUE varied in extent from rare foci to diffuse involvement. Seven of the 22 (32%) pairs of twins had intrapair weight differences of 15% or greater, and 14 pairs were premature. The twins with placental involvement by CVUE had a lower mean birthweight than their cotwins with less or no CVUE; however, these results were not statistically significant. CVUE may affect placentas from one or both twins, and may be a cause of discordant twin size.

Adult