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Biomedical subjects

S M Jacques

Publications and source records attributed to S M Jacques.

At least 55 records · Page 3Linked to original sources
PubMed1991

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↗
PubMed1990

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↗
PubMed1977

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↗
PubMedDate not supplied

Candida funisitis: A clinicopathologic study of 32 cases.

We report on 32 cases of Candida funisitis and describe the associated clinicopathologic features. The Candida funisitis was characterized grossly by small, circumscribed, yellow-white nodules on the umbilical cord surface and, microscopically, by subamnionic microabscesses in which fungal organisms were demonstrable. Chorioamnionitis was present in all cases. Twenty-four (75%) of the 32 infants were premature. There were 7 perinatal deaths, all in immature fetuses. Five (16%) of the 32 fetuses had congenital candidiasis. Five (16%) of the mothers had a history of intrauterine foreign body, including intrauterine contraceptive device in three and cervical cerclage in two. The diagnosis of Candida funisitis should prompt a careful examination for fetal infection, even though it is associated with congenital candidiasis in only a minority of the cases.

Adult↗
PubMedDate not supplied

Intraplacental choriocarcinoma associated with viable pregnancy: pathologic features and implications for the mother and infant.

Choriocarcinoma arising in the placenta, or intraplacental choriocarcinoma, has seldom been reported, particularly in the absence of maternal metastases. Reluctance to diagnose choriocarcinoma in the presence of chorionic villi can delay diagnosis; however, timely diagnosis of choriocarcinoma is prognostically important, both for the mother and infant. We report the clinicopathologic findings in five mothers and infants in whom choriocarcinoma was identified in the placenta. None of the mothers had a history of gestational trophoblastic disease in previous pregnancies. Three placentas were similar with a single small lesion grossly suggesting a small infarct; microscopically these consisted of infarcted areas surrounded by choriocarcinoma. These three mothers were unusual in that none had metastatic choriocarcinoma; two were treated with chemotherapy and remained disease-free; the third was lost to follow-up shortly following delivery. The remaining two mothers had known pulmonary metastases at time of delivery. One of these latter two placentas contained a large marginal lesion microscopically identified as choriocarcinoma. The fifth placenta had rare microscopic foci of choriocarcinoma, and sheets of necrotic choriocarcinoma were identified in "blood clot" submitted with the placenta. In four of the five cases the choriocarcinoma appeared to be arising from otherwise normal chorionic villi, and in no case was there invasion of the villous stroma. All of the infants survived, and none had evidence of choriocarcinoma. These cases support the concept that choriocarcinoma associated with otherwise normal pregnancy arises in the placenta and may be more common than reported.

Adult↗
PubMedDate not supplied

Placental involvement in congenital hepatoblastoma.

We describe extensive placental involvement by hepatoblastoma in a 2600 g, 33-week estimated gestational age (EGA) hydropic female fetus with the hepatoblastoma otherwise limited to the liver. The placenta weighed 1190 g and histopathologic examination revealed diffuse tumor emboli in chorionic villous vessels. The placental tumor exhibited a cytologic appearance similar to the primary tumor and showed strong alpha-fetoprotein staining. Although unusual, other congenital tumors, including neuroblastoma and leukemia, have also been described metastatic to the placenta. This case emphasizes the important role of careful histopathologic examination of the placenta which, combined with immunohistochemistry and clinicopathologic correlation, may establish a diagnosis and possibly obviate the need for invasive neonatal diagnostic procedures.

Adult↗
PubMedDate not supplied

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↗
PubMedDate not supplied

Prenatal diagnosis of cloacal dysgenesis sequence: differential diagnosis from other forms of fetal obstructive uropathy.

Cloacal dysgenesis sequence (CDS) is a rare cause of fetal obstructive uropathy (FOU). The prenatal differentiation of CDS from other FOU is important because CDS is not amenable to in utero surgical intervention in the form of vesicoamniotic shunts. We evaluated the prenatal characteristics of 8 fetuses with CDS, including a pair of monozygotic twins concordant for CDS, in order to identify features that would enable differentiation from other forms of FOU. Pathologic examination in each of the 8 fetuses confirmed characteristic features of absent anal, genital, and urinary orifices associated with a smooth perineum and abnormal phallic development. Associated abnormalities included dysplastic kidneys in 6, hydroureters in 5, intraluminal colonic calcifications in 2, and hypoplastic lungs in 5. Five of these fetuses initially presented as posterior urethral valve syndrome. Six fetuses had megacystis, and 4 underwent vesicocenteses to evaluate urinary electrolytes, all of which were in the 'poor-risk' category. Six fetuses were male and 2 female, contradicting earlier claims that CDS occurs only in females. Evaluation of candidates for in utero surgical intervention should include fetal karyotype, and CDS should be suspected in cases of FOU in whom the karyotype reveals a male fetus and sonographic evaluation demonstrates colonic calcifications or abnormal phallic development. Diagnostic microendoscopy may be of benefit in such cases.

Adult↗
PubMedDate not supplied

Prenatal diagnosis of smith-magenis syndrome (del 17p11.2).

Smith-Magenis syndrome is associated with a microdeletion of the short arm of chromosome 17 with phenotypic abnormalities including dysmorphic facies, self-injurious behavior, mental and neurologic disturbances, and congenital cardiac defects. The majority of patients present in mid-childhood or adulthood. We describe a fetus in which the diagnosis of Smith-Magenis syndrome was made at 16 weeks of gestation following amniocentesis for increased risk for Down syndrome detected by second-trimester maternal serum screening. Ultrasound evaluation revealed multiple fetal anomalies. The pregnancy was terminated at 20 weeks of gestation. Post-mortem findings included dysmorphic facial features, tetralogy of Fallot, a thymic duct remnant, pancreatic islet cell hyperplasia, and abnormal lung fissuring. This represents the second case of prenatally diagnosed Smith-Magenis syndrome. Molecular genetic techniques in the diagnosis of the Smith-Magenis syndrome and other small deletions are becoming an important tool in the genetic evaluation of ultrasound abnormalities.

Abnormalities, Multiple↗
PubMedDate not supplied

Fetal obstructive uropathy in trisomy syndromes.

Fetal obstructive uropathy has seldom been described in trisomy syndromes, and its relationship to these syndromes remains unclear. Five trisomic male fetuses, four with trisomy 18 and one with trisomy 21, were identified out of 110 fetuses evaluated for fetal obstructive uropathy. We performed detailed examination on the urinary tracts of four of these fetuses, three with trisomy 18 and one with trisomy 21, following termination in the second trimester. All four had a markedly distended urinary bladder (megacystis), abdominal wall distension, and a small, poorly developed urethra thoughout its full length. All four also had poor development of the prostate with virtual absence of glandular development, as compared to age-matched controls. Posterior urethral valves were not identified in any case. Three of the fetuses (two with trisomy 18 and one with trisomy 21) had unilateral or bilateral hydroureters, and resulting renal tubulocystic or glomerulocystic change. Review of this database reveals an unexpectedly high frequency of trisomies, particularly trisomy 18, suggesting that the relationship may not be coincidental. Abnormal prostate development may be causally related to fetal obstructive uropathies and may be an under-recognized trait in trisomy syndromes. Karyotypic analysis of all fetuses with obstructive uropathy is important since in utero surgical intervention may be contraindicated in cases of fetal aneuploidy.

Chromosomes, Human, Pair 18↗
PubMedDate not supplied

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↗
PubMedDate not supplied

In utero fetal urine analysis and renal histology correlate with the outcome in fetal obstructive uropathies.

We evaluated 8 second-trimester fetuses who had undergone termination because of obstructive uropathies and correlated the renal histopathology with fetal urine biochemical prognostic parameters. Prenatal evaluation included serial vesicocentesis, karyotyping, and sonography. According to the urinary biochemical parameters, 3 fetuses were classified to be in the good prognostic category, 2 in the borderline prognostic category, and 3 in the poor prognostic category. The kidneys were evaluated both grossly and microscopically for hydronephrosis, pelvicaliceal dilatation, cystic changes and fibrosis. Fetuses in the poor prognostic category had severely damaged renal architecture, microcysts, macrocysts, and extensive fibrosis. Fetuses in the good prognostic category had minimal histopathologic changes with preservation of the architecture. Fetuses in the borderline category showed a moderate degree of renal damage but with focally preserved architecture. We conclude (1) that there is a direct correlation between elevation in urinary electrolytes and proteins and extent of underlying renal histopathological damage and (2) that appropriate detailed prenatal evaluation of the renal function can identify fetuses who could potentially benefit from in utero therapy.

Calcium↗
PubMedDate not supplied

Prenatal diagnosis of fetal herpes simplex infection.

BACKGROUND: Intrauterine infection with herpes simplex virus (HSV) has been associated with a significant number of neonatal HSV infections. When these infections begin in utero, the associated morbidity is more severe, and treatment regimens may be less effective. CASE: A 24-year-old nullipara with an abnormal triple screen and multiple ultrasound abnormalities at 19 weeks' gestation underwent amniocentesis and cordocentesis. Laboratory results were consistent with HSV infection. The patient elected to terminate the pregnancy, and on postmortem examination of the fetus, evidence of disseminated disease was present. CONCLUSION: We believe that this case documents a relationship between HSV infection and findings on ultrasound that have previously been described in association with other in utero infections. We suggest that general viral cultures of the amniotic fluid be done when in utero infection is suspected.

Adult↗
PubMedDate not supplied

Trisomy 21 placentas: histopathological and immunohistochemical findings using proliferating cell nuclear antigen.

OBJECTIVE: The cause of growth retardation in trisomy 21 and other autosomal trisomies is not known, but may be the result of defective cell proliferation, slowing of the cell cycle, or placental structural abnormalities. Abnormalities of the fetal cell cycle may be reflected in placental growth and can be detected using proliferating cell nuclear antigen (PCNA). METHODS: Twelve second-trimester and six third-trimester trisomy 21 placentas were examined histopathologically and stained immunohistochemically using antibodies to PCNA. Normal age-matched placentas were used as controls. RESULTS: The second-trimester trisomy 21 placentas all exhibited many large irregular hypovascular villi. The third-trimester trisomy 21 placentas showed two patterns: (i) many large, irregular hypovascular villi, and (ii) relatively normal-appearing villi with only a few abnormal villi and focal hypervascularity. PCNA staining was significantly greater in second-trimester placentas when compared to third-trimester placentas for both trisomy 21 and controls. There was no significant difference in PCNA staining in trisomy 21 placentas when compared to the normal age-matched controls. CONCLUSIONS: PCNA staining indicates no significant differences in proliferation between normal and trisomy 21 placentas. Trisomy 21 placentas show villus abnormalities, including hypovascularity.

Chorionic Villi↗
PubMedDate not supplied

Meconium drug screening of stillborn infants: a feasibility study.

OBJECTIVE: Meconium drug testing of liveborn infants is highly sensitive (87%) and specific (100%). Accurate knowledge of drug use in mothers of stillborns would be beneficial. We determined the feasibility of noninvasive meconium drug screening for opiates and cocaine in stillborns. METHODS: Stillborn infants delivered at our hospital had meconium collected using a 4-mm spatula inserted into the anus. Specimens were analyzed using gas chromatography. Charts were reviewed. RESULTS: Of the 30 specimens obtained, 26 were below the optimal amount needed (0.5 g). Regardless, all samples were analyzed and three were positive for cocaine (10%), none for opiates. Two of the 3 positive samples were of 'insufficient quantity'. In one, the presumptive cause of fetal demise was diabetes, with no additional factors suggesting substance abuse. The other fetal loss was due to idiopathic preterm labor at 21.5 weeks, with a positive UDS. CONCLUSION: In this pilot study, inability to obtain an optimal volume of meconium occurred frequently. However, important and unexpected laboratory data were generated even with 'insufficient quantity'. This highlights the need to develop more refined methodologies for this screening tool in stillborn fetuses.

Adult↗
PubMedDate not supplied

Concordance for cloacal dysgenesis.

Monozygotic (MZ) twins concordant for cloacal dysgenesis were diagnosed at 15 weeks' gestation on ultrasound exam. The structural alterations result from abnormal morphogenesis of the cloacal membrane and contiguous anlage with resultant secondary changes. These defects are suggestive of teratogen exposure or an endogenous event early in gestation, resulting in MZ twinning and the development of a polytopic field defect.

Cloaca↗
PubMedDate not supplied

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↗