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Biomedical subjects

J M Lage

Publications and source records attributed to J M Lage.

67 records · Page 4Linked to original sources

Diagnostic dilemmas in gynecologic and obstetric pathology.

Four difficult differential diagnoses in gynecologic and obstetric pathology are reviewed. These include (1) sarcoma-like mural nodule in ovarian tumors versus ovarian sarcomas, (2) early blastocyst versus choriocarcinoma, (3) hydropic abortus versus partial hydatidiform mole, and (4) regressing implantation site versus placental site trophoblastic tumor. The author's own interpretation and recommendations are presented.

Diagnosis, Differential↗

The biology of tetraploid hydatidiform moles: histopathology, cytogenetics, and flow cytometry.

We identified three cases of tetraploid hydatidiform moles (HM). A complete hydatidiform mole (CM) had a 92,XXXX karyotype. The two partial hydatidiform moles (PM) had karyotypes of 69,XXY/90,XXXY,-11,-13 and 92,XXYY, respectively. Study of chromosomal heteromorphisms in the 92,XXYY PM revealed two maternal and two paternal haploid sets. Flow cytometric analysis of nuclear DNA content from fresh placental tissue from the 69,XXY/90,XXXY,-11,-13 PM demonstrated distinct peaks in the triploid and tetraploid regions and an octaploid G2/M peak. Flow cytometric analysis of paraffin-embedded, fixed tissue was diagnostic of tetraploidy in the 92,XXXX CM and consistent with tetraploidy in the 92,XXYY PM. All three patients achieved spontaneous remission of elevated gonadotropin levels. These three cases of tetraploid HM do not fit into the usual patterns of diploid CM and triploid PM. We conclude that flow cytometric analysis of nuclear DNA may be used to identify polyploidy in fresh and paraffin-embedded, fixed placental tissues. Categorization of all molar placentas on the basis of ploidy presents rare opportunities to study the biology and natural history of gestational trophoblastic disease in tetraploid HM.

Adult↗

Repetitive complete and partial hydatidiform mole.

Fifteen patients with repetitive hydatidiform mole were followed at the New England Trophoblastic Disease Center between 1965-1988. The medical records were examined to determine the patients' age, gravidity, parity, clinical presentation, development of post-molar tumor, and subsequent pregnancy experience. Each molar tissue was reviewed pathologically. Seven patients had repetitive complete hydatidiform mole and three developed persistent post-molar disease after their later mole. Five patients had an initial complete hydatidiform mole followed by a partial hydatidiform mole; two developed persistent post-molar disease after the partial mole. One patient had an initial partial hydatidiform mole followed by a complete hydatidiform mole and required chemotherapy after her complete mole. Two patients had repetitive partial hydatidiform mole, and neither developed post-molar disease. Four of the patients with repetitive mole later achieved a normal viable pregnancy. Molar pregnancies must be categorized as either complete or partial to provide meaningful data concerning repetitive hydatidiform mole.

Adolescent↗

Hydatidiform moles. Application of flow cytometry in diagnosis.

Hydropic chorionic villi are found in hydropic abortuses, partial hydatidiform moles (PM), and complete hydatidiform moles. Partial and complete moles have the potential for persistent trophoblastic disease. The vast majority of partial moles are triploid and generally follow a benign clinical course. Complete moles are diploid and distant metastasis and choriocarcinoma may develop. The authors determined the nuclear ploidy by flow cytometry of 31 placentas, 19 of which appeared hydropic either on obstetric ultrasonography or gross examination. Of ten complete moles classified by histologic criteria, ten were diploid, whereas five of seven histologically classified PM were triploid. The remaining two cases classified as PM were diploid; one most likely represented a regressing complete mole; the other a hydropic abortus. All 14 control placentas were diploid. In all cases in which karyotypic analysis was performed, the flow cytometric determination of ploidy was confirmed. It was concluded that DNA flow cytometric analysis is a rapid, accurate, and cost-effective means for assaying nuclear ploidy in these tissues, and as such, offers an informative supplement to the histological interpretation of hydropic placentas.

Abortion, Spontaneous↗

Meconium peritonitis in stillbirths.

Meconium peritonitis is a sterile, chemical peritonitis resulting from perforation of the bowel in perinatal life. In stillbirths meconium peritonitis is extremely rare. We report the autopsy findings in three fetuses ranging from 21-39 weeks gestation in which meconium peritonitis was identified. Maternal history in two cases was suggestive of possible fetal hypoxia. No family history of cystic fibrosis was discerned. One fetus was hydropic and abdominal calcifications were noted on postmortem radiograph. Gross evidence of meconium in the peritoneal cavity, visceral adhesions, and serosal nodules were noted in two fetuses. Nodules of calcified meconium seen by microscopy were the only clues to diagnosis in the third fetus. The discovery of meconium peritonitis at autopsy may be the only residual evidence of antecedent bowel perforation. We suggest that intrauterine hypoxia may play a role in the development of meconium peritonitis in some cases.

Adult↗

Questionable role of amniocentesis in the etiology of amniotic band formation. A case report.

A preterm infant had an amniotic band sequence. Anomalies included left leg amputation and digital anomalies of the hands. The umbilical cord was short, and histologic sections of the placenta demonstrated partial avulsion of the amnion and fibrosis of the underlying chorion. Ultrasound at 21 weeks was normal, there was no history of trauma during the pregnancy, and no amniocentesis had been performed. Despite isolated case reports of amniotic band sequence associated with amniocentesis, we doubt that amniotic band formation is a significant risk after second-trimester amniocentesis.

Adult↗

Transposition of the external genitalia associated with caudal regression.

Complete transposition of the external genitalia is a rare abnormality that occasionally is associated with the caudal regression syndrome. We report the pathological findings of this abnormality in a male stillborn and a female newborn. The male stillborn had extensive urogenital anomalies as well as complete transposition of the external genitalia and agenesis of the lumbar spine. The female patient had renal tract anomalies and ambiguous external genitalia with a phallic structure in the gluteal cleft. In surviving infants with transposition of the external genitalia immediate evaluation of the urogenital system is necessary to identify the full extent of any associated internal defects.

Abnormalities, Multiple↗

Histological parameters and pitfalls in the interpretation of bladder biopsies in bacillus Calmette-Guerin treatment of superficial bladder cancer.

We report the morphological effects of intravesical bacillus Calmette-Guerin therapy on early post-treatment biopsies of the bladder in 39 patients with superficial transitional cell carcinoma (stage Ta, T1 or Tis) of the bladder. Although submucosal granulomatous inflammation in bladder biopsies of patients receiving intravesical bacillus Calmette-Guerin treatment has been described previously, a complete morphological description of the early effects of bacillus Calmette-Guerin on all bladder layers and the prostatic urethra has not been reported. In the majority of cases the superficial epithelium was eroded and the edematous submucosa contained noncaseating granulomas with a surrounding lymphoplasmocytic and eosinophilic infiltrate. Langhans' giant cells occasionally were found, and acid-fast bacilli were demonstrated only rarely by special stains in the 6-week post-treatment biopsy. In some cases the prostatic urethra and muscle bundles contained noncaseating granulomas. Features distinguishing epithelial atypia resulting from bacillus Calmette-Guerin treatment and superficial cancer include the presence of epithelial maturation, preserved nuclear/cytoplasmic ratio, smooth nuclear contours and lack of nuclear pleomorphism, nucleoli or cytomegaly.

Adult↗

Isolated congenital renal tubular immaturity in siblings.

This paper describes two cases of an unusual renal abnormality discovered in anuric siblings (one male, one female) who were born at 36 and 34 weeks of gestation and died of systemic complications secondary to severe pulmonary hypoplasia shortly after birth. Both gestations were complicated by marked oligohydramnios. Antenatal ultrasound examinations showed slightly enlarged kidneys in the first case and normal kidneys in the second case, with no evidence of hydronephrosis or cystic disease in either. With the exception of enlargement of the first infant's kidneys, autopsies revealed grossly unremarkable kidneys and ureters. Microscopy, however, demonstrated increased glomerulogenesis with normal glomeruli and global immaturity of renal tubules and ducts without concomitant features of dysplasia. Immunoperoxidase staining for epithelial membrane antigen revealed the immaturity or complete absence of proximal convoluted tubules. This precise constellation of findings had not been described previously. One other similar family has been documented in a report implicating genetic factors. In the present cases, the possibility of a cocaine-associated etiology is also addressed.

Female↗

Intravesical bacillus Calmette-Guerin therapy for superficial bladder cancer: effect of bacillus Calmette-Guerin viability on treatment results.

We treated 40 patients with superficial bladder cancer via intravesical bacillus Calmette-Guerin for 1) prophylaxis against tumor recurrence, 2) residual carcinoma or 3) flat carcinoma in situ. A single course of intravesical bacillus Calmette-Guerin therapy was successful in 6 of 11 patients (55 per cent) treated for residual carcinoma and 6 of 12 (50 per cent) treated for carcinoma in situ. Of 17 patients receiving a single course of bacillus Calmette-Guerin for prophylaxis 11 remained free of tumor during short-term followup. A second course of therapy was administered to failures in each treatment category, which resulted in favorable responses in 5 of 6 patients treated for prophylaxis, 2 of 5 treated for residual tumor and 3 of 6 treated for carcinoma in situ. Over-all complete responses were achieved in 16 of 17 patients (94 per cent) treated for prophylaxis, 8 of 11 (73 per cent) for residual carcinoma and 8 of 12 (66 per cent) for carcinoma in situ, with a mean followup from the final treatment of 9.3, 12.3 and 7.9 months, respectively. Favorable results occurred more frequently among patients who exhibited a granulomatous inflammatory response in the bladder and delayed hypersensitivity skin test response to purified protein derivative. Marked variability in viability of bacillus Calmette-Guerin organisms was observed among different lots of bacillus Calmette-Guerin, and a direct relationship was observed between bacillus Calmette-Guerin vaccine viability and therapeutic efficacy. Most patients who failed initial therapy with a low viability lot of bacillus Calmette-Guerin responded favorably to re-treatment with a higher viability lot. The results suggest that the level of viability of each lot of bacillus Calmette-Guerin vaccine should be verified before clinical use.

Adult↗

Diagnosis of unsuspected fetal metabolic storage disease by routine placental examination.

GM1 gangliosidosis (type 1) is a rare hereditary, autosomal recessive, lysosomal storage disease characterized by a marked deficiency of active acid beta-galactosidase resulting in accumulation of gangliosides and mucopolysaccharides in tissues. Disease status of newborns from affected kindreds may be diagnosed by placental examination. Typical findings include a characteristic vacuolar distension of the cytoplasm of syncytiotrophoblast and stromal Hofbauer cells. We report a case of unsuspected fetal storage disorder initially diagnosed by routine placental examination of a normal-appearing infant born to a previously unaffected family. Progressive, third-trimester oligohydramnios and fetal growth retardation had been documented by ultrasonography. Placental findings included vacuolization of syncytiotrophoblast, intermediate trophoblast, and stromal Hofbauer cells. Subsequent enzyme analysis confirmed the placental findings of storage disorder and diagnosed GM1 gangliosidosis.

Adult↗

Idiopathic hydropericardium as a cause of death of a preterm neonate.

We report a case of a very premature infant who died on day 17 of life because of clinically unsuspected cardiac tamponade due to a pericardial effusion with no gross or microscopic features of myocardial inflammation or perforation. The pericardial effusion probably accumulated for 8 days prior to his death, as evidenced by chest X-ray films. The only relevant microscopic finding was a prominent pericardial and myocardial interstitial edema. Although Staphylococcus epidermidis line sepsis, central venous catheter trauma, hypoalbuminemia, anemia, and heart failure could be possible contributory factors, no definitive cause of the pericardial effusion was found and the etiology of this condition remains obscure.

Adult↗