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Biomedical subjects

C E Oyer

Publications and source records attributed to C E Oyer.

30 records · Page 2Linked to original sources
PubMedDate not supplied

Cleidocranial dysplasia with neonatal death due to central nervous system injury in utero: case report and literature review.

Cleidocranial dysplasia (CCD), an uncommon disorder involving membranous bones, is rarely lethal in early life. The calvaria is defective and wormian bones are present. Abnormalities of the clavicles vary in severity from a minor unilateral defect to bilateral absence. This report concerns pre- and postmortem anatomical and radiological findings in a 15-day-old female neonate with CCD. Her postnatal course was characterized by seizures and recognition of hydrocephalus during the first day of life. The calvaria was hypoplastic with numerous wormian bones. A pseudofracture of the right clavicle was present. Hydrocephalus was present in the brachycephalic brain which had a severely thinned cerebral cortex. Hemosiderin in the ventricular lining and marked subependymal gliosis were interpreted as evidence of old intraventricular hemorrhage that had occurred in utero. A CCD-related condition, Yunis-Varon syndrome (YVS), is noted for early lethality and for developmental and secondary abnormalities of the central nervous system. The present case only partially matches the phenotype of YVS and might represent a part of a spectrum of phenotypic variants ranging from viable CCD to lethal YVS.

Adult↗
PubMedDate not supplied

Neonatal hemochromatosis, renal tubular dysgenesis, and hypocalvaria in a neonate.

We report a neonate with neonatal hemochromatosis (NH), renal tubular dysgenesis (RTD), and hypocalvaria. NH is a fatal condition of the newborn, characterized by severe idiopathic liver failure of intrauterine onset and siderosis, intra- and extrahepatic, with sparing of the reticuloendothelial system. RTD is characterized by short, abnormally developed cortical tubules that lack proximal tubule differentiation. Although both NH and RTD have been reported as entities with a genetic component, similar findings can be secondary to in utero insults. Hypocalvaria has been reported in association with fetal hypoxia including that secondary to angiotensin converting enzyme inhibitors. This 38-week-old infant died at 8.5 h. The small nodular liver weighed 44 g. Grossly, the kidneys were normal. Hypocalvaria was present. Microscopically, the hepatic parenchyma was distorted by fibrous tracts, proliferation of bile ducts, and abundant iron deposition in hepatocytes. Extrahepatic siderosis in the pancreas, myocardium, and other organs was consistent with NH. Proximal convoluted tubules were not seen on routine stains and markers for proximal tubules were negative. Previous reports have linked NH with RTD and RTD with hypocalvaria. This infant had all three of these rare conditions, which have been hypothesized or shown to be due to genetic factors, hypoxia, or drugs. The etiology in this case is unknown.

Abnormalities, Multiple↗
PubMedDate not supplied

Hepatic subcapsular hematomas in fetuses and neonatal infants.

In fetuses and neonates hepatic subcapsular hematomas are relatively common lesions and may be life-threatening. Conditions previously associated with these hematomas include trauma, coagulopathies, hypoxia, sepsis, pneumothorax, maternal diseases, and placental lesions. In this study of 755 perinatal autopsies, hepatic subcapsular hematomas were found in 52 (6.9%) cases, including 31 stillborn fetuses and 21 liveborn infants. The average body weight was 690 g. A comparison group consisted of 52 temporally proximal autopsies of fetuses and neonates without hematomas. Body weights, gender, maternal age, and stillbirth or postnatal survival were matched as closely as possible while evaluating the presence or absence of sepsis, pneumothorax, cerebral germinal matrix hemorrhage, trauma, coagulopathy, placental lesions, and maternal diseases. Sepsis was associated with 62% of the cases with hepatic subcapsular hematomas and with 25% of the comparison group (P =.0001). Group B streptococcus infection was the most common cause of sepsis, but many different organisms were isolated. Cerebral germinal matrix hemorrhages were present in 35% of the cases with hematomas and in 14% of the comparison group (P =.0001). No other lesions or conditions were statistically different in the study group versus the comparison group. The delicacy of the hepatic capsule and its connections to the collagen along the sinusoids provide insight for the pathogenesis of hematomas in premature fetuses and neonates. We conclude that sepsis is present in most perinatal cases of hepatic subcapsular hematomas and that such patients also frequently have cerebral germinal matrix hemorrhages. Each of these lesions is a greater hazard among very small premature fetuses or neonates than among older fetuses and neonates.

Adult↗
PubMedDate not supplied

In utero development of hypertensive necrotizing pulmonary arterial lesions: report of a case associated with premature closure of the ductus arteriosus and pulmonary hypoplasia.

Premature closure of the ductus arteriosus (PCDA) is an uncommon defect in which pulmonary hypertension (PH) has been documented by echocardiography in patients and by direct measurement after experimental PCDA in animals. The pulmonary vascular histology in human cases has received little attention but in the few recorded observations the vessels were either normal or showed increased muscularity. We report the case of a 31 week hydropic female stillborn monozygotic twin in whom postmortem examination disclosed PCDA and hypoplasia of the lungs. Atypical plexiform lesions with necrotizing pulmonary arteritis were present. These lesions represent vascular consequences of severe pulmonary hypertension produced by greatly enhanced blood flow through a restricted vascular bed resulting from the combined effects of these two abnormalities. The findings in this case of PCDA with presumed severe PH indicate that severe pulmonary vascular changes can develop in utero and that the interval of time needed for development of such chances in secondary PH is relatively short.

Arteritis↗
PubMedDate not supplied

Liver and brain iron deficiency in newborn infants with bilateral renal agenesis (Potter's syndrome).

Significant changes in fetal iron status potentially occur in pregnancies in which reduced fetal nutrient delivery is severe enough to result in intrauterine growth retardation (IUGR), particularly if chronic fetal hypoxia is also present and increases fetal iron demand for hemoglobin synthesis. Neonates rarely die following IUGR secondary to maternal preeclampsia, but bilateral renal agenesis, which is also characterized by reduced maternal-fetal blood flow, late gestation placental failure, and IUGR, is uniformly fatal. We measured neonatal liver iron concentration, as an assessment of fetal storage iron status, and heart and brain iron concentrations, as assessments of nonheme tissue iron status, in 11 infants who died in the neonatal period of bilateral renal agenesis, and compared them with values for gestational age-matched control infants whose gestation was not complicated by fetal growth retardation or hypoxia. Stainable nonheme iron in the hepatocytes was significantly reduced in all and completely absent in 8 of the 11 cases of renal agenesis (P < .001 compared with control). The mean +/- SEM liver iron concentration of the bilateral renal agenesis group (999 +/- 218 micrograms/g dry tissue weight) was 26% of the control value (3894 +/- 548 micrograms/g dry tissue weight; P < .001). Brain iron concentration was also lower in the group with bilateral renal agenesis (109 +/- 17 vs. 161 +/- 19; P = .015) and was correlated with liver iron concentration (r = .47; P = .03). Heart iron concentrations were similar in the two groups. Nine of the subjects with bilateral renal agenesis had placental weights below the fifth percentile for gestational age. The bilateral renal agenesis group had a lower mean birth weight (P < .001) and had a higher prevalence of fetal growth retardation (55% vs. 0%; P < .001). We conclude that infants with bilateral renal agenesis are at risk for severe iron deficiency of storage and nonstorage tissues. Liveborn infants with nonfatal fetal conditions characterized by significant restriction of maternal-fetal blood flow may also be at significant risk for postnatal iron deficiency.

Brain↗
PubMedDate not supplied

Reference values for singleton and twin placental weights.

The largest series of normal singleton placental weights was collected in the Collaborative Perinatal Study between the years 1959 and 1966 but values for normal twin placental weights were not published. In our study we examined 787 singleton and 514 twin normal placentas. Placentas with associated conditions known to affect the weights of placentas were excluded. After establishing the normal values for singleton and twin placental weights, we concluded that weight gain of twin placentas appears to accelerate between 24 and 36 weeks but reaches a plateau after 37 weeks, whereas singleton placentas appear to gain weight more uniformly throughout gestation. The mean values of twin placental weights for each gestational age are less than double those of singleton placental weights for the same duration of gestation. Our singleton and twin placentas are heavier than those from previously published data and may reflect a generational or nutritional change over the 30 years since the original numbers were compiled.

Humans↗
PubMedDate not supplied

Juxtagonadal mesonephric glomeruli in fetuses of 11 to 21 weeks of gestation.

Mesonephric glomeruli and tubules were found in the juxtagonadal region in 11 fetuses ranging in age from 11 to 21 postmenstrual weeks. Although mesonephric excretory function into the fourth month of gestation has been postulated, mesonephric glomeruli have been previously acknowledged anatomically only during embryonal and early fetal life. The present observations indicate that mesonephric glomeruli persist as anatomical structures into the midtrimester of gestation. The conclusion that the observed glomeruli are mesonephric is based on their location and the known strong anatomical and functional ties that bind mesonephros and gonad during development.

Female↗
PubMedDate not supplied

Diagnosis and incidence of fetal parvovirus infection in an autopsy series: I. Histology.

This study was undertaken to obtain additional information about the incidence and characteristics of fetal parvovirus B19 infection in an unselected autopsy series, and to assess the distribution and quantitation of inclusions in various organs. Autopsy records from 673 fetal and neonatal autopsies performed at Women and Infants' Hospital during 1985 through 1990 were reviewed. Thirty-two cases of hydrops fetalis were identified, and, of these, 5 had parvovirus infection. This gives an incidence of fetal parvovirus infection resulting in hydrops fetalis of 0.7% among all autopsies, and a 16% incidence among cases of hydrops. Thirty-five percent of the cases of hydrops had malformations; a muscular ventricular septal defect was noted in one of the 5 cases of parvovirus infection. All 5 parvovirus cases had characteristic erythroid nuclear inclusions, and these inclusions were resistant to tissue degenerative changes. The most reliable tissue for histologic diagnosis was the liver, followed by heart and lung. Only 2 of 5 placentas had diagnostic inclusions, making examination of the placenta alone insufficient for ruling out fetal parvovirus infection.

Autopsy↗
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Diagnosis and incidence of fetal parvovirus infection in an autopsy series: II. DNA amplification.

This study evaluates the practical utility of the polymerase chain reaction (PCR) as a diagnostic method for intrauterine fetal parvovirus infection in cases of hydrops fetalis. Paraffin-embedded, formalin-fixed fetal tissues from cases of hydrops fetalis were assessed for parvovirus B19 by histology and PCR in conjunction with 32P hybridization. Of 673 fetal and neonatal autopsies performed at Women and Infants' Hospital for the years 1985 through 1990, 32 cases were determined to have hydrops fetalis, of which five were positive for parvovirus infection by both histology and the PCR. PCR was not used in seven (22%) of the 32 hydrops cases because 1 microgram of DNA was not available for study. Histology was as sensitive as PCR in detecting parvovirus B19 in fetal autopsy tissues from cases of hydrops fetalis, and could be used reliably in each case to diagnose parvovirus infection. In our hands, histology is as sensitive as PCR and less labor-intensive. We would reserve PCR for cases without inclusions and with a strong suspicion of parvovirus infection, or for fluids in which histological analysis is not available.

Autopsy↗
PubMedDate not supplied

46,XX gonadal agenesis in a neonate with multiple congenital anomalies: case report and review of the literature.

We report a neonate with 46,XX gonadal agenesis, a rare disorder, confirmed by autopsy, karyotype determination, and fluorescent in situ hybridization examination of intact cells. Multiple other anomalies, including diaphragmatic hernia, a doomed bicuspid aortic valve, and müllerian derivative defects, were present. There was no sexual ambiguity. The age of this patient and the presence of anatomically dispersed congenital anomalies are unique among reported examples of 46,XX gonadal agenesis. Review of the literature reveals that all five previously reported cytogenetically confirmed patients with 46,XX gonadal agenesis were 17 to 25 years of age, none were diagnosed before their teens, all had female phenotype with sexual infantilism, three had müllerian derivative anomalies, and none had nongenitourinary anomalies. The abnormalities in this case may represent a polytopic field defect due to unknown insults occurring at approximately 6 weeks of developmental age.

Abnormalities, Multiple↗
PubMedDate not supplied

A normative study of obstetric complications associated with fetal trisomy 18.

Our objective was to determine whether the cesarean section rate and amniotic fluid lecithin-sphingomyelin ratio (L/S ratio) associated with fetal trisomy 18 are different from those associated with euploid pregnancies. Forty-nine trisomy 18 pregnancies were identified and their records were reviewed. Of the 22 live-born infants, 15 (68%) were delivered by cesarean section. The overall cesarean section rate for the institution ranged from 19.1% to 22.6%. In five patients with gestational ages between 35 and 38 weeks who had amniocentesis as part of the evaluation of intrauterine growth retardation, the L/S ratios were < or = 1.8. These data confirm that undiagnosed trisomy 18 pregnancies are associated with an increased cesarean section rate. Further, trisomy 18 fetuses appear to have delayed maturation of the L/S ratio. These results reinforce the importance of a karyotypic evaluation of selected pregnancies complicated by intrauterine growth retardation, even in the third trimester, and suggest that the prenatal diagnosis of trisomy 18 is of obstetric importance.

Amniocentesis↗