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Biomedical subjects

D M Becroft

Publications and source records attributed to D M Becroft.

At least 55 records · Page 3Linked to original sources

Perinatal visceral fibrosis accompanying the megakaryoblastic leukemoid reaction of Down syndrome.

Two infants with Down syndrome, one 4 weeks old and the other stillborn, at necropsy showed hepatic and pancreatic fibrosis, which was very severe in the liver of the liveborn infant and in the pancreas of the stillbirth. The liveborn infant had typical hematological features of the transient congenital leukemoid reaction of Down syndrome, and the identification of a megakaryoblastic component was consistent with recent opinion that this is a spontaneously-remitting congenital megakaryoblastic leukemia. The hydropic stillborn infant had intense extramedullary megakaryocytosis. The visceral fibrosis may have had a pathogenesis similar to that postulated for the myelofibrosis of megakaryoblastic leukemia in older children.

Down Syndrome↗

Prenatal cranial haemorrhages in 47 Pacific Islander infants: is traditional massage the cause?

Intracranial haemorrhage is usually a very rare occurrence in the fetus before the onset of labour but we have identified major, mostly subdural, prenatal intracranial haemorrhages in 47 infants of immigrant Pacific Islander parentage. Forty-four infants have been stillborn and the numbers from 1983 to 1986 were sufficient to account for the stillbirth rate for Pacific Islanders in Auckland being approximately 60% higher than rates for Europeans or Maoris. Two of three liveborn infants survived with neurological sequelae. Similar haemorrhages may be the cause of a congenital hydrocephalus in Pacific Islanders. A bleeding disorder can be excluded in most cases, as can trauma from accidents or assaults. Trauma during attempts at cephalic version of breech presentations by traditional methods could explain why 53% of deliveries were breech and other pathological and clinical features. Advice at antenatal clinics about possible dangers of traditional massage has coincided with a reduction in the incidence of haemorrhages since 1986.

Adult↗

Congenital hydrocephalus secondary to prenatal intracranial haemorrhage.

A high incidence of intracranial haemorrhage in utero of uncertain aetiology has been previously identified as an important cause of stillbirth in infants of immigrant Pacific Islanders in New Zealand. Congenital hydrocephalus is now described as a consequence of intracranial haemorrhage in 2 stillborn Pacific Islander infants. A large intracerebral haemorrhage, hydrocephalus and hydrops in one infant was first recognized prenatally by ultrasonography and caused intrauterine death at 26 weeks' gestation. Severe hydrocephalus in the other infant was first identified just before labour at term but the pathological findings were of old intraventricular haemorrhage with narrowing of the aqueduct of Sylvius as a reaction to the haemorrhage. Prior intracranial haemorrhage may be the cause of an increased incidence of hydrocephalus in Pacific Islander stillbirths and of some otherwise unexplained cases of congenital hydrocephalus in other races.

Cerebral Hemorrhage↗

Postneonatal mortality review in Auckland: two years experience.

Postneonatal deaths in the Auckland Region in 1984 and 1985 were reviewed. There were 134 deaths and most deaths could be placed into four broad categories, namely sudden infant death syndrome (SIDS, 80 60%), congenital anomalies (24, 18%), infections (9, 7%) and problems arising in the perinatal period (8, 6%). There was good agreement with the cause of death as recorded by the National Health Statistics Centre (98.5%) Potentially preventable causes of death were infrequent (14, 10%), but notable factors were present in 90% of SIDS. For SIDS cases the following notable factors were identifiable: young mothers, Maori, low socioeconomic status, poor accommodation, frequent changes of address, maternal smoking, previous postneonatal death, poor antenatal care, male infant, low birth weight, twin, poor infant weight gain.

Cause of Death↗

Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acid.

Normal amniocytes and chorionic villous cells in culture are able to produce 14CO2 from exogenous [1-14C] phytanic acid. In contrast, cells from four fetuses at risk for the cerebro-hepato-renal (Zellweger) syndrome and related disorders showed a greatly reduced activity, indicating a block in oxidation of the fatty acid. Our data confirm that phytanic acid oxidase activity measurement can be used for the prenatal assessment of this group of disorders.

Adult↗

Intrauterine aplastic anemia and fetal hydrops: a case report.

Fetal hydrops developed in the 8-day interval between two ultrasonographic examinations of a pregnant woman who had presented with a revealed placental abruption. Chronic ulcerative colitis had been treated with oral prednisone and sulfasalazine until the second month of pregnancy and then with prednisone only. An autolysed hydropic fetus was delivered at 26 weeks gestation. No hematopoietic tissue was identified in the small pale fetal liver, in the bone marrow, or in other organs. No cause for hydrops other than the aplastic anemia was identified.

Abruptio Placentae↗

A mitotic recombination in Wilms tumor occurs between the parathyroid hormone locus and 11p13.

Wilms tumor is believed to occur as the result of two mutations affecting both alleles of a critical gene located within the p13 band of chromosome 11 (Knudson and Strong 1972; Riccardi et al. 1978). Several mechanisms by which these mutations occur have already been determined in retinoblastoma (Cavenee et al. 1983) and Wilms tumor (Koufos et al. 1984; Orkin et al. 1984; Reeve et al. 1984; Fearon et al. 1984a; Eccles et al. 1984). Of the various mechanisms, however, no example of a mitotic recombination was demonstrated in Wilms tumor. An example is presented here which has been detected by the use of restriction fragment length polymorphisms (RFLPs) mapping to chromosome 11p. In addition the data presented are consistent with the mapping location of parathyroid hormone (PTH) being proximal to 11p13.

Chromosome Mapping↗

Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency.

Protein loading tests for the diagnosis of heterozygous ornithine carbamoyltransferase deficiency were performed on two occasions on an asymptomatic woman whose daughter and two infant sons died of the disease. Neither loading test produced the expected increases in urinary orotic acid excretion and studies of other pyrimidine and purine metabolites in urine and plasma did not suggest that these would provide better discrimination from non-carriers. The results probably reflect an extensive inactivation of the mutant X chromosome in liver cells and reinforce the need for caution in interpreting negative test results.

Adult↗

Unexplained intracranial haemorrhage in utero: the battered fetus?

Twenty stillborn infants with unexplained intracranial haemorrhages were identified in a review of approximately 3,500 perinatal postmortems performed between 1966 and 1982. After apparently uneventful pregnancies, fetal death occurred before the onset of labour and was recognized at a mean of 10 days before delivery; 80% had subdural haemorrhages, others had intraventricular and/or intracerebral haemorrhages, and many had haemorrhages at more than one of these sites. These haemorrhages were of sufficient size to have caused death and no other causes were found at postmortem examinations. All 20 mothers were immigrants to New Zealand from the Pacific Islands and almost all were older, married, multi-gravidas with uneventful medical histories and in stable socio-economic circumstances. In the period studied the incidence of stillbirths with unexplained intracranial haemorrhages was 1.15 per 1,000 Pacific Islander births and, at one hospital, these haemorrhages were found in 14.6% of Pacific Islander stillbirths. There were no unexplained intracranial haemorrhages in other racial groups. Prenatal subdural haemorrhage without a history of maternal trauma is extremely rare. In the absence of supporting maternal histories and other fetal or maternal injuries the possibility that these are 'battered' fetuses remains circumstantial.

Adult↗

Pyrimidine and purine metabolites in ornithine carbamoyl transferase deficiency.

Detailed biochemical studies have been carried out in a female heterozygote for ornithine carbamoyl-transferase (OCT) deficiency. Increased levels of the pyrimidines, orotic acid, uridine and uracil, were observed in plasma as well as urine by utilizing an adaptation of high performance liquid chromatography (HPLC). Urinary clearances of these compounds were high, that of orotic acid indicating net secretion. Urinary uric acid clearance was also elevated, a finding attributed to the uricosuric effect of the orotic acid excreted concomitantly. The results in this child and her family are typical of OCT deficiency. They confirm considerable genetic heterogeneity in the biochemical as well as clinical expression in this defect.

Child↗