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Biomedical subjects

D B Flannery

Publications and source records attributed to D B Flannery.

At least 37 records · Page 2Linked to original sources
PubMed1986

Association of low blood manganese concentrations with epilepsy.

A comparison of hospitalized epileptic patients with matched normals showed that the mean whole blood manganese (Mn) concentration of the epileptic population was significantly lower than the mean of the normal population. The whole blood Mn concentration in the epileptics did not correlate either with seizure frequency or with anticonvulsant therapy. It was observed, however, that patients whose epilepsy was a result of trauma had significantly higher blood Mn concentrations than patients whose history was negative for trauma.

Adolescent↗
PubMed1985

Amino acids in amniotic fluid in the second trimester of gestation.

The concentrations of amino acids in amniotic fluid have been used in the prenatal diagnosis of several inherited metabolic disorders. However, previous studies have usually examined only a small number of control amniotic fluid samples. We have, therefore, measured the amino acids in amniotic fluid samples from 183 normal pregnancies between the 13th and the 23rd wk gestation of women ranging in age from 17 to 43 yr. The concentrations of Ala, Lys, Val, Glu, Pro, Thr, and Gly, in descending order, accounted for about 70% of the amino acids in amniotic fluids. A negative correlation with gestational age (-0.34 to -0.24) was found for Leu, Val, Ile, Phe, Lys, Ala, Asp, Tyr, Glu, and Pro, with Leu showing the greatest rate of change. The concentration of Gln increased slightly (r = 0.18), whereas the other amino acids did not change significantly during this period. Statistically significant positive correlations, at all gestational ages, were observed among Val, Leu, and Ile. These branched-chain amino acids also correlated positively with Phe, Lys, Asp, Thr, Ser, Glu, Pro, Gly, Ala, and Tyr, and the amino acids within this group correlated with each other. Additionally, strong positive correlations were observed between Phe and Tyr and between Gly and Ser. No significant correlations were found between any of the amino acids and maternal age or fetal sex. Significant positive correlations between amino acids may be indicative of common transport or degradative pathways and suggest that maintenance of specific relative concentrations in amniotic fluid may be essential for normal fetal development.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1985

Nucleolar organizer region variants as a risk factor for Down syndrome.

An unusual nucleolar organizer region (NOR) heteromorphism was noted among 13 of 41 parents in whom nondisjunction leading to trisomy 21 was known to have occurred. In contrast, only one of these double NOR (dNOR) variants was found among the 41 normal spouses and none were seen among 50 control individuals. In two dNOR(+) families, a second child with trisomy 21 was conceived. In both families, the extra chromosome in each child was contributed by the parent who carried the dNOR variant and resulted from a recurrent meiosis I error. Our data suggest that the dNOR heteromorphism may play a role in meiotic nondisjunction and could be associated with as much as a 20-fold increased risk for having offspring with trisomy 21.

Child↗
PubMed1984

Antenatally detected Klinefelter's syndrome in twins.

An increased incidence of twinning has been reported among patients with Klinefelter's syndrome (XXY) and their relatives, but no data have been reported about the incidence of XXY among twins. Results from our institution's antenatal testing clinic provide data about twins and XXY. In 1842 pregnancies tested, 21 were noted to be twin gestations. Five fetuses with XXY were detected in all pregnancies, of which there was a pair of MZ twins concordant for XXY and a pair of DZ twins discordant for XXY. The incidence of XXY in twins was thus 7,1%. The fetal phenotype of XXY was examined in aborted MZ twins and found to be mild. Notably, the testicular histology was normal. These cases confirm the previously reported association of twinning and XXY. The association of twinning and XXY implies a commonality of causation; however, a maternal age effect cannot be excluded. Our data suggest that there is an increased risk of XXY among twins.

Adult↗
PubMed1984

Short rib-polydactyly syndrome type II (Majewski syndrome): a case report.

The Majewski type of Short Rib-Polydactyly syndrome is a rare lethal dwarfism syndrome that has recently been recognized as a distinct entity. The full range of associated anomalies remains to be described. This case report details the clinical and autopsy findings in this condition and reviews the differential diagnosis of polydactylous dwarfing syndromes.

Female↗
PubMed1983

Cheirolumbar dysostosis: a phenotype of pseudohypoparathyroidism.

Cheirolumbar dysostosis is a skeletal dysplasia characterized by brachydactyly and stenosis of the lumbar vertebral canal. Our recent experience with a patient having these clinical features indicates that this condition may be a phenotype of pseudohypoparathyroidism, rather than a distinct entity.

Child↗
PubMedDate not supplied

Tests appropriate for the prenatal diagnosis of ataxia telangiectasia.

A fetus 'at-risk' for ataxia telangiectasia (A-T) was monitored prenatally by several approaches which, in concert, might yield information of diagnostic value: measurement of amniotic fluid AFP levels; the clastogenic potential of 'at-risk' amniotic fluid; and cytogenic evaluation of fetal amniocytes. All three parameters proved negative and normality, based primarily on the chromosomal study of fetal cells, was therefore presumed. This conclusion was confirmed shortly after birth by normal serum AFP levels and the lack of increased spontaneous or clastogen-induced chromosome breakage in the infant's cells. Based on previous observations from four normal and one affected fetus, the coordination of these techniques provides adequate methodology for the antenatal assessment of the phenotypes associated with A-T.

Adult↗