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Biomedical subjects

F Field

Publications and source records attributed to F Field.

16 recordsLinked to original sources
PubMed2004

A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14.

Spondylocarpotarsal synostosis syndrome is a rare autosomal recessive disorder characterised by vertebral fusions, frequently manifesting as an unsegmented vertebral bar, as well as fusions of the carpal and tarsal bones. In a study of three consanguineous families and one non-consanguineous family, linkage analysis was used to establish the chromosomal location of the disease gene. Linkage analysis localised the disease gene to chromosome 3p14. A maximum lod score of 6.49 (q = 0) was obtained for the marker at locus D3S3532 on chromosome 3p. Recombination mapping narrowed the linked region to the 5.7 cM genetic interval between the markers at loci D3S3724 and D3S1300. A common region of homozygosity was found between the markers at loci D3S3724 and D3S1300, defining a physical interval of approximately 4 million base pairs likely to contain the disease gene. Identification of the gene responsible for this disorder will provide insight into the genes that play a role in the formation of the vertebral column and joints.

Carpal Bones↗
PubMed1991

Right ventricular dysplasia associated with sudden death in young adults.

The frequency of right ventricular dysplasia (RVD) in an autopsy series of young persons with sudden cardiac death in the United States has not been previously reported. We reviewed the autopsies from cases of sudden cardiac deaths in young adults in the state of Maryland and noted three cases of RVD among 547 cardiac deaths (0.55%). These three cases of RVD in young adults and three additional cases from our file are presented. Their ages ranged from 19 to 28 yr, and there were five males and one female. Five deaths occurred during strenuous exercise while the sixth was unwitnessed. Three of these cases had a documented history of arrhythmias and 1 had palpitations. In each case, autopsy revealed right ventricular dilatation with partial absence of the myocardium and extensive fatty infiltrates with and without fibrosis. In four cases, collections of chronic lymphocytic infiltrates were seen, of which two had associated myocyte necrosis. In one patient, the disease was familial, while in the remaining five it was sporadic, suggesting a nongenetic cause.

Adult↗
PubMed1988

Identification of 19-hydroxy-progesterone in human placenta.

We have tentatively demonstrated the presence of a 19-hydroxylated C21 steroid, 19-hydroxy-progesterone, in normal human placenta. A 19-hydroxylated steroid such as 19-hydroxy-progesterone, if produced by the placenta, could serve as a precursor for such hypertensinogenic 19-nor-steroids as 19-nor-deoxycorticosterone and 19-nor-progesterone. Freshly delivered, homogenized placental tissue was extracted and subjected to thin layer chromatography. A steroid corresponding to standard 19-hydroxy-progesterone was subsequently purified in HPLC, where authentic 19-hydroxy-progesterone and the sample had the same retention time. The identity of the sample was further confirmed by repeat HPLC after acetylation and mass spectrometry. Our experiment indicates that 19-hydroxy-progesterone is present in term placental tissue, where it appears to be synthesized.

Acetylation↗
PubMed1986

Population screening for cholesterol determination. A pilot study.

A screening for plasma cholesterol levels was conducted at six sites in the New York metropolitan area and involved hospitals, health professionals, paraprofessionals, media experts, and instruments that provided cholesterol levels rapidly. During the five days of the testing, over 12,000 participants were screened. Because the program was limited to customary working hours and because of self-selection of participants, the subjects were probably an unusually health-conscious group as evidenced by the low prevalence of cigarette smokers (11%). Nevertheless, 12% were at moderate risk and 16% were at high risk for coronary heart disease. Approximately half of the population reported never having had their cholesterol levels tested, and over 40% had no idea what levels were optimal. A subsample of patients at risk was screened by telephone survey. In the majority of cases, when a patient's physician was consulted for advice, no action was recommended. Our results demonstrate that a large population screening can be implemented, that at least certain segments of the public will respond to such a program, and that educational efforts must be directed at both the public at large and physicians.

Adult↗
PubMedDate not supplied

Prenatal diagnosis of X-linked ichthyosis using molecular cytogenetics.

A case is presented in which X-linked ichthyosis was diagnosed prenatally using fluorescence in situ hybridization. Fetal sex was known by second trimester ultrasound in a woman with very low second trimester MSUE3. All of the 15 maternal peripheral blood metaphase spreads examined displayed two hybridization signals on one X chromosome (one in the steroid sulfatase region (Xp22.3) and one in the centromeric region), but only one hybridization signal (in the X centromeric region) on the other X chromosome. Thus, one of the X chromosome had a deletion in the Xp22.3 region, a result which was consistent with carrier status for steroid sulfatase deficiency and X-linked ichthyosis. In the 15 metaphase spreads that were examined from the amniotic fluid sample, the X chromosome displayed one hybridization signal in the control region, but no hybridization signal in the steroid sulfatase region. Thus, the X chromosome of this male fetus had a deletion in the steroid sulfatase region, a result that was consistent and demonstrated postpartum X-linked ichthyosis.

Adult↗