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Biomedical subjects

T Reed

Publications and source records attributed to T Reed.

At least 109 records · Page 6Linked to original sources

Dermatoglyphic features in Prader-Willi syndrome with respect to chromosomal findings.

Dermatoglyphic findings were compared in 38 Prader-Willi syndrome (PWS) patients and 270 normal controls. Twenty-one of the PWS patients had an interstitial deletion of the proximal long arm of chromosome 15 and seventeen PWS cases had normal chromosomes. Findings in PWS are not diagnostic but do show some consistent deviations that can be used in the clinical evaluation of PWS patients. These include a displacement of the axial triradius away from the normal proximal position, an excess of whorls primarily on the thumbs, radial termination of the palmar A mainline, and lack of arches on the big toe. Deletion PWS patients were much more homogeneous than non-deletion cases with respect to plantar patterns. The previously reported deficit of plantar pattern intensity was restricted only to deletion PWS and was characterized by a lack of plantar interdigital II-IV patterns with almost exclusively hallucal distal loops.

Adolescent↗

Absence of dermal ridge patterns: genetic heterogeneity.

An apparently new form of complete absence of dermal ridge patterns was transmitted as an autosomal dominant trait through five generations in an Irish-American family. Affected individuals lacked dermatoglyphic patterns, sweat pores, and ability to sweat in the volar areas of the fingertips, palms, and soles. They also had congenital milia and blisters on the fingertips and soles at birth, abnormal nails, single transverse palmar creases, increased heat tolerance, and painful fissures in adult life around the fingernails in cold weather.

Dermatoglyphics↗

The dermatoglyphic and clinical features of the 9p trisomy and partial 9p monosomy syndromes.

The physical and dermatoglyphic features obtained from published reports of 128 patients with the trisomy 9p syndrome and 27 patients with the partial 9p monosomy syndrome are tabulated. This information is also provided on two new individuals with each of these chromosomal disorders. The dermal ridge patterns and palmar creases of trisomy 9p which are most helpful from a diagnostic standpoint are zygodactylous or absent palmar digital triradii, brachymesophalangy, reduced total finger ridge count, complex thenar/ID I patterns, transverse palmar ridge alignment, simian creases, distal axial triradii, and great toe and hallucal arch patterns. The characteristic features in partial 9p monosomy include dolichomesophalangy with accessory finger flexion creases, digital whorl patterns and elevated total finger ridge count, distal axial triradii, simian creases, and palmar dermal ridge dissociation.

Aneuploidy↗

Dermatoglyphics in medicine--problems and use in suspected chromosome abnormalities.

Dermatoglyphic findings in patients with chromosome abnormalities are reviewed including the more common aneuploidies and recently recognized deficiency and duplication syndromes. Tables of dermatoglyphic changes are provided to help in the diagnosis of patients with suspected chromosome abnormalities. Finally, problems of dermatoglyphic nomenclature and statistics are considered. It is emphasized that dermatoglyphics should be used in conjunction with the physical examination rather than as an independent diagnostic test.

Child↗

Application of the major gene index and offspring-between-parents function to dermatoglyphic fingertip variables.

Forty-eight digital dermatoglyphic variables in 192 nuclear families were analyzed to search for evidence of major gene effects, utilizing a pair of recently developed statistics called the major gene index (MGI) and offspring-between-parents (OBP) function. They operate on the principle that under a multifactorial blending inheritance scheme an offspring's phenotypic value approximates the midparental value, whereas under major gene inheritance, the child's value more closely resembles that of one of his parents. Both statistics yielded comparable results. All ridge-count variables showed no strong deviation from a multifactorial model. Pattern-type variables gave values suggesting the presence of major gene effects, but these results were probably the consequence of the variables' relatively discrete distributions, since a departure of a variable from a reasonably continuous phenotypic distribution was shown to interfere significantly with the interpretation of both statistics.

Chromosome Mapping↗

Maternal age and dermatoglyphic asymmetry in man: another look.

The effect of maternal age on the degree of bilateral asymmetry found in digital ridge counts was explored as a possible explanation for a previously detected maternal effect, where significantly less variation was observed in thumb ridge counts between the two sibships within families of female monozygotic (MZ) twins than between sibships within families of male MZ twins. Contrary to a previous report which found a tendency for ridge count asymmetry to increase with maternal age, this study could show no such relationship. It was concluded that while the exact nature of the maternal effect noted for thumb ridge counts is unclear, it is little influenced by maternal age.

Adult↗

Challenging some "common wisdom" on drug abuse.

There are many myths that prevail on drug abuse, myths that have often had a great influence on policy making and legislation. This article highlights research which challenges some popularly held beliefs about addiction. In so doing, it hopes to underscore the continuing need to examine critically what emerges as "common wisdom" about drug abuse.

Attitude↗

Quantitative twin analysis of radial and ulnar ridge counts and ridge count diversity.

Analysis of variance was performed on the radial and ulnar finger ridge counts and ridge count diversity index in 360 twin sets from which estimates of genetic variance were obtained. Findings for radial and ulnar counts paralleled those previously obtained for finger pattern type and ridge count (larger of radial and ulnar count). In contrast, ridge count diversity showed no indication of unequal total variances, as previously found for the total ridge count. One must be cautious not to exclude genetic influences on traits, such as the thumb variables in this study, where there are unequal total variances between monozygotic and dizygotic twins and the more conservative estimate of genetic variance is not significant.

Analysis of Variance↗

Genetic linkage analysis of hemoglobin variants in 175 families.

Linkage analysis using the LIPED program developed by Ott for the analysis of whole family data was performed on 175 families with variants of the hemoglobin beta- or gamma-chain. Comparison of our results with those in the literature indicate that there is little evidence for linkage with any of the currently used markers, although there is considerable heterogeneity in lod scores between sexes for the Duffy and MNS blood groups. It is suggested that the most successful approach in the future will be to analyze markers known to be localized on chromosomes which have been indicated as likely sites of the beta-chain locus from hybridization studies.

Duffy Blood-Group System↗

Maternal effects on fingertip dermatoglyphics.

Significantly larger variation between sibships within families of male MZ twins than between sibships within families of female MZ twins, indicative of maternal influences, was found for 10 of 41 dermatoglyphic fingertip variables. Of these, five were thumb-related with the effect primarily on the thumb radial and ridge count (larger of radial and ulnar count). These same variables were previously found to have unequal variances in MZ twins of known placental type, and the results indicate maternal influences in singletons as well as twins for these variables. Although the total ridge count (TRC), previously shown to differ in MZ twins of known placental type (paralleling the thumb radial and ridge counts) did not reach significance, the trend indicated that the observed thumb changes may be reflected in the TRC as well. Little finger pattern type and ulnar counts also showed less variability in families of female MZ twins, but the interpretation is complicated by the concomitant differences in mean squares within-sibships for these little finger variables.

Dermatoglyphics↗

Photoselection and aggregation in purple membrane of Halobacterium halobium.

Preparations of the purple membrane of Halobacterium halobium suspended in dilute buffer and basal salt have been examined by circular dichroism spectroscopy and correlation analysis of scattered laser light. Dark adapted samples suspended in basal salt show photoselection when examined by circular dichroism. This was confirmed by irradiation with plane polarized light. Light-adapted samples or dark-adapted samples suspended in dilute buffer did not show this phenomenon. The reaction responsible for photoselection was shown to be the light induced cis-trans isomerization of bacteriorhodopsin. The stability of the induced anisotropy was due to aggregation in the basal salt suspensions which occurred despite little or no visual indication. This aggregation was confirmed by correlation analysis of scattered laser light.

Bacteriorhodopsins↗

Clinical experience with trisomies 18 and 13.

The clinical, cytogenetic, dermatoglyphic, and postmortem observations of the 29 cases of trisomy 18 and 19 cases of trisomy 13 seen in the Department of Medical Genetics from 1963-76 are summarised. Chromosomes were studied in all and 30 were banded. One patient had tertiary trisomy 18 and 8 had translocations of chromosome 13. The features of these patients are described and the syndromes compared with each other and summaries found in the literature.

Chromosome Aberrations↗