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Biomedical subjects

C R Hughes

Publications and source records attributed to C R Hughes.

At least 19 recordsLinked to original sources
PubMed2000

Mild phenotype due to tandem duplication of l7p11.2.

We present a mildly affected girl with de novo dup(17)(p11.2p11.2). The patient was evaluated because of minor anomalies noted during a hospitalization for nonrecurrent tonic-clonic seizures associated with transient hypoglycemia. She also had unilateral renal hypoplasia and relative short stature, but at 2 years of age, she scored within the low normal range on neurodevelopmental examinations. Compared with other similar duplications, this patient represents the milder range of the spectrum for this karyotypic abnormality. Am. J. Med. Genet. 94:296-299, 2000.

Adult↗
PubMed1999

Early house moves, indoor air, heating methods and asthma.

OBJECTIVES: To assess whether house moves or certain housing conditions are a risk factor for the development of childhood asthma. DESIGN: A case-control study of asthmatic and non-atopic children aged 4-16 years. SUBJECTS: One hundred children with confirmed asthma in a group general practice of 11000 patients in Plymouth, U.K. Each was matched by age and gender with a child with no history of wheeze, eczema or hay fever. MAIN OUTCOME MEASURES: House moves and main heating methods, prior to the age of onset of asthma in cases and controls. RESULTS: There was a non-significant association between early house moves and the subsequent development of asthma. No association was found with heating methods, except for ducted-air heating which, because of the small numbers involved could have occurred by chance. None of the other factors studied affecting indoor air showed an association. CONCLUSION: Moving house at an early age may increase the risk of developing asthma, or may be associated with other more important risk factors, such as increased general mobility and hence, exposure to viral infections. Heating methods or other factors likely to affect the indoor air quality in early life were not useful predictors of subsequent asthma in children.

Adolescent↗
PubMed1998

Using chronotherapy to treat severe sleep problems: a case study.

Chronotherapy was used to treat severe sleep problems (irregular sleep onset times, frequent night and early wakings, and short total sleep times) in a girl with mental retardation. Chronotherapy involved systematically delaying the child's bedtime each night while maintaining a regular schedule during waking hours until an age-appropriate bedtime was achieved. Immediate improvements in the child's sleep pattern were observed with the introduction of treatment, and an age-appropriate bedtime was achieved in 11 days. Four months of follow-up data indicated that improvements maintained in the home. Although chronotherapy was developed specifically for adults with delayed sleep phase insomnia, the current results suggest that the treatment may be useful for other populations and problems.

Child↗
PubMed1997

Trinucleotide microsatellite loci and increased heterozygosity in cross-species applications in the social wasp, Polistes.

Though microsatellite loci are usually found to be most polymorphic in the species in which they are first identified, we have found significant increases in polymorphisms in some cross-species applications. We present eight new trinucleotide microsatellite loci derived from two species of social wasps, Polistes annularis and Polistes bellicosus. We assessed the primers designed from these species and the degree of polymorphism in two additional species, P. dorsalis, which is very closely related to P. bellicosus, and P. dominulus, which is an Old World congener, thought to have diverged from New World Polistes over 80 million years ago. Cross-species applications for these microsatellite loci indicate that the priming sites from P. bellicosus loci are conserved in P. dorsalis and amplified similarly sized products with higher heterozygosities than the original species in two of three cases. A locus that was monomorphic in P. annularis had a heterozygosity of 1.0 in the distantly related P. dominulus. Cross-species applications of these loci indicated that alleles were generally of similar lengths in the new and original species when they retained their heterozygosity.

Alleles↗
PubMed1997

Developing microsatellites when they are rare: trinucleotide repeat loci in the northern mockingbird Mimus polyglottos.

The great value of microsatellite loci to population studies spurs their development. However, finding loci is difficult when microsatellites are uncommon in the genome. Because trinucleotide-repeat loci are rare in northern mockingbirds Mimus polyglottos, we sought a new method for developing a suite of loci. Here we show that a bacterio-phage cloning vector, Lambda Zap Express (Stratagene, La Jolla, CA, USA) has several features which make it suitable for this purpose. Using this vector, we made a library of 150,000 size-selected clones and screened with an AAT10 probe; 97 positives were identified. From these, 12 pairs of PCR primers were developed, nine of which amplify polymorphic loci. Certain combinations of these primer pairs enable simultaneous amplification of up to three loci.

Animals↗
PubMed1995

Renal cyst rupture following blunt abdominal trauma: case report.

We report a case of simple renal cyst rupture resulting from blunt trauma. The injury was detected on computed tomographic scanning. The patient was treated conservatively and CT scan one month later demonstrated resolution of the cystic rupture.

Abdominal Injuries↗
PubMed1994

Misleading imaging results in the diagnosis of parathyroid cysts.

Enlarged cystic parathyroid glands, whether hyperfunctioning or nonfunctioning, are rare and their accurate preoperative diagnosis is a difficult task. The authors report two cases of patients with cystic neck masses studied by Tl-201-Tc-99m pertechnetate subtraction scintigraphy, computerized tomography, and ultrasonography. The diagnostic consensus of preoperative studies was that these lesions were thyroid nodules or parathyroid adenomas. Surgical removal and histopathologic examination of these masses revealed a cystic parathyroid gland and a cystic parathyroid adenoma, respectively. When a fluid-filled lesion in the neck deep to the lower pole of the thyroid gland is encountered, the possibility of a parathyroid cyst should be considered so that further diagnostic tests can be properly performed.

Adenoma↗
PubMed1993

Detection of highly polymorphic microsatellite loci in a species with little allozyme polymorphism.

Microsatellite loci are regions of DNA containing tandem repeats of a short sequence motif; they occur abundantly in all eukaryotic genomes and have been shown to be a rich source of highly polymorphic genetic markers in humans and other mammals. These loci are particularly suitable for population studies because they can be relatively easily scored using a combination of polymerase chain reaction (PCR) amplification of each locus followed by electrophoresis to separate alleles. This paper details a method for finding these loci in any species. This method demonstrates that trinucleotide microsatellite loci are abundant and highly polymorphic in the social wasp Polistes annularis, whereas allozyme electrophoresis reveals very little polymorphism. The first six loci examined were all polymorphic with a mean observed heterozygosity of 0.62; in comparison average heterozygosity of 33 allozymes was 0.035. We suggest that this method can be used to detect variation where other methods have failed, making it an ideal tool for population and conservation geneticists who must deal with populations lacking other types of genetic variability.

Alleles↗