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Biomedical subjects

R Younger

Publications and source records attributed to R Younger.

12 recordsLinked to original sources
PubMed2003

The Southwest of Scotland Structural Chromosomal Abnormalities Database: an assessment of its contribution to genetic counselling in affected families.

AIM: To assess the effect of establishing a genetic database on the provision of genetic counselling to individuals and families with structural chromosomal abnormalities. METHOD: For the four year period 1997-2000, we compared all cytogenetics laboratory records with entries on the database to determine its completeness. We assessed the extent to which families had been followed up, compared these findings with a previous four year period (1977-1980) and sought to discover why some families were not followed up. RESULTS: Of 215 probands identified during 1997-2000, 19 (9%) were not recorded on the register. Approximately one third of families were followed up completely, one third were partially followed up and one third had had no follow-up, for a variety of reasons. In this last group, there was evidence that some had received inadequate or incorrect genetic advice. There was no evidence that the database improved follow-up in families with structural chromosome abnormalities. Over 20 years, there has been a downward trend in the proportion of cases referred to the genetic clinic. CONCLUSIONS: Our register can be used to monitor trends in clinical practice but has had no direct effect on the service provided to patients and their families.

Chromosome Aberrations↗
PubMed2000

Polymorphisms in olfactory receptor genes: a cautionary note.

The hundreds of human olfactory receptor (OR) genes are organized into clusters occurring on nearly every chromosome. Although their sequences are not always closely related, they share stretches of considerable similarity, both at the amino acid and nucleotide levels. We demonstrate here that an HLA complex-linked OR sequence, FAT11, for which recently a number of alleles have been claimed within the Hutterites, contains sequences derived from two closely related, linked OR genes, hs6M1-12 and hs6M1-16. Instead of indicating a difference between alleles of a given locus, two of the polymorphisms described for FAT11 (at amino acids 48 and 220 of the deduced protein sequence, respectively) may in fact reflect distinct sequences of hs6M1-12 and a further, closely related HLA-linked OR locus, hs6M1-13P. As a consequence, recombination rates in Hutterites in the region telomeric of HLA-G may have to be reconsidered.

Amino Acid Substitution↗
PubMed2000

MHC-linked olfactory receptor loci exhibit polymorphism and contribute to extended HLA/OR-haplotypes.

Clusters of olfactory receptor (OR) genes are found on most human chromosomes. They are one of the largest mammalian multigene families. Here, we report a systematic study of polymorphism of OR genes belonging to the largest fully sequenced OR cluster. The cluster contains 36 OR genes, of which two belong to the vomeronasal 1 (V1-OR) family. The cluster is divided into a major and a minor region at the telomeric end of the HLA complex on chromosome 6. These OR genes could be involved in MHC-related mate preferences. The polymorphism screen was carried out with 13 genes from the HLA-linked OR cluster and three genes from chromosomes 7, 17, and 19 as controls. Ten human cell lines, representing 18 different chromosome 6s, were analyzed. They were from various ethnic origins and exhibited different HLA haplotypes. All OR genes tested, including those not linked to the HLA complex, were polymorphic. These polymorphisms were dispersed along the coding region and resulted in up to seven alleles for a given OR gene. Three polymorphisms resulted either in stop codons (genes hs6M1-4P, hs6M1-17) or in a 16-bp deletion (gene hs6M1-19P), possibly leading to lack of ligand recognition by the respective receptors in the cell line donors. In total, 13 HLA-linked OR haplotypes could be defined. Therefore, allelic variation appears to be a general feature of human OR genes.

Alleles↗
PubMed1985

Functional aspects of T-lymphocyte subsets in pregnancy.

Several recent reports have suggested that a decrease in circulating T helper cells may contribute to the relative immunodeficiency of pregnancy. To investigate the significance of these findings, 90 pregnant women were evaluated. The results of this study indicate that although pregnant women have a decreased proportion of T helper cells, they do have adequate T helper cell function as determined by an in vitro immunoglobulin synthesis assay and a T-lymphocyte colony-forming assay. Based on these studies it is unlikely that decreased numbers of T helper cells are primarily responsible for the immunodeficiency of pregnancy.

Adult↗
PubMed1985

Nasal septal perforations.

The etiology, symptoms, and size of 90 nasal septal perforations subjected to corrective surgery were assessed, indicating significant parameters of closure technique which should improve longterm prognosis. The use of bilateral nasal septal mucosal flaps in conjunction with an autogenous interposition graft provided for optimal results in small and medium sized (less than 20 mm) perforation closure.

Adolescent↗
PubMed1985

Adult pharyngoplasty for velopharyngeal insufficiency.

Nine adults underwent superiorly based pharyngeal flaps for the treatment of severe velopharyngeal insufficiency (VPI). The etiology of the VPI was failed pediatric cleft palate repair in eight and myasthenia gravis in the ninth. All patients were evaluated by a speech therapist pre-operatively. There were no significant early or late postsurgical complications. After extensive speech therapy all patients were noted subjectively and objectively to have a marked reduction in hypernasality and nasal air escape and improved speech intelligibility. The healed fibrotic flaps appeared to be adynamic and acted more as a viable midline obturator. Lateral pharyngeal wall contraction was necessary to close the lateral ports during phonation. The patient with myasthenia gravis had the least improvement presumably due to poor lateral wall mobility.

Adult↗
PubMed1984

Effect of reduced atmospheric pressure on patients with fluctuating hearing loss due to Ménière's disease.

Subjective symptomatic and objective audiologic effects of reduced atmospheric pressure on patients with confirmed fluctuating hearing loss due to Ménière's disease were statistically assessed on a prospective basis. The effect of hypobaric environments on absolute hearing thresholds was investigated in 10 normal subjects at 6,500 ft. Absolute hearing threshold levels obtained at altitude, after one hour altitude exposure, and on descent to normobaric conditions were compared with levels obtained prior to the hypobaric exposure. The results indicated slightly increasing sensitivity of the audiometer headphones with altitude and an insignificant difference in hearing threshold when comparing the differing experimental conditions. The Ménière's disease study group of 16 patients was followed symptomatically and audiologically for one year prehypobaric exposure and for one month post-treatment. The results in this group utilizing the same experimental protocol as with normal subjects indicated a mild deterioration of hearing in the lower frequencies (1,000, 2,000 Hz and calculating the Ménière's pure tone average) despite significant improvements in the vertigo and disability components of their disease.

Adolescent↗