Biomedical subjects

A M Gregory

Publications and source records attributed to A M Gregory.

5 recordsLinked to original sources

PubMed2005

Genetic and phenotypic heterogeneity in pattern dystrophy.

BACKGROUND: The pattern dystrophies (PD) represent a clinically heterogeneous family of inherited macular diseases frequently caused by mutations in the peripherin/RDS gene. Most previous studies have detailed the clinical findings in single families, making it difficult to derive data from which progression and visual outcome can be generalised. METHODS: Families were ascertained and clinically evaluated including angiography and electrophysiology where appropriate. RESULTS: In each of the six families with autosomal dominant PD, a mutation in the peripherin/RDS gene was identified, including a novel Cys250Phe variant. These data suggest that the condition is characterised by the accumulation of yellow to grey subretinal flecks, followed by pigmentary change accompanied by patches of chorioretinal atrophy. Subsequently, 50% (16/32) of individuals with PD developed poor central vision because of chorioretinal geographic atrophy or subretinal neovascularisation. The risk of these complications appears to increase with age. CONCLUSION: PD should not necessarily be considered a benign condition. Instead, patients should be counselled that there is a significant chance of losing central vision in their later years. Some elderly patients with probands showing PD may be misdiagnosed with age related macular degeneration owing to the phenotypic similarities between these conditions in the advanced state.

Adult↗

PubMed2004

Gene-environment interaction analysis of serotonin system markers with adolescent depression.

We report analyses from a study of gene-environment interaction in adolescent depression. The sample was selected from 1990 adolescents aged 10-20 years: those with depression symptoms in the top or bottom 15% were identified and divided into high or low environmental risk groups. DNA was obtained from 377 adolescents, representing the four quadrants of high or low depression and high or low environmental risk. Markers within, or close to, each of the serotonergic genes 5HTT, HTR2A, HTR2C, MAOA (monoamine oxidase type A) and tryptophan hydroxylase (TPH) were genotyped. Environmental risk group was a nonsignificant predictor and sex was a significant predictor of the depression group. HTR2A and TPH significantly predicted the depression group, independent of the effects of sex, environmental risk group and their interaction. In addition, there was a trend for an effect of 5HTTLPR, which was significant in female subjects. Furthermore, there was a significant genotype-environmental risk interaction for 5HTTLPR in female subjects only, with the effect being in the same direction as another recent study, reaffirming that an important source of genetic heterogeneity is exposure to environmental risk.

Adolescent↗

PubMed1997

Integral porous femoral stem. 5-to 8-Year follow-up study.

The outcome of total hip arthroplasty without cement was prospectively followed in patients who received a titanium taper wedge femoral component with a circumferential titanium plasma spray coating on the proximal surface (Integral femoral stem, Biomet, Warsaw, IN). One hundred ninety femoral components were implanted in 179 patients. Nine patients (9 hips) died prior to their 5-year examination, leaving 170 patients available for follow-up evaluation. Thirty-one of the 170 patients (33 hips) were lost at an intermediate follow-up period of 5 years. (mean, 5.8 years, range; 5-8 years), giving a follow-up rate of 82% for patients and hips. The preoperative diagnoses included osteoarthritis (91 hips), avascular necrosis (38), post-traumatic arthritis (10), rheumatoid arthritis (4), congenital dislocation of the hip (3), and fractures (2). The 78 men and 61 women had a mean age of 55 years (range, 18-81 years) and a mean weight of 81 kg (range, 50-136 kg). Pre-operative Harris pain and function scores for the hip were 19.9 (range, 0-40) and 55.6 (range, 12-84), respectively. At the most recent follow-up visit, the mean pain score increased to 41.2 (range, 10-44) and the mean function score increased to 93.5 (range, 6-100). Thigh pain was present in 4% of the hips at the most recent follow-up visit. Radiographically, 99% of the femoral components demonstrated spot welds in the porous-coated zone. Two hips had demarcation of the femoral component in the porous-coated zone consistent with fibrous fixation. None of the femoral stems had been revised and there were no signs of aseptic loosening. Additionally, there were no cases of pain that could be directly attributed to the stem and there was no evidence of distal femoral osteolysis. It is concluded that the integral femoral stem provides excellent clinical and radiographic results at intermediate follow-up periods.

Adolescent↗

PubMed1997

Collection of surgical specimens in total joint arthroplasty. Is routine pathology cost effective?

A retrospective review of 715 consecutive cases of total joint arthroplasty (283 hips, 432 knees), performed for a variety of indications during 1992 and 1993, was undertaken to assess the cost effectiveness of routine pathologic examination. The charts were reviewed for preoperative, operative, and pathologic diagnosis, and any discrepancies in diagnosis were noted. Particular attention was paid to pathologic findings suggestive of neoplasia or rheumatoid arthritis that were not noted in the preoperative or operative diagnoses. Six of the 715 cases fit into this category, but all failed to have any clinical significance. No alteration in patient care resulted from routine pathologic examination. This paper questions the necessity of routinely submitting pathologic specimens in uncomplicated total hip and knee arthroplasty.

Aged↗

PubMed1997

SF-36 general health status survey to determine patient satisfaction at short-term follow-up after total hip and knee arthroplasty.

The purpose of this study was to determine whether the SF-36 general health status survey was sensitive enough to document early improvements in patient health after total hip arthroplasty (THA) and total knee arthroplasty (TKA). Early follow-up data were collected an average of 3 months after surgery. Results were striking, showing statistically significant improvements in all pain and function subcategories of the SF-36 for both THA and TKA. Further, the survey instrument successfully differentiated the course of healing after THA and TKA; at this early follow-up period, the patients who had had THA expressed greater improvement in pain, function, and overall health than did patients who had had TKA. These data suggest that the SF-36 is a simple, easy-to-administer, and effective instrument for monitoring improvements in patient health after THA and TKA.

Activities of Daily Living↗