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Biomedical subjects

J M Farmer

Publications and source records attributed to J M Farmer.

12 recordsLinked to original sources
PubMed2006

Measuring Friedreich ataxia: complementary features of examination and performance measures.

OBJECTIVE: To examine the potential validity of performance measures and examination-based scales in Friedreich ataxia (FA) by examining their correlation with disease characteristics. METHODS: The authors assessed the properties of a candidate clinical outcome measure, the Friedreich Ataxia Rating Scale (FARS), and simple performance measures (9-hole peg test, the timed 25-foot walk, PATA test, and low-contrast letter acuity) in 155 patients with FA from six institutions, and correlated the scores with disease duration, functional disability, activity of daily living scores, age, and shorter GAA repeat length to assess whether these measures capture the severity of neurologic dysfunction in FA. RESULTS: Scores for the FARS and performance measures correlated significantly with functional disability, activities of daily living scores, and disease duration, showing that these measures meet essential criteria for construct validity for measuring the progressive nature of FA. In addition, the FARS and transformed performance measures scores were predicted by age and shorter GAA repeat length in linear regression models accounting for sex and testing site. Correlations between performance measures were moderate in magnitude, suggesting that each test captures separate yet related dimensions of neurologic function in FA and that a composite measure might better predict disease status. Composite measures created using cohort means and standard deviations predicted disease status better than or equal to single performance measures or examination-based measures. CONCLUSIONS: The Friedreich Ataxia Rating Scale, performance measures, and performance measure composites provide valid assessments of disease progression in Friedreich ataxia.

Adolescent↗
PubMed2005

Comparison of family histories in FTLD subtypes and related tauopathies.

Pedigrees from 269 patients with frontotemporal lobar degeneration (FTLD), including frontotemporal dementia (FTD), FTD with ALS (FTD/ALS), progressive nonfluent aphasia, semantic dementia (SD), corticobasal degeneration, and progressive supranuclear palsy were analyzed to determine the degree of heritability of these disorders. FTD/ALS was the most and SD the least heritable subtype. FTLD syndromes appear to have different etiologies and recurrence risks.

Adult↗
PubMed2003

Olfactory dysfunction in degenerative ataxias.

Several lines of evidence suggest that the cerebellum may play a role in higher-order olfactory processing. In this study, we administered the University of Pennsylvania Smell Identification Test (UPSIT), a standardised test of olfactory function, to patients with ataxias primarily due to cerebellar pathology (spinocerebellar ataxias and related disorders) and to patients with Friedreich ataxia, an ataxia associated mainly with loss of afferent cerebellar pathways. UPSIT scores were slightly lower in both patient groups than in the control subjects, but no differences were noted between the scores of the Friedreich and the other ataxia patients. Within the Friedreich ataxia group, the smell test scores did not correlate with the number of pathologic GAA repeats (a marker of genetic severity), disease duration, or categorical ambulatory ability. UPSIT scores did not correlate with disease duration, although they correlated marginally with ambulatory status in the patients with cerebellar pathology. This study suggests that olfactory dysfunction may be a subtle clinical component of degenerative ataxias, in concordance with the hypothesis that the cerebellum or its afferents plays some role in central olfactory processing.

Adult↗
PubMed2001

Chondral and osteochondral injuries. Diagnosis and management.

Osteochondral lesions are relatively common and usually occur as a result of trauma. They often are unrecognized acutely and lead to osteochondral defects and eventually osteoarthritis. Detection of these lesions has been aided by bone scan, CT, and MR imaging. Acute osteochondral fragments can be replaced and internally fixed. Chronic osteochondral defects can be treated with several methods designed to stimulate healing by either fibrocartilage or healing by transplantation of bone and cartilage or cartilage alone. The goal of all treatment methods is to provide a stable, congruent joint surface, restore function, and prevent the evolution of osteoarthritis in the injured joint.

Algorithms↗
PubMed2000

Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features.

Two patients with a progressive ataxia are presented with clinical features consistent with classic Friedreich's ataxia (FRDA), but also with features unusual for FRDA. Analysis of DNA showed that each patient is heterozygous for the expanded GAA repeat of FRDA, but carries a base change on his other frataxin allele. For one patient a non-conservative arginine to cysteine amino acid change is predicted at amino acid 165 whereas the other mutation is found at the junction of exon one and intron one. Muscle biopsy showed an absence of frataxin immunoreactivity in the patient harbouring the intronic mutation, confirming the pathological nature of the base change. These mutations extend the range of point mutations seen in FRDA, and agree with recent reports suggesting phenotypic variation in patients with FRDA harbouring point mutations in conjunction with an expanded GAA repeat.

Child↗
PubMed2000

Increased serum transferrin receptor concentrations in Friedreich ataxia.

Mitochondrial iron accumulation is thought to underlie the pathophysiology of Friedreich ataxia and may occur at the expense of cytosolic iron. Decreases in cytosolic iron induce expression of the transferrin receptor, some of which is released into the serum. Here, we demonstrate that serum transferrin receptor concentrations are increased in patients with Friedreich ataxia, which supports the hypothesis that it is a disease of abnormal intracellular iron distribution.

Adolescent↗
PubMed2000

The decision to salvage or amputate a severely injured limb.

The decision to salvage or amputate a severely injured limb is one of the most difficult an orthopaedic surgeon may face. The inclination to undertake heroic measures to save the limb should be tempered by the realization that doing so may lead to repeated hospitalizations, extensive complications, and a poor functional outcome. Several factors must be considered, including objective elements related to the patient's injury and physical condition and subjective considerations related to the patient's psychologic, social, and economic status. We present a framework, in the context of a case study, which may be used in deciding which patients can benefit from early amputation and review five predictive indices for limb salvage.

Accidents, Traffic↗
PubMedDate not supplied

Quality of life assessment by patients with inflammatory bowel disease.

Using a direct-interview technique, 164 ambulatory patients with inflammatory bowel disease were evaluated for quality of life. The sample comprised 94 patients with ulcerative colitis and 70 with Crohn's disease, and included both surgical and nonsurgical patients. The interview questionnaire consisted of 47 items in four categories: functional/economic, social/recreational, affect/life in general, and medical/symptoms. Patients with ulcerative colitis had better quality of life than those with Crohn's disease, and patients without surgery had better quality of life than those with surgery. These results are of value in assessing the results of medical and surgical therapy. Quality of life assessment by patients with inflammatory bowel disease gives information not usually obtained by physicians and has implications for quality assurance and outcome measurement.

Adult↗