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Biomedical subjects

L MacMillan

Publications and source records attributed to L MacMillan.

7 recordsLinked to original sources

Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency neuropathy: response to cod liver oil.

Docosahexaenoic acid (DHA) deficiency has recently been documented in several children with long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHADD). We studied a 13-year-old boy with LCHADD who had limb girdle myopathy, recurrent myoglobinuria, and progressive sensorimotor axonopathy with demyelination. At 11 years of age, he was started on cod liver oil extract, high in DHA content. Over 12 months, he demonstrated a marked clinical recovery. Nerve conduction studies (NCS) demonstrated reappearance of previously absent posterior tibial and peroneal nerve responses and the amplitudes on motor ulnar and median NCS markedly increased from 7- to 14-fold, respectively.

3-Hydroxyacyl CoA Dehydrogenases

Economic and social impact of migraine.

We sent an anonymous self-administered questionnaire to 4200 employees of a Trust hospital, 1903 of whom returned it. We identified 158 migraine sufferers according to International Headache Society (IHS) criteria. These sufferers estimated 2.0 days/year absence from work, and an equivalent of 5.5 days/year lost by reduced effectiveness at work, caused by their migraine at an estimated financial cost of over 50,000 pounds to the Trust. An additional 220 individuals who had received a diagnosis of migraine from a doctor but fulfilled only 3/4 IHS criteria lost the equivalent of 6.7 days off work at a further cost of 63,000 pounds). Few patients had consulted their general practitioner about their migraines in the last 3 months. Most (78%) were using only over-the-counter medication. Migraine patients should be encouraged to seek medical attention.

Cost of Illness

Early recognition of sacroiliitis by magnetic resonance imaging and single photon emission computed tomography.

OBJECTIVE: To evaluate the role of magnetic resonance imaging (MRI) and single photon emission computed tomography (SPECT) in the detection of sacroiliitis in patients with clinical features of inflammatory back disease but without conventional radiographic changes. METHODS: Twenty-four patients with inflammatory low back pain (ILBP) and normal or suspicious changes of sacroiliitis (New York criteria: 0-1) on conventional radiography, in addition to 12 control subjects were studied. MRI, bone and SPECT scans of the sacroiliac (SI) joints were obtained and interpreted without knowledge of patient identification. MRI scans were scored according to the modified New York criteria and examined for the presence of joint fluid, abnormalities in articular cartilage and in the underlying marrow signal. A quantitative and qualitative assessment of radiopharmaceutical uptake in the SI joints was derived from planar bone scan films and SPECT scans. RESULTS: MRI detected features of scaroiliitis in 54% of patients with ILBP and in 17% of controls (p = 0.07). Quantitative and qualitative analysis of planar bone scan films did not reveal any differences between the 2 patient groups. In contrast, SPECT scanning identified sacroiliitis in 38% of patients with ILBP compared to none in controls (p = 0.05). When MRI and SPECT scanning were combined there was evidence of sacroiliitis in 63% of patients with ILBP and in 17% of controls (p = 0.025). CONCLUSION: MRI and SPECT bone scanning provide objective and complementary evidence of sacroiliitis in patients with clinical features of inflammatory spinal disease in the absence of conventional radiographic changes.

Adult

Single photon emission computed tomography in the diagnosis of inflammatory spondyloarthropathies.

OBJECTIVE: The role of bone scintigraphy in the evaluation of patients with inflammatory spondyloarthropathy is controversial and previous studies have reported a lack of sensitivity and specificity. The aim of our study was to determine whether single photon emission computed tomography (SPECT) scanning would enhance the clinical utility of bone scintigraphy in the detection of inflammatory axial disease, in particular sacroiliitis. METHODS: Twenty patients with definite sacroiliitis (New York criteria > 1) on plain film radiographs and 20 age matched controls were studied. Bone scintigraphy and SPECT scanning were carried out 2 h after an intravenous injection of 99mTc imidodiphosphonate (IDP). A quantitative and qualitative assessment of radiopharmaceutical uptake in the sacroiliac (SI) joints was derived from planar films and a qualitative analysis of uptake in the SI joints was derived from SPECT scans. All films were read without knowledge of patient identification. RESULTS: Quantitative analysis of planar films did not identify any difference between study and control groups (p > 0.05). Qualitative assessment of planar films identified features of sacroiliitis more frequently in patients than in controls (p < 0.05) with a sensitivity of 25% and a specificity of 95%. SPECT scanning also revealed enhanced radiopharmaceutical uptake in the SI joints more frequently in patients than in controls (p < 0.001) with a sensitivity of 85% and a specificity of 90%. Increased uptake in the lumbar facet joints and costovertebral joints was identified in 3 patients. Similar abnormalities were not detected in the control group. CONCLUSION: Our results indicate that SPECT scanning is both sensitive and specific for the detection of established sacroiliitis and may also identify inflammatory disease at other sites in the spine.

Adult

Magnetic resonance imaging in the detection of sacroiliitis.

The value of magnetic resonance imaging (MRI) in establishing the diagnosis of sacroiliitis was studied in 20 patients with established or suspected disease on conventional radiographs and in 10 healthy subjects. Coronal T1 weighted, axial T2 weighted and proton density MRI images of the sacroiliac joints in addition to plain film radiographs were obtained. All films were graded from 0 to 4 according to the modified New York criteria and independently for changes in joint width, erosions, sclerosis and ankylosis. Using the modified New York criteria, more abnormalities were detected by MRI than by conventional radiography (p = 0.04). This was due to the detection of definite abnormalities (grades 2-4) by MRI in joints that were graded normal or suspicious (grades 0-1) on plain films (p = 0.01). MRI tended to be superior to plain films in visualizing erosions. Only MRI detected abnormalities of articular cartilage (19 patients) and in subchondral bone marrow (7 patients). The latter 2 types represented fatty infiltration and inflammatory change. Intraobserver and interobserver variation were similar for the interpretation of MRI scans and plain film radiographs. These results suggest that MRI detects changes of established sacroilitis. Due to its ability to directly image articular cartilage it may be particularly useful in patients with early disease.

Adult

Serial visual evoked potentials and outcome in term birth asphyxia.

Birth asphyxia is a major cause of neonatal mortality and morbidity. It remains difficult to predict accurately neurologic outcome among survivors, particularly infants with moderate hypoxic-ischemic encephalopathy. Visual evoked potential (VEP) is a reproducible measure of cortical function and reflects acute changes in central nervous system status secondary to asphyxial insult. We performed serial VEPs on 36 term infants with documented birth asphyxia to investigate the relationship between VEPs and neurodevelopmental outcome at 18 months of age. Fourteen infants were neurologically intact at subsequent examination; all had normal VEPs during the first week of life. Twenty-two infants had died or were significantly handicapped at 18 months of age; 20 had abnormal VEPs persisting beyond day 7 of life. Abnormal VEPs accurately predicted abnormal outcome (100%) and were both sensitive (91%) and specific (100%). In 20 infants who were classified as moderately asphyxiated according to the criteria of Sarnat and Sarnat, even greater accuracy, sensitivity, and specificity (all 100%) were observed. VEPs demonstrate good correlation with neurodevelopmental outcome in term infants with birth asphyxia and provide accurate prognostic information useful in the clinical management of these infants.

Apgar Score