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Biomedical subjects

N Flanagan

Publications and source records attributed to N Flanagan.

8 recordsLinked to original sources
PubMed1997

A family with hereditary spastic paraparesis and epilepsy.

PURPOSE: We describe a family with hereditary spastic paraparesis (HSP) in which 4 of 6 affected members also have epilepsy. METHODS: All family members were examined by 2 neurologists. Four affected and 3 unaffected family members had EEG recordings. Four affected members were investigated for other causes of spastic paraparesis and epilepsy. RESULTS: Epileptic symptoms varied among family members: 1 had complex partial seizures, another had focal myoclonic epilepsy, and 2 had simple partial seizures secondarily generalized. All 4 had clinical or EEG evidence to support a focal origin for the epilepsy, and 2 had photoparoxysal responses on EEG. Symptoms were more severe and occurred earlier in the younger generation, suggesting genetic anticipation in this family. The onset of epilepsy developed simultaneously with, or < or = 18 years before, onset of gait disturbance. Three unaffected family members had normal EEGs. CONCLUSIONS: The association of HSP and epilepsy should no longer be assumed to be fortuitous.

Adolescent↗
PubMed1997

Developmental enamel defects in tuberous sclerosis: a clinical genetic marker?

Ten probands with tuberous sclerosis (TS) and 20 first degree relatives were examined for evidence of pitted enamel hypoplasia; 100% of TS patients had pitting, compared to 65% of relatives and 72% of 25 controls. We found that 70% of TS cases had more than 14 pits per person compared with only 5% of relatives and 4% of controls; 85% of relatives and 84% of controls had fewer than six pits per person. Our results confirm that significantly increased numbers of dental enamel pits are found in persons with TS compared to controls. These results suggest that examination for the presence or absence of dental enamel pits is not a useful screening test for first degree relatives to detect otherwise unsuspected subjects with tuberous sclerosis. However, the lack of pits in first degree relatives in our study is probably largely because none of the relatives appeared to carry the TS gene.

Dental Enamel↗
PubMed1986

Clinical studies of chemonucleolysis patients with ten- to twenty-year follow-up evaluation.

A follow-up evaluation of 357 patients injected with chymopapain ten to 20 years earlier included 97 females of mean age 42.2 years and 260 males of mean age 41.6 years. Pain distribution and physical findings were positive for discogenic involvement of long duration prior to chemonucleolysis. Eighteen patients were treated under worker's compensation. Postoperation, significant back pain persisted less than 24 hours in seven patients, less than six days in 133, less than 21 days in 178, from one to three months in nine, and between three and six months in two patients. Leg pain remained less than 24 hours in 32 patients, between one and five days in 212, between six and 21 days in 96, between one and three months in seven, and between six and 12 months in three patients. Similar improvement in extensor hallucis longus weakness and straight leg raising was also noted. Pain relief in the long term showed none persisting in the 158 patients or 44%, mild remaining pain in 107 or 30%, moderate pain in 71 or 20% and some pain in 21 or 6%. Thus the result was graded satisfactory in 74%. Complications included thrombophlebitis in two, pulmonary emboli in two, severe abdominal stress two days postoperation in one, severe anaphylatic reaction in one, and transient chest pain of undetermined etiology in one patient. All made good recovery from these complications.

Activities of Daily Living↗
PubMed1983

Morphologic and morphometric studies of muscle in idiopathic scoliosis.

The gluteus maximus and paraspinal muscles in 15 cases of idiopathic scoliosis at the apex of the curve showed myopathic changes and a significant decrease in the type II fibers. Fiber type II atrophy was observed only on the concave side. Ultrastructure of paraspinal and gluteus muscle biopsies showed disruption of myofilaments, Z band streaming and subsarcolemmal accumulation of glycogen, lipid and mitochondria. Quantitative estimation of these subcellular organelles pointed out that a higher glycogen content was significant in both paraspinal as well as the gluteus muscles while a higher mitochondrial content was significant only on the convex side and the gluteus muscle but not the concave side of the apex when compared to normal quadriceps muscle. These findings suggest that idiopathic scoliosis is a diffuse disease process and may be considered a primary muscle disease.

Adolescent↗
PubMed1980

Neuropathy in thoracic scoliosis.

The erector spinae muscles of 20 normal humans were evaluated at C7, T3, T11, and L5 vertebral body levels bilaterally. At each level, the mean potential duration of the motor unit action potential was calculated. This control group was compared with a group of patients with C7 and L5 radiculopathy and with a group of patients with thoracic scoliosis. The mean potential durations of the radiculopathy group at the C7 and L5 levels were prolonged as were those values at the convex thoracic levels in the scoliotic group. Muscle biopsy of the erector spinae in the scoliotic group revealed grouped atrophy and changes consistent with a neuropathic process. A radiculopathic process was associated with idiopathic thoracic scoliosis and involved the convex side. It was maximal near the apex of the curve.

Action Potentials↗