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Biomedical subjects

E P Roy

Publications and source records attributed to E P Roy.

11 recordsLinked to original sources

Longitudinal conduction studies in hereditary motor and sensory neuropathy type 1.

Motor conduction studies were performed serially in 10 patients, ages 10-62 years, with clinical and electrophysiological criteria of hereditary motor and sensory neuropathy type 1 (HMSN-1) over periods of 11-19 years. Median nerve conduction velocity (MNCV) and distal motor latency showed no significant change on serial studies. Mean median compound muscle action potential (CMAP) amplitude values, however, decreased 66% in 8 patients. Observed clinical progression in HMSN-1, over prolonged periods of time, was not associated with MNCV slowing. However, CMAP amplitude reduction, reflecting progressive axonal loss, correlated with clinical deterioration.

Adolescent

Intracranial granulocytic sarcoma in postpolycythemia myeloid metaplasia.

A 57-year-old man with a ten-year history of polycythemia vera had myeloid metaplasia, extramedullary hematopoiesis, and terminally, possible leukemic transformation with intracranial granulocytic sarcoma. Radiation therapy produced a partial and temporary beneficial response. Intracranial granulocytic sarcoma is typically associated with acute or chronic myelogenous leukemia and has not been previously associated with postpolycythemia myeloid metaplasia.

Brain Neoplasms

Familial parkinsonism, apathy, weight loss, and central hypoventilation: successful long-term management.

We report a third family with six members with features of the syndrome of familial parkinsonism, depression, weight loss, and central hypoventilation. Patients with this syndrome typically die suddenly, presumably from central respiratory failure. Following multiple respiratory arrests, one affected member was successfully managed with aggressive pulmonary care, tracheostomy, and intermittent home mechanical ventilation, which, combined with carbidopa/levodopa, allowed for a functional lifestyle with improvement in apathy, mobility, and nutritional status.

Body Weight

Myalgia.

Myalgia, a common symptom resulting from a variety of disease processes, often escapes a specific etiologic diagnosis. Despite the poorly understood pathogenetic mechanisms underlying myalgia, logical classification and clinical evaluation can lead to successful treatment in many cases.

Humans

Intraoperative somatosensory evoked potential monitoring in scoliosis.

During surgical correction of scoliosis, 63 patients had somatosensory evoked potential (SEP) monitoring of the spinal cord. Tibial nerves were unilaterally stimulated, and the potentials were recorded from the midcervical spine with surface and epidural needle electrodes. Over 85% had no significant change in their SEP and no postoperative neurologic deficits. Eleven percent had a significant change in their potential (amplitude decrease of greater than 60% and/or latency increase of greater than 2.5 msec) with no neurologic complications. One patient had a significant potential change and temporary postoperative sensory deficits did occur. One additional patient experienced postoperative neurologic complications but had no SEP change. This single false negative case, however, was clinically significant only for motor dysfunction, which is not monitored by the SEP. When changes in patient core temperature were compared to changes in SEP amplitude and latency, an intraoperative decrease in core temperature increased SEP latency and decreased amplitude, which may explain in part the false positive rate of the procedure.

Body Temperature

Persistent olfactory bulb ventricle.

A large cystic olfactory bulb was discovered incidentally at autopsy. There was no evidence of central nervous system trauma or infection. Hemispheric malformations did not exist except for a dorsal displacement of the overlying gyrus rectus. We interpreted the cyst to be a persistent olfactory bulb ventricle.

Adult