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Biomedical subjects

J M Killian

Publications and source records attributed to J M Killian.

29 records · Page 2Linked to original sources
PubMed1985

Familial tic disorder, parkinsonism, motor neuron disease, and acanthocytosis: a new syndrome.

We report two brothers who were of consanguineous parents and who displayed a unique association of motor and vocal tics, parkinsonism, distal muscular atrophy, and acanthocytosis. In the older brother, leg weakness and muscle wasting started at age 13, and he became wheelchair bound at 40. Electrophysiologic studies and muscle biopsy confirmed diffuse denervation. Involuntary vocalizations and facial tics began at age 36, but within 5 years the tics were replaced by progressive parkinsonism with supranuclear ophthalmoparesis. CSF studies implied impaired central dopamine and serotonin turnover. In the younger brother, orofacial tics started at age 36, vocalizations and fasciculations in the legs began 1 year later, and parkinsonian findings were present at age 40. This is the first report of an association of Tourettism, parkinsonism, motor neuron disease, and acanthocytosis occurring as an autosomal recessive syndrome.

Acanthocytes↗
PubMed1979

Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy.

A kindred of 68 French Acadians who were heterozygous for a dominant gene of Charcot-Marie-Tooth disease associated with peripheral nerve hypertrophy are described. Marriage between 2 heterozygotes resulted in 2 homozygous offspring. Clinical features of the homozygotes were similar to the classic description of Dejerine-Sottas disease. Laboratory studies in this family revealed no chemical, metabolic, or chromosomal abnormalities in either the homozygotes or the heterozygotes.

Adult↗
PubMed1977

Glossopharyngeal neuralgia, asystole, and seizures.

Glossopharyngeal neuralgia, asystole, and seizures occurred in a patient with an internal carotid occlusion and external carotid stenosis. Swallowing was the triggering mechanism for these events. Mechanical stimulation of the pharynx failed to reproduce the symptoms. An ischemic injury to the glossopharyngeal nerve in the region of the jugular foramen that resulted in an artificial synapse is the proposed etiology.

Aged↗
PubMedDate not supplied

Diagnosis of acute cerebral infarction: comparison of CT and MR imaging.

The appearance of acute cerebral infarction was evaluated on MR images and CT scans obtained in 31 patients within 24 hr of the ictus; follow-up examinations were performed 7-10 days later in 20 of these patients and were correlated with the initial studies. Acute infarcts were visible more frequently on MR images than on CT scans (82% vs 58%). Proton density- and T2-weighted scans usually demonstrated regions of hyperintensity corresponding to acute infarcts, but proton density-weighted scans often showed better definition of the lesion in terms of regional anatomy. Follow-up MR images and CT scans identified approximately 88% of subacute strokes, 54% of which were better defined and/or larger than on the initial examination. In 20% of lesions, "hemorrhagic" characteristics were seen on at least one examination. CT and MR imaging were comparable in delineating acute hemorrhage, but MR detected more cases with evidence of hemorrhage on follow-up examinations. MR appears to be more sensitive than CT in the imaging of acute stroke.

Acute Disease↗
PubMedDate not supplied

Cerebral infarction: diagnosis and assessment of prognosis by using 123IMP-SPECT and CT.

A multicenter prospective study was performed in 49 patients with 77 regions of cerebral infarction. Each patient was evaluated in the acute (0-5 days) and subacute (6-17 days) phases by (1) clinical neurologic examination, (2) CT scans, and (3) N-isopropyl-p-123I-iodoamphetamine (123IMP) single-photon emission CT (SPECT) scans. The abilities of the scans to (1) detect a lesion and (2) predict the clinical outcome were assessed. For lesion detection, 123IMP-SPECT was superior to CT in the first 2 days, but the scans were equally effective 3-5 days after onset. In the subacute phase, IV contrast-enhanced CT was superior to 123IMP-SPECT and unenhanced CT. The clinical outcome was only mildly correlated with the results of the acute and subacute 123IMP-SPECT and the acute CT scans. Reduction in lesion size on the subacute scans did not correlate with clinical improvement. We conclude that the parameters measured by CT and 123IMP-SPECT in patients with acute cerebral infarction cannot reliably be used to predict clinical outcome. 124I contamination of 123IMP and the use of low-energy collimators may have decreased lesion detectability.

Adult↗