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O N Markand

Publications and source records attributed to O N Markand.

At least 19 recordsLinked to original sources

Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.

Hyperekplexia, or startle disease (STHE), is an autosomal dominant neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to sudden, unexpected acoustic or tactile stimuli. STHE responds dramatically to the benzodiazepine drug clonazepam, which acts at gamma-aminobutyric acid type A (GABA-A) receptors. The STHE locus (STHE) was recently assigned to chromosome 5q, on the basis of tight linkage to the colony-stimulating factor 1-receptor (CSF1-R) locus in a single large family. We performed linkage analysis in the original and three additional STHE pedigrees with eight chromosome 5q microsatellite markers and placed several of the most closely linked markers on an existing radiation hybrid (RH) map of the region. The results provide strong evidence for genetic locus homogeneity and assign STHE to a 5.9-cM interval defined by CSF1-R and D5S379, which are separated by an RH map distance of 74 centirays (roughly 2.2-3.7 Mb). Two polymorphic markers (D5S119 and D5S209) lie within this region, but they could not be ordered with respect to STHE. RH mapping eliminated the candidate genes GABRA1 and GABRG2, which encode GABA-A receptor components, by showing that they are telomeric to the target region.

Base Sequence

Single photon imaging computed tomography (SPECT) for localization of epileptogenic focus in patients with intractable complex partial seizures.

Interictal and ictal HIPDM-SPECT brain scans were obtained in 38 patients who eventually underwent temporal lobectomy for treatment of medically intractable complex partial seizures (CPS). Interictal studies revealed decreased regional cerebral perfusion (rCP) in the temporal lobe corresponding to the eventual site of surgery in 76% of the patients. Similarly, ictal studies demonstrated increased rCP in 91% of the patients. Of the 33 patients who had both interictal and ictal SPECT studies, 23 (70%) showed increased rCP in the ictal state and decreased rCP in the interictal state in the same temporal lobe which was subsequently removed. The SPECT scans were particularly helpful in providing confirmatory evidence for localization and in deciding to undertake temporal lobectomy in 16 patients whose EEG studies had provided less secure localization. Our experience suggests that interictal and ictal SPECT brain imaging can be easily obtained and provides reliable localizing information in the epileptic patients being considered for temporal lobectomy.

Adolescent

Alpha rhythms.

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Aging

Presenting the diagnosis of pseudoseizure.

Simultaneous video-EEG monitoring has allowed pseudoseizures to be effectively diagnosed. Discussing the results of the monitoring with the patient is the 1st step in treatment. We outline a protocol for presenting the diagnosis of pseudoseizure with the goal of conveying to the patient the importance of knowing the nonepileptic nature of the spells and the need for psychiatric follow-up. The protocol also allows elicitation of sexual abuse history and the use of suggestion to aid in controlling the pseudoseizures.

Clinical Protocols

HIPDM-SPECT brain imaging in the presurgical evaluation of patients with intractable seizures.

We report the results of interictal and ictal HIPDM-SPECT brain imaging in 34 patients who eventually underwent temporal lobectomy for treatment of medically intractable complex partial seizures. Interictal studies revealed decreased regional cerebral perfusion (rCP) in the temporal lobe corresponding to the eventual site of surgery in 73% of the patients. Similarly, ictal study demonstrated increased rCP in 93% of the patients. In 69% of the patients, the SPECT studies were able to demonstrate both increased rCP on the ictal scan and decreased rCP on the interictal scan in the same location, corresponding to the eventual site of surgery. These results suggest that interictal and ictal SPECT brain imaging can be easily obtained and provide reliable localizing information in the presurgical evaluation of patients with medically intractable epilepsy.

Adolescent

Brain-stem auditory evoked potential abnormalities with unilateral brain-stem lesions demonstrated by magnetic resonance imaging.

We correlated the brain-stem auditory evoked potential (BAEP) abnormalities in 24 patients with discrete unilateral brain-stem lesions demonstrated by magnetic resonance imaging. In 18 patients who had BAEP abnormalities either confined to or more severe on stimulation of one ear, the lesion on magnetic resonance imaging was in the brain stem ipsilateral to the corresponding ear. Mesencephalic lesions produced amplitude abnormalities of the IV/V complex while pontine lesions resulted in abnormalities of earlier components (wave II and/or III). Prolongation of the I-III interpeak latency tended to occur with pontine lesions and of the III-V interpeak latency with mesencephalic lesions. Unilateral brain-stem lesions, particularly at the mesencephalic level, often produced BAEP abnormalities on both ipsilateral and contralateral monaural stimulation.

Adult

HIPDM-SPECT in patients with medically intractable complex partial seizures. Ictal study.

Both interictal and ictal N,N,N'-trimethyl-N'-(2-hydroxy-3-methyl-5-iodobenzyl)-1,3,propanediamine -single photon emission computed tomography (HIPDM-SPECT) were performed in 16 patients with medically intractable complex partial seizures. Ictal HIPDM-SPECT localized epileptic foci in 13 of 14 patients with unilateral temporal focus and provided confirmative evidence of epileptic focus in 11 patients by demonstrating maximally increased regional cerebral perfusion (rCP) in epileptic foci that had shown decreased rCP in a previous interictal study. Ictal HIPDM-SPECT in two patients with bitemporal foci showed more complicated patterns consisting of slightly increased rCP in bilateral multifocal regions. Ictal HIPDM-SPECT was particularly useful for investigating epileptic foci, and correlation with simultaneously recorded ictal electroencephalograms provided further insight for localizing epileptic foci.

Brain

Effects of hypothermia on brainstem auditory evoked potentials in humans.

Ten adult patients who underwent open heart surgery under induced hypothermia had brainstem auditory evoked potentials (BAEPs) recorded at 1 degree- to 2 degrees C-steps as body temperature was lowered from 36 degrees C to 20 degrees C to determine temperature-dependent changes. Hypothermia produced increased latencies of BAEP waves I, III, and V; the prolongation was more severe for the later components with the result that interpeak latencies I-III, III-V, and I-V were also prolonged. The temperature-latency relationship was nonlinear and best expressed by exponential curve. The latencies of waves I, III, V and the interpeak latency I-V increased roughly 7% for each 1 degree C drop; they doubled at a temperature around 26 degrees C. The amplitude of the BAEP components had a quasiparabolic relationship to temperature; the amplitude rose with hypothermia to 28 degrees or 27 degrees C, but decreased linearly with further cooling. All BAEP components were present at temperatures above 23 degrees C and absent below 20 degrees C. With rewarming, the changes reversed and BAEPs returned to initial prehypothermia status.

Acoustic Stimulation

Single photon emission computed tomography (SPECT) brain imaging using N,N,N'-trimethyl-N'-(2 hydroxy-3-methyl-5-123I-iodobenzyl)-1,3-propanediamine 2 HCl (HIPDM): intractable complex partial seizures.

HIPDM-SPECT brain imaging was performed in four patients with intractable complex partial seizures (CPS). Three patients had an epileptogenic focus in one temporal lobe and underwent anterior temporal lobectomy. Interictal HIPDM-SPECT demonstrated decreased regional cerebral perfusion (rCP) in the epileptogenic area in only one patient, but ictal studies showed increased rCP in the epileptic foci of all three patients. In the fourth patient, interictal HIPDM-SPECT showed increased rCP in the area of epileptogenic focus; when antiepileptic medication was taken, rCP decreased. HIPDM-SPECT brain imaging is useful for localizing epileptogenic foci in CPS.

Adolescent

Multiple sclerosis: magnetic resonance imaging, evoked responses, and spinal fluid electrophoresis.

Magnetic resonance images (MRI), evoked responses (ER), and CSF findings were compared in 39 patients with possible, probable, or definite MS. MRI disclosed multiple lesions (72%) more often than ERs (55%) in the total group of patients. In possible MS, MRI showed multiple lesions in 71%, and ER abnormalities were found in 41%. MRI is the preferred test for patients with suspected MS, but ERs are useful when MRI is normal and in the evaluation of optic nerve or spinal cord lesions.

Adult

Postoperative phrenic nerve palsy in patients with open-heart surgery.

We prospectively studied patients undergoing open-heart surgical procedures to evaluate the role of phrenic nerve palsy in the causation of the high incidence of pulmonary complications reported in these patients. Although atelectasis, or infiltrates, or both developed in the left lower lobe of 98% of the patients (43 of 44) with or without similar changes on the right side, only 5 (11%) of the 44 patients had diaphragmatic dysfunction following operation. In 1, the left phrenic nerve became inexcitable; 2 had paresis of the left hemidiaphragm, and 2 had paresis of the right hemidiaphragm. Although damage to the phrenic nerve can occur during open-heart operations, a relatively low incidence of this complication does not support it as the major cause of postoperative pulmonary complications.

Adult

Electrophysiologic evaluation of phrenic nerves in severe respiratory insufficiency requiring mechanical ventilation.

Diaphragmatic paralysis in patients with respiratory insufficiency compounds the problems in the management. In the presence of lower lobe atelectasis, pleural effusion, or a patient's poor respiratory effort, fluoroscopic examination is often not a reliable way to diagnose diaphragmatic paralysis. We observed that transcutaneous phrenic nerve stimulation in the neck and recording the diaphragmatic potentials from electrodes placed on the lower part of the chest is a simple, reliable, and noninvasive technique to diagnose diaphragmatic dysfunction at the bedside in critically ill patients. In 14 postoperative patients and one with cervical spinal cord injury with respiratory failure, we found ten patients who showed phrenic nerve dysfunction. Besides diagnostic utility, the electrophysiologic evaluation of phrenic-diaphragmatic function provides critical information needed for therapy.

Adult

Brainstem auditory evoked responses in leukodystrophies.

Brainstem auditory evoked responses (BAERs) were recorded in seven patients with Pelizaeus-Merzbacher leukodystrophy (PMD), two with adrenoleukodystrophy (ALD), and one with metachromatic leukodystrophy (MLD). BAERs were altered in all patients, and the alterations were severe in 9 of the 10 patients. A patient with ALD who as yet had no neurologic symptoms showed only minimal abnormality of the BAERs, consisting of prolongation of the latency of wave V. In the remaining nine patients, only wave I generated in the extramedullary portion of the eighth nerve was recorded with or without a wave II. Subsequent components (III through VII) were absent. No abnormality of BAERs was observed in the 10 known carriers of PMD. The combination of BAERs and EEG is helpful in differentiating leukodystrophy from progressive gray matter diseases.

Adult

Complex partial status epilepticus (psychomotor status).

A 20-year-old mentally retarded woman, who had a history of intractable epileptic seizures since early childhood, had prolonged episodes of confusion, decreased responsiveness and automatic behavior lasting as long as 2 days. These are believed to represent epileptic status of the complex partial (psychomotor) type because the electroencephalogram (EEG) recorded during two such periods showed continuous high amplitude, semirhythmic, 4 to 6 cycles per second (cps), spike activity over both frontotemporal regions; several interictal tracings revealed a consistent spike focus in the right anterior temporal area. Diazepam given intravenously during one such episode terminated both the abnormal behavior and the ictal discharges in the EEG.

Adult

Epileptic seizures and abnormal electroencephalographic findings in hydrocephalus and their relation to the shunting procedures.

A total of 92 patients with hydrocephalus were studied. The incidence of seizures was significantly greater in the "shunted" group (18.2% in the "non-shunted" and 65.4% in the "shunted" group). All of the shunted patients who had seizures developed them after the placement of the shunt. Left sided focal motor seizures were the commonest focal seizures in the patients with right sided shunts. There was a higher incidence of abnormal EEG tracings in the "shunt" group (47% of the "non-shunt" patients and 95% of the "shunt" group). All types of focal EEG abnormalities, but particularly the slow wave foci, were seen more frequently over the hemisphere which had the shunt, and in more than half these localized to the neighborhood of the shunt itself. It is suggested that the shunt, which may act as a foreign body, may be responsible, at least in part, for these findings.

Adolescent