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Biomedical subjects

J Gilroy

Publications and source records attributed to J Gilroy.

At least 19 recordsLinked to original sources

The purification and amino acid sequences of four Tx2 neurotoxins from the venom of the Brazilian 'armed' spider Phoneutria nigriventer (Keys).

Four neurotoxic polypeptides (Tx2-1, Txt2-5, Tx2-6 and Tx2-9) were purified from the venom of the South American 'armed' spider Phoneutria nigriventer (Keys) by gel filtration and reverse phase FPLC and HPLC. These cysteine-rich polypeptides exhibited different levels of neurotoxicity in mice after intracerebroventricular injection. Tx2-1, Tx2-5 and Tx2-6 caused spastic paralysis and death, but the less toxic Tx2-9 produced only tail erection and scratching. The molecular weights of the polypeptides as determined by desorption mass spectroscoopy were 5838.8 for Tx2-1, 5116.6 (Tx2-5), 5291.3 (Tx2-6) and 3742.1 (Tx2-9). The complete amino acid sequences of the neurotoxins were determined by automated Edman degradation and by manual DABITC-PITC microsequence analysis of peptides obtained after digestions with various proteases. The amino acid sequences of Tx2-1 (53 residues), Tx2-5 (49 residues) and Tx2-6 (48 residues) were homologous, but had only limited similarities to the less toxic Tx2-9 (32 residues). All four polypeptides had varying sequence identities with other neurotoxins from different spider species and biologically active peptides from scorpions, a sea snail and seeds of Mirabilis jalapa.

Amino Acid Sequence

The N-terminal amino acid sequence of the beta-subunit of the legumin-like protein from seeds of Ginkgo biloba.

The sequence of the first 52 amino acids at the N-terminus of the beta-subunit of a legumin-like protein from seeds of the gymnosperm Ginkgo biloba were determined by automated sequencing and DABITC/PITC microsequence analyses of peptides derived from the protein by enzymatic digestions and chemical cleavage with CNBr. The protein from Ginkgo exhibits sequence homologies (32-49% identities) with the 11S globulins and legume-like proteins from seeds of various angiosperm monocotyledons and dicotyledons.

Amino Acid Sequence

Hereditary coproporphyria: an imitator of multiple sclerosis.

Hereditary coproporphyria can cause both peripheral neuropathy and central nervous system abnormalities. There are several similarities between multiple sclerosis and hereditary coproporphyria that are probably due to the central nervous system dysfunction present in both. This report describes a 62-year-old man with a five-year history of progressive paraparesis initially diagnosed as multiple sclerosis. Supporting evidence for the diagnosis of a demyelinating disease included three oligoclonal bands in the patient's cerebral spinal fluid, a prolonged visual evoked response bilaterally, abnormal sensory evoked potentials, and an area of increased signal in the posterior cervical cord suggestive of demyelination that was demonstrated on magnetic resonance imaging (MRI). Features atypical for multiple sclerosis were hypoactive deep-tendon reflexes, electromyographic evidence of peripheral neuropathy, and severe constipation. Elevated urine porphyrins and decreased levels of coproporphyrinogen oxidase confirmed the correct diagnosis of hereditary coproporphyria. The patient improved after being placed on a high-carbohydrate diet. Although central demyelination is known to occur in patients with porphyria, delayed evoked potentials and MRI abnormalities have not been previously reported.

Diagnosis, Differential

Two genes encoding 'minor' legumin polypeptides in pea (Pisum sativum L.). Characterization and complete sequence of the LegJ gene.

A genomic clone from pea (Pisum sativum L.) contains all of one gene encoding a 'minor' (B-type) legumin polypeptide, and most of a second very similar gene. The two genes, designated LegJ and LegK, are arranged in tandem, separated by approx. 6 kb. A complete sequence of gene LegJ and its flanking sequences is given, with as much of the sequence of gene LegK as is present on the genomic clone. Hybridization of 3' flanking sequence probes to seed mRNA, and sequence comparisons with cDNA species, suggested that gene LegJ, and probably gene LegK, was expressed. The partial amino acid sequences of 'minor' legumin alpha- and beta-polypeptides were used to confirm the identity of these genes. The transciption start in gene LegJ was mapped. The 5' flanking sequence of gene LegJ contains a sequence conserved in legumin genes from pea and other species, which is likely to have functional significance in control of gene expression. Sequence comparisons with legumin genes and cDNA species from Vicia faba and soya bean show that separation of legumin genes into A- and B-type subfamilies occurred before separation of the Viciae and Glycinae tribes.

Base Sequence

"Sticky platelet syndrome": a congenital platelet abnormality predisposing to thrombosis?

We have identified a number of patients with coronary artery disease, TIAs and/or strokes and idiopathic ischemic optic neuropathy who have a platelet population which is in vitro hyperaggregable with epinephrine and ADP and hyperresponsive to surface contact. These patients have no identifiable risk factors. Several families have been identified in which multiple members had these findings. Many, but not all have had clinical symptoms. An autosomal (dominant) pattern of heredity seems to evolve. We refer to this as "sticky platelet syndrome" and hypothesize that it may represent a congenital platelet abnormality which potentially predisposes to thromboembolisms. The precise nature of the defect is not known at this time.

Adolescent

Comparison of methods for analysis of CSF proteins in patients with Alzheimer's disease.

Cerebrospinal fluid (CSF) from patients with Alzheimer's disease (AD) and controls was analyzed by one- and two-dimensional gel electrophoresis, electron microscopy, and fluorescence microscopy with thioflavin S staining. In CSF from patients with AD, abnormal proteins were found following two-dimensional gel electrophoresis and silver staining. In CSF samples from most of the AD patients studied, a highly argentophilic material was detected upon silver staining the stacking gel of the one-dimensional gels. Electron microscopy of material eluted from the stacking gel showed fibers of approximately 7-10 nm diameter, with some twisting; properties consistent with paired helical filaments or amyloid. Furthermore, material with the characteristics of amyloid (fiber diameter ranging from 4-10 nm) was found in the CSF sediment. The CSF from AD patients had significantly elevated numbers of yellow fluorescent particles following thioflavin S staining when compared with age-matched, other neurological disease controls. We did not see an increase in autofluorescence, indicating that thioflavin S staining is specific. Our data suggest that AD CSF contains plaque amyloid and possibly proteins from neurofibrillary tangles. The thioflavin S staining method appears to have potential for development as a diagnostic tool.

Aged

Syringomyelia affecting the entire spinal cord secondary to primary spinal intramedullary central nervous system lymphoma.

A case of syringomyelia involving the entire spinal cord secondary to a spinal intramedullary tumour is described. Cerebrospinal fluid cytology and microscopic evaluation of gross necropsy specimens revealed a primary large cell lymphoma of the central nervous system. In addition there was massive leptomenigeal lymphomatosis involving the cortex, brainstem, and cerebellum. No solitary intracranial mass lesion was found.

Adult

Testosterone levels in adult male epileptic patients.

Total and free testosterone levels were assayed in 80 epileptic outpatients. The levels were in the low-normal range, and there was no dissociation between free and total levels observable in this sample. No relationships to clinical epilepsy parameters or anticonvulsant levels were found, but significant inverse relationships existed with age and the number of different anticonvulsant medications a patient was taking. The age effect was independent of the medication contribution and raises the question of premature aging of the sexual system in patients with epilepsy. Whether or not this is part of a more general premature decrease in the functions of the pituitary hypothalamic axis needs to be investigated.

Adult

Purification, properties and amino acid sequence of a low-Mr abundant seed protein from pea (Pisum sativum L.).

The seeds of pea (Pisum sativum L.) contain several proteins in the albumin solubility fraction that are significant components of total cotyledonary protein (5-10%) and are accumulated in developing seeds concurrently with storage-protein synthesis. One of these proteins, of low Mr and designated 'Psa LA', has been purified, characterized and sequenced. Psa LA has an Mr of 11000 and contains polypeptides of Mr 6000, suggesting that the protein molecules are dimeric. The amino acid sequence contains 54 residues, with a high content (10/54) of asparagine/aspartate. It has no inhibitory action towards trypsin or chymotrypsin, and is distinct from the inhibitors of those enzymes found in pea seeds, nor does it inhibit hog pancreatic alpha-amylase. The protein contains no methionine, but significant amounts of cysteine (four residues per polypeptide), suggesting a possible role as a sulphur storage protein. However, its sequence is not homologous with low-Mr (2S) storage proteins from castor bean (Ricinus communis) or rape (Brassica napus). Psa LA therefore represents a new type of low-Mr seed protein.

Albumins

Monocular pattern-shift visual evoked potentials in hemispheric strokes.

Monocular pattern-shift visual evoked potentials were obtained in (i) 33 patients with unilateral non-hemorrhagic hemispheric infarction (age 50-79 years; 23 males, 10 females), (ii) 21 age- and sex-matched patient controls (control group or CGI) with no remote or recent stroke, normal neurological examination and similar incidence of diabetes mellitus, hypertension and heart disease, and (iii) 21 age- and sex-matched healthy elderly community volunteers (CGII). Subjects with history of glaucoma, cataracts, other media opacities or symptomatic retinal lesions were not considered or included in any of the 3 study groups. In addition, all subjects in each of the 3 groups had a normal ocular and fundoscopic examination. The mean interocular P100 latency difference in the stroke group was significantly greater than that in CGI or II (P less than 0.01). The mean interocular P100 amplitude ratio (small P100/large P100) in the stroke subjects was significantly different from that of CGI or II (P less than 0.02). The mean P100 latency on ocular stimulation ipsilateral to the side of infarction was significantly longer than that of either left or right ocular stimulation in CGI or II (P less than 0.01). The mean P100 latency on ocular stimulation contralateral to the side of infarction was similarly but less significantly longer than that on left or right ocular stimulation in CGI or II (P less than 0.05). Evidence of anterior visual pathway dysfunction was thus elicited in the stroke population using the technique.

Aged

Investigation of sex hormones in male epileptic patients.

Testosterone (T), follicle-stimulating hormone (FSH), luteinizing hormone (LH), and prolactin (PRL) levels were obtained in 33 male epileptic patients and 11 age-matched normal controls. The patients had significantly higher mean levels of FSH, LH, and PRL; T was decreased but not significantly so. Patients who had reported difficulties with sexual arousal on the Bear-Fedio Inventory had significantly lower T levels than those who did not. Increased LH levels correlated with younger age at onset of epilepsy and longer history of tonic clonic seizures. Increased PRL levels were related to a positive family history of epilepsy and nonfocal tonic clonic seizures. Anticonvulsant levels were unrelated to hormonal changes except for carbamazepine which was positively correlated with PRL levels.

Epilepsy

Arachnoid cyst with rupture into the subdural space.

Arachnoid cysts which develop in relation to the cerebral hemispheres are usually found in the middle cranial fossa. These cysts are usually asymptomatic but can produce symptoms if there is haemorrhage into the cyst or the development of an associated subdural hematoma. Recent publications have emphasised the association of arachnoid cysts of the middle fossa with subdural haematomas. This report describes a case of an asymptomatic arachnoid cyst which ruptured into the subdural space. This event was followed by the development of symptoms despite the lack of haemorrhage.

Arachnoid Cysts

Mitochondrial myopathy and encephalopathy: three cases--a deficiency of NADH-CoQ dehydrogenase?

We describe three patients with mitochondrial myopathy, dementia, loss of vision and hearing, seizure disorder with myoclonus, intermittent headaches of a vascular type, visual hallucinations, cerebellar dysfunction, and lactic acidosis. Muscle biopsies in all patients and liver biopsy in one revealed abnormal mitochondria. The disorder may be due to a deficiency of mitochondrial NADH-CoQ dehydrogenase.

Adolescent

Computerized tomography and auditory-evoked potentials. Use in the diagnosis of olivopontocerebellar degeneration.

The pneumoencephalogram has been the only diagnostic test available to confirm the diagnosis of olivopontocerebellar degeneration during life. This study suggests that pneumoencephalography may be obsolete and that the diagnosis of olivopontocerebellar degeneration may be established by abnormalities seen during computerized tomography (CT) and by abnormal responses to auditory-evoked potentials (AEPs). The combination of CT scans and AEPs provides a completely nontraumatic method of diagnosis in olivopontocerebellar degeneration and eliminates the need for pneumoencephalography.

Adolescent

Auditory evoked brain stem potentials in a case of "locked-in" syndrome.

Auditory evoked brain stem potentials were measured in a patient with occlusion of the basilar artery about 7 mm above its origin, resulting in the "locked-in" syndrome due to infarction at the junction of the lower one third and upper two thirds of the pons. The first three waves of the evoked response originating from the acoustic nerve and auditory nuclei in the caudal pons were normal in wave form, peak latency, and voltage level. Waves IV and V, generated in the region of the lateral lemniscus and inferior colliculus in rostral pons and caudal midbrain, demonstrated prolonged peak latency and reduced voltage, indicative of slowed neural conduction in the pons above the level of the superior olivary complex. These findings suggest that auditory evoked potential recordings may have considerable value in the localization of brain stem disorders.

Acoustic Stimulation

Myophosphorylase deficiency (McArdle's disease): report of a family.

The clinical and biochemical findings are presented of two brothers suffering from McArdle's Disease (Myophosphorylase Deficiency). Tissue enzyme estimations and lactate levels were done in affected and non-affected members of the family. Affected members showed absence of phosphorylase enzyme by histochemical and quantitative estimation. No quantitative abnormalities were found in other enzyme systems of glycolytic pathways in the family investigated. Various other aspects of clinical features, biochemical abnormalities and inheritance are discussed.

Adult