Search PubMed⌕ Search

Biomedical subjects

J M Gilchrist

Publications and source records attributed to J M Gilchrist.

At least 19 recordsLinked to original sources
PubMed1996

Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13.

Oculopharyngeal muscular dystrophy is a late-onset, autosomally dominant disorder characterized by progressive ptosis, dysphagia, and extremity weakness. Linkage of oculopharyngeal muscular dystrophy to 14q11.2-q13 has been reported in a series of French Canadian families. Haplotype analysis in these data shows a single segregating disease chromosome, suggesting a founder effect in this population. We ascertained and sampled for linkage studies 5 multigenerational American families with oculopharyngeal muscular dystrophy. Four of the 5 families have known French Canadian ancestry while the fifth is of English/Scottish origin. A peak multipoint lod score of 6.30 was obtained for the marker MYH7.1 in the families, confirming linkage to 14q11.2-q13. The English/Scottish family exhibited a different chromosomal haplotype for the oculopharyngeal muscular dystrophy alleles than did the families of French Canadian origin. These data suggest that this family may represent a second, possibly independent mutation in this disorder.

Age of Onset↗
PubMed1996

Adult-onset MELAS. Evidence for involvement of neurons as well as cerebral vasculature in strokelike episodes.

BACKGROUND: We report a 46-year-old woman with implications regarding pathogenesis of strokelike episodes in MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes). She had a 10-month history of episodic seizures, strokes, cognitive decline, vomiting, and ileus. She also had sensorineural hearing loss, insulin-dependent diabetes mellitus of several years' duration, and persistent lactic acidosis. Family history was pertinent for a similar syndrome in her deceased mother (onset in her sixties), for hearing loss and diabetes mellitus in two brothers, and for hearing loss in her only child, a son. CASE DESCRIPTION: Serial MRIs of the brain revealed severe but evanescent cerebral cortical abnormalities. A left temporal brain biopsy was performed to exclude encephalitis. Light microscopy revealed a diffuse fibrillary gliosis with abundant reactive gemistocytes, focal evidence of ischemic neuronal injury, and edema. Electron microscopy revealed bizarre enlarged mitochondria and changes consistent with cellular edema. Succinate dehydrogenase staining was strongly reactive within cerebral blood vessels and within neurons. A point mutation was subsequently found at nt 3243 of the mitochondrial tRNA(Leu(UUR) gene in peripheral leukocytes and in brain, confirming the clinical diagnosis of MELAS. Quantitation revealed that 82% of brain mitochondria carried the disease mutation, indicating that most, if not all, tissues were affected. CONCLUSIONS: Our findings suggest that strokelike episodes in MELAS result from defects in neuronal metabolism, as well as in cerebral vasculature.

Age of Onset↗
PubMed1996

Multifocal motor neuropathy with conduction block and Campylobacter jejuni.

We describe a patient with acute multifocal motor neuropathy with conduction block (MMNCB) and high titers of immunoglobulin G anti-GM1 antibodies after Campylobacter jejuni enteritis. Treatment with intravenous immune globulin led to rapid improvement with return of normal function by 6 weeks. This is the first report of C. jejuni enteritis preceding MMNCB.

Autoantibodies↗
PubMed1995

Dynamical analysis of neuromuscular transmission jitter.

Utilizing prolonged axonal stimulation single fiber EMG, neuromuscular transmission becomes a time-series of interpotential intervals (IPIs). In this form, the underlying processes of neuromuscular transmission can be studied using standard numerical techniques to determine whether these processes can be described by a simple mathematical model. In particular, neuromuscular transmission jitter can be examined in this way. In this article, we attempt to determine whether healthy jitter is noise or deterministic chaos. The presence of deterministic chaos was assessed by analysis of the IPI time-series using visual inspection of both phase-space plots and their principal component dimensions, and using the Grassberger-Procaccia algorithm to determine the correlation dimension of the time-series dynamics. These graphical and mathematical techniques provided little evidence for the existence of deterministic chaos. Linear autoregression time-series prediction also failed to account for the variability of the data and IPI histograms exhibited simple gaussian distributions. These results suggest normal neuromuscular transmission jitter is the result of intrinsic noise.

Action Potentials↗
PubMed1995

Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy.

Limb-girdle muscular dystrophy (LGMD) is a diagnostic classification encompassing a broad group of proximal myopathies. A gene for the dominant form of LGMD (LGMD1A) has recently been localized to a 7-cM region of chromosome 5q between D5S178 and IL9. We studied three additional dominant LGMD families for linkage to these two markers and excluded all from localization to this region, providing evidence for locus heterogeneity within the dominant form of LGMD. Although patterns of muscle weakness were similar in all families studied, the majority of affected family members in the chromosome 5-linked pedigree have a dysarthric speech pattern, which is not present in any of the five unlinked families. The demonstration of heterogeneity within autosomal dominant LGMD is the first step in attempting to subclassify these families with similar clinical phenotypes on a molecular level.

Adolescent↗
PubMed1994

Single fiber EMG and repetitive stimulation of the same muscle in myasthenia gravis.

We performed RNS and SFEMG studies of the same muscle in 46 patients with myasthenia gravis. Maximum decrement to 3-5-Hz stimulation before and after maximum voluntary exercise, percentage of action potential pairs with increased jitter and blocking, and mean MCD in each study were compared. A significant decrement (> 10% decrease in CMAP area or amplitude between the first and fourth response) was never found without increased jitter and impulse blocking on SFEMG. Increased jitter, blocking, and mean MCD were each correlated with maximum decrement (r > 0.61, P < 0.0001). We conclude that decrement to RNS and impulse blocking on SFEMG result from the same physiologic phenomenon, and that SFEMG is more sensitive at detecting disordered neuromuscular transmission given its ability to detect impulse blocking at levels below the resolution of RNS and increased neuromuscular jitter when there is not blocking.

Adolescent↗
PubMed1993

AAEM case report #26: seventh cranial neuropathy.

A 25-year-old man with acute, bilateral facial palsies is presented. He had a lymphocytic meningitis, history of tick bites, and lived in an area endemic for Lyme disease, which was ultimately confirmed by serology. Electrodiagnostic investigation included facial motor nerve study, blink reflex and electromyography of facial muscles, which were indicative of a neurapraxic lesion on the right and an axonopathic lesion on the left. The clinical course was consistent with these findings as the right side fully recovered and the left remained plegic. The clinical features of Lyme associated facial neuritis are reviewed, as is the electrodiagnostic evaluation of facial palsy.

Adult↗
PubMed1992

Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy.

OBJECTIVE: To determine whether a specific subtype of glycogen storage disease type III is associated with myopathy and cardiomyopathy. DESIGN: Case series. SETTING: Three referral medical centers. PATIENTS: All patients with glycogen storage disease type III who were followed in 1990 and for whom both immunoblot analysis and clinical data were available. MAIN OUTCOME MEASURES: Evaluation for myopathy and cardiomyopathy included determinations of serum creatine kinase activity; muscle strength testing; ischemic exercise testing; nerve conduction studies; and electromyographic, electrocardiographic, and echocardiographic studies. RESULTS: Three patients with deficient debranching enzyme activity and deficient immunoreactive material in liver but normal debranching enzyme activity in muscle (glycogen storage disease IIIb) had no clinical evidence of myopathy or cardiomyopathy. Serum creatine kinase activity, muscle strength, ischemic exercise testing, electrocardiograms, and echocardiograms were normal in these patients. These studies and electromyograms were abnormal in seven patients with total debranching enzyme deficiency and an absence of immunoreactive material in both liver and muscle (glycogen storage disease IIIa) and in three patients who had debranching enzyme transferase deficiency but normal glucosidase activity in both liver and muscle (glycogen storage disease IIId). All 10 of these patients had progressive myopathy, and 6 had progressive cardiomyopathy. CONCLUSION: Clinical features of glycogen storage disease type III correlate with the particular biochemical defect seen with the disorder. Assessments of debranching enzyme or debranching enzyme transferase activity in muscle can be used to predict whether patients with glycogen storage disease type III will develop myopathy and cardiomyopathy.

Adolescent↗
PubMed1992

Technical artifact simulating "motor axonopathy".

We describe 3 patients, referred for other problems, whose nerve conduction studies revealed low compound motor amplitudes, normal motor conduction velocities and normal sensory nerve studies, consistent with a motor axonopathy. EMG was normal. The unexpected nature of these findings precipitated a search for technical artifact. A partial transection of the active electrode was found. After replacement, repetition of the motor studies was normal. Our explanation was of a normal "reference" signal being subtracted from a present but diminished "active" signal.

Artifacts↗
PubMed1992

Markers of keratinocyte differentiation in snuff-induced leukoplakia.

Biopsy specimens from 12 patients who used snuff and had leukoplakia in the mucosa of the oral cavity were studied and compared with specimens from their own nonleukoplakic oral mucosa, as well as with biopsy specimens from corresponding areas of the oral cavity in 12 nonsmoking, nontobacco-using control subjects. The biopsy specimens were processed using standard immunohistochemical rabbit antibody to human involucrin and mouse antibody to human transglutaminase type I as the primary antibodies. A computer-driven light absorbance image analysis system was used to determine the optical density of each of the marker-stained specimens. Optical density measurements were compared using a one-way analysis of variance. The expression of involucrin was significantly higher in the epithelium of the nonsmoking, nontobacco-using control subjects (0.2937 +/- 0.0725 optical density) in comparison with the normal-appearing mucosa (0.2283 +/- 0.0488 optical density) and the leukoplakic mucosa of the snuff-using patients (0.2007 +/- 0.0669 optical density) (p < 0.05). The expression of transglutaminase type I was also significantly higher in the epithelium of the nonsmoking, nontobacco-using controls (0.2308 +/- 0.1381 optical density) than in the patients with leukoplakic mucosa (0.1310 +/- 0.0472 optical density) (p < 0.05). However, there was no difference when compared with the normal-appearing mucosa of the patients in the snuff-using group (0.1686 +/- 0.0323 optical density). This study has shown that involucrin and transglutaminase type I are expressed differently in leukoplakic oral mucosa of snuff users and in normal oral mucosa and that this difference can be measured objectively.

Adult↗
PubMed1991

Steroid-responsive tubular aggregate myopathy.

We report a man with an acute myalgia/cramp syndrome and tubular aggregates on his muscle biopsy. He was placed on prednisone and was found to be exquisitely sensitive to the drug, with changes of only 5 mg precipitating recurrence of symptoms. He was eventually tapered off all steroids, without symptoms, and repeat biopsy showed no tubular aggregates. We recommend similar patients be given a trial of high-dose steroids.

Biopsy↗
PubMed1991

Treatment of antenatal myasthenia gravis.

Maternal myasthenia gravis has been associated with the presence of neonatal myasthenia and sometimes fatal congenital anomalies. As a result, antenatal therapy directed at fetal sequelae may be indicated. We present the case of a pregnant myasthenic woman whose two previous pregnancies had ended in neonatal deaths from fetal deformations that were presumably due to maternal myasthenia. Serial plasmaphereses and oral prednisone therapy were used in an attempt to depress maternal anti-acetylcholine receptor antibody titers. As anti-acetylcholine receptor antibody titers fell, fetal breathing movements became apparent by ultrasound, and as these titers rose, no fetal breathing movements were apparent. Our patient delivered an infant with transient neonatal myasthenia but normal pulmonary development and no deformations. We suggest that the therapy given may have improved the outcome of this pregnancy compared with her two previous pregnancies.

Administration, Oral↗