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Biomedical subjects

J G Chutkow

Publications and source records attributed to J G Chutkow.

At least 19 recordsLinked to original sources
PubMed2000

Myasthenia gravis in a collegiate football player.

A 17-yr-old Division I-AA collegiate offensive lineman developed unilateral ptosis shortly after minor head trauma during a scrimmage. The subsequent temporal profile of the ptosis, a history of a similar event lasting a short period of time 2 yr earlier, and the results of his clinical and electrophysiologic examinations established a diagnosis of very mild, generalized, antibody-negative myasthenia gravis (MG). His desire to continue playing football posed several additional management problems for which there was no published guidance. We started him on alternate-day, high-dose prednisone therapy with potassium and calcium supplementation, and allowed him to partake in conditioning but no contact. Except for residual decreased exercise tolerance, he improved symptomatically and experienced no serious adverse effects from the illness or the treatment during his first season, despite imperfect drug compliance. His MG eventually came under excellent symptomatic control, allowing initiation of a slow taper of the prednisone before his second season. Shortly thereafter, he abruptly stopped the prednisone without seeking medical advice. He continued to experience mild left ptosis and a mild decrease in intense exercise tolerance. He decided to forego his senior season of collegiate football after a bout of severe mechanical low-back pain incurred during spring football practice and limited his athletic activity thereafter to recreational sports.

Adolescent↗
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↗
PubMed1988

Posterior femoral cutaneous neuralgia.

A middle-aged male developed a right posterior femoral cutaneous neuralgia that persisted for 10 years without any associated neurologic, electrophysiologic, or radiologic findings. Five years after onset, surgical exploration of the subgluteal area identified a venous malformation surrounding the nerve. The syndrome appears unique and exemplifies all major aspects of the sensory distribution of the nerve complex.

Buttocks↗
PubMed1987

Monozygotic female twin carriers discordant for the clinical manifestations of Duchenne muscular dystrophy.

We studied twin sisters, in their sixth decade, who were obligate carriers of Duchenne dystrophy. One had a slowly progressing limb-girdle myopathy since her mid-20s. The other sister showed no evidence of neuromuscular disease by history or on physical examination but had high serum CK values and degeneration and regeneration of fibers in a muscle biopsy. Otherwise, they were phenotypically identical, karyotypically normal females with cytogenetically normal X-chromosomes. Based on red cell and HLA loci antigen determinations, there was a 99.2% probability that they were monozygotic. The mutant gene segregating in the family is probably linked to the Xp21 DNA marker pERT87.

Diseases in Twins↗
PubMed1986

Adult-onset autosomal dominant limb-girdle muscular dystrophy.

We describe a kindred with a rare autosomal dominant myopathy limited to the limb-girdle muscles, beginning insidiously any time from the late second through the sixth decades and followed by slow progression. Pelvifemoral precedes scapulohumeral weakness, and proximal appendicular involvement antedates limited distal paresis. Expressivity varies and includes an asymptomatic myopathy (preclinical or subclinical) and a nonmanifesting carrier state that extends well into the eighth decade. A variety of nonspecific changes are present in muscle on light, enzyme histochemical, and electron microscopic examination; of these changes, "rimmed" or autophagic vacuoles are the most characteristic. We identified one very similar previously reported genealogy. The similarities between the two unrelated families clearly establish this dystrophic process as a distinct genetic entity; their differences suggest genetic heterogeneity.

Adult↗