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Biomedical subjects

L A Chui

Publications and source records attributed to L A Chui.

8 recordsLinked to original sources
PubMed1979

Myotonia congenita (Thomsen's disease). Early diagnosis in infancy.

A family with myotonia congenita. (Thomsen's disease) is reported in which the father and his two offspring are affected. The course was characterized by the early onset of clinical manifestations in both the father and his two children. In one child, a clinical and electrical diagnosis of the disease was made as early as two weeks of age. Early manifestations were breathing difficulty and eye closure myotonia. The importance of early recognition of the disorder is emphasized.

Adult↗
PubMed1978

Effect of parathyroid hormone and uremia on peripheral nerve calcium and motor nerve conduction velocity.

Peripheral neuropathy is not an uncommon complication of chronic uremia. Because parathyroid hormone, by raising brain calcium, is partly responsible for central nervous system aberrations in uremia, we studied the relative role of uremia, per se, and(or) parathyroid hormone on peripheral nerve calcium and motor nerve conduction velocity (MNCV). Studies were made in six groups of six dogs each, as follows: (a) normal dogs, (b) thyroparathyroidectomized (T-PTX) animals, (c) dogs with 3 days of uremia produced by bilateral nephrectomy, (d) T-PTX before the induction of acute renal failure, (e) normal dogs receiving 100 U/day of parathyroid extract (PTE) for 3 days, and (f) normal animals receiving 3 days of PTE followed by 5 days without PTE. Calcium content in peripheral nerve (expressed as milligram per kilogram of dry weight) was 252+/-5 (SE) in normal animals and 262+/-4 in T-PTX dogs. It was significantly (P < 0.01) higher in dogs with acute renal failure and intact parathyroid glands (410+/-12) and in normal animals receiving PTE (362+/-7). T-PTX, before acute renal failure, prevented the rise in peripheral nerve calcium (262+/-4) and PTE withdrawal was followed by the return of peripheral nerve calcium to normal (261+/-3). The increments in peripheral nerve calcium were associated with slowing of MNCV. It decreased significantly from 70+/-4 to 43+/-1 m/s after 3 days of acute uremia in dogs with intact parathyroid glands and T-PTX before acute renal failure prevented the fall in MNCV. Administration of PTE to normal animals reduced MNCV from 63+/-3 to 35+/-3 m/s and the withdrawal of PTE restored MNCV to normal (73+/-2 m/s). The results show that (a) excess parathyroid hormone increases peripheral nerve calcium and slows MNCV, (b) T-PTX, previously performed, prevents these changes in acute uremia, and (c) the withdrawal of PTE administration is followed by a reversal of the abnormalities.

Animals↗
PubMed1976

Dominant inheritance of McArdle syndrome.

Myophosphorylase deficiency (McArdle syndrome) is an uncommon condition characterized by exercise intolerance, muscle cramping, and myoglobinuria. Although the original report by McArdle dealt with a sporadic case, subsequent cases reported in the literature show high familial incidence and consanguinity, implying that the defect is transmitted as a rare recessive gene or a possible sex-limited mode of inheritance. The present report describes the clinical, histoenzymatic, and biochemical findings in a 40-year-old woman with myophosphorylase deficiency. The family history reveals that four other members are also affected: an older sister, a younger brother, a 10-year-old son, and her 75-year-old mother, and possibly her maternal grandmother. Because of this particular pattern of direct transmission in this family, a dominant inheritance is postulated.

Adolescent↗
PubMed1975

Tubular aggregates in subclinical alcoholic myopathy.

A 34-year-old chronic alcoholic with acute alcoholic intoxication was found to have extensive aggregates on muscle biopsy performed 48 hours after admission. Forearm ischemic exercise failed to demonstrate normal generation of lactic acid. Pathologic changes in the muscle biopsy consisted of subsarcolemmal accumulations of bright purple-red material with trichrome reaction. This material stained darkly with NADH-TR but was unstained with myofibrillar ATPase and Pas. Ultrastructural studies revealed that these regions contained tubular aggregates. A second biopsy 7 days later failed to demonstrate any significant abnormalities. Two weeks later, lactate generation was normal. Previous observations by other authors that tubular aggregates may be concerned with correction of metabolic defect or detoxification of endogenous toxins could apply in our case.

Adult↗
PubMedDate not supplied

Effect of ethanol on lactic acid production by exercised normal muscle.

Several studies have suggested that muscle lactic acid production is defective in alcoholic myopathy. However, normal controls have not been evaluated. To study the effects of ethanol on the production of lactic acid in normal exercised muscle, oral ethanol (1 g per kg body weight, 20% v/v) was given to eight nonalcoholic subjects. Forearm ischemic exercise with a total work load of 7.2 kg-m/min was performed just before and 90 min after ingestion of ethanol. At the time of exercise, the serum ethanol level was 95.7 +/- 15.1 mg% (mean +/- SD). Resting serum lactic acid was significantly higher after ingestion of ethanol (15.7 +/- 4.5 mg%) than before (8.5 +/- 4.7 mg%). Lactic acid generation with ischemic exercise was significantly lower after ethanol ingestion. The mean peak serum lactic acid level (expressed as percentage elevation above resting) was 330.5 +/- 118.2% before and 127.9 +/- 75.1% after (p less than .05). These results indicate that a single oral dose of ethanol decreases lactic acid production by exercised muscle in normal subjects.

Adult↗