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Biomedical subjects

C J de Weerdt

Publications and source records attributed to C J de Weerdt.

At least 19 recordsLinked to original sources
PubMed2004

Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation.

Plectin is one of the largest and most versatile cytolinker proteins known. Cloned and sequenced in 1991, it was later shown to have nonsense mutations in recessive epidermolysis bullosa with muscular dystrophy. A dominant mutation in the gene was found to cause epidermolysis bullosa simplex Ogna without muscular dystrophy. Here we report the DNA sequencing of the plectin gene (PLEC1) in a Dutch family originally described in 1972 as having epidermolysis bullosa with muscular dystrophy. The results revealed homozygosity for a new plectin nonsense mutation at position 13187 and its specific 8q24 marker haplotype profile. Western blotting of cultured fibroblasts and immunofluorescence microscopy of skin biopsy confirm that the plectin protein expression is grossly reduced or absent. A summary of the life-long clinical course of the two affected brothers homozygous for the new E1914X mutation is given.

Base Sequence↗
PubMed1988

A controlled trial of nimodipine in acute ischemic stroke.

Recent investigations suggest that increased cellular calcium concentrations may be implicated in neuronal death after ischemia. To determine whether treatment with a calcium-channel blocker would improve survival and neurologic outcome in acute ischemic stroke, we enrolled 186 patients in a prospective, double-blind, randomized, placebo-controlled trial of nimodipine (30 mg every six hours), begun within 24 hours of the onset of symptoms of an acute ischemic stroke. During the four-week treatment period, mortality from all causes was significantly reduced with nimodipine as compared with placebo (8 deaths [8.6 percent] vs. 19 [20.4 percent]). The improvement in survival was restricted to men. During the follow-up period of six months, an additional eight patients in each group died. A significantly better neurologic outcome, as assessed by the Mathew scale of neurologic deficit, was also observed in the nimodipine group. The improvement in neurologic status was greatest in patients with a moderate to severe deficit at base line. There were no important side effects except for one episode of reversible azotemia that may have been related to treatment with nimodipine. Our data suggest that patients with acute ischemic stroke may benefit from early treatment with nimodipine, but this therapeutic effect appears to be limited to men.

Aged↗
PubMed1988

Assessment of interobserver variability in a Dutch multicenter study on acute ischemic stroke.

Quantitative assessment of patient data is a pertinent part of controlled clinical studies. When several centers are involved, the degree of agreement between different observers becomes important. Therefore, in addition to developing a multicenter study on acute ischemic stroke, we have estimated the interobserver agreement expressed in terms of kappa statistics. Twelve patients suffering from neurologic deficits due to acute ischemic stroke were examined by four investigators, and the results were assessed using the Mathew scale. Considerable interobserver variability was found. Agreement on items based on subjective information from the patient was low, and it is also possible that this information changes with time. It is advised that in the development of assessment scales, items with low interobserver agreement should be avoided.

Acute Disease↗
PubMed1987

Sympathetic dysfunction in patients with persistent pain after prolapsed disc surgery. A thermographic study.

Vasomotor function in the lower limbs was tested by means of thermography in 48 patients with and without residual complaints after surgery for a prolapsed intervertebral disc. There is a definite correlation between the severity of the complaints and the thermographic responses which corresponds well with the evidence for a sympathetic reflex dystrophy of the legs (causalgia).

Adult↗
PubMed1976

Congenital retarded myelinization in a new-born child with infantile spasms.

A new-born child with frequent infantile spasms was investigated. In a cachectic state it died at the age of 11 months. Biopsy of the cerebral cortex revealed a retarded myelinization; at autopsy this slight myelinization was found again. The ganglioside pattern suggested a developmental stage of approximately 3 months before birth. This is a case with a congenital failure of myelinization.

Autopsy↗