PubMed Health⌕ Search

Biomedical subjects

W A North

Publications and source records attributed to W A North.

11 recordsLinked to original sources
PubMed2000

FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy.

OBJECTIVE: To evaluate the incidence of the facioscapulohumeral dystrophy (FSHD) 4q35 deletion in patients with facial-sparing scapular myopathy. BACKGROUND: Scapular winging is typical of FSHD but may also be prominent in other muscle disorders including scapuloperoneal syndromes. With DNA testing, it is possible to determine if patients with facial-sparing scapular myopathy have FSHD. METHODS: Fourteen of 17 unrelated patients with facial-sparing scapular myopathy, seen over a 7-year period at a regional neuromuscular center, agreed to have DNA testing for FSHD. The clinical and laboratory features of these patients were also noted. RESULTS: Of the 14 patients, 10 (71%) had restriction fragments consistent with the 4q35 deletion. The mean size of the smaller fragment following EcoRI digestion was 29.5 kb (range 20 to 39). The mean age at onset was 19.9 years; at presentation, 44.7 years. Except for the absence of facial weakness, most patients had clinical and laboratory features otherwise consistent with FSHD. Five patients (50%) had a positive family history of similar weakness. Following removal of outliers, the Pearson correlation coefficient (r) value between EcoRI fragment size and age at onset was 0.64, and between fragment size and limb muscle strength, 0.64. CONCLUSION: The FSHD 4q35 deletion was found in 71% of the facial-sparing scapular myopathy patients. They otherwise resemble typical FSHD patients in age at onset, physical characteristics, and association between fragment size and disease severity.

Adult↗
PubMed2000

Reversible granulocytopenia in association with riluzole therapy.

OBJECTIVE: To report a case of severe neutropenia developing in association with riluzole 200 mg/d. CASE SUMMARY: A 63-year-old woman with amyotrophic lateral sclerosis (ALS) presented with nausea, anorexia, and fever two weeks following inadvertent dose escalation of riluzole from 100 to 200 mg/d. Granulocytopenia was diagnosed and evaluation for a possible causative infectious process was negative; riluzole was considered a possible offender. Blood counts returned to normal with discontinuation of riluzole and administration of filgramstim. DISCUSSION: Riluzole is a glutamate release inhibitor used in the treatment of ALS, a devastating, progressive neurodegenerative disorder affecting motor neurons. A variety of adverse effects have been described with riluzole therapy, most commonly dizziness and gastrointestinal disorders. In this patient, multiple investigations failed to reveal an infectious cause or other drug-induced cause for the granulocytopenia. CONCLUSIONS: Granulocytopenia has been reported as an adverse effect of riluzole but is not a complication well known to clinicians, and there are no detailed reports published in the literature. In this patient, several lines of evidence raise the possibility of a causal relationship between riluzole and granulocytopenia.

Agranulocytosis↗
PubMed1998

Creatine kinase values in amyotrophic lateral sclerosis.

Serum creatine kinase (CK1) values were recorded while or soon after the diagnosis of amyotrophic lateral sclerosis (ALS) was established in 140 of 217 (65%) consecutive patients seen in the Motor Neuron Disease Clinic at this center during a 5-year period. Second creatine kinase (CK2) determinations were recorded on 48 of 140 (34%) ALS patients later in the course of the disease. The mean CK1 and CK2 values (unit, times the upper limit of normal) were 1.22 (range, 0.1 to 3.0; median, 0.80) and 1.34 (range, 0.1-9.2; median, 0.80) (P=0.11, r=0.92, mean difference=28.2%). Of the 140 ALS patients, 58 (41%) (male:female ratio: 2.9:1.0) had elevated CK1 values ranging from 1.03 to 13.0 (mean, 2.21; median, 1.67). Twelve patients (8.6%) had CK1 values greater than 3.0. Mean CK1 values were significantly greater (P=0.001) in male (mean, 1.56) versus female (mean, 0.80) ALS patients, and significantly greater (P=0.009) in limb-onset (mean, 1.34) versus bulbar-onset (mean, 0.80) disease. CK1 values correlated poorly with and were not predictive of age of onset or survival.

Adult↗