Molecular genetic analysis of Charcot-Marie-Tooth 1A duplication in Norwegian patients by quantitative photostimulated luminescence imaging.

Around 70% of Charcot-Marie-Tooth 1 (CMT1) cases are caused by a dominantly inherited 1.5-Mb duplication at 17p11.2-12 (CMT1A). Using photostimulated luminescence (PSL) imaging of MspI Southern blots, hybridization signals of the probe pVAW409R3a in relation to cohybridized probe SF85a, were densitometrically quantified and an RFLP allele-band ratio determined. A total of 55 Norwegian CMT patients and 16 asymptomatic family members from 26 separate families, clinically and neurophysiologically classified as CMT1 (n=46) and CMT2 (n=9), were studied. Thirty-two of 46 CMT1 cases (69.6%), all heterozygous but one homozygous for the pVAW409R3a MspI polymorphism, from 12 of 21 families (57.1%) were positive for the CMT1A duplication. In autosomal dominant familial cases (n=30), 26 of 30 cases (86.7%), all heterozygous, from six of seven families (85.7%) were positive for duplication. None of the CMT2 patients, asymptomatic family members or healthy controls were positive for duplication. The CMT1A frequency of duplication in Norwegian CMT1 patients is in general agreement with those reported in other European countries and the present results show that quantitative densitometric PSL imaging is a highly reliable test in diagnosing CMT1A duplication.

FcgammaRIIA and FcgammaRIIIB polymorphisms in myasthenia gravis.

The Fcgamma receptors, FcgammaRIIA and FcgammaRIIIB contain polymorphisms with different capacity for IgG binding and phagocytosis. Thirty myasthenia gravis (MG) patients and 49 healthy controls were genotyped for the FcgammaRIIA and FcgammaRIIIB polymorphisms using polymerase chain reaction. The frequency of the FcgammaRIIA-H/H genotype was increased in thymoma MG patients compared to other MG patients (P = 0.05) and controls (P = 0.02). The distribution of FcgammaRIIIB alleles in MG patients did not differ from the controls, but MG patients with the NA1/NA1 genotype had the most severe MG (P = 0.01). Levels of AChR-antibodies and frequency of titin or ryanodine receptor antibodies were not associated with the FcgammaRIIA or FcgammaRIIIB genotypes. The results suggest different pathogenetic mechanisms in paraneoplastic and non-paraneoplastic autoimmune MG.

Expectation and attainment of nursing careers.

This study was designed to replicate and extend an investigation completed 15 years ago, which was related to recruitment into the nursing profession. The data are provided by the National Longitudinal Study (NLS) of youths followed from high school through young adulthood. The design involved classification of the NLS sample into three groups based on career interest in nursing and ultimate occupational attainment: (1) those who expected to become nurses when in high school and did so; (2) those who expected to become nurses in high school but did not; and (3) those who had other occupational expectations in high school but became nurses. These three recruitment types were analyzed relative to four demographic variables. Only 34% of those who planned to become nurses did so. Those who did not attain their goal were more often from low socioeconomic backgrounds, had lower aptitudes, and were more often nonwhites than were other nursing recruits. Youth in the other two groups were very similar on all variables. Findings were generally consistent with those found in the earlier study although several differences were noted in the composition of the typologies used, indicating that the pattern of recruitment is changing.