In patients with PD preselected for sleepiness, severity of sleepiness was not dependent on nocturnal sleep abnormalities, motor and cognitive impairment, or antiparkinsonian treatment. The results suggest that sleepiness-sudden onset of sleep-does not result from pharmacotherapy but is related to the pathology of PD.

No abstract

The objective of this study was to evaluate incidence and risk factors of postoperative infections, with emphasis on antibiotic prophylaxis, in a series of 4578 craniotomies. A prospective database was implemented for surveillance of postcraniotomy infections. During period A, no antibiotic prophylaxis was prescribed for scheduled, clean craniotomies, lasting less than 4 h, whereas emergency, clean-contaminated or long-lasting craniotomies received cloxacillin or amoxicillin-clavulanate. During period B, prophylaxis was given to every craniotomy. The effect of prophylaxis on craniotomy infections, independently of other risk factors, was studied by multivariate analysis. The overall infection rate was 6.6%. CSF leak, male gender, surgical diagnosis, surgeon, early re-operation, surgical duration and absence of prophylaxis were independent risk factors. CSF leak had the highest odds ratio. Antibiotic prophylaxis decreased infection rate from 9.7% down to 5.8% in the entire population (p<0.0001) mainly by decreasing rates in low risk patients from 10.0% down to 4.6% (p<0.0001). Antibiotic prophylaxis in craniotomy is effective in preventing surgical site infections even in low-risk patients.

SummaryIt is now widely accepted that haplotypic information can be of great interest for investigating the role of a candidate gene in the etiology of complex diseases. In the absence of family data, haplotypes cannot be deduced from genotypes, except for individuals who are homozygous at all loci or heterozygous at only one site. Statistical methodologies are therefore required for inferring haplotypes from genotypic data and testing their association with a phenotype of interest. Two maximum likelihood algorithms are often used in the context of haplotype-based association studies, the Newton-Raphson (NR) and the Expectation-Maximisation (EM) algorithms. In order to circumvent the limitations of both algorithms, including convergence to local minima and saddle points, we here described how a stochastic version of the EM algorithm, referred to as SEM, could be used for testing haplotypephenotype association. Statistical properties of the SEM algorithm were investigated through a simulation study for a large range of practical situations, including small/large samples and rare/frequent haplotypes, and results were compared to those obtained by use of the standard NR algorithm. Our simulation study indicated that the SEM algorithm provides results similar to those of the NR algorithm, making the SEM algorithm of great interest for haplotype-based association analysis, especially when the number of polymorphisms is quite large.

No abstract

Perioperative antibiotic prophylaxis, although clearly effective for the prevention of incision infections, does not prevent meningitis and tends to select prophylaxis resistant microorganisms.

The study of family members underlines the variable expression of NC-CAH even within a family, suggesting that modifier factors may modulate phenotype expression. Post-ACTH 21dF cannot reliably detect heterozygous subjects. Considering the high frequency of heterozygotes in the general population, it is essential to genotype the partner(s) of the patients with one severe mutation to offer genetic counseling.

Subfertility is mild in NC-CAH. However, the rate of miscarriages is lower in pregnancies occurring with glucocorticoid treatment and argues for treating NC-CAH women wanting pregnancy. In addition, considering the high rate of heterozygotes for CYP21A2 mutations in the general population, it is essential to genotype the partner of patients with a severe mutation to predict the risk of classical CAH and offer genetic counseling.