The motor function measure to study limitation of activity in children and adults with Charcot-Marie-Tooth disease

AbstractObjectiveTo study the applicability and responsiveness of the motor function measure (total score and sub-scores D1, D2 and D3) in patients with Charcot-Marie-Tooth disease.Patients and methodsTwo hundred and thirty-three patients aged 4–86 years were included in the descriptive study. Scores and sub-scores were analyzed by age and by disease subtypes. Sensitivity to change (responsiveness) was estimated in patients having had at least two evaluations with at least six months between the first and the second.ResultsMotor function measure scores decrease with age, especially sub-scores D1 and D3. There were no significant differences between the scores according to type of Charcot-Marie-Tooth disease. The scores were significantly higher for ambulatory than for non-ambulatory patients. Significant responsiveness was demonstrated only in type 2 Charcot-Marie-Tooth disease.Discussion/conclusionsOur results suggest that, especially for D1 and D3 sub-scores, the motor function measure is a reliable and valid outcome measure that can be usefully applied in longitudinal follow-up. Studies of longer duration could demonstrate its responsiveness in other Charcot-Marie-Tooth disease subtypes

Spin-phonon coupled modes in the incommensurate phases of doped CuGeO3_{3}

The doping effect of the folded phonon mode at 98 cm$^{-1}$ was investigated on the Si-doped CuGeO$_3$ by magneto-optical measurements in far-infrared (FIR) region under high magnetic field. The folded phonon mode at 98 cm$^{-1}$ appears not only in the dimerized (D) phase but also in the dimerized-anitiferromagnetic (DAF) phase on the doped CuGeO$_3$. The splitting was observed in the incommensurate (IC) phase and the antiferromagnetically ordered incommensurate (IAF) phase above $H_C$. The split-off branches exhibit different field dependence from that of the pure CuGeO$_3$ in the vicinity of $H_C$, and the discrepancy in the IAF phase is larger than that in the IC phase. It is caused by the interaction between the solitons and the impurities.Comment: 7 pages, 4 figures, resubmitted to Phys. Rev.

Cu Nuclear Quadrupole Resonance Study of the Spin-Peierls Compound Cu1-xMgxGeO3: A Possibility of Precursory Dimerization

We report on a zero-field 63Cu nuclear quadrupole resonance (NQR) study of nonmagnetic Mg impurity substituted Cu1-xMgxGeO3 (single crystals; the spin-Peierls transition temperature Tsp~14, 13.5, and 11 K for x=0, 0.0043, and 0.020) in a temperature range from 4.2 K to 250 K. We found that below T*~77 K, Cu NQR spectra are broadened and nonexponential Cu nuclear spin-lattice relaxation increases for undoped and more remarkably for Mg-doped samples. The results indicate that random lattice distortion and impurity-induced spins appear below T*, which we associate with a precursor of the spin-Peierls transition. Conventional magnetic critical slowing down does not appear down to 4.2 K below Tsp.Comment: 4 pages, 4 figure

Revival of the spin-Peierls transition in Cu_xZn_(1-x)GeO_3 under pressure

Pressure and temperature dependent susceptibility and Raman scattering experiments on single crystalline Cu_xZn_(1-x)GeO_3 have shown an unusually strong increase of the spin-Peierls phase transition temperature upon applying hydrostatic pressure. The large positive pressure coefficient (7.5 K/GPa) - almost twice as large as for the pure compound (4.5 K/GPa) - is interpreted as arising due to an increasing magnetic frustration which decreases the spin-spin correlation length, and thereby weakens the influence of the non-magnetic Zn-substitution.Comment: LaTeX, 15 pages, 5 eps figures, Phys. Rev. B, to appea

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.

BackgroundFacioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35. Penetrance in the range of the largest alleles is poorly known. Our objective was to study the penetrance of FSHD1 in patients carrying alleles ranging between 6 to10 RUs and to evaluate the influence of sex, age, and several environmental factors on clinical expression of the disease. Methods A cross-sectional multicenter study was conducted in six French and one Swiss neuromuscular centers. 65 FSHD1 affected patients carrying a 4qA allele of 6¿10 RUs were identified as index cases (IC) and their 119 at-risk relatives were included. The age of onset was recorded for IC only. Medical history, neurological examination and manual muscle testing were performed for each subject. Genetic testing determined the allele size (number of RUs) and the 4qA/4qB allelic variant. The clinical status of relatives was established blindly to their genetic testing results. The main outcome was the penetrance defined as the ratio between the number of clinically affected carriers and the total number of carriers. Results Among the relatives, 59 carried the D4Z4 contraction. At the clinical level, 34 relatives carriers were clinically affected and 25 unaffected. Therefore, the calculated penetrance was 57% in the range of 6¿10 RUs. Penetrance was estimated at 62% in the range of 6¿8 RUs, and at 47% in the range of 9¿10 RUs. Moreover, penetrance was lower in women than men. There was no effect of drugs, anesthesia, surgery or traumatisms on the penetrance. Conclusions Penetrance of FSHD1 is low for largest alleles in the range of 9¿10 RUs, and lower in women than men. This is of crucial importance for genetic counseling and clinical management of patients and families

Impact of clinical pharmacy on the psychotropic drugs prescription in neurological rehabilitation: A retrospective study

IntroductionPsychotropic drugs are frequently prescribed in neuro-rehabilitation. In our institution, they account for 18% of prescriptions. For several years, clinical pharmacy activities were developed in collaboration with physicians and psychiatrists. The aim of this study is to evaluate the impact of this approach by the retrospective measure of psychotropic drugs consumption over 4 years, and link them to the evolution of hospital stays recorded through the PMSI (Programme de médicalisation des systèmes d’information, France).MethodsThe study took place over the period 2010–2013. It included three steps: 1/Monitoring of psychotropic drugs consumption (antipsychotics, anxiolytics, hypnotics and antidepressants) of 9 units (225 beds), by value and treatment days calculated from the daily average dosage (THERIAQUE); 2/Identification of hospitalised patients with at least one diagnosis code of either depression, anxiety, insomnia, and/or psychotic disorders; 3/Analysis of patient data with regard to drug consumption.ResultsFrom 2010 to 2013, the cost of psychotropic drugs was reduced by 24%, from 17,617 to 13,366 euros. The number of treatment days decreased by 30% from 84,765 to 59,466 days. The most significant decline was for hypnotic drugs (–62%) (28,110 to 10,623 days), and anxiolytic drugs (–37%) (28,958 to 18,343 days). The usage of antidepressant drugs increased by 21% (19,996 to 24,154 days), while the usage of antipsychotic drugs was stable (6346 days in 2013). During the same period, the overall number of patients with psychological diagnosis code hospital stays increased by 146% (213 to 523). It can be further detailed as follows: +380% for patients with an anxiety disorder (60 to 287), +71% for patients with depressive symptoms (78 to 133). Stays of patients with psychotic disorders remained stable.DiscussionThis study illustrates that a clinical pharmacy action targeted on psychotropic drugs prescriptions in collaboration with physicians and psychiatrists has reduced their consumption in neuro-rehabilitation. This decrease concerns mainly anxiolytic drugs and hypnotic drugs, despite the rise in number of hospital stays of patients with anxiety disorders. These results follow the recent recommendations of the ANSM (Agence nationale de sécurité du médicament, France)