STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa

Journal of Neurology - Pompe disease is one of the few neuromuscular diseases with an approved drug therapy, which has been available since 2006. Our study aimed to determine the real-world...     

A role for cannabinoids in the treatment of myotonia? Report of compassionate use in a small cohort of patients

Journal of Neurology - The symptomatic treatment of myotonia and myalgia in patients with dystrophic and non-dystrophic myotonias is often not satisfactory. Some patients anecdotally report...     

N-nitroso-N-methyloctadecylamine in hair-care products

Fifty-three cosmetic products containing one or more of the ingredients N,N-dimethyloctadecylamine oxide, N,N-dimethyloctadecylamine and N-benzyl-N,N-dimethyloctadecylammonium chloride were analysed for N-nitroso-N-methyloctadecylamine by gas chromatography with detection by a Thermal Energy Analyzer. [1-14C]N-Nitroso-N-methyloctadecylamine was used as an internal standard. Eight of 11 products containing N,N-dimethyloctadecylamine oxide and three of 38 products containing N-benzyl-N,N-dimethyloctadecylammonium chloride were found to contain N-nitroso-N-methyloctadecylamine at levels ranging from 28 to 969 ppb. In photolysis experiments, all of these products exhibited a loss of Thermal Energy Analyzer response for N-nitroso-N-methyloctadecylamine following irradiation by ultraviolet light. In two cases, the presence of N-nitroso-N-methyloctadecylamine was confirmed by combined gas chromatography-mass spectrometry.     

Time-dependent changes in spontaneous respiratory activity in turtle brainstems in vitro

Our goal was to determine whether time-dependent changes in respiratory motor output in vitro could be minimized by altering bath solution composition. Adult turtle brainstems were bathed in standard solution, nutrient-rich Dulbecco's Eagle media (100 or 25% concentration), or standard solution with phenylbiguanide (PBG, 5-HT3 agonist which increases respiratory drive). Except for a 63% frequency increase in PBG solution, hypoglossal bursts were unaltered within 100 min of observation. Respiratory activity was abolished within 7 h in 100% Dulbecco's compared with a mean of 24-31 h in other test solutions. At 12 h, burst frequency decreased faster in standard solution and 25% Dulbecco's (-0.28+/-0.07 and -0.13+/-0.05 bursts/h, respectively) compared with PBG solution (-0.09+/-0.04 bursts/h); amplitude declined at approximately 2%/h in all solutions. The tendency for episodic discharge decreased gradually in standard solution, but was eliminated in 25% Dulbecco's and PBG solution. Certain bath solutions may minimize time-dependent frequency reductions but may also cause breathing pattern changes.     

The revised German Cystic Fibrosis Questionnaire: Validation of a disease-specific health-related quality of life instrument

Background: The assessment of health related quality of life (HRQOL) has increasingly been recognized as an important adjunct to medical outcome parameters in the monitoring of cystic fibrosis (CF) patients and in clinical studies. The Cystic Fibrosis Questionnaire (CFQ) is a disease-specific HRQOL instrument for CF patients developed in France. Translations are currently being validated in four different countries. The aim of the present study was to validate the German adaptation of the CFQ-14+. Method: On the basis of results from a first dataset (n = 197 CF adolescent and adult patients), revisions were made and retested in a second sample of 103 patients. Results: The final revised version showed good construct validity. The same nine HRQOL domains as in the French original CFQ-14+ emerged from the analyses as structurally robust scales. The internal consistencies of the HRQOL scales ranged from 0.71 to 0.94. The instrument's clinical validity was supported by severely ill patients reporting lower HRQOL than less severely ill patients on most scales. Conclusion: We conclude that the evidence supports the validity and reliability of the instrument. An important future area of application is the use in comparative multi-center international studies.     

Relating Body Image to Psychological and Sexual Functioning in Child Sexual Abuse Survivors

Cognitive-affective body image variables and their relation to long-term psychological and sexual functioning were investigated in a community sample of 57 female adult child sexual abuse (CSA) survivors and 47 comparison subjects. The Body-Self Relations Questionnaire and the Body Esteem Scale were administered to assess cognitive-affective body image. Group comparisons indicated that, after controlling for actual weight status, survivors evaluated their health more negatively and reported less body esteem regarding their sexual attractiveness than comparison subjects. Body image variables related to health and sexual attractiveness significantly explained variance on symptom measures that reflect the diverse CSA long-term sequelae. Results suggest the need for careful assessment of body image disturbances and the development of effective interventions targeting body image in the treatment of CSA survivors.     

The effect of the thermoplastic Minerva body jacket on cervical spine motion

In order to determine the extent of cervical spine immobilization provided by the thermoplastic Minerva body jacket (TMBJ) 20 healthy male subjects underwent analysis of cervical spine motion before and after TMBJ placement. Maximal cervical flexion/extension and lateral bending were measured from lateral and anteroposterior roentgenograms, respectively. Maximal cervical rotation was measured from overhead photographs. The TMBJ significantly limited flexion/extension at each level of the cervical spine, as well as rotation and lateral bending (P less than 0.001). Flexion/extension at each cervical level was found to be equal to that allowed by the halo with body jacket at most levels and less at the occiput-C1, C3-C4, and C6-C7 (as reported in studies using similar methodology). The present study suggest that the thermoplastic Minerva body jacket is a valuable option for rigid external immobilization of the cervical spine.