An important risk factor in idiopathic generalized epilepsies

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Helbig et al. (2009)
Nature Genetics 41(2):160–162     

Assessment of an abbreviated odorant identification task for children: a rapid screening device for schools and clinics

To validate the level of olfactory performance of children, we tested 825 volunteers, aged 4–17 years, with an abbreviated form of our pediatric odorant identification task. The test consisted of sniffing and identifying five odorants (baby powder, bubble gum, candy cane, licorice and peach). Mean olfactory scores increased as a function of age, reaching a plateau of about 94–95% correct at 8 years of age. In general, girls out–performed boys. Physicians require a test instrument such as the one we have devised to allow them to diagnose olfactory dysfunction in children. The present task is particularly applicable in screening large numbers of children in clinics or schools because it can be administered easily and rapidly. Adult subjects with olfactory dysfunction also performed poorly on this odorant identification task designed for children. Therefore, we expect that our odorant identification task will also detect children with severe olfactory dysfunction.     

Expanded possibilities of the treatment of vulvar cancer by plastic reconstructive procedures

By means of 5 examples it is demonstrated, in which way large defects in the vulvar region can be covered plastically. Dependent on the situation a simple local tissue displacement (according to the principle of transpositionplasty) or a myocutaneous flapplasty using the m. tensor fasciae latae or the m. gluteus maximus will be favourable. These expanded possibilities for treatment of carcinoma of the vulva by own experiences are so convincing, that their application is recommendable on a larger scale and will be an enrichment in operative gynaecology. The techniques described can be used by gynaecologists with appropriate operative and clinical experience.     

Accelerometry to distinguish psychogenic from essential or parkinsonian tremor

The authors measured postural wrist tremor with accelerometry in patients with psychogenic (n = 6), essential (n = 11), and parkinsonian (n = 12) tremor. Tremor was measured in one hand, while the other hand either rested or tapped to an auditory stimulus at 3 and 4 or 5 Hz. Psychogenic tremors showed larger tremor frequency changes and higher intraindividual variability while tapping. Accelerometry may differentiate psychogenic from essential and parkinsonian tremor.     

Sensory training for patients with focal hand dystonia

Some patients with focal hand dystonia have impaired sensory perception. Abnormal sensory processing may lead to problems with fine motor control. For patients with focal hand dystonia who demonstrate sensory dysfunction, sensory training may reverse sensory impairment and dystonic symptoms. We studied the efficacy of learning to read braille as a method of sensory training for patients with focal hand dystonia. Sensory spatial discrimination was evaluated in 10 patients who had focal hand dystonia and 10 age- and gender-matched controls with a spatial acuity test (JVP domes were used in this test). Clinical dystonia evaluation included the Fahn dystonia scale and time needed to write a standard paragraph. Each individual was trained in braille reading at the grade 1 level for 8 weeks, between 30 and 60 minutes daily, and was monitored closely to ensure that reading was done regularly. Both controls and patients demonstrated improvement on the spatial acuity test. Patients showed a significant mean difference from baseline to 8 weeks on the Fahn dystonia scale. Sixty percent of the patients shortened the time they needed to write a standard paragraph. Improved sensory perception correlated positively with improvement on the Fahn dystonia scale. We conclude that training in braille reading improves deficits in spatial discrimination and decreases disability in patients with focal hand dystonia.