Ambiguous results of an attempt to withdraw barbiturates in epilepsy patients with intellectual disability.

Phenobarbital and primidone frequently have adverse effects on mental functions. Therefore, an attempt was made to taper barbiturates in 85 patients out of a resident population with epilepsy and intellectual disability who were selected according to clinical criteria. The objectives were to reduce the use of barbiturates, to improve the patients' cognitive and psychological state, and to reduce polypharmacy while avoiding seizure exacerbation. Four months after complete withdrawal changes in seizure frequency were assessed as well as changes in cognitive abilities, psychological state and behaviour (using the clinical global impression scale). In 13 patients the tapering failed due to complications (seizure increase in 11 patients). In 72 patients the barbiturate was completely withdrawn (mean duration of tapering: 393 days). Cognitive improvement was achieved in 17 patients (23.6%), 5 patients (6.9%) deteriorated. Seizure frequency remained unchanged in 33 patients (45.8%), in another 15 patients (20.8%) the seizure frequency decreased. Reduction in polypharmacy was obtained in 61 patients (84.7%). In an overall judgement (clinical global impression scale) of cognitive abilities AND seizure control, 25 patients (34.7%) were improved. 31 patients (43.1%) remained unchanged while 12 patients deteriorated (4 patients: impossible to judge). For statistical analysis three outcome groups were defined: the improved group (N=25), the unchanged group (N=31), and the deteriorated/failed group (N=25) consisting of the 12 deteriorated patients plus the 13 patients in whom tapering failed. Stepwise logistic regression revealed a history of an attempt to withdraw phenobarbital/primidone (p=0.017; OR 3.8), age (p=0.012) and seizure frequency (marginally significant: p=0.097) as outcome predictors. Older age was associated with better outcome. A high seizure frequency before tapering was related to good outcome, while seizure freedom and a history of failed withdrawal were associated with deterioration/failure. Outcome did not depend on duration of barbiturate therapy, dosage or serum concentration, co-medication, reduction rate, degree of intellectual disability, or epilepsy syndrome. In summary, the number of barbiturate medications has been considerably reduced, but the principal aim of the project, to relieve patients from assumed barbiturate side effects, has been achieved only in one out of four patients.

Screening cardiac ultrasonographic examination in patients with suspected cardiac disease in the emergency department.

BACKGROUND/OBJECTIVE: Our purpose was to evaluate the utility of a brief screening cardiac ultrasonographic (SCU) examination. We prospectively compared the SCU with conventional clinical evaluation in 124 emergency department (ED) patients with suspected cardiac disease. Furthermore, we assessed the impact and quality of SCU examinations as obtained by briefly trained ED personnel (EP). METHODS: Patients underwent clinical evaluation by an ED physician and SCU examination by a sonographer or cardiologist. Patient disposition, hospital stay length, and the number of full echo examinations were compared with the presence of significant findings on SCU. In patients who received a full echocardiogram during hospitalization, results of the initial clinical examination were compared with results of the SCU examination in the diagnosis of significant findings. A similar analysis, but with quality assessment, was performed on only those SCU examinations acquired by 4 EP. RESULTS: Of the 124 patients enrolled in the main study, 40 of 124 (32%) had significant findings on SCU. Of patients with abnormal SCUs versus normal SCUs, 16 of 40 (40%) versus 18 of 84 (21%) had hospital stay lengths >2 days (P < or =.05). Using the 36 inpatient full echo studies obtained for standard indications during hospitalization as a gold standard, initial clinical examination identified only 7 of 30 (23%) significant findings and had 16 false-positive diagnoses, whereas SCU identified 22 of 30 (73%) with 8 false positives. Although similar study results occurred with interpretation of 68 SCUs obtained by EP, quality was achieved in only 55% ED personnel versus 97% of sonographer-obtained SCUs (P <.05). CONCLUSIONS: An SCU examination detects significant findings misdiagnosed on initial clinical evaluation in the ED and provides prognostic data regarding length of hospital stay.

[X-chromosomal recessive spinobulbar muscular atrophy (Kennedy type). Description of a family, clinical aspects, molecular genetics, differential diagnosis and therapy]. / Die X-chromosomal rezessive spinobulbäre Muskelatrophie (Typ Kennedy). Beschreibung einer Familie, Klinik, molekulare Genetik, Differentialdiagnose und Therapie.

The Kennedy-Syndrome is a X-linked recessive bulbospinal muscular atrophy, in some cases associated with endocrinological disturbances such as androgen resistance and diabetes mellitus. The age of onset is usually between 20 and 40. Presenting symptoms are proximal flaccid weakness, fasciculations, cramps or tremor. Disease progression is usually slow and live expectancy is normal. It is important to distinguish the Kennedy-Syndrome from amyotrophic lateral sclerosis, spinal muscular atrophy, muscular dystrophies and other types of motor neuron disease. Kennedy disease is caused by an expanded trinucleotide repeat in the androgen receptor gene. Genetic analysis allows a precise-diagnosis on an individual basis and reliable genetic counselling. An effective medical treatment does not yet exist.