Hereditary amyloidosis of the Finnish type in a German family: Clinical and electrophysiological presentation

Hereditary amyloidosis of the Finnish type (HAF, or familial amyloid polyneuropathy type IV) is an autosomal dominant disease that has been described most commonly in the Finnish population but has also been found in some other countries. Herein we report the first German family whose members suffer from this condition. There are no known Finnish ancestors. We performed clinical and electrophysiological examinations in 22 members of this family. All symptomatic family members suffered from facial palsy, and most of them had peripheral neuropathy. One patient had confirmed corneal lattice dystrophy. Additional symptoms were hypoglossal nerve involvement in 5 patients and oculomotor nerve palsy in 1 patient. The lips of all older patients appeared thickened. The causative G654A mutation in the gelsolin gene was found in all affected family members. Muscle Nerve, 2010     

Prevention of AIDS dementia by HAART does not depend on cerebrospinal fluid drug penetrance

The impact of the cerebrospinal fluid (CSF) penetrance properties of different highly active antiretroviral therapy (HAART) regimes on cognitive processing in AIDS dementia is still undetermined. We therefore designed a retrospective cross-sectional and prospective longitudinal analysis of event-related potentials in HIV-infected patients with different combinations of HAART or without antiretroviral treatment. A total of 353 consecutive patients without secondary CNS manifestation of HIV infection were enrolled in the cross-sectional study and 135 consecutive patients without secondary CNS manifestations of HIV infection were enrolled in the longitudinal study. HAART in different combinations (n = 306) or no antiretroviral treatment (n = 47) was given for at least 6 months in the retrospective cross-sectional study. HAART in different combinations (n = 110) or no antiretroviral treatment (n = 25) was given for 1 year in the prospective longitudinal study. We evaluated the latency and amplitude of the P3 component of visually evoked event-related potentials and mean choice reaction time as measures of cognitive processing. Patients receiving HAART had decreased P3 latencies as compared to those patients not receiving HAART but P3 latency and P3 amplitude were not correlated with the amount of CSF penetrance of the different HAART combinations in either statistical analysis. However, mean choice reaction time was significantly correlated with the amount of CSF penetrance. In HIV-infected patients, the CSF penetrance properties of HAART do not have any significant influence on cognitive processing as measured by event-related potentials.     

Impact of highly active antiretroviral therapy on cognitive processing in HIV infection: cross-sectional and longitudinal studies of event-related potentials

Patients with HIV infection often complain of cognitive disturbances, which can be related to AIDS dementia or HIV-associated encephalopathy (HIVE). We investigated the impact of highly active antiretroviral therapy (HAART) in comparison with other therapeutic regimens on the progression of these cognitive disturbances as measured by visual event-related potentials (ERP). In a cross-sectional study, 214 patients without secondary neuromanifestation of their infection were divided into four groups with respect to their treatment status for 1 year before examination: (1) without antiretroviral treatment, (2) zidovudine monotherapy, (3) zidovudine in combination with didanosine, zalcitabine, or lamivudine, and (4) HAART. In a prospective longitudinal study, we divided 54 patients into three groups: (1) without antiretroviral treatment, (2) zidovudine monotherapy, and (3) HAART. Latencies of the P2, N2, and P3 components and the amplitude of the P3 component were evaluated. A significant negative correlation between CD4(+) lymphocyte cell count and P3 latency was found in all patients (p < 0.004). In the cross-sectional study, P3 latency was significantly decreased in the HAART group as compared with patients with no antiretroviral treatment (p < 0.01). During the 1-year period of the prospective longitudinal study, the P3 latency significantly increased in patients with no antiretroviral treatment (p < 0.05) and significantly decreased in patients with HAART (p < 0.05). In summary, these results suggest that HAART has an improving therapeutic effect on cognitive processing in HIV-infected patients and is superior to zidovudine monotherapy or dual antiretroviral treatment. Because prolongation of ERP might in part reflect HIVE, we conclude that this condition represents an indication for HAART.     

Paraneoplastic subacute cerebellar degeneration in Hodgkin's disease Report of three cases and review of the literature

12 cases of paraneoplastic cerebellar degeneration with Hodgkin's disease have so far been reported. Three additional patients (Stage II-IA / IIA / IIIB) are presented. Although CT and MR-imaging (MRI) revealed a marked cortical atrophy of the cerebellum, there was no evidence of direct brain involvement. After irradiation and chemotherapy all patients showed a complete remission. There was no evidence of primary disease after an observation period of 3/2/5 years. Cerebellar symptoms also showed a partial remission.

As compared to the literature, our treatment appears to be more favourable, probably due to the fact, that therapy was more aggressive than usual.     

Influence of different obstetric-manipulations on the continuous measured pO2-tension upon the fetus sub partu (author's transl)

The influence of different obstetric-manipulations and medicamental applications was investigated in regard of the continuous measured fetal intrauterine pO2-tension sub partu. By demonstrating some original registrations it was intended to point out the efficiency of these obstetric-manipulations.     

Pre-attentive cognitive processing in epilepsy. A pilot study on the impact of epilepsy type and anti-epileptic treatment

Patients suffering from epilepsy often complain of deficits in attentive cognition affecting, for instance, concentration, reaction time, memory and psychomotor speed. We were interested in the impact of epilepsy and its treatment on pre-attentive cognitive functions and enrolled 107 subjects (50 male, 57 female; mean age 26 years): 50 patients with partial epilepsy, 15 with primary generalised epilepsy and 42 healthy controls. We used a new computer-adapted neuropsychological test (called textest), measuring the pre-attentive visual processing speed. The subjects had to discriminate 5 different stimuli presented on a computer screen. As a primary result, we calculated the time the subject needed to detect 50% of the demonstrated stimuli correctly (t-50 time). We also applied the d2 test. For the textest results, no significant group differences between the different patient and healthy groups could be revealed, except for a significantly increased t-50 time in patients with polytherapy compared with the control group. Compared with healthy controls, significantly worse d2 test results were found in patients with epilepsy in general, a duration of disease >1 year, anti-epileptic drug therapy in general and in patients receiving polytherapy in particular (all p < 0.001). Our data suggest that polytherapy, but not monotherapy or the subtype of epilepsy, might have a slowing impact on pre-attentive cognitive processing.     

Hypotonia bulbi bei Leukämie

Ohne Zusammenfassung     

Transsphenoidal computer-navigation-assisted deflation of a balloon after endovascular occlusion of a direct carotid cavernous sinus fistula

SUMMARY: A 49-year-old woman with a direct posttraumatic carotid cavernous fistula (CCF) was treated with detachable balloons via a transcarotid route. After the procedure, her intracranial bruit, conjunctival injection, and orbital congestion were cured, but the preexistent sixth nerve palsy deteriorated. CT showed one balloon positioned in the posterior portion of the right cavernous sinus and was regarded to be responsible for nerve compression. After surgical exposure by use of a transnasal-transsphenoidal approach under 3D navigation control, this balloon was deflated by puncture with a 22-gauge needle. The previously described symptoms resolved after balloon deflation. This report presents a rare complication of endovascular treatment of direct CCF and a new microsurgical approach to a balloon in a case of nerve compression.