Gesetzliche Krankenversicherung, Sozialgesetzbuch Fünftes Buch – SGB V

Ohne Zusammenfassung     

Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations

We analyzed 11 consecutive unrelated cases of polyneuropathy due to transthyretin amyloidosis. Direct sequencing of the promoter region, exons, and splice junctions revealed that each patient was heterozygous for a mutation: six patients had valine 30 substituted by methionine (V30----M; Portuguese-Japanese type), one had threonine 60 substituted by alanine (T60----A; Appalachian type), and two had serine 77 substituted by tyrosine (S77----Y; Illinois type). In addition, two patients had previously undescribed mutation: phenylalanine 33 substituted by leucine (F33----L) and phenylalanine 64 substituted by leucine (F64----L). From present information, the probands of these novel mutations do not exhibit any pathology that clearly distinguishes them from individuals with the other mutations. The mutations extend the range of mutations associated with amyloidotic polyneuropathy. In our 11 patients, the different mutations did not seem to correlate with distinct clinical phenotypes. We developed PASA assays (PCR amplification of specific alleles) for each of the five mutations. PASA can be used by any diagnostic laboratory that can perform PCR to rapidly detect any of the known mutations. The minority of samples with an undescribed mutation can be sent to a specialty laboratory for delineation of the mutation by direct genomic sequencing. The presently described combination of methods may have widespread utility in the diagnosis of genetic disease.     

Rare diseases mimicking acute vertebrobasilar artery thrombosis

Acute ischaemia of the vertebrobasilar circulation leads to a variety of clinical manifestation and is mostly due to cardiogenic or artery-to-artery embolism. We describe four neurological emergency situations involving vertebrobasilar artery aclusion of other origins: basilar migraine, extrinsic compression by rheumatoid inflammatory tissue, generalized vasculitis in subacute rheumatic fever and basilar artery dissection. The differential diagnosis of acute vertebrobasilar artery occlusion may have an important impact on patient management.     

Normal intracortical excitability in developmental stuttering.

Persistent developmental stuttering (PDS) shares clinical features with task-specific dystonias. In these dystonias, intracortical inhibition is abnormally weak. We therefore sought to determine intracortical inhibition and intracortical facilitation in PDS. In 18 subjects with PDS since childhood (mean age, 39.4 [SD 13.0] years) and 18 speech-fluent controls (43.6 [14.3] years), we investigated resting and active motor thresholds as well as intracortical inhibition and facilitation of the optimal representation of the abductor digiti minimi of the dominant hand using transcranial magnetic stimulation. In PDS, the resting and active motor thresholds were increased, whereas intracortical inhibition and facilitation were normal. Normal intracortical excitability makes a pathophysiological analogy between focal dystonia and PDS less likely. The enhanced motor threshold suggests reduced motor cortical neuronal membrane excitability in PDS.     

Screening for glaucomatous visual field loss. The effect of patient reliability

Eighty-eight glaucoma patients and 252 normal subjects underwent C-30-2 testing on the Humphrey Field Analyzer. The effect of fixation losses, high false-positive and false-negative response rates on visual field test results was assessed using the mirror image method of detecting asymmetry across the horizontal meridian, and the Humphrey STATPAC pattern standard deviation (PSD) and mean deviation (MD). Glaucoma patients with poor fixation (greater than or equal to 20%) had less depressed fields and fewer localized defects than those with good fixation. Fixation loss did not affect measures of localized defects or generalized depression among normal subjects. High false-positive rates (greater than or equal to 10%) were associated with less-depressed visual fields among glaucoma patients and normal subjects. Visual fields were depressed by an average of 9 dB for glaucoma patients and 7 dB for normal subjects with high false-negative rates (greater than or equal to 33%), when compared with those with low false-negative rates. Apparent localized defects were observed among normal subjects with high false-negative rates. Most of these defects were located in the superior nasal and adjacent arcuate area.