[Predictors of mental and physical quality of life in Huntington's disease]. / Prädiktoren der psychischen und physischen Lebensqualität beim Morbus Huntington.

BACKGROUND: The assessment of health-related quality of life (hrQoL) is an important tool in therapy studies and in the treatment of patients with Huntington's disease (HD). In the absence of causal interventions, HD therapy targets the alleviation of symptoms aiming to improve impaired hrQoL. The aim of this study was to determine the impact of disease characteristics on hrQoL in HD. METHODS: A total of 80 genetically confirmed HD patients underwent an assessment using the Unified Huntington's Disease Rating Scale, the Beck Depression Inventory, the Hamilton Rating Scale and the SF-36, a scale for the assessment of physical and mental QoL. RESULTS: Multiple regression analysis revealed that health-related physical and mental QoL was considerably influenced by the functional capacity. The mental QoL also correlated with the degree of depressive symptoms, age and the number of CAG repeats. However, there was no statistical relation between QoL and motor and cognitive abilities. DISCUSSION: This study underlines the relationship between function capacity and depressive symptoms with mental and physical QoL. This is the first time that hrQoL has been investigated in a German speaking cohort. The results are in accordance with previous studies of hrQoL in HD.

Restriction modification (RM) tests associated to additional molecular markers for screening prevalent MRSA clones in Brazil.

In this study, we associated the restriction modification (RM) tests to the polymerase chain reaction (PCR) detection of molecular markers (SCCmec III, seh, agr II-SCCmec IV, and lukSF) for revealing the main methicillin-resistant Staphylococcus aureus (MRSA) clones circulating in Brazil. This simple and rapid approach allowed a precise classification of the MRSA analyzed when compared with pulsed-field gel electrophoresis (PFGE) data.

[Mild cognitive impairment: A review of the literature]. / Die leichte kognitive Störung. Vergesslichkeit im Alter--eine Vorstufe der Demenz?

People with MCI suffer from a moderate memory impairment, from deficits in attention and cognitive flexibility but do not fulfil the diagnostic criteria of dementia. These patients feel forgetful, and sometimes may have problems with their jobs and families because of their forgetfulness. In many cases (10-15% per year), MCI is leading to Alzheimer's disease. The sooner MCI is diagnosed and treated, the better the transition into Alzheimer's disease may perhaps be delayed. The diagnostic instruments are the same as for the diagnosis of Alzheimer's disease: biomarkers of the cerebrospinal fluid, neuroimaging and neuropsychological testing. Neuropsychological testing already shows deficits, even when neuroimaging findings still seem to be normal. Therapy of MCI is basically like the treatment of Alzheimer's disease: symptomatic treatment with cholinesterase-inhibitors or antioxidants, and compensatory psychological approaches.

Bulging medial edge epithelial cells and palatal fusion.

The surface of the medial edge epithelium of embryonic day 12, 13 and 14 mouse palatal shelves was observed utilising Environmental Scanning Electron Microscopy (ESEM). This technique offers the advantage of visualisation of biological samples after short fixation times in their natural hydrated state. Bulging epithelial cells were observed consistently on the medial edge epithelium prior to palatal shelf fusion. Additionally, we have used ESEM to compare the morphology and surface features of palatal shelves from embryonic day 13 to 16 mouse embryos that are homozygous null (TGF-beta3 -/-), heterozygous (TGF-beta3 +/-) or homozygous normal (TGF-beta3 +/+) for transforming growth factor beta-3 (TGF-beta3). At embryonic day 15 and 16 most TGF-beta3 +/- and +/+ embryos showed total palatal fusion, whilst all TGF-beta3 null mutants had cleft palate: the middle third of the palatal shelves had adhered, leaving an anterior and posterior cleft. From embryonic day 14 to 16 abundant cells were observed bulging on the medial edge epithelial surface of palates from the TGF-beta3 +/- and +/+ embryos. However, they were never seen in the TGF-beta3 null embryos, suggesting that these surface bulges might be important in palatal fusion and that their normal differentiation is induced by TGF-beta3. The expression pattern of E-Cadherin, beta-catenin, chondroitin sulphate proteoglycan, beta-Actin and vinculin as assayed by immunocytochemistry in these cells shows specific variations that suggest their importance in palatal shelf adhesion.

Influence of thrombolysis on signal-averaged electrocardiogram and late arrhythmic events after acute myocardial infarction.

The influence of intravenous thrombolysis on both prevalence of ventricular late potentials and incidence of late arrhythmic events was evaluated in 174 consecutive patients surviving a first acute myocardial infarction; 106 patients (61%) received thrombolysis (group A) and 68 (34%) had conventional therapy (group B). In group A, 18 patients (17%) had late potentials compared with 23 (34%) in group B (p less than 0.05); mean left ventricular ejection fraction was not different (0.50 +/- 0.09 vs 0.50 +/- 0.10; p = not significant [NS]). Of 63 patients who underwent coronary arteriography because of postinfarction ischemia, 28 (44%) had a closed infarct-related artery; of these, 11 (39%) had late potentials compared with 3 of 35 (9%) with a patent artery (p less than 0.01). Mean left ventricular ejection fraction was not significantly different between the 2 groups (0.49 +/- 0.09 vs 0.53 +/- 0.09; p = NS). At a mean follow-up of 14 +/- 8 months, 8 of 161 patients (5%) had a late arrhythmic event; 6 of 8 (75%) with and 28 of 153 (18%) without events had late potentials (p less than 0.001). In group A, 4 of 99 patients (4%) had events compared with 4 of 62 (6%) in group B (p = NS, relative risk 1.6). Of 24 patients with anterior wall AMI and left ventricular dyskinesia, 6 events occurred. In this group of patients, a higher rate of events was observed (25%); 3 of 16 (19%) treated with thrombolysis had an event compared with 3 of 8 (37%) treated conventionally (p = NS, relative risk 2.6).(ABSTRACT TRUNCATED AT 250 WORDS)

Autonomic nervous function assessment using thermal reactivity of microcirculation.

There are only a few reliable objective methods of diagnosing peripheral neuronal damage suitable for routine use; the most important is based on measurement of nerve conduction velocity, which only shows changes when severe disturbances are already present. However, it is precisely at this stage that the possibilities of therapy are no longer satisfactory. As small fibres are affected earlier in the course of most forms of PNP than the large ones, assessment of afferent as well as efferent C-fibre function gains importance in the management of this widespread disease. In assessment of autonomic dysfunction, variability of the heartbeat with deep breathing or the Valsalva manoeuvre is a good and generally accepted test, although not strongly associated with other PNP test abnormalities. However, axonal degeneration starts in the most distal parts of the axon due to impaired axonal transport. Therefore, the longest C-fibres, i.e. in the lower extremities, are affected first, and incipient changes are most prominent there. For this reason HLDF, a reflex response of the skin blood flow stimulated by heat, has advantages in assessment of early C-fibre dysfunction. Considering the fact that the afferent and efferent sympathetic C-fibres are involved in regulation of microcirculation, the skin blood flow regulation is investigated by means of laser Doppler flowmetry. The microcirculation is stimulated by heat and the reaction of microcirculation is assessed as a value for the function of afferent and efferent (sympathetic) C-fibres. The results of this method are in close correlation with electrophysiologic tests, which is not achieved with sudomotor function.

Thyrotropin and thyroglobulin as an index of optimal iodine intake: correlation with iodine excretion of 39,913 euthyroid patients.

The recommendations for the dietary allowance of iodine are 150 micrograms per day for adolescents and adults. Thyrotropin (TSH) and thyroglobulin (Tg) can be used as surveillance indicators for assessing iodine deficiency disorders. We compared the relation between TSH and Tg, free triiodothyronine, and thyroxine serum levels with urinary iodine excretion in 2311 untreated euthyroid patients using our modified cericarsenite method. An adequate iodine intake may be assumed when TSH and Tg values are at the lower end of the normal range. Patients were grouped according to urinary iodine excretion and goiter size. In the group with an iodine excretion between 201 and 300 micrograms of iodine per gram of creatinine, the lowest TSH values and even low Tg levels could be shown. We conclude that an iodine intake of approximately 250 micrograms/day is associated with the lowest TSH stimulation to thyrocytes. In the groups separated according to thyroid size, significantly higher Tg levels were found in the patients with uninodular and multinodular goiter as a result of longstanding iodine deficiency, whereas actual urinary iodine excretion did not differ significantly. Additionally, iodine excretion of 39,913 euthyroid patients between 1984 was 1996 was examined. In Austria iodized salt (10 mg KI/kg) was introduced by law in 1963 and increased to 20 mg KI/kg salt in 1990. An initial increase of iodine excretion until 1993 was followed by a decrease in 1994 and 1995 without further changes in 1996. These results show that iodine intake has improved since 1984; however, in 1996 iodine excretion in one-third of the investigated patients was under 100 micrograms per gram of creatinine and more than 80% had less than 200 micrograms per gram of creatinine.

High-dose olanzapine in Huntington's disease.

The few reports available on olanzapine in Huntington's disease (HD) are insufficiently documented and/or insufficiently dosed. We describe a 30-year-old woman with genetically confirmed HD who presented with severe chorea. She was not able to eat or dress without help and did not respond to haloperidol; the motor scale of the Unified HD Rating Scale (UHDRS-I) revealed 65 of a possible 124 points. After admission, we treated the patient with a high dose of olanzapine (30 mg daily). The chorea almost ceased in the next 2 days, she was able to eat and walk without assistance (UHDRS-I of 21 points), and fine motor tasks improved, as well as gait and eye movements. This effect lasted for 5 months. We conclude that high-dose olanzapine appears to be useful in grave choreatic attacks.

Microbiological quality of reconstituted enteral formulations used in hospitals.

Contamination of enteral feeds may occur during preparation, storage, decanting, and administration to patients. The aim of this study was to investigate the microbiological quality of reconstituted enteral feeds, residual feeds from feed delivery systems, and the water used to reconstitute powdered feeds in hospital. Hazard Analysis Critical Control Points (HACCP) system was implemented to control microbiological contamination of the enteral feeding formulations. Before the implementation of the HACCP system microbiological analyses of feeds showed the presence of indicator organisms such as coliforms and Enterococcus spp. and unacceptably high levels of mesophilic aerobic microorganisms (>10(4) cfu/mL). After the implementation of the HACCP, the microbial quality of the feeds improved significantly, with counts of <10(1) cfu/mL. Blenders used in reconstituting feeds were found to be the main source of bacterial contamination.

Normal striatal D2 receptor binding in idiopathic restless legs syndrome with periodic leg movements in sleep.

Dopaminergic treatment is very effective in restless legs syndrome (RLS) and periodic leg movements in sleep (PLMS). However, neuroreceptor imaging studies that addressed altered striatal dopaminergic function have given controversial results. In this present study, 14 patients with idiopathic RLS (iRLS) and PLMS with a good response to dopaminergic and non-dopaminergic treatment and ten healthy sex- and age-matched controls were investigated off-medication by using 123I-IBZM and SPECT. RLS symptoms and sleep disturbances were evaluated using three nights of polysomnography, the Pittsburgh Sleep Quality Index, and the International RLS Study Group (IRLSSG) rating scale. The patients presented with sleep disturbances, a high PLMS index (56.2 +/- 33.1 per h), and severe RLS symptoms during SPECT (IRLSSG rating scale 23.1 +/- 8.0), and showed no significant differences in striatal to frontal IBZM binding to D2 receptors compared to controls (ratio striatum/frontal cortex, right side 1.60 +/- 0.10 vs 1.63 +/- 0.08, P = 0.35, NS; left side 1.61 +/- 0.11 vs 1.63 +/- 0.08, P = 0.51, NS). These findings show normal function of striatal D2 receptors in successfully treated patients with iRLS and PLMS. Dopaminergic and non-dopaminergic pretreatment does not appear to change striatal D2 receptor binding as compared to healthy controls. Structures other than striatal D2 receptors are discussed as possible causes of the treatment effects in RLS.

Compactotomy in Huntington's chorea.

Advances in neuroradiological and neurosurgical techniques have lead to a growing interest in functional neurosurgical interventions for medically intractable movement disorders. The majority of these procedures are performed in patients with hypokinetic movement disorders, especially Parkinson's disease. However, relatively few interventions were done in hyperkinetic disorders such as Huntington's disease (HD), mainly owing to the lack of an adequate target nucleus. We have recently described the case of a reversible chorea in a genetically confirmed HD patient. We subsequently identified a marked bilateral degeneration of the substantia nigra as the probable reason for choreatic cessation. We therefore suggest that primary striatal atrophy causing hyperkinesia and secondary substantia nigra atrophy favouring hypokinesia were balanced in this patient, thus resulting in a close-to-physiologic GABAergic basal ganglia output. We postulate that deep brain stimulation of the substantia nigra pars compacta may ameliorate hyperkinesia in choreatic movement disorders, thus representing the first effective therapy in Huntington's chorea. Several lines of evidence in recent neurophysiological research support our hypothesis and are discussed below.

Evaluation of big endothelin-1 concentrations in serum and ventricular cerebrospinal fluid after early surgical compared with nonsurgical management of ruptured intracranial aneurysms.

OBJECT: Whereas the removal of subarachnoid blood is possible during early-stage aneurysm surgery, this cannot be achieved in aneurysms treated by endovascular means. The levels of potential spasmogens in the cerebrospinal fluid (CSF) in patients receiving endovascular treatment might therefore be higher, with the potential for more severe post-subarachnoid hemorrhage (SAH) vasospasm. METHODS: Serum and CSF concentrations of big endothelin (ET)-1 were serially measured in patients with SAH receiving one of the following treatments: 1) early (within 72 hours of SAH) aneurysm surgical treatment (15 patients), 2) early endovascular treatment (17 patients), or 3) no intervention in the acute phase (12 patients). In patients suffering delayed infarctions higher levels of big ET-1 CSF were demonstrated than in those without infarctions (p = 0.01). In patients in whom surgery was performed in the acute phase lower big ET-1 CSF concentrations were demonstrated than in those who received embolization treatment or no treatment (p = 0.02). Subgroup analysis demonstrated that in patients receiving early endovascular treatment, higher big ET-1 CSF concentrations were revealed than in those undergoing early aneurysm surgery; this was true for patients with (microsurgerytreated, 1.84 +/- 0.83 pg/ml; and embolization-treated 2.19 +/- 0.54 pg/ml) and without (microsurgery-treated 1.76 +/- 0.61 pg/ml; and embolization-treated 2.01 +/- 0.48 pg/ml) delayed infarctions. CONCLUSIONS: Among patients with SAH who received treatment during the acute phase, those undergoing early aneurysm surgery were shown to have lower big ET-1 CSF levels than those receiving embolization and no treatment (that is, the nonsurgical treatment groups). The clinical significance of this finding remains to be established in future clinical trials, because in the present study the trend toward lower levels of big ET-1 CSF in the microsurgically treated group was not paralleled by a lower delayed stroke rate or an improvement in neurological outcome.

Late arrhythmic events and patency of the infarct-related coronary artery in survivors of acute myocardial infarction.

In the present study we evaluated the influence of intravenous thrombolysis and patency of the infarct-related coronary artery on both markers of ventricular electrical instability and incidence of late arrhythmic events after acute myocardial infarction (AMI). Ninety one patients surviving a first AMI who consecutively performed coronary angiography were enrolled in the present study; 44 patients (48%) received thrombolysis, 47 patients (52%) were treated conventionally. Of 91 patients, 90 (99%) had signal-averaged electrocardiogram (SAECG), and 40 (44%) programmed ventricular stimulation. No significant difference was observed between thrombolytic-treated and control group in late potential rate, SAECG determinants and ventricular arrhythmia inducibility. Of 91 patients, 40 (44%) had occlusion of the infarct-related artery: of these, 15 (37%) had late potentials compared with 5 of 51 patients (9%) with a patent artery (p < 0.01). Mean left ventricular ejection fraction was not significantly different between the two groups (0.50 +/- 0.15 vs 0.55 +/- 0.12; p = NS). No significant difference was present between the two groups of patients with regard to inducibility of sustained ventricular tachyarrhythmias, however an odds ratio of 3.5 was observed in the group with a closed vessel.(ABSTRACT TRUNCATED AT 250 WORDS)

Central and peripheral haemodynamic determinants of effort tolerance in patients with heart failure.

We studied central and peripheral hemodynamics and exercise tolerance in 24 patients with left ventricular dysfunction. All were in NYHA class II or III, and echocardiographic left ventricular ejection fraction was < 35% without pharmacologic influences. Patients underwent to treadmill test (Naughton protocol), cardiopulmonary upright bicycle test, and supine bicycle test with haemodynamic measurements. All tests were exhaustive. Average exercise time was 9 +/- 3.4 min, (range 3-20). Average ejection fraction (.28 +/- 0.65) dis not correlate with working capacity (r = .32), nor did left ventricular filling pressure (pulmonary capillary wedge pressure) at rest and at peak exercise (r = .29 and r = .02). Stroke volume and stroke volume index were on average depressed, with no variations during work; cardiac output and cardiac index were also depressed, with a significant increase at peak exercise (both p < .001). Systemic and pulmonary resistances were increased, but systemic resistances tended to decrease during effort (p < .001), while pulmonary resistances did not (p = NS). We subdivided patients according to systemic vascular resistances lower or higher than 1500 dynes.cm.sec-5 at rest; this identifies two different working capacities (low systemic vascular resistances 11.7 +/- 4.4 min, high systemic vascular resistances 6.9 +/- 3.2 min, p < .05). Patients were then divided in two groups: group I (rest stroke volume > 60 ml) and group II (rest stroke volume < 60 ml). Group I worked 11 +/- 5 min, group II 8.5 +/- 3 min (p < .05). We performed a linear regression analysis between cardiac output and systemic vascular resistances at rest and during exercise in the two groups.(ABSTRACT TRUNCATED AT 250 WORDS)