[Mobile Stoke Unit : Changes in the concept of stroke care over time]. / Mobile Stroke Unit (MSU) : Schlaganfall-Versorgungskonzept im Wandel der Zeit.

BACKGROUND: Stroke continues to be a major cause of death and one of the most frequent reasons for permanent disability and dependence on caregiving at an adult age, whereby ischemic stroke is regarded as a medical condition that can be treated. One of the main reasons why patients with acute stroke are not given causal or evidence-based treatment is the delay in reaching a treatment-specialized team at a suitable clinic. After the dawning of the age of neurothrombectomy, various management concepts have been established to transfer the patient to a center with the appropriate level of treatment as quickly as possible (time is brain). METHODS: The Mobile Stroke Unit (MSU) is an ambulance that contains all the equipment required to clarify the cause of a stroke and thus enables treatment and triage decision-making at the scene of the emergency. RESULTS: Due to prehospital implementation of the "need-for-speed" notion, the MSU assumes a special role. Present data indicate a benefit with regard to a shortening of time to thrombolysis and an increase in treatment rates within the first (golden) hour. In addition, it is possible to make a diagnosis-based triage decision regarding a hospital with or without an endovascular treatment option. CONCLUSIONS: The MSU allows swifter treatment and a diagnosis-based triage decision at the scene of the emergency. It is now important to continue evaluating the clinical and socioeconomic benefit of these, at first glance expensive, preclinical tools and also continue analyzing special regional aspects as well as the pros and cons of the concepts. The recently established Prehospital Stroke Treatment Organization (PRESTO) represents a promising approach.

Mobile stroke unit use for prehospital stroke treatment-an update.

BACKGROUND: Acute ischemic stroke is a treatable disease. Moreover, there is increasing evidence supporting mechanical recanalization for large-vessel occlusion, even beyond a strict time window. However, only small numbers of patients receive causal treatment. METHODS: One of the main reasons that patients do not receive causal therapy is their late arrival at the correct target hospital, which, depending on the type of stroke, is either a regional stroke unit or a comprehensive stroke center for interventional treatment. In order to triage patients correctly, a fast and complex diagnostic work-up is necessary, allowing a stroke specialist to decide on the best therapy option. As treatment possibilities become more comprehensive with the need for individualized decisions, the gap between treatment options and practical implementation is increasing. RESULTS: The "mobile stroke unit" concept encompasses the administration of prehospital acute stroke diagnostic work-up, therapy initiation, and triage to the correct hospital using a specially equipped ambulance, staffed with a team specialized in stroke. The concept, which was conceived and first put into practice in Homburg/Saar, Germany, in 2008, is currently spreading with more than 20 active mobile stroke unit centers worldwide. The use of mobile stroke units can reduce the time until stroke treatment by 50% with a tenfold increase of patients treated within the first 60 min of symptom onset. CONCLUSION: The mobile stroke unit concept for acute stroke prehospital management is spreading worldwide. Intensive research is still needed to analyze the best setting for prehospital stroke management.

German translation and content validation of the OSTRC Questionnaire on overuse injuries and health problems.

OBJECTIVE: The aim of this study was to translate, culturally adapt and validate the Oslo Sports Trauma Research Centre (OSTRC) Questionnaire on Health Problems into the German context. METHODS: A slightly modified back-translation method was used to translate the questionnaire. Validation was done in 24 high-level Paralympic athletes followed over 20 consecutive weeks. RESULTS: The translated version of the questionnaire showed a very high internal consistency and good test-retest reliability (Cronbach's α 0.92, intraclass correlation coefficient 0.91). Additionally, we observed high acceptance and compliance from our cohort of athletes, whose mean weekly response rate was 91.5%. Overall, 114 training days were lost because of illness or injury within the 20 weeks and, on average, 5 athletes per week (20.8%) reported health problems. CONCLUSIONS: This study demonstrates that the translated German version of the OSTRC Questionnaire is a reliable and valid tool with high internal consistency for the medical monitoring of German athletes. The OSTRC-G now offers the opportunity for a continued surveillance of high-level German athletes.

[Requirements of neurologists for autopsies]. / Anforderungen des Neurologen an Obduktionen.

BACKGROUND: In assuring the quality of the healthcare system, it is the intention of healthcare politics to raise the number of clinical autopsies. OBJECTIVE: What are the requirements of clinical neurologists for neuroautopsies and how can the post-mortem examiner cope with these requests? METHODS: Discussion on how the questions that arise with the most relevant neurological disease groups can be solved by post-mortem examination. RESULTS: The diagnostics of inflammatory, inflammatory demyelinating and demyelinating brain diseases, neurodegenerative diseases and neuromuscular diseases as well as central nervous system tumors necessitate the removal of specific brain regions, specific examination techniques, immunohistochemical investigations or specific samples taken for biochemical, molecular pathological or genetic investigations according to international published consensus criteria. It is the first priority in post-mortem examinations to use all possible options and appraisals to identify patients with the aforementioned neurological diseases or suspected diseases early enough during the autopsy process that the tissue sampling, necessary for diagnosing the assumed diseases, will take place. CONCLUSION: Demands made on neuropathological investigations have increased tremendously, because of rapid progress in understanding chronic neurological diseases and the requirements of consensus criteria. To cope with expectations on neuropathological post-mortem investigations, a close collaboration should be established between clinical neurologists, post-mortem examiners and neuropathologists.

[Mobile stroke unit for prehospital stroke treatment]. / Mobile Stroke Unit zur prähospitalen Schlaganfalltherapie.

CLINICAL ISSUE AND DIAGNOSTIC STANDARDS: The management of acute stroke patients suffers from several major problems in the daily clinical routine. In order to achieve optimal treatment a complex diagnostic work-up and rapid initiation of therapy are necessary; however, most patients arrive at hospital too late for any type of acute stroke treatment, although all forms of treatment are highly time-dependent according to the generally accepted "time is brain" concept. DIAGNOSTIC INNOVATIONS: Recently, two randomized clinical trials demonstrated the feasibility of prehospital stroke diagnostic work-up and treatment. This was accomplished by use of a specialized ambulance, equipped with computed tomography for multimodal imaging and a point-of-care laboratory system. PERFORMANCE: In both trials the results demonstrated a clear superiority of the prehospital treatment group with a significant reduction of treatment times, significantly increased number of patients treated within the first 60 min after symptom onset and an optimized triage to the correct target hospital. ACHIEVEMENTS AND PRACTICAL RECOMMENDATIONS: Currently, mobile stroke units are in operation in various countries and should lead to an improvement in stroke treatment; nevertheless, intensive research is still needed to analyze the best framework settings for prehospital stroke management.

[The Homburg clinic for nervous diseases in the National Socialist Era. Special features in the Saarland border region]. / Die Homburger Nervenklinik im Nationalsozialismus. Besonderheiten in der saarländischen Grenzregion.

BACKGROUND AND OBJECTIVES: When the National Socialists (NS) came to power in 1933, the German health care system was reorganized according to the principles of eugenics. Neuropsychiatric patients were victims of compulsory sterilisation and "euthanasia". As the Saar territory did not become part of the German Reich until the 1 March 1935, it is of special interest how quickly and completely NS health care policies were implemented. METHODS: The analysis is based on medical records of the Homburg State Hospital's (HSH) clinic for nervous diseases from 1929 to 1945 (n =7,816) found in the Saarland University Medical Centre. RESULTS: 1,452 patients were sterilised by force between 1935 and 1939 in the HSH. The most frequent diagnoses were congenital debility, schizophrenia, and epilepsy. Some of the 441 Homburg patients who were transferred to other mental hospitals from 1939 to 1940 were killed in the context of "Aktion T4" and presumably in a nonsystematic manner. CONCLUSIONS: NS health care policies were implemented immediately after incorporation of the Saar territory in 1935. Physicians of the HSH were involved directly in compulsory sterilisation of neuropsychiatric patients. An initial intention to kill by the time of patient transfers from Homburg cannot be proven. Further research concerning the killing centres is necessary.

Temporal association between home nursing and hospital costs at end of life in three provinces.

BACKGROUND: Research has demonstrated that increases in palliative homecare nursing are associated with a reduction in the rate of subsequent hospitalizations. However, little evidence is available about the cost-savings potential of palliative nursing when accounting for both increased nursing costs and potentially reduced hospital costs. METHODS: Our retrospective cohort study included cancer decedents from British Columbia, Ontario, and Nova Scotia who received any palliative nursing in the last 6 months of life. A Poisson regression analysis was used to determine the association of increased nursing costs (in 2-week blocks) on the relative average hospital costs in the subsequent 2-week block and on the overall total cost (hospital costs plus nursing costs in the preceding 2-week block). RESULTS: The cohort included 58,022 cancer decedents. Results of the analysis for the last month of life showed an association between increased nursing costs and decreased relative hospital costs in comparisons with a reference group (>0 to 1 hour nursing in the block): the maximum decrease was 55% for Ontario, 31% for British Columbia, and 38% for Nova Scotia. Also, increased nursing costs in the last month were almost always associated with lower total costs in comparison with the reference. For example, cost savings per person-block ranged from $376 (>10 nursing hours) to $1,124 (>4 to 6 nursing hours) in British Columbia. CONCLUSIONS: In the last month of life, increased palliative nursing costs (compared with costs for >0 to 1 hour of nursing in the block) were associated with lower relative hospital costs and a lower total cost in a subsequent block. Our research suggests a cost-savings potential associated with increased community-based palliative nursing.

Advance care planning: identifying system-specific barriers and facilitators.

BACKGROUND: Advance care planning (acp) is an important process in health care today. How to prospectively identify potential local barriers and facilitators to uptake of acp across a complex, multi-sector, publicly funded health care system and how to develop specific mitigating strategies have not been well characterized. METHODS: We surveyed a convenience sample of clinical and administrative health care opinion leaders across the province of Alberta to characterize system-specific barriers and facilitators to uptake of acp. The survey was based on published literature about the barriers to and facilitators of acp and on the Michie Theoretical Domains Framework. RESULTS: Of 88 surveys, 51 (58%) were returned. The survey identified system-specific barriers that could challenge uptake of acp. The factors were categorized into four main domains. Three examples of individual system-specific barriers were "insufficient public engagement and misunderstanding," "conflict among different provincial health service initiatives," and "lack of infrastructure." Local system-specific barriers and facilitators were subsequently explored through a semi-structured informal discussion group involving key informants. The group identified approaches to mitigate specific barriers. CONCLUSIONS: Uptake of acp is a priority for many health care systems, but bringing about change in multi-sector health care systems is complex. Identifying system-specific barriers and facilitators to the uptake of innovation are important elements of successful knowledge translation. We developed and successfully used a simple and inexpensive process to identify local system-specific barriers and enablers to uptake of acp, and to identify specific mitigating strategies.

Quality of end-of-life cancer care in Canada: a retrospective four-province study using administrative health care data.

BACKGROUND: The quality of data comparing care at the end of life (eol) in cancer patients across Canada is poor. This project used identical cohorts and definitions to evaluate quality indicators for eol care in British Columbia, Alberta, Ontario, and Nova Scotia. METHODS: This retrospective cohort study of cancer decedents during fiscal years 2004-2009 used administrative health care data to examine health service quality indicators commonly used and previously identified as important to quality eol care: emergency department use, hospitalizations, intensive care unit admissions, chemotherapy, physician house calls, and home care visits near the eol, as well as death in hospital. Crude and standardized rates were calculated. In each province, two separate multivariable logistic regression models examined factors associated with receiving aggressive or supportive care. RESULTS: Overall, among the identified 200,285 cancer patients who died of their disease, 54% died in a hospital, with British Columbia having the lowest standardized rate of such deaths (50.2%). Emergency department use at eol ranged from 30.7% in Nova Scotia to 47.9% in Ontario. Of all patients, 8.7% received aggressive care (similar across all provinces), and 46.3% received supportive care (range: 41.2% in Nova Scotia to 61.8% in British Columbia). Lower neighbourhood income was consistently associated with a decreased likelihood of supportive care receipt. INTERPRETATION: We successfully used administrative health care data from four Canadian provinces to create identical cohorts with commonly defined indicators. This work is an important step toward maturing the field of eol care in Canada. Future work in this arena would be facilitated by national-level data-sharing arrangements.

Nicotinic α4ß2 acetylcholine receptors and cognitive function in Parkinson's disease.

BACKGROUND: Idiopathic Parkinson's disease (IPD) is characterized by the clinical motor symptoms of hypokinesia, rigidity, and tremor. Apart from these motor symptoms, cognitive deficits often occur in IPD. The positive effect of cholinesterase inhibitors on cognitive deficits in IPD and findings of earlier molecular imaging studies suggest that the cholinergic system plays an important role in the origin of cognitive decline in IPD. METHODS: Twenty-five non-demented patients with IPD underwent a 5-[123I]iodo-3-[2(S)-2-azetidinylmethoxy]pyridine (5-I-A-85380) SPECT to visualize α4ß2 nicotinic acetylcholine receptors (nAchR) and cognitive testing with the CERAD (Consortium to Establish a Registry for Alzheimer's Disease) battery to identify domains of cognitive dysfunction. RESULTS: In the CERAD, the IPD patients exhibited deficits in non-verbal memory, attention, psychomotor velocity, visuoconstructive ability, and executive functions. After Bonferroni correction for multiple comparisons, we found significant correlations between performance of the CERAD subtests Boston Naming Test (a specific test for visual perception and for detection of word-finding difficulties) and Word List Intrusions (a specific test for learning capacity and memory for language information) vs binding of α4ß2 nAchR in cortical (the right superior parietal lobule) and subcortical areas (the left thalamus, the left posterior subcortical region, and the right posterior subcortical region). CONCLUSIONS: These significant correlations between the results of the CERAD subtests and the cerebral α4ß2 nAchR density, as assessed by 5-I-A-85380 SPECT, indicate that cerebral cholinergic pathways are relevant to cognitive processing in IPD.

[Guidelines on "pharmacotherapy of neurodegenerative dementia": an update]. / Leitlinien zur "Pharmakotherapie neurodegenerativer Demenzen" : Ein Update.

This article presents the evidence-based pharmacotherapeutic options for the most common forms of neurodegenerative dementia. The aim is to present the recommendations derived from the relevant studies on the neurological, psychiatric and geriatric practice of treatment for dementia patients. The text is derived from the 2009 guidelines of the German Society of Neurology (DGN, lead management: K. Fassbinder), the S3 guidelines of the DGN/German Association for Psychiatry, Psychotherapy and Psychosomatics (DGPPN, lead management: G. Deuschl and W. Maier) and the latest amendments of the European Federation of Neurological Societies/European Society of Neurology (EFNS-ENS, Sorbi et al. Eur J Neurol 19:1159-1179, 2012) guidelines. The forms of neurodegenerative dementia addressed are Alzheimer's disease, frontotemporal dementia and Lewy body dementia. Specific statements on the treatment of dementia in Parkinson's disease and vascular dementia can be found in separate guidelines. An analogous article on psychosocial interventions was recently published in Der Nervenarzt (Kurz, Nervenarzt 84:93-103, 2013).

["Time is brain". Optimizing prehospital stroke management]. / "Zeit ist Hirn". Optimierung des prähospitalen Schlaganfallmanagements.

Acute stroke is one of the main causes of death and chronic disability. Thrombolysis, achieved by administering recombinant tissue plasminogen activator within 4.5 h, is an effective therapeutic option for ischemic stroke. However, less than 2-12 % of patients receive this treatment and a major reason is that most patients reach the hospital too late. Several time-saving measures should be implemented. Firstly, optimized and continual public awareness campaigns for patients should be initiated to reduce delays in notifying the emergency medical service. Secondly, emergency medical service personnel should develop protocols for prenotification of the receiving hospital. Other suggested measures involve educating emergency medical service personnel to systematically use scales for recognizing the symptoms of stroke and to triage patients to experienced stroke centers. In the future, administering treatment at the emergency site (mobile stroke unit concept) may allow more than a small minority of patients to benefit from available recanalization treatment options.

The PRIPS study: screening battery for subjects at risk for Parkinson's disease.

BACKGROUND AND PURPOSE: Screening batteries to narrow down a target-at-risk population are essential for trials testing neuroprotective compounds aiming to delay or prevent onset of Parkinson's disease (PD). METHODS: The PRIPS study focuses on early detection of incident PD in 1847 at baseline PD-free subjects, and assessed age, male gender, positive family history, hyposmia, subtle motor impairment and enlarged substantia nigra hyperechogenicity (SN+). RESULTS: After 3 years follow-up 11 subjects had developed PD. In this analysis of the secondary outcome parameters, sensitivity and specificity of baseline markers for incident PD were calculated in 1352 subjects with complete datasets (10 PD patients). The best approach for prediction of incident PD comprised three steps: (i) prescreening for age, (ii) primary screening for positive family history and/or hyposmia, and (iii) secondary screening for SN+. CONCLUSION: With this approach, one out of 16 positively screened participants developed PD compared to one out of 135 in the original cohort. This corresponds to a sensitivity of 80.0%, a specificity of 90.6% and a positive predictive value of 6.1%. These values are higher than for any single screening instrument but still too low for a feasible and cost-effective screening strategy which might require longer follow-up intervals and application of additional instruments.

[First occurrence of an organic manic schizophreniform syndrome followed by catatonia induced by anti-NMDA-receptor encephalitis]. / Erstmanifestation eines organischen manisch-schizophreniformen Syndroms mit nachfolgender Katatonie bei NMDA-Rezeptor-Antikörper-positiver Encephalitis.

We report on a 39-year-old female patient who developed catatonia after there had been schizomanic symptoms in the six months before. At admission the patient exhibited catatonia, a tetraspastic syndrome and focal epileptic seizures. The cranial MRI revealed bilateral subcortical hyperintense lesions which took up contrast agent. Examination of the cerebrospinal fluid disclosed a lymphocytic pleocytosis and autochthone oligoclonal bands. In the serum autoantibodies against the NMDA-NR-1 receptor were reproducibly detected. A detailed search for a tumour was negative. In detail, we could exclude a neoplasm of the ovaries which is often present in the paraneoplastic type of anti-NMDA-receptor encephalitis. Therefore we assume an autoimmune, not paraneoplastic, encephalitis in our patient. The symptoms improved significantly after an immunosuppressive therapy - initially with glucocorticoids followed by rituximab - had been initiated. This case illustrates that an autoimmune encephalitis should be looked for when first psychotic symptoms occur.

Sarcopenia is associated with postoperative infection and delayed recovery from colorectal cancer resection surgery.

BACKGROUND: Skeletal muscle depletion (sarcopenia) predicts morbidity and mortality in the elderly and cancer patients. METHODS: We tested whether sarcopenia predicts primary colorectal cancer resection outcomes in stage II-IV patients (n=234). Sarcopenia was assessed using preoperative computed tomography images. Administrative hospitalisation data encompassing the index surgical admission, direct transfers for inpatient rehabilitation care and hospital re-admissions within 30 days was searched for International Classification of Disease (ICD)-10 codes for postoperative infections and inpatient rehabilitation care and used to calculate length of stay (LOS). RESULTS: Overall, 38.9% were sarcopenic; 16.7% had an infection and 9.0% had inpatient rehabilitation care. Length of stay was longer for sarcopenic patients overall (15.9 ± 14.2 days vs 12.3 ± 9.8 days, P=0.038) and especially in those ≥ 65 years (20.2 ± 16.9 days vs 13.1 ± 8.3 days, P=0.008). Infection risk was greater for sarcopenic patients overall (23.7% vs 12.5%; P=0.025), and especially those ≥ 65 years (29.6% vs 8.8%, P=0.005). Most (90%) inpatient rehabilitation care was in patients ≥ 65 years. Inpatient rehabilitation was more common in sarcopenic patients overall (14.3% vs 5.6%; P=0.024) and those ≥ 65 years (24.1% vs 10.7%, P=0.06). In a multivariate model in patients ≥ 65 years, sarcopenia was an independent predictor of both infection (odds ratio (OR) 4.6, (95% confidence interval (CI) 1.5, 13.9) P<0.01) and rehabilitation care (OR 3.1 (95% CI 1.04, 9.4) P<0.04). CONCLUSION: Sarcopenia predicts postoperative infections, inpatient rehabilitation care and consequently a longer LOS.

Comparison of stent free cell area and cerebral lesions after unprotected carotid artery stent placement.

OBJECTIVE: This study evaluates the correlation between closed, semi-closed and open-cell stent design and the association between stent type and clinical outcome as well as magnetic resonance imaging (MRI) findings. DESIGN: A total of 194 patients who underwent unprotected carotid artery stenting (CAS) as well as diffusion-weighted magnetic resonance imaging (DW-MRI) before and after intervention were retrospectively reviewed. MATERIALS AND METHODS: Three stent designs were studied: closed cell, semi-closed cell and open cell. Spearman's Rho test was performed between the stent free cell area and the number and area of ischaemic lesions found after intervention. Adverse events were evaluated. RESULTS: There was no significant difference in clinical outcome between the three stent groups (Zilver, Cook Europe, Denmark; Smart, Codman, MA; and Wallstent, Stryker, MN, USA). A significant correlation was found between the stent free cell area and the number and area of new ischaemic lesions on DW-MRI (P = 0.023). There were significantly fewer new lesions with an open-cell design (Zilver; 12.76 mm(2) free cell area) than with a closed-cell design (Wallstent; 1.08 mm(2) free cell area). CONCLUSIONS: Open-cell stent was related to a lower number and area of silent cerebral ischaemic lesions after unprotected CAS. However, clinical outcome, measured by incidence of adverse events and clinical neurologic assessment, was not significantly different between patients with different stent designs.

Simple measurement of aneurysm residual after treatment: the SMART scale for evaluation of intracranial aneurysms treated with flow diverters.

BACKGROUND: Primary endovascular reconstruction with flow diversion represents a fundamental paradigm shift in the technique of endovascular aneurysm treatment. Unlike coil embolization, often there remains residual post-procedural filling within the aneurysm with flow diverters, the curative reconstruction presumably occurring over a period of weeks. Thus, conventional grading scales for post-procedural aneurysm occlusion and recanalization are inadequate. The aim of this paper is to propose a new angiographic grading scale that addresses this fundamentally new treatment option. METHOD: A five-point grading scale describes the location of residual flow within the aneurysm in the venous phase [grade 1: patent aneurysm with diffuse inflow; grade 2: residual filling of the aneurysm dome (saccular) or wall (fusiform); grade 3: only residual neck (saccular) or only intra-aneurysmal filling with former boundaries covered (fusiform); grade 4: complete occlusion]. FINDINGS: Grade 0 represents any aneurysm, regardless of occlusion rate with early phase, coherent inflow jet. Intra-aneurysmal flow stagnation is categorized into: (a) none, (b) capillary phase, and (c) venous phase. Prevailing parent vessel hemodynamics with in-stent stenosis (ISS) are divided into none (ISS0), mild (ISS1), moderate (ISS2), severe (ISS3), and total (ISS4) occlusion. The proposed grading scales allow assessment of the hemodynamic consequences of stent placement on endosaccular in-flow, stasis, and location of stasis as well as parent vessel hemodynamics. CONCLUSIONS: Further studies need to show the applicability and possible predictive value of this new grading scale on the efficacy of the stent in promoting intra-aneurysmal flow stagnation, thus creating the potential to harmonize the results of future papers. This may help to optimize treatment and future device design.

Granulocyte colony-stimulating factor for hepatitis C therapy-associated neutropenia: systematic review and economic evaluation.

Hepatitis C virus (HCV) treatment requires maximal adherence to pegylated interferon (Peg-IFN) and ribavirin to achieve a sustained virologic response (SVR). Neutropenia is the most common cause for Peg-IFN dose reduction. Our objectives were to evaluate the effectiveness, safety and cost-effectiveness of granulocyte colony-stimulating factor (G-CSF) versus Peg-IFN dose reduction for HCV therapy-associated neutropenia in treatment naïve adults. We conducted a systematic review to identify controlled trials and observational studies. Study selection, quality assessment and data extraction were completed independently by two investigators. Cost-effectiveness and cost-utility analyses compared G-CSF with dose reduction. Nineteen studies were included. In one trial, the SVR for those receiving G-CSF was 54.5% (95% CI: 34.7-73.1) compared with 26.3% (95% CI: 11.8-48.8) for dose reduction. The remaining studies were case series or retrospective cohorts and provided weak evidence for the relationship between SVR and G-CSF. The risk of adverse events, including infection, associated with G-CSF was low (13.1%; 95% CI: 8.0-20.8) and clinically insignificant. G-CSF had an incremental cost-effectiveness ratio of $41,701 per SVR achieved in genotype 1, and $16,115 per SVR achieved in genotype 2 or 3. Estimates were robust under a variety of resource and intervention scenarios. While administration of G-CSF may enable patients to remain on or resume optimal HCV therapy, there was weak evidence that this improves the likelihood of SVR compared with dose reduction. Adverse effects of G-CSF are mild. The economic evaluation was inconclusive.

[Neurological manifestations of AGel amyloidosis (Meretoja's syndrome) in a German family]. / Neurologische Manifestationen der AGel-Amyloidose (Meretoja-Syndrom) bei einer deutschen Familie.

AGel amyloidosis is an autosomal dominantly inherited systemic amyloidosis which is most commonly observed in Finland. The clinical manifestation is characterised by lattice corneal dystrophy, bilateral facial palsy with myokymias, and cutis laxa. We report on a German family with an AGel amyloidosis due to a gelsolin p.Asp214Asn/D187N mutation encoded by exon 4 of the GSN gene on chromosome 9q34.

Sonographic and ophthalmic assessment of optic nerve in patients with idiopathic intracranial hypertension: A longitudinal study.

BACKGROUND: To assess the validity of neurosonological parameters (transorbital sonography (TOS)) for detection and monitoring of patients with idiopathic intracranial hypertension (IIH). METHODS: Prospective, single-center, case-controlled study in 25 patients with IIH and 19 controls. Visual parameters of papilledema, visual acuity, computerized static threshold perimetry, fundus examination, and neurosonological parameters of papilledema/optic disc elevation (ODE), optic nerve sheath diameter (ONSD) and optic nerve diameter (OND) were recorded at baseline and only for patients with IIH again within 6 months. RESULTS: ONSD was significantly enlarged among individuals with IIH (6.2 ± 0.73 mm) compared to controls (4.99 ± 0.54 mm; p < 0.001). Bilateral ODE was found in 36/50 eyes in patients at their initial visit and in none of the controls. Re-evaluation 6 months later showed a significant reduction of ONSD (6.0 ± 0.7 mm; p = 0.024) and ODE (0.2 (0-1) mm; p ≤0.001). Best corrected visual acuity (BCVA) and square root of lost variance (sLV) remained stable. Headache intensity (Numeric rating scale, NRS) improved significantly p < 0.001. When compared to patients with first diagnosed IIH (n = 18), the subset of patients with preexisting IIH with acute relapse (n = 7) showed persistent but reduced levels of ICP increase. They also presented significant decrease of BVCA (p = 0.01) and mean defect (MD) (p = 0.012). Re-evaluation 6 months later showed significant change in ODE in both groups. CONCLUSIONS: Our study confirmed that TOS and ophthalmological parameters are a valuable and non-invasive method to detect and monitor elevated ICP in IIH.