Zespół hemiparkinsonizm-hemiatrofia – opis dwóch przypadków i przegląd piśmiennictwa

Hemiparkinsonism-hemiatrophy (HPHA) is a rare neurological syndrome. The main clinical features of HPHA consist of atrophy of one side of the body (face, trunk, limbs), ipsilateral hemiparkinsonism (bradykinesia, rigidity, tremor) and in many cases dystonia. There are no data on prevalence of HPHA as the condition is rare. The mean age of parkinsonism onset is earlier than in idiopathic Parkinson disease (43.7 years, range: 15–63). Changes in magnetic resonance imaging (MRI) (cortical, basal ganglia atrophy contralaterally to the side of clinical presentation) are described in 30% of patients. The pathogenesis of HPHA is unknown, but in many cases a history of prenatal injuries was reported. We present two male patients with HPHA – 45 and 55 years old, with left-sided parkinsonism, dystonia and hemiatrophy (to our knowledge, the first Polish cases). Both patients had no atrophic changes in MRI and levodopa treatment was ineffective. In the discussion the authors review current literature on HPHA.Zespół hemiparkinsonizm-hemiatrofia (hemiparkinsonism-hemiatrophy – HPHA) jest rzadkim schorzeniem neurologicznym. Głównymi objawami są zanik połowy ciała (w zakresie twarzy, tułowia, kończyn) oraz tożstronny zespół parkinsonowski (bradykinezja, sztywność, drżenie), któremu u wielu chorych towarzyszy także dystonia. Z powodu rzadkiego występowania tego schorzenia nie ma danych epidemiologicznych. średnia wieku pojawienia się objawów parkinsonowskich jest niższa niż dla idiopatycznej choroby Parkinsona i wynosi 43,7 roku (zakres: od 15 do 63 lat). Zmiany w badaniu obrazowym mózgu (połowiczy przeciwstronny zanik korowy i podkorowy) opisywane są w 30% przypadków. Patogeneza choroby jest nieznana, ale w wielu przypadkach opisywano zaburzenia w okresie prenatalnym. W pracy prezentujemy dwóch pacjentów z HPHA – mężczyzn w wieku 45 i 55 lat z objawami lewostronnego parkin-sonizmu, dystonii i połowiczego zaniku ciała. U żadnego z pacjentów nie stwierdzono zmian w badaniu za pomocą rezonansu magnetycznego. Odpowiedź na lewodopę była ograniczona. Według naszej wiedzy jest to pierwsza polska publikacja prezentująca HPHA. W dyskusji dokonano także przeglądu piśmiennictwa na ten temat

Thrombectomy-capable stroke centre—a key to acute stroke care system improvement?:Retrospective analysis of safety and efficacy of endovascular treatment in cardiac Cathlab

The optimal structure of the acute ischaemic stroke treatment network is unknown and eagerly sought. To make it most effective, different treatment and transportation strategies have been developed and investigated worldwide. Since only a fraction of acute stroke patients with large vessel occlusion are treated, a new entity—thrombectomy-capable stroke centre (TCSC)—was introduced to respond to the growing demand for timely endovascular treatment. The purpose of this study was to present the early experience of the first 70 patients treated by mechanical means in a newly developed cardiac Cathlab-based TCSC. The essential safety and efficacy measures were recorded and compared with those reported in the invasive arm of the HERMES meta-analysis—the largest published dataset on the subject. We found no significant differences in terms of clinical and safety outcomes, such as early neurological recovery, level of functional independence at 90 days, symptomatic intracranial haemorrhage, parenchymal haematoma type 2, and mortality. These encouraging results obtained in the small endovascular centre may be an argument for the introduction of the TCSC into operating stroke networks to increase patient access to timely treatment and to improve clinical outcomes

World Federation for Interventional Stroke Treatment (WIST) multispecialty training guidelines for endovascular stroke intervention

Introduction: Today, endovascular treatment (EVT) is the therapy of choice for strokes due to acute large vessel occlusion, irrespective of prior thrombolysis. This necessitates fast, coordinated multi-specialty collaboration. Currently, in most countries, the number of physicians and centres with expertise in EVT is limited. Thus, only a small proportion of eligible patients receive this potentially life-saving therapy, often after significant delays. Hence, there is an unmet need to train a sufficient number of physicians and centres in acute stroke intervention in order to allow widespread and timely access to EVT. Aim: To provide multi-specialty training guidelines for competency, accreditation and certification of centres and physicians in EVT for acute large vessel occlusion strokes. Material and methods: The World Federation for Interventional Stroke Treatment (WIST) consists of experts in the field of endovascular stroke treatment. This interdisciplinary working group developed competency – rather than time-based – guidelines for operator training, taking into consideration trainees’ previous skillsets and experience. Existing training concepts from mostly single specialty organizations were analysed and incorporated. Results: The WIST establishes an individualized approach to acquiring clinical knowledge and procedural skills to meet the competency requirements for certification of interventionalists of various disciplines and stroke centres in EVT. WIST guidelines encourage acquisition of skills using innovative training methods such as structured supervised high-fidelity simulation and procedural performance on human perfused cadaveric models. Conclusions: WIST multispecialty guidelines outline competency and quality standards for physicians and centres to perform safe and effective EVT. The role of quality control and quality assurance is highlighted

World Federation for Interventional Stroke Treatment (WIST) multispecialty training guidelines for endovascular stroke intervention

IntroductionToday, endovascular treatment (EVT) is the therapy of choice for strokes due to acute large vessel occlusion, irrespective of prior thrombolysis. This necessitates fast, coordinated multi-specialty collaboration. Currently, in most countries, the number of physicians and centres with expertise in EVT is limited. Thus, only a small proportion of eligible patients receive this potentially life-saving therapy, often after significant delays. Hence, there is an unmet need to train a sufficient number of physicians and centres in acute stroke intervention in order to allow widespread and timely access to EVT.AimTo provide multi-specialty training guidelines for competency, accreditation and certification of centres and physicians in EVT for acute large vessel occlusion strokes.Material and methodsThe World Federation for Interventional Stroke Treatment (WIST) consists of experts in the field of endovascular stroke treatment. This interdisciplinary working group developed competency – rather than time-based – guidelines for operator training, taking into consideration trainees' previous skillsets and experience. Existing training concepts from mostly single specialty organizations were analysed and incorporated.ResultsThe WIST establishes an individualized approach to acquiring clinical knowledge and procedural skills to meet the competency requirements for certification of interventionalists of various disciplines and stroke centres in EVT. WIST guidelines encourage acquisition of skills using innovative training methods such as structured supervised high-fidelity simulation and procedural performance on human perfused cadaveric models.ConclusionsWIST multispecialty guidelines outline competency and quality standards for physicians and centres to perform safe and effective EVT. The role of quality control and quality assurance is highlighted

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

Performance Indicators and Standards for Polish Research Libraries

Performance Indicators and Standards for Polish Research Libraries Abstract: The article discusses proposed standards for Polish research libraries evaluation. At the beginning, the authors present the situation of research libraries in Poland. They write about the effects of the social-political transformation in the 90s, present selected statistical data, and describe the progress in computerisation. The following part of the article relates to the currently applied in Poland standards of library evaluation. Discussed are e.g. the presently applied tools for data collection and analysis. The last part includes proposed methods for the preparation of standards and assessments for Polish research libraries

Thrombectomy-Capable Stroke Centre—A Key to Acute Stroke Care System Improvement? Retrospective Analysis of Safety and Efficacy of Endovascular Treatment in Cardiac Cathlab

The optimal structure of the acute ischaemic stroke treatment network is unknown and eagerly sought. To make it most effective, different treatment and transportation strategies have been developed and investigated worldwide. Since only a fraction of acute stroke patients with large vessel occlusion are treated, a new entity—thrombectomy-capable stroke centre (TCSC)—was introduced to respond to the growing demand for timely endovascular treatment. The purpose of this study was to present the early experience of the first 70 patients treated by mechanical means in a newly developed cardiac Cathlab-based TCSC. The essential safety and efficacy measures were recorded and compared with those reported in the invasive arm of the HERMES meta-analysis—the largest published dataset on the subject. We found no significant differences in terms of clinical and safety outcomes, such as early neurological recovery, level of functional independence at 90 days, symptomatic intracranial haemorrhage, parenchymal haematoma type 2, and mortality. These encouraging results obtained in the small endovascular centre may be an argument for the introduction of the TCSC into operating stroke networks to increase patient access to timely treatment and to improve clinical outcomes

Clinical manifestations of intermediate allele carriers in Huntington disease

Objective: There is controversy about the clinical consequences of intermediate alleles (IAs) in Huntington disease (HD). The main objective of this study was to establish the clinical manifestations of IA carriers for a prospective, international, European HD registry. Methods: We assessed a cohort of participants at risk with <36 CAG repeats of the huntingtin (HTT) gene. Outcome measures were the Unified Huntington's Disease Rating Scale (UHDRS) motor, cognitive, and behavior domains, Total Functional Capacity (TFC), and quality of life (Short Form-36 [SF-36]). This cohort was subdivided into IA carriers (27-35 CAG) and controls (<27 CAG) and younger vs older participants. IA carriers and controls were compared for sociodemographic, environmental, and outcome measures. We used regression analysis to estimate the association of age and CAG repeats on the UHDRS scores. Results: Of 12,190 participants, 657 (5.38%) with <36 CAG repeats were identified: 76 IA carriers (11.56%) and 581 controls (88.44%). After correcting for multiple comparisons, at baseline, we found no significant differences between IA carriers and controls for total UHDRS motor, SF-36, behavioral, cognitive, or TFC scores. However, older participants with IAs had higher chorea scores compared to controls (p 0.001). Linear regression analysis showed that aging was the most contributing factor to increased UHDRS motor scores (p 0.002). On the other hand, 1-year follow-up data analysis showed IA carriers had greater cognitive decline compared to controls (p 0.002). Conclusions: Although aging worsened the UHDRS scores independently of the genetic status, IAs might confer a late-onset abnormal motor and cognitive phenotype. These results might have important implications for genetic counseling. ClinicalTrials.gov identifier: NCT01590589