Polimorfizm –A162G genu PON1 jako czynnik ryzyka rozwoju sporadycznej postaci stwardnienia bocznego zanikowego

Background and purpose: Sporadic amyotrophic lateral sclerosis (sALS) is a devastating neurodegenerative disease, which results from complex genetic and environmental interactions. Recent studies have reported an association between several polymorphisms of the PON1 and PON2 genes and risk of sALS. The aim of the present study was to identify an association between the –A162G polymorphism of the promoter region of the human PON1 gene and the risk of sALS in a Polish population. Material and methods: We included 259 patients with a diagnosis of definite or probable sALS (76 bulbar onset, 183 limb onset) and 694 healthy controls matched for age and sex. The diagnosis of ALS was established according to El Escorial criteria. The polymorphism was studied by Single Nucleotide Polymorphism Real-Time Polymerase Chain Reaction analysis. Results: No overall difference in the PON1 –A162G geno - type and allele distribution was seen between cases and controls (all p > 0.05). There was, however, a difference in the A allele frequency when the bulbar onset group was compared to the controls (p = 0.03), but this significance disappeared after the Bonferroni correction. Conclusions: The results did not show that the –A162G polymorphism of the PON1 gene is a risk factor of sALS in a Polish population; it may affect, however, bulbar onset of the disease

Pre-stroke apathy symptoms are associated with an increased risk of delirium in stroke patients

Neuropsychiatric symptoms can be interrelated to delirium. We aimed to investigate an association between pre-stroke neuropsychiatric symptoms and the risk of delirium in stroke patients. We included 606 patients (median age: 73, 53% female) with stroke or transient ischemic attack admitted within 48 hours from symptoms onset. We assessed delirium on a daily basis during the first 7 days of hospitalization. To make diagnosis of delirium we used DSM-5 criteria. We used Neuropsychiatric Inventory to assess neuropsychiatric symptoms occurring within 4 weeks prior to stroke. We diagnosed delirium in 28.2% of patients. On univariate analysis, higher score of pre-stroke depression (OR: 1.58, 95% CI: 1.04–2.40, P = 0.03), apathy (OR: 2.23, 95% CI: 1.44–3.45, P < 0.01), delusions (OR: 2.00, 95% CI: 1.09–3.68, P = 0.03), hallucinations (OR: 2.39, 95% CI: 1.19–4.81, P = 0.01) and disinhibition (OR: 2.10, 95% CI: 1.04–4.25, P = 0.04) was associated with the increased risk of delirium. On multivariate analysis adjusted for age, atrial fibrillation, diabetes mellitus, stroke severity, right hemisphere lesion, pre-stroke cognitive decline, pre-stroke disability and infections, higher apathy score (OR: 2.03, 95% CI: 1.17–3.50, P = 0.01), but no other neuropsychiatric symptoms, remained independent predictor of delirium. We conclude that pre-stroke apathy symptoms are associated with increased risk of delirium in stroke patients

PRospective Observational POLIsh Study on post-stroke delirium (PROPOLIS) : methodology of hospital-based cohort study on delirium prevalence, predictors and diagnostic tools

BACKGROUND: Between 10 % to 48 % of patients develop delirium in acute phase of stroke. Delirium determinants and its association with other neuropsychiatric disturbances in stroke are poorly understood. The wildly accepted predictive model of post-stroke delirium is still lacking. METHODS/DESIGN: This is a prospective, observational, single-center study in patients with acute phase of stroke. We aim to include 750 patients ≥18 years with acute stroke or transient ischemic attack admitted to the stroke unit within 48 hours after stroke onset. The goals of the study are: 1) to determine frequency of delirium and subsyndromal delirium in Polish stroke patients within 7 days after admission to the hospital; 2) to determine factors associated with incidence, severity and duration of delirium and subsyndromal delirium and to create a predictive model for post-stroke delirium; 3) to determine the association between delirium and its cognitive, psychiatric, behavioral and functional short and long-term consequences; 4) to validate scales used for delirium diagnosis in stroke population. Patients will be screened for delirium on daily basis. The diagnosis of delirium will be based on DSM-V criteria. Abbreviated version of Confusion Assessment Method and Confusion Assessment Method for the Intensive Care Unit will be used for delirium and sub-delirium screening. Severity of delirium symptoms will be assessed by Delirium Rating Scale Revised 98 and Cognitive Test for Delirium. Patients who survive will undergo extensive neuropsychological, neuropsychiatric and functional assessment 3 and 12 months after the stroke. DISCUSSION: This study is designed to provide information on clinical manifestation, diagnostic methods and determinants of delirium spectrum disorders in acute stroke phase and their short and long-term consequences. Collected information allow us to create a predictive model for post-stroke delirium

Polimorfizm –A162G genu PON1 jako czynnik ryzyka rozwoju sporadycznej postaci stwardnienia bocznego zanikowego

Background and purpose Sporadic amyotrophic lateral sclerosis (sALS) is a devastating neurodegenerative disease, which results from complex genetic and environmental interactions. Recent studies have reported an association between several polymorphisms of the PON1 and PON2 genes and risk of sALS. The aim of the present study was to identify an association between the – A162G polymorphism of the promoter region of the human PON1 gene and the risk of sALS in a Polish population. Material and methods We included 259 patients with a diagnosis of definite or probable sALS (76 bulbar onset, 183 limb onset) and 694 healthy controls matched for age and sex. The diagnosis of ALS was established according to El Escorial criteria. The polymorphism was studied by Single Nucleotide Polymorphism Real-Time Polymerase Chain Reaction analysis. Results No overall difference in the PONI – A162G genotype and allele distribution was seen between cases and controls (all p &gt; 0.05). There was, however, a difference in the A allele frequency when the bulbar onset group was compared to the controls (p = 0.03), but this significance disappeared after the Bonferroni correction. Conclusions The results did not show that the – A162G polymorphism of the PON1 gene is a risk factor of sALS in a Polish population; it may affect, however, bulbar onset of the disease.Wstęp i cel pracy Sporadyczna postać stwardnienia bocznego zanikowego (sSLA) jest chorobą zwyrodnieniową układu nerwowego, w której etiopatogenezie kluczową rolę odgrywają interakcje między czynnikami genetycznymi i środowiskowymi. Dotychczasowe badania wskazują na istnienie zależności między polimorfizmami genów PON1 i PON2 a ryzykiem wystąpienia sSLA. Celem pracy było zbadanie, czy istnieje związek między polimorfizmem – A162G miejsca promotorowego genu PON1 a ryzykiem wystąpienia sSLA w populacji polskiej. Materiał i metody Badanie przeprowadzono u 259 chorych, uktórych zgodnie z kryteriami El Escorial rozpoznano pewne lub prawdopodobne SLA (76 osób z postacią opuszkową, 183 osoby z postacią kończynową) oraz u 694 zdrowych ochotników, stanowiących grupę kontrolną dobraną pod względem wieku i płci. Polimorfizm genu PON1 był badany za pomocą reakcji łańcuchowej polimerazy DNA z analizą ilości produktu w czasie rzeczywistym. Wyniki Nie stwierdzono istotnych statystycznie różnic w rozkładzie genotypów i alleli genu PON1 między grupą chorych a grupą kontrolną (p &gt; 0,05). Stwierdzono natomiast różnice w częstości występowania allela A między grupą chorych z postacią opuszkową w porównaniu z grupą kontrolną (p = 0,03), jednak po korekcie Bonferroniego wynik ten nie był już istotny statystycznie. Wnioski Wyniki naszego badania nie wykazały, aby polimorfizm – A162G genu PON1 był czynnikiem ryzyka sSLA w populacji polskiej, jednak sugerują, że może mieć znaczenie dla wystąpienia postaci opuszkowej tej choroby

Polimorfizm rs2200733 na chromosomie 4q25 jest czynnikiem ryzyka udaru sercowozatorowego związanego z migotaniem przedsionków w populacji polskiej

Background and purpose A few single nucleotide polymorphisms (SNPs) on chromosome 4q25, associated with atrial fibrillation (AF), are risk factors for ischaemic stroke. We studied the significance of the SNP rs2200733 on chromosome 4q25 in different types of cardioembolic (CE) stroke. Material and methods: We genotyped 428 controls and 301 CE stroke patients, among whom 197 (65.4%) presented with high risk sources of embolism (CE stroke related to AF) and 104 with medium risk sources (CE stroke unrelated to AF). The SNP rs2200733 was analysed using real-time polymorphism chain reaction. Results Both univariate and multivariate regression analyses showed that the studied variant affected risk of all CE strokes or CE strokes related to AF in recessive and additive models. The two types of CE stroke differed significantly in demographics and distribution of vascular risk factors. Conclusions The SNP rs2200733 on chromosome 4q25 is a risk factor for CE stroke related to AF only

Polimorfizm rs2200733 na chromosomie 4q25 jest czynnikiem ryzyka udaru sercowozatorowego związanego z migotaniem przedsionków w populacji polskiej

Background and purpose A few single nucleotide polymorphisms (SNPs) on chromosome 4q25, associated with atrial fibrillation (AF), are risk factors for ischaemic stroke. We studied the significance of the SNP rs2200733 on chromosome 4q25 in different types of cardioembolic (CE) stroke. Material and methods: We genotyped 428 controls and 301 CE stroke patients, among whom 197 (65.4%) presented with high risk sources of embolism (CE stroke related to AF) and 104 with medium risk sources (CE stroke unrelated to AF). The SNP rs2200733 was analysed using real-time polymorphism chain reaction. Results Both univariate and multivariate regression analyses showed that the studied variant affected risk of all CE strokes or CE strokes related to AF in recessive and additive models. The two types of CE stroke differed significantly in demographics and distribution of vascular risk factors. Conclusions The SNP rs2200733 on chromosome 4q25 is a risk factor for CE stroke related to AF only.Wstęp i cel pracy Kilka polimorfizmów na chromosomie 4q25, związanych z migotaniem przedsionków, jest czynnikami ryzyka udaru niedokrwiennego mózgu. Przeanalizowano znaczenie polimorfizmu rs2200733 na chromosomie 4q25 w różnych typach udaru sercowozatorowego. Materiał i metody Badany polimorfizm oznaczono u 428 osób tworzących grupę kontrolną oraz u 301 chorych na udar sercowozatorowy, spośród których 197 (65,4%) miało źródło zatorowości o dużym ryzyku (udar sercowozatorowy związany z migotaniem przedsionków), a 104 o pośrednim ryzyku (udar sercowozatorowy niezwiązany z migotaniem przedsionków). Do analizy polimorfizmu rs2200733 wykorzystano reakcję łańcuchową polimerazy DNA z analizą ilości produktu w czasie rzeczywistym. Wyniki Zarówno jedno-, jak i wieloczynnikowa analiza regresji logistycznej wykazały, że badany wariant wpływał na ryzyko wystąpienia wszystkich udarów sercowozatorowych oraz tych związanych z migotaniem przedsionków w modelach recesywnym i addytywnym. Dwa typy udaru sercowozatorowego różniły się w zakresie czynników demograficznych oraz rozkładu naczyniowych czynników ryzyka. Wnioski Polimorfizm rs2200733 na chromosomie 4q25 jest czynnikiem ryzyka jedynie udaru sercowozatorowego związanego z migotaniem przedsionków

Cladribine tablets for highly active relapsing-remitting multiple sclerosis in Poland: a real-world, multi-centre, retrospective, cohort study during the COVID-19 pandemic

Introduction. Treatment with cladribine tablets is indicated in highly active relapsing-remitting multiple sclerosis (RRMS). Cladribine tablets proved safe and effective in the pivotal CLARITY trial, but that trial included primarily treatment-naïve patients. In clinical practice however, cladribine tablets are often given to patients who have failed other treatments. Therefore, this study investigated the real-world safety and efficacy of cladribine tablets. Material and methods. We gathered data from nine MS clinical centres across Poland for patients with RRMS who started treatment with cladribine tablets from December 2019 to June 2022. Results. We enrolled 140 patients, with follow-up data available for 136 in year 1 and for 66 in year 2. At baseline, the mean age was 35.6 years, mean disease duration was 7.3 years, median EDSS score was 2.5, and 94% of patients were treatment- -experienced. Thirty-nine patients (27.9%) had undergone COVID-19, and 94 (67.1%) were vaccinated against COVID-19. The annualised relapse rate (ARR) decreased from 1.49 at baseline to 0.33 in year 1 (p &lt; 0.001) and to 0.25 in year 2 (p &lt; 0.001). The percentage of relapse-free patients increased from 11.5% at baseline to 70.2% in year 1 and 82.1% in year 2. The percentage of patients with active lesions decreased from 91.4% at baseline to 36.2% in year 1 and 18.2% in year 2. EDSS score remained stable or improved in 83.7% of patients in year 1 and 89.6% in year 2. No evidence of disease activity (NEDA-3) was achieved in 42.7% of patients in year 1 and 66.7% in year 2. Only one patient (0.72%) had grade 4 lymphopenia and 21 (15.1%) had grade 3 lymphopenia. Varicella zoster virus infections occurred in three patients. Eight patients discontinued treatment with cladribine: five due to inefficacy, one due to lymphopenia, and two due to a personal decision. Conclusions. Cladribine tablets proved safe and effective in a real-world cohort of treatment-experienced patients. However, the efficacy measures improved to a lesser extent in our cohort than in the pivotal clinical trial, which is probably due to a higher proportion of treatment-experienced patients in our cohort

Współczesne kierunki w medycynie prewencyjnej

Praca recenzowana / Peer-reviewed paperTreści artykułów w niniejszej monografii odnoszą czytelnika nie tylko do bardzo różnych kierunków prozdrowotnych, ale także do leczenia schorzeń już występujących. Zamierzeniem autorów było przedstawienie wybranych zagadnień z zakresu profilaktyki prozdrowotnej cukrzycy, otyłości, zaburzeń lipidowych i zmian skórnych, pielęgnacji w tych schorzeniach, a także problemów kosmetologicznych skóry, towarzyszącym tymże zaburzeniom. Autorzy poszczególnych rozdziałów starali się przedstawić poruszane problemy w oparciu o aktualną dokumentację medyczną z nadzieją, że pozwoliło to kompleksowo wyjaśnić poruszane w monografii problemy