Profil hormonalny u kobiet chorych na stwardnienie rozsiane w powiązaniu z aktywnością choroby — doniesienie wstępne

Background and purpose The influence of sex hormones on immune system activity in multiple sclerosis (MS) has been suggested by clinical evidence. The aim of the study was to analyse the pattern of sex hormones in MS women and to correlate the hormone pattern abnormalities to the disease course as well as to the magnetic resonance imaging (MRI) results. Material and methods We studied the serum level of the progesterone, β-oestradiol and prolactin in 46 women with clinical definite MS aged from 19 to 65; mean disease duration was 11.80 ± 9.86 years. The evaluation of the intensity of hormonal changes was done using a scoring system (0–3). On the brain MRI, the presence of brain atrophy, of hypothalamic demyelination as well as demyelination intensity (or degree) were analysed. The evaluation of the degree of demyelination and brain atrophy was done using a scoring system (0–4). Results The main hormonal abnormalities consisted of decreased progesterone level, increased oestradiol level or both. The sex hormone pattern was abnormal in 56% of patients. Hypothalamic lesions were found on MRI in 53% of cases. The abnormal hormonal pattern correlated with intensity of MR changes (p < 0.05, Fisher's exact test), but neither with presence of hypothalamic changes nor with disease parameters (Expanded Disability Status Scale, relapse rate, disease duration). Conclusions It is important to check the hormonal pattern in MS women because according to our results it may be related to the disease activity and probably affects the type of therapeutic intervention. This pilot study will be extended in a larger population.Wstęp i cel pracy Dane z piśmiennictwa sugerują częste występowanie zaburzeń hormonalnych u kobiet chorych na stwardnienie rozsiane (SR). Celem pracy była analiza profilu hormonalnego w zakresie hormonów płciowych u kobiet z SR w powiązaniu z przebiegiem klinicznym i obrazem rezonansu magnetycznego (RM) mózgowia. Materiał i metody Badano stężenie progesteronu, β-estradiolu i prolaktyny w surowicy u 46 pacjentek z klinicznie pewnym SR, w wieku od 19 lat do 65 lat, o średnim czasie trwania choroby 11,80 ± 9,86 roku, niestosujących żadnej terapii hormonalnej. Stopień zmian w profilu hormonalnym oceniano półilościowo wg przyjętego arbitralnie przez autorów systemu punktacji (0—3).W analizie RM brano pod uwagę obecność ognisk demielinizacji w obrębie struktur podwzgórza, nasilenie demielinizacji w obrębie mózgowia oraz współistnienie zaniku mózgu. Stopień zmian w RM oceniano także półilościowo wg przyjętego arbitralnie przez autorów systemu punktacji (0—4). Wyniki Nieprawidłowe stężenia hormonów stwierdzono u 26 pacjentek (56%). Nieprawidłowości polegały na zmniejszonym stężeniu progesteronu, zwiększonym stężeniu 17-β-estradiolu bądź na łącznym występowaniu obu tych zaburzeń. W badaniu RM w 53% przypadków stwierdzono obecność zmian demielinizacyjno-zapalnych w obrębie podwzgórza. Stopień zaburzeń hormonalnych oceniany półilościowo korelował ze stopniem zmian w RM mózgowia (p < 0,05; test dokładny Fishera), nie był natomiast związany z obecnością zmian w obrębie podwzgórza czy parametrami klinicznymi (punktacja w Expanded Disability Status Scale, częstość rzutów, czas trwania choroby). Wnioski Stan hormonalny kobiet chorych na SR powinien być brany pod uwagę w analizie klinicznej choroby i przy decyzjach terapeutycznych, gdyż wydaje się mieć związek z aktywnością SR. Badania te, w celu potwierdzenia uzyskanych wyników, należy kontynuować na szerszym materiale

Udar niedokrwienny u pacjentki ze stwardnieniem rozsianym jako powikłanie długotrwałego leczenia immunosupresyjnego mitoksantronem - opis przypadku

Przedstawiono przypadek 43-letniej chorej ze stwardnieniem rozsianym (SM, sclerosis multiplex), leczonej immunosupresyjnie mitoksantronem, u której wystąpił udar niedokrwienny w trakcie stosowania wyżej wspomnianego leczenia. Dwa miesiące po 5. podaniu wlewu dożylnego mitoksantronu (dawka skumulowana 44 mg/m2) u pacjentki wystąpił pierwszy w życiu napad drgawek uogólnionych z kilkugodzinnym stanem pomrocznym. W badaniu rezonansu magnetycznego uwidoczniono obszar odpowiadający zawałowi mózgu z niewielkim brzeżnym ukrwotocznieniem na pograniczu skroniowo-ciemieniowo-potylicznym prawej półkuli oraz niewielki linijny obszar rozmiękania w homotopowym obszarze lewej półkuli. W badaniach pomocniczych wykluczono główne przyczyny udaru niedokrwiennego. Leczenie mitoksantronem przerwano. Po 18 miesiącach wystąpił stan padaczkowy, który był powodem hospitalizacji na oddziale intensywnej opieki medycznej. Przy przyjęciu do szpitala pacjentka była w stanie ciężkim (4 pkt. w Glasgow Coma Scale); mimo stosowanego leczenia obserwowano gromadne napady padaczkowe. W 6. dobie hospitalizacji chora zmarła. Autopsji nie wykonywano. W przypadku tym rozważano możliwą rolę mitoksantronu jako czynnika sprawczego udaru niedokrwiennego

Clinical course and outcome of SARS-CoV-2 infection in multiple sclerosis patients treated with disease-modifying therapies — the Polish experience

Introduction. The aim of this study was to report the course and outcome of SARS-CoV-2 infection in multiple sclerosis (MS) patients treated with disease-modifying therapies (DMTs) in Poland. A major concern for neurologists worldwide is the course and outcome of SARS-CoV-2 infection in patients with MS treated with different DMTs. Although initial studies do not suggest an unfavourable course of infection in this group of patients, the data is limited.Materials and methods. This study included 396 MS patients treated with DMTs and confirmed SARS-CoV-2 infection from 28 Polish MS centres. Information concerning patient demographics, comorbidities, clinical course of MS, current DMT use, as well as symptoms of SARS-CoV-2 infection, need for pharmacotherapy, oxygen therapy, and/or hospitalisation, and short-term outcomes was collected up to 30 January 2021. Additional data about COVID-19 cases in the general population in Poland was obtained from official reports of the Polish Ministry of Health.Results. There were 114 males (28.8%) and 282 females (71.2%). The median age was 39 years (IQR 13). The great majority of patients with MS exhibited relapsing-remitting course (372 patients; 93.9%). The median EDSS was 2 (SD 1.38), and the mean disease duration was 8.95 (IQR 8) years. Most of the MS patients were treated with dimethyl fumarate (164; 41.41%). Other DMTs were less frequently used: interferon beta (82; 20.70%), glatiramer acetate (42; 10.60%), natalizumab (35;8.84%), teriflunomide (25; 6.31%), ocrelizumab (20; 5.05%), fingolimod (16; 4.04), cladribine (5; 1.26%), mitoxantrone (3; 0.76%), ozanimod (3; 0.76%), and alemtuzumab (1; 0.25%). The overall hospitalisation rate due to COVID-19 in the cohort was 6.81% (27 patients). Only one patient (0.3%) died due to SARS-CoV-2 infection, and three (0.76%) patients were treated with mechanical ventilation; 106 (26.8%) patients had at least one comorbid condition. There were no significant differences in the severity of SARS-CoV-2 infection regarding patient age, duration of the disease, degree of disability (EDSS), lymphocyte count, or type of DMT used.Conclusions and clinical implications. Most MS patients included in this study had a favourable course of SARS-CoV-2 infection. The hospitalisation rate and the mortality rate were not higher in the MS cohort compared to the general Polish population. Continued multicentre data collection is needed to increase the understanding of SARS-CoV-2 infection impact on the course of MS in patients treated with DMTs

„Blogoraki” – w poszukiwaniu nowego języka choroby

“Cancerlogs” are an important phenomenon in contemporary culture as they play a significant role in the process of cancer “demystification” and breaking the taboo associated with the life of people affected by the disease. At the same time they reveal that there is a great need to create a new language of the disease – a language closer to life, not to death. Joanna Sałyga’s blog – What will be the use of a headscarf? – became very popular on the Internet, and its author has also become the subject of reports in traditional media. I use it to demonstrate in the article how ill bloggers contribute to shaping contemporary discourse on the disease, both on the Internet and in the traditional media

Search for viral agents in cerebrospinal fluid in patients with multiple sclerosis using real-time PCR and metagenomics.

Multiple sclerosis (MS) is a chronic, immune-mediated demyelinating disease of the central nervous system of unclear etiology, but there is some evidence that viral infections could be responsible for triggering autoimmune mechanisms against myelin. We searched for viral RNA and DNA in cerebrospinal fluid (CSF) of 34 MS patients and 13 controls using RT-PCR/PCR against common neurotropic viruses. In addition, shotgun DNA- and RNA-based metagenomics were done in 13 MS patients and 4 controls. Specific quantitative real-time RT-PCR/PCR testing revealed the presence of viral nucleic acid in seven (20.59%) MS patients and in one (7.69%) control patient. In MS patients the most frequently detected was human herpesvirus type 6 (HHV-6; 3 cases; 8.82%); followed by Epstein-Barr virus (EBV; 2 cases; 5.88%), varicella zoster virus (VZV; 1 case; 2.94%) and Enterovirus (EV; 1 case; 2.94%). The single identified virus among controls was EBV (7.69%). DNA and RNA metagenomic assays did not identify any known eukaryotic viruses even though three of the analyzed samples were low-level positive by specific quantitative real-time PCR. In conclusion, we detected the presence of Herpesviridae and occasionally Enteroviridae in CSF from patients with MS but their prevalence was not significantly higher than among controls. Metagenomic analysis seems to be less sensitive than real-time RT-PCR/PCR and it did not detect any potential viral pathogens

Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy

We report on a 36-year-old man with cerebellar-extrapyramidal syndrome and severe heart failure because of dilated cardiomyopathy of unknown origin. Dysarthria and cardiac arrhythmia began at early childhood (4 years of age). Brain MRI (28 years of age) demonstrated severe cerebellar atrophy. At the age 32, he presented with dysarthria, ataxia, dystonia, and tremor of the right hand, bilateral slowed neural conduction in the visual pathways, and decreased mental acuity. At the age of 33 years, the patient underwent cardiac transplantation because of severe dilated cardiomyopathy. In the TPP1 gene, biallelic variants were identified: previously reported p.(Leu13Pro) and novel p.(Tyr508Cys) variant. Additionally, hemizygous novel missense variant in the ABCD1 gene was inherited from the mother p.(Arg17His). Normal very-long-chain fatty acids (VLCFA) levels both in patient and his mother excluded ABCD1 mutation as the pathogenic one. Tripeptidyl peptidase 1 (TPP1) activity was reduced (8,8 U/mg protein/h; reference range: 47.4 ± 10.7). In light microscopy the biopsy specimens obtained from explanted heart showed severe myocyte hypertrophy with perinuclear vacuolization with inclusions. Electron microscopy revealed absence of lipofuscin accumulation, no ultrastructural curvilinear profiles, fingerprint bodies, or granular osmiophilic deposits (GRODs) in lysosomes. As described here, the patient presents clinical symptoms observed in benign forms of ceroid lipofuscinosis type 2 (CLN2) and simultaneously some features of autosomal recessive spinocerebellar ataxia type 7 (SCAR7), which is also caused by mutations in the TPP1 gene

Być zdolnym – wspierać zdolnych

Praca recenzowana / peer-reviewed paperByć zdolnym – wspierać zdolnych to książka szczególna. Zawiera teksty napisane przez nauczycieli – uczestników studiów podyplomowych Praca z uczniem zdolnym. Stanowią oni pierwszą grupę specjalistów w zakresie rozpoznawania, opieki i wspierania uczniów zdolnych w województwie świętokrzyskim. Takie kadry są szczególnie potrzebne wobec zmian w systemie pracy ze zdolnymi, wdrażanych w szkołach i placówkach od roku szkolnego 2011/2012. Studia były realizowane w ramach projektu Benild – Doskonalenie Świętokrzyskich Kadr Oświaty, współfinansowanego ze środków Unii Europejskiej w ramach Europejskiego Funduszu Społecznego, na Uniwersytecie Jana Kochanowskiego w Kielcach. Celem studiów było nabywanie przez nauczycieli kompetencji w obszarze identyfikacji i wspierania uczniów zdolnych

Analysis of side effects following vaccination against COVID-19 among individuals with multiple sclerosis treated with DMTs in Poland

BACKGROUND AND OBJECTIVES: Since vaccination against COVID-19 is available for over a year and the population of immunized individuals with autoimmune disorders is higher than several months before, an evaluation of safety and registered adverse events can be made. We conducted a large study of side effects following the COVID-19 vaccine among patients with multiple (MS) sclerosis treated with disease-modifying therapies (DMTs) and analyzed factors predisposing for particular adverse events. METHODS: We gathered data of individuals with MS treated with DMTs from 19 Polish MS Centers, who reported at least one adverse event following COVID-19 vaccination. The information was obtained by neurologists using a questionnaire. The same questionnaire was used at all MS Centers. To assess the relevance of reported adverse events, we used Fisher's exact test, t-test, and U-Menn-Whutney test. RESULTS: A total of 1,668 patients with MS and reports of adverse events after COVID-19 vaccination were finally included in the study. Besides one case marked as “red flag”, all adverse events were classified as mild. Pain at the injection site was the most common adverse event, with a greater frequency after the first dose. Pain at the injection site was significantly more frequent after the first dose among individuals with a lower disability (EDSS ≤2). The reported adverse events following immunization did not differ over sex. According to age, pain at the injection site was more common among individuals between 30 and 40 years old, only after the first vaccination dose. None of the DMTs predisposed for particular side effects. CONCLUSIONS: According to our findings, vaccination against COVID-19 among patients with MS treated with DMTs is safe. Our study can contribute to reducing hesitancy toward vaccination among patients with MS

Safety of vaccines against SARS-CoV-2 among Polish patients with multiple sclerosis treated with disease-modifying therapies

(1) Background: The present study aims to report the side effects of vaccination against coronavirus disease 2019 (COVID-19) among patients with multiple sclerosis (MS) who were being treated with disease-modifying therapies (DMTs) in Poland. (2) Methods: The study included 2261 patients with MS who were being treated with DMTs, and who were vaccinated against COVID-19 in 16 Polish MS centers. The data collected were demographic information, specific MS characteristics, current DMTs, type of vaccine, side effects after vaccination, time of side-effect symptom onset and resolution, applied treatment, relapse occurrence, and incidence of COVID-19 after vaccination. The results were presented using maximum likelihood estimates of the odds ratio, t-test, Pearson’s chi-squared test, Fisher’s exact p, and logistic regression. The statistical analyses were performed using STATA 15 software. (3) Of the 2261 sampled patients, 1862 (82.4%) were vaccinated with nucleoside-modified messenger RNA (mRNA) vaccines. Mild symptoms after immunization, often after the first dose, were reported in 70.6% of individuals. Symptoms included arm pain (47.5% after the first dose and 38.7% after the second dose), fever/chills/flu-like symptoms (17.1% after the first dose and 20.5% after the second dose), and fatigue (10.3% after the first dose and 11.3% after the second dose). Only one individual presented with severe side effects (pro-thrombotic complications) after vaccination. None of the DMTs in the presented cohort were predisposed to the development of side effects. Nine patients (0.4%) had a SARS-CoV-2 infection confirmed despite vaccination. (4) Conclusions: Vaccination against SARS-CoV-2 is safe for people with MS who are being treated with DMTs. Most adverse events following vaccination are mild and the acute relapse incidence is low