Article
Biochemistry & Molecular Biology
Justyna Basak, Danuta Piotrzkowska, Aleksandra Kucharska-Lusina, Ireneusz Majsterek
Summary: This study compared the methylation and hydroxymethylation levels of CpG sites within microRNA promoters in multiple sclerosis (MS) patients and controls, revealing significant intergroup differences and a positive correlation with the expression of miR-155 and miR-223. These findings shed light on the etiology of MS and suggest potential therapeutic targets via modulation of epigenetic modifications.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Fardowsa L. A. Yusuf, Ayesha Asaf, Ruth Ann Marrie, Ping Li, Kyla McKay, Yinshan Zhao, Feng Zhu, Colleen Maxwell, Helen Tremlett
Summary: Canada has one of the highest rates of paediatric-onset multiple sclerosis (PoMS) globally, and the prevalence, but not incidence, has increased over time. Allocation of resources to support the growing youth population with MS should be a priority.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
A. Habbestad, J. S. Willumsen, J. H. Aarseth, N. Grytten, R. Midgard, S. Wergeland, K. M. Myhr, O. Torkildsen
Summary: The study investigated the age at onset of RRMS over the past century. The mean age at onset increased significantly, while the time from onset to diagnosis decreased. It was observed that the proportion of MS onset after 50 years of age increased over time. Additionally, a bimodal distribution of age at onset was found, peaking at around 30 years and 40-45 years.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Luca Prosperini, Matteo Lucchini, Serena Ruggieri, Carla Tortorella, Shalom Haggiag, Massimiliano Mirabella, Carlo Pozzilli, Claudio Gasperini
Summary: This study shows a trend of older age at onset for multiple sclerosis (MS) and a decrease in the interval between onset and diagnosis. Additionally, among patients aged 40 and above, there is a higher female-to-male ratio, more frequent spinal cord onset, and less frequent supratentorial onset.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Genetics & Heredity
Monica Abreu-Glowacka, Witold Pepinski, Eliza Michalak, Magdalena Konarzewska, Krzysztof Zak, Malgorzata Skawronska, Anna Niemcunowicz-Janica, Ireneusz Soltyszewski, Pawel Krajewski, Czeslaw Zaba
Summary: The results of this study demonstrate that InDel markers exhibit high individual identification power in the Polish population, and significant differences were observed compared to other populations.
Article
Clinical Neurology
Hiroaki Sekiya, Shunsuke Koga, Yoshihisa Otsuka, Norio Chihara, Takehiro Ueda, Kenji Sekiguchi, Yukihiro Yoneda, Yasufumi Kageyama, Riki Matsumoto, Dennis W. Dickson
Summary: This study compared the clinical characteristics and outcomes between later onset MSA (LO-MSA) and usual onset MSA (UO-MSA), finding that LO-MSA patients had shorter survival time. The results suggest that MSA should be considered as a differential diagnosis in elderly patients with autonomic symptoms and movement disorders.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Monika Chorazy, Natalia Wawrusiewicz-Kurylonek, Edyta Adamska-Patruno, Agata Czarnowska, Olga Zajkowska, Katarzyna Kapica-Topczewska, Renata Posmyk, Adam Jacek Kretowski, Jan Kochanowicz, Alina Kulakowska
Summary: Fc receptors have been found to be important in autoimmune diseases, and for the first time, a study investigated the relationship between single nucleotide variants in the FCRL5 gene and susceptibility to multiple sclerosis. The results showed significant differences in certain genotypes and alleles between multiple sclerosis patients and healthy controls, indicating a potential role of the FCRL5 locus in influencing multiple sclerosis predisposition.
FRONTIERS IN NEUROLOGY
(2021)
Article
Nutrition & Dietetics
Edyta Suliga, Waldemar Brola, Kamila Sobas, Elzbieta Ciesla, Elzbieta Jasinska, Katarzyna Goluch, Stanislaw Gluszek
Summary: Diet plays a significant role in the development of neurological diseases and can contribute to metabolic disorders in patients with MS. This study found that adherence to a Traditional Polish or Fast Food & Convenience Food diet increased the risk of abdominal obesity and low HDL-cholesterol concentration in MS patients.
Article
Clinical Neurology
Marco Puthenparampil, Marta Gaggiola, Alessandro Miscioscia, Valentina Annamaria Mauceri, Federica De Napoli, Giovanni Zanotelli, Mariagiulia Anglani, Margherita Nosadini, Stefano Sartori, Paola Perini, Francesca Rinaldi, Paolo Gallo
Summary: This study evaluated the efficacy and safety of alemtuzumab (ALZ) in pediatric-onset multiple sclerosis (POMS) and adult-onset multiple sclerosis (AOMS) patients undergoing treatment switch. The results showed that ALZ was more effective in AOMS patients compared to POMS patients after switching from natalizumab (NTZ). However, these findings may underestimate the effectiveness of ALZ in POMS patients.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
(2023)
Article
Medicine, General & Internal
Anna B. Marcinkowska, Sergiusz Jozwiak, Agnieszka Tarasewicz, Alicja Debska-Slizien, Edyta Szurowska
Summary: This study aimed to describe the neuropsychiatric profile of adults with Tuberous Sclerosis Complex (TSC) and found that TSC-associated neuropsychiatric disorders (TANDs) are common in adults with TSC and are often underdiagnosed. It revealed that most individuals with TSC present multiple behavioral and cognitive problems. Patients with intellectual disability and epilepsy had more neuropsychiatric problems than those without epilepsy. The study emphasizes the importance of wide dissemination and application of TAND screening for early identification, prevention, and rehabilitation of difficulties in TSC patients.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Anna Pokryszko-Dragan, Justyna Chojdak-Lukasiewicz, Ewa Gruszka, Marcin Pawlowski, Tomasz Pawlowski, Anna Rudkowska-Mytych, Joanna Rymaszewska, Slawomir Budrewicz
Summary: Patients with multiple sclerosis (MS) were expected to be particularly affected by the COVID-19 pandemic. A study in Poland aimed to evaluate the burden of the pandemic on MS patients, focusing on various contributing factors. The research found that stress levels were high among MS patients during the pandemic, with a preference for problem-solving coping strategies. Additionally, the study showed that the impact of the pandemic on social issues had a stronger relationship with stress and coping strategies than MS-related variables.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Clinical Neurology
Nuray Can Usta, Cavit Boz, Murat Terzi
Summary: This study compared the demographic, clinical, and magnetic resonance imaging features of early onset and adult onset multiple sclerosis patients. It found that the age of onset had an impact on patients reaching an EDSS score of six.
CLINICAL NEUROLOGY AND NEUROSURGERY
(2023)
Article
Multidisciplinary Sciences
Sarah Opie-Martin, Alfredo Iacoangeli, Simon D. Topp, Olubunmi Abel, Keith Mayl, Puja R. Mehta, Aleksey Shatunov, Isabella Fogh, Harry Bowles, Naomi Limbachiya, Thomas P. Spargo, Ahmad Al-Khleifat, Kelly L. Williams, Jennifer Jockel-Balsarotti, Taha Bali, Wade Self, Lyndal Henden, Garth A. Nicholson, Nicola Ticozzi, Diane McKenna-Yasek, Lu Tang, Pamela J. Shaw, Adriano Chio, Albert Ludolph, Jochen H. Weishaupt, John E. Landers, Jonathan D. Glass, Jesus S. Mora, Wim Robberecht, Philip Van Damme, Russell McLaughlin, Orla Hardiman, Leonard van den Berg, Jan H. Veldink, Phillippe Corcia, Zorica Stevic, Nailah Siddique, Vincenzo Silani, Ian P. Blair, Dong-sheng Fan, Florence Esselin, Elisa de la Cruz, William Camu, Nazli A. Basak, Teepu Siddique, Timothy Miller, Robert H. Brown, Ammar Al-Chalabi, Christopher E. Shaw
Summary: Superoxide dismutase (SOD1) gene variants can cause amyotrophic lateral sclerosis (ALS) and are associated with distinctive phenotypes and survival trajectories.
NATURE COMMUNICATIONS
(2022)
Article
Clinical Neurology
Akash Kapali, Anne Kjersti Daltveit, Kjell-Morten Myhr, Kjetil Bjornevik, Elisa Baldin, Maura Pugliatti, Trond Riise, Marianna Cortese
Summary: Previous studies have shown inconsistent results regarding the association between birth by caesarean section (CS) and the risk of developing multiple sclerosis (MS) in the offspring. This population-based cohort study found a modestly higher risk of MS in individuals born by CS, but confounding factors may underlie these associations.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Manuel Comabella, Mar Tintore, Augusto Sao Aviles, Pere Carbonell-Mirabent, Sunny Malhotra, Alex Rovira, Nicolas Fissolo, Jan D. Luenemann, Xavier Montalban
Summary: This study evaluated the impact of viral infections on multiple sclerosis (MS) disease progression and found that antibody responses against viruses at disease onset are associated with long-term disease outcomes. The results suggest that immune responses against human cytomegalovirus (HCMV) at early stages have protective effects on long-term disability and inflammation disease outcomes, and immune responses against Epstein-Barr virus (EBV) may influence long-term disease prognosis.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Immunology
Wanda Niepieklo-Miniewska, Lukasz Matusiak, Joanna Narbutt, Aleksandra Lesiak, Piotr Kuna, Andrzej Wisniewski, Karolina Piekarska, Izabela Nowak, Piotr Kusnierczyk
Summary: Endoplasmic reticulum aminopeptidases ERAP1 and ERAP2 trim peptides to a length optimal for binding by HLA class I molecules, and their synergistic effect may increase the risk of atopic dermatitis (AD). Specific genotypic combinations of ERAP2 and ERAP1 may contribute to the higher odds ratio for AD, showing a potential association between these enzymes and the development of the disease.
Review
Biochemistry & Molecular Biology
Maria Podbielska, Joan O'Keeffe, Anna Pokryszko-Dragan
Summary: Multiple sclerosis (MS) is a central nervous system disease characterized by immune-mediated inflammatory demyelination and progressive degeneration. Lipids are believed to play a key role in the immunopathogenesis of MS and are a promising area for investigation. Understanding lipid-related mechanisms may offer potential utility in predicting or monitoring the course of MS.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, General & Internal
Anna Pokryszko-Dragan, Justyna Chojdak-Lukasiewicz, Ewa Gruszka, Marcin Pawlowski, Tomasz Pawlowski, Anna Rudkowska-Mytych, Joanna Rymaszewska, Slawomir Budrewicz
Summary: Patients with multiple sclerosis (MS) were expected to be particularly affected by the COVID-19 pandemic. A study in Poland aimed to evaluate the burden of the pandemic on MS patients, focusing on various contributing factors. The research found that stress levels were high among MS patients during the pandemic, with a preference for problem-solving coping strategies. Additionally, the study showed that the impact of the pandemic on social issues had a stronger relationship with stress and coping strategies than MS-related variables.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Edyta Dziadkowiak, Agata Sebastian, Malgorzata Wieczorek, Anna Pokryszko-Dragan, Marta Madej, Marta Waliszewska-Prosol, Slawomir Budrewicz, Piotr Wiland, Maria Ejma
Summary: Visual evoked potentials (VEP) are changes in potentials in the central nervous system. The study aimed to assess the visual pathway function in pSS patients using VEP examination, finding correlations between VEP parameters abnormalities, anti-Ro52 antibodies, and joint pain. VEP may be a useful method for evaluating and monitoring subclinical visual deficits in pSS.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Immunology
Karolina Piekarska, Pawel Radwan, Agnieszka Tarnowska, Andrzej Wisniewski, Rafal Krasinski, Michal Radwan, Jacek R. Wilczynski, Andrzej Malinowski, Izabela Nowak
Summary: Male factors play an important role in infertility of couples. HLA-G gene polymorphisms in seminal plasma may influence the secretion of soluble HLA-G protein in semen and affect male fertility. The G-C-ins haplotype may reduce sperm parameters.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Karolina Piekarska, Pawel Radwan, Agnieszka Tarnowska, Michal Radwan, Jacek R. Wilczynski, Andrzej Malinowski, Izabela Nowak
Summary: This study aimed to assess the association of combined KIR genes and their HLA-C ligands, as well as ERAP1 and ERAP2 polymorphisms, with recurrent implantation failure after in vitro fertilization (RIF). The study found that in the combination of female ERAP1 and an HLA-C partner, the rs30187 C>T and rs27044 C>G polymorphisms played an important role in implantation failure.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Immunology
Pawel Radwan, Agnieszka Tarnowska, Karolina Piekarska, Andrzej Wisniewski, Rafal Krasinski, Michal Radwan, Izabela Nowak
Summary: sHLA-G secretion by the embryo is associated with implantation and live birth, and its concentration depends on the ovarian stimulation protocol used.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Anna Andrzejczak, Anna Partyka, Andrzej Wisniewski, Irena Porebska, Konrad Pawelczyk, Kuba Ptaszkowski, Piotr Kusnierczyk, Monika Jasek, Lidia Karabon
Summary: This study aimed to analyze the impact of BTLA polymorphic variants on the susceptibility to non-small cell lung cancer (NSCLC) and NSCLC patients' overall survival (OS). The results showed that the rs1982809 variant within the BTLA gene is associated with NSCLC risk. Furthermore, BTLA polymorphic variants are associated with smoking history, gender, tumor type, and disease stage in NSCLC.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Oncology
Marta Wagner, Maciej Sobczynski, Monika Jasek, Konrad Pawelczyk, Irena Porebska, Piotr Kusnierczyk, Andrzej Wisniewski
Summary: ERAP1 is a critical aminopeptidase involved in antigen peptide editing and its down-regulation is commonly observed in non-small cell lung cancer (NSCLC). Here, we investigated ERAP1 mRNA levels in tissue samples from 61 NSCLC patients and found significantly lower expression in tumor tissue compared to non-tumor tissue. Moreover, the rs26653 polymorphism was associated with ERAP1 expression in non-tumor tissue.
Article
Oncology
Nafeesa Moksud, Marta Wagner, Konrad Pawelczyk, Irena Porebska, Beata Muszczynska-Bernhard, Aneta Kowal, Andrzej Wisniewski, Monika Kosacka, Julia Konczak, Pawel Karpinski, Dominik Frydryk, Anna Andrzejczak, Lidia Karabon, Piotr Kusnierczyk, Monika Jasek
Summary: This study found that single nucleotide polymorphisms (SNPs) of PDCD1, CD274, and HAVCR2 genes are associated with the risk and outcomes of non-small cell lung cancer (NSCLC) subtypes, including squamous cell lung cancer (LUSC) and lung adenocarcinoma (LUAD). Specific genotypes of rs4143815 and rs4742098 were associated with increased risk of developing LUSC. Additionally, rs4143815 was found to be an independent predictor of the age at diagnosis of LUAD, and rs10057302 was associated with overall survival in LUSC. Furthermore, NSCLC carriers of rs11568821 had a higher risk of death compared to carriers of CC genotype.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2023)
Meeting Abstract
Psychiatry
M. Pawlowski, K. Fila-Witecka, M. Luc, A. Senczyszyn, J. Rymaszewska, E. Pawlowska, D. Kaminska, P. Poznanski, M. Krajewska, A. Stefaniak, J. Szepietowski, A. Pokryszko-Dragan, S. Budrewicz, T. Pawlowski, J. Rymaszewska
EUROPEAN PSYCHIATRY
(2021)
Article
Education & Educational Research
Anna Pokryszko-Dragan, Karol Marschollek, Marta Nowakowska-Kotas, Gillian Aitken
Summary: During the SARS-CoV-2 pandemic in 2020, Polish medical faculties shifted to online teaching, which was perceived by students to bring benefits such as increased convenience and quality, as well as safety. However, students also encountered issues like unsatisfactory content, technical problems, and challenges with engagement and social interactions. The transition to online education highlighted the need for more self-directed learning and discipline, with some students experiencing negative impacts on their studies.
BMC MEDICAL EDUCATION
(2021)
