Ehlers-Danlos Syndrome - living with chronic pain. Current knowledge of the disease

Ehlers Danlos Syndrome (EDS) is a group of the most common inherited connective tissue disorders. The main symptoms of this syndrome are excessive skin flexibility, joint hypermobility and blood vessels fragility. The diagnosis is based on clinical symptoms, but to confirm the type of EDS, it is necessary to identify the collagen-encoding gene or protein interacting with it. The group of Ehlers and Danlos diseases include fourteen types, the most common are classic, vascular, hypermobile, arthrochalasis, kyphoscoliotic and dermatosparaxis. [15] Connective tissue plays a key role in the process of movement, constituting the main component of bones, joint cartilage, tendons, ligaments and intervertebral discs. In addition, connective tissue is a part of every internal organ including the intestines and parenchymal organs and the cardiovascular system.[19] For this reason, patients with EDS show symptoms of many diseases, including respiratory, muscular, skeletal and vascular. Women suffering from EDS often struggle with complications during their pregnancies. Psychological and emotional issues are also common.[6] However, the most noticeable and debilitating symptom of EDS is pain, which is often severe and chronic. The pain occurs in approximately 90% or more of EDS patients.[8] Successful pain management in patients with EDS is a major challenge for specialists. The treatment involves non-steroidal anti-inflammatory drugs, acetaminophen, opioids and physiotherapy. Also marijuana, traditional chinese treatments, herbal remedies are considered to reduce the severity of the symptoms. [9] During the creation of this article, the authors analyzed the clinically relevant knowledge of EDS treatment and management based on research published on Pubmed

The Anatomical variations of artery of angular gyrus

Context: Angular gyrus is an anatomical structure of the brain located in the parietal lobe, taking part in writing and reading, language-use, memory and attention and spatial recognition. It is supplied by the angular gyrus artery, which is one of the caudal branches of the middle cerebral artery. One of the clinical pathologies of the angular gyrus artery is the ischemic stroke of the angular gyrus in the dominant hemisphere, responsible for the presence of Gerstmann Syndrome: left-right disorientation, agraphia, alexia, acalculia and finger agnosia. This systematic review aims to present the variety of anomalies of the main cerebral artery and the angular gyrus artery. Objective: Preparing a systematic review of papers describing the course anomalies of the angular gyrus artery. Materials and methods: PubMed and Google Scholar electronic databases was searched for phrases: ‘Angular gyrus artery’, ‘Artery of angular gyrus’, ‘Middle cerebral artery branches’, ‘Branches of middle cerebral artery’, ‘Gerstmann Syndrome’ published between years 2015 and 2023. Also 3 papers published before 2000 were used. From the selected 30 papers, 6 were used to prepare this analysis. Results: The middle cerebral artery, from which arises the angular gyrus artery, is marked by a significant variety of its division, mainly the number of the dividing trunks of the artery. Depending on the type of the division, the angular gyrus artery can arise from the upper, middle or lower trunk and vary in sizes. It can also appear as a singular or two separate branches. Instances of the anomaly of both the angular gyrus artery and posterior parietal artery are rare, but reported. Conclusions: The angular gyrus artery is characterised by a number of anomalies in its course, separation from the middle cerebral artery, diameter and branching

The war continues not only on the front: a broader look at PTSD in the context of the Russian invasion and its impact on Ukrainian citizens – systematic rewiev

Russia's aggression against Ukraine is undoubtedly a tragic event that will bring various, often difficult to predict, consequences at many levels of functioning. Certainly, the mental health of war victims faces many challenges. The mental health crisis that occurs during war is a public health problem.28 One of the main disorders that appear in people directly or indirectly related to war is PTSD. It arises as a result of experiencing extremely dangerous, terrifying events that go beyond one's ability to cope and is manifested by symptoms such as: obsessive, persistent re-experiencing of traumatic events, avoidance of factors causing a "return" to traumatic memories, excessive arousal and a sense of constant threats.8, 10 Many factors influence the occurrence of PTSD. It is extremely important to look at the reasons that make it difficult to obtain support. mental health and improving the support system. Ukrainian children and youth deserve special attention here. A developing young society must face particularly great challenges, and it is their mental well-being that guarantees better development of the entire nation. Every effort must be made to ensure that citizens of a country at war receive adequate support. We have many methods of help, from basic emergency support, through a wide range of psychotherapy, to medications in the most severe cases. Additionally, the knowledge of the existence of a phenomenon such as post-traumatic growth may give hope and motivation to act to people in mental crisis struggling with symptoms of PTSD. However, the war continues and there will be more and more victims struggling with post-traumatic stress disorder (PTSD) and other mental health disorders. We cannot determine at this point how much damage this conflict will cause. However, it is worth acting now to prevent and limit the tragic consequences of the situation in which Ukraine finds itself.

The Anatomical variations of artery of angular gyrus

Context: Angular gyrus is an anatomical structure of the brain located in the parietal lobe, taking part in writing and reading, language-use, memory and attention and spatial recognition. It is supplied by the angular gyrus artery, which is one of the caudal branches of the middle cerebral artery. One of the clinical pathologies of the angular gyrus artery is the ischemic stroke of the angular gyrus in the dominant hemisphere, responsible for the presence of Gerstmann Syndrome: left-right disorientation, agraphia, alexia, acalculia and finger agnosia. This systematic review aims to present the variety of anomalies of the main cerebral artery and the angular gyrus artery. Objective: Preparing a systematic review of papers describing the course anomalies of the angular gyrus artery. Materials and methods: PubMed and Google Scholar electronic databases was searched for phrases: ‘Angular gyrus artery’, ‘Artery of angular gyrus’, ‘Middle cerebral artery branches’, ‘Branches of middle cerebral artery’, ‘Gerstmann Syndrome’ published between years 2015 and 2023. Also 3 papers published before 2000 were used. From the selected 30 papers, 6 were used to prepare this analysis. Results: The middle cerebral artery, from which arises the angular gyrus artery, is marked by a significant variety of its division, mainly the number of the dividing trunks of the artery. Depending on the type of the division, the angular gyrus artery can arise from the upper, middle or lower trunk and vary in sizes. It can also appear as a singular or two separate branches. Instances of the anomaly of both the angular gyrus artery and posterior parietal artery are rare, but reported. Conclusions: The angular gyrus artery is characterised by a number of anomalies in its course, separation from the middle cerebral artery, diameter and branching

Variability of the origin and course of the uterine artery in clinical practice

In 2020, approximately 287,000 mothers died during pregnancy or childbirth, with one of the leading causes of maternal mortality being peripartum hemorrhage. It can be treated both pharmacologically and procedurally, for example, through uterine artery ligation, embolization, or hysterectomy. In case of procedural treatment, it is essential for the medical team to familiarize themselves with the anatomical structure of the patient's uterine arteries. Various variations in the course of this vessel are distinguished, such as the uterine artery branching as a bifurcation with the inferior gluteal artery, a common trunk of the uterine artery with another vessel, or even its duplication. Using radiological techniques such as angiography, it is possible to visualize vessels and their variations, which can allow for better patient care. Unfamiliarity with the departure and trajectory of the uterine artery may be associated with an increased risk of postoperative complications, especially after hysterectomy, where the uterine arteries close at the level of the uterus or at the beginning of their departure from the internal iliac artery. Ligating them in other place may result in ischemia of an area that should be continuously supplied with blood. Also, during surgery, special attention should be paid to possible anatomical variations of the patient's uterine artery, which, although rare, can cause intraoperative complications. A thorough analysis of the departure and trajectory of the uterine artery by physicians can prevent postoperative complications and also allow for the safe conduct of embolization procedures. The following article presents a literature review on the departure and course of the uterine artery and its variations, as well as procedural interventions related to this vessel

Interactive effects of mGlu5 and 5-HT2A receptors on locomotor activity in mice

RationaleMetabotropic glutamate (mGlu) receptors have been suggested to play a role in neuropsychiatric disorders including schizophrenia, drug abuse, and depression. Because serotonergic hallucinogens increase glutamate release and mGlu receptors modulate the response to serotonin (5-HT)(2A) activation, the interactions between serotonin 5-HT(2A) receptors and mGlu receptors may prove to be important for our understanding of these diseases.ObjectiveWe tested the effects of the serotonergic hallucinogen and 5-HT(2A) agonist, 2,5-dimethoxy-4-methylamphetamine (DOM), and the selective 5-HT(2A) antagonist, M100907, on locomotor activity in the mouse behavioral pattern monitor (BPM) in mGlu5 wild-type (WT) and knockout (KO) mice on a C57 background.ResultsBoth male and female mGlu5 KO mice showed locomotor hyperactivity and diminished locomotor habituation compared with their WT counterparts. Similarly, the mGlu5-negative allosteric modulator 2-methyl-6-(phenylethynyl)pyridine (MPEP) also increased locomotor hyperactivity, which was absent in mGlu5 KO mice. The locomotor hyperactivity in mGlu5 receptor KO mice was potentiated by DOM (0.5 mg/kg, subcutaneously (SC)) and attenuated by M100907 (1.0 mg/kg, SC). M100907 (0.1 mg/kg, SC) also blocked the hyperactivity induced by MPEP.ConclusionsThese studies demonstrated that loss of mGlu5 receptor activity either pharmacologically or through gene deletion leads to locomotor hyperactivity in mice. Additionally, the gene deletion of mGlu5 receptors increased the behavioral response to the 5-HT(2A) agonist DOM, suggesting that mGlu5 receptors either mitigate the behavioral effects of 5-HT(2A) hallucinogens or that mGlu5 KO mice show an increased sensitivity to 5-HT(2A) agonists. Taken together, these studies indicate a functional interaction between mGlu5 and 5-HT(2A) receptors

Ehlers-Danlos Syndrome - living with chronic pain. Current knowledge of the disease

OLSZAK, Joanna, KAPŁAN, Wojciech, RACHWAŁ, Dominika, PIĄTEK, Ewa, ZALEWA, Karolina, BARTOSZEK, Lidia, CZELEJ, Magdalena, STACHOWICZ, Hubert and MAZUREK, Joanna. Ehlers-Danlos Syndrome - living with chronic pain. Current knowledge of the disease. Journal of Education, Health and Sport. 2023;19(1):158-169. eISSN 2391-8306. http://dx.doi.org/10.12775/JEHS.2023.19.01.015 https://apcz.umk.pl/JEHS/article/view/45798 https://zenodo.org/record/8349787 The journal has had 40 points in Ministry of Education and Science of Poland parametric evaluation. Annex to the announcement of the Minister of Education and Science of 17.07.2023 No. 32318. Has a Journal's Unique Identifier: 201159. Scientific disciplines assigned: Physical Culture Sciences (Field of Medical sciences and health sciences); Health Sciences (Field of Medical Sciences and Health Sciences). Punkty Ministerialne z 2019 - aktualny rok 40 punktów. Załącznik do komunikatu Ministra Edukacji i Nauki z dnia 17.07.2023 Lp. 32318. Posiada Unikatowy Identyfikator Czasopisma: 201159. Przypisane dyscypliny naukowe: Nauki o kulturze fizycznej (Dziedzina nauk medycznych i nauk o zdrowiu); Nauki o zdrowiu (Dziedzina nauk medycznych i nauk o zdrowiu). © The Authors 2023; This article is published with open access at Licensee Open Journal Systems of Nicolaus Copernicus University in Torun, Poland Open Access. This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author (s) and source are credited. This is an open access article licensed under the terms of the Creative Commons Attribution Non commercial license Share alike. (http://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non commercial use, distribution and reproduction in any medium, provided the work is properly cited. The authors declare that there is no conflict of interests regarding the publication of this paper. Received: 19.08.2023. Revised: 15.09.2023. Accepted: 15.09.2023. Published: 19.09.2023. Ehlers-Danlos Syndrome - living with chronic pain. Current knowledge of the disease Joanna Olszak1, Wojciech Kapłan2, Dominika Rachwał1, Ewa Piątek3, Karolina Zalewa1, Lidia Bartoszek1, Magdalena Czelej4, Hubert Stachowicz2, Joanna Mazurek2 1Medical University of Warsaw, Faculty of Medicine, Warsaw, Poland 2Medical University of Lublin, Faculty of Medicine, Lublin, Poland 3Medical University of Lublin, Faculty of Dentistry, Lublin, Poland 4Samodzielny Publiczny Szpital Kliniczny SPSK4 w Lublinie, Polska Joanna Olszak ORCID: 0009-0004-0211-1449 E-mail: [email protected] Wojciech Kapłan ORCID: 0000-0003-2270-0318 E-mail: [email protected] Dominika Rachwał ORCID: 0009-0001-9104-0459 E-mail: [email protected] Ewa Piątek ORCID: 0009-0000-9051-5777 E-mail: [email protected] Karolina Zalewa ORCID: 0009-0004-0610-6866 E-mail: [email protected] Lidia Bartoszek ORCID: 0009-0000-1656-7325 E-mail: [email protected] Magdalena Czelej ORCID: 0000-0002-3717-4261 E-mail: [email protected] Hubert Stachowicz ORCID: 0009-0003-5906-1350 E-mail: [email protected] Joanna Mazurek ORCID: 0009-0005-0300-7798 E-mail: [email protected] Abstract Ehlers Danlos Syndrome (EDS) is a group of the most common inherited connective tissue disorders. The main symptoms of this syndrome are excessive skin flexibility, joint hypermobility and blood vessels fragility. The diagnosis is based on clinical symptoms, but to confirm the type of EDS, it is necessary to identify the collagen-encoding gene or protein interacting with it. The group of Ehlers and Danlos diseases include fourteen types, the most common are classic, vascular, hypermobile, arthrochalasis, kyphoscoliotic and dermatosparaxis. [15] Connective tissue plays a key role in the process of movement, constituting the main component of bones, joint cartilage, tendons, ligaments and intervertebral discs. In addition, connective tissue is a part of every internal organ including the intestines and parenchymal organs and the cardiovascular system.[19] For this reason, patients with EDS show symptoms of many diseases, including respiratory, muscular, skeletal and vascular. Women suffering from EDS often struggle with complications during their pregnancies. Psychological and emotional issues are also common.[6] However, the most noticeable and debilitating symptom of EDS is pain, which is often severe and chronic. The pain occurs in approximately 90% or more of EDS patients.[8] Successful pain management in patients with EDS is a major challenge for specialists. The treatment involves non-steroidal anti-inflammatory drugs, acetaminophen, opioids and physiotherapy. Also marijuana, traditional chinese treatments, herbal remedies are considered to reduce the severity of the symptoms. [9] During the creation of this article, the authors analyzed the clinically relevant knowledge of EDS treatment and management based on research published on Pubmed. Keywords: Ehlers-Danlos syndrome, chronic pain, joint hypermobility, multidisciplinary therapy Abstrakt Zespół Ehlersa Danlosa (EDS) to grupa najczęstszych dziedzicznych chorób tkanki łącznej. Głównymi objawami tego zespołu są nadmierna elastyczność skóry, nadmierna ruchomość stawów oraz kruchość naczyń krwionośnych. Rozpoznanie stawia się na podstawie objawów klinicznych, jednak w celu potwierdzenia typu EDS konieczne jest zidentyfikowanie genu kodującego kolagen lub białka wchodzącego z nim w interakcję. Grupa chorób Ehlersa i Danlosa obejmuje czternaście typów, z których najczęstsze to typ klasyczny, naczyniowy, hipermobilny, artrochalasis, kifoskoliotyczny i dermatosparaksja. [15] Tkanka łączna odgrywa kluczową rolę w procesie ruchu, stanowiąc główny składnik kości, chrząstki stawowej, ścięgien, więzadeł i krążków międzykręgowych. Ponadto tkanka łączna jest częścią każdego narządu wewnętrznego, w tym jelit i narządów miąższowych oraz układu sercowo-naczyniowego.[19] Z tego powodu pacjenci z EDS wykazują objawy wielu chorób, w tym układu oddechowego, mięśniowego, kostnego i naczyniowego. Kobiety cierpiące na EDS często borykają się z powikłaniami podczas ciąży. Częste są również problemy psychologiczne i emocjonalne.[6] Jednak najbardziej zauważalnym i osłabiającym objawem EDS jest ból, który często jest ciężki i przewlekły. Ból występuje u około 90% lub więcej pacjentów z EDS.[8] Skuteczne leczenie bólu u pacjentów z EDS jest dużym wyzwaniem dla specjalistów. W leczeniu stosuje się niesteroidowe leki przeciwzapalne, paracetamol, opioidy oraz fizjoterapię. Uważa się, że marihuana, tradycyjne chińskie metody leczenia, leki ziołowe zmniejszają nasilenie objawów. [9] Podczas tworzenia tego artykułu autorzy przeanalizowali klinicznie istotną wiedzę na temat leczenia i zarządzania EDS na podstawie badań opublikowanych w Pubmed. Słowa kluczowe: Zespół Ehlersa-Danlosa, ból przewlekły, nadmierna ruchomość stawów, terapia wielodyscyplinarn

Imputation of high-density genotypes in the Fleckvieh cattle population

BACKGROUND: Currently, genome-wide evaluation of cattle populations is based on SNP-genotyping using ~ 54 000 SNP. Increasing the number of markers might improve genomic predictions and power of genome-wide association studies. Imputation of genotypes makes it possible to extrapolate genotypes from lower to higher density arrays based on a representative reference sample for which genotypes are obtained at higher density. METHODS: Genotypes using 639 214 SNP were available for 797 bulls of the Fleckvieh cattle breed. The data set was divided into a reference and a validation population. Genotypes for all SNP except those included in the BovineSNP50 Bead chip were masked and subsequently imputed for animals of the validation population. Imputation of genotypes was performed with Beagle, findhap.f90, MaCH and Minimac. The accuracy of the imputed genotypes was assessed for four different scenarios including 50, 100, 200 and 400 animals as reference population. The reference animals were selected to account for 78.03%, 89.21%, 97.47% and > 99% of the gene pool of the genotyped population, respectively. RESULTS: Imputation accuracy increased as the number of animals and relatives in the reference population increased. Population-based algorithms provided highly reliable imputation of genotypes, even for scenarios with 50 and 100 reference animals only. Using MaCH and Minimac, the correlation between true and imputed genotypes was > 0.975 with 100 reference animals only. Pre-phasing the genotypes of both the reference and validation populations not only provided highly accurate imputed genotypes but was also computationally efficient. Genome-wide analysis of imputation accuracy led to the identification of many misplaced SNP. CONCLUSIONS: Genotyping key animals at high density and subsequent population-based genotype imputation yield high imputation accuracy. Pre-phasing the genotypes of the reference and validation populations is computationally efficient and results in high imputation accuracy, even when the reference population is small