scholarly journals Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)—An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA)

2021 ◽  
Vol 12 ◽  
Author(s):  
Ivan Karin ◽  
Boriana Büchner ◽  
Florence Gauzy ◽  
Angelika Klucken ◽  
Thomas Klopstock
Keyword(s):  
Clinical Care ◽  
Iron Accumulation ◽  
University Hospital ◽  
The European Union ◽  
Brain Iron ◽  
Childhood Onset ◽  
Double Blind ◽  
Patient Organizations ◽  
Research Activities ◽  
Set Up

In order to improve clinical care, coordinate research activities and raise awareness for the ultra-orphan Neurodegeneration with Brain Iron Accumulation (NBIA) disorders, a group of NBIA clinicians and researchers, industry partners and patient advocacies from six European countries, Canada and the US joined forces in 2010 to set-up the collaborative initiative TIRCON (Treat Iron-Related Childhood-Onset Neurodegeneration). As a research project, TIRCON received funding in the 7th Framework Programme (FP7) of the European Union (EU) from 2011 to 2015. After successful and timely completion of the initial FP7 project, funding and donations from industry and patient organizations have sustained the further development of TIRCON's dedicated clinical research infrastructure and its governance architecture, as well as the ongoing efforts undertaken in the NBIA community to establish a network of care. From the beginning, the University Hospital of the Ludwig-Maximilians-University in Munich, Germany has been coordinating the TIRCON initiative. It consists of 8 work packages, of which the first double-blind, placebo-controlled, randomized, multi-site clinical trial in NBIA (deferiprone in PKAN, completed) and a global patient registry and biobank, currently comprising baseline and follow-up data of > 400 NBIA patients have gained particular importance. Here we describe TIRCON's history with all the challenges and achievements in diagnosing and treating NBIA. Today, TIRCON lays the ground for future clinical care and research. In these times, it may also serve as a good example of well-directed governmental funding and fruitful international scientific collaboration.

scholarly journals Access to Ethics Committees in Bulgaria – Possibility or Probability

2019 ◽  
Vol 46 (3) ◽  
pp. 29-33
Author(s):  
N. Gradinarova
Keyword(s):  
Ethics Committees ◽  
Legal Framework ◽  
Healthcare Systems ◽  
The European Union ◽  
Key Factors ◽  
Medical Specialists ◽  
Patient Organizations ◽  
Hospital Patients ◽  
Set Up ◽  
The Eu

Abstract The study of the legal framework regulating the activities of the Ethics Committees in the Member States of the European Union outlines several key factors forming the basis of the activity of the Ethics Committees. Compliance with the ethical principles of behaviour by physicians, patients, patients relatives, patient organizations and by the society as a whole requires professionals dealing with medical ethics and law to form, defend and bring to the knowledge and implementation an ethical code of behaviour of all participants in clinical trials as well as in the provision of medical services in general. The modern legal framework in Bulgaria, regulating the nature, functions and powers of the ethics committees, is complex and multi-layered, including both constitutional law and a number of acts at the law and bylaw level. Ethical committees set up in medical establishments aim to help physicians and other medical and non-medical specialists in the hospital, patients and their families coping with the ethical and legal dilemmas they face in everyday life. The results of a survey conducted among 149 medical specialists and 269 patients working and being treated in three different medical establishments in the country show that there is a low level of awareness of the types of ethical committees and their functions. 51% of the questioned medical specialists and 62.5% of the questioned patients replied that they were not aware when issues could be referred to the ethics committees in the country. The analysis of the regulation of the activities of ethics committees in the healthcare systems within the EU and in the health system in Bulgaria shows that there is a need to optimize the activity of the ethics committees operating on the territory of the country.

scholarly journals comportamento de busca de informação dos profissionais médicos em um Hospital Universitário Público Brasileiro

2014 ◽  
Vol 8 (1/2) ◽  
Author(s):  
Marcelo Novaes MACHADO ◽  
Ricardo Rodrigues BARBOSA
Keyword(s):  
Information Search ◽  
Information Needs ◽  
Clinical Care ◽  
Professional Role ◽  
University Hospital ◽  
Medical Professionals ◽  
Sources Of Information ◽  
Teaching And Research ◽  
Care Teaching ◽  
Research Activities

This paper describes the information-seeking behavior of medical professionals at a public university hospital, according to the different roles that professionals can take on these institutions, namely physician and teacher, as well as to major tasks associated with them, which are clinical care, teaching and research. The research was conducted at the Hospital of the Federal University of Minas Gerais (HC/UFMG), by applying an electronic questionnaire to medical professionals who have there their clinical care, teaching and research activities. The main information needs of these professionals and the influence of contextual factors, the professional role and the activity performed in the emergence of these needs and in the information search process configuration were identified. The results also show the sources of information most used, electronic sources, the influence of the characteristics of these sources and prior knowledge about them in choosing a particular source, besides the problems commonly encountered by medical professionals in their quest for information. Besides obtaining a profile of activity of medical professionals at the institution, it was also characterized the influence of the professional role and the activity performed in the information retrieval process of these professional setting.

Organization of Hospital for Extrahospital Emergencies

1985 ◽  
Vol 1 (3) ◽  
pp. 284-285
Author(s):  
E. Tresalti ◽  
G. Rossi ◽  
P. Contegiacomo
Keyword(s):  
Clinical Care ◽  
University Hospital ◽  
Treatment Center ◽  
Second Phase ◽  
Transfusion Center ◽  
Technological Level ◽  
Subsequent Phase ◽  
Set Up ◽  
The University ◽  
Gastro Intestinal Tract

In the last few years various departments of the University Hospital “A. Gemelli” have been engaged in dealing with disasters of different kinds: the earthquakes of Belice, Friuli and Irpinia, the fire of the Todi antique exhibition, and various terrorist attacks. In these events the organization of the care of the survivors took the following four aspects into account: 1) Type and kind of lesions related to the nature of the event. 2) Criteria and collection areas of the injured, casualty clearing and treatments. 3) Distance of the disaster from the treatment center. 4) New structures to be set up for improving efficiency in the future.1) The most frequent clinical problems encountered burns and crushing injuries, and those affecting the musculoskeletal, cardiorespiratory and neuro-muscular systems. In a second phase, together with the possible lack of water, food, clothing, shelter and toilet facilities, infectious diseases of the respiratory and gastro-intestinal tract appear, particularly in old people and children. The treatment of the injured in the emergency phase requires a series of interventions at a very high technological level. In the subsequent phase, which may last for months, the treatment needed comes under normal preventive and clinical care.2) In the emergency period, which in our experience does not generally last longer than ten days, the medical and surgical departments of our hospital mostly concerned were the intensive care units (18 beds), the orthopedics and traumatology sections (122 beds), the surgical wards (309 beds), the transfusion center and the hemodialysis service.

Neurodegeneration with brain iron accumulation type 4 by mutation in the C19orf12 gene: first time found in adolescent of Russian origin

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
E Giagkou ◽  
S Lutz ◽  
U Schara ◽  
K Becker ◽  
C Möller-Hartmann
Keyword(s):  
Iron Accumulation ◽  
Brain Iron ◽  
First Time

Psychotic Disorder in Neurodegeneration with Brain Iron Accumulation

2016 ◽  
Vol 10 (3) ◽  
pp. 178-180
Author(s):  
Menekse Sila Yazar ◽  
Nurhan Fistikci ◽  
Ozlem Devrim Balaban ◽  
Nezih Eradamlar ◽  
Latif Alpkan
Keyword(s):  
Psychotic Disorder ◽  
Iron Accumulation ◽  
Brain Iron

scholarly journals COVID-19 does not stop obstetrics: what we need to change to go on safely birthing. The experience of a University Obstetrics and Gynecology Department in Milan

2020 ◽  
Vol 48 (9) ◽  
pp. 997-1000
Author(s):  
Nikita Alfieri ◽  
Stefano Manodoro ◽  
Anna Maria Marconi
Keyword(s):  
Health System ◽  
University Hospital ◽  
Obstetrics And Gynecology ◽  
Daily Routine ◽  
Clinical Services ◽  
Wuhan City ◽  
Set Up

AbstractSince SARS-COV-2 appeared in Wuhan City, China and rapidly spread throughout Europe, a real revolution occurred in the daily routine and in the organization of the entire health system. While non-urgent clinical services have been reduced as far as possible, all kind of specialists turned into COVID-19 specialists. Obstetric assistance cannot be suspended and, at the same time, safety must be guaranteed. In addition, as COVID-19 positive pregnant patients require additional care, some of the clinical habits need to be changed to face emerging needs for a vulnerable but unstoppable kind of patients. We report the management set up in an Obstetrics and Gynecology Unit during the COVID-19 era in a University Hospital in Milan, Italy.

scholarly journals The profile of vulnerable students using the university psychosocial and medical care services

2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
M Papadakaki ◽  
F Sarakatsianou ◽  
V Tsismeli ◽  
G Lapidakis ◽  
M Karapiperaki
Keyword(s):  
Higher Education ◽  
Family Income ◽  
Psychosocial Support ◽  
Academic Progress ◽  
Health Examination ◽  
The European Union ◽  
Psychosocial Needs ◽  
Development Education ◽  
Medical Unit ◽  
Set Up

Abstract Background Increasing the capacity of higher education institutes to address students' vulnerabilities has been deemed necessary due to the financial crisis. Multilevel interventions have thus been initiated at the Hellenic Mediterranean University of Crete, as part of a project co-financed by Greece and the European Union (European Social Fund-ESF) through the Operational Programme <<Human Resources Development, Education and Lifelong Learning 2014- 2020 >> (MIS 5045937). The project aims to offer support to students with low family income or a certified disability, monitor their bio-psychosocial needs, increase their accessibility to health and psychosocial care, and improve their academic outcomes. Methods As part of the project, a primary health care unit has been set up to offer medical and nursing care (medical unit) as well as psychosocial support (counseling centre) to students in need. An observatory has also been set up to monitor their health and psychosocial needs and their academic progress. Results A total of 228 eligible students used the services in the second half of 2019 (counseling centre 37; medical unit 191). Out of the 37 individuals who used the counseling centre, 30 (81.0%) were female and 16 (43.2%) were at the first 2 years of their studies. A total of 36 (97.3%) requested psychological support, 6 (16.2%) warranted social welfare services and 1 (2.7%) support for learning disabilities. As for the 191 individuals who used the medical services, 101 (52.8%) were male and 88 (46.0%) were at first 2 years of their studies. Most of them had a health examination to receive a health certificate (74.8%) followed by those who received emergency care (e.g. respiratory infection, allergic reaction, injury, etc), chronic disease management and medicine subscription, as well as vaccination. Conclusions Complex bio-psychosocial needs have been identified, recorded and analyzed to explain the academic progress of socially vulnerable students. Key messages The students’ journey through medical and counseling services is being mapped to offer important information for educational policy. Assessment and monitoring of students’ complex needs are important to achieve quality in higher education.

scholarly journals Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation

Neurogenetics ◽  
2021 ◽  
Author(s):  
Chiara Cavestro ◽  
Celeste Panteghini ◽  
Chiara Reale ◽  
Alessia Nasca ◽  
Silvia Fenu ◽  
...  
Keyword(s):  
Early Onset ◽  
Cerebellar Atrophy ◽  
Iron Accumulation ◽  
Brain Iron ◽  
Causative Gene ◽  
Coding Regions ◽  
Aberrant Transcript ◽  
Pathogenic Variants ◽  
Intronic Mutation ◽  
Mrna Analysis

AbstractPLA2G6 is the causative gene for a group of autosomal recessive neurodegenerative disorders known as PLA2G6-associated neurodegeneration (PLAN). We present a case with early-onset parkinsonism, ataxia, cognitive decline, cerebellar atrophy, and brain iron accumulation. Sequencing of PLA2G6 coding regions identified only a heterozygous nonsense variant, but mRNA analysis revealed the presence of an aberrant transcript isoform due to a novel deep intronic variant (c.2035-274G > A) leading to activation of an intronic pseudo-exon. These results expand the genotypic spectrum of PLAN, showing the paramount importance of detecting possible pathogenic variants in deep intronic regions in undiagnosed patients.

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