Karl Landsteiner Research Articles

The role of institutional ethics committees in Austria : Report of the Commission on Ethics and Scientific Integrity of the Karl Landsteiner University of Health Sciences 2018-2023.

Research involving human subjects or identifiable human material and data must be assessed by an ethics committee. The Karl Landsteiner University of Health Sciences has established a Commission on Ethics and Scientific Integrity to evaluate medical research conducted by its faculty and students and at its affiliated hospitals.All projects submitted to the Commission on Ethics and Scientific Integrity between 2018 and 2023 were analyzed regarding their major characteristics, the duration of the evaluation process, and votes issued.A total of 520 applications were electronically submitted during the observation period. Most of the studies were retrospective data analyses in the field of oncology, psychology and surgery. Most studies included less than 100 volunteers. Of the applications 50% received afinal vote within 5months, during which several revision rounds took place. Overall, about 77% of votes issued during the observation period were positive and 2% were rejections. In 11% files were closed due to withdrawal. In 11% final votes were pending at the end of the observation period due to requests for revisions.Our results emphasize the importance of institutional ethics committees using the example of the Commission on Ethics and Scientific Integrity at the Karl Landsteiner University. Such committees fill agap in evaluating research not covered by Austrian legal regulations. Continuous development of standards, operating procedures, and national and international collaborations are required to assess and minimize risks to trial subjects and to provide asafe and productive environment for research in human medicine and related fields.

Karl Landsteiner (1868-1943): A Versatile Blood Scientist.

Karl Landsteiner (1868-1943) was an Austrian-American biologist, physician, and immunologist whose groundbreaking discoveries revolutionized the fields of transfusion medicine, immunology, and virology. His most famous work was the identification of the ABO blood group system in 1901, which explained the causes of transfusion reactions and laid the foundation for safe blood transfusions. This discovery earned him the Nobel Prize in Physiology or Medicine in 1930. Landsteiner continued his research, identifying the MN and P blood group system in 1927 and the Rh blood group system in 1940, which addressed the complexities of the Hemolytic Disease of the Fetus and Newborn (HDFN). His work on the poliovirus in 1908, in collaboration with Erwin Popper, established the infectious nature of the disease and laid the groundwork for future vaccine development. Landsteiner's versatility as a scientist is evident in the breadth of his work, spanning hematology, immunology, and virology. His ability to navigate diverse fields and see connections between them allowed him to make pioneering discoveries that have had a lasting impact on medical practice, particularly in blood transfusion, organ transplantation, and immunotherapy. Landsteiner's legacy as the "Father of Transfusion Medicine" is reinforced by the standardization of blood typing procedures, which have saved millions of lives worldwide.

The Landsteiner lung cancer research platform (LALUCA) : Objectives, methodology and implementation of areal-world clinical lung cancer registry.

Lung cancer is amajor health burden in Austria; however, limited real-world data exist on the diagnostic and treatment reality of lung cancer patients in Austria. The collection of high-quality data in aclinical setting is needed to gain insights into the real-world diagnostic and therapeutic management of lung cancer patients. The Karl Landsteiner Institute for Lung Research and Pulmonary Oncology implemented the Landsteiner lung cancer research platform (LALUCA), recruiting unselected lung cancer patients from two high volume centers in Vienna. This article describes the objectives, design, methodology of the registry and the process of implementation. Amultidisciplinary team of lung cancer specialists created acustom designed variable catalogue for the LALUCA platform consisting of 17categories with 180 variables. Detailed information on clinical characteristics, diagnostic interventions, molecular pathology as well as curative and palliative treatment modalities are collected. During an implementation phase in 2020, the platform was optimized using the data of 50patients. Since then atotal of 1200 patients have been enrolled. Recruitment for the registry is ongoing with arecruitment rate of approximately 400 patients per year. The LALUCA registry is aweb-based platform for the collection of real-world clinical data of lung cancer patients. Combining alarge number of patients with afocus on gathering comprehensive data on diagnosis and treatment, the LALUCA registry provides atool for investigation, evaluation, and improvement of the clinical management, survival and quality of care of Austrian lung cancer patients.

COVID-19 Information Platform for Primary Care: Emergence and Development of a Web-based Knowledge Platform in the COVID-19 Pandemic

The SARS-Cov-2 outbreak in the spring of 2020 challenged the health care system, and thus primary care, on an unprecedented scale. Knowledge about the new disease was low, whereas the dynamics of knowledge generation were high and inhomogeneous. A number of new primary care tasks related to the pandemic situation emerged. Guidance in the management of COVID-19 was therefore needed, although robust evidence was not yet available. The information required concerned not only the virus and the new disease COVID-19, but also regulatory requirements and organizational issues. In this situation, a flexible, web-based information tool, easy to update and usable at the point of care, was developed at Karl Landsteiner Private University Krems and put online under the name of "COVID-19: prevention and management in primary care practices" on March 25, 2020. In a retrospective process description, we describe the needs-triggered process of developing and disseminating a practice-based tool to support practicing primary care physicians in a period of high uncertainty with an urgent need for information. Afterwards, we reflect on the learning process from a purely pragmatic to an increasingly structured approach and try to draw conclusions regarding optimization possibilities in terms of creation and dissemination. In situations of high uncertainty combined with an acute need for action and decision-making, there is a significant need for information that is as reliable as possible. Science transfer must be done in such a way that information can be implemented quickly. Dissemination, as always, plays an essential role. Gaps must be accepted. A structured process of quality assurance must be established in parallel. Funds and resources for knowledge transfer should be included in future pandemic plans.

Blood Group Characteristics in Rectal Cancer. A study Conducted in a Tertiary Care Center, Srinagar, Kashmir, India

Introduction: Rectal cancer is the third most common cancer in the world. Tumors are most commonly located in the rectosigmoid region. There are many actors in the etiology such as age, geographical features, family history, obesity, diet, and history of malignancy. Blood groups are one of the controversial etiologic factors in CRC. Blood group antigens, covered by Karl Landsteiner in 1901, have been the subject of numerous cancer studies since 1953, when Aird declared that blood group A was associated with stomach cancer. Aim: In the present study, we aimed to determine the effect of blood group characteristics, which play a role in the etiology of Rectal cancer. Method: We Prospectively reviewed the patients who were diagnosed with CRC and operated in our center or at other centers and were followed postoperatively at our centers. Age, gender, histologic TNM stage (tumor, lymph node involvement, and metastasis), tumor-bearing colonRectal segment, ABO blood group, and Rh antigen were examined from the patients’ records. Results: Total of 60 patients with histopathologically confirmed as rectal cancers formed the study population. The male to female ratio in rectal cancers was 1.7:1. The age group varied from 16 to 80 years with most common age group in rectum cancer were between age is 45-64 years constituted (29) 48%. However, we observed relationship in the present study between Rh antigen and lymph node metastasis, liver metastasis, or TNM stage. O Blood group and rh positive was associated with lymph node involvement, higher TNM stage, and also found that risk of liver metastasis. Conclusion: As in Rectal cancer, our findings show that the O (+) blood group is a risk factor in rectal cancers, which have multifactorial etiology. Further genetic studies are needed.
 

HF01-13 TRANSFUSION, THE BATTLEFIELD, AND RACIAL POLITICS

You have accessJournal of UrologyCME1 Apr 2023HF01-13 TRANSFUSION, THE BATTLEFIELD, AND RACIAL POLITICS Joseph Kelly-Brown and Michael Moran Joseph Kelly-BrownJoseph Kelly-Brown More articles by this author and Michael MoranMichael Moran More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003243.13AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: The transfusion of blood is a fascinating history though tied in many ways to battlefield medicine. Maluf, a urology resident wrote perhaps the most fascinating account in 1954 that typically ignored the herculean contributions of one Charles R. Drew, M.D. METHODS: William Harvey first elucidated the circulation of blood in 1628 but there was obviously some appreciation on the criticality of blood loss after injury. Richard Lower tried to keep dogs alive with transfusion by 1665. However, blood groups and their importance had to await Karl Landsteiner’s discovery in 1900. We reviewed the history of blood transfusions during WWI, WWII, and the Korean War along with the work of Charles R. Drew, M.D. RESULTS: “So much of our energy is spent in overcoming the constricting environment in which we live that little energy is left for creating new ideas or things. Whenever, however, one bread out of this rather high-walled prison of the ‘Negro problem’ by virtue of some worthwhile contribution, not only is he himself allowed more freedom, but part of the wall crumbles.” Drew was born in Washington, D.C. on June 3, 1904. He attended Amherst College and was a brilliant athlete as well as student. He attended and graduated from McGill University’s school of medicine in 1933 and AOA. He went to Howard University on graduation and his doctoral thesis earned his advanced degree from Columbia University on “Banked Blood.” He received a two-year Rockefeller fellowship and began working on improved methods of collection, preservation, and marketing blood donation. He also developed the Blood for Britain Campaign at the outset of WWII. CONCLUSIONS: “The life of the body is the blood.” Genesis 9:4. In 1941 it was Dr. Drew who was appointed the first American Red Cross Blood Bank director in charge of the blood supply for U.S. Army and Navy. In 1942 when the military refused to pool blood and insisted on segregation of African-American from white blood he resigned his official posts. Drew died of a tragic automobile accident on April 1, 1950 in Burlington, N.C. leaving his wife, Lenore and four children as his legacy. Source of Funding: None © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 209Issue Supplement 4April 2023Page: e260 Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.MetricsAuthor Information Joseph Kelly-Brown More articles by this author Michael Moran More articles by this author Expand All Advertisement PDF downloadLoading ...

Blood Groups and Behaviour

Early in the twentieth century, a most important discovery was made in blood transfusion when Karl Landsteiner showed that by cross-testing one blood sample with another, some samples would mix successfully with no visual signs of reaction while others would react strongly, causing agglutination, which is a massive clumping of the red cells.

Pemeriksaan Golongan Darah pada Siswa Kelas VIII MTsS Pondok Pesantren Darul Qur’an Desa Tambak Rejo

Blood type is very basic and important in human life because it is hereditary (offspring) from parents. The term blood group refers to the entire blood group system that consists of antigens on red blood cells. Blood type refers to the specific reaction pattern of the antiserum given. Since its discovery by Karl Landsteiner in 1901, blood groups have contributed to the understanding of the mechanisms of heredity today. In this world, there are actually about 46 types of antigens besides the A-B-O antigens, it's just that they are much rarer. The method used is a blood group examination free of charge. The dedication activity in the form of checking blood type was carried out at MTsS Darul Qur'an Islamic Boarding School which is located on Jalan Tambak Rejo Medan Amplas, Percut Sei Tuan District, Deli Serdang Regency, North Sumatra Province. The target audience for this service activity is class VIII students. This service activity was carried out on February 16, 2022, from 09.00-13.00 WIB. The procedure for implementing community service consists of three stages including surveys and interviews, preparation, and implementation. Based on the blood group examination results as presented in Figure 3, it can be seen that the proportion for blood group A is 30.8%, blood group B is 23.0% and blood type O is 38.5% while the proportion for blood group The lowest AB is 7.7%.

Genetics and genomics in healthcare: The future is now.

Genetics and genomics in healthcare: The future is now.

Reconsider the Art of Allergen Immunotherapy

This symposium took place during the European Academy of Allergy and Clinical Immunology (EAACI) Hybrid Congress, held in Prague, Czechia, in July 2022. Stephanie Dramburg, Medical Doctor at Charité Universitätsmedizin, Berlin, Germany, explained that the traditional diagnostic work-up for allergic rhinoconjunctivitis (AR) comprises retrospective clinical history and allergen exposure assessment, extract-based diagnostics, component-resolved diagnostics (CRD), which enables markers of genuine sensitisation to be distinguished from markers of cross-reactivity, and confirmation of clinical relevance. She highlighted that molecular IgE assessment supports the diagnostic work-up and personalised risk assessment in complex cases and that confirmation of clinical relevance of IgE results is key. Furthermore, broadening of a serum IgE response is indicative of ‘molecular spreading’. Dramburg considered that digital technologies have the potential to enhance medical decisions at the point-of-care via targeted patient information, guideline- and evidence-based clinical knowledge, and prospectively collected patient- and sensor-generated data. Marek Jutel, Medical Professor at Wroclaw Medical University, Poland, and the ALL-MED Medical Research Institute, Wroclaw, Poland, described that patients with allergies show different clinical pictures due to differing sensitisation profiles assessed at the molecular level. He noted that patients with allergies react differently to different allergen doses and allergen immunotherapy (AIT) preparations, and minor/intermediate allergens are necessary, in addition to major allergens, for optimal clinical efficacy. Jutel described that allergens that are decisive for AIT efficacy are defined in grass pollen but are not yet determined for other allergen sources such as birch and house dust mite (HDM). Petra Zieglmayer, Medical Professor at Karl Landsteiner University, Krems, Austria, and Head of Vienna Challenge Chamber, Austria, discussed that patients with allergies show complex molecular sensitisation profiles and that extract preparations from different manufacturers vary in terms of allergen composition, with major and intermediate allergens not always detectable. She clarified that optimal efficacy of AIT may only be expected from preparations containing all relevant allergen components in sufficient amounts. Zieglmayer proposed that the target should be to find a match between the patient molecular sensitisation profile and the allergen preparation and that this can be achieved.

Reconsider the Art of Allergen Immunotherapy

This symposium took place during the European Academy of Allergy and Clinical Immunology (EAACI) Hybrid Congress, held in Prague, Czechia, in July 2022. Stephanie Dramburg, Medical Doctor at Charité Universitätsmedizin, Berlin, Germany, explained that the traditional diagnostic work-up for allergic rhinoconjunctivitis (AR) comprises retrospective clinical history and allergen exposure assessment, extract-based diagnostics, component-resolved diagnostics (CRD), which enables markers of genuine sensitisation to be distinguished from markers of cross-reactivity, and confirmation of clinical relevance. She highlighted that molecular IgE assessment supports the diagnostic work-up and personalised risk assessment in complex cases and that confirmation of clinical relevance of IgE results is key. Furthermore, broadening of a serum IgE response is indicative of ‘molecular spreading’. Dramburg considered that digital technologies have the potential to enhance medical decisions at the point-of-care via targeted patient information, guideline- and evidence-based clinical knowledge, and prospectively collected patient- and sensor-generated data. Marek Jutel, Medical Professor at Wroclaw Medical University, Poland, and the ALL-MED Medical Research Institute, Wroclaw, Poland, described that patients with allergies show different clinical pictures due to differing sensitisation profiles assessed at the molecular level. He noted that patients with allergies react differently to different allergen doses and allergen immunotherapy (AIT) preparations, and minor/intermediate allergens are necessary, in addition to major allergens, for optimal clinical efficacy. Jutel described that allergens that are decisive for AIT efficacy are defined in grass pollen but are not yet determined for other allergen sources such as birch and house dust mite (HDM). Petra Zieglmayer, Medical Professor at Karl Landsteiner University, Krems, Austria, and Head of Vienna Challenge Chamber, Austria, discussed that patients with allergies show complex molecular sensitisation profiles and that extract preparations from different manufacturers vary in terms of allergen composition, with major and intermediate allergens not always detectable. She clarified that optimal efficacy of AIT may only be expected from preparations containing all relevant allergen components in sufficient amounts. Zieglmayer proposed that the target should be to find a match between the patient molecular sensitisation profile and the allergen preparation and that this can be achieved.

Oxytocin receptor gene methylation as a molecular marker for severity of depressive symptoms in affective disorder patients

BackgroundOxytocin (OXT) is a neuropeptide and hormone involved in emotional functioning and also seems to play a role in moderating the stress response. Both preclinical and clinical studies point to an increased methylation status of the Oxytocin receptor (OXTR) promoter region with concomitant deficits in social, cognitive and emotional functioning. We hypothesize that methylation levels (%) of the oxytocin receptor promoter region correlate with the severity of depression symptoms and/or with the severity of childhood trauma within this present sample of affective disorder patients.MethodologyEight hundred forty six (846) affective disorder patients of Central European origin were recruited at the Department of Psychiatry and Psychotherapy of the Medical University Vienna, the Karl Landsteiner University for Health and Science and Zentren für seelische Gesundheit, BBRZ-Med Leopoldau. Psychiatric assessment included a semi-structured diagnostic interview (Schedules for Clinical Assessment in Neuropsychiatry), the Hamilton Depression Scale and the Childhood Trauma Questionnaire. Concomitantly DNA samples of peripheral blood cells were collected for Multiplexed and Sensitive DNA Methylation Testing.ResultsOur data suggests a positive but not significant association between OXTR promoter Exons 1–3 methylation levels and severity of depression symptoms as well as severity of emotional neglect in affective disorder patients and no association with childhood trauma.ConclusionsOur findings contribute to elucidate the role of OXTR in affective disorders, but further longitudinal studies in particular are necessary to broaden the current state of knowledge.

The effect of micronutrient supplementation on serum anti-Mullerian hormone levels: a retrospective pilot study

Background The anti-Müllerian-hormone (AMH) is secreted by the granulosa cells of the oocytes and can be used as a marker of the ovarian reserve; helpful to estimate female fertility or the menopause onset. Although various factors may influence AMH levels, the correlation with nutritional factors needs more research. Objective To evaluate the effect of a micronutrient supplementation on female AMH levels. Methods This retrospective analysis includes a total of 244 women, who attended the Karl Landsteiner Institute, Korneuburg, Austria from January 2013 to June 2019 due to an unfulfilled desire for a child. All women were treated with an oral micronutrient preparation consisting the dosage of one soft capsule and one tablet per day for 3 months. The soft capsule contains omega-3 fatty acids and the tablet is a standardized combination of coenzyme Q10, vitamin E, folic acid, selenium, catechins from green tea extract, and glycyrrhizin from licorice extract. Serum AMH levels before and after 3 months were compared. In addition, available clinical data such as ovulation frequency, endometrium thickness, and luteal phase duration were analyzed. Results The mean age of the women was 37.3 ± 1.8 years, the mean body mass index of 24.3 ± 4.6 k/m2. The mean serum AMH levels and endometrial thickness values were significantly higher after micronutrient supplementation as compared to baseline (1.42 ± 0.86 versus 1.86 ± 0.82 ng/mL and 6.10 ± 1.76 versus 7.29 ± 1.65 mm, respectively). In addition, ovulation frequency and luteal phase duration significantly improved in more than 60%. Conclusion Proposed micronutrient supplementation had a positive effect on serum AMH levels, endometrial thickness, ovulation frequency, and luteal phase duration. It could be a simple, risk-free therapeutic option to improve female fertility. More research is warranted to prove this effect.

The history of the origin of the blood service

The development of blood donation for tens and even hundreds of years was accompanied by wonderful stories of salvation and tragic stories of the death of patients, as well as incredible ups and downs — from the deification of this method to the state and church ban on its use. There are three main stages in the history of the formation of transfusiology as a science: the era before the discovery of the circulatory system, the period when blood transfusion had no scientific justification due to ignorance of the existence of the four main blood groups, and, finally, the modern stage, which began with the discovery of blood group systems by Karl Landsteiner, and later the Rh factor. Despite the fact that more than 100 years have passed since this great discovery, a worthy alternative to human-to-human donor blood transfusion has not yet been found.

The Prevalence of ABO, Rh and Bombay Blood Group among Donors at a Tertiary Care Hospital in Mangalore, India

Introduction: Blood types were first discovered by an Austrian physician, Karl Landsteiner. He found that blood sera from different persons would clump together (agglutinate) when mixed in test tubes, and some human blood also agglutinated with animal blood. The study of different blood groups is important as it has major role in blood transfusion, certain medico-legal cases especially disputed paternity etc. Aim: This study was carried out to find the prevalence of ABO, Rhesus (Rh) and Bombay blood group among donors at a tertiary care hospital. Materials and Methods: The present retrospective study was done at a tertiary care hospital of Mangalore, Dakshina Kannada district, Karnataka, India from June 2018 to May 2019 with data analysis done in November 2019. Data of 8,254 blood donors were collected and analysed regarding ABO, Rhesus and Bombay group from June 2018 to May 2019. Blood grouping was done by automated method using agglutination technique. The data collected was analysed by frequency and percentage. Results: The total donors studied were 8,254 with mean age of 48 years. The most common blood group was O (n=3178,38.5%) followed by B (n=2343, 28.38), A (n=2102, 25.47%), AB (n=629, 7.62%) and Bombay (n=2, 0.02%), respectively. Rh positivity among donors were 94% (n=7762). Rest were Rh negative and were found to be approx. 6% (n=490). Conclusion: The most common blood group among donors was O Rh positive and the least common was Bombay blood group. Every blood bank should have a record of frequency of ABO and Rh grouping as it is important for its effective management. Safe transfusion reduces the risk of transfusion transmitted illnesses and thus promotes patient safety

Transfuzijska medicina - istorijski osvrt i legislativa

Introduction: More than 300 years have passed from the first attempts to use blood for therapeutic purposes, to scientifically based postulates of blood use. Each generation of physicians, faced with the need for clinical transfusions to save lives, has contributed to the safety and acceptance of transfusions by tackling the lack of laboratory equipment, legislation and even adequately trained medical staff. To indicate the existing regulations for a significant clinical area of Clinical transfusion medicine as a separate entity. Material and Methods: Online search of the historical and medical development of trans - fusion and international and domestic regulations in the field of transfusion medicine. A literature search was conducted using PubMed, Cochrane, Embase, and Scopus databases. The search was done on the following keywords: transfusion medicine, regulative, doc - tor's education, history of transfusion . Topic: The first successful human-to-human transfusion directly from vein to vein was performed in 1818 by the English physician Dr. James Blundell. As blood groups were not known at the time, this transfusion was successful by chance. In 1901, the Austrian doc - tor Dr. Karl Landsteiner discovered the ABO blod group system, so the transfusion became safer. Over the decades, the blood establishment has been improved both organizationally and functionally in order to ensure the safest possible blood. Blood banks in 1970's move to - ward an all-volunteer blood donor system. The turning point for the organization of hos - pital blood banks was 1987, when the European directive provided for the gathering of member states on the legal responsibility for blood products, starting in July 1988. A "Safe Blood Strategy" is being developed on the basis of WHO guidelines. On the basis of Article 152 of the Amsterdam Treaty of 1999 and the amendment of Directive 2001/83/ EC - EP and EC, Directive 2002/98/EU of the European Parliament and of the Council 2003 was created. So far, 8 editions of the guidelines "Red Book" have been published. Based on international guides and standards, it can be said that the clinical transfusion of the Republic of Serbia has developed in parallel with world trends. The European Commission operates through recommendations (EC recommendations), of which the most important in practice are: Recommendation No.R (88) 4 concerning the responsibility of health authorities in the field of blood transfusion. Modern therapeutic procedures include vigilance system which is why it was formed Euro - pean Haemovigilance Network (EHN) in 1998, from which the International Haemovigilance Network was formed later in 2009 (IHN). Conclusion: The therapeutic shift towards personalized therapy, including therapeutic cells, "patient blood management", has a future development in teamwork and interdisciplinary cooperation with clinical pharmacologists, immunologists, toxicologists, hematologists, obstetricians, surgeons, pediatricians. It is obligatory to acquaint all health profiles with the regulations from clinical transfusion medicine.

Evaluation of the Bactericidal Activity of Galectins.

Over a century ago, Karl Landsteiner discovered that blood group antigens could predict the immunological outcome of red blood cell transfusion. While the discovery of ABO(H) blood group antigens revolutionized transfusion medicine, many questions remain regarding the development and regulation of naturally occurring anti-blood group antibody formation. Early studies suggested that blood group antibodies develop following stimulation by bacteria that express blood group antigens. While this may explain the development of anti-blood group antibodies in blood group-negative individuals, how blood group-positive individuals protect themselves against blood group-positive microbes remained unknown. Recent studies suggest that several members of the galectin family specifically target blood group-positive microbes, thereby providing innate immune protection against blood group antigen-positive microbes regardless of the blood group status of an individual. Importantly, subsequent studies suggest that this unique form of immunity may not be limited to blood group expressing microbes, but may reflect a more generalized form of innate immunity against molecular mimicry. As this form of antimicrobial activity represents a unique and unprecedented form of immunity, we will examine important considerations and methodological approaches that can be used when seeking to ascertain the potential antimicrobial activity of various members of the galectin family.

A historical overview of advances in molecular genetic/genomic studies of the ABO blood group system.

In 1990, 90 years after the discovery of ABO blood groups by Karl Landsteiner, my research team at the Molecular Biology Laboratory of the now-defunct Biomembrane Institute elucidated the molecular genetic basis of the ABO polymorphism. Henrik Clausen, Head of the Immunology Laboratory, initiated the project by isolating human group A transferase (AT), whose partial amino acid sequence was key to its success. Sen-itiroh Hakomori, the Scientific Director, provided all the institutional support. The characterization started from the 3 major alleles (A1, B, and O), and proceeded to the alleles of A2, A3, Ax and B3 subgroups and also to the cis-AB and B(A) alleles, which specify the expression of A and B antigens by single alleles. In addition to the identification of allele-specific single nucleotide polymorphism (SNP) variations, we also experimentally demonstrated their functional significance in glycosyltransferase activity and sugar specificity of the encoded proteins. Other scientists interested in blood group genes later characterized more than 250 ABO alleles. However, recent developments in next-generation sequencing have enabled the sequencing of millions of human genomes, transitioning from the era of genetics to the era of genomics. As a result, numerous SNP variations have been identified in the coding and noncoding regions of the ABO gene, making ABO one of the most studied loci for human polymorphism. As a tribute to Dr. Hakomori's scientific legacy, a historical overview in molecular genetic/genomic studies of the human ABO gene polymorphism is presented, with an emphasis on early discoveries made at his institute.Graphical abstract

History of the Rhesus factor and of neonatal jaundice

The history of icterus and neonatal jaundice has been recorded since the 17th century, when a French midwife first described jaundice (jaune) in twins. In 1940, Alexander Wiener and Karl Landsteiner discovered the Rh blood group, and they investigated the isoimmunization via antigen transfer across the placenta from the fetus. Other blood group systems implicated in isoimmunization were discovered between 1901 and 1965. Between 1940-1960, many studies have focused on the etiology of hemolytic disease of the newborn, on incompatibility in the Rh system, cholestasis, metabolic diseases, inhibitors of breast milk, and the association between prematurity and jaun-dice or extremely nuclear jaundice. It is the merit of AW Liley, in 1963, who described the diagram of the same name based on the level of bilirubin in the amniotic fluid and who performed the first fetal transfusions for fetal anemia. Last decades, non-invasive methods of diagnosis and treatment were described.

Monoamino Oxidase A Gene Single-Nucleotide Polymorphisms and Methylation Status and the Risk of Violent Suicide Attempts in Affective Disorder Patients.

Background: When investigating the neurobiology of suicidal behavior, Monoamino Oxidase A (MAOA) is one of the prime suspects to consider. Interestingly, MAOA dysregulation has also been associated with violent behavior in previous publications. In the present study, we aimed to establish an association between polymorphisms of the MAOA gene and methylation status of the MAOA gene Exon I, and suicide attempts with violent methods in a sample of affective disorder patients.Methods: Eight hundred fourteen Caucasian affective disorder patients were assessed at the Department of Psychiatry and Psychotherapy of the Medical University Vienna, the Karl Landsteiner University for Health and Science and Zentren für seelische Gesundheit, BBRZ-Med Leopoldau. An assemblage of psychiatric interviews was performed (e.g., SCAN, HAMD, SBQ-R, CTQ) and DNA samples of peripheral blood cells were collected for Sequenom MassARRAY® iPLEX Gold genotyping and Multiplexed and Sensitive DNA Methylation Testing.Results: Female affective disorder patients with a history of violent suicide attempt were found to have a significantly increased frequency of the AA genotype in the rs5906957 single nucleotide polymorphism (p = 0.003). Furthermore, the MAOA gene exon I promoter region showed significantly decreased methylation in female violent suicide attempter(s) as opposed to female affective disorder patients who had no history of suicide attempt or no history of suicide attempt with violent method.Limitations: The small sample size hampers to reveal small genetic effects as to be expected in psychiatric disorders.Conclusions: This study offers promising findings about associations between the MAOA gene and violent suicide especially in women.