Glossary

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• 22q11

  Deletionssyndrom 22Q11

  Beim Deletionssyndrom 22q11 handelt es sich um eine Veränderung in den Erbanlagen. Das lateinische Wort „Deletion“ bedeutet Löschung. An einer bestimmten Stelle im Erbgut, die mit „22q11“ bezeichnet wird, fehlt ein winziges Stück der Erbinformation. Zu den darunter zusammengefassten Krankheiten zählen zum Beispiel das Velokardiofaziale Syndrom (VCFS oder Shprintzen-Syndrom) oder das DiGeorge-Syndrom. Die Lebenserwartung ist bei den meisten Betroffenen weitgehend normal, sofern nicht ein schwerwiegender Herzfehler oder eine schwere körperliche Abwehrschwäche bestehen.

• Advance directive

  An advance directive is a document that allows you to make advance decisions about what medical treatment you want or do not want in a particular situation.

• Agenesie

  Fehlende Anlage von Körperorganen.

• AICD/ICD

  Automatischer implantierbarer Cardioverter/Defibrillator: Spezielles Herzschrittmacher-Aggregat, das lebensgefährliches Herzrasen erkennt und stoppt.

• Allel

  Unterschiedliche Formen eines Gens. Allel ist gleichbedeutend mit dem Begriff Gen, wenn dieser sich auf eine bestimmte DNA-Sequenz (DNA-Abfolge) bezieht. Im Genom gibt es immer zwei Allele, jeweils eines aus dem mütterlichen und eines aus dem väterlichen Chromosom. Sie stehen in Wechselwirkung miteinander. Ein Allel kann sich dominant gegenüber einem anderen verhalten und bestimmt damit die Ausprägung eines Merkmals. Es kann unterliegen, sich rezessiv verhalten, oder beide Allele verhalten sich intermediär, sind also beide an der Ausprägung eines Merkmals beteiligt.

• Anonymization

  When data is anonymized, it is encrypted (coded) in such a way that it cannot be assigned to a specific or identifiable natural person.

• APGAR-Score

  Der APGAR-Score, auch APGAR-Index genannt, ist ein Punkteschema, mit dem sich der klinische Zustand von Neugeborenen standardisiert beurteilen lässt. Das Schema wurde Anfang der fünfziger Jahre von der US-amerikanischen Anästhesistin und Chirurgin Virginia Apgar entwickelt und später nach ihr benannt. Die fünf Buchstaben dienen dabei auch als Merkhilfe für die fünf Kriterien des Punkteschemas: Atmung, Puls, Grundtonus, Aussehen und Reflexe.

• Arteriolen

  Arteriolen sind kleinste Blutgefäße im menschlichen Körper. Sie zweigen von den größeren vom Herzen wegführenden Arterien ab, regulieren den Blutfluss durch das Kapillarbett und steuern damit den Blutdruck im gesamten Kreislauf. Dafür sind die Arteriolen mit einer muskulären Wand ausgestattet, die sie je nach Bedarf kontrahieren oder erschlaffen lassen können. Ihr Pendant sind die Venolen, die von den zum Herzen hinführenden Venen abzweigen.

• Artificial Neural Networks

  Artificial neural networks (ANN) are used in the application of artificial intelligence, for example in machine learning. In this process, structures are programmed that mimic the structure of the biological brain to a certain degree. Artificial neural networks can also be used to solve various problems in medicine on a computer basis.

• Atrial flutter

  Unlike atrial fibrillation, atrial flutter is a rhythm disturbance that usually originates from the right atrium of the heart. As with atrial fibrillation, normal conduction of excitation is disrupted, causing the atria to contract at a very rapid rate of 240 to 340 times per minute. This is so fast that not every excitation can be transmitted to the ventricles. The ventricles then beat up to 150 times per minute while for example the flutter rate is 300 per minute.

• Atrial switch surgery

  Atrial switch surgery, also known as atrial reversal surgery. Before the introduction of atrial switch surgery, the procedure developed by Swedish cardiac surgeon Åke Senning and modified by Canadian cardiologist William Mustard was the treatment of choice for patients with transposition of the great arteries (TGA). A patch of foreign material or the patient's own atrial tissue is sewn into the atria so that deoxygenated blood can flow through a tunnel into the morphological left ventricle and through it into the pulmonary artery, while oxygenated blood from the lungs flows through the tunnel into the morphological right ventricle and into the aorta.

• Autoimmune diseases

  Autoimmune diseases are a malfunction of the immune system in which the body attacks its own tissues.

• Azidose

  Bei einer Azidose, von lateinisch acidum, Säure, handelt es sich um eine Störung des Säure-Basen-Haushaltes im Körper, die ein Absinken des pH-Werts im Blut bewirkt. Der Referenzbereich für den pH-Wert im Blut liegt beim Menschen zwischen 7,35 bis 7,45. Liegt der pH-Wert im Blut unterhalb von 7,35, spricht man von einer Azidose.

• Biopsy

  Biopsy, from Greek bíos "life" and ópsis "sight" is an invasive procedure to remove a small amount of the tissue from a living organism followed by an examination of this tissue.

• Biplane Ejection Fraction

  The ejection fraction (from Latin e- = out, iacere = to throw, and fractio = fragment, portion) refers to the amount of blood ejected from the ventricle during contraction of the heart muscle. Conclusions about the condition of the ventricles and their function for the cardiovascular system can be drawn from  the volume of the ventricle at the end of the relaxation and filling phase (end-diastolic volume) and from the volume at the end of contraction of the cardiac musculature (end-systolic volume). The term biplane means that volumes are measured in two different ultrasound or MRI planes of the heart.

• Cardiac

  Cardiac means "concerning the heart".

• Catheter ablation

  In this minimally invasive procedure, the tissue in the heart responsible for the arrhythmia is sclerosed using heat or cold. For this purpose, a millimeter-thin plastic tube is inserted into the groin and advanced via the great vena cava into the right atrium of the heart.

• CHARGE syndrome

  CHARGE syndrome is when various organs are affected by malformations. These are: C = Coloboma, malformation of the eye and associated visual defects, H = Heart defects, A = Atresia, obstruction of the nasal passages, R = Retarded growth and developmental delay, G = Genital organ abnormalities, E = Ear, ear malformations.

• Chromosomenanomalie

  Chromosomenanomalien, auch Chromosomenaberrationen (von lateinisch aberrare, abweichen) genannt, sind lichtmikroskopisch sichtbare strukturelle oder zahlenmäßige Veränderungen der Bestandteile der Zelle, die die Erbinformation tragen.

• Cognitive Impairments

  Cognitive performance of the brain describes processes that affect perception, thinking and recognition. If these are impaired, it is difficult, for example, to understand complex information or processes, to learn, to plan, or to classify and generalize a situation.

• Cohort

  In science, the term refers to a group of people with common characteristics, such as age, origin and disease.

• Compliance

  In the narrower sense, compliance means adherence to rules and the law. In medicine, the term describes the willingness of patients to actively participate in treatment measures.

• Congenitally corrected TGA (ccTGA)

  Congenitally corrected TGA. In this rare congenital heart defect, the trunks of the pulmonary artery and aorta are reversed (transposition of the great arteries), as are the ventricles. It is referred to as "congenitally corrected" as the deoxygenated blood continues to flow from the right atrium through the left ventricle into the lungs and the oxygen-rich blood from the left atrium through the right ventricle into the aorta and supplies the body. Simply explained, it is an inversion of the heart chambers.

• Conjoint Analysis

  The Conjoint Analysis goes back to a method developed in psychology, in which several statistical variables and random variables are examined simultaneously. The method was taken up by modern market and consumer research in the 1970s.

  The conjoint analysis is based on surveys in which the respective question object is broken down into its properties and characteristics. In several survey steps, the respondents determine through their answers what weight these have for their respective individual life situation.

  In this way, it is possible to determine both which aspects are important for the individual and which expectations prevail overall in each case. As a result, corresponding patterns of expectations and requirements can be determined, which, sorted by group, clarify how an offer must be designed so that it is also accepted.

• Copy Number Variations

  Copy Number Variations (CNVs). Dabei handelt es sich um jeweils einzigartige Abweichungen der Anzahl der Kopien eines bestimmten Gens innerhalb des Genoms. Eigentlich liegt jedes Gen in zwei Kopien vor, je einer Kopie pro Chromosomensatz. Bei so genannten CNVs jedoch ist entweder nur eine Kopie vorhanden (Gen-Deletion) oder es liegen drei, vier oder mehr Kopien (Gen-Duplikation) vor, oder es fehlen Gene. Kopienzahl-Varianten sind eine der Ursachen für unsere individuelle Einzigartigkeit. Sie können auch Auswirkungen auf die Anfälligkeit für bestimmte Erkrankungen haben.

• Critical heart defect

  Critical congenital heart defects are malformations of the heart and its vessels that obstruct blood circulation to such an extent that the child has little chance of survival without treatment. After birth, they are viable for the first few days only because the bypass circuits from pregnancy are still functioning. The group of critical heart defects includes, for example, hypoplastic left heart syndrome, tetralogy of Fallot with severe obstruction of the right outflow tract (right obstruction) or transposition of the great arteries (TGA).

• Deep Learning Algorithms

  Deep Learning algorithms play the main role in machine learning, one of the most common techniques in Artificial Intelligence. Deep Learning algorithms are self-adaptive, i.e. adaptive without external intervention, computational processes that are able to recognize, evaluate and learn from multi-layered data structures in order to solve specific tasks or problems.

• Defibrillator

  Ein Defibrillator ist ein medizinisches Gerät, das durch gezielte Stromstöße Herzrhythmusstörungen behebt.

• Deiodinases

  Deiodinases are enzymes involved in the activation or inactivation of thyroid hormones by accelerating the release of iodine from, for example, the molecular compound of the thyroid hormone thyroxine, or T4.

• DiGeorge syndrome

  The syndrome is called 22q11.2 deletion syndrome and is a chromosomal abnormality with congenital malformations. Malformations of the heart, palate, and face occur. Affected individuals usually have delayed development and immunodeficiency.

• DOACs

  Direct Oral Anticoagulants

  DOACs is the abbreviation for "direct oral anticoagulants", also known as novel oral anticoagulants (NOACs). These modern anticoagulants have only been on the market since 2010 and represent an alternative to conventional anticoagulants, the so-called vitamin K antagonists (see VKAs). DOACs act directly on certain clotting factors and inhibit them, while VKAs intervene in the biochemical processes of clotting factor formation in the liver.

• Echocardiography

  Echocardiography or ultrasound cardiography is an imaging procedure for examining the heart using ultrasound.

• Electrocardioversion

  This is a procedure to restore normal heartbeat in cases of cardiac arrhythmias such as atrial fibrillation. The goal is to return the heart rhythm to sinus rhythm, i.e. to the normal, regular heartbeat.

• Embryonalphase

  Die Embryonalphase, auch Embryonalperiode, umfasst die ersten acht Wochen der Schwangerschaft, in denen sich die inneren Organe ausbilden. Ab der neunten Woche nach der Empfängnis schließen sich die Monate der vorgeburtlichen Fetalperiode an.

• End-organ Diseases

  Diseases that cause damage to major organs supplied by the circulatory system (heart, brain, lungs, kidneys, eyes).

• epigenetisch

  Der Begriff bezieht sich auf die Epigenetik, deren Name sich aus dem altgriechischen Wort epi = auf, darüber, darauf (örtlich und zeitlich), bei, [da]neben und dem Begriff Genetik ableitet. Die Epigenetik untersucht und beschreibt die Faktoren und Mechanismen, die zu einer stärkeren oder schwächeren Aktivität (bis hin zum An- und Abschalten) von Genen führen, ohne dass sich die Sequenz dieser Gene, der genetische „Bauplan“, durch Mutationen verändert hätte. Die Aktivität eines Gens kann beeinflusst werden (i) durch die Wirkung anderer Gene, (ii) durch den biochemischen Zustand und sogar die räumliche Lage der Zelle, in der sich das Gen befindet, sowie (iii) durch Umweltfaktoren wie z. B. Temperatur. Bestimmte, durch epigenetische Faktoren hervorgerufene Aktivitätsmuster von Genen können von Zellen zu Tochterzellen weitergegeben und manchmal auch von Elterngenerationen an die Nachkommen vererbt werden. Wie genetische und epigenetische Regulationsmechanismen zusammenspielen und wie sich die genetische Information unter dem Einfluss äußerer Signale auf die Entwicklung eines Organismus auswirkt, aber auch die Entstehung von Krankheiten verursacht, ist noch weitgehend unverstanden.

• Evidence-based patient care

  This refers to medical care that is based on evidence from scientific studies. The goal of evidence-based medicine is to improve the basis for medical decision-making and to increase the quality of diagnosis and therapy. Medicines and therapies should be used whose efficacy and benefits have been comprehensibly proven by appropriate studies.

• Failing Fontan

  Von Failing Fontan spricht man, wenn es bei einer Fontan-Zirkulation, bei der nur eine Herzkammer die Pumpleistung für die Sauerstoffversorgung des Blutkreislaufs übernimmt, zu Herzversagen kommt. Die Verschlechterung der Herzfunktion geht mit einem Eiweißverlust-Syndrom - einer Ausscheidung des Eiweißes Albumin aus dem Blut in den Darm - einher. Es ist eine sehr schwere Komplikation, für die es außer einer Herztransplantation noch keine Behandlung gibt.

• First Author

  Authorship of a scientific publication: The first author is usually the person who leads the organization, planning, coordination, and manuscript preparation of a research project. The senior author is the person who initiates the project, i.e. who has the idea for the project.

• Fontan Circulation

  The Fontan circulation, named after the French cardiac surgeon François M. F. Fontan (1929 - 2018), is created by a surgical procedure when a patient has only one functioning ventricle, meaning that either the left or right ventricle is malfunctioning. Congenital heart defects associated with such a single-ventricle heart, also known as a univentricular heart, include hypoplastic left heart syndrome (HLHS), tricuspid atresia (TrA), or double-inlet left ventricle (DILV). In the Fontan circulation or Fontan circuit, deoxygenated blood from the body passively flows directly to the lungs and the existing ventricle pumps oxygenated blood to the body.

• G-BA

  Joint Federal Committee (G-BA)

  The Joint Federal Committee (G-BA) is the highest decision-making body of the joint self-government in the German healthcare system. It determines, in the form of guidelines, which medical services the approximately 73 million insured persons can claim. In addition, the G-BA decides on quality assurance measures for practices and hospitals.
  Source: https://www.g-ba.de/english/

• GDPR

  General Data Protection Regulation

  The EU's General Data Protection Regulation (GDPR) has been in force since May 25, 2018. It regulates how the private data of individuals may be collected and handled by companies and institutions. The laws contained in the GDPR are intended to guarantee better protection of individuals' personal rights. Thus, all information may now only be collected with the consent of the person concerned. This consent can be revoked at any time. It also sets stronger incentives for "pseudonymization" of data, as used at the National Registry for Congenital Heart Defects (NRAHF). Pseudonymization means replacing identifiers such as name with a pseudonym - such as a multi-digit numerical code as used at the NRAHF. In this way, large amounts of data can be processed without reference to individuals and therefore in a particularly data-protection-safe manner. Frequently asked questions about the GDPR can be answered by the German Federal Ministry of the Interior and Community.

• Gender Inequality Index (GII)

  The Gender Inequality Index (GII) is a United Nations measure of gender inequality within a country's population. It is composed of the factors of women's reproductive health, women's representation in parliaments, schooling and labor force participation in a gender comparison and has been published annually by the United Nations Development Programme (UNDP) since 2010.

• Gendiagnostik

  Patienten, die erfahren wollen, ob sie ihren eigenen angeborenen Herzfehler vererben können oder ob es eine familiäre Erkrankung gibt, die sie geerbt haben, müssen hierzu eine genetische ärztliche Sprechstunde aufsuchen. Dort kann man bei einigen Krankheiten mit gezielten genetischen Tests die individuelle Diagnose untersuchen. Der Facharzt kann dann die Bedeutung und Auswirkungen der Diagnose erklären. Alle Fragen zur Gendiagnostik sind im Gendiagnostikgesetz geregelt. Mehr dazu lesen Sie auf den Internetseiten des Bundesministeriums für Gesundheit. Die Gendiagnostik ist ein kontrovers diskutiertes Thema. Der Deutsche Ethikrat hat im April 2013 eine Stellungnahme dazu verfasst. In Deutschland sind genetische Forschung und Gendiagnostik per Gesetz strikt voneinander getrennt.

• Genome Sequencing

  During genome sequencing, the entire DNA components of all 23 chromosome pairs, i.e. about three billion nucleotide sequences, are determined and subsequently analyzed.

• Genomische Medizin

  Genomische Medizin bedeutet, dass bei der Diagnostik und Behandlung einer Erkrankung gezielte Gen- und Genomanalysen Berücksichtigung finden. Dabei arbeiten Labormediziner, klinische Genetiker und Ärzte der jeweils krankheitsrelevanten Fachgebiete zusammen und stimmen die für den Patienten geeignete Diagnostik und Therapie ab. Die Genomische Medizin ist ein Kerngebiet der personalisierten Medizin.

• gold standard

  In medicine, the term gold standard describes the best diagnostic, therapeutic, or scientific method according to doctrine. When a new procedure is compared to a gold standard, the accuracy of the new procedure is judged against that of the gold standard.

• Gross Domestic Product

  The Gross Domestic Product (GDP) is the total value of all goods and services produced or supplied as end products within the national boundaries of an economy in a given year.

• Hancock Prosthesis

  The Hancock prosthesis is a biological valve replacement made from animal material, manufactured from the porcine aortic valve.

• Health care proxy

  This allows us to designate someone to act as our contact person, make decisions on our behalf, and represent our wishes to doctors and medical staff.

• Hematologist

  Hematology is the study of diseases of the blood and blood-forming organs. Hematologists are physicians who are specialized in diseases of the blood, formation disorders of the bone marrow, blood changes caused by immunological processes, and disorders of blood coagulation.

• Heterotaxie

  Heterotaxie. Der Begriff leitet sich aus dem Griechischen von heteros, verschieden, und taxis, Anordnung, ab. Bei einer Heterotaxie handelt es sich um eine Verlagerung der Organe. Etwa eins von 15.000 Neugeborenen ist von einer solchen Organverlagerung betroffen. Sind die Organe asymmetrisch gespiegelt angeordnet, spricht man von einem Situs inversus. Gerät die Anordnung der Organe jedoch vollkommen durcheinander, entwickelt sich eine Heterotaxie, die in der Regel zu Komplikationen, etwa zu schweren Herzfehlern, führt.

• Human Development Index (HDI)

  The Human Development Index (HDI) is a United Nations measure of a country's level of development. It consists of three components: life expectancy, education, and purchasing power.

• Hyperphosphorylation

  Phosphorylation is a biochemical signaling mechanism in the cell in which a phosphoryl group (one or more phosphoric acid residues) is attached to an organic molecule, such as a protein, with the help of enzymes (kinases). This signaling mechanism is used by the cell to regulate important biological processes. Hyperphosphorylation, from ancient Greek “hyper” for “above”, is excessive phosphorylation. The proteins are activated or inactivated by hyperphosphorylation.

• Immunologie

  Wissenschaft, die sich mit der Reaktion des Organismus auf das Eindringen körperfremder Substanzen befasst.

• Immunologist

  The field of immunologists is immunology, the study of the biological and biochemical basis of the body's defense against pathogens (such as bacteria, viruses and fungi). The biologists and physicians specializing in this field also deal with the disorders and malfunctions of these defense mechanisms.

• Immunsuppressiva

  Immunsuppressiva sind Substanzen, welche die Funktionen des Immunsystems vermindern. Sie kommen beispielsweise nach einer Organtransplantation zum Einsatz, um die Abstoßung des Organs zu verhindern.

• Impact Factor

  The impact factor reflects the scientific influence of a publication. The impact factor is calculated by taking into account the coverage of the respective journal in which the research was published and the average citation frequency of that publication in other scientific articles. In practice, impact factors are often used to evaluate the performance of scientific publications.

• Inclusion classes

  In an inclusive class in an elementary school, primary teachers ideally work together with special education teachers in smaller class sizes.

• Inclusive schooling

  Ideally, a learning environment is created here for children with and without disabilities that takes the special needs and requirements of all pupils into account and allows everyone to participate on an equal basis.

• Indels

  Das Wort Indel (Plural: Indels) bildet sich aus den Begriffen Insertion und Deletion und bezieht sich auf Mutationen bzw. Veränderungen im Genom. Bei einer Insertion handelt es sich um den Einbau zusätzlicher Nukleotide, die Deletion dagegen bezeichnet das Fehlen von Nukleotiden.

• Infective endocarditis

  Infective endocarditis is an inflammation of the inner lining of the heart (endocardium) and the heart valve, usually caused by bacteria (usually streptococci or staphylococci) or fungi. Unlike the former, noninfectious endocarditis is a disease in which blood clots composed of platelets and fibrin form on the heart valves and adjacent endocardium. Non-infectious endocarditis sometimes progresses to the infectious form. Both forms can lead to emboli and impaired cardiac function.

• Influenza

  Als Influenza wird die sogenannte „echte“ Grippe bezeichnet. In Deutschland erkranken vor allem in den Wintermonaten nach dem Jahreswechsel viele Menschen an ihr. Es handelt sich dabei um eine akute, ernsthafte, mitunter auch lebensbedrohliche Erkrankung der Atemwege, die durch Grippeviren ausgelöst wird. Im Unterschied zur Grippe bzw. Influenza werden Erkältungen oder „grippale Infekte“ von anderen Erregern verursacht. Influenzaviren verändern sich ständig und bilden häufig neue Varianten. Durch diese Änderungen kann man sich im Laufe seines Lebens öfter mit Grippe anstecken und erkranken. Deshalb wird auch der Influenza-Impfstoff nahezu jedes Jahr neu angepasst.

• Interdisziplinär

  Interdisziplinär nennt sich eine fachübergreifende Arbeitsweise, bei der beispielsweise Ärztinnen und Ärzte voneinander unabhängiger Fachdisziplinen mit ihren jeweiligen Methoden gemeinsam einer bestimmten medizinischen Fragestellung nachgehen.

• Intravenous

  The term refers to the direct administration of a drug or fluid into a venous blood vessel, i.e. a vessel that carries deoxygenated blood. This can be done by injection, infusion, or transfusion.

• Kapillaren

  Kapillaren, von lateinisch capillus, Haar, sind die feinsten Verästelungen der Arterien und Venen. Die kleinen dünnen Hohlräume verbinden das arterielle, vom Herzen wegführende, und das venöse, zum Herzen hinführende, Gefäßsystem.

   

• KiGGS Motor Skills Module Study

  In short: MoMo. As a sub-module of the nationwide study on the health of children and adolescents in Germany (KiGGS) by the Robert Koch Institute (RKI) in Berlin, the study has been recording the motor skills and physical activity of children, adolescents and young adults in Germany at regular intervals since 2003.

• Linksventrikuläre Non-Compaction-Kardiomyopathie (LVNC)

  Die Linksventrikuläre Non-Compaction-Kardiomyopathie, kurz LVNC, bezeichnet eine seltene, genetisch bedingte Form der Herzmuskelerkrankung. In Folge einer Störung der Entwicklung der Herzmuskulatur in der Embryonalphase ist die Herzmuskulatur der linken Herzkammer zerklüftet wie ein Schwamm.

• Long Covid

  Long covid, also called "post-covid 19 symptom," is a collective term for symptoms that last for several weeks or even months after surviving a covid 19 infection: They include constant exhaustion, fatigue, neurological disturbances, sudden vomiting, muscle pain, insomnia, gastrointestinal complaints, severe dizziness and shortness of breath and even shortness of breath.

• LSOTO

  Linksseitige Ausflusstrakt-Obstruktion (LSOTO)

  Darunter fasst man alle Herzfehler zusammen, die den Ausstrom aus der linken Herzkammer ab der Aortenklappe behindern. Dazu gehören die Aortenklappenstenose bei trikuspider und bikuspider Klappe, die Aortenstenose und die Aortenisthmusstenose.

• LVOTO

  Left ventricular outflow tract obstruction

  LVOTO. The abbreviation stands for "Left Ventricular Outflow Tract Obstruction". In context of TGA, where the aorta and the pulmonary artery are "reversed" and each originates from the "wrong" ventricle, the narrowing of the left ventricular outflow tract is situated below the pulmonary valve. As a result of this, oxygen-rich and carbon dioxide-poor blood does not get transported from the left ventricle through the aortic valve into the aorta, but through that narrowing before being pumped through the pulmonary valve into the lungs. The obstruction protects the pulmonary vessels from flooding when there is a ventricular septal defect. These cases are referred to as "complex" TGA.

• Lymphozyten

  Lymphozyten sind eine Untergruppe der weißen Blutkörperchen (Leukozyten). Sie werden in den Lymphknoten, der Milz, dem Thymus und dem Knochenmark gebildet. Ihre Hauptaufgabe ist die Erkennung und Abwehr von körperfremden „Angreifern“ wie zum Beispiel Bakterien oder Viren. Lymphozyten teilen sich auf in B-Lymphozyten (B-Zellen), T-Lymphozyten (T-Zellen) und Natürliche Killerzellen (NK-Zellen).

• MACE

  Major Adverse Cardiac Event

  Die Abkürzung MACE steht für „major adverse cardiac event“, auf deutsch "schwere kardiale Komplikation". Damit sind z.B. Ereignisse wie akuter Myokardinfarkt, ischämischer Schlaganfall, Kammerflimmern, Reanimation oder kardial bedingter Tod gemeint.

• Malformation

  Verwachsung, Fehlbildung eines Organs.

• Mechanical circulatory support

  Mechanical circulatory support refers to using medical devices that help a weakened heart pump blood through the body.

• Median

  This term refers to the mean value between two series of numbers. It is calculated by listing all the numbers in ascending order and then selecting the number in the center of this scale. In contrast to the average value, it provides a better indication of how large or small a value is in comparison to the other values.

• Metabolites

  Metabolites, from Greek: metabolítes, English: the transformed, is the term for chemical compounds in the cell that are formed as an intermediate product during metabolic processes in the cell with the help of enzymes. Such enzymes are formed in the cell like most other proteins via protein biosynthesis at the ribosomes and also by non-ribosomal peptide synthetases (NRPS) as a so-called secondary metabolite.

• Mikrotubuli

  Mikrotubuli. Der Name setzt sich aus dem griechischen Wort mikros, klein, gering, und dem lateinischen Plural von tubulus, kleine Röhre, zusammen. Es handelt sich dabei um eine Gruppe von Filamenten (fadenförmige Gebilde) die am Aufbau des Zellskeletts, der Geißeln und Zilien und bei der Ausbildung der Spindelapparate bei der Zellteilung (Cytokinese) beteiligt sind. Sie haben röhrenförmige Strukturen mit einem Gesamt-Durchmesser von 25 nm und einem Innen-Durchmesser von 15 nm und können bis zu 100 µm lang werden.

• Mitochondrien

  Mitochondrien. Die Organellen, deren Name sich aus dem Altgriechischen von mitos, Faden, und chondrion‚ Körnchen, ableitet, werden in Anlehnung an ihre wichtige Funktion auch als Kraftwerke der Zelle bezeichnet. Sie sind unter anderem für die Produktion von Adenosintriphosphat (ATP) zuständig, dem universellen Energieträger für alle Zellen. Mitochondrien besitzen eine eigene DNA und vermehren sich unabhängig von ihrer Mutterzelle.

• Morbidity

  Frequency of diseases within a defined group.

• Mortality

  Frequency of death in a given group.

• Motorische Entwicklung

  Die motorische Entwicklung umfasst die Entwicklung aller Bewegungsabläufe des menschlichen Körpers während des Heranwachsens.

• Multicenter Research

  Multicenter research involves the performance of scientific studies in which several research institutions participate simultaneously. Due to the involvement of a higher number of scientists conducting research independently of one another and the inclusion of larger patient collectives, the scientific validity of multicenter studies is generally higher than that of studies conducted at only one institution.

• Myocardial Biopsy

  A myocardial biopsy is the removal of a tissue sample from the heart muscle for microscopic examination. The procedure is performed by catheter intervention.

• Neonatal

  neonatal from Latin neo (new) and natus (birth) means concerning the newborn.

• Neumutation

  EIne Neumutation ist eine zufällige, spontan (oder sporadisch) auftretende Genveränderung.

• Neurokognitive Entwicklung

  Neurokognitive Entwicklung. Darunter versteht man die Entwicklung all jener Fähigkeiten und Funktionen, die uns beim Erkennen und Erfassen von Personen und Gegenständen der Umgebung und unserer eigenen Person helfen. Zu diesen Funktionen gehören unter anderem Gedächtnis, Intelligenz, Sprache, das Lösen von Problemen und die Wahrnehmung.

• Neurological

  Neurological means "relating to neurology". Neurology, from the ancient Greek neuron for "nerve", and -logy for "doctrine", is the science and study of the nervous system, its diseases and their medical treatment. The nervous system includes the brain and the spinal cord (as components of the central nervous system) as well as the adjacent nerves, nerve roots and nerve plexuses (as components of the peripheral nervous system) and also muscles, because muscles and nerves form an inseparable unit.

• Next Generation Sequencing

  The term next generation sequencing, or NGS for short, describes the further development of DNA sequencing technology. It allows the accelerated determination of the exact sequence of building blocks (nucleotides) in DNA. Today, a human genome can be sequenced within one day.

• Nikaidoh Operation

  The Nikaidoh procedure, developed by Japanese heart specialist Hisahi Nikaidoh and used for TGA since 2008, is based on the reconstruction of the outflow from the right ventricle to the pulmonary artery using artificial material (a vascular prosthesis often made from bovine pericardium, also called a conduit). During the operation, the "reversed" aorta, including its origin from the ventricle is repositioned to the correct left ventricle.

• Non-Committed VSD

  The ventricular septal defect, a hole in the heart's septum separating the right and left ventricles, may be located directly under the aorta (subaortic), under the pulmonary artery (subpulmonary), "relatively centrally" under both great vessels (doubly committed), or further away and without direct connection to either great vessel. This is referred to as a non-committed VSD.

• Oncologist

  Oncology, from the ancient Greek onkos for "swelling, tumor", deals in particular with cancer. Physicians specializing in this field are primarily dedicated to the prevention, diagnosis, treatment and aftercare of malignant tumors.

• Palliative

  Palliative treatment is used when the primary aim is to adapt the body and/or psyche to the given conditions as best as possible, because the goal of healing cannot or has not yet been achieved.

• Pandemie

  Von einer Pandemie spricht man, wenn sich eine Krankheit nicht nur regional, sondern über Länder und Kontinente hinweg ausbreitet. Pandemien werden meistens von neu auftretenden Erregern oder Virustypen verursacht, zum Beispiel durch sogenannte Zoonosen, bei denen Krankheiten von Tieren auf Menschen übertragen werden.

• Parvovirus B19

  Parvovirus B19 was first discovered in 1975 in the blood of a healthy donor. In 1983, it was shown to cause the fifth disease in children. Measuring just 18 to 26 nanometres, parvovirus B19 is one of the smallest viruses known.

• Pathogenic Gene Variants

  Pathogenic gene variants are changes in genetic information that are thought to cause disease.

• Pathologist

  These physicians investigate in the study of the origin (etiology), mode of development (pathogenesis), course and effects of diseases, including the respective processes in the body (pathophysiology). Their activities are based, among other things, on the evaluation of tissue samples. To this end, they examine tissue changes (pathological anatomy), changes in tissue structure (histopathology) and cell changes (cytology). Biochemical and molecular biological examinations are becoming increasingly important.

• PDA

  Persistierender Ductus arteriosus

  Der persistierende Ductus arteriosus, kurz PDA, zählt zu den häufigen angeborenen Fehlbildungen am Herzen und kommt isoliert und in Kombination mit anderen Fehlbildungen des Herzens und der großen Arterien vor. Der Ductus arteriosus stellt im vorgeburtlichen Kreislauf des Kindes eine normale und notwendige Verbindung zwischen Lungenschlagader und Körperschlagader dar. Über den Ductus wird im Mutterleib (intrauterin) das Blut aus der rechten Herzkammer unter Umgehung der Lunge in die Körperschlagader gepumpt. Normalerweise verschließt sich der Ductus innerhalb von Stunden bis Tagen nach der Geburt spontan. Bleibt dieser Verschluß aus, spricht man von einem fortbestehenden (persistierenden) Ductus arteriosus.

• Peer-reviewed journals

  Peer-reviewed journals / peer review

  Peer-reviewed journals subject submitted scientific texts to a review process before publication. The process of ensuring the quality of a research paper is called peer review. It is carried out by independent experts in the same field and is used to assess the suitability of a scientific text for publication in order to ensure the quality of scientific publications. The process is used for scientific journals and is also used to assess the quality of proposals for research funding.

• Perinatal medicine

  Perinatal medicine is a specialty of gynecology and obstetrics that deals with the diseases and hazards of mother and child shortly before, during and up to seven days after birth. Perinatal medicine aims to reduce infant mortality through new and improved diagnostic and therapeutic options. It was largely developed by the German gynecologist and obstetrician Erich Saling, who founded the German Society for Perinatal Medicine in 1967.

• Phenotypic

  Phenotypic means relating to the phenotype (from ancient Greek phaíno "I appear" and týpos "shape"). The term phenotype refers to the visible characteristics of an organism, its appearance.

• PIMS/MIS-C

  PIMS/MIS-C is a severe clinical picture with inflammation of the entire organism that has been observed in rare cases in children and adolescents usually several weeks after infection with SARS-CoV-2. Children without prior Covid 19 symptoms have also been affected. Inflammation occurs in the skin and mucous membranes, heart and gastrointestinal tract, lungs, liver, and kidneys. In many children, cardiac function (especially of the left ventricle) is impaired. Clinical signs of myocarditis and pathologic changes in the cardiac vessels have also been frequently observed. Shock symptoms, which rarely occur in PIMS and are comparable to severe blood poisoning (sepsis), require intensive medical treatment, sometimes with ventilation. The "new" clinical picture is increasingly better understood by treating pediatricians and is now well treatable.

• Pneumokokken

  Bei Pneumokokken handelt es sich um weltweit verbreitete Bakterien aus der Familie der Streptokokken, die per Tröpfcheninfektion von Mensch zu Mensch übertragen werden. Je nach Region und abhängig vom Alter sind verschiedene Pneumokokken-Stämme für unterschiedliche Krankheiten mit zum Teil lebensbedrohlichen Verläufen verantwortlich. So verursachen sie beispielsweise die Mehrzahl aller bakteriellen Lungenentzündungen.

• Pneumologist

  Pneumology, also pneumonology from the ancient Greek pneumōn for "spirit", "breath", "breath") or pulmology, also pulmonology from the Latin pulmo for "lung") is a branch of internal medicine that deals with lung diseases. Physicians in this sub-specialty focus on the detection and treatment of diseases of the lungs and respiratory tract.

• Precision medicine (personalized medicine)

  Precision medicine, also called personalized medicine or individualized medicine, aims to treat each patient individually and tailor-made, thereby increasing the success of the therapy. This also includes the ongoing adaptation of treatment to the recovery process.

• Prospective

  So-called prospective studies are used to test an assumption that has not yet been scientifically proven, such as the effectiveness of a treatment method. The assumption to be tested is defined in advance and the data are collected specifically for this purpose - in contrast to the retrospective evaluation of existing data material.

• Proteins

  Proteins, from the Greek prōtos meaning "first, foremost”, are macromolecules built by peptide bonds of amino acids. They are found in every living cell and, with their respective different highly specific structures, perform a variety of tasks and functions. Proteins play an essential role in all cellular processes. The totality of all proteins in a living organism, a tissue, a cell or a cell compartment, under precisely defined conditions and at a specific time, is referred to as the proteome.

• Psychosocial intervention

  Psychosocial intervention is the collective term for processes aimed at maintaining, promoting, and restoring everyday practical, cognitive, and social skills and behaviors, such as those used to support a mentally or physically distressed or impaired person.

• Pulmonary artery banding (PAB)

  In rare complex congenital heart defects, this preparative procedure is used to prevent increased blood pulmonary flow and as a result the development of life-threatening pulmonary hypertension. The main trunk of the two pulmonary arteries (pulmonary trunk) is artificially constricted with a small band. The band is removed during the subsequent corrective operation. The procedure is used, for example, for heart defects with a left-to-right shunt. This includes all congenital heart defects in which defects, such as a VSD, result blood flow to cross between normally separate vessels or cavities. This procedure can also be important for congenital heart defects where there is only one functioning ventricle.

• RCT

  Randomized Controlled Trial

  RCT, randomised controlled trial. Randomised controlled trials, or RCTs for short, are considered the most reliable study design in medical research for making a clear statement about a clear question and proving causality, and are therefore the 'gold standard'. The allocation of study participants to a treatment group (e.g. drug A or B) is randomised in order to exclude falsifying influences. This is what is meant by the term randomisation, which is derived from the English word randomize or random ('random, aimless, arbitrary'). The term 'controlled' is used because, for example, the results of treatment with a drug in the study group are compared with the results in a control group that is treated with either the most effective drug to date or a placebo.

• Reentry Circuit

  This involves a circular impulse process around scar tissue caused by corrective surgery or artificial occlusion material, for example, which triggers rapid cardiac arrhythmias.

• Regurgitation

  Regurgitation is when the blood flow in the heart is in the opposite direction to the usual direction of flow. This is due to incomplete closure of one of the four heart valves.

• REV Procedure

  The so-called Réparation à l'étage ventriculaire, or REV procedure, used for TGA since 2006, is a kind of French counterpart to the Nikaidoh operation. It does not require a conduit, which is an artificial vascular prosthesis that connects the ventricle to the pulmonary artery.

• Right atrium

  Im rechten Vorhof sammelt sich sauerstoffarmes Blut aus dem Körperkreislauf und gelangt über die rechte Herzkammer in die Lunge, wo es mit Sauerstoff angereichert wird.

• Risikostratifizierung

  In der Medizin bezeichnet der aus dem Lateinischen von stratum, Decke, und facere für machen, herstellen, abgeleitete Begriff das Abschätzen des Risikos, mit dem eine Erkrankung fortschreitet, zu Komplikationen oder zum Tod führt.

• RNA

  Ribonukleinsäure

  RNA (ribonucleic acid) is a single strand composed of nucleotides in every cell of a living organism. Ribonucleic acids are important information and function carriers of a cell. The nucleotides of an RNA consist of a phosphate residue, a sugar molecule and an organic base. The different types of RNA play an important role, for example, in protein production or the regulation of gene activities: The mRNA serves as an information transmitter and contains the blueprint for the proteins that are produced during protein biosynthesis. The tRNA transports amino acids to the ribosomes. The rRNA formed within the nucleus makes up the bulk of the ribosomes, which read the genetic information from the mRNA and build proteins from it.

• RSV

  Respiratorisches Synzytial-Virus

  Das respiratorische Synzytial-Virus, kurz RSV, ist ein weltweit verbreiteter Erreger von akuten Erkrankungen der oberen und unteren Atemwege in jedem Lebensalter und einer der bedeutendsten Erreger von Atemwegsinfektionen bei Säuglingen, insbesondere Frühgeborenen und Kleinkindern.

• RVOT Peak Gradient

  The RVOT peak gradient describes the maximum difference between the site of higher and the site of lower pressure of blood flow in the right outflow tract. These values can be measured by Doppler echocardiography.
   

• Segregation

  From Latin segregare (to remove, to separate). In genetics, refers to the separation of genetic material of maternal and paternal origin.

• Senior author

  Authorship of a scientific publication: Senior author is usually the person who initiates the research project, i.e. who has the idea for it. The first author is the person who leads the organization, planning, coordination, and manuscript preparation of a research project.

• Sepsis

  Sepsis (often also referred to as blood poisoning) is a life-threatening complication that can occur in a wide variety of infectious diseases, usually caused by viruses, bacteria or fungi. In this case, the body's immune defenses are dysregulated, which can lead to damage to the patient's own organs and even to multiple organ failure.

• Sequencing

  Biochemical method of analyzing genetic material by determining the base sequence in the nucleic acid strands of, for example, all protein-coding DNA segments in the exome. It is currently assumed that the majority of disease-causing gene mutations are found in the exome.

• Single Nucleotide Variations

  Single Nucleotide Variations (SNVs). Der Begriff bezeichnet Änderungen einzelner Nukleotide in der DNA-Sequenz eines Gens (auch "Punktmutation" genannt). Von SNVs spricht man, wenn nur wenige Individuen (< 1%) in der Bevölkerung eine solche Änderung aufweisen. SNVs sind Genmutationen, die entweder spontan (Neumutation) auftreten können oder in der Vergangenheit entstanden sind und in der Bevölkerung in sehr geringer Häufigkeit vorkommen.

• Ständige Impfkommission (STIKO)

  The Ständige Impfkommission (STIKO) is an independent body of experts based at the Robert Koch Institute (RKI). The STIKO's task is to prepare recommendations for the necessary vaccinations in Germany on a scientific basis.

• sudden cardiac death (SCD)

  sudden cardiac death (SCD) ist der englische Begriff für den plötzlichen und unerwarteten Tod aufgrund einer Herzerkrankung.

• Syndromic Heart Defects

  Rare congenital heart defect associated with other organ malformations. Non-syndromic heart defects, on the other hand, are not associated with other organ malformations.

• Tetralogy of Fallot

  The term tetralogy of Fallot is derived from the French physician Étienne Fallot, who first described this heart defect complex in 1888. "Tetralogy" means "consisting of four parts." The complex heart defect includes four malformations: 1. A narrowing below the pulmonary valve, also called subpulmonic stenosis. This obstructs blood flow from the right ventricle into the pulmonary artery. 2. a ventricular septal defect (VSD), a hole in the wall between the two chambers of the heart. 3. a so-called riding aorta, in which the main artery (aorta) originates above the VSD. 4. a thickening of the right ventricle, because it has to pump harder to push blood through the narrowed pulmonary artery.

• Thymus

  The thymus is a bilobed gland of the lymphatic system. T lymphocytes, also called T cells, are produced in this small organ behind the breastbone (sternum) from the beginning of life until adolescence. They are needed in the immune defense. In infancy, the thymus still grows a little. It retains its size until puberty, before gradually shrinking with age and being replaced by functionless fatty tissue.

• Transcriptome Analysis

  In a transcriptome analysis, all genes transcribed from DNA into RNA at a specific time in a cell are examined. In a spatial transcriptome analysis, individual transcripts are precisely localized in cells and tissue.

• Trisomy 21 (Down Syndrome)

  Trisomy 21, also known as Down syndrome after the British physician John Langdon Down, is the most common syndrome associated with disability, which is based on a deviation in the chromosome set. About one in 700 to 800 children is born with Down syndrome. Almost half of the affected children also have a heart defect.

• Vasculitis

  Vasculitis is a disease in which the immune system attacks the blood vessels. The vasculitis can affect arteries, capillaries, venules and veins and lead to severe organ damage.

• Ventricle

  In terms of the human heart, the ventricles are the two larger chambers of the heart located between the leaflet valves and the semilunar valves.

• Ventricular Septal Defect

  A ventricular septal defect (VSD) is a hole in the wall between the two lower chambers of the heart. "Ventricle" is the technical term for the heart chamber that pump blood out of the heart. "Septum" refers to the "wall" that separates the right and left halves of the heart. The defect in this case is a hole.

• VKAs

  Vitamin K-Antagonisten

  Das Kürzel VKAs steht für Vitamin K-Antagonisten. Die Gerinnungshemmer gehören zu den oralen Antikoagulanzien. Die Cumarin-Derivate in Pillenform hemmen die Bildung oder Wirkung bestimmter Gerinnungsfaktoren, indem sie in der Leber in die biochemischen Prozesse ihrer Bildung eingreifen. Cumarin ist als Aromastoff in zahlreichen Lebensmitteln enthalten, in höherer Konzentration kommt er in Zimtsorten vor. Bei empfindlichen Menschen kann er schon in geringen Dosen Leberschäden verursachen. Vitamin K-Antagonisten werden seit den 1940er Jahren als orale Antikoagulanzien eingesetzt, in Deutschland vielen etwa unter dem Handelsnamen „Marcumar“ bekannt.

• Warnes

  The classification of heart defects according to severity, taking into account therapeutic measures and sequelae, goes back to the renowned British cardiologist and EMAH specialist Dr. Carole A. Warnes. See also Distribution of registered patients by severity of heart defects. Click here to access the publication.

• Zilien

  Zilien. Bei den auch als „Antennen der Zelle“ bezeichneten Zilien handelt es sich um membranumschlossene Zellorganellen, die aus fast allen Zellen im Menschen herausragen und auch von vielen Tieren und niedrigeren Lebensformen gebildet werden. Sie erfüllen Aufgaben sowohl bei der Zellfortbewegung (z.B. von Einzellern) als auch bei der Aufnahme von Signalen aus der Umwelt. Eine wichtige Aufgabe von Zilien ist die Kommunikation zwischen Zellen. Während der Embryonalentwicklung sorgt ihre Aktivität dafür, dass jede Zelle ihren festgelegten Platz einnimmt. Sind Zilien schon im frühen Entwicklungsstadium in ihrer Funktion gestört, kann dies beispielsweise zu einer fehlerhaften Anordnung der inneren Organe führen.