AFO: Ankle and foot Orthosis. English is the abbreviation of Ankle Foot Orthosis.
AMBU: It is a breathing apparatus. The ambu has a mask and body (Pouch-Balloon) section, the ambu device is used mechanically to give artificial respiration to patients with difficult breathing or stopped breathing. The Ambu device is a device that can be easily applied by the first assistant.
ASPIRE: Although it is used to mean sucking and gathering together, it is a term frequently used in medicine. Mucus in the respiratory tract is removed by means of aspiration devices and using air.
ASO: (Antisense oligonucleotide). They are suitable techniques for functional genomic studies, consisting of very powerful weapons. A group of molecules involved in the protein synthesis process in the cell is thus called. Nusinersen Sodium is an ASO type drug used in the treatment of Sma.
BIOTECHNOLOGY: All technologies used in medicine and pharmacy to develop plants, animals and microorganisms with DNA technology, to obtain new and rare substances (goods) that do not exist naturally or cannot be produced as much as we need by taking advantage of natural science such as cell and tissue biology culture, molecular biology, microbiology, genetics, physiology and biochemistry, as well as computer and engineering, are called biotechnology.
B-PAP / C-PAP: It prevents the muscles from collapsing during the night by transmitting the air to the airway through the compressed air nasal mask determined by the doctor. It benefits to prevent the airway from staying open and oxygen drops.
CRISPR: Clustered Regularly Interspaced Short Palindromic Repeats is a set of DNA sequences. Palindromic repeat clusters that are divided at regular intervals are prokaryotic DNA segments containing short repeat base sequences. Each repeat is followed by short segments of "spacer DNA" originating from the bacteriophage or plasmid previously exposed.
DNA: Deoxyribo Nucleic acid, or shortly DNA, is a nucleic acid that carries the genetic instructions required for the vital functions and biological development of all organisms and some viruses. The main role of DNA is the long-term storage of information.
EAP: Program of early access to medicine for compassionate use Early access program is a program that enables the use of drugs that are not licensed or included in the scope of payment for humanitarian purposes and free of charge by patients in emergency situations.
EMA: (European Medicines Agency) It is the institution that licenses and inspects medicines, medical devices and cosmetic products to be used in European Union countries.
ETHICS COMMITTEE: It is the board that decides whether or not to conduct drug trials and performs monitoring and supervision duties.
PHARMACEUTICAL MEDICINE: It is the science that examines the chemical structure of drugs and their preparation in special forms (tablets, ampoules, capsules, etc.).
FDA: Affiliated to the United States Department of Health, it is the bureau responsible for food, dietary supplements, drugs, biological medical products, blood products, medical devices, radiation-emitting devices, veterinary instruments and cosmetics.
PHYSICAL THERAPY: It is a non-pharmacological treatment that includes applications to relieve pain with hot and cold applications, electric currents, massage and exercise applied externally to the body, and is applied in musculoskeletal system diseases and benefits.
GASTROSTOMY: It is the insertion of a tube through the abdominal wall into the stomach in order to feed patients who cannot be fed orally.
GEN: It is a unit of inheritance. It is a sequence of nucleotides that make up a particular part of a chromosome. In popular and informal usage, the word gene is used to mean "a biological unit carrying a certain characteristic passed from parent to child."
GENE THERAPY: Methods developed to be used in the healing of hereditary diseases. With gene therapy, which is a very new area of research, it is planned to replace these genes with healthy ones by rearranging the functions of faulty genes or gene transfer.
INTRATEKAL: is the term used as the name of the method in which drugs are given to the spinal fluid from the interval usually between the 3rd-4th the lumbar vertebrae.
INTRAVENOUS: It is a term used for intravenous drugs.
CLINICAL TRIAL: General name given to drug trials in humans.
MOTOR NEURON: It classifies nerve cells in the central nervous system (CNS) (neuron) and controls the muscles directly or indirectly. Axons in the CNS transmit information to other nerve cells. Motor neuronstransmit signals from the spinal cord to the muscles to perform the movement.
MRNA: It is a type of RNA involved in protein production.
RARE DISEASES: It is the name given to one or more rare disease in 2000 people. There are more than 6000 rare diseases known.
NG: Nasogastric catheter is the short name of the feeding tube that is swallowed through the nose or mouth and inserted into the stomach.
NEUROLOGY: Neurology is a branch of medical science that generally examines diseases of the brain, brainstem, spinal cord and peripheral nervous system and muscles, and includes diagnostic and non-surgical treatment practices.
NEUROMUSCULAR: Related to the nervous system or muscle.
OXYGEN SATURATION: It is oxygen saturation in the blood. It means the amount of hemoglobin that has reached oxygen saturation, and the Oxygen saturation level is between 95% and 100% in a healthy person.
PROTEIN SYNTHESIS: It is a biochemical process required for the cell to synthesize protein. It is a multi-step process.
REIYS: Unlicensed and Off-label Drug Management System.
RNA: Ribo Nucleic acid or RNA is a nucleic acid, a polymer of nucleotides. RNA plays many important biological roles, including in various processes related to the translation of genetic information carried in DNA into protein.
SMA: Spinal Muscular Atrophy. "Spinal" means related to the spine. "Muscular": means related to muscle and muscle mechanics. "Atrophy" means loosing. SMA is the name given to a group of hereditary neuromuscular (holding nerve muscle) diseases. This disease occurs as a result of the illness and failure of some cells in the spinal cord, which are responsible for the movement of the muscles. These cells are responsible for transmitting the motion command from the brain to the muscles. Since the muscles cannot get the command to move, they cannot work and become weak. All arm and leg muscles, body and some respiratory muscles are affected by this disease.
Four types of SMA disease of different types and severity have been clinically identified. The characteristics of these according to their ability to move or their functional status are as follows:
Type 1 SMA: They cannot sit independently, their head control is very poor.
Type 2 SMA: Has a head control. They can sit but cannot come from a lying position to a sitting position.
Type 3 SMA: They can stand and walk.
Type 4 SMA: It is the type seen in adults. There is weakness in the arms and legs. Generally, these patients can walk.
Genetic disorders are seen in hereditary diseases. Genes produce certain proteins for cells to function. When there is a gene defect, these proteins cannot be produced, underproduced or overproduced. In this case, some damage may occur in the relevant cells. Since the function of the anterior horn cell is impaired in SMA, weakness and loss of voluntary movement of the muscles in the body are seen. The gene defect that causes SMA disease is known. Therefore, if there is a disease in the family, it can be diagnosed during pregnancy. The carrier can also be detected.
SMN: Short name for Survival of Motor Neuron protein
SMN1 GENE: It is the primary gene that is found in motor neuron cells and enables the production of SMN protein. In SMA patients, this gene is missing or mutated.
SMN2 GENE: It is the secondary gene that is found in motor neuron cells and enables the production of SMN protein. This gene is found in SMA patients; How many copies are present is an important factor that determines the severity and course of the disease.
SUT: Health Practice Statement. It is the legislative statement that enables the implementation of the state's social policies related to health, guides, prices, regulates and includes all other implementation details.
TİTCK: General Directorate of Pharmaceuticals and Medical Devices, is a directorate general who serves to Republic of Turkey Ministry of Health. It is the institution that issues drug and medical device licenses and is responsible for conducting the procedure for unlicensed and off-label drug use.
TRACHEOSTOMY: It is composed of the words "trachea: windpipe" and "stoma: hole opening out" in Latin. It is the name of the process to get a new breathing hole by drilling a hole in the trachea below the throat level for medical purposes.
TRANSCRIPTION: The process of copying the nucleotide sequence that makes up DNA as an RNA sequence by the RNA polymerase enzyme. In other words, it is the transfer of genetic information from DNA to RNA.
YETİM PHARMACEUTICALS: Intended to be treated but very rare diseases these are drugs that sponsors are reluctant to develop under normal marketing conditions, since they do not allow small market-sized sponsors to pay off the capital invested in the research and development of the product.