Blood Protein Disorders
Blood Proteins
Vitelline Duct
Coagulation Protein Disorders
Serum Albumin
Databases, Protein
Sequence Analysis, Protein
Proteins
Hemoglobins
Computational Biology
Protein Conformation
Algorithms
Software
Amino Acid Sequence
Models, Molecular
Bipolar Disorder
Protein Structure, Tertiary
Molecular Sequence Data
Mental Disorders
Tissue and Organ Procurement
Tissue Donors
Brain Death
Oocyte Donation
United States
Presumed Consent
Inherited prothrombotic risk factors and cerebral venous thrombosis. (1/102)
Fifteen patients with cerebral venous thrombosis were ascertained retrospectively. Their case notes were reviewed, and stored or new blood was assayed for factor V Leiden (FVL) mutation, prothrombin gene mutation 20201A, and 5,10 methylene tetrahydrofolate reductase (MTHFR) C677T mutation. A clinical risk factor was identified in 13 patients--the oral contraceptive pill (5), puerperium (1), HRT (1), mastoiditis (1), dehydration (1), lumbar puncture and myelography (1), carcinoma (1), lupus anticoagulant (2). In addition, two patients had the FVL mutation and five (one of whom also had the FVL mutation) were homozygous for the MTHFR mutation. The latter showed a higher than expected frequency compared to 300 healthy controls from South Wales (OR 3.15.95% Cl 1.01-9.83). No patient had the prothrombin 20201A mutation. Two patients died and three had a monocular visual deficit following anticoagulation (13) or thrombolytic (2) treatment, but there was no association between the presence of a primary prothrombotic risk factor and outcome. These results confirm the importance of investigating patients for both clinical predisposing factors and primary prothrombotic states. (+info)Coordinate augmentation in expression of genes encoding transcription factors and liver secretory proteins in hypo-oncotic states. (2/102)
BACKGROUND: In the nephrotic syndrome (NS) proteins of intermediate size (40 to 200 kD) are lost into the urine resulting in a decrease in plasma albumin concentration and as a consequence a reduction in plasma colloid osmotic pressure (pi). Plasma pi has also been reported to be reduced in the condition of hereditary analbuminemia. The liver, in an apparent compensatory response, increases synthesis of a group of secreted proteins defending plasma pi. Regulation of several of these proteins, including both positive and negative acute phase proteins, is at the transcriptional level. This is the only known condition in which transcription of both positive and negative acute phase proteins (APPs) are increased simultaneously. The specific transcription factor(s) that might regulate this cascade is not defined. METHODS: RNA was extracted from livers of 5 rats with hereditary analbuminemia (the Nagase analbuminemic rat, NAR), 5 rats with NS induced by adriamycin (Adria), 5 rats with NS caused by passive Heymann nephritis (NS) and 5 control animals. The concentrations of mRNAs encoding four secreted proteins (albumin, transferrin, fibrinogen, and apo A-1), five transcription factors, early growth response factor 1 (EGRF-1), HNF-4, NGFI-C, EGR-3, and Krox20 relative to two housekeeping genes, beta actin and GAPDH were determined simultaneously using kinetic reverse transcriptase polymerase chain methodology (kRT-PCR). RESULTS: The levels of all mRNAs encoding secreted proteins except for albumin (which was reduced in NAR) were increased in NS and NAR and correlated significantly with one another. mRNA encoding EGRF 1 was increased fivefold in NS and NAR, and correlated significantly with mRNAs encoding Apo A-1, transferrin and albumin in the two NS groups. HNF-4 mRNA was increased approximately twofold in both NS groups and correlated with albumin (R = 0.881, P < 0.001), transferrin (R = 0.563, P = 0.012) and apo A-1 (R = 0.644, P = 0. 003). While fibrinogen mRNA correlated with that of each of the other secreted proteins, it did not correlate with either HNF-4 or EGRF-1 mRNA. Krox20, EGR3 and NGF1C were expressed at nearly undetectable levels. CONCLUSIONS: The hepatic response in conditions characterized by reduced plasma pi include increased levels of mRNAs encoding a group of secreted proteins, including the negative APPs albumin, transferrin and apo A-1, and the positive APP fibrinogen. Levels of mRNAs encoding negative APPs and fibrinogen correlate with one another, suggesting that they are coordinately controlled. Both EGRF-1 and HNF-4 may regulate the expression of the negative APPs, which have increased transcription in hypo-oncotic states. (+info)Complement fixation by rheumatoid factor. (3/102)
The capacity for fixation and activation of hemolytic complement by polyclonal IgM rheumatoid factors (RF) isolated from sera of patients with rheumatoid arthritis and monoclonal IgM-RF isolated from the cryoprecipitates of patients with IgM-IgG mixed cryoglobulinemia was examined. RF mixed with aggregated, reduced, and alkylated human IgG (Agg-R/A-IgG) in the fluid phase failed to significantly reduce the level of total hemolytic complement, CH50, or of individual complement components, C1, C2, C3, and C5. However, sheep erythrocytes (SRC) coated with Agg-R/A-IgG or with reduced and alkylated rabbit IgG anti-SRC antibody were hemolyzed by complement in the presence of polyclonal IgM-RF. Human and guinea pig complement worked equally well. The degree of hemolysis was in direct proportion to the hemagglutination titer of the RF against the same coated cells. Monoclonal IgM-RF, normal human IgM, and purified Waldenstrom macroglobulins without antiglobulin activity were all inert. Hemolysis of coated SRC by RF and complement was inhibited by prior treatment of the complement source with chelating agents, hydrazine, cobra venom factor, specific antisera to C1q, CR, C5, C6, or C8, or by heating at 56 degrees C for 30 min. Purified radiolabeled C4, C3, and C8 included in the complement source were bound to hemolysed SRC in direct proportion to the degree of hemolysis. These data indicate that polyclonal IgM-RF fix and activate complement via the classic pathway. The system described for assessing complement fixation by isolated RF is readily adaptable to use with whole human serum. (+info)Sialoproteinaemia: lack of correlation with inhibition of in vitro lymphoblastosis induced by phytohaemagglutinin or alloantigen. (4/102)
Elevation of serum-bound sialic acid concentration in different disease states fails to correlate significantly with suppressive serum actions in mixed allogeneic lymphocyte cultures or phyto-haemagglutinin cultures. Heat-decomplemented serum from patients with abnormal levels of bound sialic acid was added to parallel cultures containing similar blood lymphocyte populations derived from normal humans. Wide fluctuations of the rate of incorporation of tritiated thymidine into nucleoprotein indicated presence of suppressive elements other than sialoprotein in the added serum components. Serum with rising sialyl concentration derived from patients with cancer showed slight tendency to augment mixed lymphocyte and phytohaemagglutinin responses. The findings suggest that the previously documented nonspecific suppressive action of serum sialoprotein on human host lymphoblastic response to neuraminidase-treated cancer cells represents a mechanism unique to that culture system rather than a manifestation of a general immunoregulatory function of serum sialoprotein. (+info)Hypoalbuminaemia due to protein loss from gastric carcinoma. (5/102)
In a patient suffering from carcinoma of the stomach generalized oedema was the presenting symptom. It is suggested that this was due to excessive loss of protein from the stomach. (+info)STRUCTURAL STUDIES OF HUMAN 7S GAMMA-GLOBULIN (G IMMUNOGLOBULIN). FURTHER OBSERVATIONS OF A NATURALLY OCCURRING PROTEIN RELATED TO THE CRYSTALLIZABLE (FAST) FRAGMENT. (6/102)
1. Detailed physical, chemical, and immunologic studies of a protein closely related to the Fc fragment and heavy chain of G immunoglobulin (IgG), and elaborated by a subject with a lymphoproliferative disorder are presented. 2. The protein, which has a molecular weight of 51,000, was cleaved into two half molecules by reduction and alkylation. 3. The protein has few if any of the antigenic determinants of the antigen-binding (Fab) papain fragment of IgG, and has a striking similarity in its antigenic properties to the Fc fragment. 4. Fingerprint patterns resemble those of the crystallizable (Fc) fragment, and lack several peptides found in the heavy chain. 5. These findings suggest that the Fc fragment may be a real structural unit of IgG, and raise the possibility of the existence of three different types of polypeptide chains in G immunoglobulin. (+info)METABOLISM AND FUNCTION OF GAMMA GLOBULIN IN ALEUTIAN DISEASE OF MINK. (7/102)
Aleutian disease-affected mink, which are markedly hypergammaglobulinemic, show a decreased half-life of the serum gamma globulin indicating that the hyperglobulinemia is due to increased production. No evidence that the gamma globulin was antibody to the infectious agent, to autologous or isologous tissues, or to antigens the animal was responding to prior to development of the disease was obtained. The increased gamma globulin was found to be of the 6.4S variety, and gamma globulin containing protein-protein complexes of 9S to 17S and 22S to 25S classes were observed in serums of affected mink. The findings are most consistent with the Aleutian disease virus acting as a direct and somewhat selective stimulus to plasma cell proliferation. There is no evidence that the arterial and glomerular lesions of Aleutian disease have an immunologic pathogenesis. It seems possible that these vascular changes may be directly caused by the viral agent, or may be the result of the increased gamma globulin levels. (+info)AUTOIMMUNE DISEASE IN NZB/BL MICE. I. PATHOLOGY AND PATHOGENESIS OF A MODEL SYSTEM OF SPONTANEOUS GLOMERULONEPHRITIS. (8/102)
This study, based upon 528 laboratory examinations and 16 complete autopsies of NZB/Bl mice, deals with autoimmune manifestations (as shown by hypergammaglobulinemia, Coombs positive hemolytic anemia, and the occasional presence of lupus- and rheumatoid-like factors) and mainly with the pathology and the pathogenesis of glomerulonephritis in these mice, a model system of membranous glomerulonephritis with spontaneous and insidious onset, progression through chronic stages, and almost certainly induced by immunological, and autoimmune, mechanisms. The earliest and lasting histological change was hyaline thickening of the capillary walls and adjacent intercapillary regions of the glomerular tufts, corresponding in location to polysaccharide-rich capillary basement membrane and mesangial materials. Distributed focally and diffusely in the glomerular tuft and eventually sparing no glomerulus, hyaline, granular, and fibrillar ("spongy fiber") materials produced narrowing of capillary lumens by concentric or eccentric encroachment upon them. In the later stages hyaline lobulation and sclerosis of the glomerular tufts occurred. Thus the lesions corresponded to those seen in human focal and diffuse membranous, chronic lobular, and lastly (intracapillary) sclerosing glomerulonephritis. In all instances of glomerulonephritis the glomerular tufts contained selective localizations of mouse immunoglobulins corresponding in distribution to that of the hyaline and (PAS-positive) polysaccharide-rich materials in the focal and diffuse membranous and lobular lesions and in amounts increasing with the severity of glomerular disease. The mouse immunoglobulins were extracted from frozen sections of glomerulonephritic kidneys and were then capable of recombination with glomerular tufts in sections of autologous or isologous glomerulonephritic kidneys from which in vivo localized immunoglobulins had been extracted. The pattern of recombination with glomerular tufts was similar to that of in invo localized immunoglobulins. The extracted immunoglobulins did not show affinity for mouse red cells (in the indirect Coombs test) nor for autologous or isologous cell nuclei (in the immunofluorescence test). The serum of mice with severe glomerulonephritis contained immunoglobulins with in vitro affinity for extracted autologous or isologous glomerular tufts. Thus circulating as well as localized antibodies were demonstrated. The immunogenic materials (autoantigens) may have been formed in the glomerular tufts or accumulated in them from some other source, such as the circulating plasma; however they corresponded in location to polysaccharide-rich capillary basement membrane and mesangial materials. The spleen was identified at the cellular level as the main site of formation of autoantibodies to red cells, as well as the main site of red cell destruction. Some evidence was brought forth suggesting that these autoantibodies were "heavy" or gammaM-globulins. More studies are in progress. (+info)Blood protein disorders refer to a group of medical conditions that affect the production or function of proteins in the blood. These proteins are crucial for maintaining the proper functioning of the body's immune system, transporting nutrients, and preventing excessive bleeding. Some examples of blood protein disorders include:
1. Hemophilia: A genetic disorder caused by a deficiency or absence of clotting factors in the blood, leading to prolonged bleeding and poor clot formation.
2. Von Willebrand disease: A genetic disorder characterized by abnormal or deficient von Willebrand factor, which is necessary for platelet function and proper clotting.
3. Dysproteinemias: Abnormal levels of certain proteins in the blood, such as immunoglobulins (antibodies) or paraproteins, which can indicate underlying conditions like multiple myeloma or macroglobulinemia.
4. Hypoproteinemia: Low levels of total protein in the blood, often caused by liver disease, malnutrition, or kidney disease.
5. Hyperproteinemia: Elevated levels of total protein in the blood, which can be caused by dehydration, inflammation, or certain types of cancer.
6. Hemoglobinopathies: Genetic disorders affecting the structure and function of hemoglobin, a protein found in red blood cells that carries oxygen throughout the body. Examples include sickle cell anemia and thalassemia.
7. Disorders of complement proteins: Abnormalities in the complement system, which is a group of proteins involved in the immune response, can lead to conditions like autoimmune disorders or recurrent infections.
Treatment for blood protein disorders varies depending on the specific condition and its severity but may include medications, transfusions, or other medical interventions.
Blood proteins, also known as serum proteins, are a group of complex molecules present in the blood that are essential for various physiological functions. These proteins include albumin, globulins (alpha, beta, and gamma), and fibrinogen. They play crucial roles in maintaining oncotic pressure, transporting hormones, enzymes, vitamins, and minerals, providing immune defense, and contributing to blood clotting.
Albumin is the most abundant protein in the blood, accounting for about 60% of the total protein mass. It functions as a transporter of various substances, such as hormones, fatty acids, and drugs, and helps maintain oncotic pressure, which is essential for fluid balance between the blood vessels and surrounding tissues.
Globulins are divided into three main categories: alpha, beta, and gamma globulins. Alpha and beta globulins consist of transport proteins like lipoproteins, hormone-binding proteins, and enzymes. Gamma globulins, also known as immunoglobulins or antibodies, are essential for the immune system's defense against pathogens.
Fibrinogen is a protein involved in blood clotting. When an injury occurs, fibrinogen is converted into fibrin, which forms a mesh to trap platelets and form a clot, preventing excessive bleeding.
Abnormal levels of these proteins can indicate various medical conditions, such as liver or kidney disease, malnutrition, infections, inflammation, or autoimmune disorders. Blood protein levels are typically measured through laboratory tests like serum protein electrophoresis (SPE) and immunoelectrophoresis (IEP).
The Vitelline Duct, also known as the Yolk Stalk or the Omphalomesenteric Duct, is a vestigial structure in human embryonic development. It is a canal that connects the midgut of the developing fetus to the yolk sac, which provides nutrients during early stages of embryonic growth.
In normal development, this duct usually obliterates or closes off completely by the end of the 8th week of gestation. If it fails to do so, it can result in various congenital abnormalities. These may include Meckel's diverticulum (a pouch protruding from the wall of the intestine), omphalocele (a defect where the intestines and other organs protrude through the belly button), or persistent vitellointestinal duct, which can lead to infections and bowel obstructions.
Coagulation protein disorders are a group of medical conditions that affect the body's ability to form blood clots properly. These disorders can be caused by genetic defects or acquired factors, such as liver disease or vitamin K deficiency.
The coagulation system is a complex process that involves various proteins called clotting factors. When there is an injury to a blood vessel, these clotting factors work together in a specific order to form a clot and prevent excessive bleeding. In coagulation protein disorders, one or more of these clotting factors are missing or not functioning properly, leading to abnormal bleeding or clotting.
There are several types of coagulation protein disorders, including:
1. Hemophilia: This is a genetic disorder that affects the clotting factor VIII or IX. People with hemophilia may experience prolonged bleeding after injuries, surgery, or dental work.
2. Von Willebrand disease: This is another genetic disorder that affects the von Willebrand factor, a protein that helps platelets stick together and form a clot. People with this condition may have nosebleeds, easy bruising, and excessive bleeding during menstruation or after surgery.
3. Factor XI deficiency: This is a rare genetic disorder that affects the clotting factor XI. People with this condition may experience prolonged bleeding after surgery or trauma.
4. Factor VII deficiency: This is a rare genetic disorder that affects the clotting factor VII. People with this condition may have nosebleeds, easy bruising, and excessive bleeding during menstruation or after surgery.
5. Acquired coagulation protein disorders: These are conditions that develop due to other medical factors, such as liver disease, vitamin K deficiency, or the use of certain medications. These disorders can affect one or more clotting factors and may cause abnormal bleeding or clotting.
Treatment for coagulation protein disorders depends on the specific condition and severity of symptoms. In some cases, replacement therapy with the missing clotting factor may be necessary to prevent excessive bleeding. Other treatments may include medications to control bleeding, such as desmopressin or antifibrinolytic agents, and lifestyle changes to reduce the risk of injury and bleeding.
Serum albumin is the most abundant protein in human blood plasma, synthesized by the liver. It plays a crucial role in maintaining the oncotic pressure or colloid osmotic pressure of blood, which helps to regulate the fluid balance between the intravascular and extravascular spaces.
Serum albumin has a molecular weight of around 66 kDa and is composed of a single polypeptide chain. It contains several binding sites for various endogenous and exogenous substances, such as bilirubin, fatty acids, hormones, and drugs, facilitating their transport throughout the body. Additionally, albumin possesses antioxidant properties, protecting against oxidative damage.
Albumin levels in the blood are often used as a clinical indicator of liver function, nutritional status, and overall health. Low serum albumin levels may suggest liver disease, malnutrition, inflammation, or kidney dysfunction.
A protein database is a type of biological database that contains information about proteins and their structures, functions, sequences, and interactions with other molecules. These databases can include experimentally determined data, such as protein sequences derived from DNA sequencing or mass spectrometry, as well as predicted data based on computational methods.
Some examples of protein databases include:
1. UniProtKB: a comprehensive protein database that provides information about protein sequences, functions, and structures, as well as literature references and links to other resources.
2. PDB (Protein Data Bank): a database of three-dimensional protein structures determined by experimental methods such as X-ray crystallography and nuclear magnetic resonance (NMR) spectroscopy.
3. BLAST (Basic Local Alignment Search Tool): a web-based tool that allows users to compare a query protein sequence against a protein database to identify similar sequences and potential functional relationships.
4. InterPro: a database of protein families, domains, and functional sites that provides information about protein function based on sequence analysis and other data.
5. STRING (Search Tool for the Retrieval of Interacting Genes/Proteins): a database of known and predicted protein-protein interactions, including physical and functional associations.
Protein databases are essential tools in proteomics research, enabling researchers to study protein function, evolution, and interaction networks on a large scale.
Protein sequence analysis is the systematic examination and interpretation of the amino acid sequence of a protein to understand its structure, function, evolutionary relationships, and other biological properties. It involves various computational methods and tools to analyze the primary structure of proteins, which is the linear arrangement of amino acids along the polypeptide chain.
Protein sequence analysis can provide insights into several aspects, such as:
1. Identification of functional domains, motifs, or sites within a protein that may be responsible for its specific biochemical activities.
2. Comparison of homologous sequences from different organisms to infer evolutionary relationships and determine the degree of similarity or divergence among them.
3. Prediction of secondary and tertiary structures based on patterns of amino acid composition, hydrophobicity, and charge distribution.
4. Detection of post-translational modifications that may influence protein function, localization, or stability.
5. Identification of protease cleavage sites, signal peptides, or other sequence features that play a role in protein processing and targeting.
Some common techniques used in protein sequence analysis include:
1. Multiple Sequence Alignment (MSA): A method to align multiple protein sequences to identify conserved regions, gaps, and variations.
2. BLAST (Basic Local Alignment Search Tool): A widely-used tool for comparing a query protein sequence against a database of known sequences to find similarities and infer function or evolutionary relationships.
3. Hidden Markov Models (HMMs): Statistical models used to describe the probability distribution of amino acid sequences in protein families, allowing for more sensitive detection of remote homologs.
4. Protein structure prediction: Methods that use various computational approaches to predict the three-dimensional structure of a protein based on its amino acid sequence.
5. Phylogenetic analysis: The construction and interpretation of evolutionary trees (phylogenies) based on aligned protein sequences, which can provide insights into the historical relationships among organisms or proteins.
Proteins are complex, large molecules that play critical roles in the body's functions. They are made up of amino acids, which are organic compounds that are the building blocks of proteins. Proteins are required for the structure, function, and regulation of the body's tissues and organs. They are essential for the growth, repair, and maintenance of body tissues, and they play a crucial role in many biological processes, including metabolism, immune response, and cellular signaling. Proteins can be classified into different types based on their structure and function, such as enzymes, hormones, antibodies, and structural proteins. They are found in various foods, especially animal-derived products like meat, dairy, and eggs, as well as plant-based sources like beans, nuts, and grains.
Hemoglobin (Hb or Hgb) is the main oxygen-carrying protein in the red blood cells, which are responsible for delivering oxygen throughout the body. It is a complex molecule made up of four globin proteins and four heme groups. Each heme group contains an iron atom that binds to one molecule of oxygen. Hemoglobin plays a crucial role in the transport of oxygen from the lungs to the body's tissues, and also helps to carry carbon dioxide back to the lungs for exhalation.
There are several types of hemoglobin present in the human body, including:
* Hemoglobin A (HbA): This is the most common type of hemoglobin, making up about 95-98% of total hemoglobin in adults. It consists of two alpha and two beta globin chains.
* Hemoglobin A2 (HbA2): This makes up about 1.5-3.5% of total hemoglobin in adults. It consists of two alpha and two delta globin chains.
* Hemoglobin F (HbF): This is the main type of hemoglobin present in fetal life, but it persists at low levels in adults. It consists of two alpha and two gamma globin chains.
* Hemoglobin S (HbS): This is an abnormal form of hemoglobin that can cause sickle cell disease when it occurs in the homozygous state (i.e., both copies of the gene are affected). It results from a single amino acid substitution in the beta globin chain.
* Hemoglobin C (HbC): This is another abnormal form of hemoglobin that can cause mild to moderate hemolytic anemia when it occurs in the homozygous state. It results from a different single amino acid substitution in the beta globin chain than HbS.
Abnormal forms of hemoglobin, such as HbS and HbC, can lead to various clinical disorders, including sickle cell disease, thalassemia, and other hemoglobinopathies.
Blood protein electrophoresis (BPE) is a laboratory test that separates and measures the different proteins in the blood, such as albumin, alpha-1 globulins, alpha-2 globulins, beta globulins, and gamma globulins. This test is often used to help diagnose or monitor conditions related to abnormal protein levels, such as multiple myeloma, macroglobulinemia, and other plasma cell disorders.
In this test, a sample of the patient's blood is placed on a special gel and an electric current is applied. The proteins in the blood migrate through the gel based on their electrical charge and size, creating bands that can be visualized and measured. By comparing the band patterns to reference ranges, doctors can identify any abnormal protein levels or ratios, which may indicate underlying medical conditions.
It's important to note that while BPE is a useful diagnostic tool, it should be interpreted in conjunction with other clinical findings and laboratory tests for accurate diagnosis and management of the patient's condition.
Computational biology is a branch of biology that uses mathematical and computational methods to study biological data, models, and processes. It involves the development and application of algorithms, statistical models, and computational approaches to analyze and interpret large-scale molecular and phenotypic data from genomics, transcriptomics, proteomics, metabolomics, and other high-throughput technologies. The goal is to gain insights into biological systems and processes, develop predictive models, and inform experimental design and hypothesis testing in the life sciences. Computational biology encompasses a wide range of disciplines, including bioinformatics, systems biology, computational genomics, network biology, and mathematical modeling of biological systems.
Protein folding is the process by which a protein molecule naturally folds into its three-dimensional structure, following the synthesis of its amino acid chain. This complex process is determined by the sequence and properties of the amino acids, as well as various environmental factors such as temperature, pH, and the presence of molecular chaperones. The final folded conformation of a protein is crucial for its proper function, as it enables the formation of specific interactions between different parts of the molecule, which in turn define its biological activity. Protein misfolding can lead to various diseases, including neurodegenerative disorders such as Alzheimer's and Parkinson's disease.
Protein conformation refers to the specific three-dimensional shape that a protein molecule assumes due to the spatial arrangement of its constituent amino acid residues and their associated chemical groups. This complex structure is determined by several factors, including covalent bonds (disulfide bridges), hydrogen bonds, van der Waals forces, and ionic bonds, which help stabilize the protein's unique conformation.
Protein conformations can be broadly classified into two categories: primary, secondary, tertiary, and quaternary structures. The primary structure represents the linear sequence of amino acids in a polypeptide chain. The secondary structure arises from local interactions between adjacent amino acid residues, leading to the formation of recurring motifs such as α-helices and β-sheets. Tertiary structure refers to the overall three-dimensional folding pattern of a single polypeptide chain, while quaternary structure describes the spatial arrangement of multiple folded polypeptide chains (subunits) that interact to form a functional protein complex.
Understanding protein conformation is crucial for elucidating protein function, as the specific three-dimensional shape of a protein directly influences its ability to interact with other molecules, such as ligands, nucleic acids, or other proteins. Any alterations in protein conformation due to genetic mutations, environmental factors, or chemical modifications can lead to loss of function, misfolding, aggregation, and disease states like neurodegenerative disorders and cancer.
The proteome is the entire set of proteins produced or present in an organism, system, organ, or cell at a certain time under specific conditions. It is a dynamic collection of protein species that changes over time, responding to various internal and external stimuli such as disease, stress, or environmental factors. The study of the proteome, known as proteomics, involves the identification and quantification of these protein components and their post-translational modifications, providing valuable insights into biological processes, functional pathways, and disease mechanisms.
An algorithm is not a medical term, but rather a concept from computer science and mathematics. In the context of medicine, algorithms are often used to describe step-by-step procedures for diagnosing or managing medical conditions. These procedures typically involve a series of rules or decision points that help healthcare professionals make informed decisions about patient care.
For example, an algorithm for diagnosing a particular type of heart disease might involve taking a patient's medical history, performing a physical exam, ordering certain diagnostic tests, and interpreting the results in a specific way. By following this algorithm, healthcare professionals can ensure that they are using a consistent and evidence-based approach to making a diagnosis.
Algorithms can also be used to guide treatment decisions. For instance, an algorithm for managing diabetes might involve setting target blood sugar levels, recommending certain medications or lifestyle changes based on the patient's individual needs, and monitoring the patient's response to treatment over time.
Overall, algorithms are valuable tools in medicine because they help standardize clinical decision-making and ensure that patients receive high-quality care based on the latest scientific evidence.
I am not aware of a widely accepted medical definition for the term "software," as it is more commonly used in the context of computer science and technology. Software refers to programs, data, and instructions that are used by computers to perform various tasks. It does not have direct relevance to medical fields such as anatomy, physiology, or clinical practice. If you have any questions related to medicine or healthcare, I would be happy to try to help with those instead!
An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.
Molecular models are three-dimensional representations of molecular structures that are used in the field of molecular biology and chemistry to visualize and understand the spatial arrangement of atoms and bonds within a molecule. These models can be physical or computer-generated and allow researchers to study the shape, size, and behavior of molecules, which is crucial for understanding their function and interactions with other molecules.
Physical molecular models are often made up of balls (representing atoms) connected by rods or sticks (representing bonds). These models can be constructed manually using materials such as plastic or wooden balls and rods, or they can be created using 3D printing technology.
Computer-generated molecular models, on the other hand, are created using specialized software that allows researchers to visualize and manipulate molecular structures in three dimensions. These models can be used to simulate molecular interactions, predict molecular behavior, and design new drugs or chemicals with specific properties. Overall, molecular models play a critical role in advancing our understanding of molecular structures and their functions.
Bipolar disorder, also known as manic-depressive illness, is a mental health condition that causes extreme mood swings that include emotional highs (mania or hypomania) and lows (depression). When you become depressed, you may feel sad or hopeless and lose interest or pleasure in most activities. When your mood shifts to mania or hypomania (a less severe form of mania), you may feel euphoric, full of energy, or unusually irritable. These mood swings can significantly affect your job, school, relationships, and overall quality of life.
Bipolar disorder is typically characterized by the presence of one or more manic or hypomanic episodes, often accompanied by depressive episodes. The episodes may be separated by periods of normal mood, but in some cases, a person may experience rapid cycling between mania and depression.
There are several types of bipolar disorder, including:
* Bipolar I Disorder: This type is characterized by the occurrence of at least one manic episode, which may be preceded or followed by hypomanic or major depressive episodes.
* Bipolar II Disorder: This type involves the presence of at least one major depressive episode and at least one hypomanic episode, but no manic episodes.
* Cyclothymic Disorder: This type is characterized by numerous periods of hypomania and depression that are not severe enough to meet the criteria for a full manic or depressive episode.
* Other Specified and Unspecified Bipolar and Related Disorders: These categories include bipolar disorders that do not fit the criteria for any of the other types.
The exact cause of bipolar disorder is unknown, but it appears to be related to a combination of genetic, environmental, and neurochemical factors. Treatment typically involves a combination of medication, psychotherapy, and lifestyle changes to help manage symptoms and prevent relapses.
Tertiary protein structure refers to the three-dimensional arrangement of all the elements (polypeptide chains) of a single protein molecule. It is the highest level of structural organization and results from interactions between various side chains (R groups) of the amino acids that make up the protein. These interactions, which include hydrogen bonds, ionic bonds, van der Waals forces, and disulfide bridges, give the protein its unique shape and stability, which in turn determines its function. The tertiary structure of a protein can be stabilized by various factors such as temperature, pH, and the presence of certain ions. Any changes in these factors can lead to denaturation, where the protein loses its tertiary structure and thus its function.
Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.
A mental disorder is a syndrome characterized by clinically significant disturbance in an individual's cognition, emotion regulation, or behavior. It's associated with distress and/or impaired functioning in social, occupational, or other important areas of life, often leading to a decrease in quality of life. These disorders are typically persistent and can be severe and disabling. They may be related to factors such as genetics, early childhood experiences, or trauma. Examples include depression, anxiety disorders, bipolar disorder, schizophrenia, and personality disorders. It's important to note that a diagnosis should be made by a qualified mental health professional.
Anxiety disorders are a category of mental health disorders characterized by feelings of excessive and persistent worry, fear, or anxiety that interfere with daily activities. They include several different types of disorders, such as:
1. Generalized Anxiety Disorder (GAD): This is characterized by chronic and exaggerated worry and tension, even when there is little or nothing to provoke it.
2. Panic Disorder: This is characterized by recurring unexpected panic attacks and fear of experiencing more panic attacks.
3. Social Anxiety Disorder (SAD): Also known as social phobia, this is characterized by excessive fear, anxiety, or avoidance of social situations due to feelings of embarrassment, self-consciousness, and concern about being judged or viewed negatively by others.
4. Phobias: These are intense, irrational fears of certain objects, places, or situations. When a person with a phobia encounters the object or situation they fear, they may experience panic attacks or other severe anxiety responses.
5. Agoraphobia: This is a fear of being in places where it may be difficult to escape or get help if one has a panic attack or other embarrassing or incapacitating symptoms.
6. Separation Anxiety Disorder (SAD): This is characterized by excessive anxiety about separation from home or from people to whom the individual has a strong emotional attachment (such as a parent, sibling, or partner).
7. Selective Mutism: This is a disorder where a child becomes mute in certain situations, such as at school, but can speak normally at home or with close family members.
These disorders are treatable with a combination of medication and psychotherapy (cognitive-behavioral therapy, exposure therapy). It's important to seek professional help if you suspect that you or someone you know may have an anxiety disorder.
Mood disorders are a category of mental health disorders characterized by significant and persistent changes in mood, affect, and emotional state. These disorders can cause disturbances in normal functioning and significantly impair an individual's ability to carry out their daily activities. The two primary types of mood disorders are depressive disorders (such as major depressive disorder or persistent depressive disorder) and bipolar disorders (which include bipolar I disorder, bipolar II disorder, and cyclothymic disorder).
Depressive disorders involve prolonged periods of low mood, sadness, hopelessness, and a lack of interest in activities. Individuals with these disorders may also experience changes in sleep patterns, appetite, energy levels, concentration, and self-esteem. In severe cases, they might have thoughts of death or suicide.
Bipolar disorders involve alternating episodes of mania (or hypomania) and depression. During a manic episode, individuals may feel extremely elated, energetic, or irritable, with racing thoughts, rapid speech, and impulsive behavior. They might engage in risky activities, have decreased sleep needs, and display poor judgment. In contrast, depressive episodes involve the same symptoms as depressive disorders.
Mood disorders can be caused by a combination of genetic, biological, environmental, and psychological factors. Proper diagnosis and treatment, which may include psychotherapy, medication, or a combination of both, are essential for managing these conditions and improving quality of life.
Tissue and organ procurement is the process of obtaining viable tissues and organs from deceased or living donors for the purpose of transplantation, research, or education. This procedure is performed by trained medical professionals in a sterile environment, adhering to strict medical standards and ethical guidelines. The tissues and organs that can be procured include hearts, lungs, livers, kidneys, pancreases, intestines, corneas, skin, bones, tendons, and heart valves. The process involves a thorough medical evaluation of the donor, as well as consent from the donor or their next of kin. After procurement, the tissues and organs are preserved and transported to recipients in need.
A living donor is a person who voluntarily donates an organ or part of an organ to another person while they are still alive. This can include donations such as a kidney, liver lobe, lung, or portion of the pancreas or intestines. The donor and recipient typically undergo medical evaluation and compatibility testing to ensure the best possible outcome for the transplantation procedure. Living donation is regulated by laws and ethical guidelines to ensure that donors are fully informed and making a voluntary decision.
A tissue donor is an individual who has agreed to allow organs and tissues to be removed from their body after death for the purpose of transplantation to restore the health or save the life of another person. The tissues that can be donated include corneas, heart valves, skin, bone, tendons, ligaments, veins, and cartilage. These tissues can enhance the quality of life for many recipients and are often used in reconstructive surgeries. It is important to note that tissue donation does not interfere with an open casket funeral or other cultural or religious practices related to death and grieving.
Brain death is a legal and medical determination that an individual has died because their brain has irreversibly lost all functions necessary for life. It is characterized by the absence of brainstem reflexes, unresponsiveness to stimuli, and the inability to breathe without mechanical support. Brain death is different from a vegetative state or coma, where there may still be some brain activity.
The determination of brain death involves a series of tests and examinations to confirm the absence of brain function. These tests are typically performed by trained medical professionals and may include clinical assessments, imaging studies, and electroencephalograms (EEGs) to confirm the absence of electrical activity in the brain.
Brain death is an important concept in medicine because it allows for the organ donation process to proceed, potentially saving the lives of others. In many jurisdictions, brain death is legally equivalent to cardiopulmonary death, which means that once a person has been declared brain dead, they are considered deceased and their organs can be removed for transplantation.
Oocyte donation is a medical procedure in which mature oocytes (or immature oocytes that are matured in the lab) are donated by one woman to another woman for the purpose of assisted reproduction. The recipient woman typically receives hormonal treatments to prepare her uterus for embryo implantation. The donated oocytes are then fertilized with sperm from the recipient's partner or a sperm donor in a laboratory, and the resulting embryos are transferred into the recipient's uterus.
Oocyte donation is often recommended for women who have poor ovarian function or who have a high risk of passing on genetic disorders to their offspring. It is also used in cases where previous attempts at in vitro fertilization (IVF) using the woman's own eggs have been unsuccessful.
The process of oocyte donation involves rigorous screening and evaluation of both the donor and recipient, including medical, psychological, and genetic evaluations, to ensure the safety and success of the procedure. The donor's ovaries are stimulated with hormonal medications to produce multiple mature oocytes, which are then retrieved through a minor surgical procedure.
Overall, oocyte donation is a complex and emotionally charged process that requires careful consideration and counseling for both the donor and recipient. It offers hope for many women who would otherwise be unable to conceive a biological child.
I'm sorry for any confusion, but "United States" is a geopolitical entity, specifically the name of the country consisting of 50 states, and it is not a medical term or concept. Therefore, I can't provide a medical definition for it. If you have any questions related to health, medicine, or biology, I would be happy to try to help answer those!
Presumed consent, in the context of medical and transplantation law, refers to a policy or practice where it is assumed that an individual gives consent for organ donation after death, unless they have explicitly opted out or expressed their objection prior to their death. This means that if there is no clear evidence of the deceased person's wishes regarding organ donation, it is presumed that they would have wanted to donate their organs to help save lives. Presumed consent systems aim to increase the number of available organs for transplantation and reduce the need for potential recipients to wait on transplant lists. However, such policies can be controversial, as they rely on assumptions about a deceased person's wishes, which may not always align with their true intentions or beliefs.
Diagnosis of schizophrenia
Hyperproteinemia
Population history of Egypt
Baxter International
Major trauma
Developmental Haemostasis
African iron overload
Glial fibrillary acidic protein
Flow cytometry
Hemoglobin Lepore syndrome
Comprehensive metabolic panel
CNTRL
TTP
Oklahoma Medical Research Foundation
Cryo
Protein toxicity
Hematologic disease
Acquired hemolytic anemia
List of side effects of tramadol
Dengue fever
PML
List of MeSH codes (C15)
Congenital hypofibrinogenemia
Complete blood count
FGF19
Konrad Plewa
William Drohan
Epstein-Barr virus latent membrane protein 2
Hypergammaglobulinemia
Red blood cell
Protein Disorders Causing Bruising or Bleeding - Blood Disorders - MSD Manual Consumer Version
Parathyroid hormone-related protein blood test: MedlinePlus Medical Encyclopedia
What is Sickle Cell Disease? | CDC
Protein C Deficiency: Practice Essentials, Pathophysiology, Etiology
Conjugated Estrogens Synthetic B (Oral Route) Description and Brand Names - Mayo Clinic
Diagnosis of schizophrenia - Wikipedia
Pomalidomide in Combination With Low-dose Dexamethasone or Pomalidomide in Combination With Low-dose Dexamethasone and...
How are birth defects diagnosed | Animated Toxicology Tool | ATSDR
Dieter P. Reinhardt | Anatomy and Cell Biology - McGill University
Partial thromboplastin time (PTT)
Factor VII assay: MedlinePlus Medical Encyclopedia
FDA Approves First Drug for Rare, Deadly Clotting Disorder
COVID vaccines 'must be halted immediately,' renowned toxicologist tells CDC - LifeSite
Jackabee: Beagle & Jack Russel Terrier - The Dogman
DeCS
Research/Blood from plants
In memoriam: Stephen Prescott
A Vioxx comeback? A startup eyes the drug for hemophilia - CBS News
Factor IX assay
Blood Pressure Disorders Drug Development Pipeline Review,
Dr David Diamond Statins - The Weston A. Price Foundation
Protein S blood test
Overview of Bleeding Caused by Abnormal Blood Vessels - Blood Disorders - Merck Manuals Consumer Version
Abnormal Protein Production (Paraproteinemia) in Dogs | PetCareRx
Key Q&A - HealthyWomen
Can I Donate an Organ to a Person With Cancer? | Cancer.Net
Estrogens Cream - Vaginal
S1PR3 News Research Articles
Satheesh Chonat | Children's Healthcare of Atlanta
Waiting for Sharon to awake - what next? - The Jerusalem Post
Deficiency17
- Protein C deficiency is a congenital or acquired condition that leads to increased risk for thrombosis. (medscape.com)
- Congenital protein C deficiency is one of several inherited thrombophilias, which are a heterogeneous group of genetic disorders associated with an elevated risk of venous thromboembolism. (medscape.com)
- Causes of acquired protein C deficiency are also addressed. (medscape.com)
- A deficiency of aPC disturbs the delicate balance between procoagulant and anticoagulant proteins and engenders a prothrombotic environment. (medscape.com)
- This may explain, in part, why protein C deficiency appears to be associated primarily with venous thrombosis. (medscape.com)
- Heterozygous protein C deficiency is inherited in an autosomal dominant fashion, however, in families with individuals with complete deficiency, the mode of inheritance is autosomal recessive. (medscape.com)
- [ 9 ] These mutations are divided into 2 types-type I and type II-on the basis of whether they cause a quantitative (type I) or functional (type II) deficiency of protein C. (medscape.com)
- Type I protein C deficiency refers to a quantitative deficiency in the plasma protein C concentration. (medscape.com)
- There is marked phenotypic variation among families with heterozygous type I protein C deficiency. (medscape.com)
- Type II protein C deficiency is less common than type I disease and is associated with decreased functional activity and normal immunologic levels of protein C. A number of point mutations within the protein C gene giving rise to this disorder have been described. (medscape.com)
- Under his leadership, the foundation discovered three drugs that are now used worldwide to treat sickle cell disease, certain rare blood disorders and protein C deficiency. (asbmb.org)
- Iron Deficiency Anemia Iron deficiency anemia results from low or depleted stores of iron, which is needed to produce red blood cells. (merckmanuals.com)
- The test is also used to screen relatives of people who are known to have protein S deficiency . (ucsfbenioffchildrens.org)
- A lack (deficiency) of protein S can lead to excess clotting. (ucsfbenioffchildrens.org)
- A protein S deficiency may be inherited. (ucsfbenioffchildrens.org)
- She searched databases and found a patient with Glut1 deficiency syndrome in whom the protein region contained a mutation creating the dileucine motif. (eurekalert.org)
- thus, PIGA mutations lead to a deficiency of GPI-anchored proteins, such as complement decay-accelerating factor (also known as CD55) and CD59 glycoprotein (CD59), which are both complement inhibitors. (medscape.com)
Causing Bruising or Bleeding1
- Protein Disorders Causing Bruising or Bleeding Conditions that cause an abnormal protein or an abnormal amount of certain normal proteins in the blood can cause blood vessels to become fragile. (merckmanuals.com)
Hemoglobin8
- Red blood cells contain hemoglobin, a protein that carries oxygen. (cdc.gov)
- In someone who has SCD, the hemoglobin is abnormal, which causes the red blood cells to become hard and sticky and look like a C-shaped farm tool called a "sickle. (cdc.gov)
- Thalassemia is a group of inherited blood disorders that affect the production of hemoglobin, the protein that carries oxygen in the blood. (tutorialspoint.com)
- Alpha thalassemia is caused by mutations in the genes that control the production of alpha globin, one of the two types of protein chains that make up hemoglobin. (tutorialspoint.com)
- Sickle cell anemia is an inherited blood disorder that cause the abnormal formation of the hemoglobin protein in red blood cells (Nih). (benjaminbarber.org)
- Hemoglobin is an essential protein that resides within the red blood cells supplying oxygen to the entire body. (benjaminbarber.org)
- Sickle cell disease is a group of inherited blood disorders that affects hemoglobin (the protein in red blood cells that carries oxygen throughout the body). (medlineplus.gov)
- The name of the disorder is a descriptive term for the clinical consequence of red blood cell (RBC) breakdown with release of hemoglobin into the urine, which manifests most prominently as dark-colored urine in the morning (see image below). (medscape.com)
Mutations4
- [ 7 , 8 ] The gene for protein C is located on the long arm of chromosome 2 and nearly 200 pathogenic mutations of this gene have been described. (medscape.com)
- Most genetic conditions are the result of mutations in the DNA, which alter the instructions for making a given protein. (healthywomen.org)
- Leonard, in collaboration with O'Shea, then demonstrated that the protein that is defective in XSCID associates with JAK3, and that humans with mutations in JAK3 have a form of immunodeficiency clinically similar to XSCID. (nih.gov)
- Clinical manifestations of PNH occur when a HSC clone carrying somatic PIGA mutations acquires a growth advantage and differentiates, generating mature blood cells that are deficient of GPI-anchored proteins. (medscape.com)
Diseases9
- The diagnosis of schizophrenia, a psychotic disorder, is based on criteria in either the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders, or the World Health Organization's International Classification of Diseases (ICD). (wikipedia.org)
- Hemic diseases include disorders involving the formed elements (e.g. (bvsalud.org)
- lymphatic diseases include disorders relating to lymph, lymph nodes, and lymphocytes. (bvsalud.org)
- Medical conditions that impact the production or processing of proteins include cancer, autoimmune diseases , and infectious diseases. (petcarerx.com)
- Genetic testing is used to confirm the presence of genetic diseases, as well as to measure your risk of developing a disease or of passing along a genetic disorder to a child.Today, there are hundreds of genetic tests, some of them for relatively common disorders, such as cystic fibrosis, and others for very rare diseases. (healthywomen.org)
- In addition, abnormal blood clotting contributes to the pathophysiology of many diseases, including cancer, infection, and autoimmune and inflammatory disorders. (unc.edu)
- In one-fifth of all genetic diseases, according to the scientist, the protein structure doesn't appear to be damaged at all. (eurekalert.org)
- It plays a crucial role in aligning the activities of all body parts and at risk of getting affected by various diseases or disorders. (selfgrowth.com)
- The implication of MT protein dysfunction has far-reaching implications for many diseases including Alzheimer's, eating disorders encountered in premature infants and a host of psychiatric disorders. (biowaves.com)
Metabolism3
- Hormones and disorders of mineral metabolism. (medlineplus.gov)
- Results: GO, KEGG, and COG/KOG functional enrichment analysis results showed the differentially expressed proteins participated in autophagy, autophagosome formation, cofactor binding, JAK-STAT signaling pathway, and coenzyme transport and metabolism. (bvsalud.org)
- The elevation of blood glucose leads to the development of abnormalities in the metabolism of carbohydrates, proteins, lipids and electrolytes. (who.int)
Clots5
- Dr. Lindsay noted that "all of the [COVID vaccine] gene therapies are causing" blood clots , as well. (lifesitenews.com)
- Spike protein incubated with human blood in vitro also caused blood clot development which was resistant to fibrinolysis" - a process that stops the growth of clots. (lifesitenews.com)
- You may need this test if you have an unexplained blood clot, or a family history of blood clots. (ucsfbenioffchildrens.org)
- A lack of this protein or problem with the function of this protein may cause blood clots to form in veins. (ucsfbenioffchildrens.org)
- This medication may rarely cause serious problems from blood clots (such as heart attacks, strokes, deep vein thrombosis, pulmonary embolism). (alberta.ca)
Hereditary connective tissue disorders1
- People inherit hereditary connective tissue disorders from one of their parents. (upmc.com)
Thrombosis1
- Individuals who are homozygous or compound heterozygous for a mutation or other genetic defect affecting the protein C, typically due to the inheritance of abnormal alleles from both parents, can experience neonatal purpura fulminans, intracranial thromboembolism, and thrombosis. (medscape.com)
Small blood vessels6
- Henoch-Schonlein purpura) is inflammation mainly of small blood vessels that occurs primarily in children. (msdmanuals.com)
- Healthy red blood cells are round, and they move through small blood vessels to carry oxygen to all parts of the body. (cdc.gov)
- Also, when they travel through small blood vessels, they get stuck and clog the blood flow. (cdc.gov)
- Immunoglobulin A-Associated Vasculitis Immunoglobulin A-associated vasculitis (formerly called Henoch-Schönlein purpura) is inflammation of mainly small blood vessels that most often occurs in children. (merckmanuals.com)
- an inflammation of small blood vessels that is common during childhood. (merckmanuals.com)
- Scleroderma - causes scar tissue to form in the skin, internal organs, and small blood vessels. (upmc.com)
Rare blood disorders2
- Dr. Chonat specializes in the care of children and young adults with nonmalignant rare blood disorders by using a variety of clinical and research-based tools. (choa.org)
- In addition to sotatercept, Acceleron's portfolio includes REBLOZYL ® (luspatercept-aamt), a first-in-class erythroid maturation recombinant fusion protein approved in the United States, Europe, Canada and Australia for the treatment of anemia in certain rare blood disorders. (pharmiweb.com)
Symptoms10
- Treatment of the underlying disorder may reduce these symptoms. (msdmanuals.com)
- Only two symptoms are required for a diagnosis of schizophrenia, resulting in different presentations for the same disorder. (wikipedia.org)
- Most people with high blood pressure have no signs or symptoms, even if blood pressure readings reach dangerously high levels. (openpr.com)
- Although a few people with early-stage high blood pressure may have dull headaches, dizzy spells or a few more nosebleeds than normal, these signs and symptoms typically do not occur until high blood pressure has reached a severe stage. (openpr.com)
- Usually, doctors can determine whether bleeding is due to abnormal blood vessels based on symptoms and an examination. (merckmanuals.com)
- Veterans with severe PTSD symptoms had lower levels of the S1PR3 protein in their blood than peers without the disorder. (neurosciencenews.com)
- In other cases, where two alleles are missing, there are some symptoms such as smaller than normal red blood cells (microcytic anemia). (tutorialspoint.com)
- There are more than 200 different types of connective tissue disorders, with different causes and symptoms. (upmc.com)
- Symptoms of connective tissue disorders vary based on the specific type you have. (upmc.com)
- Bipolar disorder patients with greater resilience had less severe symptoms, more positive attitudes toward medication treatment, and better social support and functioning. (psychiatrist.com)
People with hemophilia3
- Consequently, it's a much-needed protein for people with hemophilia and other blood-clotting disorders. (valentine.gr)
- People with hemophilia have low amounts of either factor VIII (eight) or factor IX (nine), key factors responsible for normal blood clotting. (cdc.gov)
- In people with hemophilia, there is a mutation (difference from normal) in either the gene for the factor VIII protein or the gene for the factor IX protein. (cdc.gov)
Gene9
- A range of causative genetic alterations within the protein C promoter region and splice sites as well as in the coding sequence of the protein C gene itself have been reported. (medscape.com)
- Congenital TPP affects fewer than 1000 people in the United States and is caused by a mutation in the ADAMTS13 gene, which makes an enzyme that regulates blood clotting. (medscape.com)
- All gene therapy vaccines direct the body to make the spike protein," she said. (lifesitenews.com)
- In addition to studying genes, genetic testing in a broader sense includes biochemical tests for the presence or absence of key proteins that signal aberrant gene function. (healthywomen.org)
- If the body has an alteration in the gene that makes the protein AAT, the AAT protein may not be made correctly or at all. (healthywomen.org)
- If only one copy of a given gene has a mutation, you are a healthy carrier of the disorder. (healthywomen.org)
- An example is a mutation in the gene for the Glut1 protein that causes two specific building blocks of protein, namely leucines, to lie next to one another, creating a so-called dileucine motif. (eurekalert.org)
- Latest achievements involve production of medically important proteins like anti-clotting factors through expression of the gene in lactating cows, goats and pigs. (freeonlineresearchpapers.com)
- We tested various specimens (blood, cerebrospinal fluid, intraocular fluid, serum, and tissues) from the organ donor and recipients by serology, RT-PCR, immunohistochemistry, metagenomic next-generation sequencing, and host gene expression, and conducted a traceback of blood transfusions received by the organ donor. (cdc.gov)
Body's2
- Antibodies One of the body's lines of defense ( immune system) involves white blood cells (leukocytes) that travel through the bloodstream and into tissues, searching for and attacking microorganisms and. (msdmanuals.com)
- Since the dog's body depends so heavily on proteins for proper operation, any problem with protein synthesis can seriously disrupt the body's regular functions. (petcarerx.com)
Lungs5
- PAH is a type of high blood pressure that occurs in the right side of the heart and in the arteries that supply blood to the lungs. (openpr.com)
- For example, a protein called alpha-1 antitrypsin (AAT) clears the lungs of a caustic agent called neutrophil elastase. (healthywomen.org)
- Daily blood tests, daily steroid shots to develop the baby's lungs, and daily ultrasounds. (today.com)
- PE, which develops when part of a blood clot breaks loose and travels to the lungs, is fatal in 30% of cases. (lightgreenstairs.com)
- Eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome) - affects cells in the blood vessels of the lungs, gastrointestinal track, skin, and nerves. (upmc.com)
Thrombotic3
- Laboratory evaluation of hemostatic and thrombotic disorders. (medlineplus.gov)
- The US Food and Drug Administration (FDA) has approved the biologic Adzynma ( ADAMTS13, recombinant-krhn , Takeda Pharmaceuticals) to treat adults and children who have a rare and life-threatening blood clotting disorder called congenital thrombotic thrombocytopenic purpura (TTP). (medscape.com)
- Dr. Chonat is the site investigator for various clinical and translational research projects, focused on rare red blood disorders, such as pyruvate kinase disease, thrombotic thrombocytopenic purpura and paroxysmal nocturnal hemoglobinuria. (choa.org)
Hemophilia4
- Now tiny Tremeau Pharmaceuticals is working to bring back it back, to treat severe joint pain caused by the bleeding disorder hemophilia. (cbsnews.com)
- In the U.S., just over 20,000 people have hemophilia, an inherited disorder that leaves them without key proteins in the blood needed for clotting. (cbsnews.com)
- Hemophilia is a bleeding disorder in which blood does not clot properly. (cdc.gov)
- Thus, if a male has a hemophilia allele on his only X chromosome, he will have the disorder. (cdc.gov)
Diagnosis3
- Diagnosis − The diagnosis is based on the examination of a smear of blood that shows very small red blood cells. (tutorialspoint.com)
- Diagnosis − Beta thalassemia is diagnosed by looking for hemolytic anemia by examining a red blood cell smear under the microscope. (tutorialspoint.com)
- The principal studies used to establish the diagnosis of PNH are flow cytometry of peripheral blood and bone marrow analysis. (medscape.com)
Individuals With Bipolar Disorder1
- This project aims to translate the known biology of bipolar disorder, enhance the accessibility of the latest discoveries and interpret the meaning and relevance to individuals with bipolar disorder, their families, carers and health professionals that are not research active. (hrb.ie)
Severe5
- [ 13 ] The presence of a second thrombophilic mutation such as factor V Leiden has been associated with a more severe phenotype in some protein C-deficient kindreds. (medscape.com)
- If something goes wrong with an essential protein, the consequences can be severe. (healthywomen.org)
- Miniscule changes in previously little-noticed flexible segments of the Glut1 protein could lead to severe cellular disturbances - other genetic disorders might be caused by the same mechanism. (eurekalert.org)
- In bipolar disorder patients currently receiving treatment, a history of childhood trauma was associated with more severe depression. (psychiatrist.com)
- Subsequent studies carried out at the National Heart, Lung, and Blood Institute (NHLBI), in collaboration with the NIAMS, showed that genetic defects in JAK3 can cause severe combined immunodeficiency. (nih.gov)
Bipolar disorder6
- Bipolar Disorder, characterized by mood swings from manic highs to depressive lows, is a complex psychiatric condition that requires nuanced understanding and care. (psychiatrist.com)
- The Journal of Clinical Psychiatry offers in-depth insights into bipolar disorder, from diagnostic challenges to evidence-based treatment strategies. (psychiatrist.com)
- Bipolar disorder presents on a spectrum, with bipolar depression on one end and bipolar I on the other and a host of other presentations in between. (psychiatrist.com)
- Bipolar disorder is associated with inflammation and is a highly heritable illness. (psychiatrist.com)
- The objective of this study was to evaluate the level of disability in patients with bipolar disorder and identify an association between sociodemographic and clinical variables and disability. (psychiatrist.com)
- An extensive range of tests is indicated, because bipolar disorder encompasses both depression and mania and because a significant number of medical causes for each state exists. (medscape.com)
Sickle3
- Sickle cell disease (SCD) is a group of inherited red blood cell disorders. (cdc.gov)
- The sickle cells die early, which causes a constant shortage of red blood cells. (cdc.gov)
- In 2022, researchers supported by the National Heart, Lung, and Blood Institute (NHLBI) conducted a health care spending analysis that recognized the hefty medical costs of living with sickle cell disease. (medlineplus.gov)
Affects5
- This disorder primarily affects women. (msdmanuals.com)
- These include a protein in the blood that isn't usually there, called monoclonal gammopathies, a rare form of myeloma that affects the bones, lymphoma and the rare disease amyloidosis. (mayoclinic.org)
- Microscopic polyangiitis - affects cells in the blood vessels in organs throughout the whole body. (upmc.com)
- Neuromyelitis optica spectrum disorder (NMOSD) is a disorder of the central nervous system that majorly affects the nerves of eyes (optic neuritis) and the spinal cord (myelitis). (selfgrowth.com)
- Heart disease is a term for any type of disorder that affects the heart. (benjaminbarber.org)
Mutation2
- In such cases, she says, the mutation occurs in flexible loops in the proteins, which until recently were thought to have no function because they lack a defined structure. (eurekalert.org)
- Could it be that in people affected by this mutation the Glut1 protein is not defective but has instead ended up in the wrong place in the cell? (eurekalert.org)
Spinal fluid1
- In the condition of NMOSD, there is an increased level of white blood cells in spinal fluid observed. (selfgrowth.com)
Clot properly2
- It can help tell if you have a bleeding problem or if your blood does not clot properly. (ucsfhealth.org)
- You may need this test if you have problems with bleeding or your blood does not clot properly. (ucsfhealth.org)
Anticoagulant2
- The role of aPC and other anticoagulant proteins in this balance appears to be especially important in the slow-flowing venous circulation, in which procoagulant proteins and platelet phospholipids have prolonged exposure to the vessel wall. (medscape.com)
- A poor anticoagulant response to activated protein C (APC) in an activated partial thromboplastin time (aPTT) assay (APC resistance) was recently reported to be a cause of familial thrombophilia. (nih.gov)
Inflammation7
- Overview of Vasculitis Vasculitic disorders are caused by inflammation of the blood vessels (vasculitis). (msdmanuals.com)
- by inflammation related to high levels of immunoglobulins in the blood. (msdmanuals.com)
- Doctors treat the joint pain caused by the blood vessel inflammation with pain medications. (msdmanuals.com)
- He also helped invent a method of screening for agents that regulate the shedding of membrane-bound proteins by enhancing or inhibiting the activity of DGK-delta, as well as methods of regulating inflammation and cell growth and division by applying these agents, which can be useful for treating cancer. (asbmb.org)
- Connective tissue disorders cause inflammation in collagen and elastin, two main types of protein that keep connective tissues strong. (upmc.com)
- This inflammation can damage blood vessels, which consist of connective tissue. (upmc.com)
- In 1993, shortly after O'Shea and his team discovered the JAK3 protein and established its role in inflammation, O'Shea learned that scientists at Pfizer were searching for drug targets to tackle autoimmunity and transplant rejection. (nih.gov)
Transfusions4
- Some people require blood transfusions. (merckmanuals.com)
- Sometimes a stem cell transplant while the fetus is in utero can cure them, or else the patient will need lifelong transfusions and potentially chelation therapy to remove excess iron from the blood. (tutorialspoint.com)
- Treatment may require blood transfusions, and chelation therapy to remove excess iron due to the transfusions, and in some cases, spleen removal is needed. (tutorialspoint.com)
- A pair of separate studies suggest the experimental drug luspatercept can help improve red blood cell production, reducing the need for transfusions in patients with anemia arising from different causes. (hematology.org)
Thyroid disorders1
- Endocrine disorders: Abnormal protein production can affect hormone production or regulation, leading to conditions such as diabetes or thyroid disorders. (petcarerx.com)
Hematology2
- Lindsay cited a paper published in the Journal of Hematology & Oncology in 2020, which showed that infusing spike proteins led to blood disorders in mice. (lifesitenews.com)
- San Diego, December 1, 2018) - Today during the 60th American Society of Hematology (ASH) Annual Meeting and Exposition in San Diego, researchers will present the results of four large trials that evaluate promising new treatment options for patients with several types of malignant and non-cancerous blood disorders. (hematology.org)
Urine3
- Preeclampsia is a pregnancy disorder characterized by high blood pressure and protein in the urine. (today.com)
- Appropriate supplementation as indicated by hair analysis, blood and urine testing or Bio-Resonance evaluation. (biowaves.com)
- Preeclampsia is a serious pregnancy disorder marked by elevated blood pressure and the presence of proteins in urine. (cdc.gov)
Connective11
- Sjögren Syndrome Sjögren syndrome is a common autoimmune connective tissue disorder and is characterized by excessive dryness of the eyes, mouth, and other mucous membranes. (msdmanuals.com)
- Systemic Lupus Erythematosus (SLE) Systemic lupus erythematosus is a chronic autoimmune inflammatory connective tissue disorder that can involve joints, kidneys, skin, mucous membranes, and blood vessel walls. (msdmanuals.com)
- Ehlers-Danlos Syndromes Ehlers-Danlos syndromes are rare hereditary disorders of connective tissue that result in unusually flexible joints, very elastic skin, and fragile tissues. (merckmanuals.com)
- Pseudoxanthoma Elasticum Pseudoxanthoma elasticum is a rare hereditary disorder of connective tissue that causes abnormalities in the skin, eyes, and blood vessels. (merckmanuals.com)
- Connective tissue disorders are a weakening of the blood vessel walls and other tissues. (upmc.com)
- The experts at the UPMC Heart and Vascular Institute use the latest treatments to help people manage connective tissue disorders. (upmc.com)
- What Is a Connective Tissue Disorder? (upmc.com)
- Most connective tissue disorders fall under two main types: hereditary and autoimmune. (upmc.com)
- Doctors don't know the exact cause of autoimmune connective tissue disorders. (upmc.com)
- People with a family history of connective tissue disorders may have a higher risk. (upmc.com)
- Each type of connective tissue disorder requires a specific treatment. (upmc.com)
Factor VIII protein1
- Dr. Brian Hooker is the man who's been working on cultivating the factor VIII protein. (valentine.gr)
Autoimmune disorders2
- Immune system disorders: Very high globulin in dogs can trigger an immune response, leading to autoimmune disorders such as lupus or rheumatoid arthritis. (petcarerx.com)
- Many people who developed this disease were already suffering from some other autoimmune disorders. (selfgrowth.com)
Pregnancy3
- The mother's blood can be tested during the first three months of pregnancy to look for proteins in the blood that suggest certain chromosomal disorders, such as Down syndrome. (cdc.gov)
- Dr. Lindsay warned that the vaccines could hinder production of syncytin, a crucial protein for fertility and pregnancy, and negatively impact pregnancy outcomes as a result. (lifesitenews.com)
- From the abstract: 'A blood test done in early pregnancy that measures cell-free DNA methylation could represent a novel way to predict the risk of preterm pre-eclampsia. (cdc.gov)
Glucose5
- They cause the Glut1 protein to lose its function in the cell membrane: the protein no longer transports glucose from the blood into the brain. (eurekalert.org)
- In tests on cell cultures Meyer showed that the mutated Glut1 protein was no longer present on the cell surface, where it takes up glucose. (eurekalert.org)
- Meyer was able to confirm her hypothesis: When she blocked this process, the Glut1 protein found its way back to the cell surface and resumed glucose uptake. (eurekalert.org)
- People who live to 100 years have lower measures of creatinine, glucose and uric acid in their blood compared to those with a comparatively shorter lifespan, researchers say. (medicaldaily.com)
- In addition, atypical antipsychotics have been associated with weight gain and problems with blood glucose regulation in patients with diabetes, therefore, a baseline fasting glucose should be obtained. (medscape.com)
Bleeding9
- If you are taking any blood-thinning medicines, you will be watched for signs of bleeding. (ucsfhealth.org)
- This test is used to find the cause of abnormal bleeding (decreased blood clotting). (medlineplus.gov)
- Researchers are synthesizing human coagulation factor VIII, an ingredient in human blood that helps stop bleeding. (valentine.gr)
- This test is used to find the cause of too much bleeding (decreased blood clotting). (ucsfbenioffchildrens.org)
- When collagen is abnormal or abnormal substances in the blood get into vessel walls, the vessels weaken and bleeding can develop. (merckmanuals.com)
- Fragile blood vessels cause bleeding under the skin, leading to tiny red, purple or brown spots on the skin (petechiae), slightly larger spots that look like bruises (purpura), or still larger areas of bruising (ecchymoses). (merckmanuals.com)
- Hereditary Hemorrhagic Telangiectasia (HHT) Hereditary hemorrhagic telangiectasia is a hereditary disorder in which blood vessels are malformed, making them fragile and prone to bleeding. (merckmanuals.com)
- leading to an increased risk of bleeding in these disorders. (merckmanuals.com)
- Blood contains many proteins, called clotting factors, that can help to stop bleeding after injury or surgery. (cdc.gov)
Fragile blood vessels3
- When these fragile blood vessels break, people develop red or purple bruises (purpura) on the skin. (msdmanuals.com)
- Most disorders caused by fragile blood vessels do not cause serious blood loss. (merckmanuals.com)
- When these fragile blood vessels break, people. (merckmanuals.com)
Occurs3
- Schizophrenia occurs along with obsessive-compulsive disorder (OCD) considerably more often than could be explained by chance. (wikipedia.org)
- Low blood pressure, or hypotension, occurs when blood pressure during and after each heartbeat is much lower than usual. (openpr.com)
- It occurs when a blood clot forms inside a deep vein , often in the legs. (lightgreenstairs.com)
Mechanisms4
- The research themes rank around molecular mechanisms matrix proteins and fibers exert in disorders affecting blood vessels, bone, skin and adipose tissue. (mcgill.ca)
- We study cellular, biochemical, and biophysical mechanisms that mediate blood coagulation using state-of-the-art technologies including in vivo, ex vivo, and in vitro models. (unc.edu)
- Our goal is to advance understanding of molecular mechanisms that regulate normal biology, identify mechanisms that are altered in disease, and develop new treatments for disorders involving blood cells and proteins. (unc.edu)
- The characterization of susceptible proteins will increase our un-derstanding of the mechanisms of oxidative toxicity, and may prove useful as early indicators of oxidative protein damage. (cdc.gov)
Endocrine1
- Diabetes Mellitus is the most common of the endocrine disorders. (who.int)
Thinners3
- If the person is taking blood thinners, clotting takes longer. (ucsfhealth.org)
- This may include blood thinners. (ucsfbenioffchildrens.org)
- DVT is treated with blood thinners and close monitoring. (lightgreenstairs.com)
Rheumatoid arthritis1
- Unlike biologic treatments for rheumatoid arthritis - which are also DMARDs and target immune system proteins - tofacitinib is a pill, not an infusion or an injection. (nih.gov)
Genes5
- The genes carry a kind of blueprint which instructs an organism on how to create the protein. (valentine.gr)
- Using genetic engineering technology, Pacific Northwest researchers are transplanting applicable human genes into tobacco plants and producing blood factors. (valentine.gr)
- The genes on the chromosomes are responsible for making proteins, which direct our biological development and the activity of about 100 trillion cells in our bodies. (healthywomen.org)
- The genetic study showed promising results in "silencing" the genes that translate into tau protein, the primary component behind dementia. (medicaldaily.com)
- A person's genes provide the instructions on how to make proteins, such as factor VIII and factor IX. (cdc.gov)
Cells10
- White blood cells can infiltrate. (msdmanuals.com)
- We are interested how extracellular matrix proteins instruct cells to differentiate, migrate, and proliferate, and how cells sense normal and pathologically altered extracellular matrix. (mcgill.ca)
- These factors currently are made from human blood plasma or by painstakingly cultivating mammalian cells. (valentine.gr)
- And, unlike human blood donors or mammalian cells, plants provide a stable production source and yield much higher amounts of the desired blood factors. (valentine.gr)
- These abnormal proteins, otherwise known as paraproteins, are produced by abnormal plasma cells, which are a type of white blood cell. (petcarerx.com)
- Abnormal protein production can affect the proper functioning of blood cells, leading to conditions such as anemia or blood clotting disorders. (petcarerx.com)
- It checks how the sugar proteins are bound to the red blood cells. (medhelp.org)
- Since red blood cells live about 4 months, it gives an idea if you have had high blood sugar for the last 4 months. (medhelp.org)
- DLBCL is a type of non-Hodgkin lymphoma, a cancer of the white blood cells, that tends to grow quickly. (hematology.org)
- From this sample, doctors test the levels of antibodies, immune cells and proteins. (selfgrowth.com)
Organ3
- Doctors may do a blood test to look for the amyloid substance in the blood and also examine a sample of fat from the abdominal wall or of tissue from any affected organ to confirm amyloidosis. (msdmanuals.com)
- Organ dysfunction: Abnormal blood protein levels can affect the proper functioning of vital organs, such as the liver, kidneys, and heart. (petcarerx.com)
- 3 days before organ procurement, the organ donor received a blood transfusion from a donor who had received a yellow fever vaccine 6 days before blood donation. (cdc.gov)
Inflammatory1
- Another test for myelin oligodendrocyte glycoprotein (MOG-IgG) antibody is also used to check another inflammatory disorder that mimics NMOSD. (selfgrowth.com)
Vessel walls1
- Ehlers-Danlos syndrome - can affect the skin, joints, and blood vessel walls. (upmc.com)
20231
- Cite this: FDA Approves First Drug for Rare, Deadly Clotting Disorder - Medscape - Nov 10, 2023. (medscape.com)
Autosomal recessive1
- Such disorders are called autosomal recessive. (healthywomen.org)
Lifesaving treatments1
- Using plants to produce human blood proteins eliminates the possibility of transmitting disease along with lifesaving treatments. (valentine.gr)
Heart9
- An 11 to 13 week ultrasound, which creates a picture of the baby, will look for extra fluid which may suggest a birth defect of the heart or chromosomal disorder. (cdc.gov)
- This means the heart, brain, and other parts of the body do not get enough blood. (openpr.com)
- Kidney and heart transplants may also effectively treat this disorder. (cancer.net)
- Some cardiologists, mainly those who do not have access to Sharon's medical records, argue that it was not certain that his initial stroke - caused by a blood clot in the brain - was due to the little hole in his heart. (jpost.com)
- Autonomic nerves that control functions such as blood pressure, sweating, heart rate, digestion and bladder function. (mayoclinic.org)
- Regular follow-up with your doctor to check the health of your heart and blood vessels. (upmc.com)
- Drugs to slow your heart rate or block the production of certain proteins in your body. (upmc.com)
- An arrhythmia is when your heart cannot pump blood effectively. (benjaminbarber.org)
- Measurements include psychological and physiological measures [eg, heart rate variability (HRV), blood pressure, C-reactive protein)] obtained at three time intervals. (cdc.gov)
Enzyme2
- Its activation into the serine-protease-like enzyme, activated protein C (aPC), is catalyzed by thrombin when it is bound to the endothelial proteoglycan thrombomodulin. (medscape.com)
- Adzynma is the first recombinant protein product for preventive or on-demand enzyme replacement therapy for people with the blood clotting condition. (medscape.com)
Serum1
- Low serum protein levels found in patients who are depressed may be a result of not eating. (medscape.com)
Complement1
- The main focus of his laboratory research is to understand the role of complement (immune protein) in various blood disorders through pre-clinical animal models, patient samples and research laboratory-based methods. (choa.org)
Complications1
- Complications of abnormal blood clotting are the leading killer of Americans today. (unc.edu)
Interactions1
- Many cellular processes are based on such interactions between proteins. (eurekalert.org)
Clinical1
- Acceleron's lead therapeutic candidate, sotatercept, has a novel mechanism of action with the potential to improve short-term and/or long-term clinical outcomes in patients with pulmonary arterial hypertension (PAH), a progressive and life-threatening blood vessel disorder. (pharmiweb.com)
Cofactor1
- The catalytic activity of aPC is greatly enhanced by the vitamin K-dependent cofactor protein S. (medscape.com)
Bone3
- Bone marrow disorders. (mayoclinic.org)
- Treatment, especially with certain anticonvulsants, may depress the bone marrow-hence the need to check the red blood cell (RBC) and white blood cell (WBC) counts for signs of bone marrow suppression. (medscape.com)
- bone marrow analysis differentiates classic PNH from PNH secondary to other bone marrow disorders. (medscape.com)
Kinases1
- Molecular targets acted on by products in development for blood pressure disorders include angiotensin receptors, tyrosine protein kinases and phosphodiesterases. (openpr.com)
Dysfunction1
- It appears that he may have a MT protein dysfunction that is contributing to his eating disorder. (biowaves.com)
Mood Disorders3
- Lithium Beyond Bipolar Mood Disorders: A Hope or Hype? (psychiatrist.com)
- They found six proteins significantly associated with mood disorders including unipolar and bipolar depression. (medscape.com)
- These findings suggest that proteomic panels may be helpful in identifying and distinguishing mood disorders. (medscape.com)
Mental Disorders1
- Researchers and clinicians have long sought biological indicators for mental disorders, particularly for affective disorders. (medscape.com)
