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Cystic Fibrosis And Race
Underrepresented populations, especially black and hispanic populations with cystic fibrosis are often not successfully diagnosed. This is in part due to the minimal dissemination of existing data on patients from these underrepresented groups. While white populations do appear to experience a higher frequency of cystic fibrosis, other ethnicities are also affected and not always by the same biological mechanisms. Thus, many healthcare and treatment options are less reliable or unavailable to underrepresented populations. This issue affects the level at which public health needs are being met across the world. Definition Cystic fibrosis (CF) is an autosomal recessive and monogenetic disorder. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR protein (Figure 1) serves to move chloride ions to the surface of cells to ensure proper hydration. When this protein becomes dysfunctional, the chloride ions are not present to t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein CFTR PDB 1xmi
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residues in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sinusitis
Sinusitis, also known as rhinosinusitis, is inflammation of the mucous membranes that line the sinuses resulting in symptoms that may include thick nasal mucus, a plugged nose, and facial pain. Other signs and symptoms may include fever, headaches, a poor sense of smell, sore throat, a feeling that phlegm is oozing out from the back of the nose to the throat along with a necessity to clear the throat frequently and frequent attacks of cough. Generally sinusitis starts off as a common viral infection like common cold. This infection generally subsides within 5 to 7 days. During this time the nasal structures can swell and facilitate the stagnation of fluids in sinuses that leads to acute sinusitis which lasts from 6th day of the infection to 15th day. From the 15th day to 45th day of the infection comes the subacute stage followed by chronic stage. Whenever a chronic stage patient's immunity takes a hit the infection moves to "acute on sinusitis" stage and moves back to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein Production
Protein production is the biotechnological process of generating a specific protein. It is typically achieved by the manipulation of gene expression in an organism such that it expresses large amounts of a recombinant gene. This includes the transcription of the recombinant DNA to messenger RNA (mRNA), the translation of mRNA into polypeptide chains, which are ultimately folded into functional proteins and may be targeted to specific subcellular or extracellular locations. Protein production systems (also known as expression systems) are used in the life sciences, biotechnology, and medicine. Molecular biology research uses numerous proteins and enzymes, many of which are from expression systems; particularly DNA polymerase for PCR, reverse transcriptase for RNA analysis, restriction endonucleases for cloning, and to make proteins that are screened in drug discovery as biological targets or as potential drugs themselves. There are also significant applications for expressio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Immunoreactive Trypsinogen
Measurement of immunoreactive trypsinogen (IRT) in blood of newborn babies is an assay in rapidly increasing use as a screening test for cystic fibrosis (CF). In CF, there is poor release from pancreatic ducts. Trypsinogen is a pancreatic enzyme precursor found in the blood that is elevated in most of those with CF at birth, regardless of whether their mutation is pancreatic sufficient or insufficient. The concentration of IRT is elevated in babies with CF since pancreatic ducts are partially blocked leading to abnormal enzyme drainage. Heterozygous carriers of cystic fibrosis can cause a raised IRT and it is therefore not diagnostic in isolation. IRT is measured in routine heel-prick blood taken for biochemical screening of all newborn infants born in the UK. This test is one of a number of completed in newborn screening (the "Guthrie Test"). In Australia it is known 94% of those with eventual diagnosis of CF have a positive IRT on newborn screen. Samples with a raised IRT (defined ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breedi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pulmonary Infection
Lower respiratory tract infection (LRTI) is a term often used as a synonym for pneumonia but can also be applied to other types of infection including lung abscess and acute bronchitis. Symptoms include shortness of breath, weakness, fever, coughing and fatigue. A routine chest X-ray is not always necessary for people who have symptoms of a lower respiratory tract infection. Influenza affects both the upper and lower respiratory tracts. Antibiotics are the first line treatment for pneumonia; however, they are neither effective nor indicated for parasitic or viral infections. Acute bronchitis typically resolves on its own with time. In 2015 there were about 291 million cases. These resulted in 2.74 million deaths down from 3.4 million deaths in 1990. This was 4.8% of all deaths in 2013. Bronchitis Bronchitis describes the swelling or inflammation of the bronchial tubes. Additionally, bronchitis is described as either acute or chronic depending on its presentation and i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein–energy Malnutrition
Protein–energy malnutrition (PEM), sometimes called protein-energy undernutrition (PEU), is a form of malnutrition that is defined as a range of conditions arising from coincident lack of dietary protein and/or energy (calories) in varying proportions. The condition has mild, moderate, and severe degrees. Types include: * Kwashiorkor (protein malnutrition predominant) * Marasmus (deficiency in calorie intake) * Marasmic kwashiorkor (marked protein deficiency and marked calorie insufficiency signs present, sometimes referred to as the most severe form of malnutrition) PEM is fairly common worldwide in both children and adults and accounts for about 250 000 deaths annually. In the industrialized world, PEM is predominantly seen in hospitals, is associated with disease, or is often found in the elderly."Dietary Reference Intake: The Essential Guide to Nutrient Requirements" published by the Institute of Medicine and available online at https://www.nap.edu/read/11537/chapter/14?te ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 7
Chromosome 7 is one of the 23 pairs of chromosomes in humans, who normally have two copies of this chromosome. Chromosome 7 spans about 159 million base pairs (the building material of DNA) and represents between 5 and 5.5 percent of the total DNA in cells. Genes Number of genes The following are some of the gene count estimates of human chromosome 7. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 7. For complete list, see the link in the infobox on the right. Diseases and disorders The following diseases are some of those related to ge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chloride Channel
Chloride channels are a superfamily of poorly understood ion channels specific for chloride. These channels may conduct many different ions, but are named for chloride because its concentration ''in vivo'' is much higher than other anions. Several families of voltage-gated channels and ligand-gated channels (e.g., the CaCC families) have been characterized in humans. Voltage-gated chloride channels display a variety of important physiological and cellular roles that include regulation of pH, volume homeostasis, organic solute transport, cell migration, cell proliferation and differentiation. Based on sequence homology the chloride channels can be subdivided into a number of groups. General functions Voltage-gated chloride channels are important for setting cell resting membrane potential and maintaining proper cell volume. These channels conduct or other anions such as . The structure of these channels are not like other known channels. The chloride channel subunits contain ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Meconium Ileus
Meconium is the earliest stool of a mammalian infant resulting from defecation. Unlike later feces, meconium is composed of materials ingested during the time the infant spends in the uterus: intestinal epithelial cells, lanugo, mucus, amniotic fluid, bile, and water. Meconium, unlike later feces, is viscous and sticky like tar – its color usually being a very dark olive green and it is almost odorless. When diluted in amniotic fluid, it may appear in various shades of green, brown, or yellow. It should be completely passed by the end of the first few days after birth, with the stools progressing toward yellow (digested milk). Clinical significance Meconium in amniotic fluid Meconium is normally retained in the infant's bowel until after birth, but sometimes it is expelled into the amniotic fluid (also called "amniotic liquor") prior to birth or during labor and delivery. The stained amniotic fluid (called "meconium liquor" or "meconium-stained liquor") is recognized by m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pulmonary
The lungs are the primary organs of the respiratory system in humans and most other animals, including some snails and a small number of fish. In mammals and most other vertebrates, two lungs are located near the backbone on either side of the heart. Their function in the respiratory system is to extract oxygen from the air and transfer it into the bloodstream, and to release carbon dioxide from the bloodstream into the atmosphere, in a process of gas exchange. Respiration is driven by different muscular systems in different species. Mammals, reptiles and birds use their different muscles to support and foster breathing. In earlier tetrapods, air was driven into the lungs by the pharyngeal muscles via buccal pumping, a mechanism still seen in amphibians. In humans, the main muscle of respiration that drives breathing is the diaphragm. The lungs also provide airflow that makes vocal sounds including human speech possible. Humans have two lungs, one on the left and one ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Arthropathy
An arthropathy is a disease of a joint. Types Arthritis is a form of arthropathy that involves inflammation of one or more joints, while the term arthropathy may be used regardless of whether there is inflammation or not. Joint diseases can be classified as follows: * Arthritis :* Infectious arthritis ::* Septic arthritis (infectious) ::* Tuberculosis arthritis ::* Reactive arthritis (indirectly) :*Noninfectious arthritis ::* Seronegative spondyloarthropathy: :::*Psoriatic arthritis :::* Ankylosing spondylitis ::*Rheumatoid arthritis:'' :::* Felty's syndrome ::* Juvenile idiopathic arthritis ::* Adult-onset Still's disease ::* Crystal arthropathy :::*Gout :::* Chondrocalcinosis ::*Osteoarthritis * Hemarthrosis (joint bleeding) * Synovitis is the medical term for inflammation of the synovial membrane. * Joint dislocation With ''arthropathy'' in the name * '' Reactive arthropathy'' (M02-M03) is caused by an infection, but not a direct infection of the synovial space. (See als ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
