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Cystic Fibrosis
Cystic fibrosis (CF) is a genetic disorder inherited in an autosomal recessive manner that impairs the normal clearance of Sputum, mucus from the lungs, which facilitates the colonization and infection of the lungs by bacteria, notably ''Staphylococcus aureus''. CF is a rare genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. The hallmark feature of CF is the accumulation of thick mucus in different organs. Long-term issues include Shortness of breath, difficulty breathing and coughing up mucus as a result of frequent pneumonia, lung infections. Other signs and symptoms may include Sinusitis, sinus infections, failure to thrive, poor growth, Steatorrhea, fatty stool, Nail clubbing, clubbing of the fingers and toes, and infertility in most males. Different people may have different degrees of symptoms. Cystic fibrosis is inherited in an autosomal recessive manner. It is caused by the presence of mutations in both copies (alleles) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cystic Fibrosis Transmembrane Conductance Regulator
Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel in vertebrates that is encoded by the ''CFTR'' gene. Geneticist Lap-Chee Tsui and his team identified the ''CFTR'' gene in 1989 as the gene linked with CF (cystic fibrosis). The ''CFTR'' gene codes for an ABC transporter-class ion channel protein that conducts chloride and bicarbonate ions across epithelial cell membranes. Mutations of the ''CFTR'' gene affecting anion channel function lead to dysregulation of epithelial lining fluid (mucus) transport in the lung, pancreas and other organs, resulting in cystic fibrosis. Complications include thickened mucus in the lungs with frequent respiratory infections, and pancreatic insufficiency giving rise to malnutrition and diabetes. These conditions lead to chronic disability and reduced life expectancy. In male patients, the progressive obstruction and destruction of the developing vas deferens (spermatic cord) and epididymis appe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lungs
The lungs are the primary organs of the respiratory system in many animals, including humans. In mammals and most other tetrapods, 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 atmosphere 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 musculoskeletal systems to support and foster breathing. In early tetrapods, air was driven into the lungs by the pharyngeal muscles via buccal pumping, a mechanism still seen in amphibians. In humans, the primary muscle that drives breathing is the diaphragm. The lungs also provide airflow that makes vocalisation including speech possible. Humans have two lungs, a right lung and a left lung. They are situated within the thoracic cavity of the c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sweat Test
The sweat test measures the concentration of chloride that is excreted in sweat. It is used to screen for cystic fibrosis (CF). Due to defective chloride channels ( CFTR), the concentration of chloride in sweat is elevated in individuals with CF. Background Cystic fibrosis is caused by defects in a protein found in many tissues, including the airways and the sweat glands. As a result, these tissues do not work properly. Sweat testing makes use of the fact that cystic fibrosis patients have defective sweat glands. Sweat glands produce sweat through a well understood process of secretion and reabsorption of sodium chloride (salt). Secretion entails the movement of salt and water from sweat gland cells into the sweat duct. Reabsorption occurs in the duct with the movement of salt from the sweat back into sweat duct cells. What remains is sweat, a salt solution with a relatively finely tuned concentration of sodium and chloride. For normal salt reabsorption to occur, individual ions o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Digestion
Digestion is the breakdown of large insoluble food compounds into small water-soluble components so that they can be absorbed into the blood plasma. In certain organisms, these smaller substances are absorbed through the small intestine into the blood stream. Digestion is a form of catabolism that is often divided into two processes based on how food is broken down: mechanical and chemical digestion. The term mechanical digestion refers to the physical breakdown of large pieces of food into smaller pieces which can subsequently be accessed by digestive enzymes. Mechanical digestion takes place in the mouth through Chewing, mastication and in the small intestine through segmentation contractions. In chemical digestion, enzymes break down food into the small compounds that the body can use. In the human digestive system, food enters the mouth and mechanical digestion of the food starts by the action of mastication (chewing), a form of mechanical digestion, and the wetting contact ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Infertility
In biology, infertility is the inability of a male and female organism to Sexual reproduction, reproduce. It is usually not the natural state of a healthy organism that has reached sexual maturity, so children who have not undergone puberty, which is the body's start of fertility, reproductive capacity, are excluded. It is also a normal state in women after menopause. In humans, ''infertility'' is defined as the inability to become pregnant after at least one year of unprotected and regular sexual intercourse involving a male and female partner. There are many causes of infertility, including some that Assisted reproductive technology, medical intervention can treat. Estimates from 1997 suggest that worldwide about five percent of all heterosexual couples have an unresolved problem with infertility. Many more couples, however, experience involuntary childlessness for at least one year, with estimates ranging from 12% to 28%. Male infertility is responsible for 20–30% of infert ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nail Clubbing
Nail clubbing, also known as digital clubbing or clubbing, is a deformity of the finger or toe Nail (anatomy), nails associated with a number of diseases, anomalies and defects, some congenital, mostly of the heart disease, heart and lung disease, lungs.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . When it occurs together with joint effusions, joint pains, and abnormal skin and bone growth it is known as hypertrophic osteoarthropathy. Clubbing is associated with lung cancer, lung infections, interstitial lung disease, cystic fibrosis, or cardiovascular disease. Clubbing may also run in families, and occur unassociated with other medical problems. Clubbing has been recognized as a sign of disease since the time of Hippocrates. Causes Clubbing is associated with * Lung disease: ** Lung cancer ** Interstitial lung disease most commonly idiopathic pulmonary fibrosis ** Complicated tuberculosis ** Suppurative lung disease: ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sinusitis
Sinusitis, also known as rhinosinusitis, is an inflammation of the mucous membranes that line the sinuses resulting in symptoms that may include production of thick nasal mucus, nasal congestion, facial congestion, facial pain, facial pressure, loss of smell, or fever. Sinusitis is a condition that affects both children and adults. It is caused by a combination of environmental and a person's individual health factors. It can occur in individuals with allergies, exposure to environmental irritants, structural abnormalities of the nasal cavity and sinuses and poor immune function. Most cases are caused by a viral infection. Recurrent episodes are more likely in persons with asthma, cystic fibrosis, and immunodeficiency. The diagnosis of sinusitis is based on the symptoms and their duration along with signs of disease identified by endoscopic and/or radiologic criteria. Sinusitis is classified into acute sinusitis, subacute sinusitis and chronic sinusitis. In acute sinusit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Symptom
Signs and symptoms are diagnostic indications of an illness, injury, or condition. Signs are objective and externally observable; symptoms are a person's reported subjective experiences. A sign for example may be a higher or lower temperature than normal, raised or lowered blood pressure or an abnormality showing on a medical scan. A symptom is something out of the ordinary that is experienced by an individual such as feeling feverish, a headache or other pains in the body, which occur as the body's immune system fights off an infection. Signs and symptoms Signs A medical sign is an objective observable indication of a disease, injury, or medical condition that may be detected during a physical examination. These signs may be visible, such as a rash or bruise, or otherwise detectable such as by using a stethoscope or taking blood pressure. Medical signs, along with symptoms, help in forming a diagnosis. Some examples of signs are nail clubbing of either the fingernail ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pneumonia
Pneumonia is an Inflammation, inflammatory condition of the lung primarily affecting the small air sacs known as Pulmonary alveolus, alveoli. Symptoms typically include some combination of Cough#Classification, productive or dry cough, chest pain, fever, and Shortness of breath, difficulty breathing. The severity of the condition is variable. Pneumonia is usually caused by infection with viruses or bacteria, and less commonly by other microorganisms. Identifying the responsible pathogen can be difficult. Diagnosis is often based on symptoms and physical examination. Chest X-rays, blood tests, and Microbiological culture, culture of the sputum may help confirm the diagnosis. The disease may be classified by where it was acquired, such as community- or hospital-acquired or healthcare-associated pneumonia. Risk factors for pneumonia include cystic fibrosis, chronic obstructive pulmonary disease (COPD), sickle cell disease, asthma, diabetes, heart failure, a history of smoking, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intestine
The gastrointestinal tract (GI tract, digestive tract, alimentary canal) is the tract or passageway of the digestive system that leads from the mouth to the anus. The tract is the largest of the body's systems, after the cardiovascular system. The GI tract contains all the major organs of the digestive system, in humans and other animals, including the esophagus, stomach, and intestines. Food taken in through the mouth is digested to extract nutrients and absorb energy, and the waste expelled at the anus as feces. ''Gastrointestinal'' is an adjective meaning of or pertaining to the stomach and intestines. Most animals have a "through-gut" or complete digestive tract. Exceptions are more primitive ones: sponges have small pores ( ostia) throughout their body for digestion and a larger dorsal pore ( osculum) for excretion, comb jellies have both a ventral mouth and dorsal anal pores, while cnidarians and acoels have a single pore for both digestion and excretion. The human gas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
