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Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive genetic ciliopathy, that causes defects in the action of cilia lining the upper and lower respiratory tract, sinuses, Eustachian tube, middle ear, fallopian tube, and flagella of sperm cells. The alternative name of "immotile ciliary syndrome" is no longer favored as the cilia do have movement, but are merely inefficient or unsynchronized. When accompanied by situs inversus the condition is known as Kartagener syndrome. Respiratory epithelial motile cilia, which resemble microscopic "hairs" (although structurally and biologically unrelated to hair), are complex organelles that beat synchronously in the respiratory tract, moving mucus toward the throat. Normally, cilia beat 7 to 22 times per second, and any impairment can result in poor mucociliary clearance, with subsequent upper and lower respiratory infection. Cilia also are involved in other biological processes (such as nitric oxide production), currently the sub ...
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Mucus
Mucus (, ) is a slippery aqueous secretion produced by, and covering, mucous membranes. It is typically produced from cells found in mucous glands, although it may also originate from mixed glands, which contain both Serous fluid, serous and mucous cells. It is a viscous colloid containing inorganic ions, inorganic salts, antimicrobial enzymes (such as lysozymes), Antibody, immunoglobulins (especially Immunoglobulin A, IgA), and glycoproteins such as lactoferrin and mucins, which are produced by goblet cells in the mucous membranes and submucosal glands. Mucus covers the Epithelium, epithelial cells that interact with outside environment, serves to protect the linings of the respiratory system, respiratory, Digestion#Digestive system, digestive, and Genitourinary system, urogenital systems, and structures in the Visual system, visual and auditory systems from pathogenic Fungus, fungi, bacteria and viruses. Most of the mucus in the body is produced in the gastrointestinal tract. ...
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Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene ( autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known ...
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Hair
Hair is a protein filament that grows from follicles found in the dermis. Hair is one of the defining characteristics of mammals. The human body, apart from areas of glabrous skin, is covered in follicles which produce thick terminal and fine vellus hair. Most common interest in hair is focused on hair growth, hair types, and hair care, but hair is also an important biomaterial primarily composed of protein, notably alpha-keratin. Attitudes towards different forms of hair, such as hairstyles and hair removal, vary widely across different cultures and historical periods, but it is often used to indicate a person's personal beliefs or social position, such as their age, gender, or religion. Overview Meaning The word "hair" usually refers to two distinct structures: #the part beneath the skin, called the hair follicle, or, when pulled from the skin, the bulb or root. This organ is located in the dermis and maintains stem cells, which not only re-grow the hair afte ...
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Motile Cilia
The cilium (: cilia; ; in Medieval Latin and in anatomy, ''cilium'') is a short hair-like membrane protrusion from many types of eukaryotic cell. (Cilia are absent in bacteria and archaea.) The cilium has the shape of a slender threadlike projection that extends from the surface of the much larger cell body. Eukaryotic flagella found on sperm cells and many protozoans have a similar structure to motile cilia that enables swimming through liquids; they are longer than cilia and have a different undulating motion. There are two major classes of cilia: ''motile'' and ''non-motile'' cilia, each with two subtypes, giving four types in all. A cell will typically have one primary cilium or many motile cilia. The structure of the cilium core, called the axoneme, determines the cilium class. Most motile cilia have a central pair of single microtubules surrounded by nine pairs of double microtubules called a 9+2 axoneme. Most non-motile cilia have a 9+0 axoneme that lacks the centra ...
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Respiratory Epithelium
Respiratory epithelium, or airway epithelium, is ciliated pseudostratified columnar epithelium a type of columnar epithelium found lining most of the respiratory tract as respiratory mucosa, where it serves to moisten and protect the airways. It is not present in the vocal cords of the larynx, or the oropharynx and laryngopharynx, where instead the epithelium is stratified squamous. It also functions as a barrier to potential pathogens and foreign particles, preventing infection and tissue injury by the secretion of mucus and the action of mucociliary clearance. Structure The respiratory epithelium lining the upper respiratory airways is classified as ciliated pseudostratified columnar epithelium. This designation is due to the arrangement of the multiple cell types composing the respiratory epithelium. While all cells make contact with the basement membrane and are, therefore, a single layer of cells, their nuclei are not aligned in the same plane. Hence, it appear ...
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Situs Inversus
''Situs inversus'' (also called ''situs transversus'' or ''oppositus'') is a Congenital disorder, congenital condition in which the major Organ (anatomy), visceral organs are reversed or mirror image, mirrored from their normal positions. The normal arrangement of internal organs is known as ''situs solitus''. Although cardiac problems are more common, many people with ''situs inversus'' have no medical symptoms or complications resulting from the condition, and until the advent of modern medicine, it was usually undiagnosed. ''Situs inversus'' is found in about 0.01% of the population, or about 1 person in 10,000. In the most common situation, ''situs inversus totalis'', it involves complete transposition (right to left reversal) of all of the viscera. The heart is not in its usual position in the left chest, but is on the right, a condition known as ''dextrocardia'' (). Because the relationship between the organs is not changed, most people with ''situs inversus'' have no associa ...
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Sperm
Sperm (: sperm or sperms) is the male reproductive Cell (biology), cell, or gamete, in anisogamous forms of sexual reproduction (forms in which there is a larger, female reproductive cell and a smaller, male one). Animals produce motile sperm with a tail known as a flagellum, which are known as spermatozoa, while some red algae and fungi produce non-motile sperm cells, known as spermatia. Flowering plants contain non-motile sperm inside pollen, while some more basal plants like ferns and some gymnosperms have motile sperm. Sperm cells form during the process known as spermatogenesis, which in amniotes (reptiles and mammals) takes place in the seminiferous tubules of the testicles. This process involves the production of several successive sperm cell precursors, starting with spermatogonia, which Cellular differentiation, differentiate into spermatocytes. The spermatocytes then undergo meiosis, reducing their Ploidy, chromosome number by half, which produces spermatids. The sper ...
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Flagella
A flagellum (; : flagella) (Latin for 'whip' or 'scourge') is a hair-like appendage that protrudes from certain plant and animal sperm cells, from fungal spores ( zoospores), and from a wide range of microorganisms to provide motility. Many protists with flagella are known as flagellates. A microorganism may have from one to many flagella. A gram-negative bacterium '' Helicobacter pylori'', for example, uses its flagella to propel itself through the stomach to reach the mucous lining where it may colonise the epithelium and potentially cause gastritis, and ulcers – a risk factor for stomach cancer. In some swarming bacteria, the flagellum can also function as a sensory organelle, being sensitive to wetness outside the cell. Across the three domains of Bacteria, Archaea, and Eukaryota, the flagellum has a different structure, protein composition, and mechanism of propulsion but shares the same function of providing motility. The Latin word means " whip" to describe its ...
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Fallopian Tube
The fallopian tubes, also known as uterine tubes, oviducts or salpinges (: salpinx), are paired tubular sex organs in the human female body that stretch from the Ovary, ovaries to the uterus. The fallopian tubes are part of the female reproductive system. In other vertebrates, they are only called oviducts. Each tube is a muscular hollow organ that is on average between in length, with an external diameter of . It has four described parts: the intramural part, isthmus, ampulla, and infundibulum with associated fimbriae. Each tube has two openings: a proximal opening nearest to the uterus, and a distal opening nearest to the ovary. The fallopian tubes are held in place by the mesosalpinx, a part of the broad ligament mesentery that wraps around the tubes. Another part of the broad ligament, the mesovarium suspends the ovaries in place. An ovum, egg cell is transported from an ovary to a fallopian tube where it may be human fertilization, fertilized in the ampulla of the tube. ...
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Middle Ear
The middle ear is the portion of the ear medial to the eardrum, and distal to the oval window of the cochlea (of the inner ear). The mammalian middle ear contains three ossicles (malleus, incus, and stapes), which transfer the vibrations of the eardrum into waves in the fluid and membranes of the inner ear. The hollow space of the middle ear is also known as the tympanic cavity and is surrounded by the tympanic part of the temporal bone. The auditory tube (also known as the Eustachian tube or the pharyngotympanic tube) joins the tympanic cavity with the nasal cavity ( nasopharynx), allowing pressure to equalize between the middle ear and throat. The primary function of the middle ear is to efficiently transfer acoustic energy from compression waves in air to fluid–membrane waves within the cochlea. Structure Ossicles The middle ear contains three tiny bones known as the ossicles: '' malleus'', ''incus'', and '' stapes''. The ossicles were given their Latin names f ...
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Eustachian Tube
The Eustachian tube (), also called the auditory tube or pharyngotympanic tube, is a tube that links the nasopharynx to the middle ear, of which it is also a part. In adult humans, the Eustachian tube is approximately long and in diameter. It is named after the sixteenth-century Italian anatomist Bartolomeo Eustachi. In humans and other tetrapods, both the middle ear and the ear canal are normally filled with air. Unlike the air of the ear canal, however, the air of the middle ear is not in direct contact with the atmosphere outside the body; thus, a pressure difference can develop between the atmospheric pressure of the ear canal and the middle ear. Normally, the Eustachian tube is collapsed, but it gapes open with swallowing and with positive pressure, allowing the middle ear's pressure to adjust to the atmospheric pressure. When taking off in an aircraft, the ambient air pressure goes from higher (on the ground) to lower (in the sky). The air in the middle ear expands as ...
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Sinuses
Paranasal sinuses are a group of four paired air-filled spaces that surround the nasal cavity. The maxillary sinuses are located under the eyes; the frontal sinuses are above the eyes; the ethmoidal sinuses are between the eyes and the sphenoidal sinuses are behind the eyes. The sinuses are named for the facial bones and sphenoid bone in which they are located. Their role is disputed. Structure Humans possess four pairs of paranasal sinuses, divided into subgroups that are named according to the bones within which the sinuses lie. They are all innervated by branches of the trigeminal nerve (CN V). * The maxillary sinuses, the largest of the paranasal sinuses, are under the eyes, in the maxillary bones (open in the back of the semilunar hiatus of the nose). They are innervated by the maxillary nerve (CN V2). * The frontal sinuses, superior to the eyes, in the frontal bone, which forms the hard part of the forehead. They are innervated by the ophthalmic nerve (CN V1). * The ...
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