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Achondroplastic
Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. It is the most common cause of dwarfism and affects about 1 in 27,500 people. In those with the condition, the arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of for males and for females. Other features can include an enlarged head with prominent forehead (frontal bossing) and underdevelopment of the midface (midface hypoplasia). Complications can include sleep apnea or recurrent ear infections. Achondroplasia includes the extremely rare short-limb skeletal dysplasia with severe combined immunodeficiency. Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (''FGFR3'') gene that results in its protein being overactive. Achondroplasia results in impaired endochondral bone growth (bone growth within cartilage). The disorder has an autosomal dominant mode ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dwarfism
Dwarfism is a condition of people and animals marked by unusually small size or short stature. In humans, it is sometimes defined as an adult height of less than , regardless of sex; the average adult height among people with dwarfism is . ''Disproportionate dwarfism'' is characterized by either Rhizomelia, short limbs or a short torso. In cases of ''proportionate dwarfism'', both the limbs and torso are unusually small. Intelligence is usually normal, and most people with it have a nearly normal life expectancy. People with dwarfism can usually bear children, although there are additional Pregnancy risks, risks to the mother and child depending upon the underlying condition. The most common and recognizable form of dwarfism in humans (comprising 70% of cases) is achondroplasia, a genetic disorder whereby the limbs are diminutive. Growth hormone deficiency is responsible for most other cases. There are many other less common causes. Treatment of the condition depends on the u ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Jason Acuña
Jason Shannon Acuña (born May 16, 1973), better known by his stage name Wee Man, is an American stunt performer, television personality, professional skateboarder, and actor. He is one of the stars of the reality comedy series ''Jackass (TV series), Jackass'' and the host of Fox Sports Net's skateboarding show ''54321''. Acuña has achondroplasia, a form of dwarfism. Life and career Born in Pisa, Italy, Acuña grew up in Torrance, California, and attended North High School (Torrance), North High School. He is of Mexican and German descent. He was the subscription manager for the skateboard magazine ''Big Brother (magazine), Big Brother''. His association with that magazine led him to become involved with the ''Jackass (tv series), Jackass'' television series in 2000. Acuña's ''Jackass'' antics include skating as an Oompa-Loompa, kicking himself in the head, dressing as a king while rolling Johnny Knoxville down a staircase in a red carpet, and doing deep-knee bends while h ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Support Groups
In a support group, members provide each other with various types of help, usually nonprofessional and nonmaterial, for a particular shared, usually burdensome, characteristic. Members with the same issues can come together for sharing coping strategies, to feel more empowered and for a sense of community. The help may take the form of providing and evaluating relevant information, relating personal experiences, listening to and accepting others' experiences, providing sympathetic understanding and establishing social networks. A support group may also work to inform the public or engage in advocacy. History Formal support groups may appear to be a modern phenomenon, but they supplement traditional fraternal organizations such as Freemasonry in some respects, and may build on certain supportive functions (formerly) carried out in (extended) families. Other types of groups formed to support causes, including causes outside of themselves, are more often called '' advocacy groups' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 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 pep ... [...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] |
Fibroblast Growth Factor Receptor 3
Fibroblast growth factor receptor 3 (FGFR-3) is a protein that in humans is encoded by the ''FGFR3'' gene. FGFR3 has also been designated as CD333 (cluster of differentiation 333). The gene, which is located on chromosome 4, location p16.3, is expressed in tissues such as the cartilage, brain, intestine, and kidneys. The FGFR3 gene produces various forms of the FGFR-3 protein; the location varies depending on the isoform of FGFR-3. Since the different forms are found within different tissues the protein is responsible for multiple growth factor interactions. Gain of function mutations in FGFR3 inhibits chondrocyte proliferation and underlies achondroplasia and hypochondroplasia. Function FGFR-3 is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein wou ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Short-limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare autosomal recessive type of achondroplasia which is characterized by short stature, bowing of the long bones, and generalized metaphyseal abnormalities alongside signs of SCID such as recurrent severe infections, failure to thrive, chronic diarrhea Diarrhea (American English), also spelled diarrhoea or diarrhœa (British English), is the condition of having at least three loose, liquid, or watery bowel movements in a day. It often lasts for a few days and can result in dehydration d ..., and a notable absence of T and B lymphocytes. Around 11 cases have been described in medical literature. References Cell surface receptor deficiencies Connective tissue diseases Growth disorders Rare diseases Immunodeficiency Genetic diseases and disorders Autosomal recessive disorders {{Genetic-disorder-stub} ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ear Infections
Otitis is a general term for inflammation in ear or ear infection, inner ear infection, middle ear infection of the ear, in both humans and other animals. When infection is present, it may be viral or bacterial. When inflammation is present due to fluid build up in the middle ear and infection is not present it is considered Otitis media with effusion. It is subdivided into the following: * ''Otitis externa'', external otitis, involves inflammation (either infectious or non-infectious) of the Ear canal, external auditory canal, sometimes extending to the Pinna (anatomy), pinna or Tragus (ear), tragus. Otitis externa can be acute or chronic. It can be fungal or bacterial. The most common aetiology of acute otitis externa is bacterial infection, while chronic cases are often associated with underlying skin diseases such as eczema or psoriasis. A third form, malignant otitis externa, or necrotising otitis externa, is a potentially life-threatening, invasive infection of the external au ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sleep Apnea
Sleep apnea (sleep apnoea or sleep apnœa in British English) is a sleep-related breathing disorder in which repetitive Apnea, pauses in breathing, periods of shallow breathing, or collapse of the upper airway during sleep results in poor ventilation and sleep disruption. Each pause in breathing can last for a few seconds to a few minutes and often occurs many times a night. A choking or snorting sound may occur as breathing resumes. Common symptoms include daytime sleepiness, snoring, and non restorative sleep despite adequate sleep time. Because the disorder disrupts normal sleep, those affected may experience sleepiness or feel tired during the day. It is often a chronic condition. Sleep apnea may be categorized as obstructive sleep apnea (OSA), in which breathing is interrupted by a blockage of air flow, central sleep apnea (CSA), in which regular unconscious breath simply stops, or a combination of the two. OSA is the most common form. OSA has four key contributors; these ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skull Bossing
Skull bossing is a descriptive term in medical physical examination indicating a protuberance of the skull, most often in the frontal bones of the forehead ("frontal bossing"). Although prominence of the skull bones may be normal, skull bossing may be associated with certain medical conditions, including nutritional, metabolic, hormonal, and hematologic disorders. Frontal bossing Frontal bossing is the development of an unusually pronounced forehead which may also be associated with a heavier than normal brow ridge. It is caused by enlargement of the frontal bone, often in conjunction with abnormal enlargement of other facial bones, skull, mandible, and bones of the hands and feet. Frontal bossing may be seen in a few rare medical syndromes such as acromegaly – a chronic medical disorder in which the anterior pituitary gland produces excess growth hormone (GH). Frontal bossing may also occur in diseases resulting in chronic anemia, where there is increased hematopoiesis and enl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Macrocephaly
Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a Heredity, familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular Disorder (medicine), disorders. Those with benign or familial macrocephaly are considered to have megalencephaly. Causes Many people with abnormally large heads or large skulls are healthy, but macrocephaly may be pathological. Pathologic macrocephaly may be due to megalencephaly (enlarged brain), hydrocephalus (abnormally increased cerebrospinal fluid), cranial hyperostosis (bone overgrowth), and other conditions. Pathologic macrocephaly is called "syndromic", when it is associated with any other noteworthy condition, and "nonsyndromic" otherwise. Pathologic macrocephaly may be caused by congenital anatomic abnormalities, genetic conditions, or by environmental events. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Torso
The torso or trunk is an anatomical terminology, anatomical term for the central part, or the core (anatomy), core, of the body (biology), body of many animals (including human beings), from which the head, neck, limb (anatomy), limbs, tail and other appendages extend. The tetrapod torso — including that of a human body, human — is usually divided into the ''chest, thoracic'' segment (also known as the upper torso, where the forelimbs extend), the ''abdomen, abdominal'' segment (also known as the "mid-section" or "midriff"), and the ''pelvic'' and ''perineum, perineal'' segments (sometimes known together with the abdomen as the lower torso, where the hindlimbs extend). Anatomy Major organs In humans, most critical Organ (anatomy), organs, with the notable exception of the brain, are housed within the torso. In the upper chest, the heart and lungs are protected by the rib cage, and the abdomen contains most of the organs responsible for digestion: the stomach, which breaks ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
