|
Alström Syndrome
Alström syndrome (AS), also called Alström–Hallgren syndrome, is a very rare autosomal recessive genetic disorder characterised by childhood obesity and multiple organ dysfunction. Symptoms include early-onset type 2 diabetes, cone-rod dystrophy resulting in blindness, sensorineural hearing loss and dilated cardiomyopathy. Endocrine disorders typically also occur, such as hypergonadotrophic hypogonadism and hypothyroidism, as well as acanthosis nigricans resulting from hyperinsulinemia. Developmental delay is seen in almost half of people with Alström syndrome. It is caused by mutations in the gene ''ALMS1'', which is involved in the formation of cellular Cilium, cilia, making Alström syndrome a ciliopathy. At least 239 disease-causing mutations in ''ALMS1'' have been described . Alström syndrome is sometimes confused with Bardet–Biedl syndrome, another ciliopathy which has similar symptoms, but Bardet–Biedl syndrome tends to have later onset in its symptoms, includes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Subcutaneous Tissue
The subcutaneous tissue (), also called the hypodermis, hypoderm (), subcutis, superficial fascia, is the lowermost layer of the integumentary system in vertebrates. The types of cells found in the layer are fibroblasts, adipose cells, and macrophages. The subcutaneous tissue is derived from the mesoderm, but unlike the dermis, it is not derived from the mesoderm's dermatome region. It consists primarily of loose connective tissue, and contains larger blood vessels and nerves than those found in the dermis. It is a major site of fat storage in the body. In arthropods, a hypodermis can refer to an epidermal layer of cells that secretes the chitinous cuticle. The term also refers to a layer of cells lying immediately below the epidermis of plants. Structure * Fibrous bands anchoring the skin to the deep fascia * Collagen and elastin fibers attaching it to the dermis * Fat is absent from the eyelids, clitoris, penis, much of pinna, and scrotum * Blood vessels on route to the der ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ciliopathy
A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function. Primary cilia are important in guiding the process of development, so abnormal ciliary function while an embryo is developing can lead to a set of malformations that can occur regardless of the particular genetic problem. The similarity of the clinical features of these developmental disorders means that they form a recognizable cluster of syndromes, loosely attributed to abnormal ciliary function and hence called ciliopathies. Regardless of the actual genetic cause, it is clustering of a set of characteristic physiological features which define whether a syndrome is a ciliopathy. Although ciliopathies are usually considered to involve proteins that localize to motile and/or immotile (primary) cilia or centrosomes, it is possible for ciliopathies to be associated with unexpected proteins such as XPNPEP3, which localizes to mitochondria bu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Carl-Henry Alström
Carl-Henry Alström (3 May 1907 – 1993) was a Swedish psychiatrist who described a syndrome now named for him, Alström syndrome, a hereditary disorder that characteristically includes obesity in childhood, nerve deafness, and retinal degeneration (due to atypical retinitis pigmentosa Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). As peripheral vision worsens, people may ...). External linksCarl-Henry Alströmbiographical sketch oWho Named It?site Alström Syndrome International 1907 births 1993 deaths Swedish psychiatrists 20th-century Swedish physicians {{psychiatrist-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cajuns
The Cajuns (; French: ''les Cadjins'' or ''les Cadiens'' ), also known as Louisiana ''Acadians'' (French: ''les Acadiens''), are a Louisiana French ethnicity mainly found in the U.S. state of Louisiana. While Cajuns are usually described as the descendants of the Acadian exiles who went to Louisiana over the course of '' Le Grand Dérangement'', Louisianians frequently use ''Cajun'' as a broad cultural term (particularly when referencing Acadiana) without necessitating descent from the deported Acadians. Although the terms ''Cajun'' and ''Creole'' today are often portrayed as separate identities, Louisianians of Cajun descent have historically been known as Creoles. Cajuns make up a significant portion of south Louisiana's population and have had an enormous impact on the state's culture. While Lower Louisiana had been settled by French colonists since the late 17th century, many Cajuns trace their roots to the influx of Acadian settlers after the Great Expulsion from their ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nova Scotia
Nova Scotia ( ; ; ) is one of the thirteen provinces and territories of Canada. It is one of the three Maritime provinces and one of the four Atlantic provinces. Nova Scotia is Latin for "New Scotland". Most of the population are native English-speakers, and the province's population is 969,383 according to the 2021 Census. It is the most populous of Canada's Atlantic provinces. It is the country's second-most densely populated province and second-smallest province by area, both after Prince Edward Island. Its area of includes Cape Breton Island and 3,800 other coastal islands. The Nova Scotia peninsula is connected to the rest of North America by the Isthmus of Chignecto, on which the province's land border with New Brunswick is located. The province borders the Bay of Fundy and Gulf of Maine to the west and the Atlantic Ocean to the south and east, and is separated from Prince Edward Island and the island of Newfoundland by the Northumberland and Cabot straits, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acadians
The Acadians (french: Acadiens , ) are an ethnic group descended from the French who settled in the New France colony of Acadia during the 17th and 18th centuries. Most Acadians live in the region of Acadia, as it is the region where the descendants of a few Acadians who escaped the Expulsion of the Acadians (aka The Great Upheaval / ''Le Grand Dérangement'') re-settled. Most Acadians in Canada continue to live in majority French-speaking communities, notably those in New Brunswick where Acadians and Francophones are granted autonomy in areas such as education and health. Acadia was one of the 5 regions of New France. Acadia was located in what is now Eastern Canada's Maritime provinces, as well as parts of Quebec and present-day Maine to the Kennebec River. It was ethnically, geographically and administratively different from the other French colonies and the French colony of Canada (modern-day Quebec). As a result, the Acadians developed a distinct history and culture. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Founder Effect
In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population. It was first fully outlined by Ernst Mayr in 1942, using existing theoretical work by those such as Sewall Wright. As a result of the loss of genetic variation, the new population may be distinctively different, both genotypically and phenotypically, from the parent population from which it is derived. In extreme cases, the founder effect is thought to lead to the speciation and subsequent evolution of new species. In the figure shown, the original population has nearly equal numbers of blue and red individuals. The three smaller founder populations show that one or the other color may predominate (founder effect), due to random sampling of the original population. A population bottleneck may also cause a founder effect, though it is not strictly a new population. The founder effect occurs wh ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney Failure
Kidney failure, also known as end-stage kidney disease, is a medical condition in which the kidneys can no longer adequately filter waste products from the blood, functioning at less than 15% of normal levels. Kidney failure is classified as either acute kidney failure, which develops rapidly and may resolve; and chronic kidney failure, which develops slowly and can often be irreversible. Symptoms may include leg swelling, feeling tired, vomiting, loss of appetite, and confusion. Complications of acute and chronic failure include uremia, high blood potassium, and volume overload. Complications of chronic failure also include heart disease, high blood pressure, and anemia. Causes of acute kidney failure include low blood pressure, blockage of the urinary tract, certain medications, muscle breakdown, and hemolytic uremic syndrome. Causes of chronic kidney failure include diabetes, high blood pressure, nephrotic syndrome, and polycystic kidney disease. Diagnosis of acute failure ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney Dialysis
Kidney dialysis (from Greek , , 'dissolution'; from , , 'through', and , , 'loosening or splitting') is the process of removing excess water, solutes, and toxins from the blood in people whose kidneys can no longer perform these functions naturally. This is referred to as renal replacement therapy. The first successful dialysis was performed in 1943. Dialysis may need to be initiated when there is a sudden rapid loss of kidney function, known as acute kidney injury (previously called acute renal failure), or when a gradual decline in kidney function, chronic kidney disease, reaches stage 5. Stage 5 chronic renal failure is reached when the glomerular filtration rate is 10–15% of normal, creatinine clearance is less than 10 mL per minute and uremia is present. Dialysis is used as a temporary measure in either acute kidney injury or in those awaiting kidney transplant and as a permanent measure in those for whom a transplant is not indicated or not possible.Pendse S, Singh A, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hearing Aids
A hearing aid is a device designed to improve hearing by making sound audible to a person with hearing loss. Hearing aids are classified as medical devices in most countries, and regulated by the respective regulations. Small audio amplifiers such as personal sound amplification products (PSAPs) or other plain sound reinforcing systems cannot be sold as "hearing aids". Early devices, such as ear trumpets or ear horns, were passive amplification cones designed to gather sound energy and direct it into the ear canal. Modern devices are computerised electroacoustic systems that transform environmental sound to make it audible, according to audiometrical and cognitive rules. Modern devices also utilize sophisticated digital signal processing to try and improve speech intelligibility and comfort for the user. Such signal processing includes feedback management, wide dynamic range compression, directionality, frequency lowering, and noise reduction. Modern hearing aids require confi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Corrective Lenses
A corrective lens is a lens (i.e. a transmissive optical device) that is typically worn in front of the eye to improve daily vision. The most common use is to treat refractive errors: myopia, hypermetropia, astigmatism, and presbyopia. Glasses or "spectacles" are worn on the face a short distance in front of the eye. Contact lenses are worn directly on the surface of the eye. Intraocular lenses are surgically implanted most commonly after cataract removal but can be used for purely refractive purposes. Prescription of corrective lenses Corrective lenses are typically prescribed by an ophthalmologist or an optometrist. The prescription consists of all the specifications necessary to make the lens. Prescriptions typically include the power specifications of each lens (for each eye). Strengths are generally prescribed in quarter- diopter steps (0.25 D) because most people cannot generally distinguish between smaller increments (e.g., eighth-diopter steps / 0.125 D). The u ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
