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Santavuori-Haltia Disease
Infantile neuronal ceroid lipofuscinoses (INCL) or Santavuori disease or Hagberg-Santavuori disease or Santavuori-Haltia disease or Infantile Finnish type neuronal ceroid lipofuscinosis or Balkan disease is a form of Neuronal ceroid lipofuscinosis, NCL and inherited as a recessive autosome, autosomal Genetics, genetic trait. The disorder is progressive, degenerative and fatal, extremely rare worldwide – with approximately 60 official cases reported by 1982, perhaps 100 with the condition in total today – but relatively common in Finland due to the local founder effect. Presentation The development of children born with INCL is normal for the first 8–18 months, but will then flounder and start to regress both physically and mentally. Motor skills and Speech communication, speech are lost, and optic atrophy causes blindness. A variety of neurological symptoms, such as epilepsy and myoclonic seizures, appear. The senses of hearing (sense), hearing and touch remain unaffected. The ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Endocrinology
Endocrinology (from '' endocrine'' + '' -ology'') is a branch of biology and medicine dealing with the endocrine system, its diseases, and its specific secretions known as hormones. It is also concerned with the integration of developmental events proliferation, growth, and differentiation, and the psychological or behavioral activities of metabolism, growth and development, tissue function, sleep, digestion, respiration, excretion, mood, stress, lactation, movement, reproduction, and sensory perception caused by hormones. Specializations include behavioral endocrinology and comparative endocrinology. The endocrine system consists of several glands, all in different parts of the body, that secrete hormones directly into the blood rather than into a duct system. Therefore, endocrine glands are regarded as ductless glands. Hormones have many different functions and modes of action; one hormone may have several effects on different target organs, and, conversely, one target orga ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epilepsy
Epilepsy is a group of non-communicable neurological disorders characterized by recurrent epileptic seizures. Epileptic seizures can vary from brief and nearly undetectable periods to long periods of vigorous shaking due to abnormal electrical activity in the brain. These episodes can result in physical injuries, either directly such as broken bones or through causing accidents. In epilepsy, seizures tend to recur and may have no immediate underlying cause. Isolated seizures that are provoked by a specific cause such as poisoning are not deemed to represent epilepsy. People with epilepsy may be treated differently in various areas of the world and experience varying degrees of social stigma due to the alarming nature of their symptoms. The underlying mechanism of epileptic seizures is excessive and abnormal neuronal activity in the cortex of the brain which can be observed in the electroencephalogram (EEG) of an individual. The reason this occurs in most cases of epilepsy is u ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cystagon
Cysteamine is a chemical compound that can be biosynthesized in mammals, including humans, by the degradation of coenzyme A. The intermediate pantetheine is broken down into cysteamine and pantothenic acid. It is the biosynthetic precursor to the neurotransmitter hypotaurine. It is a stable aminothiol, i.e., an organic compound containing both an amine and a thiol functional groups. Cysteamine is a white, water-soluble solid. It is often used as salts of the ammonium derivative SCH2CH2NH3sup>+ including the hydrochloride, phosphocysteamine, and bitartrate. As a medication, cysteamine, sold under the brand name Cystagon among others, is indicated to treat cystinosis. Medical uses Cysteamine is used to treat cystinosis. It is available by mouth (capsule and extended release capsule) and in eye drops. When applied topically it can scavenge free radicals and lighten skin that's been darkened as a result of post-inflammatory hyperpigmentation, sun exposure and Melasma. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Physiotherapy
Physical therapy (PT), also known as physiotherapy, is one of the allied health professions. It is provided by physical therapists who promote, maintain, or restore health through physical examination, diagnosis, management, prognosis, patient education, physical intervention, rehabilitation, disease prevention, and health promotion. Physical therapists are known as physiotherapists in many countries. In addition to clinical practice, other aspects of physical therapist practice include research, education, consultation, and health administration. Physical therapy is provided as a primary care treatment or alongside, or in conjunction with, other medical services. In some jurisdictions, such as the United Kingdom, physical therapists have the authority to prescribe medication. Overview Physical therapy addresses the illnesses or injuries that limit a person's abilities to move and perform functional activities in their daily lives. PTs use an individual's history and physic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Palmitoyl-protein Thioesterase
Palmitoyl protein hydrolase/thioesterases is an enzyme (EC 3.1.2.22) that removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. It catalyzes the reaction :palmitoyl rotein+ H2O \rightleftharpoons palmitate + protein This enzyme belongs to the family of hydrolases, specifically those acting on thioester bonds. The systematic name is palmitoyl roteinhydrolase. Other names in common use include palmitoyl-protein thioesterase, and palmitoyl-(protein) hydrolase. This enzyme participates in fatty acid elongation in mitochondria. Neuronal ceroid lipofuscinoses (NCL) represent a group of encephalopathies that occur in 1 in 12,500 children. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. The most common mutation results in intracellular accumulation of the polypeptide and undetectable enzyme activity in the brain. Direct sequencing of c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Touch
In physiology, the somatosensory system is the network of neural structures in the brain and body that produce the perception of touch (haptic perception), as well as temperature (thermoception), body position (proprioception), and pain. It is a subset of the sensory nervous system, which also represents visual, auditory, olfactory, and gustatory stimuli. Somatosensation begins when mechano- and thermosensitive structures in the skin or internal organs sense physical stimuli such as pressure on the skin (see mechanotransduction, nociception). Activation of these structures, or receptors, leads to activation of peripheral sensory neurons that convey signals to the spinal cord as patterns of action potentials. Sensory information is then processed locally in the spinal cord to drive reflexes, and is also conveyed to the brain for conscious perception of touch and proprioception. Note, somatosensory information from the face and head enters the brain through peripheral senso ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hearing (sense)
Hearing, or auditory perception, is the ability to perceive sounds through an organ, such as an ear, by detecting vibrations as periodic changes in the pressure of a surrounding medium. The academic field concerned with hearing is auditory science. Sound may be heard through solid, liquid, or gaseous matter. It is one of the traditional five senses. Partial or total inability to hear is called hearing loss. In humans and other vertebrates, hearing is performed primarily by the auditory system: mechanical waves, known as vibrations, are detected by the ear and transduced into nerve impulses that are perceived by the brain (primarily in the temporal lobe). Like touch, audition requires sensitivity to the movement of molecules in the world outside the organism. Both hearing and touch are types of mechanosensation. Hearing mechanism There are three main components of the human auditory system: the outer ear, the middle ear, and the inner ear. Outer ear The outer ear in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myoclonic Seizure
Myoclonus is a brief, involuntary, irregular (lacking rhythm) twitching of a muscle or a group of muscles, different from clonus, which is rhythmic or regular. Myoclonus (myo "muscle", clonic "jerk") describes a medical sign and, generally, is not a diagnosis of a disease. These myoclonic twitches, jerks, or seizures are usually caused by sudden muscle contractions (''positive myoclonus'') or brief lapses of contraction (''negative myoclonus''). The most common circumstance under which they occur is while falling asleep (hypnic jerk). Myoclonic jerks occur in healthy people and are experienced occasionally by everyone. However, when they appear with more persistence and become more widespread they can be a sign of various neurological disorders. Hiccups are a kind of myoclonic jerk specifically affecting the diaphragm. When a spasm is caused by another person it is known as a ''provoked spasm''. Shuddering attacks in babies fall in this category. Myoclonic jerks may occ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blindness
Visual impairment, also known as vision impairment, is a medical definition primarily measured based on an individual's better eye visual acuity; in the absence of treatment such as correctable eyewear, assistive devices, and medical treatment– visual impairment may cause the individual difficulties with normal daily tasks including reading and walking. Low vision is a functional definition of visual impairment that is chronic, uncorrectable with treatment or correctable lenses, and impacts daily living. As such low vision can be used as a disability metric and varies based on an individual's experience, environmental demands, accommodations, and access to services. The American Academy of Ophthalmology defines visual impairment as the best-corrected visual acuity of less than 20/40 in the better eye, and the World Health Organization defines it as a presenting acuity of less than 6/12 in the better eye. The term blindness is used for complete or nearly complete vision loss. In ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuronal Ceroid Lipofuscinosis
Neuronal ceroid lipofuscinosis is the general name for a family of at least eight genetically separate neurodegenerative lysosomal storage diseases that result from excessive accumulation of lipopigments (lipofuscin) in the body's tissues. These lipopigments are made up of fats and proteins. Their name comes from the word stem "lipo-", which is a variation on lipid, and from the term "pigment", used because the substances take on a greenish-yellow color when viewed under an ultraviolet light microscope. These lipofuscin materials build up in neuronal cells and many organs, including the liver, spleen, myocardium, and kidneys. Signs and symptoms The classic characterization of the group of neurodegenerative, lysosomal storage disorders called the neuronal ceroid lipofuscinoses (NCLs) is through the progressive, permanent loss of motor and psychological ability with a severe intracellular accumulation of lipofuscins, with the United States and Northern European populations having sli ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Speech Communication
Speech is a human vocal communication using language. Each language uses phonetic combinations of vowel and consonant sounds that form the sound of its words (that is, all English words sound different from all French words, even if they are the same word, e.g., "role" or "hotel"), and using those words in their semantic character as words in the lexicon of a language according to the syntactic constraints that govern lexical words' function in a sentence. In speaking, speakers perform many different intentional speech acts, e.g., informing, declaring, asking, persuading, directing, and can use enunciation, intonation, degrees of loudness, tempo, and other non-representational or paralinguistic aspects of vocalization to convey meaning. In their speech, speakers also unintentionally communicate many aspects of their social position such as sex, age, place of origin (through accent), physical states (alertness and sleepiness, vigor or weakness, health or illness), psychologica ... [...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] |
