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CAPOS Syndrome
CAPOS syndrome is a rare genetic neurological disorder which is characterized by abnormalities of the feet, eyes and brain which affect their normal function. These symptoms occur episodically when a fever-related infection is present within the body. Signs and symptoms Usually, individuals with this condition have cerebellar ataxia, areflexia, high-arched feet, optic nerve wasting/degeneration, sensorineural deafness. These symptoms have variable onset, but they generally begin episodically after having a fever-causing infection such as the common cold, manifesting mainly as sudden-onset ataxic episodes and encephalopathy. Other triggers include pregnancy and giving birth. Other symptoms that occur during the episodic ataxia includes hypotonia, nystagmus, strabismus, dysarthria, dysphagia, areflexia/hyporeflexia, and temporary deafness. More serious symptoms include loss of consciousness and/or onset of a coma. These symptoms usually improve alongside the illness that caus ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics 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 specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Birth
Birth is the act or process of bearing or bringing forth offspring, also referred to in technical contexts as parturition. In mammals, the process is initiated by hormones which cause the muscular walls of the uterus to contract, expelling the fetus at a developmental stage when it is ready to feed and breathe. In some species the offspring is precocial and can move around almost immediately after birth but in others it is altricial and completely dependent on parenting. In marsupials, the fetus is born at a very immature stage after a short gestation and develops further in its mother's womb pouch. It is not only mammals that give birth. Some reptiles, amphibians, fish and invertebrates carry their developing young inside them. Some of these are ovoviviparous, with the eggs being hatched inside the mother's body, and others are viviparous, with the embryo developing inside her body, as in the case of mammals. Mammals Large mammals, such as primates, cattle, horses, some ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes With Sensorineural Hearing Loss
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a syn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 19
Chromosome 19 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 19 spans more than 58.6 million base pairs, the building material of DNA. It is considered the most gene-rich chromosome containing roughly 1,500 genes, despite accounting for only 2 percent of the human genome. Genes Number of genes The following are some of the gene count estimates of human chromosome 19. Because researchers use different approaches to genome annotation, their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 19. For complete list, see the link in the infobox on the right. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Missense Mutations
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. It is a type of nonsynonymous substitution. Substitution of protein from DNA mutations Missense mutation refers to a change in one amino acid in a protein, arising from a point mutation in a single nucleotide. Missense mutation is a type of nonsynonymous substitution in a DNA sequence. Two other types of nonsynonymous substitution are the nonsense mutations, in which a codon is changed to a premature stop codon that results in truncation of the resulting protein, and the nonstop mutations, in which a stop codon erasement results in a longer, nonfunctional protein. Missense mutations can render the resulting protein nonfunctional, and such mutations are responsible for human diseases such as Epidermolysis bullosa, sickle-cell disease, SOD1 mediated ALS, and a substantial number of cancers. In the most common variant of sickle-cell dis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vision Impairment
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] |
Coma
A coma is a deep state of prolonged unconsciousness in which a person cannot be awakened, fails to respond normally to painful stimuli, light, or sound, lacks a normal wake-sleep cycle and does not initiate voluntary actions. Coma patients exhibit a complete absence of wakefulness and are unable to consciously feel, speak or move. Comas can be derived by natural causes, or can be medically induced. Clinically, a coma can be defined as the inability consistently to follow a one-step command. It can also be defined as a score of ≤ 8 on the Glasgow Coma Scale (GCS) lasting ≥ 6 hours. For a patient to maintain consciousness, the components of ''wakefulness'' and ''awareness'' must be maintained. Wakefulness describes the quantitative degree of consciousness, whereas awareness relates to the qualitative aspects of the functions mediated by the cortex, including cognitive abilities such as attention, sensory perception, explicit memory, language, the execution of tasks, temporal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Loss Of Consciousness
Loss may refer to: Arts, entertainment, and media Music * ''Loss'' (Bass Communion album) (2006) * ''Loss'' (Mull Historical Society album) (2001) *"Loss", a song by God Is an Astronaut from their self-titled album (2008) * Losses "(Lil Tjay song)" (2020) *"Losses", a song by Drake from ''Dark Lane Demo Tapes'' (2020) *"Losses", a song by Polo G from ''Hall of Fame'' (2021) Other uses in arts, entertainment, and media * ''Loss'' (comic), a webcomic strip and internet meme * ''Loss'' (film), a 2008 film by Maris Martinsons * Lord Loss (character), a character from Darren Shan's ''The Demonata'' *"The Loss", a 1990 episode of ''Star Trek: The Next Generation'' Grief *Grief, an emotional response to loss **Animal loss, grief over the loss of an animal Mathematics, science, and technology *Angular misalignment loss, power loss caused by the deviation from optimum angular alignment * Bridging loss, the loss that results when an impedance is connected across a transmission line *Coup ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hyporeflexia
Hyporeflexia is the reduction or absence of normal bodily reflexes (areflexia). It can be detected through the use of a reflex hammer and is the opposite of hyperreflexia. Hyporeflexia is generally associated with a deficit in the lower motor neurons (at the alpha motor neurons from spinal cord to muscle), whereas hyperreflexia is often attributed to lesions in the upper motor neurons (along the long, motor tracts from the brain). The upper motor neurons are thought to inhibit the reflex arc, which is formed by sensory neurons from intrafusal fibers of muscles, lower motor neurons (including alpha and gamma motor fibers) and appurtenant interneurons. Therefore, damage to lower motor neurons will subsequently result in hyporeflexia and/or areflexia. In spinal shock, which is commonly seen in the transection of the spinal cord (Spinal cord injury), areflexia can transiently occur below the level of the lesion and can later become hyperreflexic. Cases of severe muscle atrophy or de ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysphagia
Dysphagia is difficulty in swallowing. Although classified under "symptoms and signs" in ICD-10, in some contexts it is classified as a disease#Terminology, condition in its own right. It may be a sensation that suggests difficulty in the passage of solids or liquids from the mouth to the stomach, a lack of Pharynx, pharyngeal sensation or various other inadequacies of the swallowing mechanism. Dysphagia is distinguished from other symptoms including odynophagia, which is defined as painful swallowing, and Globus Pharyngis, globus, which is the sensation of a lump in the throat. A person can have dysphagia without odynophagia (dysfunction without pain), odynophagia without dysphagia (pain without dysfunction) or both together. A psychogenic disease, psychogenic dysphagia is known as phagophobia. Classification Dysphagia is classified into the following major types: # Oropharyngeal dysphagia # Esophageal dysphagia, Esophageal and obstructive dysphagia # Neuromuscular symptom comp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysarthria
Dysarthria is a speech sound disorder resulting from neurological injury of the motor component of the motor–speech system and is characterized by poor articulation of phonemes. In other words, it is a condition in which problems effectively occur with the muscles that help produce speech, often making it very difficult to pronounce words. It is unrelated to problems with understanding language (that is, dysphasia or aphasia), although a person can have both. Any of the speech subsystems (respiration, phonation, resonance, prosody, and articulation) can be affected, leading to impairments in intelligibility, audibility, naturalness, and efficiency of vocal communication. Dysarthria that has progressed to a total loss of speech is referred to as anarthria. The term ''dysarthria'' is from New Latin, ''dys-'' "dysfunctional, impaired" and ''arthr-'' "joint, vocal articulation". Neurological injury due to damage in the central or peripheral nervous system may result in weakness ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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