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Paroxysmal Tonic Upgaze
Paroxysmal tonic upgaze (PTU) of childhood is a rare and distinctive neuro-ophthalmological syndrome characterized by episodes of sustained upward deviation of the eyes. Symptoms normally appear in babies under one year of age and are characterized by an upward stare or gaze, with the eyes rolled back, while the chin is typically held low. Presentation Babies suffering from PTU may exhibit normal or slightly jerky side-to-side eye movement, nausea, irritability, frequent sleep, developmental and language delays, vertigo and loss of muscle tone. The condition is generally regarded as having a benign outcome, in the sense that it improves, rather than worsens over time. The average age of recovery is at about 2.5 years. Genetics This condition has been associated with mutations in the following genes: CACNA1A, GRID2 and SEPSECS O-phosphoseryl-tRNA(Sec) selenium transferase is an enzyme that in humans is encoded by the ''SEPSECS'' gene In biology, the word gene (from , ; ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuro-ophthalmology
Neuro-ophthalmology is an academically-oriented subspecialty that merges the fields of neurology and ophthalmology, often dealing with complex systemic diseases that have manifestations in the visual system. Neuro-ophthalmologists initially complete a residency in either neurology or ophthalmology, then do a Fellowship (medicine), fellowship in the complementary field. Since diagnostic studies can be normal in patients with significant neuro-ophthalmic disease, a detailed medical history and physical exam is essential, and neuro-ophthalmologists often spend a significant amount of time with their patients. Common pathology referred to a neuro-ophthalmologist includes afferent visual system disorders (e.g. optic neuritis, optic neuropathy, papilledema, brain tumors or strokes) and efferent visual system disorders (e.g. anisocoria, diplopia, ophthalmoplegia, ptosis (eyelid), ptosis, nystagmus, blepharospasm, seizures of the eye or eye muscles, and hemifacial spasm). The largest intern ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nausea
Nausea is a diffuse sensation of unease and discomfort, sometimes perceived as an urge to vomit. While not painful, it can be a debilitating symptom if prolonged and has been described as placing discomfort on the chest, abdomen, or back of the throat. Over 30 definitions of nausea were proposed in a 2011 book on the topic. Nausea is a non-specific symptom, which means that it has many possible causes. Some common causes of nausea are gastroenteritis and other gastrointestinal disorders, food poisoning, motion sickness, dizziness, migraine, fainting, low blood sugar, anxiety, and lack of sleep. Nausea is a side effect of many medications including chemotherapy, or morning sickness in early pregnancy. Nausea may also be caused by disgust and depression. Medications taken to prevent and treat nausea and vomiting are called antiemetics. The most commonly prescribed antiemetics in the US are promethazine, metoclopramide, and the newer ondansetron. The word nausea is from Lat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Language Delay
A language delay is a language disorder in which a child fails to develop language abilities at the usual age-appropriate period in their developmental timetable. It particularly affects deaf children who are denied sign language. It is most commonly seen in children ages two to seven years-old and can continue into adulthood. The reported prevalence of language delay ranges from 2.3 to 19 percent. Language is a uniquely human form of communication that entails the use of words in a standard and structured way. Language is distinct from communication. Communication is a two-stage process. The first stage is the process of encoding the message into a set of words (or signs in the case of Sign Languages) and sentence structures that convey the required meaning, i.e. into language. In the second stage, language is translated into motor commands that control the articulators (hands, face, body, lungs, vocal cords, mouth, tongue, teeth, etc.), thereby creating speech. Language delays a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vertigo
Vertigo is a condition where a person has the sensation of movement or of surrounding objects moving when they are not. Often it feels like a spinning or swaying movement. This may be associated with nausea, vomiting, sweating, or difficulties walking. It is typically worse when the head is moved. Vertigo is the most common type of dizziness. The most common disorders that result in vertigo are benign paroxysmal positional vertigo (BPPV), Ménière's disease, and labyrinthitis. Less common causes include stroke, brain tumors, brain injury, multiple sclerosis, migraines, trauma, and uneven pressures between the middle ears. Physiologic vertigo may occur following being exposed to motion for a prolonged period such as when on a ship or simply following spinning with the eyes closed. Other causes may include toxin exposures such as to carbon monoxide, alcohol, or aspirin. Vertigo typically indicates a problem in a part of the vestibular system. Other causes of dizziness incl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muscle Tone
In physiology, medicine, and anatomy, muscle tone (residual muscle tension or tonus) is the continuous and passive partial muscle contraction, contraction of the muscles, or the muscle's resistance to passive stretch during resting state.O’Sullivan, S. B. (2007). Examination of motor function: Motor control and motor learning. In S. B. O’Sullivan, & T. J. Schmitz (Eds), Physical rehabilitation (5th ed.) (pp. 233-234). Philadelphia, Pennsylvania: F. A. Davis Company. It helps to maintain neutral spine, posture and declines during REM sleep. Purpose If a sudden muscle pull, pull or stretch occurs, the body responds by automatically increasing the muscle's tension, a reflex which helps guard against danger as well as helping maintain balance disorder, balance. Such near-continuous innervation can be thought of as a "default" or "steady state" condition for muscles. Both the Extension (kinesiology), extensor and flexion, flexor muscles are involved in the maintenance of a consta ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CACNA1A
Cav2.1, also called the P/ Q voltage-dependent calcium channel, is a calcium channel found mainly in the brain. Specifically, it is found on the presynaptic terminals of neurons in the brain and cerebellum. Cav2.1 plays an important role in controlling the release of neurotransmitters between neurons. It is composed of multiple subunits, including alpha-1, beta, alpha-2/delta, and gamma subunits. The alpha-1 subunit is the pore-forming subunit, meaning that the calcium ions flow through it. Different kinds of calcium channels have different isoforms (versions) of the alpha-1 subunit. Cav2.1 has the alpha-1A subunit, which is encoded by the ''CACNA1A'' gene. Mutations in ''CACNA1A'' have been associated with various neurologic disorders, including familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6. Function "Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calci ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GRID2
Glutamate receptor, ionotropic, delta 2, also known as GluD2, GluRδ2, or δ2, is a protein that in humans is encoded by the ''GRID2'' gene. This protein together with GRID1, GluD1 belongs to the delta receptor subtype of ionotropic glutamate receptors. They possess 14–24% DNA sequence, sequence homology (biology), homology with AMPA receptor, AMPA, Kainate receptor, kainate, and NMDA receptor, NMDA subunits, but, despite their name, do not actually bind glutamate or various other glutamate agonists. delta iGluRs have long been considered orphan receptors as their endogenous ligand was unknown. They are now believed to bind glycine and D-serine but these do not result in channel opening. Function GluD2-containing receptors are selectively/predominantly expressed in Purkinje cells in the cerebellum where they play a key role in synaptogenesis, synaptic plasticity, and motor coordination. GluD2 induces synaptogenesis through interaction of its N-terminal domain with Cbln1, wh ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SEPSECS
O-phosphoseryl-tRNA(Sec) selenium transferase is an enzyme that in humans is encoded by the ''SEPSECS'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba .... References Further reading * * * {{gene-4-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
