Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

1 The effect of altering the ionic balance of the cerebrospinal fluid (CSF) on cloacal temperature of unanesthetized pigeons kept at room temperature (20-25 degrees C) was examined by injection or infusion of solutions of different ionic composition into a cannulated lateral cerebral ventricle. 2 An increase in the concentration of calcium ions caused a fall in temperature and behavioural sedation. The effects were the same whether the calcium was present as calcium chloride or as the calcium disodium salt of ethylenediamine tetra-acetic acid (CaNa2EDTA). 3 When the concentration of sodium ions in the CSF perfusate was increased by addition of NaCl or that of calcium ions was decreased by addition of Na2EDTA a rise in temperature was often produced but this was not consistent. NaCl sometimes had either no effect or lowered the temperature. Na2EDTA while producing a rise when first injected failed to do so when repeated a few hours, 24 h and often 72 h later. Prolonged infusion of either agent caused intense behavioural excitement leading to death. 4 Potassium ions, like sodium ions, caused a rise in temperature but only when infused continuously. Behavioural excitement was only rarely observed. 5 Magnesium produced a fall in temperature. The concentration required was much higher than that of calcium but the hypothermia was more prolonged suggesting a slower elimination of the magnesium ions from the CSF. Magnesium ions caused tremors, nystagmus and ataxia as opposed to sedation caused by calcium. 6 All these were central effects as they were not obtained when the substances were injected intravenously. 7 Since changes in body temperature of the pigeon produced by injection of calcium or sodium ions into the CSF were similar to those seen in various species of mammal, it is concluded that the relative concentration of these ions within the brain plays an important role in establishing the temperature setpoint in both birds and mammals.
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PMID:Sodium and calcium ions in the control of temperature set-point in the pigeon. 81 41

The authors observed 6 cases of brain pseudotumours in children aged from 3 to 15 years. All patients had been referred with the diagnosis of brain tumour, with headaches, eye fundus changes fundus changes. Some children had nystagmus, squint, vomiting and dizziness. One child had pharyngitis, two had sinusitis. Contrast brain examinations gave normal results. Diet with salt and fluid restriction and oedema-reducing drugs (glycerol, mannitol, decadron) were used. In all patients the neurological and ophthalmological signs regressed within 3 to 12 weeks.
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PMID:[Pseudotumor cerebri in children]. 145 58

Two siblings with Leber's congenital amaurosis had bilateral macular colobomas, nystagmus, extinguished ERGs, and degenerative salt and pepper like changes in the fundus. They had non-recordable or non-meaningful visually evoked cortical potentials in response to both flash and pattern stimuli. The ophthalmic conditions were thought to be inherited as an autosomal recessive trait.
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PMID:Bilateral macular colobomas in Leber's congenital amaurosis. 258 99

The authors describe a family with five daughters, of whom four are affected with Leber's congenital amaurosis and high hyperopia ranging between +5.5 and +9 diopters. In addition, the second daughter is a little short for her age, and shows a slight dyscrania with prominent frontal and occipital bones, hypoplasia of the nasal bone, and deep and narrow orbits leading to marked enophthalmos. The symptoms are typical of Leber's amaurosis. All children have nystagmus, night blindness, weak or absent pupillary reflexes. Visual fields are constricted or not measurable. The electroretinogram is extinguished, and hyperopia of the axial type was confirmed by ultrasound. Fundus findings are variable with small, pale and somewhat protruding papillae (pseudo-papillitis), narrow retinal vessels, diffuse fundus pigmentation of pepper-and-salt type and unusual yellow coloration of the macular region (diffuse atrophy). The inheritance of Leber's congenital amaurosis is autosomal recessive. The combined occurrence of amaurosis and hyperopia in four children in one family, while the fifth is unaffected and has no refractive error, furnishes a further evidence for the existence of a particular amaurosis-hyperopia subtype of Leber's disease.
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PMID:Leber's congenital amaurosis associated with high hyperopia in four sisters. 266 98

Salt poisoning/water deprivation has been described under various circumstances in adult cattle. The signs and lesions in cattle are somewhat different from those in swine, which are frequently affected. This report describes several cases of salt poisoning in veal calves. The calves were fed milk replacer and were housed without access to water. Presenting signs were mostly referrable to dysfunction of the central nervous system and included hyperesthesia, opisthotonus, nystagmus, muscle twitching and intermittent convulsions. Although the serum sodium concentration in some of these calves was over 200 mEq/1, no remarkable brain lesions were noted at necropsy. The salt content of the milk replacer was 10 times the level recommended by the National Research Council. This salt may have come from the whey included in the formula. The syndrome produced in the veal calves was similar to that seen in infant children given only a nursing formula containing too much salt, and limited water.
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PMID:A case of presumptive salt poisoning (water deprivation) in veal calves. 708 63

This report present an infant with nystagmus, strabismus, salt and pepper and scars in funduscopy, calcification in Brain CT scan and high titer of Anti Toxoplasmosis antibody. A 10 month old infant that referred with nystagmus, strabismus after fever which appeared five months ago. In funduscopy of both eyes, salt and pepper and scars and in Brain CT scan multiple calcification were seen. The diagnosis of congenital Toxoplasmosis was established by positive serum Anti toxoplasma Ab (IgG) (> 400). Toxoplasmosis may present with only nystagmus and strabismus and physicians should consider this infection in the differential diagnosis of a abnormal eye movement.
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PMID:A 10 month old infant with nystagmus and strabismus. 1881 86

Homozygous or compound heterozygous mutations in the GJC2 gene, encoding the gap junction protein connexin47 (Cx47), cause the autosomal recessive hypomyelinating Pelizaeus-Merzbacher-like disease (PMLD1, MIM# 608804). Although clinical and neuroradiological findings resemble those of the classic Pelizaeus-Merzbacher disease, PMLD patients usually show a greater level of cognitive and motor functions. Unpredictably a homozygous missense GJC2 mutation (p.Glu260Lys) was found in a patient presenting with a very severe clinical picture characterised by congenital nystagmus and severe neurological impairment. Also magnetic resonance imaging was unusually severe, showing an abnormal supra- and infratentorial white matter involvement extending to the spinal cord. The novel p.Glu260Lys (c.778G>A) mutation, occurring in a highly conserved motif (SRPTEK) of the Cx47 extracellular loop-2 domain, was predicted, by modelling analysis, to break a 'salt bridge network', crucial for a proper connexin-connexin interaction to form a connexon, thus hampering the correct formation of the connexon pore. The same structural analysis, extended to the previously reported missense mutations, predicted that most changes were expected to have less severe impact on protein functions, correlating with the mild PMLD1 form of the patients. Our study expands the spectrum of PMLD1 and provides evidence that the extremely severe clinical and neuroradiological PMLD1 form of our patient likely correlates with the predicted impairment of gap junction channel assembly resulting from the detrimental effect of the new p.Glu260Lys mutant allele on Cx47 protein.
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PMID:Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form. 2266 16

Ocular albinism is an X-linked inherited disease characterized by hypopigmentation of the iris and nystagmus. To identify a new disease-causing mutation of ocular albinism, we collected a Han Chinese pedigree with 7 male congenital nystagmus patients over 3 generations. Slit-lamp photography and optical coherence tomography were performed for the proband. Genomic DNA was extracted from a whole blood sample from the proband using the high-salt method. Polymerase chain reaction (PCR) sequencing was carried out for GPR143 and FRMD7 genes. The three-dimensional structures of the wild-type and mutant GPR143 proteins were determined using SWISS-MODEL. The transmission of the disease in the pedigree clearly followed an X-linked pattern. The proband had significant iris and fundus hypopigmentation. Optical coherence tomography showed severe foveal hypoplasias in both eyes of the proband. A novel splicing site (G/C) mutation was found on the boundary of the 6th intron and the 7th exon of the GPR143 gene, resulting in a 9-amino-acid deletion (codons 257-265) in the 6th transmembrane domain of the GPR143 protein. In conclusion, a novel splicing site mutation of the GPR143 gene was found in a Han Chinese congenital ocular albinism pedigree.
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PMID:A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree. 2430 36

Dizziness is a common yet imprecise symptom. It was traditionally divided into four categories based on the patient's history: vertigo, presyncope, disequilibrium, and light-headedness. However, the distinction between these symptoms is of limited clinical usefulness. Patients have difficulty describing the quality of their symptoms but can more consistently identify the timing and triggers. Episodic vertigo triggered by head motion may be due to benign paroxysmal positional vertigo. Vertigo with unilateral hearing loss suggests Meniere disease. Episodic vertigo not associated with any trigger may be a symptom of vestibular neuritis. Evaluation focuses on determining whether the etiology is peripheral or central. Peripheral etiologies are usually benign. Central etiologies often require urgent treatment. The HINTS (head-impulse, nystagmus, test of skew) examination can help distinguish peripheral from central etiologies. The physical examination includes orthostatic blood pressure measurement, a full cardiac and neurologic examination, assessment for nystagmus, and the Dix-Hallpike maneuver. Laboratory testing and imaging are not required and are usually not helpful. Benign paroxysmal positional vertigo can be treated with a canalith repositioning procedure (e.g., Epley maneuver). Treatment of Meniere disease includes salt restriction and diuretics. Symptoms of vestibular neuritis are relieved with vestibular suppressant medications and vestibular rehabilitation.
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PMID:Dizziness: Approach to Evaluation and Management. 3021 44

Gitelman syndrome (GS) is a rare salt-losing tubulopathy caused by an inactivating mutation in the SLC12A3 gene, encoding the thiazide-sensitive sodium chloride cotransporter (NCC). Patients with GS frequently complain of vertigo, usually attributed to hypovolemia. Because NCC is also located in the endolymphatic sac, we hypothesized that patients with GS might have vestibular dysfunction. Between April 2013 and September 2016, 20 (22%) out of 90 patients followed at the reference center complained of vertigo in the absence of orthostatic hypotension. Sixteen of them were referred to an otology department for investigation of vestibular function. The vertigo was of short duration and triggered in half of them by head rotation. Seven patients (44%) had a vestibular syndrome. Vestibular syndrome was defined: (1) clinically, as nystagmus triggered by the head shaking test (n = 5); and/or (2) paraclinically, as an abnormal video head impulse test (n = 0), abnormal kinetic test (n = 4) and/or abnormal bithermal caloric test (n = 3). Five patients had associated auditory signs (tinnitus, aural fullness or hearing loss). In conclusion, we found a high frequency of vestibular disorder in GS patients suffering from vertigo, suggesting a role of NCC in the inner ear. Referent physicians of these patients should be aware of this extrarenal manifestation that requires specific investigations and treatment.
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PMID:Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study. 3323 51


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