Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The macular mutant mouse was clinically and pathologically examined. The hemizygotes began to show white fur color and curly whiskers around postnatal day 3, then seizures and ataxia around day 8, while the normal littermates did not. The hemizygotes also increased weight gradually from birth to day 9, but then showed weight loss and died around day 15 with severe emaciation. These clinical features resembled those in Menkes kinky hair disease. There were no pathological changes in the cerebral cortex in the hemizygotes on day 7. On day 10, two to three clear vacuoles began to appear in a few neurons in the cerebrum. These neurons with vacuoles increased gradually in number and degenerative neurons were also observed by day 14. Ultrastructurally, they corresponded to giant abnormal mitochondria with an electron-lucent matrix and short peripherally located cristae. Other abnormal mitochondria, which were characterized by an electron-dense matrix with tubular or vesicular cristae, were also observed in the cerebral cortical neurons.
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PMID:Clinico-pathological study on macular mutant mouse. 356 5

This study was undertaken to elucidate, using the Golgi method, the neuropathological change in the brain of the macular mutant mouse, whose hemizygote (Ml/y) is considered to be a model of Menkes kinky hair disease (MKHD). The hemizygote mice gradually lost weight after 10 days of age and died with emaciation and seizure around day 15. The normal littermate (+/y) was well developed. In the cerebrum, the arborization of pyramidal neurons in the layer V of the Ml/y was the same as that in the +/y on day 10. However, development of arborization in the Ml/y was delayed in comparison with that in the +/y on days 12 and 14. Purkinje cells with several somal sprouts were observed in the cerebellum in both the Ml/y and +/y on day 7. The somal sprouts in the +/y had regressed gradually by day 12, while they were still in the anterior and middle lobes of the Ml/y on day 14. Additionally, the trunks of Ml/y stem dendrites became thicker and a cactus formation was recognized on the branching portion of the dendrites on day 14. Arborization of these abnormal Purkinje cells was distinctly poor compared with that in the +/y. These results suggest that the growth of the neurons is delayed in the Ml/y and simultaneously their cytoskeletal developments are disturbed, especially in the Purkinje cells. There is a close similarity in many respects to the neuropathological change in MKHD.
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PMID:Golgi study on brain of macular mutant mouse as a model of Menkes kinky hair disease. 357 90

Hydrocephalus is known to produce progressive mental deterioration and other peculiar neurological symptoms and signs, such as gait disturbance, pyramidal and extrapyramidal signs and urinary incontinence. Alteration of energy metabolism in various cerebral regions in association with hydrocephalus, however, has not been fully understood. The quantitative carbon 14 deoxyglucose autoradiographic method was employed in kaolin induced hydrocephalus of rats. The hydrocephalic rats developed marked emaciation with normal physiological parameters. They showed reduced motor activity and muscle tone and sluggish reflexes. The animals remained conscious and displayed no seizure activity. The rates of local cerebral glucose utilization in the cortical areas and the thalamus were significantly lower than those of the control animals. In the limbic system, the hypothalamus, and basal ganglia, the values showed considerable variation, however, the degrees of reduction were relatively mild. The values in the brain stem were either lower or higher than those of the control animals. The lower values were seen in the sensory system and higher values in the nucleus raphe and locus ceruleus. Decrease of the glucose utilization rate in the cerebellum was moderate and uniform in all the cerebellar structures. Reductions of the metabolic rates in the white matter structures were relatively uniform throughout the brain.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Cerebral glucose metabolism studied with (14C)-deoxyglucose method in experimental hydrocephalus]. 662 86

Four cases of avian tuberculosis in two goshawks (Accipiter gentilis gentilis), a lanner falcon (Falco biarmicus sp.) and a kestrel (Falco tinnunculus tinnunculus) are reported. All birds, except for the kestrel, were affected with generalized tuberculosis. Clinically, the lanner falcon and kestrel showed lameness due to tuberculous arthritis of a knee joint. One of the goshawks died suddenly. On post-mortem examination, the bird was found to be emaciated, and there was involvement of one knee joint. The other goshawk showed convulsive seizures for three weeks before she died. Histological examination revealed tuberculous meningitis and encephalitis. The diagnosis was based on the detection of acid-fast organisms in every case and was verified in three cases by cultures of the causative organism. Tuberculosis should be considered in the differential diagnosis of emaciation, lameness, arthritis, skin lesions, convulsions and frounce in raptors.
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PMID:[Tuberculosis in raptorial birds. Clinical cases and differential diagnosis]. 713 64

At a follow-up study of 385 patients with epilepsy beginning under age 15, 22 (5.7%) had died during the first 10 years after the onset of epilepsy and another 11 (2.9%) between 11 and 24 years. Mortality was significantly high in cases with the following clinical features: (1) epilepsy with onset before the first birthday (mortality being 25.5%), (2) symptomatic epilepsy in etiology (17.2%), (3) infantile spasms (40.7%), tonic epilepsy (33.3%) or myoclonic epilepsy (33.3%) as compared with grand mal (5.9%) in seizure type and (4) developmental retardation at the first visit (25.5%). Seizures were not controlled in 31 out of 33 patients at the time of death. The causes of death were status epilepticus or convulsion in 10, pneumonia in 5, severe emaciation in 3, "cerebral palsy" in 5, and drowning, suffocation, traffic accidents or acute lymphocytic leukemia, in one each, and unknown in 6. Most of the patients died at home.
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PMID:Mortality and clinical features in cases of death among epileptic children. 713 11

We report herein the case of a 28-year-old man presenting with hyperglycemic chorea-ballism (HCB) in addition to mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). He was admitted to a local hospital due to weight loss, general fatigue and thirst. The patient had diabetes mellitus, with a blood glucose level of 738 mg/dl and HbA1c of 19.8%. Although insulin therapy improved hyperglycemia, he noticed involuntary movements in the right upper and lower limbs, which subsequently extended to the left side. The patient was thus transferred to our hospital. He displayed short stature (154 cm) and emaciation, and a maternal family history of diabetes mellitus was elicited. He had no history of stroke-like episode, headache, vomiting and seizure. Neurological examination revealed low intelligence (IQ 57), mild sensorineural deafness, and chorea-ballism in the extremities and head without ptosis or eye movement disturbance. Brain computed tomography (CT) demonstrated areas of high density, while T1-weighted magnetic resonance imaging (MRI) revealed extreme hyperintensity and T2-weighted MRI showed hyperintensity in bilateral caudate nuclei, putamina and globi pallidus. HCB was diagnosed. In, CSF, lactate level was increased to 43.9 mg/dl (n, 4-16), pyruvate level was 1.65 mg/dl (n, 0.3-0.9) and total protein concentration was 59 mg/dl. Histological examination of a biopsy sample from the biceps brachii muscle demonstrated ragged-red fibers. An A3243G point mutation in the tRNA(Leu(UUR)) gene was detected, indicating the presence of MELAS. Involuntary movements improved on treatment with haloperidol up to 4.5 mg/day. HCB usually appears in elderly individuals, and cases less than 40-years-old are very rare. The mitochondrial dysfunction in MELAS may accelerate development of HCB.
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PMID:[A case of MELAS presenting juvenile-onset hyperglycemic chorea-ballism]. 1611 32

Three Swainson's Blue Mountain Rainbow Lorikeets (Trichoglossus haematodus moluccanus), ranging from 6 to 8 months of age, presented with lethargy, emaciation, and progressive neurologic signs. The first one died 24 hours after the onset of clinical signs, and the other two were euthanized 10 to 14 days after the onset of progressive neurologic disease. Clinical signs in these lorikeets included head pressing, hemiparesis, seizures, obtunded mentation, weakness, and lethargy. Two of the lorikeets had hepatomegaly, and one had splenomegaly on gross examination. Histopathology revealed disseminated microgranulomas in the liver, spleen, and brain, and lymphohistocytic perivascular encephalitis and cephalic vasculitis. Electron microscopic examination of macrophages in brain lesions revealed spherical to rod-shaped prokaryotic organisms with a trilaminar cell wall. Molecular analysis revealed a novel species of Coxiella. This is believed to be the first report of a Coxiella sp. causing disease in a lorikeet.
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PMID:Fatal coxiellosis in Swainson's Blue Mountain Rainbow Lorikeets (Trichoglossus haematodus moluccanus). 1842 42

Munitions constituents (MCs) including hexahydro-1,3,5-trinitro-1,3,5-triazine (RDX), 2,4,6-trinitrotoluene (TNT), and TNT derivatives are recognized to elicit aberrant neuromuscular responses in many species. The onset of seizures resulting in death was observed in the avian model Northern bobwhite after oral dosing with RDX beginning at 8 mg/kg/day in subacute (14 days) exposures, whereas affective doses of the TNT derivative, 2,6-dinitrotoluene (2,6-DNT), caused gastrointestinal impacts, lethargy, and emaciation in subacute and subchronic (60 days) exposures. To assess and contrast the potential neurotoxicogenomic effects of these MCs, a Northern bobwhite microarray was developed consisting of 4119 complementary DNA (cDNA) features enriched for differentially-expressed brain transcripts from exposures to RDX and 2,6-DNT. RDX affected hundreds of genes in brain tissue, whereas 2,6-DNT affected few (<or= 17), indicating that 2,6-DNT exposure had relatively little impact on the brain in comparison to RDX. Birds exhibiting RDX-induced seizures accumulated over 20x more RDX in brain tissues in comparison to non-seizing birds even within a common dose. In parallel, expression patterns were unrelated among seizing and non-seizing birds exposed to equivalent RDX doses. In birds experiencing seizures, genes related to neuronal electrophysiology and signal transduction were significantly affected. Comparative toxicology revealed strong similarity in acute exposure effects between RDX and the organochlorine insecticide dichlorodiphenyltrichloroethane (DDT) regarding both molecular mechanisms and putative mode of action. In a manner similar to DDT, we hypothesize that RDX elicits seizures by inhibition of neuronal cell repolarization postaction potential leading to heightened neuronal excitability and seizures facilitated by multiple molecular mechanisms.
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PMID:Neurotoxicogenomic investigations to assess mechanisms of action of the munitions constituents RDX and 2,6-DNT in Northern bobwhite (Colinus virginianus). 1941 77

Fifteen 8-month-old fennec foxes imported from Sudan showed fever, mucopurulent ocular discharge, diarrhea, severe emaciation, seizures, and generalized ataxia, and died. Three of the 15 animals were presented for diagnostic investigation. Severe dehydration, brain congestion, and gastric ulcers were observed in all animals. In one animal, the lungs had failed to collapse and were multifocally dark red in appearance. Histopathologically, there were lymphohistiocytic meningoencephalitis with malacia, mild interstitial pneumonia, lymphoid depletion of lymphoid tissues and organs, and intestinal villous atrophy with intralesional coccidia. There were many intracytoplasmic and/or intranuclear inclusion bodies in the epithelial cells of the medullary velum, lungs, liver, kidneys, trachea, pancreas, stomach, gall bladder, urinary bladder, and ureters, and in macrophages of malacia foci and lymphocytes and macrophages of lymphoid organs. Additionally, intestinal coccidia were confirmed to be Isospora species by a fecal test. To our knowledge, this is the first report of canine distemper with intestinal coccidiosis in fennec fox.
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PMID:Canine distemper virus infection in fennec fox (Vulpes zerda). 2029 71

To determine whether infectious diseases might have contributed to the present-day decline of northern fur seals (Callorhinus ursinus), preweaned pups (n=2,735), subadult males (n=98), and adults (n=179) were examined postmortem from 1986 to 2006 on St. Paul Island, Alaska. Gross necropsy findings and histologic lesions were used to determine causes of death. Five general categories of mortality were identified for pups: emaciation (1,454 pups, 53%), trauma (497 pups, 18%), perinatal mortality (516 pups, 19%), infectious diseases (82 pups, 3%), and miscellaneous causes (186 pups, 7%). A condition of unknown etiology characterized by multifocal necrotizing myopathy and cardiomyopathy was found in 92 pups. Thirty-three congenital anomalies were identified in 49 pups, including a rare multicentric ganglioneuroblastoma. General linear models were used to examine change in pup mortality and condition (i.e., pup mass) over time. The prevalence of perinatal mortality appeared to increase during the study and relative to past reports. Trauma and infectious conditions appeared to decrease slightly from 1986 to 2006. Although relatively stable during this investigation, emaciation was greater than that reported for past studies. Emaciated pups weighed less than expected during 1988, 1996, and 2004 and more than expected during 1987, 1989, 1990, and 1994 (P</=0.003). Average annual weights for all other categories of mortality did not change significantly from 1986 to 2006. Fatal conditions for subadult males included hyperthermia, blunt trauma, entanglement, and bite wounds; nonfatal conditions included seizures, orange discoloration of the blubber, neoplasia, and parasitism. Causes of mortality for most adults included bite wounds with cellulitis and secondary infections, pulmonary edema, dystocia, blunt trauma, and neoplasia. We found no evidence to implicate infectious diseases as a cause in the recent decline of northern fur seals.
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PMID:Causes of mortality in northern fur seals (Callorhinus ursinus), St. Paul Island, Pribilof Islands, Alaska, 1986-2006. 2068 38


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