Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sclerosis of the mastoid portion of the temporal bone is often seen on radiographs of patients who have or have had chronic otitis media. Occasionally lesions are seen that cause sclerosis of the entire temporal bone. The otolaryngologist must be alert to the fact that these findings may signify important pathology beyond that of chronic otitis media and indeed may be indicative of life threatening problems in adjacent or distant areas. In this paper the differential diagnoses of sclerotic lesions of the temporal bone will be discussed. These include fibrous dysplasia, osteopetrosis, meningioma, ossifying fibroma and metastatic lesions to the temporal bone. Three representative cases with sclerotic temporal bones are presented. The first is a patient with a conductive hearing loss secondary to stenosis of the external auditory canal. He was found to have a fibrous dysplasia of the temporal bone. The second case is an elderly male with a draining ear and a facial nerve paresis. He was found to have adenocarcinoma of the prostate gland metastatic to the temporal bone. The third case is that of a woman with a meningioma who demonstrated a sclerotic temporal bone on routine radiographs of the skull.
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PMID:Sclerosing lesions of the temporal bone. 713 11

Report of a case with dislocated fracture of the clavicle and dysplasia of the first rib with consecutive armplexus paresis and thrombosis of the axillar and brachial vein. In such cases operative treatment is advised.
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PMID:[Dislocated clavicle fracture with a costoclavicular compression syndrome]. 742 1

Aneurysms of the extracranial internal carotid artery are rare but can be responsible for severe complications such as rupture, thrombosis, or embolism. Between 1961 and 1985 we operated on 38 aneurysms of the extracranial internal carotid artery in 35 patients, 22 males and 13 females, whose ages ranged from 6 to 73 years. The underlying causes of aneurysm included atherosclerosis (12 cases), fibromuscular dysplasia (eight cases), a congenital defect (five cases), infection (one case), and trauma (six cases); in six cases aneurysm was secondary to spontaneous dissection. Signs of cerebral ischemia were present in 26 (74%) patients and a cervical mass was found in six. The aneurysm was proximal (i.e., below the angle of the mandible) in 16 patients and distal (i.e., above the angle of the mandible) in 22. After resection of the aneurysm, arterial continuity was restored in 37 patients by resection and grafting (12 cases), resection and anastomosis (11 cases), or arteriorrhaphy (14 cases). One death occurred 13 days after operation due to myocardial infarction. Two patients experienced a reversible neurologic event. Transient paresis of cranial nerves was observed in eight patients. During a follow-up period that ranged from 6 to 30 years, four patients were lost to follow-up and 25 patients remained asymptomatic. Three patients had asymptomatic thrombosis of the carotid artery detected at follow-up investigations. The potential risks of cerebral ischemia and rupture and the satisfactory long-term results achieved with surgery are strong arguments in favor of surgical treatment for aneurysms of the extracranial internal carotid artery.
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PMID:Surgical treatment of extracranial internal carotid artery aneurysm. 781 77

A 37-year-old man with both Mondini dysplasia and normal hearing is reported. The patient visited our clinic with a complaint of unsteadiness. Pure-tone audiometry showed a normal hearing level in both ears. Polytomography and computed tomography (CT) revealed enlargement of the vestibules and lateral semicircular canals in both ears but a normal shape of the cochlea and other semicircular canals. The caloric test indicated severe canal paresis (CP) in the left ear and moderate CP in the right ear, whereas the active head rotation test demonstrated that head-eye coordination was preserved at frequencies of 0.33 and 0.67 Hz but slightly deteriorated at 1.0 Hz. The patient's unsteadiness seemed to be attributable to a hypofunction of the bilateral semicircular canals, which may be due to insidious, repeated cerebrospinal fluid otorrhea caused by judo wrestling. Although Mondini dysplasia with normal hearing has been believed to be rare, phylogenetic consideration suggests that more such patients exist than has been assumed.
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PMID:Bilateral Mondini dysplasia with normal hearing. 832 46

A seven-month-old, female domestic shorthair cat was presented to the Veterinary Teaching Hospital, University of Zurich, with abnormal facial features, retarded growth and progressive hindlimb paresis. On physical examination the cat had a flat, broad face with hypertelorism, frontal bossing, small ears and thickened upper and lower eyelids. The corneas of both eyes were clear and the pupils were dilated. The skin was generally thickened, most prominently on the dorsal aspect of the neck. Radiography of the entire skeleton revealed a severely deformed spinal column, bilateral hip luxation with hip dysplasia, an abnormally shaped skull and generalised decreased bone opacity. The clinical features and radiographic changes were suggestive of mucopolysaccharidosis. The toluidine blue spot test on a urine sample, however, was negative for glycosaminoglycans. Further biochemical investigations revealed a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase, EC 2.7.8.17) in peripheral leukocytes and an elevation of many lysosomal enzymes in the serum of the cat which is diagnostic for mucolipidosis type II. Histology and electron microscopy of different tissues are briefly summarised. The findings of this cat, the first reported case of mucolipidosis type II are compared with other similar storage diseases described in the cat.
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PMID:Mucolipidosis type II in a domestic shorthair cat. 888 4

The atypical clinical course of a young male with encephalopathy due to right hemispheric cortical dysplasia (pachygiria) is described. From the first months of life the course of the disease was a static encephalopathy with left hemiparesis, epilepsy and mild mental retardation. When he was 14 years old a subacute pseudobulbar palsy, dystonia and spread of the paresis to the right side occurred. Epileptic seizures, paroxysmal EEG abnormalities and drug ingestion were excluded. Neuropsychological studies showed a low level of cognitive functions, probably related to the malformative encephalopathy and expressive language deficit due to the pseudobulbar paresis. We speculate that this case could be an atypical case of delayed onset dyskiesia.
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PMID:[Late onset of pseudobulbar paralysis and dystonia in a case of hemispheric cortical dysplasia]. 924 18

N-Methylolacrylamide is a cross-linking agent used in adhesives, binders for paper, crease-resistant textiles, resins, latex film, and sizing agents. Toxicology and carcinogenesis studies were conducted by administering N-methylolacrylamide (98% pure) in water by gavage to groups of F344/N rats and B6C3F1 mice of each sex for 16 days, 13 weeks, or 2 years. In vitro genetic toxicology studies were conducted in Salmonella typhimurium and Chinese hamster ovary (CHO) cells; an in vivo bone marrow micronucleus test was performed with B6C3F1 mice. Neurobehavioral assays were performed during the 13-week studies. Sixteen-Day Studies: The doses of N-methylolacrylamide used ranged from 25 to 400 mg/kg. All rats that received 400 mg/kg died within 4 days, and 3/5 male rats that received 200 mg/kg also died before the end of the studies. Compound-related clinical signs seen with 200 mg/kg included ataxia, muscle tremors, and hyperirritability. Ataxia after dosing was observed from day 7 to the end of the studies for rats that received 100 mg/kg. The final mean body weight of male rats that received 100 or 200 mg/kg was 10% or 27% lower than that of the vehicle controls. The final mean body weight of female rats that received 200 mg/kg was 20% lower than that of the vehicle controls. Compound-related lesions in rats included hyperplasia of the bronchiolar and tracheal epithelium, dysplasia of the nasal and tracheal epithelium, centrilobular hepatocellular necrosis, lymphoid depletion of the spleen, and myelin degeneration of the lumbar ventral spinal nerve. All 5 male and 4/5 female mice that received 400 mg/kg N-methylolacrylamide died on the second day of the 16-day studies. The surviving female mouse in the 400 mg/kg group and the male and female mice in the 200 mg/kg groups were ataxic after they were dosed, starting on day 2. Weight changes were inconsistent among dose groups. Bronchial epithelial hyperplasia (mild) appeared to be dose related in males and females. Sinusoidal congestion of the liver and vacuolar degeneration of myocardial fibers were seen in males and females given 400 mg/kg. Thirteen-Week Studies: The doses of N-methylolacrylamide used ranged from 12.5 to 200 mg/kg. All rats that received 100 or 200 mg/kg died before the end of the studies. Rats that received 100 or 200 mg/kg had hind limb ataxia, which progressed to hind limb paralysis. Rats that received 50 mg/kg had hind limb ataxia beginning at week 8, which progressed to hind limb paresis by week 11. The final mean body weight of rats that received 25 or 50 mg/kg was 8% or 16% lower than that of the vehicle controls for males and 6% or 10% lower for females. In neurobehavioral assessments, decreased forelimb and hind limb grip strength was seen at doses as low as 25 mg/kg for female rats and at doses as low as 12.5 mg/kg for male rats. A decreased startle response was seen for females at doses as low as 25 mg/kg. The landing foot spread was significantly increased for male and female rats that received 50 mg/kg. Axon filament and myelin sheath degeneration of the brain stem, spinal cord, and/or peripheral nerves was seen in rats at increased incidences at 25 mg/kg and higher doses. Inflammation and/or hemorrhage and edema of the urinary bladder mucosa were seen with doses of 25 mg/kg or more in a few rats that had distended bladders at gross examination. All mice that received 200 mg/kg N-methylolacrylamide died before the end of the studies. Final mean body weights of dosed and vehicle control mice were similar. A decreased relative testis weight was observed for mice that received 12.5 mg/kg or more. The relative kidney weights for male mice receiving 50 or 100 mg/kg were greater than that for vehicle controls. Neurobehavioral studies indicated decreased forelimb grip strength in male and female mice at doses as low as 25 mg/kg. An exaggerated startle response was seen for female mice given 100 mg/kg. A reduction in rotarod performance was seen for male and female mice receiving 100 mg/kg and for male mice receiving 25 mg/kg. Hepatocellular necrosis anmale mice receiving 25 mg/kg. Hepatocellular necrosis and thymic lymphocytic necrosis were compound-related effects in mice given 200 mg/kg N-methylolacrylamide. Hemorrhage, necrosis, and mineralization of the zona reticularis of the adrenal gland were present in 3/10 female mice given 200 mg/kg, and cytoplasmic vacuolization of the adrenal cortex was seen with lower doses. Based on the results of these short-term studies, 2-year studies were conducted by administering 0, 6, or 12 mg/kg N-methylolacrylamide in water by gavage, 5 days per week for 103 weeks, to groups of 50 rats of each sex. Groups of 50 mice of each sex were administered 0, 25, or 50 mg/kg on the same schedule. Body Weight and Survival in the Two-Year Studies: Mean body weights of dosed rats were within 6% of those of vehicle controls throughout most of the studies. Mean body weights of dosed mice were as much as 25% greater than those of vehicle controls for females and as much as 13% greater for males. The survival of female rats given 25 mg/kg per day was lower than that of vehicle controls after day 550, but survival of female rats given 50 mg/kg per day was not different from that of vehicle controls (vehicle control, 35/50; low dose, 22/50; high dose, 33/50). No differences in survival were observed between any other groups of rats or mice of either sex (male rats: 28/50; 22/50; 27/50; male mice: 30/50; 20/50; 21/50; female mice: 41/50; 35/50; 33/50). Nonneoplastic and Neoplastic Effects in the Two-Year Studies: In rats, no biologically important nonneoplastic or neoplastic lesions were attributed to administration of N-methylolacrylamide. Higher doses might have increased the sensitivity of the studies to determine the presence or absence of a carcinogenic response. In mice, the incidences of adenomas of the Harderian gland were increased in males given either dose of N-methylolacrylamide and in females given the top dose (male: vehicle control, 1/48; low dose, 14/49; high dose, 29/50; female: 5/47; 8/45; 20/48). The incidences of carcinomas of the Harderian gland were not significantly increased by N-methylolacrylamide administration (male: 1/48; 0/49; 2/50; female: 0/47; 3/45; 2/48). The incidences of hepatocellular adenomas were increased in male and female mice given 50 mg/kg N-methylolacrylamide (male: 8/50; 4/50; 19/50; female: 3/50; 4/50; 17/49). The incidences of hepatocellular carcinomas were also marginally increased in dosed male mice (male: 6/50; 13/50; 12/50; female: 3/50; 3/50; 2/49). Hepatocellular adenomas and carcinomas (combined) occurred with positive trends, and the incidences in male and female mice receiving 50 mg/kg were increased compared with those in the vehicle controls (male: 12/50; 17/50; 26/50; female: 6/50; 7/50; 17/49). Chronic inflammation and alveolar epithelial hyperplasia of the lung were observed at increased incidences in mice given N-methylolacrylamide. Sentinel mice were seropositive for Sendai virus at 18 months. The incidences of alveolar/bronchiolar adenomas (3/49; 6/50; 11/50) and carcinomas (2/49; 4/50; 10/50) were increased in male mice given 50 mg/kg. Alveolar/bronchiolar adenomas or carcinomas (combined) occurred with a positive trend in male mice (5/49; 10/50; 18/50). The incidence of alveolar/bronchiolar adenomas or carcinomas (combined) was increased in female mice given the top dose of 50 mg/kg (6/50; 8/50; 13/49). Ovarian atrophy was observed at increased incidences in female mice receiving N-methylolacrylamide (3/50; 39/45; 38/47). The incidences of benign granulosa cell tumors were also increased in the dosed groups (0/50; 5/45; 5/47). The incidence of adenomas of the pars distalis in high dose female mice was significantly lower than that in vehicle controls (13/49; 5/14; 4/43). Genetic Toxicology: N-Methylolacrylamide was not mutagenic in S. typhimurium strains TA97, TA98, TA100, or TA1535 when tested with or without exogenous metabolic activation. N-Methylolacrylamide induced both sister chromatid exchanges (SCEs) and chromosomal aberrations in CHO cells with and without metabolic activation. No increase in micronucleated polychromatic erythrocytes (PCEs) was observed in the bone marrow of B6C3F1 mice after intraperitoneal injection of N-methylolacrylamide. Conclusions: Under the conditions of these 2-year studies, there was no evidence of carcinogenic activity of N-methylolacrylamide for male or female F344/N rats receiving doses of 6 or 12 mg/kg per day by aqueous gavage. There was clear evidence of carcinogenic activity of N-methylolacrylamide for male B6C3F1 mice, based on increased incidences of neoplasms of the Harderian gland, liver, and lung. There was clear evidence of carcinogenic activity of N-methylolacrylamide for female B6C3F1 mice, based on increased incidences of neoplasms of the Harderian gland, liver, lung, and ovary. In rats, because no biologically important toxic effects were attributed to N-methylolacrylamide administration, somewhat higher doses could have been used to increase the sensitivity of these studies for determining the presence or absence of a carcinogenic response. In female mice, ovarian atrophy was compound related. Synonyms: N-(hydroxymethyl)acrylamide; N-(hydroxymethyl)-2-propenamide; N-methanolacrylamide; monomethylolacrylamide
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PMID:NTP Toxicology and Carcinogenesis Studies of N-Methylolacrylamide (CAS No. 924-42-5) in F344/N Rats and B6C3F1 Mice (Gavage Studies). 1270 32

Computed tomography (CT) was used to examine 200 patients (400 temporal bones) aged 3 to 74 years who had no signs of facial nerve lesion and 28 patients who had clinical manifestations of peripheral paresis of the facial nerve of varying genesis. Multipositional CT of the temporal bone is the most informative mode of visualization of the fallopian canal which is embodied on tomographic scans in 100% of cases irrespective of the age of a patient. CT data indicate that the formation of the facial nerve canal brings to completion by the age of 6 years. The following causes of n. facialis paresis were identified: facial neuroma; sarcoma of the temporal bone sarcoma; dehiscence of the canal wall in otitis media acuta; destruction of the tympanic wall of the canal in otitis nedia chronica, fractures of the temporal bone, anomalies of the fallopian canal in temporal bone malformations; stenosis of the canal in fibrous dysplasia. The detected alterations of the n. facialis canal permits further policy of management of a patient to be defined.
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PMID:[Potentialities of temporal bone computed tomography in the study of the facial nerve and in the diagnosis of peripheral pareses of thr 7th pair of cranial nerves]. 1292 Aug 78

Computed tomography (CT) has examined 200 patients (400 temporal bones) at the age of 0-74 with unaffected facial nerve and 28 patients with symptoms of peripheral paresis or paralysis of the facial nerve of different genesis. Polyposition CT of the temporal bone is an intravital noninvasive method of the Fallopius' canal visualization. The canal is visualized on the tomograms in 100% cases irrespective of the patients' age. The following causes of n. facialis paresis were revealed: neurinoma of the facial nerve, sarcoma of the temporal bone, destruction of the tympanic canal wall in chronic otitis media, fractures of the temporal bone, malformations of the Fallopius' canal in malformations of the temporal bone, stenosis of the canal in fibrous dysplasia. The above alterations of n. facialis canal determine further therapeutic policy.
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PMID:[Oval window canal and CT-diagnosis of peripheral pareses of the facial nerve]. 1460 62

In this study, a brother and sister of German origin are described with a possible diagnosis of van Buchem disease, a rare autosomal recessive sclerosing bone dysplasia characterized by a generalized hyperostosis of the skeleton mainly affecting the cranial bones. Clinically, patients suffer from cranial nerve entrapment potentially resulting in facial paresis, hearing disturbances, and visual loss. The radiological picture of van Buchem disease closely resembles sclerosteosis, although in the latter patients, syndactyly, tall stature, and raised intracranial pressure are frequently observed, allowing a differential diagnosis with van Buchem disease. Previous molecular studies demonstrated homozygous loss-of-function mutations in the SOST gene in sclerosteosis patients while a chromosomal rearrangement creating a 52-kb deletion downstream of this gene was found in Dutch patients with van Buchem disease. This deletion most likely suppresses SOST expression. Sclerostin, the SOST gene product, has been shown to play a role in bone metabolism. The two siblings reported here were evaluated at the molecular level by carrying out a mutation analysis of the SOST gene. This resulted in the identification of a novel putative disease-causing splice site mutation (IVS1 + 1 G-->C) homozygously present in both siblings.
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PMID:A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. 1586 24


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