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)

Central nervous system is rarely involved in progressive systemic sclerosis (PSS) unless there are concomitant abnormalities in renal or lung function or hypertension. A 72-year-old woman with typical PSS developed cerebellar bleeding. Medical history records revealed, she had noted the onset of Raynaud's sign on her upper extremities at the age of 37. This was followed by necrosis and repeated infection, and as a result, shortening of her fingers in her 40's. The disease progressed and involved lower extremities, and then face and body in her 50's. Aortic valve stenosis was diagnosed at 69 year old, cardiac myopathy at 70 and at the age of 71 infectious dermatitis in both inguinal regions. Mild anemia, hypoalbuminemia and the decrease of serum Fe were discovered in June 1988. At the same time, prolonged ESR, positive C-reactive protein, RA, and anti-nuclear-antibody were also noticed. A chest roentgenogram revealed pulmonary fibrosis. Systemic hypertension was not noticed on the clinical course. She developed an onset of vertigo and vomiting in the morning of August 8, 1988. Consequently, she was brought to our hospital. She was alert but a physical examination showed a swallowing disturbance, dysarthria, right cerebellar ataxia, nystagmus and hypertension (192/100 mmHg). A CT examination on admission revealed a slightly low density area in right cerebellar hemisphere without mass effect. She was treated with dextran and mannitol and her condition improved on the 6th day of her admission. She was alert and blood pressure calm down to 120/70 mmHg without the use of anti-hypertension drugs on August 21.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of progressive systemic sclerosis associated with a hemorrhagic infarction of the cerebellum]. 235 21

In the present survey, we investigated the side effects of anticonvulsants in 248 epileptics who had been taking medicine for a long time. About half of the patients had been given anticonvulsant treatment for more than 11 years. The main results were as follows: Subjective symptoms: many kinds of gastrointestinal symptoms, general fatigability and sleepiness. slight pain in bones, joints or muscles and headache were found. Neurological symptoms: finger tremor at rest, diminished or decreased ankle reflex, and cerebellar symptoms such as ataxic gait, dysarthria, nystagmus and diplopia were found. Other clinical symptoms: gingival hyperplasia, hirsutism, dermatitis and edema were observed. Biochemical examinations: indicated that the total bilirubin was decreased in 4.4%, serum AL-P was elevated in 26.2%, the total serum cholesterol increased above 200 mg/dl in 17.7% and decreased below 150 mg/dl in 8.9%, and serum P and K were reduced in 31.5% and 2.4%, respectively. Hypocalcemia was found in only four cases (1.6%). Hematological examinations: serious disturbances were not found in hematopoietic functions, although prothrombin time was delayed in 18 of 40 patients examined.
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PMID:Study of the side effects of long-term anticonvulsant treatment. 721 11

Recognized specific risks of industry considered.Under Section 73, Factory and Workshop Act, certain diseases contracted in a factory or workshop are notifiable by medical practitioners to the Chief Inspector of Factories.Lead poisoning, epitheliomatous and chrome ulceration and anthrax-considered in detail.Effects of inhalation of dust in the causation of silicosis and asbestosis. Relation of these diseases to tuberculosis. Reason to believe that a large number of dusts of different characters will create pathological changes in the lung.Other diseases included in the Schedule under the Workmen's Compensation Act, e.g., nystagmus and dermatitis.Common risks, i.e., shared by the general non-industrial population, incurred by workers.Direct supervision of workers in industry.The sphere and work of a works medical officer. The effects of National Health Insurance on such service. Co-operation between panel and works doctors. Far-reaching effects of the services rendered by works medical officers.Periodic medical inspection under regulations for dangerous trades. Advice given on all medical matters.The charge that industry raises the cancer incidence considered. Means of controlling early recognition and treatment include some non-industrial cases of cancer.Anthrax in industry led to the introduction into the country of Sclavo's serum. Disinfection of wool protects the consumer.First-aid training in factories gives protection in the home.It is suggested that well-organized industry is a centre radiating the principles of preventive medicine.
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PMID:The Influence of Industry on Public Health. 1998 74

Sterol-C4-methyl oxidase (SC4MOL) deficiency was recently described as an autosomal recessive cholesterol biosynthesis disorder caused by mutations in the MSMO1 (sometimes also referred to as SC4MOL) gene. To date, 5 patients from 4 unrelated families with SC4MOL deficiency have been reported. Diagnosis can be challenging as the biochemical accumulation of methylsterols can affect global development and cause skin and ocular pathology. Herein, we describe 2 siblings from a consanguineous Turkish family with SC4MOL deficiency presenting with psoriasiform dermatitis, ocular abnormalities (nystagmus, optic hypoplasia, myopia, and strabismus), severe intellectual disability, and growth and motor delay. We undertook whole-exome sequencing and identified a new homozygous missense mutation c.81A>C; p.Asn27Thr in MSMO1. Segregation analysis in all available family members confirmed recessive inheritance of the mutation. The siblings were treated with a combination of oral and topical statin and cholesterol which resulted in clinical improvement. This study demonstrates how genomics-based diagnosis and therapy can be helpful in clinical practice.
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PMID:New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis. 3316 6