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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Victor and his associates coined the term oculopharyngeal muscular dystrophy to describe a clinical syndrome characterised by dysphagia and ptosis. Subsequent authors have traced a large series in French Canadians to a single Quebec isolate and have emphasized that the condition is usually inherited as a dominant trait. In 1974 Fried reported two isolated cases in an Ashkenazi Jewish family of Hungarian extract in whom the condition was recessively inherited. In this paper we report an Irish family from North Cork with typical features of oculopharyngeal muscular dystrophy in whom the inheritance pattern is dominant with incomplete expression. In reporting such cases the ethnic and genetic heterogeneity of oculopharyngeal muscular dystrophy is highlighted. Case Report 1. A 68 year old farmer was admitted for investigation of recurrent chest infections. He complained of a 20 year history of progressive difficulty swallowing, productive cough and impaired vision. On examination he had a gaunt expressionless appearance with bilateral ptosis to mid pupillary level. Both right and left gag reflexes were noted to be reduced and sluggish, and on swallowing fluids were noted to regurgitate through his nostrils. Chest examination revealed the presence of bibasal coarse crepitations suggestive of aspiration. No further physical abnormalities were noted. On investigation, full blood count, urea, and electrolytes, liver function tests, sedimentation rate, thyroid function tests, muscle enzymes (PK, LDH) and electrocardiogram were normal. Chest radiograph confirmed aspiration. Tensilon test was negative. Oesophagoscopy outruled organic obstruction, and confirmed sluggish pharyngeal muscular activity. A clinical diagnosis of oculopharyngeal dystrophy was made on the basis of associated ptosis and dysphagia occurring in the presence of a supportive family history.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Oculopharyngeal muscular dystrophy in an Irish family. 275 12

Sarcoidosis is a multisystemic granulomatous disease of unknown etiology which affects most frequently the hilar lymph nodes and lungs. Symptomatic involvement of the central nervous system may develop in patients diagnosed with sarcoidosis or it may be the initial manifestation of the disease. This is a case report of 48-year old female patient admitted to our clinic for evaluation of working ability. The patient had a total of 24 years of service and occupational exposure and she has been employed as supplies procurement officer. On admission, she complained of the following discomforts: eye-lid pain, intellectual fatigue, psychic uneasiness, forgetfulness, dyspnea and productive cough. Neurological findings indicated the presence of the right eye ophthalmoplegia, psychoorganic syndrome and neurosarcoidosis. Ophthalmological examination evidenced bilateral ptosis and presence of anisocoria. Magnetic resonance imaging revealed discrete focal lesions of the pons (paracentral left) and parietal corona radiata of the left hemisphere. Based on performed examinations and diagnostics procedures, final evaluation of patient's working ability concluded that the patient was not capable of psychic strains and jobs associated with material accountability.
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PMID:[Work ability evaluation in neurosarcoidosis--a case report]. 1697 13