Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034067 (emphysema)
 11,506 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The rare tussive syncope syndrome, which can lead to a road traffic accident, occurs almost solely in the male aged 40 years and over with a pyknic to athletic physique, who suffer from obstructive respiratory tract disease and/or pulmonary emphysema. Frequently there is a correlation between the illness and alcohol and tobacco consumption. Loss of consciousness lasting only a few seconds occurs a few seconds after a coughing attack leaving behind a short loss of memory. Tussive syncope can be a solitary event, but can also occur up to thirty times a day. In foro, characteristically the link between a heavy coughing and loss of consciousness as well as the type of person make diagnosis easier. The suitability of the subject to hold a driving licence should be judged carefully and on individual criteria.
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PMID:[Cough syncope as a cause of traffic accident]. 232 4

Keutel syndrome (KS) [OMIM 245150] is an autosomal recessive hereditary syndrome characterized by multiple peripheral pulmonary stenoses (PPS), brachytelephalangia, inner ear deafness, and abnormal cartilage ossification or calcification. Mutations in the matrix Gla protein (MGP) gene have been reported in different unrelated families with KS previously. MGP is an extracellular matrix protein and calcification inhibitor; mutations in its encoding gene result in cartilage ossification or calcification, the main presenting feature of KS. This report describes the findings of four sisters with KS born to consanguineous parents were followed for 26 years in an irregular fashion. During follow-up of the patients over the years the complications appear to be mostly involving the respiratory system. Permanent skin rashes, papillary microcarcinoma of the thyroid, asthma, massive bullous pulmonary emphysema, severe systemic arterial hypertension, and short term memory loss were observed during long term follow-up. The fertility status of the patients were also observed and infertility was observed in one of three married patients.
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PMID:Long term follow-up of four patients with Keutel syndrome. 2512 78