Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032463 (polycythemia vera)
 3,374 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors examined 143 members of a family, where they found 37 (= 25.87%) of Osler patients. It was only in 30% of these patients that the symptoms occurred before the tenth year of age. As in one patient the symptoms did not appear until the age of 58 years, the possibility cannot be excluded that symptoms of the disease will become manifest even in other, sill younger members of the family in the course of time. Epistaxis was observed in 93% of the cases, nephrorrhagia in no case, hepatopathy and gastrorhagy were found only once in each case. The X-ray examination revealed arteriovenous pulmonary aneurysm in 5 cases. As a rule, oestrogen treatment led to good results. A case of death occurred during an influenza epidemic in a severe anaemic patient. Clinical main symptoms of Osler's disease were epistaxis and arteriovenous fistulae which could be roentgenologically identified in the lung. Teleangiectasia could be detected during the autopsy besides vessel anomalies on the surface even in the bronchi, oesophagus, trachea, stomach, kidneys, small intestine and particularly in the large intestines. Conditions of iron deficiency may very often occur in osler Patients; they require a substituting treatment.
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PMID:[Studies on families with Osler's disease]. 7 32

714 cases of Fallot's tetralogy have been encountered over the last thirty years. A closed heart operation was undertaken in 472 patients. The mean age at operation was 5,1 years. In 87% of cases, a Blalock-Taussig anastomosis was carried out. The operative mortality was of the order of 3%. The operative risk was almost three times as large before the age of two years as after. The patients benefit by a demonstrable improvement of function after this operation, but it does not protect them from the complications of the condition (cervica abscess, Osler's disease, cerebro-vascular accidents) or from death. Open heart surgery was carried out in 403 patients. 161 as a primary procedure, and 242 after an initial palliative operation. The mean age at operation was 13.3 years. The operative mortality was 15%. The functional improvement was striking, and the patients appeared to be protected from the usual sequelae of the condition. On the other hand they cannot always be considered as cured: 16 died some time after the operation; 37% had pulmonary incompetence; 15% had a residual BSD; 8% had a block of both bundles, and 3% had a definitive atrio-ventricular block.
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PMID:[Long-term results of palliative operations and complete cure of tetralogy of Fallot]. 7 17

Rare causes for nosebleeding are different benigne and malignant tumors of the nose and aneurism of the internal carotid artery. Two cases of rupture of an aneurism of the internal carotid artery are reported. One case with a hemangioma of the nasolacrimal duct and the problematic therapy of epistaxis are discussed in cases with Osler's disease.
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PMID:[Rare causes for epistaxis (author's transl)]. 21 Mar 43

Endoscopic laser-coagulation was used 94 times in 14 patients to stop gastro-intestinal bleeding or coagulate potential bleeding sources during non-bleeding intervals. Lasting haemostasis was achieved in three cases of incomplete gastric erosion, one of gastric ulcer, one of duodenal ulcer and one of bleeding after antral rugectomy. It failed to stop severe arterial bleeding in a case of gastric carcinoma. Lasting haemostasis was achieved in six haemangiomas of the colon, one case of angiomatosis of the antrum with 62 individual sites, two of angiodysplasia of the colon, 17 lesions in Osler's disease of the oesophagus (2 cases), stomach (10) and duodenum (5). The procedure was performed in the course of diagnostic endoscopy with an argon-ion laser developed by the authors, which has a density of 0.7-1.3 W/mm2. No complications have been observed so far.
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PMID:[Clinical experiences with a new method of laser coagulation in gastrointestinal hemorrhages]. 30 4

Clinical experiences in a timespan of two and a half years with a human fibrinogen concentrate in head and neck surgery are reported. In 49 patients with different bleeding disorders tonsillectomies, adenectomies and nasal dermoplasties (Osler's disease) were carried out. In these cases primary hemostasis due to the fibrin adhesive combined with an allogenic collagen implant could be obtained without any subsitution of the deficient blood clotting factors. In all these cases no complications could be observed. In other 193 cases which underwent a surgical treatment in the head and neck region (frontobasal and laterobasal fractures, rupture of the carotid artery, closure of perforations of the nasal septum and oroantral fistulas, different methods of skinmucosa- and nerve-grafting) the fibrin adhesive was successfully used.
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PMID:[Clinical experiences with a human fibrin adhesive in head and neck surgery (author's transl)]. 37 83

Most of cutaneous hereditary diseases are associated with digestive symptoms but only four groups have a predominated digestive symptomatology: I. Hereditary disease with intestinal polyposis. II. Vascular dysplasias with intestinal haemorrhage. III. Connective tissue discover in hereditary diseases. IV. Acrodermatitis enteropathica with diarrhoea. Though very different with one another, Peutz-Jeghers syndrome and Gardner's syndrome are transmitted according to autosomal dominant trait. Only bi- or unigenic origin is still controversed. Rendu-Osler's disease and blue rubber bled naevus also transmit according to autosomal dominant trait. Pseudoxanthoma elasticum is very likely transmitted according to autosomal recessivity. But the main forms of Ehlers-Danlos disease are autosomal dominant conditions, the other form being either autosomal recessive or sex-linked (type V). Acrodermatitis enteropathica is transmitted according to autosomal recessivity but the gene has a very variable penetrance so that the mutations are very common.
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PMID:[Genetics of hereditary cutaneous diseases associated with digestive tract involvement]. 38 73

When performed by a team who are experienced in the use of embolization of the external carotid region, this procedure is nowadays a safe and extremely effective method for treating severe, massive, uncontrolled, recurrent epistaxis. Arteriography shows the site of bleeding, the nature of the lesion, and the arteries affected. When carried out by the femoral or common carotid route, this method was effective in 52 cases of severe epistaxis of various origins: essential epistaxis, or from hypertension, trauma, Rendu Osler's disease, vascular malformations, carotidocavernous fistulae, benign or malignant tumors, hematological affections, or hemostatic disorders. To avoid risk it is essential that a perfect technique be used and a certain number of principles respected. The method is effective in cases were surgical hemostasis is insufficient, and its rapidity of action allows removal of packs immediately after embolization. This clearly underlines the value of constantly available vascular radiology units for treatment in this region as well as in other parts of the body.
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PMID:[The value of embolization in severe epistaxis. Indications and methods (author's transl)]. 49 Apr 77

A patient with Osler's disease (hereditary haemorrhagic telangiectasia) was admitted to hospital because of obstinate, profuse conjuctival bleeding occurring without any known preceding rrauma. Extensive examination of the haemostatic mechanism revealed an impaired platelet function reflected in defective platelet aggregation by ADP, collagen adrenalin and defective clot retraction. This platelet dysfunction, whose association with conjunctival telangiectasia was hitherto unknown, impaired the patient's already deficient primary haemostasis following the vascular anomaly and apparently contributed to the severity of the bleeding which could only be checked surgically. The findings seem to warrant investigation of the platelet function in patients with Osler's disease. In the event of platelet dysfunction drugs, such as acetylsalicylic acid (aspirin), indomethacin, dextrans as well as transfusions with bank blood are contraindicated.
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PMID:Conjunctival bleeding in Osler's disease with associated platelet dysfunction. A case report. 58 Mar 38

Between 1965-1972, 12 patients with Osler's disease of the nose were treated surgically by a modification of the method suggested by Saunders. The mucosa of the entire nasal septum and entire floor of the nose up to the insertion of the inferior turbinate was removed without interference to the perichondrium or periosteum. The denuded area was covered with split thickness skin graft taken from the thigh. Haemorrhage, which was never severe, occassionally occurred. In all patients, there occurred crusting and foetor, which was controlled by nasal douching. Patients with Osler's disease should be treated as early as possible in order to curtail the work disability.
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PMID:[Intranasal skin grafting for Osler's disease (author's transl)]. 78 1

A 3 month's old baby with Uhl's disease is reported. The diagnosis was made by cardiac catheterization and angiographic evaluation of right atrial and ventricular chambers and was confirmed by autopsy and histopathological examination. The particular features which allow angiographic differentiation from Ebstein's anomaly are considered. On the grounds of anatomical, clinical, and prognostic aspects, it is proposed that the definition of Uhl's anomaly be reserved for cases in infancy only, using the term Osler's disease for adult cases.
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PMID:[Uhl's anomaly: case description with hemodynamic study and autoptic report (author's transl)]. 85 66


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