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 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Acute dissection of the aorta is a rare disease which, when left untreated, has a disastrous prognosis. Two aetiological factors are essential: acquired or congenital fragility of the aortic elastic tissue, and arterial hypertension. The condition must be diagnosed as early as possible to avoid a fatal outcome: it is a surgical emergency. The clinical diagnosis rests on a history of migrating pain and on the presence of signs of ischaemia in a vascular territory. It is confirmed by complementary investigations, chiefly angiography. Acute dissection of the ascending aorta is treated by surgery: the ascending segment is resected, the distal cylindres are recoupled to close the portal of entry, and the aortic regurgitation is treated by valvuloplasty or aortic valve replacement. The introduction of the GRF biological glue has considerably improved the per-operative prognosis and lowered the hospital mortality to 10%. Long-term post-operative follow-up of the patient is crucial, since iterative dissection and formation of aneurysms are not exceptional, especially in patients with Marfan's syndrome.
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PMID:[Acute dissection of the aorta in 1986. Proposal for a new anatomopathological classification]. 294 2

A long-term hemodialysis patient with a giant intracranial vascular channel, which has been called a giant serpentine aneurysm, is presented. A 50-year-old man with an eight-year history of hemodialysis treatment was admitted because of headache, nausea and double vision. Computed tomographic scans and nuclear magnetic resonance revealed intracranial abnormal shadow. The left vertebral arteriography showed that the distal portion of the left vertebral artery was dilated to 17 mm in diameter. The basilar artery showed a large tortuous vascular channel and globular aneurysms over 25 mm in diameter. This giant serpentine aneurysm is a rather rare disease. To our knowledge, it has not been reported as a complication in a hemodialysis patient, although fourteen cases have been reported in the literature. In our case, several conditions such as long-term hypertension, hyperlipidemia, hypercalcemia, atherosclerosis and abnormal blood flow due to arteriovenous fistula for hemodialysis treatment might be considered to play a role in the formation of the giant serpentine aneurysms.
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PMID:Giant serpentine aneurysm in a long-term hemodialysis patient. 318 May 24

Steroid 17 alpha-hydroxylase (cytochrome P-450(17)alpha) mediates both 17 alpha-hydroxylase and 17,20-lyase activities. A relatively rare disease, 17 alpha-hydroxylase deficiency is characterized by defects in either or both of these activities. The molecular basis for variability of the defect is not well understood. We have determined the exonic sequence of the mutant P-450(17)alpha gene from one Japanese patient with combined 17 alpha-hydroxylase/17,20-lyase deficiencies. A stop codon (TGA) due to a single point mutation was found at the position of amino acid 17 in exon 1 of the P-450(17)alpha gene. The presence of a stop codon in the N-terminal region of this gene leads to the absence of a functional P-450(17)alpha protein in adrenal cortex and ovary, and consequently hypertension, primary amenorrhea and osteoporosis in this patient.
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PMID:Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450. 326 89

Mooren's ulcer is a rare disease of presumed autoimmune aetiology. Some cases run a chronic severe course and fail to respond to local and systemic therapy. We report here such a case with bilateral Mooren's ulcer that failed to respond to local therapy with topical corticosteroids, silver nitrate, and conjunctival resection, as well as systemic immunosuppression with corticosteroids, cyclophosphamide, and azathioprine. Systemic cyclosporin (10 mg/kg/day) resulted in resolution of the corneal ulceration within two weeks of beginning treatment, and the patient has remained in remission after 15 months of therapy. Cyclosporin side effects included hirsutism, hypertension, increased blood levels of urea and creatinine, and abnormalities in liver function tests. All these resolved on reducing the dosage of cyclosporin. The results in this case suggest that cyclosporin is an effective agent in patients with severe sight threatening Mooren's ulcer.
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PMID:Cyclosporin therapy in Mooren's ulcer. 362 Apr 20

Liposarcoma of the mediastinum is a rare disease. A 59 year old woman was seen with the complaint of dizziness. A chest radiogram taken during the course of investigation for hypertension revealed a large mass shadow 24 X 18.5 X 12 cm located in the anterior mediastinum. The tumor of the mediastinum was diagnosed as a benign lipoma when it was first resected, but subsequently proved to be a liposarcoma when it re-appeared 2 years and 10 month later. Based on the WHO classification, the mixed type of liposarcoma was diagnosed. The salient and pathological features of mediastinal liposarcoma are reviewed and compared with those nine cases reported in Japan and fifty in North America and European countries. Treatment by simple enucleation or shelling out of the tumor should be discouraged, since this seems to be the main cause of local recurrence. Surgical wide en bloc excision is the treatment of choice.
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PMID:Primary liposarcoma of the mediastinum--a case report and review of the literature. 377 60

Ureteral varices have been considered to be a relatively rare disease. Recently, reports on varices have been increasing with the development of X-ray examination, especially with the popularization of renal phlebography. We diagnosed left ureteral varices in 8 cases by renal venography. In 7 of these cases, gross hematuria was the main symptom, and varicocele accompanied it in the other case. In 7 cases of hematuria, surgery, ligation and removal of the varices was performed as palliative therapy for symptom; and, in all 7 cases, the gross hematuria disappeared in 7 to 18 months postoperatively. Ureteral varices should be classified into idiopathic and secondary types. In the case of idiopathic varices, a regional operation is sufficient to prevent venous reflux of the ureteral vein, and extensive surgery is needed in cases of collateral circulation on the venograms and secondary varices because of the unchangeable postoperative venous hypertension. We concluded that surgical treatment of ureteral varices is effective and is a useful palliative procedure in spite of the short postoperative follow up.
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PMID:[Surgical experience of ureteral varices]. 646 8

A rare disease with an obscure etiology is described. It affects predominantly the aorta and occasionally some of its branches, producing a decrease on the lumen vessel. In our experience it has been diagnosed in four young patients and the most important symptom has been arterial hypertension. In three cases the thoracic aorta was involved, with aneurysmal dilatation in one of them. In the rest the thoracic as well as the abdominal aorta were involved. All of them were treated surgically; on three, a latero lateral by pass was performed and in the fourth an aneurysmal resection was done and the aorta reconstructed with a dacron prosthesis. The clinical follow up 4 1/2 years later, showed normal arterial pressure, and patent by-passes, on angiography. We conclude that the revascularization technique can change the natural history of this disease.
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PMID:[Occlusive aorto-arteropathies: surgical treatment and long-term results in 4 cases treated surgically]. 663 12

Leiomyosarcoma of the inferior vena cava is a rare disease with protean manifestations related to the location of the tumor. Urological manifestations of the disease are rare and include renal vein thrombosis and renovascular hypertension. Approximately 63 cases have been reported in the literature, with a striking female predominance. Presentation as an isolated suprarenal mass has not been reported previously. We discuss this unusual tumor and report a case that presented as an asymptomatic suprarenal mass.
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PMID:Leiomyosarcoma of the inferior vena cava presenting as a suprarenal mass. 688 12

Once viewed as hopelessly incurable disorders and the dustbin for careers in academic medicine, the polycystic kidney diseases have emerged as prime targets of pathophysiologic study and palliative and definitive treatment in the era of molecular medicine. Polycystic kidney disease (PKD) may be hereditary or acquired. The major inherited types are autosomal dominant (AD) and autosomal recessive (AR). ADPKD is caused by at least two (and possibly three) genes located on separate chromosomes, while ADPKD-1 is due to a 14 kb transcript in a duplicated region on the short arm of chromosome 16 very near the alpha-globin gene cluster and the gene for one form of tuberous sclerosis. ADPKD-2 has been assigned to the long arm of chromosome 4. ARPKD is due to a mutated gene on both copies of the long arm of chromosome 6. Cysts originate in renal tubules. Proliferation of tubule epithelial cells modulated by endocrine, paracrine, and autocrine factors is a major element in the pathogenesis of renal cystic diseases. In addition, fluid that is abnormally accumulated within the cysts is derived from glomerular filtrate and, to a greater extent, by transepithelial fluid secretion. Abnormal synthesis and degradation of matrix components associated with interstitial inflammation are additional features in the pathogenesis of renal cystic diseases. The ADPKD genotypes are characterized by bilateral kidney cysts, hypertension, hematuria, renal infection, stones, and renal insufficiency. ADPKD is a systemic disorder; cysts appear with decreasing frequency in the kidneys, liver, pancreas, brain, spleen, ovaries, and testis. Cardiac valvular disorders, abdominal and inguinal hernias, and aneurysms of cerebral and coronary arteries and aorta are also associated with ADPKD. Treatment is supportive: dietary regulation of salt and protein intake, control of hypertension and renal stones, and dialysis and transplantation at the end stage. ARPKD is a relatively rare disease that causes clinical symptoms at birth, with significant mortality in the first month of life. The cysts develop primarily in the collecting ducts because of a failure in the maturation process. Early complications include Potter's syndrome; excessive size of the kidneys, causing respiratory dysfunction; hypertension; and renal insufficiency. Hepatic fibrosis is an associated extrarenal problem that results in significant morbidity in young children and adolescents. Treatment includes supportive care, dialysis, and renal transplantation. Acquired cysts (solitary/simple) are commonplace in older persons. Multiple cysts may be seen in association with potassium deficiency, congenital disorders, metabolic diseases, and toxic renal injury.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Polycystic kidney disease: etiology, pathogenesis, and treatment. 758 86

Sneddon's syndrome is a rare disease characterised by cerebrovascular ischaemic attacks and generalised livedo. Since previous observations, other symptoms were described: involvement of heart, of kidney, arterial hypertension, complicated obstetric or gynaecologic history in women. Prognosis is highly variable, depending on extent and speed of progression of cerebrovascular changes, which can lead to severe permanent mental deterioration. In livedo, histopathology shows pathological changes of small to medium-sized dermal arteries in a distinct time sequence: an early phase localized in endothelium followed by a late fibrotic phase. No specific laboratory findings are found. Recently some cases were reported in association with antiphospholipids antibodies. The etiopathogeny of Sneddon's syndrome is still unknown and could result from different processes: progression to an autoimmune disease such as lupus erythematosus, primitive endarteritis obliterans, or a new clinical expression of the antiphospholipid antibodies syndrome. At present, none of the therapeutic modalities provides significant improvement.
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PMID:[Sneddon syndrome]. 770 55


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