Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Only 2 comprehensive surgical series, published in 1977 and 1983, have evaluated clinicopathologic features of the ascending aorta. Retrospective review of medical records and microscopic slides was performed on 513 consecutive patients with surgical resection of ascending aortic tissue (1985 to 1999). Patients were 2 to 89 years old (mean 59 y), and 303 (59%) were men. Aneurysm or dissection was the indication for surgery in 479. Aortic valves were also excised in 360. Systemic hypertension was present in 279, inherited connective tissue disease (ICTD) in 67, arteritis in 33, and acquired connective tissue disease in 16. Microscopy showed cystic medial degeneration (CMD) in 209, aortic dissection (AD) in 109 (with CMD in 56), normal media in 90, aortitis in 57 (with CMD in 14), and other findings in 48. The most significant, independent risk factor of CMD and AD was ICTD (confidence interval=7.61 and 2.26, respectively). Systemic hypertension was more common in patients with AD than without (P=0.0202). Normal media was the most common histologic finding associated with bicuspid aortic valve (P<0.0001). Among 57 patients with aortitis (giant cell in 39), ages ranged from 16 to 85 years (mean 64 y), and 42 (74%) were women; only 8 had Takayasu arteritis, and 11 had temporal or systemic arteritis. In surgically resected ascending aorta, the 3 most common histologic findings were CMD, AD, and normal media. ICTD, systemic hypertension, and bicuspid aortic valve were common comorbid findings. Giant cell aortitis occured predominantly in women, usually without systemic disease.
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PMID:Surgical pathology of the ascending aorta: a clinicopathologic study of 513 cases. 1693 61

Mesenteric arterial branch aneurysms are rare. Giant, multiple, mesenteric branch artery aneurysms are even more uncommon, and only a few reports exist in the literature. We describe a 73-year-old asymptomatic female found to have an abdominal bruit and subsequently diagnosed with multiple mesenteric branch artery aneurysms by computed tomography and angiography. In addition, the patient was found to have celiac artery occlusion at its origin. Risk factors include hypertension, hyperlipidemia, grandmultiparity, and tobacco dependence. She was treated successfully with open surgery including ligation of multiple branch aneurysms and vein bypass reconstruction to preserve hepatic and mesenteric artery flow. Our purpose is to review this uncommon entity in terms of diagnosis, etiology, treatment options, and literature review.
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PMID:Multiple giant superior mesenteric artery branch aneurysms. 1748 60

Renal cysts are common in old patients, and usually remain untreated. Giant renal cysts measuring more than 15 cm in greatest diameter are uncommon and the association with hypertension is very rare. We present a case of a 25-year-old woman with a giant right renal cyst associated with hypertension that was treated by laparoscopic excision, followed by resolution hypertension.
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PMID:Remission of hypertension after treatment of giant simple renal cyst: a case report. 2006 69

MYH9 has been proposed as a major genetic risk locus for a spectrum of nondiabetic end stage kidney disease (ESKD). We use recently released sequences from the 1000 Genomes Project to identify two western African-specific missense mutations (S342G and I384M) in the neighboring APOL1 gene, and demonstrate that these are more strongly associated with ESKD than previously reported MYH9 variants. The APOL1 gene product, apolipoprotein L-1, has been studied for its roles in trypanosomal lysis, autophagic cell death, lipid metabolism, as well as vascular and other biological activities. We also show that the distribution of these newly identified APOL1 risk variants in African populations is consistent with the pattern of African ancestry ESKD risk previously attributed to MYH9.Mapping by admixture linkage disequilibrium (MALD) localized an interval on chromosome 22, in a region that includes the MYH9 gene, which was shown to contain African ancestry risk variants associated with certain forms of ESKD (Kao et al. 2008; Kopp et al. 2008). MYH9 encodes nonmuscle myosin heavy chain IIa, a major cytoskeletal nanomotor protein expressed in many cell types, including podocyte cells of the renal glomerulus. Moreover, 39 different coding region mutations in MYH9 have been identified in patients with a group of rare syndromes, collectively termed the Giant Platelet Syndromes, with clear autosomal dominant inheritance, and various clinical manifestations, sometimes also including glomerular pathology and chronic kidney disease (Kopp 2010; Sekine et al. 2010). Accordingly, MYH9 was further explored in these studies as the leading candidate gene responsible for the MALD signal. Dense mapping of MYH9 identified individual single nucleotide polymorphisms (SNPs) and sets of such SNPs grouped as haplotypes that were found to be highly associated with a large and important group of ESKD risk phenotypes, which as a consequence were designated as MYH9-associated nephropathies (Bostrom and Freedman 2010). These included HIV-associated nephropathy (HIVAN), primary nonmonogenic forms of focal segmental glomerulosclerosis, and hypertension affiliated chronic kidney disease not attributed to other etiologies (Bostrom and Freedman 2010). The MYH9 SNP and haplotype associations observed with these forms of ESKD yielded the largest odds ratios (OR) reported to date for the association of common variants with common disease risk (Winkler et al. 2010). Two specific MYH9 variants (rs5750250 of S-haplotype and rs11912763 of F-haplotype) were designated as most strongly predictive on the basis of Receiver Operating Characteristic analysis (Nelson et al. 2010). These MYH9 association studies were then also extended to earlier stage and related kidney disease phenotypes and to population groups with varying degrees of recent African ancestry admixture (Behar et al. 2010; Freedman et al. 2009a, b; Nelson et al. 2010), and led to the expectation of finding a functional African ancestry causative variant within MYH9. However, despite intensive efforts including re-sequencing of the MYH9 gene no suggested functional mutation has been identified (Nelson et al. 2010; Winkler et al. 2010). This led us to re-examine the interval surrounding MYH9 and to the detection of novel missense mutations with predicted functional effects in the neighboring APOL1 gene, which are significantly more associated with ESKD than all previously reported SNPs in MYH9.
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PMID:Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene. 2063 88

Giant lipomas of the stomach are very rare, accounting for less than 3% of all benign tumors of the stomach. A clear-cut endoscopic differentiation between gastric lipomas and other submucosal neoplasms is not feasible, because routine endoscopic gastric biopsies do not reach the submucosal layer. Gastric submucosal lipomas can cause gastric ulceration as in the case presented below and in rare instances this may in turn promote gastric cancer. Therefore, complete pretreatment diagnostic evaluation is needed. We present a 52-year-old man with a 6-month history of epigastric discomfort, early satiety, decreased appetite, and dyspepsia. His weight was noted to be stable and he was iron deficient (hemoglobin 11.5 g/dl and ferritin of 5 g/dl). His past history included a gastric ulcer found on endoscopy 5 years ago for which he was on omeprazole 40 mg once a day, hypertension, hypercholesterolemia, and diabetes. Clinical examination revealed central obesity with divarification of recti muscles. He underwent a colonoscopy that was normal, and an oesophago-gastro-duodenoscopy that revealed a smooth extrinsic indentation of the anterior aspect of the distal stomach at around 50 cm. Biopsies of this were normal. A computed tomography scan was obtained () that demonstrated a 14 by 15-cm fatty tumor arising from the distal stomach with a couple of 5-mm nodes adjacent to tumor and no distant metastasis representing either a lipoma, liposarcoma or gastrointestinal stromal tumours. He subsequently underwent a subtotal gastrectomy. Macroscopically, the antrum was distorted by a huge submucosal intramural tumor mass. The antral mucosa was stretched over its surface and bore a central 15-mm ulcer surrounded by a raised border (). Microscopic examination confirmed an ulcerated benign submucosal lipoma. Our patient was symptomatic with a large gastric lipoma that necessitated surgical excision. Following surgery his postoperative recovery was uneventful, and he was asymptomatic when reviewed 4 weeks later. This case demonstrates a rare case of gastric lipoma causing gastric epithelial ulceration leading to iron deficiency.
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PMID:A rare case of iron deficiency. 2200 28

Giant basilar artery aneurysms are rarely associated with hydrocephalus. When it occurs the treatment usually addresses the hydrocephalus rather than the aneurysm itself, especially if it is already thrombosed. The treatment options include ventriculoperitoneal shunting and endoscopic third ventriculostomy, which may be related to high complication rates. However, reducing the intracranial hypertension may produce aneurysmal growth. We report a patient with obstructive hydrocephalus due to thrombosed giant basilar artery aneurysm. The patient initially presented with symptoms of increased intracranial pressure, and was managed by ventriculoperitoneal shunting with significant symptomatic improvement. Fifteen days after operation, the patient died due to a cerebrovascular event. We report a case that deteriorated because of cerebral infarction due to aneurysmal growth after ventriculoperitoneal shunting. We also discuss the treatment options in such cases.
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PMID:Obstructive hydrocephalus caused by giant basilar artery aneurysm. 2354 19

Giant cystic pheochromocytomas (GPCCs) are rare adrenal tumors and the majority of them present as asymptomatic. As a result GPCCs often remain undiagnosed until surgery and therefore the surgical team face a greater challenge in perioperative management. The present study describes the case of a 36 year-old woman with an undiagnosed GPCC, which was successfully resected despite the occurrence of perioperative cardiovascular events, including hypertension, hypotension, ventricular arrhythmias, acute heart failure, acute myocardial infarction, and the patient was discharged home without any recurrence. It should be considered in retroperitoneal tumour of patients with nonspecific symptoms and given adequate treatment to promote the perioperative safety.
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PMID:Undiagnosed giant cystic pheochromocytoma: A case report. 2662 87

Multiple giant aneurysms involving the coronary arteries are uncommon and rarely reported. In the presented case, a 63-year-old man with poorly controlled hypertension died suddenly. Gross autopsy examination showed multiple giant thrombus-filled coronary artery aneurysms, atherosclerotic coronary artery disease, and cardiomegaly. Histological sections of the coronary aneurysms showed atherosclerotic changes with both organized and fresh thrombus. Giant coronary aneurysm is defined as a segmental enlargement of a coronary artery with a diameter exceeding 20 mm or more. The main etiology of this nebulous entity is attributed to atherosclerosis and inflammatory or inherited connective tissue disorders with the remainder being congenital, infectious, or idiopathic. Before its cataclysmic presentation, when ruptured or thrombosed, giant coronary aneurysm usually has a silent clinical course. Sudden death owing to giant multiple coronary aneurysms is rare and mandates careful classification of the aneurysms and prudent search for autoimmune-mediated or genetically based factors for subsequent ancillary autopsy studies.
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PMID:Multiple Giant Coronary Artery Aneurysms: A Rare Cause of Sudden Cardiac Death. 2785 6

Giant intracranial aneurysms (ICGA) represent 3 to 5% of all intracranial aneurysms in adults. They are defined as arterial dilatations, with more than 25 mm in diameter. Despite important advances in the research of endovascular techniques of treating giant intracranial aneurysms, the management of these vascular malformations still poses great difficulties for neurologists and interventional radiologists. In particular, these challenges arise from the difficult and modified cerebral anatomy of patients with ICGA. Choosing the best treatment for patients with ICGA involves not only finding the perfect balance between the potential risks and benefits of endovascular treatment, but also taking into consideration the patient's biological condition and associated diseases. The aim of this paper is to describe the decisional algorithm of treating patients with giant intracranial aneurysms and factors which could influence the choice of endovascular technique. We report a clinical case of a 63-year-old female with cardio-vascular risk factors (atrial fibrillation, high blood pressure), diagnosed with a symptomatic giant aneurysm of the right internal carotid artery and multiple cerebral micro-bleeds. Given the very large size of the aneurysm, its characteristics as well as patient's associated comorbidities, it was decided to exclude the ICA aneurysm from circulation by occluding the parent vessel (right internal carotid artery) by using endovascular techniques. Also, a review of the literature on the currently available endovascular methods for treating patients with giant intracranial aneurysms was performed in order to see the indications and possible long-term complications of each method. In selected cases, the risks of serious complications associated with occluding a large cervical-cerebral vessel (as the internal carotid artery) are far exceeded by the risk for rupture of giant aneurysms, which is fatal in many cases. Nevertheless, it is of utmost importance to mention that, although the use of endovascular methods leads to a significant increase in life expectancy, a severe decline in quality of life might be experienced by these patients.
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PMID:Unruptured Giant Intracerebral Aneurysms: Serious Trouble Requiring Serious Treatment - Case Report and Literature Review. 3215 77

Introduction Splenic artery aneurysms (SAA) represent the most common visceral aneurysms. They are more frequent in women and their incidence increases with age, hypertension and multiparity. They are rarely symptomatic and so are mostly incidental findings. Treatment options include several open or endovascular techniques. Objectives Demonstrate the potential of a simple endovascular approach in a complex SAA. Materials and Methods Report on a case giant SAA treated successfully with an endovascular approach. Results A 58-year-old female patient was sent to the emergency department after an incidental finding of a giant SAA in an MRI due to chronic abdominal pain. A CT scan was made which confirmed a distal SAA with a diameter of 90 mm. The case was discussed with radiology and general surgery and it was decided that endovascular therapy was the best approach. The patient underwent proximal plug embolization of the splenic artery. The procedure was done without complications. In the post-operative period, there was no complication and no pain associated with the recovery. Ultrasonography before discharge revealed a near total thrombosed SAA. Conclusions Giant SAA are a rare entity that may appear as a difficult pathology to treat successfully. Their high risk of rupture makes their treatment an emergency that may require a collaboration with other medical specialties. An endovascular first approach can be a good treatment choice to minimize the rupture risk and to facilitate an open surgical repair when endovascular treatment is not satisfactory.
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PMID:A Rare Case Of A Giant Splenic Artery Aneurysm: A Simple Approach For A Complex Pathology. 3328 Mar 23


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