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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pulmonary arterial hypertension is a rare disease that is characterized by increased pulmonary vascular resistance and right heart failure. Recent advances in the understanding of pulmonary arterial hypertension have been translated into effective therapies tested in clinical trials. These trials have used surrogate end points as the primary outcomes of interest. However, it is not clear which potential surrogate end points are reliable and valid for studying pulmonary arterial hypertension. Identification of suitable end points not only would help investigators design appropriate clinical trials but would assist clinicians in caring for this patient population. Hemodynamic, echocardiographic, neurohormone, and exercise measures hold some promise as potential surrogate end points for clinical trials of therapy for pulmonary arterial hypertension. Hemodynamic measures have the most evidence to support their use. Functional studies, such as the distance walked in 6 minutes, also may be meaningful. We present the available data as well as the strengths and weaknesses of each metric. Further studies should focus on validating the most promising of these surrogate end points, so that future investigators, subjects, and patients may benefit from the advantages they confer on clinical trials and patient care.
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PMID:Surrogate end points for pulmonary arterial hypertension. 1545 83

It is possible to identify renal cysts in several subjects by ultrasonography imaging techniques. Among the inherited polycystic kidney diseases we include autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic diseases such as von Hippel-Lindau disease, tuberous sclerosis complex (TSC1 and TSC2), and autosomal dominant polycystic kidney disease (ADPKD). ARPKD is a rare disease, related to PKHD1 gene, located on chromosome 6p21, that encodes a protein named polyductin/fibrocystin. Pathoanatomical features are bilateral kidney involvement with multiple microcysts, and invariably liver involvement with portal and interlobular fibrosis. A single genetic defect leads to different degrees of renal and hepatic involvement with very different phenotypes and different clinical outcome, in the same family too. ARPKD clinically may show 4 different forms: perinatal, neonatal, infantile, and juvenile. ADPKD is much more frequent (1: 400-1000 live births), and can arise from mutations in 2 different genes, named PKD1 located on chromosome 16p13.3, and PKD2 located on chromosome 4q21-23. The proteins encoded by the PKD1 and PKD2 genes are named polycystins which play crucial roles in several biologic processes. To explain the focal lesions that affected different organs and tissues the "double hit" theory has been proposed (germinal mutation plus somatic mutation on PKD1 or PKD2). Recently, biologic evidence documented the crucial role of the renal primary cilia on the formation of polycystins to induce cystogenesis. ADPKD may be clinically characterized by abdominal pain, hypertension, episodes of gross hematuria, headache, renal stones, aortic and cerebral aneurysms, mitral valve prolapse, and polycystic liver disease. ADPKD is slowly progressive disease responsible for up 10% of end stage renal failure (ESRF) in every country of the world. Male sex, PKD1 gene, episodes of gross hematuria, and the precocity and severity of hypertension play an important role in the progression of renal disease to ESRF.
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PMID:Autosomal recessive and dominant polycystic kidney diseases. 1578 25

Classic polyarteritis nodosa (c-PAN) is a rare disease in adults and extremely rare in children. We report a 3-year-old girl with c-PAN who presented with disturbances of consciousness and hypertension. Cranial tomography showed a subarachnoid hemorrhage. Subsequent magnetic resonance imaging and magnetic resonance angiography demonstrated subarachnoid hemorrhage and acute ischemic lesions. Renal angiography revealed bilateral multiple aneurysms. Due to her constitutional symptoms and hypertension and radiological findings she was diagnosed as having c-PAN. She was successfully treated with hydralazine followed by angiotensin-converting enzyme inhibitor, calcium channel blocker, intravenous pulse methylprednisolone, and subsequently oral prednisolone and oral cyclophosphamide. To our knowledge this is the youngest patient with c-PAN presenting with subarachnoid hemorrhage. Malign hypertension at this young age deserves a meticulous investigation of the vascular origin. Furthermore, treatment with pulse methyl prednisolone followed by oral prednisolone and oral cyclophosphamide is a successful modality of treatment in such a life-threatening presentation of c-PAN in childhood.
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PMID:An unusual presentation of classic polyarteritis nodosa in a child. 1580 32

Pulmonary veno-occlusive disease, a rare cause of pulmonary hypertension, is characterized by extensive and diffuse occlusion of pulmonary veins by fibrous tissue. Although the diagnosis can be suspected by the presence of the classic clinical triad of severe pulmonary arterial hypertension, radiographic evidence of pulmonary hypertension and edema, and normal pulmonary artery occlusion pressure, the definitive diagnosis is histopathologic. The prognosis of pulmonary veno-occlusive disease is poor with most described patients dying within 2 years of diagnosis. Although anti-coagulation, oxygen, and vasodilator therapies are effective temporarily, the definitive treatment is lung transplantation. We describe the recurrence of pulmonary veno-occlusive disease at 3 months after heart-lung transplantation in a 26-year-old man. Recurrence after transplantation for this disease has not been reported previously, and lung transplantation was thought to be definitive treatment. With this 1st report of early recurrence of pulmonary veno-occlusive disease after heart-lung transplantation, we believe that extrapulmonary factors may play a role in the pathogenesis of this rare disease.
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PMID:Recurrence of pulmonary veno-occlusive disease after heart-lung transplantation. 1589 67

Nontraumatic arterial dissection of the anterior cerebral artery (NAD-ACA) is a relatively rare disease entity, although case reports have recently been increased. We treated 6 patients suffering from NAD-ACA from January 1996 to December 2003, and the neuroradiological findings together with the clinical courses were reviewed. There were 3 males and 3 females with a mean age of 57.7-year-old, ranging from 41 to 65. Five patients had a past history of hypertension and one diabetes mellitus. At the onset, all patients presented with clinical manifestations of cerebral ischemia. Among them, all exhibited contralateral hemiparesis with greater weakness of the lower extremity, and two patients exhibited headache. Initial angiography revealed the pearl and string sign in four patients and string sign, tapered occlusion in each one. Follow-up angiographies revealed sequential changes in all patients; four improved and two progressed. Main anatomic site of the lesion was as follows; five in the A2 and one in the A1 portion, in addition, one patient was complicated by saccular aneurysm, one by PCA dissection, and two had with saccular aneurysm contralateral ACA & MCA and VA dissection each other. Four patients were treated conservatively by intravenous administration of argatroban, one by intravenous administration of Dextrane and one by anti-platelet agent in the acute stage. All patients were treated by anti-platelet agents in the chronic stage. Good recovery was achieved in five patients, but one who suffered from severe subarachnoid hemorrhage in the chronic stage died. Our experience suggests that hypertension and/or the succeeding abnormal structural changes in the arterial wall may contribute to the occurrence of this disease. NAD-ACA showing clinical manifestations of cerebral ischemia could result in a relatively good prognosis; however, attention should be paid to patients treated conservatively with a very closed follow-up angiography to prevent a possibility of severe hemorrhage.
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PMID:[Nontraumatic arterial dissection of the anterior cerebral artery: six cases report]. 1602 47

Primary pulmonary arterial hypertension (PPH) is a rare disease of undetermined origin and fatal prognosis. A better prognosis is associated with at least 20% reduction of either pulmonary artery pressure or pulmonary vascular resistance ("responders") in acute vasodilatory trials. Prostacycline (PGI2) or nitric oxide (NO) administration promises valuable results. NO is one of the most powerful vasodilating agents, endogenously produced by endothelial cells. It migrates from these cells to smooth muscle cells and stimulates production of cGMP, that induces smooth muscle relaxation. cGMP is hydrolyzed by 5-phopshodiesterase (PDE-5). Several papers documenting hypotensive effect in pulmonary circulation of specific PDE5 inhibitor--sildenafil (Viagra--Pfizer) have been published recently. We present a case report of a 26 year old female patient with PPH--"nonresponder" in a trial with NO--and NO responder after sildenafil administration. Initial values were: mean pulmonary artery pressure (mPAP) was 58 mmHg, pulmonary vascular resistance was 10.9 Wood's units. mPAP and PVR during NO inhalation (40 ppm) decrease from 62 to 54 mmHg and from 11.4 to 10.3 Wood's units, respectively. Measurements performed 60 minutes after 50 mg of sildenafil orally disclosed a 19% reduction of mPAP and 21% reduction of PVR. NO inhalation caused further decrease of both parameters: mPAP was decreased for additional 28% and PVR for additional 36% in comparison to initial results. Neither peripheral hypotension nor other side effects were observed. A month-long administration of sildenafil in a dose 2 x 25 mg daily reduced mPAP and PVR to values reported for the acute trial. Physical capability improved also. It was assessed as increased distance in a six-minute-walk test (280 vs. 400 m in the first week of treatment, and 330 m in a fourth week of treatment). Echocardiography showed moderate decrease of right ventricle and right atrium diameters, along with decrease of the degree of relative tricuspid regurgitation with unchanged maximal velocity of regurgitant wave. Specific PDE-5 inhibitors might be an attractive alternative in the treatment of pulmonary hypertension in case the above noted observations are confirmed.
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PMID:[Sildenafil reduces pressure and pulmonary resistance and increases susceptibility of pulmonary arteries to nitric oxide in primary pulmonary arterial hypertension]. 1609 62

A young, non-obese woman aged 24 years with normal blood pressure developed intracranial hypertension after the oral use of tetracycline. Neuro-ophthalmologic examination revealed severely reduced acuity, papilledema, and concentric impaired visual fields. She was treated with acetazolamide and recurrent lumbar punctures and recovered, but without improvement in either acuity or visual fields. Intracranial hypertension is a fairly rare disease characterised by increased intracranial pressure without structural abnormalities in the brain or hydrocephalus, and is termed idiopathic in the absence of an underlying cause. Tetracycline should be considered as a cause of intracranial hypertension if a patient complains of previously unknown headache a few days after its ingestion. Headache and the presence of bilateral papilledema, decreased visual acuity and visual-field defects are indications for urgent referral to a neurologist. Therapy consists of a combination of repetitive lumbar punctures and medication. Surgical interventions include lumboperitoneal shunting and optic nerve fenestration. Intracranial hypertension may lead to irreversible decreased visual acuity and visual-field defects resulting in disability.
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PMID:[Intracranial hypertension with severe and irreversible reduced acuity and impaired visual fields after oral tetracycline]. 1637 24

Chronic thromboembolic pulmonary hypertension (CTEPH), a disease associated with considerable morbidity and mortality, is the consequence of unresolved thromboembolic occlusion in pulmonary vasculature. CTEPH was considered a rare disease occurring in 0.1-0.5% of patients with pulmonary emboli who survive. Recently, a much higher incidence was reported and some risk factors such as a previous pulmonary embolism (PE), an idiopathic form of PE and the severity of perfusion defect at the time of diagnosis have been identified. Exertional dyspnea is the main symptom at the beginning of the disease while later on patients may suffer from syncope related to low cardiac output or hemoptysis as a consequence of high pulmonary artery pressure. In suspected patients, a confirmation of pulmonary arterial hypertension should be ascertained at transthoracic echocardiography. Then the obstructive nature of the disease may be revealed by ventilation-perfusion lung scan but is better described at pulmonary angiography. Computed tomography scan may be useful to rule out confounding disorders. To prevent recurrences, long-term oral anticoagulants to maintain an INR between 2.5 and 3.5 (target 3.0) are indicated. Treatment of severe CTEPH is essentially surgical (thromboendarterectomy). This procedure may be difficult when distal branches of pulmonary vascular tree are involved. In selected cases, alternative therapies may be the arterial pulmonary vessel angioplasty and lung transplantation.
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PMID:From acute pulmonary embolism to chronic thromboembolic pulmonary hypertension. 1627 Apr 75

Pulmonary hypertension is a rare disease of the pulmonary vasculature defined as a mean pulmonary artery pressure >25 mmHg at rest or 30 mmHg with exercise. Recent therapies such as epoprostenol, bosentan and sildenafil are directed at the arterial vascular bed, causing vasodilatation and reducing pulmonary vascular resistance. However idiopathic pulmonary artery hypertension (IPAH) occurs predominantly in women, with three times the incidence compared to men and this suggests that sex hormones may be involved in the pathogenesis. 17beta -oestradiol is a pulmonary vasodilator, proposed to act via an endothelium-dependant pathway, involving nitric oxide (NO) and has also been shown to alter responses to hypoxia. Progesterone is also a pulmonary vasodilator but differs from 17beta-oestradiol in having endothelial-dependant and independent processes implicated. Interestingly testosterone has been shown to be a vasodilator in both the coronary and pulmonary circulation with a mechanism of action involving calcium channel blockade of the vascular smooth muscle and without endothelial involvement. In clinical trials testosterone confers symptomatic benefits in patients with coronary heart disease and heart failure, acting as a vasodilator. These observations lend support to the notion that testosterone could be a potential treatment for patients with PAH as vasodilator therapy remains the mainstay of treatment. Other potential beneficial effects of testosterone in the pulmonary circulation include immuno-modulation, altering expression of cytokines and an anti-thrombotic action. In this review the influence of sex hormones on the pulmonary vasculature will be discussed, with specific focus on pulmonary hypertension and the potential treatment of this condition.
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PMID:The influence of sex hormones on pulmonary vascular reactivity: possible vasodilator therapies for the treatment of pulmonary hypertension. 1647 72

17alpha-Hydroxylase deficiency is a rare disease caused by mutation of the CYP17 gene, resulting in hypertension, hypokalemia, female sexual infantilism or male pseudohermaphroditism, low blood cortisol and low plasma renin activity. Herein, we report a female Taiwanese with 17alpha-hydroxylase deficiency. The CYP17 genes of this patient and five members of her family were analyzed by PCR-direct sequencing. One allele of the patient contains a 9-bp (c. 1459-1467 GACTCTTTC: D487, S488, F489) deletion, which is prevalent in Southeast Asia. The other allele has a 6-bp (c. 1480-1485 AAGGTG: K494, V495) deletion and an R496L (c. 1487 G>T) missense mutation, which is a novel mutation. Site-directed mutagenesis, in vitro expression and functional analysis in HEK-293T cells showed that this novel mutation [K494_V495 Del; R496L] resulted in complete loss of 17alpha-hydroxylase and 17,20-lyase activity. Thus this novel mutation in the extreme C-terminus abolishes enzyme activity, and when accompanied by a 9-bp deletion at codons 487-489 in the other allele, results in 17alpha-hydroxylase/17,20-lyase deficiency in this patient.
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PMID:A novel compound heterozygous mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 causes 17alpha-hydroxylase deficiency. 1648 11


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