Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004153 (atherosclerosis)
 77,401 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 29-year-old man with Cockayne's syndrome (CS), presenting reversible ischemic neurological deficit is reported. In his past history, hearing disturbance developed at 6 years old and visual disturbance at 12 years old. His parents have consanguinious marriage. He came to our hospital complaining of right-sided hemiparesis and speech disturbance. He was 115.8 cm tall and his weight 20 kg. The characteristic manifestation of CS, i. e., dwarfism, mental retardadation, cachectic feature, retinal atrophy, neural deafness and calcification of bilateral basal ganglia were all noticed. A CT scan on admission revealed marked brain atrophy as well as the intracranial calcifications, while no lesions compatible with his neurological findings were detected. Cerebral ischemic state was mostly suspected. Following up with conservative therapy by the use of fibrinolytic agent, his neurological deteriorations disappeared on the 4th hospital day. Cerebral angiograms showed stenotic lesions of both C1-C2 portion of the left internal carotid artery and the right middle cerebral artery, and the aneurysm in the right internal carotid artery. Such atherosclerotic vascular change as observed in the cerebral angiograms in this case have progressed rapidly for his age. In this case, diabetes mellitus and hyperlipoproteinemia such as increased total cholesterol, increased triglyceride, decreased HDL and increased apoprotein B and C II were complicated for the risk factor of the atherosclerosis. It's controversial that early progress of atherosclerosis is due to ideopathic original feature of CS or to the secondary change from these complications.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Cockayne's syndrome presenting cerebral ischemic attack: case report]. 379 Mar 68

We describe two brothers with sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive deterioration in renal function, resulting in death in the third decade of life. Autopsy showed diffuse atherosclerosis and arteriolosclerosis of the systemic vasculature. There was no evidence of these abnormalities in the patients' 2 sisters or either parent. Mitochondrial enzyme analysis documented partial deficiencies of Complex III and IV of the respiratory chain. This deficiency was expressed in skin fibroblasts, kidney and liver but not in muscle. This suggests that the disease-causing mutation is either in the mitochondrial or nuclear DNA. Various modes of inheritance are considered, including maternal, autosomal recessive, or X-linked recessive. We suggest this is a new genetic syndrome characterized by an underlying metabolic disease and premature atherosclerosis, possibly of mitochondrial origin.
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PMID:Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder in two brothers: a new syndrome? 817 38

Many neurological disorders have been described in combination with sensorineural hearing loss and pigmentary retinopathy. We present the clinicopathological case of such a combination, associated with premature atherosclerosis of large cerebral arteries. In the literature dealing with the combination of deafness and pigmentary retinopathy, none of the many described syndromes was associated with premature atherosclerosis. The mitochondrial myopathy, encephalopathy, lactic acidosis, early atherosclerosis and stroke-like episodes (MELAS) syndrome can include deafness and blindness. In this syndrome small cerebral arteries are affected. In our case we did not find electron microscopic evidence of mitochondrial myopathy. Also the syndrome with encephalopathy, deafness, blindness and ataxia in young women is attributed to microangiopathy with small brain infarcts and retinal infarcts. In contrast, in our case, large cerebral arteries are affected. In the reverse order, none of the conditions with early atherosclerosis has been reported in combination with sensorineural deafness and pigmentary retinopathy. There is some similarity of our case to cases of Usher syndrome, type II. In the Usher syndrome, plasma lipid disturbances have been described and neuroradiological evidence of decreased circulation in the posterior cerebral circulation has been published. We suggest that in cases of congenital or acquired oto-ophthalmo-neurological disease the cerebral circulation and the lipid metabolism should be analyzed.
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PMID:A congenital syndrome of mental deficiency, gait disturbance, sensorineural deafness and pigmentary retinopathy associated with premature atherosclerosis. 852 24

Recent advances in lateral medullary syndrome have focused on otoneuro-ophthalmology and magnetic resonance imaging (MRI). To reevaluate lateral medullary infarcts, 40 non fatal cases (30 men and 10 women, mean age 57.5 years) accounting for 4.5 p. 100 of overall cerebral infarcts were consecutively included in a prospective study using MRI in all cases. Thirty three patients were investigated using transfemoral or magnetic resonance angiography. Besides classical symptomatology, visual disorders were usually noted: diplopia (n = 18), transient visual tilt of the surrounding (n = 4), skew deviation (= 4), esotropia (n = 2) or conjugate gaze deviation (n = 2). The middle part of the medulla was affected in 35 cases. When associated, ipsilateral peripheral facial palsy and/or deafness were linked to the involvement of the pontomedullary junction (n = 3) while ipsilateral hemiparesis (Opalski's syndrome, n = 4) was linked to the involvement of the lower medulla and the cervicomedullary junction. MRI showed an associated cerebellar infarct in 35 p. 100 of cases. Of 33 patients angiographically investigated, 27 (82 p. 100) had stenosis or occlusion of the ipsilateral vertebral artery, usually affecting the intracranial portion, when 3 had isolated posterior inferior cerebellar artery occlusion. Atherosclerosis was recognized as the main cause of lateral medullary infarcts (n = 25). Other miscellaneous etiologies were diagnosed: coagulopathy (n = 2), spontaneous arterial dissection (n = 2), dolichoectatic artery (n = 1), arteriolopathy (n = 1) or cardiogenic embolism (n = 1). At the term of follow-up (mean: 35 +/- 24 months), 33 patients were free of residual handicap, 8 had experienced recurrent vertebrobasilar infarcts, including 3 medullary infarcts (median ipsilateral, n = 1 or lateral contralateral, n = 2), and 3 were died of basilar artery thrombosis complicating extensive atherosclerosis of the intracranial vertebrobasilar system.
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PMID:[Lateral bulbar infarctions. Distribution, etiology and prognosis in 40 cases diagnosed by MRI]. 903 49

Between 25,000 and 75,000 new cases of angina refractory to maximal medical therapy and standard coronary revascularization procedures are diagnosed each year. In addition, heart failure also places an enormous burden on the U.S. health care system, with an estimated economic impact ranging from $20 billion to more than $50 billion per year. The technique of counterpulsation, studied for almost one-half century now, is considered a safe, highly beneficial, low-cost, noninvasive treatment for these angina patients, and now for heart failure patients as well. Recent evidence suggests that enhanced external counterpulsation (EECP) therapy may improve symptoms and decrease long-term morbidity via more than 1 mechanism, including improvement in endothelial function, promotion of collateralization, enhancement of ventricular function, improvement in oxygen consumption (VO2), regression of atherosclerosis, and peripheral training effects similar to exercise. Numerous clinical trials in the last 2 decades have shown EECP therapy to be safe and effective for patients with refractory angina with a clinical response rate averaging 70% to 80%, which is sustained up to 5 years. It is not only safe in patients with coexisting heart failure, but also is shown to improve quality of life and exercise capacity and to improve left ventricular function long-term. Interestingly, EECP therapy has been studied for various potential uses other than heart disease, such as restless leg syndrome, sudden deafness, hepatorenal syndrome, erectile dysfunction, and so on. This review summarizes the current evidence for its use in stable angina and heart failure and its future directions.
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PMID:Enhanced external counterpulsation and future directions: step beyond medical management for patients with angina and heart failure. 1793 50

The correlation of incidence of hearing loss and concomitant pathologies in civil pilots with auditory analyzer sensitivity to aviation noise and length of service was investigated with the use of two-factor variance analysis w/o repetition. As a result of screening, 335 people (group-1) had only trace of audiometric noise impact; 108 people (group-2) displayed a sustained loss of hearing (chronic sensorineural hearing loss). In the aggregate, data of the investigation evidences that incidence of cardiovascular diseases (atherosclerosis of aorta and coronary arteries, atherosclerotic cardiosclerosis) and sensorineural hearing loss depend reliably on both individual sensitivity to noise and length of service. As for other pathologies, none of factorial criteria revealed itself as the categorical cause of a pathology. The significance and unit input of causative factor into health disorders vary as in type of non-auditory pathology, so length of flight service, and suggest linkage with the time of incipient loss of hearing. The flight personnel with low noise sensitivity and sustained deafness were diagnosed for a broader variety of extra-aural pathologies than the group with incipient hearing disorders. Variation analysis w/o repetition is applicable to evaluation of the risks of somatic pathologies in flight personnel.
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PMID:[Analysis of the extra-aural dependence of hearing disorders in civic flight personnel]. 2012 Sep 12

Human cytomegalovirus (HCMV), a double-stranded DNA virus in the herpesvirus family, is a ubiquitous virus that infects greater than 40-60% of the general population and up to 100% within some subpopulations and/or geographic areas (1). HCMV has a complex pathobiology because infection of immunocompetent individuals is rarely associated with severe clinical symptoms and in most cases is simply asymptomatic, whereas HCMV infections can cause a wide range of severe diseases, including mononucleosis, mental retardation, deafness, chorioretinitis, and fatal diseases, such as interstitial pneumonia and disseminated virus infections in immunocom-promised hosts (1). As with other herpesviruses, HCMV is thought to establish latent or persistent infections. Reactivation of this infection is frequently encountered during pregnancy and in organ transplant and acquired immune deficiency syndrome (AIDS) patients (1). In addition, HCMV has been implicated as a co-etiological agent in cervical cancer (2) and has been found associated with a wide range of other tumors (1). More recently, HCMV has also been shown to be epidemiologically linked to restenosis (3-5) and atherosclerosis (5,6). The severity of these HCMV-associated diseases warrants an accurate ability to detect and diagnose persons with HCMV, especially because of the clinical availability of the anti-HCMV agents, ganciclovir and foscarnet, which have been used successfully to treat patients with HCMV viremia.
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PMID:Immunological methods for the detection of human cytomegalovirus. 2134 Sep 49

The Systems Genetics Resource (SGR) (http://systems.genetics.ucla.edu) is a new open-access web application and database that contains genotypes and clinical and intermediate phenotypes from both human and mouse studies. The mouse data include studies using crosses between specific inbred strains and studies using the Hybrid Mouse Diversity Panel. SGR is designed to assist researchers studying genes and pathways contributing to complex disease traits, including obesity, diabetes, atherosclerosis, heart failure, osteoporosis, and lipoprotein metabolism. Over the next few years, we hope to add data relevant to deafness, addiction, hepatic steatosis, toxin responses, and vascular injury. The intermediate phenotypes include expression array data for a variety of tissues and cultured cells, metabolite levels, and protein levels. Pre-computed tables of genetic loci controlling intermediate and clinical phenotypes, as well as phenotype correlations, are accessed via a user-friendly web interface. The web site includes detailed protocols for all of the studies. Data from published studies are freely available; unpublished studies have restricted access during their embargo period.
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PMID:The systems genetics resource: a web application to mine global data for complex disease traits. 2373 Mar 5

Objective:To investigate the clinical characteristics of patients with underlying disease in sudden deafness.Method:One hundred and seventy-three inpatients suffered from sudden deafness were included in this study. We analyzed the underlying disease of these patients retrospectively.Result:The underlying disease of sudden deafness patients mainly include atherosclerosis risk factors (hypertension, diabetes, hyperlipemia, hyperhomocystinemia, hyperuricemia) 79.8%, cervical vertebra disease 26.6%, ear disease 19.1%, thyroid disease 13.9%.Conclusion:The characteristics of underlying disease may plays a crucial role in pathogenesis and treatment in sudden deafness patients.
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PMID:[The analysis of systemic concomitant disease in sudden deafness patients]. 2987 Nov 92