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)

Juvenile dermatomyositis (JDMS) is an inflammatory myopathy with various cutaneous manifestations, usually affecting children between 2 and 15 years of age. We describe a 9-year-old female diagnosed with Juvenile dermatomyositis presenting with generalized erythroderma, Gottron papules, inflammatory myopathy associated with systemic hypertension confirmed on histopathogical examination of skin and muscle biopsy. Since erythroderma, though rare, is an early manifestation of dermatomyositis (adult onset), presence in a pediatric case should prompt early investigations and effective management by a multispeciality team.
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PMID:Erythrodermic juvenile dermatomyositis. 1941 88

Calcitonin gene related peptide (CGRP) is a vasodilator; its plasma levels are altered in several human diseases, including migraine, hypertension and diabetes. CGRP is locally released by motor neurons, and is overexpressed in response to surgical or pharmacological blockage of neuromuscular transmission. Additionally to a brief discussion with regard to the clinical relevance of CGRP, this review focuses on the effects of CGRP on skeletal muscle excitation-contraction (EC) coupling, as well as the corresponding pathophysiological consequences. EC coupling involves activation of 2 different types of calcium channels: dihydropyridine receptors (DHPRs) located at the sarcolemma, and ryanodine receptors (RyR1s) located at the sarcoplasmic reticulum (SR). In response to electrical depolarization, DHPRs activate nearby and physically bound RyR1s, allowing Ca(2+) from the SR to move into the cytosol (termed voltage-gated Ca(2+) release, or VGCR). We recently found that CGRP stimulates VGCR by 350 % in as short as 1h. This effect, which lasts for at least 48 h, is due to activation of the CGRP receptor, and requires activation of the cAMP/PKA signaling pathway. CGRP also increases the amplitude of caffeine-induced Ca(2+) release (400 %); suggesting increased SR Ca(2+) content underlies stimulation of VGCR. Interestingly, in the long-term CGRP also increases the density of sarcolemmal DHPRs (up to 30%, within 24-48 h). We propose that these CGRP effects may contribute to prevent and/or restore symptoms in central core disease (CCD); a congenital myopathy that is linked to mutations in the gene encoding RyR1.
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PMID:CGRP, a vasodilator neuropeptide that stimulates neuromuscular transmission and EC coupling. 1948 22

Transient receptor potential (TRP) proteins constitute a large non-voltage-gated cation channel superfamily, activated polymodally by various physicochemical stimuli, and are implicated in a variety of cellular functions. Known activators for TRP include not only chemical stimuli such as receptor stimulation, increased acidity and pungent/cooling agents, but temperature change and various forms of mechanical stimuli such as osmotic stress, membrane stretch, and shear force. Recent investigations have revealed that at least ten mammalian TRPs exhibit mechanosensitivity (TRPC1, 5, 6; TRPV1, 2, 4; TRPM3, 7; TRPA1; TRPP2), but the mechanisms underlying it appear considerably divergent and complex. The proposed mechanisms are associated with lipid bilayer mechanics, specialized force-transducing structures, biochemical reactions, membrane trafficking and transcriptional regulation. Many of mechanosensitive (MS)-TRP channel likely undergo multiple regulations via these mechanisms. In the cardiovascular system in which hemodynamic forces constantly operate, the impact of mechanical stress may be particularly significant. Extensive morphological and functional studies have indicated that several MS-TRP channels are expressed in cardiac muscle, vascular smooth muscle, endothelium and vasosensory neurons, each differentially contributing to cardiovascular (CV) functions. To further complexity, the recent evidence suggests that mechanical stress may synergize with neurohormonal mechanisms thereby amplifying otherwise marginal responses. Furthermore, the currently available data suggest that MS-TRP channels may be involved in CV pathophysiology such as cardiac arrhythmia, cardiac hypertrophy/myopathy, hypertension and aneurysms. This review will overview currently known mechanisms for mechanical activation/modulation of TRPs and possible connections of MS-TRP channels to CV disorders.
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PMID:Mechanosensitive TRP channels in cardiovascular pathophysiology. 1950 17

The deficiency of 17 alpha-hydroxylase/17,20-lyase causes a rare autosomal recessive disorder presenting with congenital adrenal insufficiency (CAH) and sexual infantilism. Both 17 alpha-hydroxylase and 17,20-lyase reactions are catalyzed by a single polypeptide, cytochrome P450c17 (CYP17), which is encoded by the CYP17A1 gene. We describe the clinical, hormonal, and molecular findings of a 33-yr-old patient presenting with primary amenorrhea, late onset hypertension, and hypokalemic myopathy. The molecular analysis of CYP17A1 revealed a novel homozygous missense mutation resulting in the substitution of arginine to lysine at the amino acid position 21 (p.R21L).
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PMID:A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency. 1963 99

Left ventricular hypertrabeculation (LVHT) also known as noncompaction has not been reported in association with hereditary inclusion body myopathy (IBM). In a 62 year old Caucasian male, with a history of muscle stiffness, myalgias, recurrent hyper-creatin-kinase(CK)-aemia, muscle cramps particularly during cold, polyarthralgias, a family history positive for muscle cramping and muscle disease, normal clinical neurologic examination, and myogenic needle EMG, muscle biopsy was indicative of hereditary IBM. Cardiologic investigations revealed arterial hypertension, left anterior hemiblock, slight myocardial thickening, and surprisingly lone LVHT. LVHT was not associated with arrhythmias, systolic dysfunction, or cardioembolic events, No neurological or cardiac therapy was necessary. During a follow-up of 18 months neither the neurological nor the cardiologic abnormalities progressed. LVHT may also occur in patients with IBM. Patients with hereditary IBM should be investigated for cardiac involvement, which may manifest not only as myocardial damage but also as impulse propagation abnormalities.
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PMID:Left ventricular hypertrabeculation/noncompaction in hereditary inclusion body myopathy. 1990 Jul 28

Although neuromuscular adverse effects represent significant clinical manifestations of hypervitaminosis A syndrome, surprisingly little attention has been paid to the potential neuromuscular toxicity of vitamin A derivatives (retinoids). Since isotretinoin and acitretin are currently the two most commonly used oral retinoids in systemic dermatotherapy, this review focuses exclusively on their neuromuscular adverse effects and proposes a neuromuscular algorithm for appropriate monitoring of patients treated with these two compounds. The most frequent CNS adverse effect associated with oral isotretinoin is headache, either as an independent adverse effect or as part of benign intracranial hypertension, which is additionally characterized by nausea and visual changes. Isolated cases of stiff-person-like syndrome, epileptic seizures and generalized muscle stiffness syndrome, possibly or probably related to oral treatment with isotretinoin, have also been reported. In addition, oral isotretinoin has reportedly been associated with muscular adverse effects that most frequently manifest as myalgia and stiffness and, in rare cases, as true myopathy or rhabdomyolysis. Creatine phosphokinase, a specific marker of muscle destruction, has been found to be elevated, occasionally by up to 100 times the normal value (with or without muscular symptoms and signs), in a variable percentage of patients receiving isotretinoin treatment and particularly in those undergoing vigorous physical exercise. Oral acitretin has been found to cause peripheral nerve dysfunction, particularly of sensory fibres, which in rare cases leads to clinically evident sensory disturbances. Less clear is the causal relationship between acitretin and benign intracranial hypertension or myopathy, whereas an isolated case of cranial nerve IV (oculomotor) palsy and a further case of thrombotic stroke during treatment with oral acitretin have been reported. Systemic diseases with involvement of nervous and/or muscle tissue and neuromuscular disorders should be regarded as exclusion criteria for initiation of oral retinoid therapy. Additionally, intense physical exercise and concurrent treatment with neurotoxic or myotoxic drugs should be avoided during treatment with oral retinoids. In order to minimize the potential risk of neuromuscular adverse effects, a neuromuscular algorithm is suggested that may be useful for monitoring patients taking oral retinoids.
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PMID:Neuromuscular adverse effects associated with systemic retinoid dermatotherapy: monitoring and treatment algorithm for clinicians. 2000 Aug 64

Despite its low frequency, endogenous Cushing's syndrome is not an exceptional clinical entity. A growing number of cases are currently derived to specialized centers suggesting an increasing knowledge of the clinical features of hypercortisolism by specialists of diverse branches of clinical medicine. Clinical signs derive from an exaggeration of the physiological actions of cortisol inducing protein breakdown, hyperglycemia, fat mobilization, dyslipidemia, hydrosaline retention, immunosuppression and increased susceptibility to infection. Despite its low specificity, symptoms such as unexplained development of central obesity, mood changes, fatigue, weakness, myopathy, easy bruisability, red striae, arterial hypertension, diabetes and hyperlipidemia, are suggestive of the diagnosis. From an epidemiological point of view, Cushing's syndrome is to be suspected and consequently searched for among patients with uncontrolled high blood pressure or diabetes mellitus, metabolic syndrome, polycystic ovarian syndrome, osteoporosis, depression or adrenal incidentaloma. True Cushing's syndrome has to be differentiated from pseudo syndromes. Most sensitive physical signs for discriminating Cushing's syndrome from pseudo-Cushing states are the presence of supraclavicular fat pads, myopathy, thin skin and easy bruising. The recognition of the clinical manifestations of Cushing's syndrome and of the sub-populations at risk of contracting the disease should be improved through medical education at the medical school and at postgraduate levels. Clinical detection of Cushing's syndrome must be performed mainly by non-endocrinologists, yet its etiological diagnosis and therapeutic management is to be carried out in highly experienced and specialized centers, to ensure the best results in the treatment of this really challenging endocrine disturbance.
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PMID:In what clinical settings should Cushing's syndrome be suspected? 2005 13

Clinical sequelae of hypertension include heart failure, arrhythmias, and ischemic events, especially myocardial infarction and stroke. Recognizing the hypertensive heart has diagnostic as well as prognostic implications. Current imaging techniques offer noninvasive approaches to detecting myocardial fibrosis, ischemia, hypertrophy, and disordered metabolism that form the substrate for hypertensive heart disease. In addition, recognition of aortopathy and atrial myopathy as contributors to myocardial disease warrant incorporation of aortic and atrial functional measurements into a comprehensive understanding of the hypertensive heart.
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PMID:The hypertensive heart. An integrated understanding informed by imaging. 2011 76

Ephedra is an amphetamine-like compound with a potent sympathomimetic effect. Ephedrine, its active component, is widely used for weight loss, to enhance athletic performance or as component of some drugs. Its cardiovascular effects include tachycardia, increased inotropy, arterial vasoconstriction and hypertension, and these are the effects for which it is used therapeutically. However, it can also cause adverse effects, such as neuropathy, myopathy, psychosis, addiction, stroke, insomnia, myocarditis, arrhythmias, myocardial infarction or sudden death. We present the case of a patient, with pre-existing psychiatric conditions, who developed congestive heart failure and pulmonary oedema in the context of severe biventricular dysfunction and myocardial necrosis secondary to longstanding ephedrine abuse. Secondary causes of dilated myocardiopathy such as alcohol abuse, autoimmunity, hemochromatosis, thyroid alterations, viral or bacterial myocarditis and coronary heart disease, were ruled out. Five years after total cessation of use of the drug containing ephedrine, the patient is symptom-free, with partial recovery of left ventricular ejection fraction.
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PMID:[Myocardial necrosis and severe biventricular dysfunction in the context of chronic ephedrine abuse]. 2030 Jul 11

In a 77-year-old man with a history of arterial hypertension, coronary heart disease, dilative cardiomyopathy, mitral and tricuspid insufficiency, arteriovenous block III, implantation of a pacemaker, atrial fibrillation, and heart failure, left ventricular hypertrabeculation (LVHT) was detected on transthoracic echocardiography during hospitalization for worsening heart failure. Revision of previous echocardiography did not show LVHT in any of the previous investigations why LVHT was interpreted as acquired. The additional presentation with bilateral ptosis, madarosis (absent eyelashes), bilateral hypoacusis, sore neck muscles, absent tendon reflexes, weakness for foot extension, ataxic stance, and recurrently elevated creatine kinase with normal troponin-T suggested a metabolic myopathy. Autopsy after death resulting from intractable heart failure, 17 months later, confirmed severe coronary heart disease and LVHT in the apex. The case confirms that LVHT may be acquired in single cases with neuromuscular disease and may represent an adaptive mechanism of an impaired myocardium.
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PMID:Acquired noncompaction associated with coronary heart disease and myopathy. 2045 46


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