Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 4 1/2 months old female baby was admitted to our hospital after an unexpected heart attack. Birth was in the 37th gestational week after an uneventful pregnancy and delivery by sectio, birth weight 1650 g, Apgar 9/10/10. In the following weeks the baby showed general muscle hypotonia, failure to thrive and sometimes an uncharacteristic heart murmur. Besides a chronic lactic acidemia we found a hypertrophic cardiomyopathy, cataract and small defects of the pigment epithelium of the retina. The CT-scan of the brain showed hypodense areas of both thalami and the mid-brain. Metabolic examination of two muscle specimens showed a deficiency of cytochrome-c-oxidase activity (I: 30, II: 20, normal: 73-284 mU/mg protein). So our patient may be the first case with an established defect in the respiratory chain suffering from cardiomyopathy, cataract and mitochondrial dysfunction. There is also a strong similarity to other encephalomyopathies especially to the Leigh-Syndrome.
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PMID:[Encephalomyelopathy, cardiomyopathy, cataract and changes in the retinal pigment epithelium resulting from a cytochrome c oxidase deficiency]. 284 43

Fifty-eight consecutive patients were investigated for spontaneous chest pain without symptoms of effort angina, previous myocardial infarction or other signs of cardiac disease, to determine the incidence of oesophageal spasm. The character of the chest pain, its context and the results of resting ECGs were analysed. An ECG recorded during chest pain was available in 23 cases and exercise stress testing was performed in 43 cases. Coronary angiography was carried out in all patients. The coronary arteries were normal or showed little change in 44 patients. Further investigations were ordered: oesophageal manometry (42 cases), echocardiography 44 cases) and ergometrine provocation tests (44 cases). The patients were then divided into 4 groups: 23 patients (40 p. 100) with coronary artery disease; either atheroma (14 cases) or spasm (9 cases); 8 patients (13,5 p. 100) with non-coronary cardiac pathology (myocardial hypertrophy or mitral valve prolapse); 15 patients (26 p. 100) with oesophageal spasm alone; 12 patients (20,5 p. 100) with no obvious organic disease. Often simulating spontaneous angina, clinically and electrocardiographically, oesophageal spasm may sometimes be distinguished (6 out of 15 cases) by the finding of painful dysphagia on swallowing ice-cold liquid. The condition is confirmed by oesophageal manometry which shows abnormalities of oesophageal contraction. In addition, 13 out of 15 patients in our series had hypotonia of the gastro-oesophageal sphincter. Dyskinetic phenomena and this hypotonia should be taken into consideration in the treatment of this condition.
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PMID:[Esophageal spasm: a common cause of spontaneous precordial pain]. 643 62

The sleep apnoea/hypopnoea syndrome (SAHS) is characterized by repeated upper airway narrowing or collapse during sleep. The obstruction is caused by the soft palate and/or base of tongue collapsing against the pharyngeal walls because of decreased muscle tone. These episodes are accompanied by hypoxaemia, surges in blood pressure, brief arousal from sleep and pronounced snoring. Individuals with occult disease are at heightened risk of motorway accidents because of excessive sleepiness, sustained hypertension, myocardial infarction, and stroke. The signs and symptoms of SAHS may be recognisable in the dental practice. Common findings in the medical history include daytime sleepiness, snoring, hypertension, and type 2 diabetes mellitus. Common clinical findings include male gender, obesity, increased neck circumference, excessive fat deposition in the palate, tongue (macroglossia) and pharynx, a long soft palate, a small recessive mandible and maxilla, and calcified carotid artery atheromas on panoramic and lateral cephalometric radiographs. Dentists who recognise these signs and symptoms have an opportunity to diagnose patients with occult SAHS. After confirmation of the diagnosis by a physician, dentists can participate in the management of the disorder by fabricating mandibular advancement appliances that enlarge the retroglossal space by anterior displacement of the tongue and performing corrective upper airway surgery that prevents recurrent airway obstruction.
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PMID:Dentistry's role in the diagnosis and co-management of patients with sleep apnoea/hypopnoea syndrome. 1097 58

Twenty-nine patients with acute atherothrombotic ischemic stroke and 36 patients with acute Q-wave myocardial infarction have been studied. Each group has been stratified into 2 subgroups: patients of subgroups A received an ACE inhibitor perindopril in the complex therapy from the 1st day of disease. Patients of subgroups B were not assigned to this drug. Along with routine tests, the level of tumor necrosis factor-alpha and matrix metalloproteinase-9 (MMP-9) measured with ELISA using test-systems (BCM Diagnostics, USA) and reagents (R&D, England) have been determined. The administration of perindopril did not cause side-effects, including arterial hypotonia after the first dosage, in patients in the acute period of atherothrombotic ischemic stroke and myocardial infarction. Perindopril may decrease the activity of MMP-9 in these patients and produces an anticytokine effect. Some similar mechanisms of ischemic lesions of the heart and the brain and a commonness of biochemical "response" to the same medical intervention (the administration of an ACE inhibitor perindopril) in patients of both groups were found. The results support the pathogenetic validity of perindopril therapy in the secondary prevention of ischemic stroke and myocardial infarction.
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PMID:[An effect of perindopril on the level of tumor necrosis factor-alpha and matrix metalloproteinase-9 in peripheral blood in the acute period of atherothrombotic ischemic stroke and myocardial infarction]. 1942 65