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

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.
 ...
PMID:[Esophageal spasm: a common cause of spontaneous precordial pain]. 643 62

The fact that a connective tissue dysplasia is a component of the Martin-Bell syndrome was a fortuitous discovery. A 26-month-old developmentally delayed boy had many signs of a connective tissue dysplasia for which he was referred to a University center where he was found to be fragile (X)-positive without confirmation of a connective tissue problem. Sensitized by these events and observations, we were able to predict at a glance in an unrelated family the fragile (X)-positive status of 2 subsequently referred brothers with mental retardation and prominent manifestations of connective tissue dysplasia. Thus, the Martin-Bell syndrome is an incompletely recessive, pleiotropic trait involving CNS, testes and connective tissues. The characteristic facial appearance of affected males largely represents interaction of mental retardation, congenital CNS based muscle hypotonia and connective tissue dysplasia. At the 1983 NIH workshop on XLMR there was a general consensus that a connective tissue dysplasia is a component of the Martin-Bell syndrome, a fact since confirmed by others on the basis of objective measurements of finger joint hypermobility and frequent presence of mitral valve prolapse.
 ...
PMID:Discovery of a connective tissue dysplasia in the Martin-Bell syndrome. 671 89

The case of a 23 years old woman, affected by the Cohen syndrome, who underwent general anesthesia for extensive dental surgery, is reported. The Cohen syndrome is an autosomal recessive syndrome that causes mental retardation, obesity, short stature as well as oral, ocular, and limb anomalies. The problems the anesthesiologist could deal with include the capacity of the patient to cooperate; difficult intubation because of maxillary hypoplasia, micrognathia, narrow and high-arched palate, and prominent maxillary central incisors; generalized muscular hypotonia; moderate leukopenia, that could theoretically increase the risk of infection: and, finally, possible associated mitral valve prolapse or hiatus hernia. In the case reported the presence of mitral valve prolapse or hiatus hernia was ruled out echographically. The patient was premedicated with diazepam and atropine i.m.; general anesthesia was carried out by propofol-fentanyl association and myorelaxation was obtained with atracurium. Nasotracheal intubation was performed easily in spite of oral anomalies so that the usefulness of thyromental distance, which was 7 cm long, as a clinical test to evaluate a potentially difficult intubation was confirmed. Noteworthy, the thyromental distance was the only test which was suitable for the uncooperative patient. At the end of surgery muscular tone recovered promptly and the endotracheal tube could be regularly removed. No complication was registered postoperatively.
 ...
PMID:[General anesthesia in Cohen syndrome. Report of a clinical case]. 767 74

Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, micrognathia, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, short stature, and truncal obesity. Some patients have strabismus, myopia, optic atrophy, and total blindness. A small number of cases present with heart defects or mitral valve prolapse. Only approximately 100 cases have been reported in the world literature. The administration of general anesthesia in patients with Cohen syndrome can be a challenge because most of these patients are mentally retarded and uncooperative and have facial malformations that may make intubation difficult. We present our experience with the anesthetic management of a patient with Cohen syndrome.
 ...
PMID:The anesthetic management of a patient with Cohen syndrome. 1533 97

Twelve patients (9 women, 3 men, mean age 26.8 +/- 5.02 years) with spontaneous isolated dissection of posterior cerebral artery (PCA) were studied. Eleven patients (92%) developed ischemic stroke, 1 patient (8%)--transient ischemic attack (TIA). All patients underwent magnetic resonance imaging (MRI) of the head and magnetic resonance angiography (MRA): 9 patients--a follow-up MRA, 3 patients--a single study. Local neurological symptoms (hemianopia, hemianestesia) developed suddenly (75%) during everyday patient's activity (83%) and were combined with headache on the side of dissection in 75% of patients. The main provoked factor was alcohol (67%), 25% had preceding respiratory infection. The initial cerebral angiography carried out in most cases within the first month of stroke demonstrated the occlusion (33%) or stenosis (67%) of PCA. The repeat MRA carried out on 2-3 months or more showed the improvement or normalization of blood flow in PCA (89%). In 1 (11%) patient the occlusive process progressed that correlated with headache increasing. A single MRA carried out in 48 days--6 months (3 patients) found the prolonged irregular stenosis (1), occlusion at P2 segment (1) and normal PCA appearance (1). At the whole, the prolonged irregular stenosis at least in one study, was found in a half of patients. None of patients had atherosclerosis, vasculitis, arterial hypertension or thrombophilia. Clinical manifestations of connective tissue weakness were seen in 67% of patients, hypotonia--in 67%, headache in the past history--in 67% and mitral valve prolapse--in 75%. In conclusion, spontaneous isolated dissection of PCA is one of the causes of ischemic stroke in young adults. The diagnosis is based on characteristic clinical manifestations and follow-up MRA. The development of dissection appears to be connected with arterial wall weakness.
 ...
PMID:[Ischemic stroke due to isolated spontaneous posterior cerebral artery dissection in young adults]. 1989 94