Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Oculopharyngeal muscular dystrophy is an inherited disorder, usually autosomal dominant, which typically becomes symptomatic during the fifth decade of life with slowly progressive ptosis and dysphagia; childhood onset has not been reported. A 13-year-old female of French-Canadian descent developed nasal speech and strabismus at 5 years of age; there was no family history of neuromuscular disease. Ptosis and mild facial and proximal muscle weakness were present by 9 years of age. Over the next 4 years, the patient developed dysphagia, palatal paralysis, weight loss, decreased ocular motility, scoliosis, shortness of breath, and obstructive apnea. Tracheostomy and gastrostomy were required. Creatine kinase and repetitive facial nerve stimulation were normal. Edrophonium testing was negative and electromyography revealed myopathic motor units in the iliopsoas muscle. A preponderance of type I fibers and scattered atrophic and angulated muscle fibers were present in 3 muscle biopsies. The clinical presentation and findings are consistent with childhood onset oculopharyngeal muscular dystrophy.
 ...
PMID:Childhood onset oculopharyngeal muscular dystrophy. 176 43

Stroke mortality represents the third leading cause of death worldwide, after coronary artery disease and cancer. It has been demonstrated that in Mongolian gerbils, a unilateral hemispheric cerebral infarction can be produced following unilateral occlusion of the carotid artery because of the absence of connecting arteries between the basilar and carotid systems in these animals. The objective of this study was to comprehensively characterize the model of cerebral infarction in gerbil, clinically, biochemically and especially morphologically for prospective use in testing new therapeutic agents. Cerebral infarction was produced by ligation of the left common carotid artery in experimental gerbils. The control animals were sham-operated. One hour after surgery, 0.5 ml of 1% trypan blue was administered intraperitoneally to all animals. Initial clinical evaluations were made 8 h after surgery and every day thereafter for 30 days. On each of days 10 and 30, 4 animals were sacrificed. The degree of cerebral infarction was evaluated on the basis of clinical response, electrolyte and enzyme changes, vascular permeability of blood-brain barrier and morphological alterations. The total post-infarction mortality rate was 50%. The clinical symptoms presented as ipsilateral hemiparesis, ptosis of the eyelid, circling behavior, decreased breathing rate, decreased blood pressure and increased heart rate. Such symptoms developed within 8 h of ligation and persisted to sacrifice at day 30. Creatine kinase increased significantly on the 10th day and remained high to day 30. Increased potassium from the damaged cells and breakdown of the blood-brain barrier were first detected 72 h post-infarction. The morphological data showed evidence of brain cell necrosis, autolysis and phagocytosis 10 and 30 days post-ligation in left hemispheres. Minor intercellular edema and some cell shrinkage was evident in the right brain. Areas of focal necrosis in the vicinity of blood vessels, especially in the left brain suggested a reperfusion injury as a consequence of minimal collateral reflow from the right brain into the left brain microvasculature. Experimental infarction in gerbil recreates the ischemic conditions causing stroke in humans. The animal model may be used for evaluating the efficacy of therapeutic agents that may ameliorate the condition in man.
 ...
PMID:Mongolian gerbil (Meriones unguiculatus) as a model of cerebral infarction for testing new therapeutic agents. 1093 31

Rigid spine syndrome (RSS) is a group of childhood-onset muscle disorders characterized by marked limitation of flexion of the spine. Various cardiac changes have been documented in case reports. This study reports on a cardiac evaluation of nine patients with the "vacuolar variant" of RSS. Noninvasive cardiac evaluation entailed creatine kinase levels, full-inspiration chest roentgenograms, standard 12-lead ECG, and 24-h ambulatory ECG recording, as well as M-mode and two-dimensional echocardiography with Doppler study. Heart auscultation was abnormal in five patients. Creatine kinase MB fraction was normal in all patients. Chest roentgenogram showed scoliosis (five of nine), kyphosis (one of nine), severe anterior-posterior flattening of the chest cavity (two of nine), elevated hemidiaphragm (one of nine), caved-in appearance of upper lobes (two of nine), and symmetry of lung volumes (one of nine). Twelve-lead ECG abnormalities indicated right-sided heart disease (three of nine). Echocardiogram showed mitral valve prolapse (five of nine) with regurgitation (three of five) and evidence of pulmonary hypertension (three of nine). Ambulatory ECG recorded paroxysmal tachyarrhythmias in hypoxic or hypercapnic patients (three of nine). There was no correlation between any cardiac abnormalities and patient weakness. Mitral prolapse/regurgitation may have a developmental association with this congenital myopathy. Findings of cor pulmonale were due to the restrictive chest wall defect and respiratory muscle weakness. Paroxysmal tachyarrhythmias were due to hypoxia or hypercapnia. There was no evidence of a primary cardiomyopathy.
 ...
PMID:Rigid spine syndrome: a noninvasive cardiac evaluation. 1782 62