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

A 14-year-old boy with mitochondrial myopathy is described, and the findings on muscle biopsy shown. He presented with mild weakness, and severe exercise intolerance; examination showed ptosis, external ophthalmoplegia and severe muscle wasting. There was a possible family history of a similar disorder. Metabolic study demonstrated severe lactic acidosis on exercise. Oxygen consumption was measured and found abnormally high at rest and on exercise. Biochemical study of extracted muscle mitochondria showed decreased respiratory rates with NAD-linked substrates. These and other results suggest the site of the defect to be in the electron transport chain. The possible significance of abnormally high oxygen consumption in the presence of such a defect is discussed.
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PMID:Childhood mitochondrial myopathy with ophthalmoplegia. 727 84

The case of a 40-year-old woman with mitral valve prolapse and severe atypical chest pain is presented. The diagnosis was confirmed by phonocardiographic, echocardiographic, and angiocardiographic studies. The electrocardiogram revealed an ischemic pattern of ST-T on the anterior and inferior wall. Coronary angiographic studies showed normal coronary arteries. The patient's long-standing, prolonged, disabling atypical chest pain could not be relieved with medical therapy, despite the administration of beta-adrenergic blocking agents, calcium antagonists, and short-acting nitrites during a 30-month period. Thus, the prolapsed mitral valve was replaced with a Hancock xenograft. After 12 months the patient is totally free of symptoms, without any treatment and with a normal ECG. This excellent surgical result could be explained on the basis of the valvular theory of chest pain in mitral valve prolapse, suggesting that pain is promoted probably by a regional imbalance between oxygen availability and consumption, because of the excessive papillary muscular stretching produced by the prolapse. To our knowledge, this is the first published report of successful surgical treatment of chest pain in mitral valve prolapse.
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PMID:Surgical treatment for chest pain in mitral valve prolapse. 747 28

We questioned whether the side effects outweighed the advantages of priming doses of nondepolarizing neuromuscular relaxants in awake patients. We have assessed lung function and clinical evidence of muscle weakness in 10 elderly patients, eight women and two men, aged 67-78 yr, ASA grade I or II, before and 3 min after a priming dose (0.01 mg/kg) of vecuronium. Forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1), maximum midexpiratory flow rate (MMEF), peak expiratory flow rate (PEFR), inspiratory capacity (IC), functional residual capacity (FRC), expiratory reserve volume (ERV), residual volume (RV), slow vital capacity (SVC), and total lung capacity (TLC) were measured by using a Morgan transfer test machine and oxygen saturation (SpO2) was measured by pulse oximetry. All the patients developed ptosis, six had diplopia and were unable to perform the Valsalva maneuver for 10s, and four were unable to swallow or lift their head for > 4s, demonstrating significant muscle weakness. Significant reductions occurred in FVC, FEV1, FRC, ERV, SVC, and TLC. SpO2 decreased in 8 of 10 patients, and in 4 the decrease exceeded 4%. We conclude that priming with vecuronium 0.01 mg/kg in elderly patients causes significant impairment of lung function and a significant decrease in oxygen saturation.
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PMID:Effect of priming dose of vecuronium on lung function in elderly patients. 790 81

The objectives of this study were to determine if infants delivered with severe acidemia (cord umbilical arterial pH < 7.0) had short-term neurologic effects and whether infants with persistent bradycardia who received cardiopulmonary resuscitation (CPR) in the delivery room would be at greatest risk for subsequently developing neonatal seizures. Forty-seven infants (39 term, 8 preterm) delivered with severe fetal acidemia were studied. The mean (+/- S.D.) for pH, PaCO2, and base deficit for the 47 infants was 6.86 +/- 0.11, 97 +/- 22 mm Hg, and -17 +/- 4, respectively. Labor complications were common and included placental abruption in 8, ruptured uterus in 4, cord prolapse in 3, fetal heart rate decelerations in 12, and other (n = 14). Most infants were delivered via emergency cesarean section (n = 29). Delivery room interventions included oxygen and bag/mask ventilation only (n = 20) and intubation and ventilation (n = 22); 7 of 22 infants received CPR and epinephrine for persistent bradycardia (heart rate < 80 beats/min despite ventilatory support). Five infants required no intervention. Eight infants (17%) had seizures; 6 of these infants received CPR in the delivery room. Short-term outcomes were abnormal in 7 of 8 infants (i.e., death in 5, abnormal neurologic examination at discharge in 2). In 39 infants without seizures, 32 had transient neurologic abnormalities (i.e., irritability, hyperreflexia, proximal hypotonia) which resolved by discharge, and 2 had abnormal and 5 normal examinations.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Severe fetal acidemia: neonatal neurologic features and short-term outcome. 821 39

The case of a 63-year-old woman with mitochondrial myopathy with palpebral ptosis and nighttime nasal home oxygen therapy is reported. The patient successfully underwent outpatient vitrectomy with subconjunctival anesthesia, receiving no premedication or sedation during the operation. Subconjunctival analgesia was provided, with prior instillation of an anesthetic collyrium followed by subconjunctival injection of 1 ml of 0.4% bupivacaine and 2% lidocaine. Analgesia during surgery was satisfactory. We review the possibilities of using this technique in patients at high risk of presenting postoperative complications after general anesthesia, and discuss the possible side effects on musculature when peribulbar or retrobulbar anesthesia is provided.
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PMID:[Subconjunctival anesthesia: an alternative for vitrectomy in mitochondrial myopathy]. 924 45

We present a review of 60 cases of cluster headache. Most patients were males, ranging from 19 to 65 years of age at the time of the first visit. Headaches consisted of short-lasting (from 15 to 210 minutes), intense, unilateral pain attacks, most frequently in the periorbital area, with ipsilateral autonomic signs (rhinorrhea, ptosis, tearing and conjunctival injection). Between attacks, patients were completely free of pain. The attacks occurred in bouts lasting 1 to 6 months, in which patients had daily headaches (one to three times a day). Headaches responded well to oxygen or ergotamine. Prophylactic therapy in most cases consisted of verapamil, also with a good response. We present this review in order to draw attention to this relatively rare form of headache with a specific therapy.
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PMID:[Cluster headache]. 1102 46

The protean manifestations of a novel maternally inherited point mutation of the mitochondrial genome are reported. The proband showed isolated, spastic paraparesis. A brother, who had suffered from a multisystem progressive disorder, ultimately died of cardiomyopathy. Another brother is healthy. The proband's mother showed truncal ataxia, dysarthria, severe hearing loss, mental regression, ptosis, ophthalmoparesis, distal cyclones, and diabetes mellitus. A muscle biopsy performed in the proband failed to show the morphological abnormalities typical of mitochondrial disorders; the activities of respiratory chain complexes were normal. However, complex I and IV activities were low in the muscle homogenate of the affected mother and brother. Sequence analysis of mtDNA showed a heteroplasmic mutation of the tRNA(Ile) gene (G4284A). The mutation load was approximately 55%, 80%, and 90% in the muscle mtDNA of the proband, his mother, and his affected brother, respectively. Mutation was undetected in the healthy brother, as well as in 100 control samples. Several cybrid clones containing homoplasmic mutant mtDNA from the proband showed significant reductions of complex IV activity and maximum oxygen consumption rate, compared with homoplasmic wild-type clones derived from the same subject.
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PMID:Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations. 1178 91

Cluster headache is characterized by recurrent unilateral attacks of headache of great intensity and brief duration (15-180 minutes), accompanied by local signs and symptoms of autonomic dysfunction including conjunctival injection, lacrimation, nasal congestion, rhinnorrhea, forehead and facial sweating, miosis, ptosis or eyelid edema. Attacks occur in so-called cluster periods lasting for weeks or months. About 10% of patients have chronic symptoms with no period of remission. There are only two abortive treatments with proven efficacy: subcutaneous sumatriptan and nasal oxygen inhalation. Prophylactic treatment is often needed to reduce the daily frequency of attacks: verapamil in episodic cluster headache and lithium in chronic cluster headache.
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PMID:[Cluster headache]. 1473 38

Exposure to high oxygen concentration causes direct oxidative cell damage through increased production of reactive oxygen species. In vivo oxygen-induced lung injury is well characterized in rodents and has been used as a valuable model of human respiratory distress syndrome. Hyperoxia-induced lung injury can be considered as a bimodal process resulting (1) from direct oxygen toxicity and (2) from the accumulation of inflammatory mediators within the lungs. Both apoptosis and necrosis have been described in alveolar cells (mainly epithelial and endothelial) during hyperoxia. While the in vitro response to oxygen seems to be cell type-dependent in tissue cultures, it is still unclear which are the death mechanisms and pathways implicated in vivo. Even though it is not yet possible to distinguish unequivocally between apo-ptosis, necrosis, or other intermediate form(s) of cell death, a great variety of strategies has been shown to prevent alveolar damage and to increase animal survival during hyperoxia. In this review, we summarize the different cell death pathways leading to alveolar damage during hyperoxia, with particular attention to the pivotal role of mitochondria. In addition, we discuss the different protective mechanisms potentially interfering with alveolar cell death.
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PMID:Alveolar cell death in hyperoxia-induced lung injury. 1503 61

Acute fetal distress in labour is a condition of progressive fetal asphyxia with hypoxia and acidosis. It is usually diagnosed by finding characteristic features in the fetal heart rate pattern, wherever possible supported by fetal scalp pH measurement. Intrauterine resuscitation consists of applying specific measures with the aim of increasing oxygen delivery to the placenta and umbilical blood flow, in order to reverse hypoxia and acidosis. These measures include initial left lateral recumbent positioning followed by right lateral or knee-elbow if necessary, rapid intravenous infusion of a litre of non-glucose crystalloid, maternal oxygen administration at the highest practical inspired percentage, inhibition of uterine contractions usually with subcutaneous or intravenous terbutaline 250 microg, and intra-amniotic infusion of warmed crystalloid solution. Specific manoeuvres for umbilical cord prolapse are also described. Intrauterine resuscitation may be used as part of the obstetric management of labour, while preparing for caesarean delivery for fetal distress, or at the time of establishment of regional analgesia during labour in the compromised fetus. The principles may also be applied during inter-hospital transfers of sick or labouring parturients.
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PMID:Intrauterine resuscitation: active management of fetal distress. 1532 7


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