Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Methionine-enkephalin (ME-IR) and beta-endorphin (BE-IR) immunoreactive material CSF concentrations have been measured in subjects of different ages affected by lumbar or cervical disk hernia. The two peptides exhibited different age-related trends. ME-IR levels rose significantly with age while no changes were observed in the case of BE-IR.
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PMID:Age-related changes of methionine-enkephalin and beta-endorphin/beta-lipotropin immunoreactivity in human CSF. 297 45

Endorphin levels in human cerebrospinal fluid (CSF) have been determined by using the electrically stimulated mouse vas deferens bioassay. Endorphins were extracted by adsorption to a synthetic resin of Amberlite XAD-2 eluted with methanol, and dried under a nitrogen atmosphere. Three different groups of patients have been studied: a) control subjects without a history of pain (n = 25), b) patients with acute postoperative pain after high abdominal and thoracic surgery (n = 8) and c) patients with chronic pain due to discal hernia (n = 14). The endorphin levels (expressed as equivalents of Met-E) obtained from the control group were 4.36 +/- 0.7 pmol/ml. In the postoperative group an endorphin decrease of 0.42 +/- 0.07 pmol/ml, was found while in the chronic pain group the levels obtained were 1.39 +/- 0.2 pml/ml. Thus a significantly low level of CSF endorphins was observed in both the postoperative and the chronic pain group as compared with the controls (p less than 0.01). These results suggest a correlation between pain levels and endorphin concentration in CSF. However in the acute postoperative pain group other factors such as depletion of endorphins by drugs used for anesthesia or due to surgical stress cannot be excluded.
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PMID:[Measurement of endorphins in human cerebrospinal fluid. Comparative study of various groups of patients]. 715 54

A prospective study was carried out to investigate the outcome of pregnancy in 300 women who had self-administered an overdose of paracetamol, either alone, or as part of a combined preparation. Exposure occurred in all trimesters. The most striking feature of this study is that the majority of the pregnancies had normal outcomes. Over half of the mothers (160 = 53%) required treatment for the overdose, and 49 of these had specific antidotes (33 mothers had acetylcysteine and 16 mothers had methionine). The rest of the mothers were given nonspecific treatments including ipecacuanha (52), gastric lavage (42), and charcoal (16). None of the mothers died. There were 219 liveborn infants with no malformations, 61 of whom had been exposed in the first trimester. Eleven liveborn infants had malformations; none was exposed in the first trimester. On other infant exposed at 18 weeks had a diaphragmatic hernia; this pregnancy was terminated at 22 weeks. In none of these 12 infants can the malformations be directly associated with paracetamol exposure. There were no apparent differences either in the sex ratio or the body weights of term infants. There were seven full-term infants with neonatal problems that seem unrelated to paracetamol exposure. Six premature infants also had neonatal problems, which were more likely to be related to their degree of prematurity rather than paracetamol exposure. There was no obvious relationship between the time of exposure and the time of delivery. The overall conclusion is that paracetamol overdose per se is not an indication for termination of pregnancy.
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PMID:Paracetamol overdose in pregnancy analysis of the outcomes of 300 cases referred to the Teratology Information Service. 913 37

Congenital diaphragmatic hernia (CDH) is a relatively common, life--threatening birth defect. We present a family with recurrent CDH--paraesophageal and central--for whom exome sequencing (ES) revealed a frameshift mutation (c.4969_4970insA, p.Ile1657Asnfs*30) in the fibrillin 1 gene (FBN1) that causes Marfan syndrome. A diagnosis of Marfan syndrome had not been considered previously in this family. However, a review of the literature demonstrated that FBN1 mutations have an unusual pattern of CDH in which paraesophageal hernias are particularly common. Subsequent clinical evaluations revealed evidence for ectopia lentis in affected family members supporting a clinical diagnosis of Marfan syndrome. Since only two other cases of familial CDH have been described in association with FBN1 mutations, we investigated an oligogenic hypothesis by examining ES data for deleterious sequence changes in other CDH-related genes. This search revealed putatively deleterious sequence changes in four other genes that have been shown to cause diaphragm defects in humans and/or mice--FREM1, DES, PAX3 and MET. It is unclear whether these changes, alone or in aggregate, are contributing to the development of CDH in this family. However, their individual contribution is likely to be small compared to that of the frameshift mutation in FBN1. We conclude that ES can be used to identify both major and minor genetic factors that may contribute to CDH. These results also suggest that ES should be considered in the diagnostic evaluation of individuals and families with CDH, particularly when other diagnostic modalities have failed to reveal a molecular etiology.
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PMID:FBN1 contributing to familial congenital diaphragmatic hernia. 2573 69