Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A prospective study was conducted on 17 cases of acute pancreatitis; encephalopathy was discovered in six patients (35%). The following parameters were studied: the usual ones in pancreatitis conditions (amylasemia, lipasemia, amylasuria, ions, glucose, pO2, pCO2, pH, etc.), and electroencephalographic changes and determinations in CSF of cells, proteins, lipase, amylase, lipides and cholesterol. A direct relationship was found to exist between the pancreatic encephalopahy condition and an increase in CSF-lipase. The electroencephalographic changes were nonspecific. The encephalopathy did not affect the course of the pancreatitis condition, and showed no relationship to type of treatment involved. The severity of the pancreatitis was not related to the presence or absence of encephalopathy.
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PMID:Pancreatic encephalopathy. 45 37

High levels of the serum free fatty acids (FFA) are found in Reye's syndrome (RS). While this is attributed to enhanced adipose tissue lipolysis, the possibility that intravascular lipolysis could augment this process was investigated by measuring lipase activity in sera from RS and other subjects. Ordinarily, lipolytic activity is not detectable in serum from unheparinized subjects. Significant lipolytic activities ranging from 1-3 mumol/ml serum per hour were detected in sera from 5 of the 7 RS patients studied. Similar activities were also found in sera from two other subjects one of whom was a long-term survivor of RS and the other who had recurrent bouts of biliary obstruction and encephalopathy. Lipase activity was negligible in the serum from 2 other RS patients, 4 other long-term survivors of RS, 2 siblings, one RS parent and in 20 disease controls including patients with influenza, diabetic ketoacidosis and cerebral edema, meningitis and febrile infections with diarrhea and vomiting. None of these individuals had received heparin. An inverse relationship was found between LPL and hepatic lipase (HL) activities. Glucose levels tended to correlate directly with LPL and inversely with HL activity. The basis for the presence of LPL activity in RS sera is not known but the presence of serum lipase activity in unheparinized patients supports the notion that the TG in the circulating lipoprotein particles probably also serve as another source of FFA in the sera of RS patients.
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PMID:Serum lipolytic activity in Reye's syndrome. 259 64

We report the first case to our knowledge of chronic pancreatitis associated with mitochondrial encephalopathy with the A8344G mitochondrial DNA (mtDNA) mutation. This 10-year-old-girl had suffered from recurrent abdominal pain with elevated serum amylase and lipase since the age of 6, and easy fatigability, tremor and astatic seizures since the age of 8. A biopsy of quadriceps muscle revealed ragged-red-fibers and cytochrome c oxidase deficiency. Analysis of mtDNA in peripheral blood identified an A8344G mutation in the mitochondrial tRNA(Lys) gene. Taken together with physical signs of myoclonic seizures and cerebellar dysfunction, we diagnosed her as myoclonic epilepsy with ragged-red fibers associated with chronic pancreatitis. Although no association between mitochondrial disease and pancreatitis has yet been established, this case suggests it is necessary to consider the participation of mitochondrial abnormality in the pathogenesis of recurrent pancreatitis.
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PMID:A case of MERRF associated with chronic pancreatitis. 1129 46

Acute intermittent porphyria (AIP) is an inherited metabolic disease that can affect the autonomic, peripheral and central nervous systems. Pancreatic diseases assocated with AIP is rarely reported. We report here a 60-year-old non-alcoholic male who had typical manifestations of AIP, including abdominal pain, constipation, tachycardia, hypertension, mental disturbances, psychiatric manifestations, seizures, peripheral neuropathy, and excessive excretion of porphyrin precursors in urine. Increases of serum amylase and lipase, as well as mild pancreatic edema on ultrasonography, were noted during the acute attack of AIP, suggesting concomitant acute pancreatitis. In this patient, brain magnetic resonance imaging revealed reversible multifocal cerebral lesions resembling a posterior reversible encephalopathy syndrome (PRES) during the acute attack of AIP. Because the clinical manifestations of acute pancreatitis could be present with an acute attack of AIP, early confirmation of diagnosis is mandatory to effectively manage the attack and avoid inappropriate treatment.
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PMID:Acute intermittent porphyria presenting as acute pancreatitis and posterior reversible encephalopathy syndrome. 1897 24

Severe acute pancreatitis (SAP) in foals is rare and treatment has not been documented. This paper describes the clinical, haematological and ultrasonographic findings as well as attempted treatment of SAP in two 5-day-old Appaloosa fillies. Clinical signs, including colic, diarrhoea and coma, may be mistaken for sepsis or neonatal encephalopathy. Hyperlipaemic serum and peritoneal fluid, and elevated serum and peritoneal fluid amylase and lipase activities aided the diagnosis. Severe acute pancreatitis should be included as a differential in an acutely ill foal with diarrhoea, colic, cerebral cortica dysfunction and hyperlipaemia.
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PMID:Acute pancreatitis in two five-day-old Appaloosa foals. 2259 35

Valproic acid (VPA) is still an important antiepileptic drug, with the broadest spectrum used in all types of seizures and syndromes. It has serious adverse effects such as hepatotoxicity, hyperammonemic encephalopathy, coagulation disorders, and pancreatitis. The incidence of VPA-associated pancreatitis has been estimated to be 1:40,000. We present a 6-year-old boy who developed acute pancreatitis (AP) and multiple-organ failure after 3 months of VPA therapy. The patient's laboratory values showed that his kidney and hepatic function had impaired and thrombocytopenia, and coagulopathy had developed. The patient's abdominal tomography showed a suspected appearance, which was consistent with pancreatitis. Because amylase and lipase levels were found to be high, AP was considered. The patient improved after cessation of VPA treatment. Ten days later, the patient recovered both clinically and laboratorial. Consequently, the patient was discharged with cure. In conclusion, AP is a rare, severe adverse reaction to VPA treatment. If a child, who is receiving VPA, develops abdominal pain and vomits, VPA-associated pancreatitis must be considered.
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PMID:Valproic acid-induced acute pancreatitis and multiorgan failure in a child. 2364 Jan 49

Pleurocybella porrigens is a mushroom-forming fungus, which had been consumed as a traditional food in Japan. However, in 2004, 55 people got poisoned by eating the mushroom and 17 people among them died of acute encephalopathy. We have already reported the purification, characterization, and cDNA cloning of a lectin from the mushroom (PPL) which might have caused the poisoning. Here, we report the heterologous expression of recombinant PPL by basidiomycete Phanerochaete sordida YK-624. The glyceraldehyde 3-phosphate dehydrogenase gene promoter was used to drive the expression of the PPL gene (ppl) in P. sordida YK-624. Furthermore, the signal peptide of lignin peroxidase which is an extracellular protein was used to secrete rPPL into extracellular region. Fifteen regenerated clones were cultured on Kirk HNHC broth, and the presence of lectin activity in the culture broth was checked by agglutination assays. The results indicated that the culture broth of rPPL-6 clone showed the strongest hemagglutination activity, and it was therefore used for subsequent analysis. The heterologous expression of rPPL by P. sordida YK-624 was confirmed by SDS-PAGE, lectin activity by the hemagglutination assay, and mass of rPPL by MALDI-TOF respectively, indicating that the extracellular secretion of rPPL as active form was successful.
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PMID:Heterologous expression of a lectin from Pleurocybella porrigens (PPL) in Phanerochaete sordida YK-624. 2463 56

Pancreatic encephalopathy (PE) is a rare complication of acute pancreatitis. Our study reports 2 cases of patients with pancreatic encephalopathy, hospitalized and treated in the Intensive Care Unit of the Military Hospital of Instruction Mohammed V, Rabat. Patient age ranged between 43 and 54 years, our 2 cases involved a woman and a man. The pathophysiologic process of EP is still not well understood, many assumptions have been described in the literature; some authors have suggested that lipase and phospholipase A2 are involved in the pathological process of PE. Other factors including infections, fluid and electrolyte disturbances, hypoxemia and perturbations in blood glucose can be triggers. The diagnosis of pancreatic encephalopathy is easy to establish, clinical symptoms usually include confusion, amazement and psychomotor agitation, sometimes associated with neurological damages such as convulsions, headache, transient hemiparesis, dysarthria, difficulties in verbal expression and amnesia. Paraclinical tests, including brain MRI and electroencephalogram allow a definitive diagnosis. Treatment is primarily symptomatic aiming to fight against factors favoring the onset of neurologic signs using resuscitative measures based on severity of the situation. The prognosis depends on the severity of acute pancreatitis and its complications. In our study data are broadly comparable to those currently published by the majority of authors.
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PMID:[Pancreatic encephalopathy: about 2 cases and review of the literature]. 2829 9

We presently report the case of hantavirus infection in a 45-year-old male who was hospitalized to our clinic of infectious diseases, with fever, myalgia, vomiting, nausea, headache, and abdominal pain. The physical findings included hepatomegaly, splenomegaly, rash, and conjunctival injection. Eight days before the start of complaints, the patient has cut trees in the mountain. An acute renal failure was observed with an oliguria and an increase of serum creatinine and blood urea nitrogen. Urinalysis shows albuminuria and hematuria. Elevations of amylase, lipase, and liver enzymes levels, low serum albumin level, and thrombocytopenia were observed. A positive ELISA test for hantavirus IgM/IgG antibodies confirmed hemorrhagic fever with renal syndrome. On the third day of hospitalization, the patient had seizures. The unenhanced head computed tomography (CT) performed after seizures showed subcortical bilateral hypodensities within frontal, parietal, and occipital regions corresponding to areas of increased signal intensity in magnetic resonance imaging (MRI) associated with cerebral edema in posterior reversible encephalopathy syndrome (PRES). The treatment consisted of supportive therapy. The patient underwent another head MRI with contrast enhancement after 2 months, which resulted normal.
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PMID:Posterior Reversible Encephalopathy Syndrome in a Patient with Hemorrhagic Fever with Renal Syndrome. 3218 Oct 28

The condition 3-methylglutaconic aciduria (3-MGA) with deafness, encephalopathy and Leigh-like (MEGDEL) syndrome, also known as 3-MGA IV, is one of a group of five rare metabolic disorders characterized by mitochondrial dysfunction, resulting in a series of phenotypic abnormalities. It is a rare, recessive inherited disorder with a limited number of cases reported worldwide; hence, it is important to study each case to understand its genetic complexity. An impaired activity of serine active site-containing protein 1 (SERAC1), caused by mutations, leads to defects in phosphatidylglycerol remodelling, which is important for mitochondrial function and intracellular cholesterol trafficking. In the present study, the patients (two male siblings of consanguineous Turkish parents) were analysed, whose multisystem dysfunctions, including an elevated 3-MGA concentration in early age, hearing loss and Leigh-like syndrome as determined by MRI, were consistent with MEGDEL syndrome. A novel mutation in the SERAC1 gene, in the upstream lipase domain, c.1015G>C (p.Gly339Arg) mutation located on exon 10 of the SERAC1, was identified and predicted to cause protein dysfunction. Furthermore, the results pointed towards a possible association between this mutation and the severity of MEGDEL syndrome.
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PMID:A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing. 3234 11


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