نتایج جستجو برای: hyperammonemia
تعداد نتایج: 980 فیلتر نتایج به سال:
CASE A 73 year old female had been diagnosed as primary biliary cirrhosis and Sjögren's syndrome since the age of 50. With persisting hyperammonemia, the patient was admitted on several occasions for the management of hepatic encephalopathy. Computed tomography (CT) scan and magnetic resonance imaging (MRI) of the abdomen showed varices in the splenic hilar region and a splenorenal shunt. A bal...
Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle defect. The clinical presentation in female manifesting carriers varies both in onset and severity. We report on a female with insulin dependent diabetes mellitus and recurrent episodes of hyperammonemia. Since OTC activity measured in a liver biopsy sample was within normal limits, OTC deficiency was initially excluded f...
BACKGROUND Hyperammonemia is known to cause neuronal injury, and can result from valproic acid exposure. Prompt reduction of elevated ammonia levels may prevent permanent neurological injury. We report a case of fatal hyperammonemic brain injury in a woman exposed to valproic acid. CASE A 38-year-old woman with schizoaffective disorder and recent increase in valproic acid dosage presented wit...
Four children in three unrelated families (one consanguineous) presented with lethargy, hyperlactatemia, and hyperammonemia of unexplained origin during the neonatal period and early childhood. We identified and validated three different CA5A alterations, including a homozygous missense mutation (c.697T>C) in two siblings, a homozygous splice site mutation (c.555G>A) leading to skipping of exon...
OBJECTIVE To evaluate the correlation between ammonia levels with the severity of HE in patients coming to the tertiary care hospital with liver cirrhosis and hepatic encephalopathy (HE). STUDY DESIGN Descriptive, analytical study. PLACE AND DURATION OF STUDY Shifa International Hospital, Islamabad, from January 2011 to February 2012. METHODOLOGY A total of 135 patients with liver cirrhos...
Recent studies have indicated that viral infections, aspirin treatment and hyperammonemia are associated with Reye's syndrome. It has also been reported that free fatty acids in serum and total lipids in the liver of Reye's syndrome patients are elevated during illness. The role of the lipid changes in the development of the disorder cannot be optimally studied in human patients, because infect...
Chronic liver failure leads to hyperammonemia, a central component in the pathogenesis of hepatic encephalopathy (HE); however, a correlation between blood ammonia levels and HE severity remains controversial. It is believed oxidative stress plays a role in modulating the effects of hyperammonemia. This study aimed to determine the relationship between chronic hyperammonemia, oxidative stress, ...
Hyperammonemia increases brain glutamine levels, causes astrocytic swelling, and depresses cerebral blood flow (CBF) responsivity to CO2. Methionine sulfoximine (MSO) inhibition of glutamine synthetase activity, known to be enriched in astrocytes, prevents ammonia-induced increases in brain glutamine and water content. We tested the hypothesis that inhibition of glutamine accumulation restores ...
Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood. It manifests with lethargy, brain edema, seizures, coma and possibly death. Electrocardiographic (ECG) abnormalities in patients with type 1 citrullinemia have not been reported so far. A long QT interval may be congenital or may be acquired such as in the use o...
Background Hyperammonemia, a relatively uncommon condition characterized by elevated ammonia levels in the blood, presents with varied physiological etiologies that may send patients to the intensive care unit (ICU) with encephalopathy. An immediate decrease in ammonia levels is necessary to avert neurological damage. However, due to the multifaceted nature of hyperammonemia, a definite determi...
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