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Pagina 1 a partire dal 170 risultati
Headache and neuropsychic disorders in the puerperium: a case report with suspected deficiency of urea cycle enzymes.
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An enzymatic abnormality of the urea cycle is a metabolic disorder occasionally seen in adults, but particularly in the puerperium. The main risk is acute hyperammoniemic encephalopathy, leading to psychosis, coma and even death if not diagnosed promptly and treated appropriately. Headache is
[Diagnosis and treatment of urea cycle disorders in adult patients].
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Urea cycle disorders (UCDs) are inborn errors of metabolism in which the clinical picture is mostly due to ammonia intoxication. UCD onset may be observed at any age. Acute decompensations of UCDs include neuro-psychiatric symptoms such as headache, confusion, convulsions, ataxia, agitation or
Intravascular spill of hyperosmolar urea during induced midtrimester abortion.
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Intravascular spill of hypertonic sodium chloride and the resultant serious and occasionally fatal consquences have been reported in association with induced midtrimester abortion. This report details 3 cases of intravascular spill of hyperosmolar urea. Although urea may pose less concern, because
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
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N-acetylglutamate synthase deficiency (NAGSD) is an extremely rare urea cycle disorder (UCD) with few adult cases so far described. Diagnosis of late-onset presentations is difficult and delayed treatment may increase the risk of severe hyperammonemia. We describe a 52-year-old woman with recurrent
Characteristics of NO cycle coupling with urea cycle in non-hyperammonemic carriers of ornithine transcarbamylase deficiency.
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Urea cycle deficient patients with prominent hyperammonemic often exhibit abnormal production of nitric oxide (NO), which reduces vascular tone, along with amino acid abnormalities. However, information related to the metabolic changes in heterozygotes of ornithine transcarbamylase deficiency (OTCD)
Primary Headache and Helicobacter Pylori.
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H. pylori infection has recently been associated with various vascular disorders. The aim of this study was to investigate its role in primary headache, a pathology strictly associated with vascular alterations. A total of 200 subjects affected by primary headache were evaluated. H. pylori infection
[Vomiting associated with weight stagnation and convulsions: urea cycle disorder should be suspected].
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In some inherited metabolic diseases, in particular in urea cycle disorders, which are usually diagnosed in neonatal period or in childhood, vomiting is often the first symptom. We report a case of late revelation of urea cycle disorder in a 13 years old female patient hospitalized for convulsions
[Clinical and laboratory screening studies on urea cycle defects].
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OBJECTIVE
To investigate the incidences of urea cycle defects (UCDs) in the patients with hyperammonemia and study their etiology, clinical and laboratory features.
METHODS
In the past 7 years, 26 cases (10.2%) of UCDs were detected from 254 patients with hyperammonemia. The etiological diagnoses
Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio.
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BACKGROUND
Phenylacetic acid (PAA) is the active moiety in sodium phenylbutyrate (NaPBA) and glycerol phenylbutyrate (GPB, HPN-100). Both are approved for treatment of urea cycle disorders (UCDs) - rare genetic disorders characterized by hyperammonemia. PAA is conjugated with glutamine in the liver
[Therapeutic possibilities in idiopathic headaches. Analysis of 1000 cases (author's transl)].
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According to Pearson's method (correlation coefficient) the group of improved patients is 16.88% of the expected total result (frequency of attacks regressed to 50%, 25% or 0%): for cyproheptadine, pizotifene, methysergide, methergoline, histamine, clonidine, allylpropylmalonyl urea 'p' is less than
Auditory dehydration testing: glycerol versus urea.
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Auditory dehydration testing with oral hyperosmolar substances is commonly used in the evaluation of patients with suspected endolymphatic hydrops. Endolymphatic hydrops is assumed to be temporarily reduced in some cases, resulting in an improvement in hearing. Unfortunately, ingestion of glycerol,
Physiological, hematological and biochemical factors associated with high-altitude headache in young Chinese males following acute exposure at 3700 m.
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BACKGROUND
High-altitude headache (HAH) is the most common sickness occurred in healthy people after rapid ascending to high altitude, and its risk factors were still not well understood. To investigate physiological, hematological and biochemical risk factors associated with high-altitude headache
Childhood headache and H. pylori--a possible association.
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BACKGROUND
The prevalence of Helicobacter pylori is thought to be about 40% in developed countries. However, rates are difficult to determine due to many cases being asymptomatic.
OBJECTIVE
We present a case study in which eradication of H. pylori infection in a child, aged 7 years, was followed
Nitric oxide synthesis in ornithine transcarbamylase deficiency: possible involvement of low no synthesis in clinical manifestations of urea cycle defect.
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Nitric oxide (NO) levels in plasma and urine were determined in 5 girls with ornithine transcarbamylase deficiency (OTCD) of late-onset type, who often developed migraine-like headache or vomiting. The patients were found to have low NO synthesis, suggesting that the low NO synthesis contributes to
Is low blood magnesium level associated with hemodialysis headache?
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OBJECTIVE
The aim of this study was to evaluate the prevalence, demographic, clinical features, and possible risk factors for hemodialysis headache (HDH).
BACKGROUND
HDH has been recognized for many years, but the pathophysiology of this condition is not known. High arterial blood pressure,
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