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Sida 1 från 22 resultat
Toxicology of a boronated porphyrin in dogs.
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Among the most important characteristics of any therapeutic agent are efficacy and an acceptable toxicity. Prior to human use, toxicity studies are performed in both small and large animal models. Our laboratory has developed a new binary therapy agent, a boronated porphyrin (BOPP), with excellent
Erythropoietic protoporphyria with severe liver dysfunction and acute pancreatitis.
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A case of erythropoietic protoporphyria associated with severe hepatic dysfunction and acute pancreatitis is reported. The patient, a 33-year-old man, was admitted to our hospital complaining of upper abdominal pain, nausea, and vomiting of 3 days' duration. Laboratory tests on admission
Periodic ACTH discharge.
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A 9 1/2-year-old girl is presented who had cyclical attacks of abdominal pain, vomiting, emotional disturbance, and marked weight change for two years. Associated findings were facial plethora, hypertension, transient hyperglycemia and glycosuria, elevated plasma ACTH, cortisol, and urinary 17-OHCS
Porphyria: What Is It and Who Should Be Evaluated?
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The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme. Neurovisceral porphyrias are characterized by acute attacks, in which excessive
Aminolaevulinate dehydratase porphyria in infancy. A clinical and biochemical study.
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Homozygous deficiency of aminolaevulinate dehydratase (porphobilinogen synthase, EC 4.2.1.24) was diagnosed in a small child. The clinical presentation was unique since severe symptoms were already present in the neonatal period. The patient, a boy, now three-years old, had recurrent attacks of
[EEG changes in a patient with acute intermittent porphyria and a Schwartz-Bartter syndrome (SIADH)].
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A 24-year-old female with gastrointestinal disturbances, nausea and vomiting, had a convulsion with loss of urine and bitten lips on the 5th day of hospitalization. A significant decrease of sodium and potassium levels and lowered osmolality of the serum as well as urinary hyperosmolality permitted
Neuropathic pain in a patient with porphyria. Case report.
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OBJECTIVE
Porphyrias represent a group of inherited or acquired disorders that involve enzymes that participate in heme synthesis. Acute manifestations affect the nervous system resulting in abdominal pain, vomiting, acute neuropathy, seizures, and mental disorders. The physiopathogeny results from
Management of the acute porphyrias.
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Three hepatic porphyrias--acute intermittent porphyria, hereditary coproporphyria and variegate porphyria--are characterized by episodic acute attacks that consist of various neuro-psychiatric symptoms and signs, such as abdominal pain, vomiting, constipation, hypertension and tachycardia associated
[Acute intermittent porphyria and inappropriate ADH syndrome].
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A 44-year-old woman complained of abdominal pain of 4 days' duration accompanied by vomiting and painful urination. The admitting physician noted neurologic signs consistent with axonal polyneuropathy and hyponatremia. In the absence of other explanations for the syndrome, SIADH was diagnosed.
[Acute porphyrias in differential diagnosis].
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The characteristic symptoms for acute porphyrias are caused by the inherited decreased activity of the enzymes of the heme biosynthesis pathway. Usually there is an exogenous or endogenous factor inhibiting the heme biosynthesis or increasing the consumption of heme produced in already decreased
A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp).
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A 21-year-old female had recurrent presentations to the emergency department with myalgia, vomiting, abdominal pain and subsequently developed generalized seizures. She was volume depleted with a plasma sodium of 125 mmol/L (reference interval: 135-145) and she had fluctuating hypertension. Acute
Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome and lateralized periodic discharges plus fast activity on EEG.
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We report on a 20-year-old patient with a 6-month history of recurrent abdominal pain and a 3-day history of vomiting, hypertension, seizures, and encephalopathy. The brain MRI showed posterior reversible encephalopathy syndrome, and continuous EEG (cEEG) monitoring showed lateralized periodic
[Lead poisoning revealed by severe encephalopathy : pica does exist in France (author's transl)].
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Subacute lead encephalopathy due a chronic poisoning was present in a 6 year-old child. Neurologic features (coma, seizures, CSF abnormalities) began after 2 weeks of vomiting, abdominal pain and constipation. Diagnosis was confirmed by studies of porphyrin metabolism. Lead poisoning following pica
Posterior reversible encephalopathy syndrome in acute intermittent porphyria.
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BACKGROUND
Acute intermittent porphyria is an inherited disease that is rarely diagnosed in prepubertal children. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures,
Hereditary coproporphyria. Demonstration of the abnormalities in haem biosynthesis in peripheral blood.
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Hereditary coproporphyria is biochemically distinct from the other porphyrias and is characterized by excessive excretion of coproporphyrin in faeces and usually in urine. The laboratory findings in 28 patients with this disease are presented and the clinical details of eight patients who have been
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