porphyrias/tūska

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Comparative toxicologic study with polychlorinated biphenyls in chickens with special reference to porphyria, edema formation, liver necrosis, and tissue residues.

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Acute intermittent porphyria, Rasmussen encephalitis, or both?

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A case of a young woman who suffers from refractory epilepsy in the form of Rasmussen encephalitis and acute intermittent porphyria is presented. The patient developed refractory partial seizures with progressive hemispheric atrophy in the first decade. Both her serum and cerebrospinal fluid

delta-Aminolevulinic acid dehydratase deficiency porphyria (ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman.

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delta-Aminolevulinic acid dehydratase deficiency porphyria (ALAD porphyria, ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman is reported. The patient was admitted to our hospital complaining of slight cough with low-grade fever, and treated with

Mechanisms of phototoxicity in porphyria cutanea tarda and erythropoietic protoporphyria.

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The porphyrias are the only group of diseases caused by endogenous phototoxic agents. While patients with erythropoietic protoporphyria and those with porphyria cutanea tarda both have skin lesions on sun-exposed areas, there are differences in their cutaneous manifestations. Based on information

Congenital erythropoietic porphyria (Günther's disease): two cases with very early prenatal manifestation and cystic hygroma.

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Congenital erythropoietic porphyria (CEP) or Günther's disease is the rarest form of the porphyrias. The disease is usually diagnosed at birth or during early infancy, but rarely in utero. We describe here the first two cases of very early prenatal expression of CEP with cystic hygroma diagnosed at

Acute intermittent porphyria presenting as acute pancreatitis and posterior reversible encephalopathy syndrome.

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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

Porphyria: An Uncommon Cause of Posterior Reversible Encephalopathy Syndrome.

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Acute intermittent porphyria (AIP) is rare and the diagnosis is often delayed. It usually presents with abdominal symptoms, behavioural changes, seizures, tachycardia, and hypertension. MRI findings are usually normal or few contrast enhancing lesions may be present. Rarely , reversible vasogenic

Congenital erythropoietic porphyria: prenatal diagnosis and autopsy findings in two sibling fetuses.

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Congenital erythropoietic porphyria is an autosomal recessive disease characterized by a deficiency of uroporphyrinogen III cosynthetase activity, with diffuse tissue accumulation of specific type I porphyrins. The diagnosis of this disease was made in two fetuses, who were siblings, and from a

Posterior Reversible Encephalopathy Syndrome in a Patient with Variegate Porphyria: A Case Report.

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Variegate porphyria (VP) is one of the groups of rare inherited disorders of hemoglobin synthesis called Porphyria. It has two distinct manifestations, that is, those of cutaneous and nervous system. Posterior reversible encephalopathy syndrome (PRES) is a rare complication of porphyria. It occurs

[Porphyria and inappropriate antidiuretic hormone syndrome].

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We report the case of a 37-years-old woman with inappropriate antidiuretic hormone syndrome due to an attack of acute porphyria. The patient was admitted to our hospital for abdominal pain, sleepiness and pink urine. Family and personal history were normal. Seven days before the admission the

Acute porphyria presenting as epilepsia partialis continua.

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OBJECTIVE The porphyrias are a defect in the biosynthesis of heme which can be associated with different neurological symptoms during acute attacks such as peripheral neuropathy, mental disturbance and seizures. So far, there have only been a few case reports of status epilepticus, none of which

Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation.

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The long-term biochemical and clinical effectiveness of allogenic bone marrow transplantation (BMT) was shown in a severely affected, transfusion-dependent 18-month-old female with congenital erythropoietic porphyria (CEP), an autosomal recessive inborn error of heme biosynthesis resulting from

Congenital erythropoietic porphyria: Recent advances.

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Ielogoties Reģistrēties

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder characterized by photosensitivity and by hematologic abnormalities in affected individuals. CEP is caused by mutations in the uroporphyrinogen synthase (UROS) gene. In three reported cases, CEP has been associated with

Imatinib mesylate and dermatology part 2: a review of the cutaneous side effects of imatinib mesylate.

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Cutaneous reactions to imatinib are common and occur in 9.5% to 69% of patients depending on the series reported. Maculopapular eruptions, erythematous eruptions, edema, and periorbital edema are the most common adverse events observed. Imatinib can also induce severe skin eruptions and generalized

A rare cause of fetal ascites: A case report of Günther's disease.

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Despite an arsenal of ever-improving diagnostic tools, determining the precise etiology of fetal ascites is not always possible. We report a case history where moderately-severe fetal ascites was retrospectively determined to be due to Günther's disease (congenital erythropoietic porphyria). The

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