porphyrias/diarrhea

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Endosonography-guided celiac plexus neurolysis in the treatment of pain secondary to acute intermittent porphyria.

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Acute intermittent porphyria is a metabolic error transmitted as an autosomal dominant disorder with incomplete penetrance. Its clinical picture includes intermittent abdominal pain, nausea, vomiting, and diarrhea, with or without neurological changes. We report the case of a young woman whose pain

[Autonomic dysfunctions in acute intermittent porphyria].

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A young woman with acute intermittent porphyria is described. She was admitted in a prolonged attack and had developed a flaccid quadriplegia. During the course she showed various manifestations of the autonomic nervous system, including pupils, gastrointestinal tract, cardiovascular system and

Acute porphyria in a patient with Arnold Chiari malformation.

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BACKGROUND Acute porphyria and Arnold Chiari malformation are both uncommon genetic disorders without known association. The insidious onset, non-specific clinical manifestations, and precipitating factors often cause diagnosis of acute porphyria to be missed, particularly in patients with

Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria.

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Induction of delta aminolevulinic acid synthase 1 ( ALAS1) gene expression and accumulation of neurotoxic intermediates result in neurovisceral attacks and disease manifestations in patients with acute intermittent porphyria, a rare inherited disease of heme biosynthesis. Givosiran is

Antimalarials.

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The antimalarials, chloroquine, hydroxychloroquine, and quinacrine, are used primarily for malaria; but they can be beneficial for cutaneous lupus erythematosus (LE), polymorphous light eruption, solar urticaria, and porphyria cutanea tarda. Antimalarials bind to deoxyribonucleic acid (DNA) which

[Synthetic antimalarials].

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The antimalarials, mainly chloroquine and hydroxychloroquine, derive from the quinoleine core of quinine. Their initial therapeutic indication was the treatment of malaria attacks but, because of anti-inflammatory and immuno-modulatory activities, they have been since used to treat many other

Evaluating dysfunction of the autonomic nervous system.

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Simple bedside measurements of blood pressure and systolic pressure response to the Valsalva maneuver will confirm a clinical impression of orthostatic hypotension. Careful questioning of the patient usually elicits other symptoms of autonomic nervous system dysfunction, such as impotence, urinary

Intrahepatic Cholangiocarcinoma Associated with High Procalcitonin, Hypercalcemia, Polycythemia and Leukocytosis.

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Intrahepatic cholangiocarcinomas or bile duct cancers comprise approximately 10-20% of all cholangiocarcinomas and may present with right upper quadrant pain, weight loss, liver enzyme abnormalities or they may be completely asymptomatic and be picked incidentally on routine abdominal imaging.

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