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Acute intermittent porphyria (AIP) is a rare, inherited metabolic disorder of the haem biosynthesis pathway. The diagnosis is well known to cause significant diagnostic challenge due to its broad range of symptoms that may mimic many other conditions. We report a case of AIP that presented with caecal perforation, a clinical scenario that has not previously been reported in the literature.
This article was published in the following journal.
Name: Annals of the Royal College of Surgeons of England
Many colorectal carcinomas will present emergently with issues such as obstruction, perforation, and bleeding. Emergency surgery is associated with poor short- and long-term outcomes. For abnormality ...
Secondary abdominal ectopic pregnancy is rare in clinical practice, but may lead to an increased maternal mortality. We present the case of a patient with an abdominal pregnancy secondary to a uterine...
A 31-year-old woman with systemic lupus erythematosus and lupus nephritis was treated with prednisone and immunosuppressants. After her lupus nephritis symptoms worsened, both high-dose steroid and cy...
The number of total hip arthroplasties is ever increasing. Literature about glove perforation rates in arthroplasties in India is very scarce. The purpose of our study was to determine the incidence o...
Non-traumatic small bowel perforation is rare in adults but carries a high morbidity and mortality. The diagnosis is made on clinical suspicion, and the most common causes in developing countries are ...
To determine the efficacy and tolerability of deferasirox in the treatment of Porphyria Cutanea Tarda. Primary objective - the elimination of all blistering within 6 months of treatment. ...
OBJECTIVES: I. Characterize enzyme defects in patients with known or suspected porphyria and their family members. II. Determine whether selected patients are eligible for other porphyr...
The purpose of this study is to characterize the natural history and clinical management of Acute Hepatic Porphyria (AHP) patients with recurring attacks.
OBJECTIVES: Assess whether chronic administration of gonadotropin-releasing hormone analogues is safe and effective for the prevention of cyclic attacks of acute porphyria in women.
In the medical literature there case reports that Harvoni improves symptoms in patients with PCT. However, this has never been systematically tested. Therefore, the purpose of this study i...
The segment of LARGE INTESTINE between the CECUM and the RECTUM. It includes the ASCENDING COLON; the TRANSVERSE COLON; the DESCENDING COLON; and the SIGMOID COLON.
An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.
An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.
The segment of LARGE INTESTINE between ASCENDING COLON and DESCENDING COLON. It passes from the RIGHT COLIC FLEXURE across the ABDOMEN, then turns sharply at the left colonic flexure into the descending colon.
The segment of LARGE INTESTINE between TRANSVERSE COLON and the SIGMOID COLON.