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1/5. A novel mutation of WT1 exon 9 in a patient with denys-drash syndrome and pyloric stenosis.

    We report a novel mutation in WT1 exon 9 (1214 A>G) resulting in an amino acid change from H to R at codon 405 in a 46 XY female patient who had congenital hypertrophic pyloric stenosis, pseudohermaphroditism masculinus, renal failure, and wilms tumor, and died at the age of 22 months. The patient demonstrated the difficulty in diagnosing a patient with intersex before conclusive genetic characterization.
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ranking = 1
keywords = stenosis
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2/5. Antral web associated with distal antral hypertrophy and prepyloric stenosis mimicking hypertrophic pyloric stenosis.

    A 3-year-old boy presented with postprandial vomiting and epigastric pain for 3 wk. barium meal study suggested hypertrophic pyloric stenosis. Ultrasound of the stomach after water loading revealed an echogenic antral web with an eccentric aperture and distal antral hypertrophy. Subsequent endoscopy confirmed the ultrasound findings. Web resection and antropyloroplasty resulted in excellent recovery. To our knowledge, the barium meal and ultrasound findings of an antral web-associated distal antral hypertrophy and prepyloric stenosis has not previously been described.
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ranking = 2
keywords = stenosis
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3/5. Hypertrophic pyloric stenosis in twins: same genes or same environments?

    The aetiology of infantile hypertrophic pyloric stenosis (IHPS) remains obscure. Cases in twins, usually monozygotic, have been sporadically reported as evidence for the genetic origin of the disease. We present a case of IHPS in a pair of dizygotic male twins together with a review of the literature, focusing on the question of whether the twin cases actually support a genetic or an acquired nature of IHPS.
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ranking = 1
keywords = stenosis
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4/5. diagnosis and therapy of primary hypertrophic pyloric stenosis in adults: case report and review of literature.

    adult idiopathic hypertrophic pyloric stenosis (AIHPS) is a misleading anatomic and radio-clinical entity of unknown etiology. Only about 200 cases have been reported in the literature. It is a benign disease resulting from hypertrophy of the circular fibers of the pyloric canal. Despite the recent progress in radiography and endoscopy, it is very hard to define hypertrophic stenosis in adults. Differentiation of primary from secondary pyloric stenosis is frequently a task of the pathologist rather than the surgeon. The main therapy is surgical, although endoscopic dilatation has been tried. There remains controversy over the best surgical approach. A case is reported of a 48-year-old male patient with AIHPS who was subjected to distal gastrectomy. This paper discusses the possible causes of the disorder, the recommended diagnostic steps, and the different surgical approaches.
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ranking = 1.4
keywords = stenosis
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5/5. Portal venous gas in hypertrophic pyloric stenosis.

    Portal venous gas associated with hypertrophic pyloric stenosis is a rare finding. We describe an atypical radiologic finding discovered on abdominal ultrasound and computed tomographic scan in an infant with hypertrophic pyloric stenosis. Portal venous gas in the setting of hypertrophic pyloric stenosis constitutes a benign incidental finding for which surgical treatment should not be postponed.
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ranking = 1.4
keywords = stenosis
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