Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report an adolescent male who presented with progressive dysphagia. Barium examination and upper endoscopy revealed the presence of a smoothly tapered stricture at the lower end of a dilated oesophagus typical of achalasia. Further evaluation by computed tomography (CT), demonstrated the presence of a bulky infiltrating diaphragmatic mass encasing the lower oesophagus. CT guided biopsy of the mass and subsequent post mortem examination revealed the presence of a primary rhabdomyosarcoma of the diaphragm encasing the lower oesophagus. A diagnosis of pseudo-achalasia secondary to a primary diaphragmatic tumour was made.
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PMID:Primary rhabdomyosarcoma of the diaphragm: an unusual cause of adolescent pseudo-achalasia. 815 82

Perineal sagittal approaches (posterior sagittal anorectoplasty and anterior and posterior sagittal transanorectal approaches) allow complete anatomic exposure of the perineum and lower pelvis. Moreover, they reduce the risk of damaging important structures because the incision is led in the midline. Therefore, many surgeons have used these approaches to treat diseases other than anorectal malformations (ARM), including intestinal dysganglionosis, trauma, pseudohermaphroditism, presacral mass, and rectal duplication. The aim of this study was to describe a small series of patients operated on via these approaches at Gaslini Children's Hospital over a 5-year period. We retrospectively evaluated 10 patients consecutively operated on via a perineal sagittal approach, with or without sphincteric structure involvement, between January 1997 and December 2001. All of these patients were without ARM. Indications included retrorectal abscesses (two), iatrogenic anal canal stenosis (one), postinflammatory anal canal stenosis (one), internal anal sphincter neurogenic achalasia (one), female pseudohermaphroditism (one), benign sacrococcygeal teratomas (two), malignant sacrococcygeal teratoma (one), and perineal rhabdomyosarcoma (one). Protective colostomy was used in four patients. The parameters that we analysed included technical details, possible complications, perineal cosmetic appearance, and outcome. No complications were experienced. The postoperative cosmetic perineal appearance was excellent in all patients, and continence, when assessed, was always considered satisfactory. All tumours underwent complete gross resection. However, one patient with malignant sacrococcygeal teratoma died as a result of the malignant process 2 years after surgery. Although our study was carried out on a small series of patients, it confirmed that perineal sagittal approaches can be used not only for ARM but also for other conditions involving perirectal pouches, presacral space, and urogenital structures, as these approaches are safe and provide excellent cosmetic results as well as satisfactory functional outcome. Although tumours can be treated via these approaches, outcome remains related to the nature and malignancy of the disease itself.
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PMID:Feasibility of perineal sagittal approaches in patients without anorectal malformations. 1551 90