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

A case of secondary achalasia due to renal cell carcinoma is presented. The patient presented with typical clinical, radiologic, and manometric features of achalasia, and was found to have a renal cell carcinoma with metastases to lymph nodes in the region of the cardioesophageal junction. Direct esophageal involvement could not be demonstrated, however. Complete symptomatic remission was obtained with a single hydrostatic balloon dilatation of the cardioesophageal junction and was maintained until the patient's death 7 months later, perhaps as a result of regression of paraesophageal nodal metastases following radiotherapy, immunotherapy, and chemotherapy.
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PMID:Achalasia of the esophagus in association with renal cell carcinoma. 196 28

Type 1 antineuronal nuclear autoantibody (ANNA-1, also known as "anti-Hu") is a marker of neurologic autoimmunity that is highly associated with small-cell lung carcinoma (SCLC). To determine the spectrum of symptoms and signs as well as the frequency of cancer in adult patients who are seropositive for ANNA-1, we reviewed 162 sequential patients (67% female) identified as ANNA-1-positive in a comprehensive immunofluorescence screening test. In 21% of these patients, the antibody test requested by the physician was not ANNA-1. By the end of the follow-up period, cancer had been found in 142 patients (88%). Ten of these lacked evidence of SCLC (4 had prostate carcinoma, 3 breast carcinoma, 1 both prostate carcinoma and melanoma, 1 lymphoma, and 1 squamous-cell lung carcinoma). Of the 132 patients (81%) with proven SCLC, 17 had one or more coexisting malignant neoplasms (6 had renal carcinoma, 4 another lung primary carcinoma, 3 prostate carcinoma, 3 breast carcinoma, and 4 assorted neoplasms). The diagnosis of SCLC in 128 patients (97%) followed the onset of paraneoplastic symptoms. SCLC was identified in 10 patients by chest MRI after an equivocal chest radiograph or CT; in 28 by bronchoscopy, mediastinoscopy, or thoracotomy; and in 7 at autopsy. Neurologic signs in decreasing frequency were neuropathy (sensory > mixed somatic > autonomic > cranial [especially cranial nerve VIII] > motor), cerebellar ataxia, limbic encephalitis, polyradiculopathy, associated Lambert-Eaton myasthenic syndrome, myopathy, myelopathy, opsoclonus/myoclonus, motor neuronopathy, brachial plexopathy, and aphasia. Nineteen patients had a solely gastrointestinal initial presentation, including gastroparesis, pseudo-obstruction, esophageal achalasia, or other dysmotility. We conclude that seropositivity for ANNA-1 can expedite the diagnosis and treatment of otherwise occult cancer in patients, especially tobacco abusers, with varied neurologic and gastroenterologic presentations. The search for SCLC should not end on discovering a different neoplasm.
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PMID:Paraneoplastic and oncologic profiles of patients seropositive for type 1 antineuronal nuclear autoantibodies. 952 Dec 51

The classic teaching in performance and interpretation of diagnostic studies is that "children are not small adults." The purpose of this article is to show a spectrum of "adult" disease entities that can occur, but are not usually considered in the pediatric population: cricopharyngeal achalasia, Schatzki's ring, achalasia, Helicobacter pylori, pancreatic carcinoma, adenocarcinoma of the colon, nasopharyngeal carcinoma, thyroid carcinoma, malignant melanoma, hydatidiform mole, renal cell carcinoma, leiomyosarcoma of the ovary and sarcoidosis. Radiologists interpreting pediatric imaging should recognize these entities and perform an appropriate diagnostic workup.
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PMID:Adult diseases in children. 1019 1