No abstract available.
Kidney* ; Neuroectodermal Tumors, Primitive*

Kearns-Sayer syndrome, a rare mitochondrial disorder, is composed of chronic progressive external ophthalmoplegia, atypical retinal pigmentation and complete heart block, and also causes numerous neurologic or endocrinologic symptoms. On muscle biopsy, a "ragged red fiber" was seen with Gomori trichrome stain, On electron microscopy, aggregations of abnormal mitochondria were demonstrated, confirming the diagnosis of mitochondrial myopathy. We report a case of Kearns-Sayer syndrome we have experienced.
Biopsy ; Diagnosis ; Heart Block ; Microscopy, Electron ; Mitochondria ; Mitochondrial Diseases ; Mitochondrial Myopathies ; Ophthalmoplegia, Chronic Progressive External ; Pigmentation ; Retinaldehyde

No abstract available.
Amniotic Fluid* ; Female ; Iron* ; Meconium* ; Staphylococcus aureus* ; Staphylococcus*

No abstract available.
Amniotic Fluid* ; Female ; Staphylococcus aureus* ; Staphylococcus*

Multiple endocrine neoplasia type 1 (MEN1) syndrome is a relatively rare disease, characterized by the occurrence of multiple endocrine tumors in the parathyroid and pituitary glands as well as the pancreas. Here, we report a case of MEN1 with neuroendocrine tumors (NETs) in the stomach, duodenum, and pancreas. A 53-year-old man visited our hospital to manage gastric NET. Five years prior to his visit, he had undergone surgery for incidental meningioma. His brother had pancreatic nodules and a history of surgery for adrenal adenoma. His brother's daughter also had pancreatic nodules, but had not undergone surgery. The lesion was treated by endoscopic submucosal dissection and diagnosed as a grade 1 NET. Another small NET was detected in the second duodenal portion, resected by endoscopic submucosal dissection, which was also diagnosed as a grade 1 NET. During evaluation, three nodules were detected in the pancreas, and no evidence of pituitary, parathyroid tumors, or metastasis was observed. After surgery, the pancreatic lesions were diagnosed as NETs, with the same immunohistochemical patterns as those of the stomach and duodenum. Genetic testing was performed, and a heterozygous mutation was detected in the MEN1 gene, which is located on 11q13.
Adenoma ; Duodenum* ; Endoscopy ; Genetic Testing ; Germ-Line Mutation ; Humans ; INDEL Mutation ; Meningioma ; Middle Aged ; Multiple Endocrine Neoplasia Type 1* ; Neoplasm Metastasis ; Neuroendocrine Tumors* ; Nuclear Family ; Pancreas* ; Pituitary Gland ; Rare Diseases ; Siblings ; Stomach*

Bougie or balloon dilation is a good short-term treatment for caustic esophageal strictures, although recurrence after dilation occurs in approximately 30% of these cases. Therefore, long-term treatment options are required in some cases, and endoscopic incisional therapy has been used for patients with an anastomotic stricture in the gastrointestinal tract. A 58-year-old woman presented with severe swallowing difficulty because of a caustic esophageal stricture, which was caused by accidental exposure to anhydrous acetic acid at infancy. She had undergone several previous bougie and balloon dilations but the stricture did not improve. We performed sequential treatment comprising incision with an insulated-tip knife, balloon dilation, and an oral steroid, which resulted in the patient’s symptoms markedly improving. Thus, we report this case of an intractable caustic esophageal stricture, which was successfully treated using combined endoscopic sequential treatment.
Acetic Acid ; Caustics ; Constriction, Pathologic ; Deglutition ; Deglutition Disorders ; Dilatation ; Esophageal Stenosis* ; Female ; Gastrointestinal Tract ; Humans ; Middle Aged ; Recurrence

No abstract available.
Male ; Penile Erection*

PURPOSE: We compared the outcome of nocturnal penile tumescence and rigidity(NPTR) monitoring by RigiScan(Dacomed Co., USA) with that of more invasive tests on patients with a complaint of erectile dysfunction, and analyzed the diagnostic value of NPTR monitoring according to the causes of erectile dysfunction. MATERIALS AND METHODS: From May 1995 to May 1998, a total of 112 patients with a complaint of erectile dysfunction underwent NPTR monitoring by RigiScan over 3 consecutive nights and had the etiologic diagnosis through multidisciplinary diagnostic tests including duplex penile doppler ultrasonography, dynamic infusion cavernosometry and cavernosography, dorsal nerve somatosensory evoked potential test and bulbocavernous reflex latency test. RESULTS: The rates of psychogenic and organic erectile dysfunction were 44.6% and 55.4%, respectively. The sensitivity of NPTR monitoring in differentiating organic from psychogenic erectile dysfunction was 67.7%. The types of NPTR monitoring were not consistent with the causes of erectile dysfunction. CONCLUSIONS: Although NPTR monitoring by RigiScan has been known as a useful test in differentiating organic from psychogenic erectile dysfunction, multidisciplinary diagnostic tests are mandatory for the etiologic diagnosis of erectile dysfunction.
Diagnosis ; Diagnostic Tests, Routine ; Erectile Dysfunction* ; Evoked Potentials, Somatosensory ; Humans ; Male ; Penile Erection* ; Reflex ; Ultrasonography, Doppler

No abstract available.
Esophagitis*

No abstract available.
Animals ; Mice* ; Oenanthe*