Aniridia is a relatively rare congenital anomaly and its incidence is about 1:100, 000.Main features of aniridia include congenitally partial or nearly complete absence of the iris and hypoplasia of optic disc and fovea. It is almost bilateral and occurred as an autosomal dominant trait.However, some patients develop both sporadic nonfamilial aniridia and Wilms 'tumor, and another group of patients is transmitted as an autosomal recessive trait. We observed aniridia in two generations, as mother and two daughters. They had cataract, nystagmus, neovascularization of corneal margin and pannus formation, as well as aniridia.We also found hypoplasia of optic disc and fovea in mother. We have operated on mother with phacoemulsified lens aspiration and posterior chamber IOL implantation in both eyes consecutively.The postoperative visual acuity following lens extraction improved, but was not corrected. In addition, intraocular pressure decreased.
Aniridia* ; Cataract ; Family Characteristics ; Humans ; Incidence ; Intraocular Pressure ; Iris ; Mothers ; Nuclear Family ; Visual Acuity

The first case report of granular cell tumor was by Abrikossoff in 1926, the tumor has been named with more than 20 different synonyms. It is found usually in the tongue, oral cavity, and the skin. It occurs rarely in the esophagus. Esophageal granular cell tumor is a benign lesion which can be diagnosed by endoscopic biopsy. Large symptomatic lesion can be removed by polypectomy. A 29-year-old female visited our hospital for intermittent epigastric pain and anterior chest discomfort. Endoscopy showed a 0.6 *0.4 cm whitish yellow nodule in the mid-esophagus, 25 cm from the incisor teeth. Endoscopic polypectomy was performed with "O"-type rubber band for endoscopic variceal ligation(EVL). A case of esophageal granular cell tumor conformed by S-100 protein stain is reported with the review of literature.
Adult ; Biopsy ; Endoscopy ; Esophagus* ; Female ; Granular Cell Tumor* ; Humans ; Incisor ; Mouth ; Rubber ; S100 Proteins ; Skin ; Thorax ; Tongue ; Tooth

PURPOSE: The aim of this study was to evaluate growth status using the insulin-like growth factor-I (IGF-I) and IGF-binding protein-3 (IGFBP-3) concentrations in children with subclinical hypothyroidism (SCH). METHODS: The study included 93 SCH patients (33 males and 60 females, age 8.1+/-1.9 years) and 94 healthy control subjects (31 males and 63 females, age 8.0+/-0.7 years). Patients' height and weight were measured, and their body mass index (BMI) and Z-scores were calculated. The relationship between growth parameters, including IGF-I and IGFBP-3 concentrations and thyroid functions (thyroid-stimulating hormone (TSH) and free thyroxine 4 (fT4) was explored. RESULTS: Although weight and BMI were greater in SCH patients, the Z-score of height, weight and BMI, and serum IGF-I and IGFBP-3 levels in SCH children were not significantly different compared to the control. In SCH patients, TSH showed a negative correlation with weight Z-scores (r=-0.23, P=0.028) and BMI Z-scores (r=-0.21, P=0.048). FT4 showed a positive correlation with IGFBP-3. CONCLUSION: The positive correlation of fT4 and IGFBP-3 and the negative relationship between TSH and weight and BMI Z-scores in SCH children suggest that subnormal thyroid functions could be related to growth impairment.
Body Mass Index ; Child ; Female ; Humans ; Hypothyroidism ; Insulin-Like Growth Factor Binding Protein 3 ; Insulin-Like Growth Factor I ; Male ; Thyroid Gland ; Thyroxine

BACKGROUND: Acute liver failure either after liver resection or as part of underlying liver disease is still associated with high mortality. Various treatments have been tried to improve liver function during acute liver failure, including metabolic and nutritional support, hemodialysis, hemoperfusion, plasmapheresis, and hepatocyte and liver transplantation. Hepatocyte transplantation in various forms has attracted attention recently. We investigated whether allogeneic isolated hepatocytes transplanted in the spleen would prolong survival, facilitate liver regeneration, and improve biochemical parameters in rats with acute liver failure induced by a 90% hepatectomy. METHODS: Allogeneic male Sprague-Dawley rats were used. Group I rats (n=26) received an intrasplenic injection of 2 107 hepatocytes in 0.3 ml of Dulbecco's modified Eagle's medium (DMEM), and 1 days later acute liver failure was induced. Group II acute-liver-failure rats (n=24) received an intrasplenic injection of DMEM. The survival time was determined for 22 rats in Group I and for 20 rats in Group II. The remaining 8 (4/each group) acute liver failure rats were used to assess the liver function and regeneration. RESULTS: The survival was longer and the number of long-term survivors was greater for Group I rats than for the Group II controls. At 24 hour after the hepatectomy, Group I rats had lower ammonia, lower total bilirubin, lower activities of liver enzymes, and higher glucose levels than did Group II rats. In Group I, there was significant increase in the ratio of the weight of the remnant liver lobes to the body weight. CONCLUSION: Compared with the Control group intrasplenic hepatocyte transplantation in acute liver failure rats acts as a bridge to support experimental rats in going from acute or fulminant liver failureto liver regeneration or compensation, prolongs survival in rats with acute liver failure induced by a 90% hepatectomy, and improves the biochemical parameters, except for the albumin levels and prothrombin time. Transplantation of hepatocytes may be beneficial in supporting a liver which has been acutely devastated by a 90% hepatectomy.
Ammonia ; Animals ; Bilirubin ; Body Weight ; Compensation and Redress ; Glucose ; Hemoperfusion ; Hepatectomy* ; Hepatocytes* ; Humans ; Liver ; Liver Diseases ; Liver Failure, Acute* ; Liver Regeneration ; Liver Transplantation ; Male ; Mortality ; Nutritional Support ; Plasmapheresis ; Prothrombin Time ; Rats* ; Rats, Sprague-Dawley ; Regeneration ; Renal Dialysis ; Spleen ; Survivors

N/AWe evaluate the regenerating capacity of rat liver according to the severity and duration of the obstructive jaundice. Also we evaluate the regenerating capacity of hepatectomized rat liver according to the duration of the obstructive jaundice. The 10 week-old Sprague-Dawley rats were used. Common bile duct ligation and sequential partial hepatectomies were done. The regenerating capacity was measured by tritiated thymidine incorporation into rat liver DNA. The rate of incorporation of thymidine into DNA in the jaundiced livers increased significantly compared with that in the sham-operated liver on day 3.In jaundiced rats, the regenerating capacity after partial epatectomy decreased markedly without a return toward normal on day 3 and kept low thereafter. The duration of obstructive jaundice may be a key factor in the regeneration of rat liver after partial hepatectomy.
Animals ; Bile Ducts* ; Bile* ; Common Bile Duct ; DNA ; Hepatectomy ; Jaundice, Obstructive ; Ligation* ; Liver Regeneration* ; Liver* ; Rats* ; Rats, Sprague-Dawley ; Regeneration ; Thymidine

Branchio-oto-renal (BOR) syndrome is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities. BOR syndrome is caused by mutations in EYA1 and SIX1, which are critical to organogenesis and are expressed together in developing otic, branchial, and renal tissue. Branchio-otic (BO) syndrome comprises branchial fistulas and preauricular pits, but lacks renal anomalies. We present a case of BO syndrome in 30year-old man with a review of the literature.
Branchial Region ; Branchio-Oto-Renal Syndrome ; Branchioma ; Fistula ; Hearing Loss ; Organogenesis

BACKGROUND: Helicobacter pylori (H. pylori) can now be eradicated in the majority of patients with 7 days of treatment with OAC (omeprazole+amoxicillin+clarithromycin) regimen. It is unclear if additional acid-suppressing treatment should be continued beyond 7 days in patients with active gastric or duodenal ulcers. METHODS: Ninety two patients with endoscopically proven active peptic ulcers who were H. pylori positive were randomized to receive either omeprazole 20 mg plus amoxicillin 1.0g plus clarithromycin 500mg ; twice daily for 1 week alone (OAC group) or same regimen followed by 3 weeks of omeprazole (OACP group). Endoscopy and UBT (urea breath test) were performed 8 weeks after the initiation of treatment. RESULTS: Forty four of forty five (97.8%) of OAC group and forty four of forty seven (93.6%) of OACP group were noted to have healed ulcer at week 8. CONCLUSION: In patients with H. pylori infection and peptic ulcers, one week of OAC therapy without further need for PPI may heal the ulcers. Following an l week course of H. pylori eradication therapy by OAC for peptic ulcers, further 3 weeks of acid-suppressing therapy with PPI was not proven to promote ulcer healing rate.
Amoxicillin ; Clarithromycin ; Duodenal Ulcer ; Endoscopy ; Helicobacter pylori* ; Helicobacter* ; Humans ; Omeprazole ; Peptic Ulcer* ; Ulcer

Pheochromocytoma is derived from the chromaffin cells and patients with pheochromocytoma present with several signs and symptoms by producing, storing and secreting catecholamine. Spontaneous rupture or necrosis of pheochromocytoma is extremely rare, but it can be lethal because of the dramatic change in the circulation such as an acute abdominal emergency or shock. Spontaneous remission of the clinical symptoms due to necrosis of the pheochromocytoma is rare. We describe such a case that presented with cardiogenic shock due to extensive necrosis of the pheochromocytoma and this was followed by spontaneous remission of the clinical symptoms without removal of the pheochromocytoma.
Chromaffin Cells ; Emergencies ; Humans ; Necrosis ; Pheochromocytoma ; Remission, Spontaneous ; Rupture, Spontaneous ; Shock ; Shock, Cardiogenic

OBJECTIVE: The aim of this study was to evaluate clinicopathologic characteristics of squamous cell carcinoma arising from ovarian mature cystic teratoma and to determine whether SCC Ag and CA 125 are useful serum markers for diagnosing this tumor. METHODS: From January 1990 to December 2005, 1266 patients diagnosed with ovarian mature cystic teratoma were reviewed. Of the 1266 patients, 8 patients which had squamous cell carcinoma arising from mature cystic teratoma were evaluated in this study. A retrospective analysis of clinicopathologic characteristics and disease-free survival rate was performed. RESULTS: The incidence of squamous cell carcinoma arising from ovarian mature cystic teratoma was 0.7% (8/1266). The mean age of the patients was 47.3 years (range, 32-72 years). Five patients (62.5%) had clinical FIGO stage I disease and three patients (37.5%) had stage III disease. The mean tumor diameter was 13.3 cm. The mean SCC Ag level was 0.3 ng/mL which was normal and the mean CA 125 was slightly increased to 68.5 U/mL. The mean disease free survival was 58.4 months and 2-year disease-free survival was 62.5% (5/8). Out of 8 patients, one patient died and one out of 7 patients who survived had recurrence. Age, clinical FIGO stage, grade, residual tumor, postoperative treatment were not significant prognostic factor for disease-free survival. CONCLUSION: The incidence of squamous cell carcinoma arising from ovarian mature cystic teratoma in our institute was lower and survival rate was relatively higher compared to previous studies. SCC Ag and CA 125 were not helpful tumor markers in diagnosing squamous cell carcinoma arising from ovarian mature cystic teratoma. Age, grade, residual tumor, postoperative treatment were not significant prognostic factor for disease-free survival.
Biomarkers ; Carcinoma, Squamous Cell* ; Disease-Free Survival ; Female ; Humans ; Incidence ; Neoplasm, Residual ; Ovary* ; Recurrence ; Retrospective Studies ; Survival Rate ; Teratoma* ; Biomarkers, Tumor

Hepatoid carcinoma is histologically similar to hepatocelluar carcinoma and produce alfa-fetoprotein. Ovarian hepatoid carcinoma is extremely rare whether primary or metastatic. We experienced one case of primary ovarian hepatoid carcinoma. In this case report, we present histologic findings, therapeutic modalities of primary hepatoid carcinoma with review of literatures.
alpha-Fetoproteins ; Female ; Ovary