PURPOSE: To report a patient with Freeman-Sheldon syndrome with blepharophimosis. METHODS: A 4-year-old girl with congenital facial abnormalities consistent with Freeman-Sheldon syndrome presented with complaints of blepharophimosis. The characteristic features of microstomia, down-slanting palpebral fissure, blepharoptosis, and telecanthus were also found. Y-V epicanthoplasty and levator aponeurosis resection were performed. RESULTS: Surgical intervention to correct ptosis and telecanthus led to initially fair cosmetic results, but one month later an unexpected decrease in interpalpebral fissure height was noted. CONCLUSIONS: Freeman-Sheldon syndrome with blepharophimosis is very rare. It was necessary to correct blepharoptosis, telecanthus, and blepharophimosis in the oculoplastic service in this case.
Blepharophimosis ; Blepharoptosis ; Child, Preschool ; Female ; Humans ; Microstomia

BACKGROUND AND OBJECTIVES: Interleukin (IL)-10 is a major regulator of innate immunity. It interferes with the production of inflammatory mediators by reacting with polymorphonuclear neutrophils, monocytes and macrophages. In addition, it also up-regulates the ex-pression of molecules that amplify the anti-inflammatory effect of IL-10. This study tested the hypothesis that injection of various concentrations of exogenous IL-10 in the middle ear cleft can inhibit the acute stage of otitis media induced by lipopolysaccharide (LPS). And if so, the level of concentration for inhibition can be determined. MATERIALS AND METHOD: IL-10 and/or LPS were injected transtympanically into the middle ear cavity of normal mice. Histopathological measurement of submucosal thickness and num-ber of inflammatory cell infiltration was performed at 24 hours after inoculation of IL-10 and/or LPS. RESULTS: At 24 hours after inoculation, every group of IL-10 inoculation reduced both thickening of the mucous and submucosal infiltration of inflammatory cells in a dose-dependent manner. As the concentrations of IL-10 inoculated increased, mucosal thickness and submucosal infiltration of inflammatory cells were more reduced. CONCLUSION: This study demonstrated that exogenous IL-10 injection into the middle ear can directly reduce LPS-induced otitis media in acute stage in a dose-dependent manner. These findings also indicate that IL-10 may be a candidate for local modulator of acute otitis media.
Animals ; Ear, Middle ; Immunity, Innate ; Interleukin-10 ; Interleukins ; Macrophages ; Mice ; Monocytes ; Neutrophils ; Otitis ; Otitis Media

Although various combinations of chemotherapy regimens have been tried for patients with esophageal cancer, their duration of survival is extremely poor. In this study, we investigated the safety and clinical efficacy of paclitaxel and cisplatin chemotherapy in metastatic or recurrent esophageal cancer. 32 patients enrolled in this study and the median age was 60 yr. Of all the 32, 28 patients (88%) had been treated previously, 22 of them with chemotherapy or radiation therapy. All patients in the study received biweekly paclitaxel (90 mg/m2) followed by cisplatin (50 mg/m2). One patient (3%) responded completely, and 12 patients (38%) showed a partial response; in 9 patients (28%) the disease remained stable, and in 10 patients (31%) it progressed. The objective response rate was 41%. The median duration of response was 4.8 months, and the median overall survival in all patients was 7 months. The 1-yr and 2-yr survival rates were 28.1% and 7.1%, respectively. Grade 3 or 4 of neutropenia and anemia were observed in 6 (19%) and 5 (16%) patients, respectively. The major non-hematologic toxicity was fatigue, but most of them could manageable. In conclusion, biweekly paclitaxel and cisplatin is effective in patients with metastatic or recurrent esophageal cancer.
Aged ; Anemia/chemically induced ; Antineoplastic Combined Chemotherapy Protocols/adverse effects/*therapeutic use ; Bone Neoplasms/drug therapy/secondary ; Cisplatin/administration & dosage/adverse effects ; Diarrhea/chemically induced ; Esophageal Neoplasms/*drug therapy/pathology ; Fatigue/chemically induced ; Humans ; Liver Neoplasms/drug therapy/secondary ; Lung Neoplasms/drug therapy/secondary ; Lymphatic Metastasis ; Male ; Middle Aged ; Nausea/chemically induced ; Neoplasm Recurrence, Local ; Paclitaxel/administration & dosage/adverse effects ; Survival Analysis ; Thrombocytopenia/chemically induced ; Time Factors ; Treatment Outcome ; Vomiting/chemically induced

BACKGROUND: An oral glucose tolerance test (OGTT) is the current method used for screening and diagnosis of gestational diabetes mellitus (GDM). OGTT is a relatively complicated procedure and is expensive. Thus, new strategies that do not require fasting or more than a single blood draw may improve the diagnosis of GDM and increase the rate of GDM testing. We investigated the utility of monitoring glycosylated hemoglobin (HbA1c) levels for the diagnosis of GDM. METHODS: The data from 992 pregnant women with estimated gestational ages ranging from 24 to 28 weeks were retrospectively reviewed. There were 367 women with plasma glucose levels > or =140 mg/dL 1 hour after a 50-g OGTT. GDM was diagnosed according to the Carpenter-Coustan criteria for a 3-hour 100 g OGTT. A HbA1c assessment was performed at the same time. RESULTS: We enrolled 343 women in this study, and there were 109 women with GDM. The area under the curve the receiver operating characteristic curve for HbA1c detection of GDM was 0.852 (95% confidence interval, 0.808 to 0.897). A HbA1c cutoff value > or =5.35% had maximal points on the Youden index (0.581). The sensitivity was 87.2% and the specificity was 70.9% for diagnosing GDM. A threshold value > or =5.35% indicated that 163 patients had GDM and that 68 (41.7%) were false positive. The positive predictive value was 58.3% at this threshold value. CONCLUSION: Despite substantial progress in methodology, HbA1c values cannot replace OGTT for the diagnosis of GDM.
Blood Glucose ; Diabetes, Gestational* ; Diagnosis* ; Fasting ; Female ; Gestational Age ; Glucose Tolerance Test ; Hemoglobin A, Glycosylated* ; Humans ; Mass Screening ; Pregnancy ; Pregnant Women ; Retrospective Studies ; ROC Curve ; Sensitivity and Specificity

Pancreatic fistulas are usually caused by the disruption of pancreatic duct. The majority of pancreatic fistulas are external fistulas and common causes of external and internal pancreatic fistulas are trauma and surgery. Internal pancreatic fistulas due to pancreatitis are rare. Internal pancreatic fistulas may communicate with peritoneal cavity, colon, small bowel, biliary system or pleural cavity. Among them, fistula between pancreatic duct and portal vein due to acute pancreatitis is rare. We report a case of 32-year-old male with fistula between pancreatic duct and portal vein as a complication of acute pancreatitis. Pancreaticoportal fistula was diagnosed by endoscopic retrograde cholangiopancreatography. He recovered after distal pancreatectomy with splenectomy and supportive care.
Acute Disease ; Adult ; Cholangiopancreatography, Endoscopic Retrograde ; English Abstract ; Humans ; Male ; Pancreatic Fistula/diagnosis/*etiology ; Pancreatitis/*complications ; *Portal Vein ; Vascular Fistula/diagnosis/*etiology

Ileovesical fistula is a very rare clinical entity, the most frequent cause of which is Crohn's disease. Furthermore, it is an exceptionally rare complication of malignancies. We experienced one case of ileovesical fistula which had been caused by hepatocellular carcinoma (HCC) arising from the noncirrhotic liver. A 27-year-old man was diagnosed with HCC in a noncirrhotic liver. Despite treatment with transarterial chemoembolization (TACE), the disease status became more aggravated. The patient complained of dysuria, fecaluria, and intermittent lower abdominal pain. Pelvic CT scan showed a soft tissue mass of 6 cm abutting on the distal ileum which was downwardly displaced. Barium study of the small bowel showed a fistula between the small bowel loop and the urinary bladder. Upon operation, adhesion and fistula were found between the ileum and the urinary bladder. The microscopic findings of the surgical specimen were compatible with metastatic HCC. We confirmed that ileovesical fistula had been caused by metastatic HCC.
Adult ; Bladder Fistula/*etiology ; Carcinoma, Hepatocellular/*complications ; Humans ; Ileal Diseases/*etiology ; Intestinal Fistula/*etiology ; Liver Neoplasms/*complications ; Male

Kallmann's syndrome is defined as the combination of hypogonadotropic hypogonadism and anosmia/hyposmia. The syndrome is a result of defect in the embryonic migratory pathway of gonadotropin-releasing hormone, which synthesizes neurons and olfactory axons. The hypogonadotropic hypogonadism results due to absence of or incomplete pubertal development and may be associated with anosmia, hyposmia, midline defect(color blindness, cleft-lip, cleft-palate, unilateral renal agenesis, sensorineural deafness), cryptorchidism and skeletal anomaly. Till date in Korea, few cases of Kallmann's syndrome have been reported but there are no available reports on cases of Kallmann's syndrome with unilateral renal aplasia and diabetes mellitus. We handled a case of Kallmann's syndrome associated with unilateral renal agenesis and diabetes mellitus. In the current work, we present a peculiar case as afore mentioned with the review of related literature.
Axons ; Blindness ; Cryptorchidism ; Diabetes Mellitus* ; Gonadotropin-Releasing Hormone ; Hypogonadism ; Kallmann Syndrome* ; Korea ; Male ; Neurons ; Olfaction Disorders

Hyperthyroidism may be associated or present with a variety of neuromuscular disorders, including thyrotoxic myopathy, exophthalmic ophthalmoplegia, periodic paralysis and myasthenia gravis. In contrast to muscle, peripheral nerve involvement in hyperthyroidism is exceedingly rare, and has received little attention. Paraplegia-like weakness during severe hyperthyroidism was first described by Charcot in 1889, and called Basedow's paraplegia' by Joffory in 1894. However, there has been no reported case in Korea. A 38-year-old woman was admitted for evaluation of progressive weakness and a gait disturbance. Her endocrinological results were compatible with hyperthyroidism. The polyneuropathy was also confirmed with sequential electrophysiological studies of the nerves and muscles. Drug therapy for hyperthyroidism resulted in resolution of the clinical neurological symptoms and progressive improvement of electrophysiological findings. Hyperthyroidisms are common medical disorders, which are often accompanied by diverse types of neurological and neuromuscular dysfunctions. All of these neurological manifestations are important, as they can serve as important clues to the diagnosis of a thyroid disorder. Furthermore, they are often related to the patient's presenting complaint. Therefore, the physician must be alert to the diverse manifestations of thyroid dysfunction, as they can lead to the diagnosis of potentially serious but treatable disorders. Herein is reported a case of myopathy and neuropathy associated with hyperthyroidism (Basedow's paraplegia), with a review of the literature
Adult ; Diagnosis ; Drug Therapy ; Female ; Gait ; Humans ; Hyperthyroidism ; Korea ; Muscles ; Muscular Diseases ; Myasthenia Gravis ; Neurologic Manifestations ; Ophthalmoplegia ; Paralysis ; Paraplegia* ; Peripheral Nerves ; Polyneuropathies ; Thyroid Gland

Hyperthyroidism may be associated or present with a variety of neuromuscular disorders, including thyrotoxic myopathy, exophthalmic ophthalmoplegia, periodic paralysis and myasthenia gravis. In contrast to muscle, peripheral nerve involvement in hyperthyroidism is exceedingly rare, and has received little attention. Paraplegia-like weakness during severe hyperthyroidism was first described by Charcot in 1889, and called Basedow's paraplegia' by Joffory in 1894. However, there has been no reported case in Korea. A 38-year-old woman was admitted for evaluation of progressive weakness and a gait disturbance. Her endocrinological results were compatible with hyperthyroidism. The polyneuropathy was also confirmed with sequential electrophysiological studies of the nerves and muscles. Drug therapy for hyperthyroidism resulted in resolution of the clinical neurological symptoms and progressive improvement of electrophysiological findings. Hyperthyroidisms are common medical disorders, which are often accompanied by diverse types of neurological and neuromuscular dysfunctions. All of these neurological manifestations are important, as they can serve as important clues to the diagnosis of a thyroid disorder. Furthermore, they are often related to the patient's presenting complaint. Therefore, the physician must be alert to the diverse manifestations of thyroid dysfunction, as they can lead to the diagnosis of potentially serious but treatable disorders. Herein is reported a case of myopathy and neuropathy associated with hyperthyroidism (Basedow's paraplegia), with a review of the literature
Adult ; Diagnosis ; Drug Therapy ; Female ; Gait ; Humans ; Hyperthyroidism ; Korea ; Muscles ; Muscular Diseases ; Myasthenia Gravis ; Neurologic Manifestations ; Ophthalmoplegia ; Paralysis ; Paraplegia* ; Peripheral Nerves ; Polyneuropathies ; Thyroid Gland

BACKGROUND: Hydatidiform mole (H-mole) is characterized by the neoplastic proliferation of trophoblasts. Only 1~10% of patients with partial H-mole will develop a trophoblastic tumor, but 18~29% of those with complete H-mole will develop a persistent trophoblastic tumor. Therefore, the early diagnosis and monitoring after operation of an H-mole disease are very important. Recently, the pregnancy associated plasma protein-A (PAPP-A) was proved to have a similar role as that of IGF binding protein-4 (IGFBP-4) protease, which has shown an increasing function in fetal growth and development by degradation of IGFBP-4 and an increase in IGF in the serum during pregnancy. Our hypothesis is "the H-mole, which shows placental hyperplasia will also have an IGFBP-4 protease activity, which may be used as in the early diagnosis and monitoring of H-mole disease". METHODS: Serum samples from 6 non-pregnant, 18 pregnant (5 in the 1st trimester, 10 in the 2nd, and 3 in the 3rd), 12 postpartum women and 3 H-mole patients(2 with complete H-mole and 1with partial H-mole) were collected and measured for the -HCG, IGF and PAPP-A levels and IGFBP-4 protease activities by a IGF-II ligand blot analysis and electrophoresis method. The IGFBP-4 protease activity of the serum during normal pregnancy was compared with that of H-mole disease. RESULTS: The results from the in vitro protease assays using recombinant IGFBP-4 determined that IGFBP-4 proteolysis was significantly increased during the first (56%) and second trimesters (90%), but reached a plateau by the third trimester (94%). In H-mole disease diagnosed 11 weeks after conception, the IGFBP-4 proteolytic activity was 97%, which was nearly the same as at terminal pregnancy. This activity gradually decreased to 75% at 1 week, 58.7% at 2 and 33% at 3 weeks after the operation. The -HCG was also decreased from 490,400 to 123,822.7, 1,352.3, and 128.5 mIU/mL at 1, 2 and 3 weeks after the operation, respectively. The PAPP-A level also gradually decreased from 34.87 to 25.5, 12.0 and 2.7 g/mL 1, 2 and 3 weeks after the operation, respectively. However, the IGF decreased from 238.3 to 172.9 ng/mL 1 week after the operation, but increased to 251.4 and 295 ng/mL at 2 and 3 weeks after the operation, respectively. CONCLUSION: These results demonstrated that the IGFBP-4 protease activity was significantly increased during pregnancy, and was extremely elevated durimg the early stages of H-mole disease, but gradually decreased after removal of molar tissue. Therefore, measuring the IGFBP-4 protease activity may play an important role in the early diagnosis and monitoring of H-mole disease
Early Diagnosis ; Electrophoresis ; Female ; Fertilization ; Fetal Development ; Humans ; Hydatidiform Mole ; Hyperplasia ; Insulin-Like Growth Factor Binding Protein 4 ; Insulin-Like Growth Factor II ; Molar ; Plasma ; Postpartum Period ; Pregnancy ; Pregnancy Trimester, Second ; Pregnancy Trimester, Third ; Pregnancy-Associated Plasma Protein-A ; Proteolysis ; Trophoblastic Neoplasms ; Trophoblasts