The authors observed 4 cases of retinitis punctata albescens presented in a family, namely, a sister and 3 brothers of 6 siblings. Typical fundus findings were found in all four patients. Under ordinary illumination, the perripheral visual field was within the limit of normal, but concentrically contracted in 5 to 30 degrees under the reduced illumination.
Humans ; Lighting ; Retinitis* ; Siblings ; Visual Fields

PURPOSE: To evaluate the MR findings of embolized cerebral arteriovenous malformations according to various embolic materials. MATERIALS AND METHODS: We performed the endovascular embolization using four different kinds of embolic materials in 33 patients. Embolization related changes in the nidus and surrounding brain parenchyme were analyzed and the results were compared with pre- and postembolization MRI, CT and anglographic findings in all patients. RESULTS: Embolized vessels with N-buthyl-2-cyanoacrylate(NBCA) mixture showed some artifact in CT due to metallic character of tantalum powder or fatty nature of lipiodol. But in MRI, it was represented by fatty signals without artifact. In cases of using polyvinyl alcohol and ethylene vinyl alcohol copolymer(EVAL), there were no specific signal by the embolic material except for the disappearance of flow related signals in feeding arteries and shrinkage of venous ectasis. CONCLUSION: MRI is a valuable imaging modality for analysing the morphology and hemodynamics of cerebral AVMs, especially after embolization of pathologic vessels. Recognition of the signal of embolic agents and thus the thrombosed portion could lead to more precise analysis before surgery or radiosurgery.
Arteries ; Artifacts ; Brain ; Ethiodized Oil ; Hemodynamics ; Humans ; Intracranial Arteriovenous Malformations ; Magnetic Resonance Imaging* ; Polyvinyl Alcohol ; Radiosurgery ; Tantalum

PURPOSE: To report a case of hypotony maculopathy after silicon oil removal treated by intravitreal gas injection. CASE SUMMARY: A 35-year-old women presented with decreased visual acuity of the right eye for two weeks. Retinal detachment with peripheral retinal tears was observed in the patient's right eye. Pars plana vitrectomy including lensectomy, endolaser photo-coagulation and silicone oil injection was performed. Silicone oil removal was performed to improve patient's visual acuity two months after the operation. After the silicone oil removal, visual acuity was decreased to hand motion, and intraocular pressure was decreased below 3 mmHg while observing chorioretinal folding in fundus for two months. Intraviteal C3F8 gas injections were performed three times in the two months after silicone oil removal. After three gas injections, gradual reduction of chorioretinal folding was observed. Visual acuity was improved to 0.2 and IOP was maintained at 8 to 10 mmHg for 18 months after the last gas injection. CONCLUSIONS: Intravitreal gas injection offers a safe and effective method for treating hypotony retinopathy after silicon oil removal.
Adult ; Eye ; Female ; Hand ; Humans ; Intraocular Pressure ; Patient Rights ; Retinal Detachment ; Retinal Perforations ; Silicone Oils ; Visual Acuity ; Vitrectomy

PURPOSE: Ezrin is a membrane cytoskeletal linker protein and it is known to be associated with metastasis of primary osteosarcoma. The aim of this study is to determine the relationship between an ezrin expression and several key clinical parameters and to elucidate its potential prognostic value for patients with osteosarcoma. MATERIALS AND METHODS: Seventy patients with histologically confirmed osteosarcoma and who had no distant metastasis were enrolled between 1995 and 2005 at Yonsei Cancer Center, Severance Hospital, Korea. The clinical parameters were retrospectively reviewed and immunohistochemical staining (IHC) for ezrin was performed using the surgically resected specimens. RESULTS: Of the 70 tumor specimens, 39 (55.7%) revealed an ezrin expression. More of an osteoblastic histology and an elevated initial ALP level were observed in the ezrin positive patients than in the ezrin negative patients (p=0.008 and 0.001, respectively). The proportion of patients who favorably responded to neoadjuvant chemotherapy (> or =90% necrosis) was significantly higher in the group of ezrin positive patients than that in the group of ezrin negative patient (72.2% vs 45.2%, respectively, p=0.024). The ezrin positive patients showed more frequent recurrence than did the ezrin negative patients (64.1% vs 35.5%, respectively, p=0.017). The patients with an ezrin expression also demonstrated poorer survival than did those patients without ezrin expression (5-year EFS: 31.7% vs 61.3%, respectively, p=0.023, 5-year OS: 53.4% vs 71.0%, respectively, p=0.022). When comparing EFS according to both an ezrin expression and chemoresponsiveness, there were trends that the ezrin negative/chemoresponsive group showed the best 5-year EFS (71.4%), followed by the ezrin negative/chemoresistant group (52.9%), the ezrin positive/chemoresponsive group (38.1%) and the ezrin positive/chemoresistant group (13.6%). These trends were statistically significant (p=0.036). CONCLUSION: The expression of ezrin by IHC staining was found in 55.7% of the patients with metastasis-free osteosarcoma. Immunoreactivity to ezrin is a negative prognostic factor for survival for the patients suffering with osteosarcoma. Identifying an ezrin expression might offer a valuable piece of information when treating patients with primary osteosarcoma.
Cytoskeletal Proteins ; Humans ; Korea ; Membranes ; Neoplasm Metastasis ; Osteoblasts ; Osteosarcoma ; Recurrence ; Retrospective Studies ; Stress, Psychological

Microinvasive adenocarcinoma is not as well studied as microinvasive squamous cell carcinoma because diagnosis of adenocarcinoma cannot be ascertained for early invasive lesions. However, most clinicians consider a depth of invasion of 3 mm without lympho-vascular space invasion as the maximum limit for conservative management. Microinvasive cervical adenocarcinoma is characterized by a rare incidence of lymph node metastasis and very good prognosis. We describe a 62-year-old patient with an extremely early cervical adenocarcinoma which was detected only by endocervical curettage. However, she had multiple macroscopic pelvic node metastases. Clinicians should consider the probability of lymph node metastasis, although management of stage IA1 cervical adenocarcinoma may still be conservative.
Adenocarcinoma ; Carcinoma, Squamous Cell ; Curettage ; Diagnosis ; Humans ; Incidence ; Lymph Nodes ; Middle Aged ; Neoplasm Metastasis ; Prognosis ; Uterine Cervical Neoplasms

Holoprosencephaly is a rare CNS developmental defect with midline cleavage of embryonal forebrain during the fourth week of fetal development characterized with s single ventricle. Holoprosencephaly is divided into three types by the degree of the brain cleavage : alobar, semilobar, and lobar. Depending on the degree of defected regions, there exist variable clinical symptoms and signs such as stillbirth, hypotonia, apnea, convulsion, delayed development and visual disturbance. It was frequently associated with the deformity of the brain as well as the midline facial structures. Advances in neuroimaging over the past decades have led us to a better understanding of the pathogenesis and the variability of holoprosencephaly. As a result, a lot of cases of holoprosencephaly with various clinical and pathologic findings have been reported. We experienced a case of isolated interhemisphere fusion of frontal lobes with intact septum pellucidum in a child with febrile status epilepticus. Is it a variant of holoprosencephaly?
Apnea ; Brain ; Child ; Congenital Abnormalities ; Fetal Development ; Frontal Lobe* ; Holoprosencephaly* ; Humans ; Muscle Hypotonia ; Neuroimaging ; Prosencephalon ; Seizures ; Septum Pellucidum* ; Status Epilepticus ; Stillbirth

No abstract available.

PURPOSE: There are various causes of ureter calculi, and genetic factors are known to play a role. Interleukin-1beta (IL-1beta) and calcium-sensing receptor (CaSR) genes are related to hypercalciuria, and urokinase is related to the formation of calcium oxalate stones. This study investigated polymorphisms in IL-1beta, CaSR, and urokinase in patients with urolithiasis and healthy controls. MATERIALS AND METHODS: Urolithiasis patients treated at Chung-Ang University Hospital were enrolled from January 2007 to December 2008. The control group of volunteers displayed normal urinalysis findings in the health screening, no stones identified by ultrasonography, and no history of urolithiasis. DNA extracted from peripheral blood was analyzed by the polymerase chain reaction. Patients were genetically screened for mutations in IL-1beta (484 urolithiasis patients, 208 controls), CaSR (433 urolithiasis patients, 197 controls), and urokinase (370 urolithiasis patients, 167 controls). Stone metabolic study was done to see the differences between the metabolic factors and to discern normal genes from polymorphic genes. RESULTS: According to the genotype frequency and allele frequency analysis, there were no statistically significant differences between IL-1beta, CaSR, and urokinase genes. Also, the analysis between genotypes and metabolic factors did not show statistically significant differences between the three genes. CONCLUSIONS: In Korean urolithiasis patients, IL-1beta, CaSR, and urokinase gene polymorphisms do not differ from those of healthy individuals. A larger-scale study is needed to confirm the need for other genetic markers of urolithiasis.
Calcium Oxalate ; Calculi ; DNA ; Gene Frequency ; Genetic Markers ; Genotype ; Humans ; Hypercalciuria ; Interleukin-1beta ; Mass Screening ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Receptors, Calcium-Sensing ; Ureter ; Urinalysis ; Urokinase-Type Plasminogen Activator ; Urolithiasis

Renal abscess in childhood is a rare disease, and generally treatment of renal abscesses in childhood follows the guidelines in adults. The guidelines of treatment of renal abscesses in adults include the following:renal abscesses smaller than 3 cm in size can be managed by antibiotics administration, while renal abscesses above 3 cm in size must be considered for percutaneous abscess drainage or open drainage. We experienced a case of a 2 year-old girl with multiple renal abscesses greater than 4 cm in size which resolved by oral antibiotics administration after 2 weeks of intravenous administration. We report this case with literature review.
Abscess* ; Administration, Intravenous ; Adult ; Anti-Bacterial Agents* ; Child, Preschool ; Drainage ; Female ; Humans ; Rare Diseases

No abstract available.
Empyema* ; Malacoplakia*