We have experienced a case of plexiform neurofibrorna of the right upper eyelid and orbit in a 12-year-old girl who had typical skin features of neurofibromatosis and no family history. The non-pulsating proptosis of the right eye and diffuse thickening with hypertrophy of the upper lid, had increased insiduciusly since the birth on. Biopsy taken from eyelirl lesion showed the features of plexiform neurofibroma. Skull X-ray and brain computerized tomogram showed that the right orbit was wider, with the enlarged mass and defects in orbital roof and lesser and greater wings of the sphenoid bone. The surgical excision of the right eyelid lesion was performed.
Biopsy ; Brain ; Child ; Exophthalmos ; Eyelids* ; Female ; Humans ; Hypertrophy ; Neurofibroma, Plexiform* ; Neurofibromatoses* ; Orbit* ; Parturition ; Skin ; Skull ; Sphenoid Bone

Central nervous system impairment is common in diabetic patients, even in the early stages of the disease, and could be associated with peripheral neuropathy. The aims of this study were to prospectively investigate central nerve conduction in young adults with type 1 diabetes using pattern-reversal visual evoked potentials (PRVEP) and to determine how those results were related to clinical risk factors and the parameters of the peripheral nerve conduction study (NCS). A total of 36 type 1 diabetic patients (15 males) 5-24 years of age (mean 14.5 ± 4.7) underwent PRVEP and NCS annually for five years. For comparison, 39 healthy age and sex matched individuals (mean 14.8 ± 5.0) were evaluated as the control group. The P100 latencies of the PRVEP were prolonged at the study entry in the patients compared with the controls (p< 0.001). Significant correlations were not found between any of the parameters of PRVEP and the glycosylated hemoglobin levels; however, the changes in the parameters of the peripheral NCS were well correlated with metabolic control. The latencies and amplitudes of the P100 were not related to the majority of the parameters of the NCS. A prolonged PRVEP latency may be a sign of optic pathway dysfunction, which begins before apparent diabetic retinopathy. Poor glycemic control proved to be an important risk factor over the 5 years in terms of its relation to the development of peripheral neural pathway abnormalities. However, once central conduction was delayed, its changes were poorly related to diabetic control and the attributes of the peripheral nerve conduction study over the 5-year follow-up.
Diabetes Mellitus

Pathologic fracture occurs in a bone with preexisting stuctual weakness. The author reviewed 30 cases of pathologic fractures in which admission record and X-ray finding was well preserved among 53 cases admitted patients in the department of Orthopaedic Surgery, Seoul National Universty Hospital for 10 years from 1967. The results were as follows: 1.Age & Sex incidence showed even distribution. 2. The most frequent involved site was femur (40%) 3. The underlying etiology was as follows: 2 chronic osteomyelitis 1 homophilia 7 benign tumor 20 malignant tumor 4. metastatic tumor was the most frequent cause in 30 cases. 5. Treatment was as follows: Conservative treatment 4 cases Surgery 21 cases.
Clinical Study ; Femur ; Fractures, Spontaneous ; Humans ; Incidence ; Osteomyelitis ; Seoul

29 isoniazid (INH) resistant isolated strains and INH sensitive reference strain (H37Rv) of Mycobacterium tuberculosis were analysed by polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and NciI restriction mapping for the detection of mutations in katG gene and inhA gene. The katG gene was divided into 3 parts (Akat, Bkat, Ckat; each part is about 800 bp) and amplified, inhA gene was amplified as a whole. Each of the amplified 800 bp DNA was digested into small fragments of less than 400 bp with restriction enzymes for the direct PCR-SSCP analysis. Firstly, 10 strains were analysed. All the 10 isolates showed clearly distinct SSCP patterns in Bkat from that of the reference strain, but only two isolates showed distinct SSCP patterns in Akat, and no isolated strain showed any distinct SSCP patterns in Ckat. 10 isolates also showed distinct SSCP patterns in inhA. NciI restriction mapping of Bkat showed mutation in codon 463 in 7 strains among 10 isolated strains. With these results an early detection strategy for the INH resistant M. tuberculosis was applied to the rest of 19 isolated INH resistant strains. Firstly, isolates were screened by Ncsl mapping in Bkat, and 13 strains showed mutations in codon 463. Secondly, the rest of 6 INH resistant isolates were analysed by PCR-SSCP with restriction enzyme digestion (PCR-SSCP-RE) in Bkat, and all the strains showed distinct SSCP patterns from that of the INH sensitive reference strain. This proved our strategy as effective and economic and time saving method in early detection of INH resistant M. tuberculosis.
Codon ; Diagnosis* ; Digestion ; DNA ; Isoniazid* ; Korea* ; Mycobacterium tuberculosis* ; Mycobacterium* ; Polymorphism, Single-Stranded Conformational ; Restriction Mapping ; Tuberculosis

No abstract available.
Blood Group Antigens*

Melorheostosis is a rare disease entity of bone with an etiology and pathogenesis. It cause pain and stiffness in an affected limb, and dense bone formation along the side of bone resembles the flow of candle dripping. Two cases of the disease involving left hand and wrist, and right lower leg are reported with the review of literature.
Extremities ; Hand ; Hyperostosis ; Leg ; Melorheostosis ; Osteogenesis ; Rare Diseases ; Wrist

BACKGROUND: Severe or massive postpartum hemorrhage (PPH) has remained a leading cause of maternal mortality for decades across the world and it results in critical obstetric complications. Recombinant activated factor VII (rFVIIa) has emerged as a gold standard adjunctive hemostatic agent for the treatment of life-threatening PPH refractory to conventional therapies although it remains off-licensed for use in PPH. We studied the effects of rFVIIa on coagulopathy, transfusion volume, prognosis, severity change in Korean PPH patients. METHODS: A retrospective review of medical records between December 2008 and March 2011 indicating use of rFVIIa in severe PPH was performed. We compared age, rFVIIa treatment, transfusion volume, and Sequential Organ Failure Assessment (SOFA) score at the time of arrival in the emergency department and after 24 hours for patients whose SOFA score was 8 points or higher. RESULTS: Fifteen women with SOFA score of 8 and above participated in this study and eight received rFVIIa administration whereas seven did not. Patients' mean age was 31.7 ± 7.5 years. There was no statistically significant difference in initial and post-24 hours SOFA scores between patients administered rFVIIa or not. The change in SOFA score between initial presentation and after 24 hours was significantly reduced after rFVIIa administration (P = 0.016). CONCLUSIONS: This analysis aimed to support that the administration of rFVIIa can reduce the severity of life-threatening PPH in patients. A rapid decision regarding the administration of rFVIIa is needed for a more favorable outcome in severe PPH patients for whom there is no effective standard treatment.
Emergency Service, Hospital ; Factor VIIa* ; Female ; Humans ; Maternal Death ; Maternal Mortality ; Medical Records ; Organ Dysfunction Scores ; Postpartum Hemorrhage* ; Postpartum Period* ; Prognosis ; Recombinant Proteins ; Retrospective Studies

No abstract available.
Anemia, Iron-Deficiency* ; Iron* ; Milk*

Predisposing factors for venous thrombosis can be identified in the majority of patients with established venous thromboembolism (VTE). However, an obvious precipitant may not be identified during the initial evaluation of such patients. In the present case, a 47-year-old female presented to the emergency department of our hospital after ingesting multiple drugs. She had no VTE-related risk factors or previous episodes, nor any family history of VTE. After admission to the intensive care unit sudden hypoxemia developed, and during the evaluation cerebral, renal, and splenic infarctions with pulmonary embolisms were diagnosed. However, the sources of the emboli could not be identified by transthoracic echocardiography or computed tomography angiography. Protein C deficiency was identified several days later. We recommend that hypercoagulable states be taken into consideration, especially when unexplained thromboembolic events develop in multiple or unusual venous sites.
Angiography ; Anoxia ; Causality ; Echocardiography ; Emergency Service, Hospital ; Female ; Humans ; Infarction* ; Intensive Care Units ; Middle Aged ; Protein C Deficiency ; Pulmonary Embolism ; Risk Factors ; Splenic Infarction ; Thrombophilia ; Venous Thromboembolism ; Venous Thrombosis

Double primary cancer is defined as the case of primary malignant tumors in one person, which must be arisen in different sites and have a different histologic appearances in each other. The number of reported cases of multiple primary malignant tumors has increased in recent years, because of more developed diagnostic procedure and long survival of cancer patients, We have experienced 4 cases of double primary malignant tumors which were stomach cancer with colon, bronchus and esophagus cancer, and report these cases with review of literatures.
Bronchi ; Colon ; Esophageal Neoplasms ; Humans ; Stomach Neoplasms