Sjogren-Larsson Syndrome is a rare disorder chracterized by congenital icthyosis, spastic diplegia or tetraplegia and mental retardation. The inheritance is autosomal recessive, due to deficiency of alcohol dehydrogenase activity of fatty acid matabolism. We have experienced a case of Sjogren-Larsson Syndrome in a 16 month-old male children who have dried thick skin, developmental delay, and spastic diplegia. He also has glistening spot on macula area with irregular high voltage slow wave (2-3Hz) on electroencephalography. From Biopsy finding, Lamella ictyosis with acanthosis and hyperkeratosis in epithelium is shown. He was much improved clinically for skin lesion and developmental status with etretinate supplement. We report the case with brief review of related literatures.
Acitretin ; Alcohol Dehydrogenase ; Biopsy ; Cerebral Palsy ; Child ; Electroencephalography ; Epithelium ; Etretinate ; Humans ; Infant ; Intellectual Disability ; Male ; Quadriplegia ; Sjogren-Larsson Syndrome* ; Skin ; Wills

The objective of this study is to measure eosinophil count and Eosinophil Cationic Protein (ECP) levels of tears and sera in patients with acute allergic conjunctivitis and normal subjects and to assess the correlation of this mediator with allergic conjuctivitis and the clinical usefulness. Seventeen subjects were selected on the basis of clinical manifestation, history, skin prick test, total IgE. Serum IgE and eosinophil count were increased in 10patients, and eosinophilia in conjunctival epithelium were present in 11subjects. ECP in tears were increased in patients significantly (12.0+/-8.0 vs 3.9+/-3.8ng/ml,p=0.01), but not in serum (52.5+/-43.1 vs 28.3+/-25.9ng/ml). There was significant relationship beween serum and tear eosinophil count(p=0.004,r=0.66). But there was no significant correlation between eosinophil count and ECP in serum (p>0.05m r=0.19), and no significant correlation between eosinophil count of conjectival epithelium and tears ECP (p=0.043, r=0.05). In conclusion, ECP in tears may be very important role in allergic conjunctivitis and is more reliable indicatior of diagnosis clinically rather than eosinophil count in tear and conjunctival epithelium.
Child* ; Conjunctivitis, Allergic* ; Diagnosis ; Eosinophil Cationic Protein* ; Eosinophilia ; Eosinophils* ; Epithelium ; Humans ; Immunoglobulin E ; Skin

Guillain-Barre syndrome, acute inflammatory polyradiculoneuropathy, is sometimes accompanied by a typical ophthalmoplegia, usually with bilateral sixth nerve palsy. It also has a similar clinical appearance with Miller-Fisher syndrome, but it is differentiated by limb weakness without ataxia. We observed a 47 year old man with acute onset diplopia and bilateral sixth nerve palsy one week after URI symptoms, diagnosed as Guillain-Barre syndrome with ophthalmoplegia.
Abducens Nerve Diseases* ; Ataxia ; Diplopia ; Extremities ; Guillain-Barre Syndrome* ; Humans ; Middle Aged ; Miller Fisher Syndrome ; Ophthalmoplegia

A 45-year-old woman with recurrent disturbances of consciousness for 4 years with hypoglycemia was hospitalized with the clinical suspicion of an insulinoma. The findings of transabdominal ultrasonography, computed tomography and angiography were negative. Transhepatic venous sampling for pancreatic hormone assay showed sudden step-up of serum level of insulin in the venous blood from the tail of the pancreas. Finally, an endoscopic ultrasonographic examination established with certainty the origin of the tumor from the tail of the pancreas, which was subsequently confirmed at operation. In conclusion, endoscopic ultrasonography is a useful and valuable procedure for the localization of insulinoma especially in patient with insulinoma of the pancreas that cannot be localized by conventional methods.
Angiography ; Consciousness ; Endosonography* ; Female ; Humans ; Hypoglycemia ; Insulin ; Insulinoma* ; Middle Aged ; Pancreas ; Ultrasonography

Unlike volume models, surface models, which are empty three-dimensional images, have small file size, so that they can be displayed, rotated, and modified in a real time. For the reason, the surface models of liver and neighboring structures can be effectively applied to virtual hepatic segmentectomy, virtual laparoscopic cholecystectomy, and so on. The purpose of this research is to present surface models of detailed structures inside and outside the liver, which promote medical simulation systems. Forty-seven chosen structures were liver structures such as portal triad, hepatic vein, and neighboring structures such as the stomach, duodenum, muscles, bones, and skin. The structures were outlined in the serially sectioned images from the Visible Korean Human to prepare segmented images. From the segmented images, serial outlines of each structure were stacked; on the popular commercial software, advanced surface reconstruction technique was applied to build surface model of the structure. A surface model of the liver was divided into eight models of hepatic segments according to distribution of the portal vein. The surface models will be distributed to encourage researchers to develop the various kinds of medical simulation of the abdomen.
Asian Continental Ancestry Group ; Computer Simulation ; Humans ; *Image Processing, Computer-Assisted ; Imaging, Three-Dimensional ; Liver/*anatomy & histology ; *Models, Anatomic ; Models, Biological ; Portal Vein/anatomy & histology ; Software ; Tomography, X-Ray Computed

PURPOSE: Phyllodes tumors are fibroepithelial mammary lesions that tend to behave in a benign fashion but may undergo sarcomatous transformation. They account for 0.3 to 0.5 percent of all breast tumors. Their behavior is not well understood by many clinicians. MATERIALS AND METHODS: We retrospectively reviewed the clinical, radiologic, and pathologic finding and treatment modality of 31 patients of phyllodes tumor diagnosed at the Breast Clinic, Gachon Medical School Gil Medical Center between July 1992 and July 2000. RESULTS: Pathologically, 6 patients (19.3%) had malignant tumor and 25 patients (80.7%) had benign lesions. All were women with average age of 36 years. The patients with malignant tumors tended to be older and had larger tumors and shorter duration. For preoperative diagnosis, we used mammography, sonography, and MIBI Scintimammography, fine needle aspiration cytology and biopsy. All these diagnostic methods suggested the diagnosis of phyllodes tumors in only 8 cases (26%). All patients received surgical treatment: excision in 21 cases, wide excision in 3 cases, simple mastectomy in 5 cases, and simple mastectomy with axillary lymph node dissection 2 cases. One patient with malignant tumor, two patients with borderline tumor and three patients with benign tumor experienced recurrence (19.3%). CONCLUSION: None of the clinical or radiologic characteristics was useful in predicting for phyllodes tumor. Phyllodes tumors were difficult to make proper preoperative diagnoses and to differ malignant tumor from a benign one. This led to a simple excision and resulted in high local recurrence. We suggest that the initial or subsequent wide excision is an appropriate surgery to decrease the recurrence.
Biopsy ; Biopsy, Fine-Needle ; Breast Neoplasms ; Breast* ; Diagnosis ; Female ; Humans ; Lymph Node Excision ; Mammography ; Mastectomy, Simple ; Phyllodes Tumor* ; Recurrence ; Retrospective Studies ; Schools, Medical

The methylation of a 23-kDa nuclear protein increased after partial hepatectomy and methylation returned to basal levels after the initial stage of regeneration. The methylating enzyme was partially purified from rat liver by ammonium sulfate precipitation, DEAE-anion exchange chromatography and Butyl-Sepharose chromatography. The 23-kDa protein was purified from a nuclear fraction of liver tissue with SP-Sepharose. When the 23-kDa protein was methylated with the partially purified methyltransferase and analyzed on C18 high performance liquid chromatography (HPLC), the methylated acceptor amino acid was monomethyl lysine (MML). Previously, only arginine N-methylation of specific substrate proteins has been reported during liver regeneration. However, in this report, we found that lysine N-methylation increased during early hepatic regeneration, suggesting that lysine N-methylation of the 23-kDa nuclear protein may play a functional role in hepatic regeneration. The methyltransferase did not methylate other proteins such as histones, hnRNPA1, or cytochrome C, suggesting the enzyme is a 23-kDa nuclear protein- specific lysine N-methyltransferase.
Animals ; Cytochromes c/metabolism ; DNA Helicases/metabolism ; Hepatectomy ; Histone-Lysine N-Methyltransferase/*metabolism ; Histones/metabolism ; Liver ; Liver Regeneration/*physiology ; Lysine/*metabolism ; Methylation ; Proteins/*metabolism ; Rats ; Rats, Sprague-Dawley ; Research Support, Non-U.S. Gov't

Intramural duodenal hematoma is an uncommon condition, which usually develops after blunt abdominal trauma. It is also reported as a complication of anticoagulant therapy, blood dyscrasia, pancreatic disease, and diagnostic and therapeutic endoscopy. The typical clinical pictures of intramural duodenal hematoma consist of upper abdominal pain, vomiting, fever, and hematochezia, and it is rarely accompanied by intestinal obstruction, peritonitis, and pancreatitis as its complication. We report a case of intramural duodenal hematoma extended to peritoneal cavity, and accompanied by acute pancreatitis following therapeutic endoscopy for duodenal ulcer bleeding in a 32-year-old man who was on maintenance of anti-coagulation therapy after valvular heart surgery.
Acute Disease ; Adult ; Diagnosis, Differential ; Duodenal Diseases/*diagnosis/pathology/surgery ; Duodenal Ulcer/*complications ; Hematoma/*diagnosis/pathology/surgery ; *Hemostasis, Endoscopic ; Humans ; Male ; Pancreatitis/complications/*diagnosis ; Peptic Ulcer Hemorrhage/*therapy ; Postoperative Complications ; Tomography, X-Ray Computed

Waldenstrom's macroglobulinemia is a rare disease of plasmacytoid lymphocyte proliferation usually presented without bone lesion which is the common presenting symptom in multiple myeloma. We report a 50-year-old female with Waldenstrom's macroglobulinemia presented as a bony lesion without many other features common in this diesease. She was admitted with the chief complaint of low back pain and low extremity paresthesia for two months. Bone marrow biopsy and aspiration, protein and immune electrophoresis showed findings consistent with Waldenstr m's macroglobulinemia. Magnetic resonance imaging of thoracic spine showed pathologic compression fracture in T6 and T7 with posterior epidural mass at T6 to T7 level. We report this unusual case of Waldenstrom's macroglobulinemia presented as compression fracture of thoracic spine with a review of literatures.
Biopsy ; Bone Marrow ; Electrophoresis ; Extremities ; Female ; Fractures, Compression* ; Humans ; Low Back Pain ; Lymphocytes ; Magnetic Resonance Imaging ; Middle Aged ; Multiple Myeloma ; Paresthesia ; Rare Diseases ; Spine* ; Waldenstrom Macroglobulinemia*

To determine whether the tumor cell contamination of peripheral blood stem cells influences clinical impacts on high-dose chemotherapy in patients with metastatic breast cancer, we analyzed carcinoembryonic antigen (CEA) mRNA in the apheresis products by nested RT-PCR (reverse transcriptase-polymerase chain reaction). A total of 38 metastatic breast cancer patients and ten normal healthy subjects as a negative control were included. Twenty out of 38 (51.3%) apheresis products from patients with metastatic breast cancer were positive for CEA mRNA. CEA mRNA was noted in 54.8% (17/31) of patients mobilized with chemotherapy plus G-CSF and 42.8% (3/7) of patients with G-CSF alone. There was no significant difference in age, estrogen receptor, menopausal status, mobilization method, disease free interval, or number of metastasis sites (1 vs >/=2) between positive and negative groups. The presence of CEA mRNA in apheresis products did not influence the time to progression and overall survival in both groups. However, both the univariate and the multivariate analysis disclosed that the number of metastasis was associated with survival significantly. We suggest that the tumor cell contamination does not predict poor treatment outcome in patients with metastatic breast cancer.
Adult ; Antineoplastic Agents, Combined/administration & dosage ; Breast Neoplasms/*drug therapy/mortality/*secondary ; Carcinoembryonic Antigen/genetics ; Combined Modality Therapy ; Cyclophosphamide/administration & dosage ; Disease-Free Survival ; Doxorubicin/administration & dosage ; Epirubicin/administration & dosage ; Female ; Fluorouracil/administration & dosage ; Hematopoietic Stem Cell Transplantation/*adverse effects ; Human ; Middle Age ; Multivariate Analysis ; Neoplasm Circulating Cells ; Polymerase Chain Reaction ; Prognosis ; RNA, Messenger/analysis ; Reverse Transcriptase Polymerase Chain Reaction