Canavan disease(CD) is a rare autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase and the accumulation in brain of N-acetylaspartate(NAA). CD has been reported mainly Ashkenazi Jews but also occurs in other ethnic groups. Usually it presents as early as the third month of life with megalencephaly, hypotonia later progressing to hypertonia, psychomotor and mental retardation, blindness, occasionally deafness and seizure. Diagnosis is based on the clinical feature, N-acetylaspartic aciduria, radiologic and pathologic findings. Histologically, the affected white matter shows extensive vacuolation and demyelination. There is no treatment for CD and the only prevention is through genetic counselling and prenatal diagnosis. We experienced a case of Canavan disease that was presented with hypotonia and developmental delay. Diagnosis was confirmed histologically. Radiologic findings are extensive high signal throughout the white matter on T2-weighted MRI and increased NAA peak and decreased choline peak of the white matter on MR spectroscopy.
Blindness ; Brain ; Canavan Disease* ; Choline ; Deafness ; Demyelinating Diseases ; Diagnosis ; Ethnic Groups ; Humans ; Intellectual Disability ; Jews ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Muscle Hypotonia ; Prenatal Diagnosis ; Seizures

No abstract available.
Cesarean Section* ; Female ; Pregnancy

Bone substitutes used in regeneration of bone defect are classified into osteoinductive materials such as demineralized bone matrix and osteoconductive such as hydroxyapatite. But the comparative studies on the bone regeneration after grafts were very rare. About 700 mm demineralized bone matrix particles made from the long bone and hydroxyapatite were allografted into the artificial defect at the medial surface of tibia of adult rabbits, and then the grafts were observed histologically from 3 days to 8 weeks. Lots of fibrin network with blood cells were formed among the demineralized bone particles and hydroxyapatite particles on the 3rd day after graft. Endochondral and intramembranous bone formation from demineralized bone matrix particles, which were resorbed by multinucleated cells, were induced on the 7th day after graft. More rapid bone formation was seen in hydroxyapatite group compared with control group. The central portions of the defect were regenerated with trabecular bone on the 2nd week after graft in the demineralized bone matrix and hydroxyapatite graft group, but they were filled with fibrous tissue in control group. The trabecular bone was being replaced by lamellar bone when the animals were grafted with demineralized bone matrix but the bone just started to be replaced with lamellar bone in hydroxyapatite graft group 4 weeks after graft. On the contrary, the defect was filled by trabecular bone only in the control group. More rapid and perfectionistic lamellar bone formation was seen in bone matrix group compared with hydroxyapatite group after 8 weeks of graft. Partial non-union of the defect is noted in control group. These results suggest that osteoinduction by demineralized bone matrix is more effective than osteocon-duction by hydroxyapatite in regeneration of bone defects.
Adult ; Allografts ; Animals ; Blood Cells ; Bone Matrix* ; Bone Regeneration ; Bone Substitutes ; Durapatite* ; Fibrin ; Humans ; Osteogenesis ; Rabbits ; Regeneration* ; Tibia ; Transplants*

OBJECTIVES: Schizophrenia manifests a variety of interindividual differences in therapeutic response to antipsychotics. This might be attributable to dopamine and serotonin receptors that a important target for various antipsychotics, and the D3 receptor(DRD3) alleles they carry. The purpose of our study was to investigate whether the plasma levels of homovanillic acid(HVA) and 5-hydroxyindoleacetic acid(HIAA), and the polymorphism of DRD3 can be held as a predictor of treatment response ni chronic schizophrenic patients. METHODS: Therapeutic response for 16 korean schizophrenia patient treated during 48 weeks were assessed by PANSS used as the clinical symptom rating scales. The levels of concentration of HVA and 5-HIAA were examined by HPLC at baseline and at 48 weeks. We classified the polymorphism of DRD3 receptor using amplifying by polymerase chain reaction(PCR). RESULTS: Neither concentrations of HVA and 5-HIAA nor genotype of dopamine 3 receptor were not significantly associated with the therapeutic response. But, the patients who has A1 alleles of DRD3 gene showed poor therapeutic responses. CONCLUSION: A1 allele of DRD3 gene is associated with poor prognosis of chronic schizophrenia.
Alleles ; Antipsychotic Agents ; Chromatography, High Pressure Liquid ; Dopamine* ; Genotype ; Homovanillic Acid ; Humans ; Hydroxyindoleacetic Acid ; Plasma* ; Prognosis ; Receptors, Dopamine D3* ; Receptors, Serotonin ; Schizophrenia ; Weights and Measures

No abstract available.
Biopsy, Fine-Needle* ; Fasciitis*

'I'he adult form of myasthenia gravis (MG) is an autoimmune disorder characterized by the presence of anti-acetylcholine receptor immunoglobulin G antibodies (anti-ACHRIgG) which blocks the formation of acetylcholine at the motor end plate and causes anatomic deterioration of this structure. 'I'he end result is defective neuromuscular transmission manifested by progressive skeletal muscle weakness. We have experienced a full term pregnancy complicated with the myasthenia gravis. We experienced a case of myathenia gravis associated with pregnancy who underwent cesarean section. The case is presented here with a brief review of literatures concerned.
Acetylcholine ; Adult ; Antibodies ; Cesarean Section ; Female ; Humans ; Immunoglobulin G ; Motor Endplate ; Muscle, Skeletal ; Myasthenia Gravis ; Pregnancy*

Although most of the patients with endobronchial tuberculosis have some degree of bronchial stenosis, more aggressive treatment is needed to restore the patency of the involved tracheobronchial tree for some patients not responding well to antituberculous chemotherapy combined with steroids. In our first case, we resected stenotic trachea in a 42 years old women who showed overgrowing granulation tissue through the modified Gianturco stent wire which was previously inserted and anastomosed end to end. Another case was a 37 years old male with left main bronchial restenosis complicated after inserting a Strecker stent and sleeve left upper lobectomy was performed.
Adult ; Constriction, Pathologic* ; Drug Therapy ; Female ; Granulation Tissue ; Humans ; Male ; Stents* ; Steroids ; Trachea ; Tuberculosis

Although most of the patients with endobronchial tuberculosis have some degree of bronchial stenosis, more aggressive treatment is needed to restore the patency of the involved tracheobronchial tree for some patients not responding well to antituberculous chemotherapy combined with steroids. In our first case, we resected stenotic trachea in a 42 years old women who showed overgrowing granulation tissue through the modified Gianturco stent wire which was previously inserted and anastomosed end to end. Another case was a 37 years old male with left main bronchial restenosis complicated after inserting a Strecker stent and sleeve left upper lobectomy was performed.
Adult ; Constriction, Pathologic* ; Drug Therapy ; Female ; Granulation Tissue ; Humans ; Male ; Stents* ; Steroids ; Trachea ; Tuberculosis

PURPOSE: We performed a comparative analysis of the clinicopathologic features and oncologic outcomes of colorectal cancer patients with metachronous versus synchronous metastasis, according to the prognostic factors. METHODS: Ninety-three patients who underwent curative resection for distant metastatic colorectal cancer were included in the study between December 2001 and December 2011. We assessed recurrence-free survival and overall survival in patients with distant metastasis who underwent curative surgery. RESULTS: The most common site of distant metastasis was lung alone (n = 19, 51.4%) in patients with metachronous metastasis, while liver alone was most common in those with synchronous metastasis (n = 40, 71.4%). Overall survival rate was significantly different between patients with synchronous metastasis and metachronous metastasis (34.0% vs. 53.7%; P = 0.013). Incomplete resection of the metastatic lesion was significantly related to poor overall survival in both, patients with synchronous metastasis, and metachronous metastasis. CONCLUSION: Our study indicates that patients developing distant metastasis after initial treatment show a different metastatic pattern and better oncologic outcomes, as compared to those presenting with distant metastasis. Resection with tumor free margins significantly improves survival in patients with metachronous as well as synchronous metastasis.
Colorectal Neoplasms* ; Humans ; Liver ; Lung ; Metastasectomy* ; Neoplasm Metastasis* ; Survival Rate

STUDY DESIGN: A retrospective study. OBJECTIVES: To compare the outcome of percutaneous vertebroplasty (VP), with kyphoplasty, in the treatment of osteoporotic painful vertebral compression fractures (VCF). SUMMARY OF LITERATURE REVIEW: There is much controversy relating to the treatment of painful osteoporotic VCF. Recent analytical data exists on VP and kyphoplasty. MATERIALS AND METHODS: A consecutive group of patients, undergoing VP and kyphoplasty at our institution, between July 2000 and November 2002, were retrospectively reviewed. A total of 23 patients underwent 25 VP procedures under local anesthesia, and 8 underwent 8 kyphoplasty procedures, 3 under general and 5 under local anesthesia. A radiological assessment was achieved by the percentage of height restored, using both the preoperative and postoperative radiographs. The Visual analog scale (VAS) scores, obtained pre and postoperatively were used for the clinical assessment. The activity levels were assessed preoperatively, after discharge and at the last follow up period, by the ambulatory stati. RESULTS: The VP restored 27.62% (anterior*) and 30.26% (middle**) of the lost height. The kyphoplasty restored 35.52% (anterior*) and 53.43% (middle**) of the lost height (P=0.3334*, P=0.0264**). The postoperative pain was improved in all patients after both procedures. The postoperative VAS score was 3.826 after the VP and 2.875 after the kyphoplasty (P=0.5647). The activity levels were improved in all patients after both procedures. CONCLUSIONS: The kyphoplasty was more efficient in restoring the middle vertebral body height than the VP in the treatment of osteoporotic painful VCF. However, both procedures showed similar clinical improvements in the pain and restoration of the anterior vertebral body height in the treatment of painful osteoporotic VCF. Both kyphoplasty and VP safely increased the vertebral body height, decreased the acute back pain and quickly returned geriatric patients to higher activity levels, resulting in an increased independence and quality of life.
Anesthesia, Local ; Back Pain ; Body Height ; Follow-Up Studies ; Fractures, Compression* ; Humans ; Kyphoplasty* ; Osteoporosis ; Pain, Postoperative ; Quality of Life ; Retrospective Studies ; Vertebroplasty* ; Visual Analog Scale