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

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

STUDY DESIGN: A retrospective study. OBJECTIVES: To verify the advantages of adding gentle reduction and posterior lumbar interbody fusion (PLIF), using a cage to the usual posterolateral fusion (PLF), with pedicle screw instrumentation, in the surgical treatment of spinal stenosis with isthmic spondylolisthesis. SUMMARY OF LITERATURE REVIEW: The stabilization of isthmic spondylolisthesis, following decompression, is difficult. The PLIF, with a cage, offers anterior column support, reduction and a broad fusion base. MATERIALS AND METHODS: 31 patients were treated with wide decompression, pedicle screws fixation, PLF and PLIF, and followed up for more than 1 year. The degrees of slippage were grades I and II in 20 and 11 patients, respectively. The grade I patients were treated with gentle reduction of the slippage in the disc space, using a leverage maneuver with a Cobb's spinal elevator. The grade II patients were treated with the insertion of a pedicle screws, fixation of rods, reduction and distraction, and then insertion of a cage. After the procedure all the patients were evaluated for the reduction of spondylolisthesis, restoration of the disc space, radiological bony union and clinical results. RESULTS: Ninety percent of the patients were rated as excellent or good. Fusion of the PLIF occurred in all patients. The average reduction in the spondylolisthesis was 42.6 and 47.8% in the grade I and II patients, respectively. The average restorations of the disc spaces were 46.9 and 100.2% in the grade I and II patients, respectively. The maintenance of the reduction and disc height were excellent in the final follow-up radiographs. CONCLUSIONS: Adding gentle reduction and PLIF, using a cage, to the usual posterolateral fusion, with pedicle screw instrumentation, in the surgical treatment of spinal stenosis, with isthmic spondylolisthesis, showed satisfactory results in the reduction of the spondylolisthesis, the restoration of the disc height, the bony union and clinically.
Decompression* ; Elevators and Escalators ; Follow-Up Studies ; Humans ; Retrospective Studies ; Spinal Stenosis ; Spondylolisthesis*

No abstract available.
Compliance* ; Early Detection of Cancer* ; Family Practice* ; Humans

OBJECTIVES: To investigate the work-relation of the asthma of a 51-year old aircraft maintenance worker and his working environment METHODS: For 2 weeks, the patient went back into his workplace. The pulmonary function test including FEV1 was performed every other day morning in the hospital and peak expiratory flow rate(PEFR) self-monitoring was done 6 times a day. RESULTS: The patient has been worked as aircraft maintenance worker in line maintenance department since 1968. The pulmonary function test(PFT) with bronchodilator confirmed the asthma of the patient. He showed positive response to 2-weeks workplace challenge test. On 3rd day after stopping challenge exposure, FEV 1.0 was 1.04 L(55 % of baseline measurement). The result of PEFR self-monitoring showed progressively deteriorating pattern, baseline PEFR was 6.02 L/min but PEFR on 3rd day after stopping exposure was 2.43 L/min. CONCLUSIONS: The present case could be occupational asthma based on positive results of PEFR monitoring. Further research will be needed to find the specific agent to cause asthma in aircraft maintenance workers exposed to aviation fuel and jet stream exhausts.
Aircraft ; Asthma* ; Asthma, Occupational ; Aviation ; Formaldehyde ; Humans ; Kerosene ; Middle Aged ; Peak Expiratory Flow Rate ; Respiratory Function Tests ; Rivers