Clonal Analysis of Neurofibroma by PCR Amplification of HUMARA Gene

BACKGROUND: While neurofibromas have generally been regarded as polyclonal hyperplastic lesions, it remains unclear whether the tumor is a true neoplasm or a hyperplastic lesion. METHODS: Determination of clonality by X chromosome inactivation pattern was investigated in twenty-one cases of neurofibroma employing enzyme digestion and PCR of the HUMARA gene. The histological, immunohistochemical, and ultrastructural characteristics of the tumors were also examined. RESULTS: Immunohistochemically, most of the tumor cells showed vimentin and S-100 protein positivity. Axons were demonstrated by neurofilament protein positivity and were seen mainly at the periphery and rarely in the central portion of the tumor. Ultrastructurally, the tumors were composed of a variety of cell types: perineurial cells, Schwann cells, fibroblasts, and axons. X chromosome inactivation analysis was completed on thirteen out of fifteen cases in which DNA was successfully extracted. Of thirteen neurofibromas that were heterozygous at the HUMARA loci, eleven showed a polyclonal pattern. The remaining two cases were considered as indeterminate for clonality because of unequal band intensity and failure to obtain the normal control DNA. CONCLUSION: The results from this study suggest that neurofibromas are polyclonal in origin and might be a neoplastic lesion comprising non-neoplastic cells among constituent components.

Pattern of Exon Deletions of Dystrophin Gene in Korean Patients with Duchenne Muscular Dystrophy

OBJECTIVE: To investigate the pattern of exon deletions in Korean patients with Duchenne muscular dystrophy (DMD), and to find the correlation of the exon-deletion with clinical symptoms or laboratory findings. METHOD: Genomic DNA of the nine children with DMD were analyzed by the sets of multiplex PCR and one singlet PCR in total of fifteen primers of the dystrophin gene. The primers were made from the promotor, and the exons 3, 4, 6, 8, 12, 13, 43, 44, 47, 48, 50, 51, 52 and 60 of the dystrophin gene, respectively. RESULTS: Eight out of nine patients revealed exon deletions. The exon 3 was most commonly deleted (6 patients), and exon 48, 50 and 60 were second most common (2 patients). The exons 4, 6, 13, 44, 47 and 52 were not deleted in all patients. CONCLUSION: We found that the exons 3, 48, 50 and 60 are frequently deleted in Korean patients with DMD. The pattern of deletion was not correlate with clinical symptoms or laboratory findings.

The Association of Obesity with Knee Osteoarthritis in a Rural Population

OBJECTIVE: To investigate the cross-sectional association of the obesity with the knee osteoarthritis (OA) in a rural population. METHOD: We studied the cross-sectional asssociation between the obesity and the knee OA by analysis of data (Juam-Study based data) from an epidemiologic survey of a population of 1,100 adults who resided around the Juam lake in Chonnam. The recruited sampling were 475 adults above 40 years old. We diagnosed knee OA by typical clinical features such as bony swelling, crepitus and pain on movement and divided the subjects into non-OA group (143 males:148 females) and OA group (60 males:124 females). There is no difference in the mean ages of two groups. The body mass index (BMI) was calculated from a weight and height (kg/m2) and body fat percent (BFP) was measured by bioelectric impedance fatness analyzer (BIA). We defined obesity as a BMI over 30 kg/m2 in both sex or a BFP over 25% in male and over 30% in female. The BMI and BFP were 23.2 +/- 3.2 kg/m2, 24.0 +/- 7.5% in non-OA group and 23.5 +/- 3.4 kg/m2, 26.0 +/- 7.0% in OA group and were compared in two groups. RESULTS: 1) Prevalence odds ratio (POR) for risk factors of knee OA was high in seventh decade, female, a high cholesterol group, and a high BFP group, and was not high in BMI group. 2) There was no association between BMI and knee OA. 3) There was no association between BFP and knee OA. CONCLUSION: We were not able to prove the cross-sectional association between obesity and knee OA. The results suggested that knee OA was a heterogeneous disorder and more possibly influenced by multiple other factors, such as age, sex, and various metabolic abnormalities than obesity itself.

Clinical Features and Long-term Outcome of Lower Extremity Amputees: A Follow-up Questionnaire Study in Three Regional Centers

OBJECTIVE: To evaluate the clinical features of lower extremity amputees and the process of prosthetic fitting and its use at follow up and to know the effects of prosthetic rehabilitation on adaptation to prosthesis and its long-term use. METHOD: One hundred and twenty four patients who underwent amputation surgery in 3 major hospitals in Korea from 1990 to 1997 were enrolled. They were evaluated by reviewing of medical records for anthropometry, level of amputation, causes of amputation, other coincidental medical problems, general physical states and followed up by telephone and mail questionnaire with respect to general outcome, prosthetic fitting, satisfaction of prosthesis, state of prosthetic use, functional state of prosthetic ambulation. RESULTS: The most common cause of amputation was trauma. The mean time to fit the prosthesis was 4.1 months and only 38 patients was supervised by rehabilitation programs. The patients who were supervised by rehabilitation program were fitted and able to ambulate significantly earlier than those who were not. They wore and used prosthesis significantly more often than those who were not supervised. The patients with above knee amputation who were supervised were significantly independent with walking aids. CONCLUSION: Rehabilitation training program enables amtupees to be fitted and walk earlier with prosthesis. Also, this program lowered the dependency on walking aids in above knee amputees.

"Mirror-Writing" in the Traumatic Brain-Injured Patient without Specific MRI Findings

Mirror writing is script that runs in the direction opposite to normal, with individual letters also reversed. A Right handed woman suddenly developed mirror-writing. After traumatic brain injury without definitive lesions on MRI, she could not discriminate between right and left by herself. Several theories, including motor, visual dominance, spatial disorientation and supplementary motor hypotheses, have been proposed to explain such. We believe that availability of mirror engrams induce reversal of normal left-to-right writing pattern including mirror-writings.

Effect of Methylphenidate on Cognitive Function of Brain Injured Patient: Report of 5 cases

Outcome following brain injury is influenced by several factors, including on early medical and rehabilitative intervention, an integrated interdisciplinary team approach to treatment, and the patient's motivation and ablility to cooperate in rehabilitation efforts. Methylphenidate(MP) is a central stimulant that blocks the reuptake of serotonin and norepinephrine, and also it has a dopaminergic activity by releasing the dopamine from dopamine stored vesicles. Dopamine plays an important role in cognitive and affective brain functions. Methylphenidate has been used in an attention deficit disorder with hyperactivity in the pediatric clinic and for various types of depression and narcolepsy. Clinical research has not irreputably proved or disproved the effectiveness of MP for the improvement of cognitive function in brain injured patients. This report presents five cases who were treated by MP for the improvement of cognitive function in brain injured patients. Among five cases, 3 cases suffered from hemorrhagic strokes and 2 cases from tranmatic brain injuries. Three cases were in drowsy stateand 2 cases were semicomatous. After MP(10 mg) was ingested per oral route before breakfast, we evaluated patients' cognitive function by the Functional Independence Measure(FIM), Rappaport Disability Rating Scale(DRS), Mimi-mental State Examination(MMSE), Galveston Orientation and Amnesia Test(GOAT) and the clinical state as well as side effects. Based on the results from the study we suggest cautionally that MP would be useful for the treatment of brain injured pateints who had decreased cognitive function to induce an early participation of rehabilitation programs. Further prospective study is required with a large control group and affected group, to confirm our preliminary results.

Measurement of Skin Temperature Alteration Caused by Smoking Using Digital Infrared Thermal Imaging

Digital infrared thermal imaging(DITI) has been proposed as a diagnostic aid in patient with many disease entities, such as the cardiovascular, the neurologic, the musculoskeletal diseases and so on. Supporters of thermography state that normal patients have the normal thermograms and abnormal patients have the abnormal thermograms. The purpose of this study was to determine how much a cigarette will affect skin temperature change in the course of normal day's smoking. Twenty one healthy smokers(mean age, 27.4+/-5.1 years old) and fourteen nonsmokers(mean age, 24.4+/-1.6 years old) took parts in the study. All were male. The cigarette consumption averaged 14.0 per day. Smokers maintained their smoking habit in the ambient temperature before on initial measurement and smoked a cigarette in the controlled laboratory room. Measurements were taken for 5 minutes, 1 hour and 2 hours afterward. The skin temperature of the face, the both palms and the both soles was measured using Dorex digital infrared thermal imaging system. In all sessions, the skin temperature was higher on the face and lower on the sole. There were no significant differences of skin temperature on both sides of body in all subjects(p>0.05). The skin temperature of all measured parts was significantly lower in the smoking group before and 5 minutes after smoking(p0.01).

Spontaneous Thoracolumbar Spinal Cord Infarction: A case report

Vascular disease of the spinal cord occurs less frequently than of the brain, and its incidence is not known. Case reports of spinal cord infarction are uncommon, especially ones with spontaneous causes. We experienced one case with a spontaneous spinal cord infarction in the territory of the Adamkiewicz artery. In this case, the clinical pictures were characterized by sudden onset of paraplegia, bilateral radicular pain, dissociated sensory loss below the level of infarction and sphincter dysfunction. Neuroradiological investigation and CSF analysis ruled out compressive or infectious lesions. Selective spinal angiography revealed an occlusion of the Adamkiewicz artery. The patient had a substantial recovery over a period of weeks with intensive rehabilitation treatments.