BACKGROUND: Recently a non-Jewish German family with writer's cramp was reported to have DYT1 mutation, expanding the phenotypic spectrum of DYT1. Although functional brain surgery has been tried for generalized dystonia, surgical outcome in focal dystonia patients with DYT1 mutation has not yet been reported. We investigated the clinical features and response to thalamotomy in familial writer's cramp with DYT1 mutation. METHODS: Family members were examined and clinically affected cases were video-taped. For the detection of DYT1 mutation, PCR-RFLP(restriction fragment length polymorphism) and heteroduplex analyses were performed as screening tests. Additional DNA sequencing was performed for the proband case to confirm the GAG deletion. RESULTS: Among this clinically homogeneous non-Jewish Korean family, five members in three generations were affected. Age of onset ranged from 7 to 20 years. Writing difficulty was the initial and the main disabling problem for all the affected individuals. All had the bilateral writer's cramp in succession. Dystonia remained focal and task-specific for the entire period after onset. Unilateral thalamotomy was performed in three patients, with remarkable improvement. Surgical benefit remained unchanged during the follow-up period of 6-8 years. DYT1 mutation cosegregated with the affected members. CONCLUSIONS: This study adds another evidence that DYT1 phenotype can present with purely focal and task-specific dystonia in all the affected members of a family. Marked and sustained improvement following thalamotomy in three of our patients suggests that stereotaxic thalamotomy is beneficial in familial focal dystonia with DYT1 mutation. (J Korean Neurol Assoc 19(2):110~115, 2001)
Age of Onset ; Brain ; Dystonia ; Dystonic Disorders* ; Family Characteristics ; Follow-Up Studies ; Heteroduplex Analysis ; Humans ; Mass Screening ; Phenotype ; Sequence Analysis, DNA ; Writing

BACKGROUND: Recently a non-Jewish German family with writer's cramp was reported to have DYT1 mutation, expanding the phenotypic spectrum of DYT1. Although functional brain surgery has been tried for generalized dystonia, surgical outcome in focal dystonia patients with DYT1 mutation has not yet been reported. We investigated the clinical features and response to thalamotomy in familial writer's cramp with DYT1 mutation. METHODS: Family members were examined and clinically affected cases were video-taped. For the detection of DYT1 mutation, PCR-RFLP(restriction fragment length polymorphism) and heteroduplex analyses were performed as screening tests. Additional DNA sequencing was performed for the proband case to confirm the GAG deletion. RESULTS: Among this clinically homogeneous non-Jewish Korean family, five members in three generations were affected. Age of onset ranged from 7 to 20 years. Writing difficulty was the initial and the main disabling problem for all the affected individuals. All had the bilateral writer's cramp in succession. Dystonia remained focal and task-specific for the entire period after onset. Unilateral thalamotomy was performed in three patients, with remarkable improvement. Surgical benefit remained unchanged during the follow-up period of 6-8 years. DYT1 mutation cosegregated with the affected members. CONCLUSIONS: This study adds another evidence that DYT1 phenotype can present with purely focal and task-specific dystonia in all the affected members of a family. Marked and sustained improvement following thalamotomy in three of our patients suggests that stereotaxic thalamotomy is beneficial in familial focal dystonia with DYT1 mutation. (J Korean Neurol Assoc 19(2):110~115, 2001)
Age of Onset ; Brain ; Dystonia ; Dystonic Disorders* ; Family Characteristics ; Follow-Up Studies ; Heteroduplex Analysis ; Humans ; Mass Screening ; Phenotype ; Sequence Analysis, DNA ; Writing

PURPOSE: The aim of this study was to investigate how type I diabetes mellitus (T1D) affects the folliculogenesis and oocyte development, fertilization, and embryo development. MATERIALS AND METHODS: A comparative animal study was conducted using two different mouse models of T1D, a genetic AKITA model and a streptozotocin-induced diabetes model. Ovarian function was assessed by gross observation, immunoblot, immunohistochemistry, oocyte counting, and ELISA for serum hormones (insulin, anti-Mullerian hormone, estradiol, testosterone, and progesterone). Maturation and developmental competence of metaphase II oocytes from control and T1D animals was evaluated by immunofluorescent and immunohistochemical detection of biomarkers and in vitro fertilization. RESULTS: Animals from both T1D models showed increased blood glucose levels, while only streptozotocin (STZ)-injected mice showed reduced body weight. Folliculogenesis, oogenesis, and preimplantation embryogenesis were impaired in both T1D mouse models. Interestingly, exogenous streptozotocin injection to induce T1D led to marked decreases in ovary size, expression of luteinizing hormone/chorionic gonadotropin receptor in the ovaries, the number of corpora lutea per ovary, oocyte maturation, and serum progesterone levels. Both T1D models exhibited significantly reduced pre-implantation embryo quality compared with controls. There was no significant difference in embryo quality between STZ-injected and AKITA diabetic mice. CONCLUSION: These results suggest that T1D affects folliculogenesis, oogenesis, and embryo development in mice. However, the physiological mechanisms underlying the observed reproductive effects of diabetes need to be further investigated.
Animals ; Anti-Mullerian Hormone ; Biomarkers ; Blood Glucose ; Body Weight ; Corpus Luteum ; Diabetes Mellitus ; Diabetes Mellitus, Type 1 ; Embryonic Development ; Embryonic Structures ; Enzyme-Linked Immunosorbent Assay ; Estradiol ; Female ; Female ; Fertility ; Fertilization ; Fertilization in Vitro ; Gonadotropins ; Humans ; Immunohistochemistry ; Lutein ; Mental Competency ; Metaphase ; Mice ; Oocytes ; Oogenesis ; Ovary ; Pregnancy ; Progesterone ; Reproduction ; Streptozocin ; Testosterone

Stargardt-like macular dystrophy 4 (STGD4) is a rare macular dystrophy characterized by bull's eye atrophy of the macula and the underlying retinal pigment epithelium. Patients with STGD4 show decreased central vision, which often progresses to severe vision loss. The PROM1 gene encodes prominin-1, which is a 5-transmembrane glycoprotein also known as CD133 and is involved in photoreceptor disk morphogenesis. PROM1 mutations have been identified as genetic causes for STGD4 and other retinal degenerations such as retinitis pigmentosa. We report a case of STGD4 with a PROM1 p.R373C mutation in a Korean patient. Ophthalmic examinations of a 38-yr old man complaining of decreased visual acuity revealed bilateral atrophic macular lesions consistent with STGD4. Targeted exome sequencing of known inherited retinal degeneration genes revealed a heterozygous missense mutation c.1117C>T (p.R373C) of PROM1, which was confirmed by Sanger sequencing. To the best of our knowledge, this is the first case of a PROM1 mutation causing STGD4 in Koreans.
Atrophy ; Exome ; Glycoproteins ; Humans ; Macular Degeneration* ; Morphogenesis ; Mutation, Missense ; Retinal Degeneration ; Retinal Pigment Epithelium ; Retinitis Pigmentosa ; Visual Acuity

OBJECTIVE: To assess the clinical usefulness of computer- assisted line bisection task for the patients with sensory- attentional visuospatial neglect. METHOD: Forty patients with unilateral hemispheric stroke (25 right, 15 left) and 15 normal age-matched subjects participated in this study. Computer-assisted line bisection task (CALBT) was designed using modified Milner landmark test to assess the sensory-attentional aspect of visuospatial neglect. Accuracy of response and reaction time for the transected lines, and response rate for the bisected lines were measured. Correlation between the results of CALBT and conventional line bisection test and Albert test was evaluated. RESULTS: In patients with right hemispheric lesion, results of CALBT demonstrated shifting of attention to the right hemifield and neglect of the stimulus in the left hemifield. In contrast, patients with left hemispheric lesion showed significantly decreased attention to the right hemifield and shifting of attention to the left hemifield. Performances of CALBT correlated with the line bisection test, but not with the Albert test. CONCLUSION: Computed assisted line bisection task can be used for the quantitative assessment of the sensory attentional aspect of visuospatial attention in patients with unilateral neglect.
Humans ; Reaction Time ; Stroke

Choroideremia is a rare X-linked disorder causing progressive chorioretinal atrophy. Affected patients develop night blindness with progressive peripheral vision loss and eventual blindness. Herein, we report two Korean families with choroideremia. Multimodal imaging studies showed that the probands had progressive loss of visual field with characteristic chorioretinal atrophy, while electroretinography demonstrated nearly extinguished cone and rod responses compatible with choroideremia. Sanger sequencing of all coding exons and flanking intronic regions of the CHM gene revealed a novel small deletion at a splice site (c.184_189+3delTACCAGGTA) in one patient and a deletion of the entire exon 9 in the other. This is the first report on a molecular genetic diagnosis of choroideremia in Korean individuals. Molecular diagnosis of choroideremia should be widely adopted for proper diagnosis and the development of new treatment modalities including gene therapy.
Atrophy ; Blindness ; Choroideremia* ; Clinical Coding ; Diagnosis ; Electroretinography ; Exons ; Genetic Therapy ; Humans ; Introns ; Molecular Biology ; Multimodal Imaging ; Night Blindness ; Visual Fields

Rhabdomyosarcoma is a highly malignant soft tissue sarcoma that car arise in any site of the body containing striated muscle or its mesenchymal analgae. It is the most common childhood sarcoma with two peak age frequencies, one at ages 2 to 6, and one in the adolescence. The site, stage and extent of disease, and pathologic characteristics of the tumor contribute to prognostic factors that influence therapeutic decisions. The results of treatment of 52 patients with rhabdomyosarcoma, who were treated at Department of Radiation Oncology. Yonsei University College of Medicine, Yonsei Cancer Center from 1976 to 1987 were retrospectively analyzed. The most frequent clinical group and primary sites were IRS group III(57.7%) and head and neck (42.3%) including orbit (11.5%) and parameningeal region(13.5%). The overall and disease free 5 year survival rate of eligible 41 patients were 31.7%, 29.3%, respectively. The complete remission(CR) rate was 50% in clinical group III and 0% in IV. Primary tumors of the orbit, clinical group I and embryonal subtype had the best prognosis. The survival rate was improved by addition of chemotherapy to operation and radiation therapy.
Adolescent ; Drug Therapy ; Head ; Humans ; Muscle, Striated ; Neck ; Orbit ; Prognosis ; Radiation Oncology ; Retrospective Studies ; Rhabdomyosarcoma* ; Sarcoma ; Survival Rate

Objectives: To compare disc degeneration between the cervical and lumbar spine and to elucidate the patterns of degeneration according to the corresponding disc levels in the cervical and lumbar spine.Summary of Literature Review: Disc degeneration results from the aging process in the spine. However, the incidence of disc degeneration in the cervical and lumbar spine might differ due to anatomical differences Materials and Methods: We randomly selected 280 patients by age and sex among 6,168 patients who underwent cervical or lumbar spine magnetic resonance imaging combined with whole-spine T2 sagittal images from June 2006 to March 2012. We classified disc degeneration by the modified Matsumoto grading system and the Pfirrmann classification at 11 intervertebral disc levels from C2 to T1 and from L1 to S1. Results: There was no significant difference in disc degeneration between the cervical and lumbar spine in either grading system. No significant difference was found in the degree of disc degeneration between the lower two disc levels of the cervical spine and the lower two disc levels of the lumbar spine in either system (C5-C6, C6-C7, L4-L5, L5-S1). However, both grading systems showed more severe degeneration in upper two disc levels of the cervical spine than in the upper two disc levels of the lumbar spine (C2-C3, C3-C4, L1-L2, L2- L3). Conclusions There was a significant difference in disc degeneration between the upper two disc levels of the cervical and lumbar spine. Adjacent segmental degeneration after fusion surgery might reflect the natural history of the condition, not adjacent segmental problems.

PURPOSE: The association between tobacco smoking and thyroid cancer remains uncertain. We evaluated the associations of active and passive smokingwith the risk of papillary thyroid cancer (PTC), the most common type of thyroid cancer, and with the BRAF(V600E) mutation, the most common oncogenic mutation in PTC related to poor prognosis. MATERIALS AND METHODS: We conducted this study with newly diagnosed PTC patients (n=2,142) and community controls (n=21,420) individually matched to cases for age and sex. Information on active and passive smoking and potential confounders were obtained from structured questionnaires, anthropometric measurements, and medical records. BRAF(V600E) mutation status was assessed in PTC patients. We evaluated the associations of active and passive smoking with PTC and BRAF(V600E) mutation risk using conditional and unconditional logistic regression models, respectively. RESULTS: We did not find associations between exposure indices of active and passive smoking and PTC risk in both men and women, except for the association between current smoking and lower PTC risk. Cumulative smoking ≥ 20 pack-years was associated with lower BRAF(V600E) mutation risk in male PTC patients (odds ratio [OR], 0.55; 95% confidence interval [CI], 0.30 to 1.00). The CI for the association was wider in female PTC patients (OR, 0.23; 95% CI, 0.02 to 2.62), possibly owing to a smaller sample size in this stratum. CONCLUSION: We did not find consistent associations between active and passive smoking and PTC risk. Cumulative smoking ≥ 20 pack-years was associated with lower BRAF(V600E) mutation risk in male PTC patients.
Case-Control Studies ; Female ; Humans ; Logistic Models ; Male ; Medical Records ; Prognosis ; Sample Size ; Smoke ; Smoking ; Thyroid Gland ; Thyroid Neoplasms ; Tobacco Smoke Pollution

OBJECTIVE: To investigate the effects of robot-assisted gait therapy on locomotor recovery in hemiparetic patients after stroke. METHOD: Twenty five stroke patients were randomly divided into 2 groups. Robotic training group received 30 minutes of robot-assisted gait therapy, 3 times a week for 4 weeks, while control group received conventional gait training with same duration and frequency as robotic group. Outcome was measured using Motricity index, Fugl-Meyer assessment (FMA), function ambulation category, modified motor assessment scale, 10-meter gait speed, isometric torque, Ashworth scale, gait analysis, body tissue composition, and Beck's depression inventory (BDI). RESULTS: Robotic training group showed significant improvement in motor functions measured by Motricity Index, FMA, 10-meter gait speed, isometric torque of hip compared with the baseline and with those of control group. Ashworth scale of hip, BDI, and muscle mass showed significantly greater improvement in robotic training group than control group. In gait analysis, stride length of unaffected leg demonstrated significant improvement in robotic training group (p<0.05). CONCLUSION: The robot-assisted gait therapy with body weight-support is considered to facilitate locomotor recovery of the hemiparetic stroke patient.
Depression ; Gait ; Hip ; Humans ; Leg ; Muscles ; Stroke ; Torque ; Walking