Background: and Purpose Spinocerebellar ataxias (SCAs) are the most common form of hereditary ataxias. Extracerebellar signs have been well described and are helpful in differentiating the SCA subtypes. However, there are few reports on the early-stage extracerebellar signs in various SCA subtypes. This study explored the clinical and magnetic resonance imaging (MRI) characteristics of early-stage SCAs in the Korean population. Methods: We retrospectively reviewed the medical records of genetically confirmed SCA patients with a disease duration of <5 years. Data on baseline characteristics, extracerebellar signs, and initial MRI findings were organized based on SCA subtypes. Results: This study included 117 SCA patients with a median age at onset of 40.6 years. The family history was positive in 71.8% of the patients, and the median disease duration and the score on the Scale for the Assessment and Rating of Ataxia at the initial visit were 2.6 years and 5.0, respectively. SCA3 was the most prevalent subtype, and oculomotor abnormalities were the most frequent extracerebellar signs in early-stage SCAs. Saccadic slowing was characteristic of SCA2 and SCA7, and gaze-evoked nystagmus was prominent in SCA6. Parkinsonism was relatively frequent in SCA8 and SCA3. Decreased visual acuity was specific for SCA7. Dementia was not an early manifestation of SCAs. Brain MRI revealed a pattern of pontocerebellar atrophy in SCA2 and SCA7, while SCA6 demonstrated only cerebellar cortical atrophy. Conclusions SCA patients exhibited diverse extracerebellar signs even in the early stage.Specific extracerebellar signs were characteristic of specific subtypes, which could facilitate differential diagnoses of early-stage SCAs.

Background: and Purpose Spinocerebellar ataxias (SCAs) are the most common form of hereditary ataxias. Extracerebellar signs have been well described and are helpful in differentiating the SCA subtypes. However, there are few reports on the early-stage extracerebellar signs in various SCA subtypes. This study explored the clinical and magnetic resonance imaging (MRI) characteristics of early-stage SCAs in the Korean population. Methods: We retrospectively reviewed the medical records of genetically confirmed SCA patients with a disease duration of <5 years. Data on baseline characteristics, extracerebellar signs, and initial MRI findings were organized based on SCA subtypes. Results: This study included 117 SCA patients with a median age at onset of 40.6 years. The family history was positive in 71.8% of the patients, and the median disease duration and the score on the Scale for the Assessment and Rating of Ataxia at the initial visit were 2.6 years and 5.0, respectively. SCA3 was the most prevalent subtype, and oculomotor abnormalities were the most frequent extracerebellar signs in early-stage SCAs. Saccadic slowing was characteristic of SCA2 and SCA7, and gaze-evoked nystagmus was prominent in SCA6. Parkinsonism was relatively frequent in SCA8 and SCA3. Decreased visual acuity was specific for SCA7. Dementia was not an early manifestation of SCAs. Brain MRI revealed a pattern of pontocerebellar atrophy in SCA2 and SCA7, while SCA6 demonstrated only cerebellar cortical atrophy. Conclusions SCA patients exhibited diverse extracerebellar signs even in the early stage.Specific extracerebellar signs were characteristic of specific subtypes, which could facilitate differential diagnoses of early-stage SCAs.

Although the KMT2B gene was identified as a causative gene for early-onset generalized dystonia, the efficacy of deep brain stimulation (DBS) in KMT2B-related dystonia has not been clearly elucidated. Here, we describe a 28-year-old woman who developed generalized dystonia with developmental delay, microcephaly, short stature, and cognitive decline. She was diagnosed with KMT2B- related dystonia using whole-exome sequencing with a heterozygous frameshift insertion of c.515dupC (p.T172fs) in the KMT2B gene. Oral medications and botulinum toxin injection were not effective. The dystonia markedly improved with bilateral pallidal DBS (the Burke-Fahn-Marsden Dystonia Rating Scale score was reduced from 30 to 5 on the dystonia movement scale and from 11 to 1 on the disability scale), and she could walk independently. From this case, we suggest that bilateral globus pallidus internus DBS can be an effective treatment option for patients with KMT2B-related generalized dystonia.

OBJECTIVE: Retinal artery occlusion (RAO) is rarely seen as a complication in patients undergoing carotid artery stenting (CAS); hence, its characteristics have not been documented in detail. This study aimed to investigate the incidence of this complication and the related risk factors, focusing on differences in ophthalmic artery (OA) supply (whether by the external or internal carotid artery [ECA or ICA]) prior to CAS procedures. MATERIALS AND METHODS: We retrospectively examined 342 patients who underwent CAS for severe and/or symptomatic carotid artery stenosis between January 2009 and December 2017. Cumulative medical records and radiologic data were assessed. RAO was confirmed by photography and fluorescent angiography of the fundus, which were performed by an ophthalmologist. In all patients, distal filter systems of various types were applied as cerebral protection devices (CPDs) during procedures. Univariate and multivariate analyses were conducted to identify the risk factors for RAO after CAS. RESULTS: Symptomatic RAO was observed in six patients (1.8%), of which five (6.8%) were ECA-dominant group members (n = 74). In a binary logistic regression analysis, OA supply by the ECA (odds ratio [OR], 9.705; 95% confidence interval [CI], 1.519–62.017; p = 0.016) and older age (OR, 1.159; 95% CI, 1.005–1.336; p = 0.041) were identified as significant risk factors in patients with RAO after CAS. ECA-supplied OA was also associated with the severity of ipsilateral ICA stenosis (p = 0.001) and ulcerative plaque (p = 0.021). CONCLUSION: In procedures performed using ICA distal filtering CPD systems, RAO as a complication of CAS (performed for severe stenosis) showed a relationship to ECA-supplied OA. For older patients, simultaneous use of ICA-ECA CPDs might help prevent such complications.
Angiography ; Angioplasty ; Carotid Arteries ; Carotid Artery, Internal ; Carotid Stenosis ; Constriction, Pathologic ; Humans ; Incidence ; Logistic Models ; Medical Records ; Multivariate Analysis ; Ophthalmic Artery ; Photography ; Retinal Artery Occlusion ; Retinal Artery ; Retinaldehyde ; Retrospective Studies ; Risk Factors ; Stents ; Ulcer

OBJECTIVE: Mirror aneurysms are generally considered as a subset of multiple aneurysms, defined as aneurysms occurring bilaterally and symmetrically on the same-named vessels. Although not infrequent, the characteristics of mirror aneurysms are not well studied. This investigation was conducted to elucidate the anatomic features of such lesions and examine treatment options. MATERIALS AND METHODS: A retrospective review was conducted, aimed at 172 patients treated for 344 mirror aneurysms between January 2007 and December 2015. Aneurysms of similar nature but in asymmetric locations on the same-named vessels were excluded. All available records were examined and lesion characteristics, as well as treatment outcomes were assessed. RESULTS: In study subjects (n = 172), mirror aneurysms most often involved middle cerebral artery bifurcation (n = 83), followed by a paraclinoid internal carotid artery (n = 50) and posterior communicating artery (n = 21). Most of the lesions (95.3%) measured ≤ 10 mm, and in 126 patients (74.6%), the size ratios were > 50%. Of the 344 aneurysms studied, coil embolization was undertaken in 217, surgical clipping in 62, and observation alone (no treatment) in 65. Coil embolization and surgical clipping were done bilaterally in 83 and 12 patients, respectively. In 12 patients, combined coiling and clipping were implemented on each side. Single-stage coil embolization of both the aneurysms was performed in 73 patients, with excellent post-procedural (85.6%) and follow-up (86.8%) occlusive results. There was no procedure-related morbidity or mortality. CONCLUSION: By adopting different treatment strategies to different configurations and vascular sources, mirror aneurysms can be safely and effectively treated. If feasible, single-stage coil embolization should be considered as a reasonable treatment option for mirror aneurysms.
Aneurysm* ; Arteries ; Carotid Artery, Internal ; Embolization, Therapeutic ; Follow-Up Studies ; Humans ; Middle Cerebral Artery ; Mortality ; Retrospective Studies ; Surgical Instruments

STUDY DESIGN: Case Report. OBJECTIVES: The aim of this study was to report 2 cases of calcified spinal meningioma that displayed differences in appearance during resection, and to review the current literature on calcified and ossified spinal meningiomas. SUMMARY OF LITERATURE REVIEW: Calcified and ossified spinal meningiomas are rare, and tumor calcification is a risk factor for poor neurological outcomes resulting from the additional manipulations required to dissect the tumor. MATERIALS AND METHODS: We describe the clinical course and intraoperative findings of 2 female patients who presented with symptoms of myelopathy. Magnetic resonance imaging showed calcified spinal meningiomas of the thoracic spine. The type of tumor resection performed was dependent on the solidity and texture of the individual tumors. RESULTS: Pathologic evaluation revealed psammoma bodies, which suggested calcified meningioma. The patients' neurologic symptoms resolved with no neurologic sequelae. CONCLUSIONS: Although there are a few pathologic differences regarding the main type and pathogenesis of ossified and calcified meningioma, both are thought to have a poor prognosis. For these tumors, adequately accounting for the expected poor prognosis and performing a wide laminectomy in order to ensure an adequate surgical margin are important factors for achieving a favorable outcome.
Female ; Humans ; Laminectomy ; Magnetic Resonance Imaging ; Meningioma* ; Neurologic Manifestations ; Prognosis ; Risk Factors ; Spinal Cord Diseases ; Spine

OBJECTIVE: To investigate the effect of extracorporeal shock wave therapy (ESWT) on painful stump neuroma. METHODS: Thirty patients with stump neuroma at the distal end of an amputation site were assigned randomly to the ESWT group (n=15) and the transcutaneous electrical nerve stimulation (TENS)+desensitization+pharmacological treatment group (n=15). For 3 weeks, the ESWT group received a weekly session involving 1,500 pulses at 0.10 mJ/mm2, while the control group was treated 10 times each, 40 minutes per day with TENS and desensitization treatment, and daily medication for 3 weeks. ESWT stimulation was given by focusing on the area at the neuroma site clearly identified by ultrasound. RESULTS: The changes in the McGill pain questionnaire were 38.8+/-9.0 prior to treatment and 11.8+/-3.1 following the treatment. The corresponding values for the control group were 37.2+/-7.7 and 28.5+/-10.3. The changes between groups were significantly different (p=0.035). The change in visual analog scale prior to and after treatment was 7.0+/-1.5 and 2.8+/-0.8 in the ESWT group, respectively, and 7.2+/-1.4 and 5.8+/-2.0 in the control group. These changes between the groups were also significantly different (p=0.010). The outcome in the pain rating scale also showed significant differences between groups (p<0.001). Changes in neuroma size and pain pressure threshold (lb/cm2) were not significantly different between groups (p>0.05). CONCLUSION: The study findings imply that ESWT for stump neuroma is superior to conventional therapy.
Amputation ; Amputation Stumps ; Humans ; Neuroma* ; Pain Measurement ; Shock* ; Transcutaneous Electric Nerve Stimulation ; Ultrasonography ; Visual Analog Scale

OBJECTIVES: To identify work-related musculoskeletal symptoms and any associated work-related risk factors, focusing on structural labor factors among hotel workers. METHODS: A total of 1,016 hotel workers (620 men and 396 women) were analyzed. The questionnaire surveyed participants' socio-demographics, health-related behaviors, job-related factors, and work-related musculoskeletal symptoms. Work-related musculoskeletal symptoms were assessed using the Nordic musculoskeletal questionnaire. All analyses were stratified by gender, and multiple logistic regression modeling was used to determine associations between work-related musculoskeletal symptoms and work-related risk factors. RESULTS: The risk of developing work-related musculoskeletal symptoms was 1.9 times higher among male workers in the kitchen department than males in the room department (OR = 1.92, 95% CI = 1.03-3.79), and 2.5 times higher among male workers with lower sleep satisfaction than those with higher sleep satisfaction (OR = 2.52, 95% CI = 1.57-4.04). All of the aforementioned cases demonstrated a statistically significant association with work-related musculoskeletal symptoms. Moreover, the risk of developing work-related musculoskeletal symptoms was 3.3 times higher among female workers aged between 30 and 34 than those aged 24 or younger (OR = 3.32, 95% CI = 1.56-7.04); 0.3 times higher among females in the back office department than those in the room department (OR = 0.34, 95% CI = 0.12-0.91); 1.6 times higher among females on shift schedules than those who were not (OR = 1.60, 95% CI = 1.02-2.59); 1.8 times higher among females who performed more intensive work than those who performed less intensive work (OR = 1.88, 95% CI = 1.17-3.02), and; 2.1 times higher among females with lower sleep satisfaction than those with higher sleep satisfaction (OR = 2.17, 95% CI = 1.34-3.50). All of the aforementioned cases also displayed a statistically significant association with work-related musculoskeletal symptoms. CONCLUSION: This study focused on structural risk factors in the working environment, such as the gender-based division of labor, shift work and labor intensity, that demonstrated a statistically significant correlation with the work-related musculoskeletal symptoms of hotel workers. Both men and women reported different prevalence rates of work-related musculoskeletal symptoms among different departments. This could indicate that a gender-based division of labor produces different ergonomic risk factors for each gender group. However, only females displayed a statistically significant correlation between shift work and labor intensity and musculoskeletal symptoms. Thus, minimizing ergonomic risk factors alone does not suffice to effectively prevent musculoskeletal diseases among hotel workers. Instead, work assignments should be based on gender, department, working hours and work intensity should be adjusted to address multi-dimensional musculoskeletal risk factors. In addition, an approach that seeks to minimize shift work is needed to reduce the incidence of musculoskeletal disorders.
Appointments and Schedules ; Female ; Humans ; Incidence ; Logistic Models ; Male ; Musculoskeletal Diseases ; Prevalence ; Risk Factors* ; Surveys and Questionnaires

OBJECTIVE: To understand the injury pattern of contact burns from therapeutic physical modalities. METHOD: A retrospective study was done in 864 patients with contact burns who discharged from our hospital from January 2005 to December 2008. The following parameters were compared between patients with contact burns from therapeutic modalities and from other causes: general characteristics, burn extent, cause of burn injury, place of occurrence, burn injury site, treatment methods, prevalence of underlying disease, and length of hospital stay were compared between patients with contact burns. RESULTS: Of the 864 subjects, 94 patients were injured from therapeutic modalities. A hot pack (n=51) was the most common type of therapeutic modality causing contact burn followed by moxibustion (n=21), electric heating pad (n=16), and radiant heat (n=4). The lower leg (n=31) was the most common injury site followed by the foot & ankle (n=24), buttock & coccyx (n=9), knee (n=8), trunk (n=8), back (n=6), shoulder (n=4), and arm (n=4). Diabetes mellitus was associated with contact burns from therapeutic modalities; the odds ratio was 3.99. Injuries took place most commonly at home (n=56), followed by the hospital (n=33), and in other places (n=5). CONCLUSION: A hot pack was the most common cause of contact burns from therapeutic modalities, and the lower leg was the most common injury site. Injuries took place most commonly at home. The patients with contact burns from therapeutic modalities showed high correlation to presence of diabetes mellitus. These results would be helpful for the prevention of contact burns due to therapeutic modalities.
Animals ; Ankle ; Arm ; Burns ; Buttocks ; Coccyx ; Diabetes Mellitus ; Foot ; Heating ; Hot Temperature ; Humans ; Hypogonadism ; Knee ; Leg ; Length of Stay ; Mitochondrial Diseases ; Moxibustion ; Odds Ratio ; Ophthalmoplegia ; Physical Therapy Modalities ; Prevalence ; Retrospective Studies ; Shoulder

OBJECTIVE: To investigate the effect of extracorporeal shock wave therapy (ESWT) on myofascial pain syndrome (MPS). METHOD: Thirty patients with MPS in trapezius muscle were randomly divided into two groups, ESWT group (n=15), and trigger point injections (TPI)+transcutaneous electrical nerve stimulation (TENS) group (n=15). For a total of 3 weeks, ESWT was undertaken with 1,500 pulse each time at one week interval totaling 4,500 pulse, TPI for once a week totaling three times and TENS for five times a week totaling three weeks. RESULTS: The changes in pain threshold (lb/cm2) showed the values of 6.86+/-1.35 before first therapy, 11.43+/-0.27 after first therapy, and 12.57+/-0.72 after third therapy, while TPI+TENS group showed the values of 6.20+/-1.92 before first therapy, 8.80+/-0.48 after first therapy, and 9.60+/-2.19 after third therapy, and the changes between the groups were significantly different (p=0.045). The changes in visual analog scale were estimated to be 6.86+/-0.90 before first therapy, 2.86+/-0.90 after first therapy, and 1.86+/-0.69 after third therapy in case of ESWT group, whereas the figures were estimated to be 7.20+/-1.30 before first therapy, 4.60+/-0.55 after first therapy, and 2.80+/-0.84 after third therapy in case of TPI+TENS group, and the changes between the groups were significantly different (p=0.010). The changes in McGill pain questionnaire (p=0.816) and pain rating scale (p=0.644) between the groups were not significantly different. The changes in neck ROM were also not significantly different between the groups (p>0.05). CONCLUSION: The ESWT in patients with MPS in trapezius muscle are as effective as TPI and TENS for the purpose of pain relief and improving cervical range of motion.
High-Energy Shock Waves ; Humans ; Myofascial Pain Syndromes ; Neck ; Pain Measurement ; Pain Threshold ; Range of Motion, Articular ; Shock ; Superficial Back Muscles ; Transcutaneous Electric Nerve Stimulation ; Trigger Points