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1.
Article in English | WPRIM | ID: wpr-914875

ABSTRACT

Background@#and Purpose This study aimed to identify the epidemiological features of Guillain-Barré syndrome (GBS) in the Korean population. @*Methods@#Patients with GBS were defined as those who were hospitalized with a primary diagnostic code of G61.0 on the Korean Classification of Disease in a department of neurology, rehabilitation medicine, or pediatrics. We evaluated the incidence and prevalence of GBS as well as physical disability, mortality, and cause of death in patients with GBS from 2002 to 2018 in the Korean population using the Korean National Health Insurance Service database. @*Results@#We identified 11,146 patients with GBS. The ratio of males to females was 1.48. The age-adjusted incidence rate per 100,000 persons increased steadily from 0.84 in 2002 to 1.68 in 2018, as did the age-adjusted prevalence rate per 100,000 persons, from 0.77 to 15.62. The incidence and prevalence of GBS increased with age, peaking at 70–79 years. Among 10,114 patients without physical disability at the time of GBS being diagnosed, 502 (5.0%) patients had moderate disability and 526 (5.2%) had severe disability by the end of the study period.A total of 1,221 (11.0%) patients with GBS died during the mean follow-up period of 17 years (2002–2019). There were 144 (1.3%) in-hospital deaths. @*Conclusions@#This was the first nationwide epidemiological study of patients with GBS covering the entire population including patients of all ages in the Republic of Korea. We have revealed the seasonality of admissions, disability, and long-term mortality rates in patients with GBS.

2.
Yonsei Medical Journal ; : 431-438, 2021.
Article in English | WPRIM | ID: wpr-904263

ABSTRACT

Purpose@#AGel amyloidosis is systemic amyloidosis caused by pathogenic variants in the GSN gene. In this study, we sought to characterize the clinical and brain magnetic resonance image (MRI) features of Korean patients with AGel amyloidosis. @*Materials and Methods@#We examined 13 patients with AGel amyloidosis from three unrelated families. Brain MRIs were performed in eight patients and eight age- and sex-matched healthy controls. Therein, we analyzed gray and white matter content using voxel-based morphometry (VBM), tract-based spatial statistics (TBSS), and FreeSurfer. @*Results@#The median age at examination was 73 (interquartile range: 64–76) years. The median age at onset of cutis laxa was 20 (interquartile range: 15–30) years. All patients over that age of 60 years had dysarthria, cutis laxa, dysphagia, and facial palsy. Two patients in their 30s had only mild cutis laxa. The median age at dysarthria onset was 66 (interquartile range: 63.5–70) years. Ophthalmoparesis was observed in three patients. No patient presented with muscle weakness of the limbs. Axial fluid-attenuated inversion recovery images of the brain showed no significant differences between the patient and control groups. Also, analysis of VBM, TBSS, and FreeSurfer revealed no significant differences in cortical thickness between patients and healthy controls at the corrected significance level. @*Conclusion@#Our study outlines the clinical manifestations of prominent bulbar palsy and early-onset cutis laxa in 13 Korean patients with AGel amyloidosis and confirms that AGel amyloidosis mainly affects the peripheral nervous system rather than the central nervous system.

3.
Article in Korean | WPRIM | ID: wpr-901006

ABSTRACT

Purpose@#To report a case of actinomycosis infection originating in the orbitonasal cavity that quickly invaded the cerebrum.Case summary: A-57-year-old male with a history of right tooth extraction 7 days before the first visit presented with right eyelid swelling and pain that had developed 4 days prior to the visit and had become increasingly worse. The best-corrected visual acuity was light perception. The intraocular pressure of the patient was 37 mmHg in the right eye. Eyelid abscess, subconjunctival hemorrhage, and severe chemosis was observed. Orbital computed tomography showed multiple air pockets and enhancing soft tissue along the periorbital, maxillary, and ethmoid sinus. Emergent endoscopic sinus surgery, lateral canthotomy, and intravenous antifungal treatment were performed due to suspicion of mucormycosis infection. Two days after treatment, exenteration combined with otolaryngology and neurosurgery were performed, as brain magnetic resonance imaging scans indicated that intraorbital lesions had invaded the dura and frontal sinus. On Day 8 of treatment, Actinomyces odontolyticus was identified and intravenous Ampicillin was administered. Despite systemic antibiotic treatment, the infection could not be controlled. The patient died 28 days after treatment due to persistent intracranial hemorrhage and brain edema. @*Conclusions@#For patients with severe eyelid swelling with a history of tooth extraction, actinomycosis infection should be considered. Delays in diagnosis and treatment of this infection could lead to serious consequences.

4.
Article in Korean | WPRIM | ID: wpr-900921

ABSTRACT

With the rapid increase in the number of clinical trials in myopathy over the past decade, there is an increasing need for clinical scales to reflect patient’s clinical status. This article outlines the process of identifying possible measures. Detailed consideration has been given to key measures of muscle strength, function, and disability. As well as the usual assessment of the validity and reliability of the measures, three key characteristics were identified as necessary to the assessment of clinical scales used in health care: 1) the type of scale; 2) the clinical significance of the property being measured; and 3) the mathematical properties of the data. Consideration of such aspects facilitates the choice of clinical scales and the interpretation of data.

5.
Article in English | WPRIM | ID: wpr-899152

ABSTRACT

Background@#and PurposePathogenic variants in B4GALNT1 have been reported to cause hereditary spastic paraplegia 26. This study has revealed that a novel compound heterozygous pathogenic variant in B4GALNT1 is associated with axonal Charcot-Marie-Tooth disease (CMT). @*Methods@#Whole-exome sequencing (WES) was used to identify the causative factors and characterize the clinical features of a Korean family with sensorimotor polyneuropathy. Functional assessment of the mutant genes was performed using a motor neuron cell line. @*Results@#The WES revealed a compound heterozygous pathogenic variant (c.128dupC and c.451G>A) in B4GALNT1 as the causative of the present patient, a 53-year-old male who presented with axonal sensorimotor polyneuropathy and cognitive impairment without spasticity. The electrodiagnostic study showed axonal sensorimotor polyneuropathy. B4GALNT1 was critical to the proliferation of motor neuron cells. The compensation assay revealed that the pathogenic variants might affect the enzymatic activity of B4GALNT1. @*Conclusions@#This study is the first to identify a case of autosomal recessive axonal CMT associated with a compound heterozygous pathogenic variant in B4GALNT1. This finding expands the clinical and genetic spectra of peripheral neuropathy.

6.
Yonsei Medical Journal ; : 431-438, 2021.
Article in English | WPRIM | ID: wpr-896559

ABSTRACT

Purpose@#AGel amyloidosis is systemic amyloidosis caused by pathogenic variants in the GSN gene. In this study, we sought to characterize the clinical and brain magnetic resonance image (MRI) features of Korean patients with AGel amyloidosis. @*Materials and Methods@#We examined 13 patients with AGel amyloidosis from three unrelated families. Brain MRIs were performed in eight patients and eight age- and sex-matched healthy controls. Therein, we analyzed gray and white matter content using voxel-based morphometry (VBM), tract-based spatial statistics (TBSS), and FreeSurfer. @*Results@#The median age at examination was 73 (interquartile range: 64–76) years. The median age at onset of cutis laxa was 20 (interquartile range: 15–30) years. All patients over that age of 60 years had dysarthria, cutis laxa, dysphagia, and facial palsy. Two patients in their 30s had only mild cutis laxa. The median age at dysarthria onset was 66 (interquartile range: 63.5–70) years. Ophthalmoparesis was observed in three patients. No patient presented with muscle weakness of the limbs. Axial fluid-attenuated inversion recovery images of the brain showed no significant differences between the patient and control groups. Also, analysis of VBM, TBSS, and FreeSurfer revealed no significant differences in cortical thickness between patients and healthy controls at the corrected significance level. @*Conclusion@#Our study outlines the clinical manifestations of prominent bulbar palsy and early-onset cutis laxa in 13 Korean patients with AGel amyloidosis and confirms that AGel amyloidosis mainly affects the peripheral nervous system rather than the central nervous system.

7.
Article in Korean | WPRIM | ID: wpr-893302

ABSTRACT

Purpose@#To report a case of actinomycosis infection originating in the orbitonasal cavity that quickly invaded the cerebrum.Case summary: A-57-year-old male with a history of right tooth extraction 7 days before the first visit presented with right eyelid swelling and pain that had developed 4 days prior to the visit and had become increasingly worse. The best-corrected visual acuity was light perception. The intraocular pressure of the patient was 37 mmHg in the right eye. Eyelid abscess, subconjunctival hemorrhage, and severe chemosis was observed. Orbital computed tomography showed multiple air pockets and enhancing soft tissue along the periorbital, maxillary, and ethmoid sinus. Emergent endoscopic sinus surgery, lateral canthotomy, and intravenous antifungal treatment were performed due to suspicion of mucormycosis infection. Two days after treatment, exenteration combined with otolaryngology and neurosurgery were performed, as brain magnetic resonance imaging scans indicated that intraorbital lesions had invaded the dura and frontal sinus. On Day 8 of treatment, Actinomyces odontolyticus was identified and intravenous Ampicillin was administered. Despite systemic antibiotic treatment, the infection could not be controlled. The patient died 28 days after treatment due to persistent intracranial hemorrhage and brain edema. @*Conclusions@#For patients with severe eyelid swelling with a history of tooth extraction, actinomycosis infection should be considered. Delays in diagnosis and treatment of this infection could lead to serious consequences.

8.
Article in Korean | WPRIM | ID: wpr-893217

ABSTRACT

With the rapid increase in the number of clinical trials in myopathy over the past decade, there is an increasing need for clinical scales to reflect patient’s clinical status. This article outlines the process of identifying possible measures. Detailed consideration has been given to key measures of muscle strength, function, and disability. As well as the usual assessment of the validity and reliability of the measures, three key characteristics were identified as necessary to the assessment of clinical scales used in health care: 1) the type of scale; 2) the clinical significance of the property being measured; and 3) the mathematical properties of the data. Consideration of such aspects facilitates the choice of clinical scales and the interpretation of data.

9.
Article in English | WPRIM | ID: wpr-891448

ABSTRACT

Background@#and PurposePathogenic variants in B4GALNT1 have been reported to cause hereditary spastic paraplegia 26. This study has revealed that a novel compound heterozygous pathogenic variant in B4GALNT1 is associated with axonal Charcot-Marie-Tooth disease (CMT). @*Methods@#Whole-exome sequencing (WES) was used to identify the causative factors and characterize the clinical features of a Korean family with sensorimotor polyneuropathy. Functional assessment of the mutant genes was performed using a motor neuron cell line. @*Results@#The WES revealed a compound heterozygous pathogenic variant (c.128dupC and c.451G>A) in B4GALNT1 as the causative of the present patient, a 53-year-old male who presented with axonal sensorimotor polyneuropathy and cognitive impairment without spasticity. The electrodiagnostic study showed axonal sensorimotor polyneuropathy. B4GALNT1 was critical to the proliferation of motor neuron cells. The compensation assay revealed that the pathogenic variants might affect the enzymatic activity of B4GALNT1. @*Conclusions@#This study is the first to identify a case of autosomal recessive axonal CMT associated with a compound heterozygous pathogenic variant in B4GALNT1. This finding expands the clinical and genetic spectra of peripheral neuropathy.

10.
Article in Korean | WPRIM | ID: wpr-917945

ABSTRACT

Anti-3-hydroxy-3-methylglutaryl coenzyme A reductase (anti-HMGCR) antibody related immune-mediated necrotizing myopathy (IMNM) are usually associated with statin use. The disease has features of persistent muscle weakness and creatine kinase (CK) elevation after statin discontinuation. This report describes a 65-year-old female taking atorvastatin, presenting with both proximal lower extremity weakness. IMNM feature were detected on muscle biopsy and high anti-HMGCR autoantibody titer on enzyme-linked immunosorbent assay (ELISA). This patient was treated with corticosteroid. Muscle weakness and CK are improved after immunosuppressive therapy.

11.
Yonsei Medical Journal ; : 95-98, 2021.
Article in English | WPRIM | ID: wpr-875597

ABSTRACT

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by weakness of facial, shoulder, abdominal, hip girdle, humeral, and anterior distal leg muscles, with descending progression from the face to the legs in an asymmetric pattern. In about 5% of patients with FSHD, no D4Z4 repeat contraction on chromosome 4q35 is observed;this disease entity is called FSHD2. FSHD2 is characterized by DNA hypomethylation on the 4q-subtelomeric macrosatellite repeat array D4Z4. In Korea, there have been no previous reports of FSHD2. We report the first two cases of FSHD2 in Korea, carrying c.3801delG and c.1580C>T mutations in the SMCHD1 gene, respectively. For rapid and accurate diagnosis of FSHD2, genetic analysis of the D4Z4 haplotype and methylation with next-generation sequencing are required.

12.
Article | WPRIM | ID: wpr-834997

ABSTRACT

Background@#We sought to determine whether there was a difference in the posterior condylar offset (PCO), posterior condylar offset ratio (PCOR) and clinical outcomes following total knee arthroplasty (TKA) with anterior referencing (AR) or posterior referencing (PR) systems. We also assessed whether the PCO and PCOR changes, as well as patient factors were related to range of motion (ROM) in each referencing system. @*Methods@#This retrospective study included 130 consecutive patients (184 knees) with osteoarthritis who underwent primary posterior cruciate ligament (PCL)-substituting fixed-bearing TKA. The difference between preoperative and postoperative PCO and PCOR values were calculated. Clinical outcomes including ROM and Western Ontario and McMaster University (WOMAC) scores were evaluated. Furthermore, multiple linear regression analysis was performed to determine the factors related to postoperative ROM in each referencing system. @*Results@#The postoperative PCO was greater in the AR group (28.4 mm) than in the PR group (27.4 mm), whereas the PCO was more consistently preserved in the PR group. The mean postoperative ROM after TKA was greater in the AR group (129°) than in the PR group (122°), whereas improvement in WOMAC score did not differ between the two groups. Preoperative ROM was the only factor related to postoperative ROM in both groups. @*Conclusions@#There was no difference in postoperative PCO in AR and PR group and the PCO was not associated with postoperative ROM. PCO was more consistently preserved after surgery in the PR group. The postoperative PCO and PCOR changes did not affect the postoperative ROM. Furthermore, similar clinical outcomes were achieved in the AR and PR groups.

13.
Article | WPRIM | ID: wpr-833268

ABSTRACT

Purpose@#To investigate the incidence and risk factors for the ptosis after trabeculectomy. @*Methods@#We retrospectively analyzed the medical records of 94 patients who underwent trabeculectomy by a single surgeon. Patients with previous eyelid surgery and ophthalmic surgery, as well as those with systemic disease affecting the eyelid, were excluded from the study. Ptosis was defined as higher eyelid crease compared with contralateral eyelid or a ≥2 mm reduction of margin reflex distance-1 after the surgery. Age, sex, bleb location, conjunctival incision site, mitomycin C concentration, range of mitomycin C contact area, and soaking time were analyzed. @*Results@#The incidence of ptosis was 19.1% (18/94) at 6 months after trabeculectomy. There were no statistically significant relationships between postoperative ptosis and the following factors: age, sex, surgical site, bleb site, and conjunctival incision site. The incidence of ptosis was significantly higher in the 0.04% mitomycin C group than in the 0.02% mitomycin C group (40.0% vs 11.6%, p = 0.002). The incidence of ptosis was significantly higher in eyes with a large contact area of mitomycin C to the posterior part of the eye, compared to eyes with a smaller contact area (44.4% vs 9.0%, p < 0.001). Logistic regression analysis showed that the range of mitomycin C contact area remained statistically significant. @*Conclusions@#The large contact area of mitomycin C to the posterior part of the eye during trabeculectomy was found to be a risk factor for postoperative ptosis.

14.
Article | WPRIM | ID: wpr-833215

ABSTRACT

Purpose@#To determine the efficacy of tear varicella zoster virus polymerase chain reaction (VZV PCR) results for the occurrenceof ocular symptoms in patients diagnosed with herpes zoster ophthalmicus (HZO), as compared to Hutchinson’s sign, and to determinethe relationship between recurrence of HZO and VZV PCR results. @*Methods@#We conducted a retrospective analysis using medical records from 69 patients diagnosed with HZO from February2015 to June 2018. We investigated whether Hutchinson’s sign and VZV PCR results were correlated with the occurrence of ocularsymptoms and recurrence of HZO. @*Results@#Of the 69 patients, 51 patients (73%) had ocular symptoms and 45 patients (65.2%) had conjunctivitis as the most commonocular symptom. There were correlations between Hutchinson’s sign and the occurrence of ocular symptoms, and betweenVZV PCR and the occurrence of ocular symptoms (p = 0.047 and p = 0.005, respectively). The receiver operating characteristiccurve of Hutchinson’s sign and VZV PCR in ocular involvement of the area under the curve of the tear VZV PCR was larger thanHutchinson’s sign (VZV PCR = 0.72; Hutchinson’s sign = 0.63). Only keratouveitis was identified as a risk factor for recurrenceof HZO (odds ratio = 30.53; p = 0.033). There was no correlation between keratouveitis and recurrence of HZO (p > 0.05). @*Conclusions@#In patients with HZO, the tear VZV PCR may be as effective a predictor of ocular involvement as Hutchinson’s sign,and keratouveitis diagnosed at the initial visit was associated with the recurrence of HZO.

15.
Article in Korean | WPRIM | ID: wpr-766770

ABSTRACT

Congenital fiber type disproportion (CFTD) has been related with mutations in ACTA1, SEPN1, RYR1 and tropomyosin 3 (TPM3) genes. Particularly, TPM3 mutation was identified as one of the most frequent cause of CFTD and was also detected in cap myopathy and nemaline myopathy. Herein we report patients of autosomal dominant TPM3 missense mutations with CFTD in a Korean family over twogenerations. Two of our patients, who developed mild muscle weakness in infancy, presented with altered mentality and respiratory distress despite relatively mild limb weakness.


Subject(s)
Extremities , Humans , Muscle Weakness , Muscular Diseases , Mutation, Missense , Myopathies, Nemaline , Myopathies, Structural, Congenital , Respiratory Insufficiency , Ryanodine Receptor Calcium Release Channel , Tropomyosin
16.
Article in English | WPRIM | ID: wpr-761947

ABSTRACT

BACKGROUND: The utility of computed tomography (CT) in the differential diagnosis of patients with chronic obstructive pulmonary disease (COPD) exacerbation remains uncertain. However, due to the low cost associated with CT scan along with the impact of Koreas' health insurance system, there has been a rise in the number of CT scans in the patients with initial diagnosis of COPD exacerbations. Therefore, the utility of CT in the differential diagnosis was investigated to determine whether performing CT scans affect the clinical outcomes of the patients with an initial diagnosis of COPD exacerbation. METHODS: This study involved 202 COPD patients hospitalized with an initial diagnosis of COPD exacerbation. We evaluated the change in diagnosis or treatment after performing a CT scan, and compared the clinical outcomes of patient groups with vs. without performing CT (non-CT group vs. CT group). RESULTS: After performing CT, the diagnosis was changed for two (3.0%) while additional diagnoses were made for 27 of the 64 patients (42.1%). However, the treatment changed for only one (1.5%), and six patients (9.3%) received supplementary medication. There were no difference in the median length of hospital stay (8 [6–13] days vs. 8 [6–12] days, p=0.786) and intensive care unit care (14 [10.1%] vs. 11 [16.7%], p=0.236) between the CT and non-CT groups, respectively. These findings remained consistent even after the propensity score matching. CONCLUSION: Utility of CT in patients with acute COPD exacerbation might not be helpful; therefore, we do not recommend chest CT scan as a routine initial diagnostic tool.


Subject(s)
Diagnosis , Diagnosis, Differential , Disease Progression , Hospitalization , Humans , Insurance, Health , Intensive Care Units , Length of Stay , Propensity Score , Pulmonary Disease, Chronic Obstructive , Tomography, X-Ray Computed
17.
Article in English | WPRIM | ID: wpr-919443

ABSTRACT

BACKGROUND@#The utility of computed tomography (CT) in the differential diagnosis of patients with chronic obstructive pulmonary disease (COPD) exacerbation remains uncertain. However, due to the low cost associated with CT scan along with the impact of Koreas' health insurance system, there has been a rise in the number of CT scans in the patients with initial diagnosis of COPD exacerbations. Therefore, the utility of CT in the differential diagnosis was investigated to determine whether performing CT scans affect the clinical outcomes of the patients with an initial diagnosis of COPD exacerbation.@*METHODS@#This study involved 202 COPD patients hospitalized with an initial diagnosis of COPD exacerbation. We evaluated the change in diagnosis or treatment after performing a CT scan, and compared the clinical outcomes of patient groups with vs. without performing CT (non-CT group vs. CT group).@*RESULTS@#After performing CT, the diagnosis was changed for two (3.0%) while additional diagnoses were made for 27 of the 64 patients (42.1%). However, the treatment changed for only one (1.5%), and six patients (9.3%) received supplementary medication. There were no difference in the median length of hospital stay (8 [6–13] days vs. 8 [6–12] days, p=0.786) and intensive care unit care (14 [10.1%] vs. 11 [16.7%], p=0.236) between the CT and non-CT groups, respectively. These findings remained consistent even after the propensity score matching.@*CONCLUSION@#Utility of CT in patients with acute COPD exacerbation might not be helpful; therefore, we do not recommend chest CT scan as a routine initial diagnostic tool.

18.
Neurology Asia ; : 185-188, 2018.
Article in English | WPRIM | ID: wpr-732551

ABSTRACT

Colchicine-induced neuromyopathy is an extremely rare complication, and can develop in the setting of acute overdose or chronic administration in therapeutic doses. A 72-year-old man presented with proximal muscle weakness and myalgia. He had angina pectoris and Behçet’s disease, leading to the treatment of colchicine (1.2 mg daily for about 6 years), cyclosporine, methylprednisolone, simvastatin, and aspirin. A biceps brachii muscle biopsy was performed and electron microscopic examination revealed scattered autophagic vacuoles. He was initially treated with steroid pulse therapy. However, muscle weakness did not improve. After the discontinuation of colchicine, muscle power and myalgia improved steadily. There should be heightened awareness of colchicine-induced neuromyopathy because that clinical suspicion is the most important diagnostic clue, and termination of colchicine is the only treatment.

20.
Yonsei Medical Journal ; : 337-340, 2018.
Article in English | WPRIM | ID: wpr-713189

ABSTRACT

Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array. Recent studies revealed that the FAT1 expression is associated with disease activity of FSHD, and the FAT1 alterations result in myopathy with a FSHD-like phenotype. We describe a 59-year-old woman with both contracted D4Z4 repeat units and a FAT1 mutation. Shoulder girdle muscle weakness developed at the age of 56 years, and was followed by proximal leg weakness. When we examined her at 59 years of age, she displayed asymmetric and predominant weakness of facial and proximal muscles. Muscle biopsy showed increased variation in fiber size and multifocal degenerating fibers with lymphocytic infiltration. Southern blot analysis revealed 8 D4Z4 repeat units, and targeted sequencing of modifier genes demonstrated the c.10331 A>G variant in the FAT1 gene. This FAT1 variant has previously been reported as pathogenic variant in a patient with FSHD-like phenotype. Our study is the first report of a FAT1 mutation in a FSHD1 patient, and suggests that FAT1 alterations might work as a genetic modifier.


Subject(s)
Cadherins/genetics , Female , Humans , Magnetic Resonance Imaging , Middle Aged , Muscles/pathology , Muscular Dystrophy, Facioscapulohumeral/diagnostic imaging , Mutation/genetics , Phenotype
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