Acute Neuromuscular Respiratory Failure / 대한신경근육질환학회지

Respiratory muscle weakness caused by neuromuscular disease can lead to both acute and chronic respiratory failure. Respiratory failure caused by Guillain-Barré syndrome and myasthenia gravis can potentially improve with disease-specific therapy. However, respiratory failure in amyotrophic lateral sclerosis is irreversible, and it may be necessary to provide full-time ventilation support along with additional assistance. Noninvasive ventilation is recommended for managing acute or acute-on-chronic hypercapnic respiratory failure caused by neuromuscular disease. It has also been effective in weaning patients off invasive mechanical ventilation. Although noninvasive ventilation offers numerous benefits over invasive mechanical ventilation, it is crucial to consider the specific contraindications and limitations of noninvasive ventilation and ensure its appropriate usage based on the patient's condition and needs. The timely recognition of neuromuscular respiratory failure is critical, as early intervention can be life-saving. This review focused on the clinical assessment and management of acute respiratory failure in neuromuscular diseases.

Clinical and Radiological Features of Korean Patients With Anti-HMGCR Myopathy

Background@#and Purpose To understand the characteristics of Korean patients with anti-3-hydroxy-3-methylglutaryl-coenxyme A reductase (HMGCR) myopathy, we measured antiHMGCR antibodies and analyzed the clinical, radiological, and pathological features of patients with anti-HMGCR myopathy. @*Methods@#We measured titers of anti-HMGCR antibodies in the sera of 99 patients with inflammatory myopathy, 36 patients with genetic myopathy, and 63 healthy subjects using an enzyme-linked immunosorbent assay. We tested 16 myositis-specific autoantibodies (MSAs) in all patients with anti-HMGCR myopathy. @*Results@#Positivity for the anti-HMGCR antibody was observed in 17 (4 males and 13 females) of 99 patients with inflammatory myopathy. The median age at symptom onset was 60 years.Ten (59%) of the patients with anti-HMGCR positivity had taken statins. The titer of antiHMGCR antibodies was significantly higher in the statin-naïve group (median=230 U/mL, interquartile range=170–443 U/mL) than in the statin-exposed group (median=178 U/mL, interquartile range=105–210 U/mL, p=0.045). The most common symptom was proximal muscle weakness in 15 patients (88%), followed by myalgia in 9 (53%), neck weakness in 4 (24%), dysphagia in 3 (18%), and skin lesions in 2 (12%). The median titer of anti-HMGCR antibody was 202 U/mL. We found eight different MSAs in nine (53%) patients. The median disease duration from symptom onset to diagnosis was significantly shorter in the MSA-positive group than in the MSA-negative group (p=0.027). @*Conclusions@#Our study was the first to measure anti-HMGCR antibodies in inflammatory myopathy. It has provided new findings, including the suggestion of the coexistence of other MSAs in Korean patients.

Isolated Unilateral Ptosis Caused by Idiopathic Orbital Myositis / 대한신경근육질환학회지

Idiopathic orbital myositis is considered as a subgroup of idiopathic orbital inflammatory disease. It is a non-infectious inflammatory disorder primarily affecting the extraocular muscles and causes various eye symptoms including pain, diplopia and limitation of extraocular movement. Cases of isolated ptosis by idiopathic orbital myositis have been very rarely described in the literature. We report a patient who developed unilateral painless ptosis caused by idiopathic orbital myositis. A 52-year-old man presented with drooping of the right eyelid for 3 days. There was no history of headache, double vision or any other complaints. Neurological examination revealed right ptosis without pupil and extraocular muscles involvement. Repetitive nerve stimulation test was normal. Ptosis did not improve after the neostigmine injection. Magnetic resonance imaging scan showed asymmetric enlargement of right superior rectus/levator palpebrae superioris muscle complex and medial rectus muscle. Ptosis resolved dramatically after oral corticosteroid therapy. Isolated unilateral ptosis can be caused by various etiologies. Idiopathic orbital myositis should be considered in the differential diagnosis of ptosis.

Isolated Unilateral Ptosis Caused by Idiopathic Orbital Myositis / 대한신경근육질환학회지

Idiopathic orbital myositis is considered as a subgroup of idiopathic orbital inflammatory disease. It is a non-infectious inflammatory disorder primarily affecting the extraocular muscles and causes various eye symptoms including pain, diplopia and limitation of extraocular movement. Cases of isolated ptosis by idiopathic orbital myositis have been very rarely described in the literature. We report a patient who developed unilateral painless ptosis caused by idiopathic orbital myositis. A 52-year-old man presented with drooping of the right eyelid for 3 days. There was no history of headache, double vision or any other complaints. Neurological examination revealed right ptosis without pupil and extraocular muscles involvement. Repetitive nerve stimulation test was normal. Ptosis did not improve after the neostigmine injection. Magnetic resonance imaging scan showed asymmetric enlargement of right superior rectus/levator palpebrae superioris muscle complex and medial rectus muscle. Ptosis resolved dramatically after oral corticosteroid therapy. Isolated unilateral ptosis can be caused by various etiologies. Idiopathic orbital myositis should be considered in the differential diagnosis of ptosis.

Effects of an Empowerment Program for Patients with Schizophrenia / 정신간호학회지

PURPOSE: The aim of this study was to evaluate a ‘patient empowerment program for schizophrenia (PEPS)’ to improve problem solving ability, quality of life, and mental health literacy for hospitalized patients with schizophrenia. METHODS: The study was a non-equivalent control group non-synchronized design. Study participants were recruited from a psychiatric hospital in Republic of Korea. Of 56 participants, 20 were assigned to the experimental group and 36 to the control group. Data were collected from September, 2017 to January, 2018. Data analyses included chi-squared or Fisher's exact tests, t-tests, and repeated measure ANOVA with SPSS/WIN 21.0 program. RESULTS: After participating PEPS, the experimental group showed a significant increase in quality of life and mental health literacy compared to the control group. However, there were no significant differences in problem solving ability between the two groups. CONCLUSION: Findings show that patients with schizophrenia receive benefits from PEPS in terms of quality of life and mental health literacy. However, further research is necessary to develop clinical strategies to improve their problem solving abilities.

The Prevalence and Incidence of Parkinson's Disease in South Korea: A 10-Year Nationwide Population: Based Study

BACKGROUND: The prevalence and incidence of Parkinson's disease (PD) are important for supporting the better comprehension of disease aspects and helping public health planning. Our aim is to evaluate the prevalence and incidence in South Korea between 2004 and 2013. METHODS: This retrospective, nationwide, longitudinal population-based study used National Health Insurance Service-National Sample Cohort Database to define patients with PD from 2004 to 2013 based on having Korean Classification of Diseases code G20, which were assigned by neurologists, and being prescribed PD medication. Annual prevalence and incidence were calculated. RESULTS: The prevalence of PD per 100,000 of population was 41.4 in 2004 and 142.5 in 2013, and there was 13.2% yearly increase over the 10 years. However, the incidence of PD per 100,000 of population increased steadily from 20.2 in 2004 to 53.1 in 2013. The prevalence and incidence were higher in women than in men. CONCLUSIONS: Our data show that there was an increasing trend in the prevalence and incidence of PD from 2004 to 2013, particularly in 70 years and older.

Ischemic Sciatic Neuropathy in a Patient with Liposarcoma

BACKGROUND: Various etiologies are the causative agents for sciatic neuropathy. We present here a case of ischemic sciatic neuropathy in a patient with liposarcoma. CASE REPORT: A 55-year-old woman presented with severe pain and weakness of the left leg. She had a history of recurred retroperitoneal liposarcoma, and was being administered chemotherapy. Examination revealed weakness in ankle dorsiflexion, plantar flexion and hamstring. Complaints also included dysesthesia, and numbness in the sole and dorsum of the foot. Nerve conduction study showed low compound muscle action potentials and slow motor conduction velocity of left peroneal and tibial nerves, with indiscernible sensory nerve action potentials of the left superficial peroneal and sural nerves. Computed tomography angiography revealed occlusion of the left common iliac artery. Commencement of intravenous infusion of heparin resulted in skin color change and progression of the weakness. Hence, the patient underwent an emergency thrombectomy. CONCLUSIONS: Ischemia should be considered as a cause of sciatic neuropathy in cancer patients, which requires management with timely treatment.

Status Epilepticus after Catheter Drainage of Basal Ganglia Hemorrhage

No abstract available.

Cerebrospinal Biomarker Cut-off Methods Defined Only by Alzheimer's Disease Predict More Precisely Conversions of Mild Cognitive Impairment

BACKGROUND AND PURPOSE: The cerebrospinal fluid (CSF) biomarkers play an important supportive role as diagnostic and predictive indicators of Alzheimer's disease (AD). About 30% of controls in old age show abnormal values of CSF biomarkers and display a higher risk for AD compared with those showing normal values. The cut-off values are determined by their diagnostic accuracy. However, the current cut-off values may be less accurate, because controls include high-risk groups of AD. We sought to develop models of patients with AD, who are homogenous for CSF biomarkers. METHODS: We included participants who had CSF biomarker data in the Alzheimer's Disease Neuroimaging Initiative database. We investigated the factors related to CSF biomarkers in patients with AD using linear mixed models. Using the factors, we developed models corresponding to CSF biomarkers to classify patients with mild cognitive impairment (MCI) into high risk and low risk and analyzed the conversion from MCI to AD using the Cox proportional hazards model. RESULTS: APOE ε4 status and age were significantly related to CSF Aβ1-42. CSF t-tau, APOE ε2 status and sex were significant factors. The CSF p-tau181 was associated with age and frequency of diagnosis. Accordingly, we modeled the three CSF biomarkers of AD. In MCI without APOE ε4, our models were better predictors of conversion. CONCLUSIONS: We can interpret CSF biomarkers based on the models derived from the data obtained from patients with AD.

Successful Intra-arterial Stent Thrombectomy in Acute Infarction Caused by Spontaneous Middle Cerebral Artery Dissection

Spontaneous dissection of the middle cerebral artery could result in thromboembolic stroke caused by the intramural hematoma. Dissection should be considered as a possible etiology in a young stroke patient, but it is not straightforward in an emergency situation. Moreover, the efficacy and safety of thrombolytic treatment in the acute stage are unknown. We applied intravenous and intra-arterial stent thrombectomy with the Solitaire device successfully in a patient with acute left middle cerebral artery occlusion due to spontaneous dissection.

Spot Sign on Initial Brain Computed Tomography Angiography Source Image to Predict Large Hemorrhagic Transformation after Middle Cerebral Artery Infarction

The spot sign refers to tiny enhanced foci within the hematoma on a brain computed tomography angiography image. A spot sign is usually considered to be associated with hematoma progression in patients with acute intracerebral hemorrhage. We describe a patient with infarction of the left middle cerebral artery where a spot sign was observed. A spot sign may also have significant predictive value for large hemorrhagic transformation in patients with ischemic stroke.

Analysis of Lumbar Puncture Test in 5 Patients with Good Prognosis of Shunt Operation for Normal Pressure Hydrocephalus

Five patients with favorable outcomes after a shunt operation in normal pressure hydrocephalus were analyzed with the aim of identifying consistent findings in a lumbar puncture (LP) test. The cases commonly showed improvement in at least one cognition and two gait LP parameters. We suggest that when judging the effects of LP on a shunt operation, the gait parameters need to be tailored to the gait status and the analyzed LP parameters should be evaluated at least twice at different times.

Takotsubo Cardiomyopathy Associated With Status Epilepticus

Takotsubo cardiomyopathy is a reversible cardiac syndrome that occurs subsequently to other medical illnesses such as cerebral hemorrhage, shock, or seizure disorders that are presumed to disturb autonomic regulation. This syndrome is characterized by chest pain, dyspnea, and electrocardiographic changes mimicking an acute coronary syndrome. Mild elevation of cardiac enzymes and transient wall-motion abnormalities of apical akinesia can appear. However, takotsubo cardiomyopathy following epilepsy is not well recognized. We report two cases of takotsubo-cardiomyopathy-related idiopathic status epilepticus presenting with cardiogenic shock.

A Case of Miller Fisher Syndrome in a Patient with Systemic Lupus Erythematosus / 대한내과학회지

Neuropsychiatric events are common in patients with systemic lupus erythematosus (SLE). The estimated incidence of neuropsychiatric SLE (NPSLE) is 30 to 40%. However, NPSLE poses a difficult diagnostic challenge because a variety of conditions should be considered in the differential diagnosis, especially when patients present with uncommon or rare NPSLE features. We herein describe a 49-year-old man with SLE who initially presented with diplopia, ptosis, and gait disturbance that had developed 1 week after an upper respiratory tract infection. He was finally diagnosed with Miller Fisher syndrome (a variant of Guillain-Barre syndrome) according to clinical symptoms, anti-GQ1b antibody positivity, and neurological study results. The patient recovered without sequelae with intravenous immunoglobulin therapy. This is the first report to describe a case of Miller Fisher syndrome that developed in a patient with SLE in Korea and suggests that Miller Fisher syndrome should be included as a differential diagnosis of NPSLE.

Lacunar Infarctions and the Cognitive Decline in Patients with Parkinson's Disease

BACKGROUND: The cause of dementia in Parkinson's disease (PD) remains incompletely understood. Cerebrovascular lesions (CVLs) are frequently found in the aging brain and may coexist with PD pathology. We hypothesized that lacunar infarction, which is one type of CVL, impacts on cognitive decline in patients with PD. METHODS: The Mini Mental Status Examination (MMSE) and Clinical Dementia Rating (CDR) tools were applied to PD patients with lacunar infarction (<1.5 cm on brain MRI; PD-S) and PD patients with normal brain MRI (PD-NS). RESULTS: Totals of 19 PD-S patients (9 males and 10 females) and 59 PD-NS patients (16 males and 43 females) took part in this study. Univariate analysis revealed that the gender distribution did not differ between the PD-S and PD-NS groups (p=0.1731), whereas age did differ significantly [79.1+/-5.0 years vs 73.0+/-7.8 years (mean+/-SD), respectively; p=0.0002]. There was no difference between the PD-S and PD-NS patients in either PD disease duration (6.9+/-3.2 vs 5.6+/-3.8 years, respectively; p=0.1790) or education duration (5.3+/-5.4 vs 6.4+/-5.3 years, respectively; p=0.4168). After adjustment for age in ANCOVA analysis, the MMSE score was significantly lower (p=0.0128) and the CDR score was significantly higher (p=0.0426) in the PD-S group than in the PD-NS group. Ten of the PD-S patients had a single lesion. The lacunar infarctions appeared in various locations in these patients, but they were most common in the basal ganglia, thalamus, and periventricular white matter. CONCLUSIONS: Lacunar infarction appears to be associated with cognitive decline in patients with PD even after adjustment for age. Analysis of larger age-matched cases for PD-S and PD-NS is required in order to validate these results.

Myopathy With Anti Signal Recognition Particle Antibody

Myopathies associated with anti-signal-recognition particle (SRP) antibodies usually present with severe muscle weakness and exhibit necrotizing myopathy with little inflammation pathologically. Here we report a case of a 61-year-old man who presented with subacute progressive proximal muscle weakness, dysarthria, and dysphagia. Although polymyositis was expected clinically, muscle biopsy revealed myopathic changes with degenerating fibers without definite inflammation. Further laboratory study revealed that the patient was positive for anti-SRP antibodies.

Co-occurrence of Myasthenia Gravis in a Patient with Systemic Sclerosis-Sjogren's Syndrome without D-penicillamine Therapy / 대한류마티스학회지

Systemic sclerosis is an autoimmune disease characterized by progressive fibrosis of the skin and visceral organs. Myasthenia gravis is also an autoimmune disease characterized by weakness and fatigue of skeletal muscles. The symptoms of systemic sclerosis and myasthenia gravis overlap clinically, so the recognition of disease co-occurrence may be delayed. Co-occurrence of myasthenia gravis and systemic sclerosis is very uncommon and usually diagnosed after use of D-penicillamine for treating the systemic sclerosis. We report a case of a 49-year-old female patient who complained of general weakness and was diagnosed with myasthenia gravis. Four months earlier she was diagnosed with systemic sclerosis with Sjogren's syndrome and her medications did not include D-penicillamine.

Clinical Features, Disability and Socioeconomic Status of Patients With Muscular Dystrophy in Korea

BACKGROUND: Since 2001, the Ministry of Health and Welfare in Korea has designated muscular dystrophy (MD) to be a rare and intractable disease, and has ensured that patients with this condition obtain support from the National Health Insurance Corporation for their medical expenditure. However, the health-related and socioeconomic status of Korean patients with MD has yet to be established. METHODS: We selected 441 patients with MD who received medical services at 17 neuromuscular centers during 2005. The medical records of selected patients were analyzed, and the subtype of MD was classified by its clinical course and diagnostic tests. A total of 95 patients or their family members participated in this health-related and socioeconomic status survey. RESULTS: Medical record analysis showed similar clinical and diagnostic characteristic data to those published previously in other countries: male predominance, being young at onset, and muscular weakness of the extremities as a predominant symptom in most patients. The diagnostic tests for MD were based on laboratory and electrophysiological studies. The most frequent form of MD among our cohort was Duchenne/Becker muscular dystrophy (42%). Our survey revealed the effect of the patients' profound disability on their activities of daily living. One-half of the patients were dissatisfied with the medical expenditure support service that was made available to them, and most patients suffered from a financial burden. The most important medical services to be developed in the future are expansion of the public health service or development of a rehabilitation hospital. CONCLUSIONS: This is the first multicenter-based epidemiologic study on the health-related and socioeconomic status of patients with MD in Korea. The findings indicate that medical coverage and public health service are currently inadequate and hence should be expanded in the future.

Clinical Features and Genetic Analysis of Fascioscapulohumeral Muscular Dystrophy

BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of the polymorphic D4Z4-repeat array in 4q35 and has the distinctive clinical presentation of an initial involvement of the facial, shoulder-girdle, and upper-arm muscles. The aim of the present study was to determine clinical characteristics in Korean patients with FSHD and potential relationships between contracted D4Z4-repeat size and the FSHD phenotype. METHODS: We studied 34 genetically confirmed patients who had repeat sizes less than 38 kb, and analyzed their clinical manifestations with a structured protocol. The expressed phenotypes were scored according to the Clinical Severity Score formulated by Ricci and van Overveld. RESULTS: The clinical spectrum ranged widely, from asymptomatic individuals with minimal signs to wheelchair- bound patients. The initial affects were mainly in the facial muscles (68.8%), followed by the shoulder-girdle muscle (28.1%). Asymmetric features of the face and shoulder girdle were also important findings (71.9% and 90.0%, respectively). Winging scapular (87.5%), transverse smile (84.4%), Beevor's sign (68.8%), and sleeping with eyes opened (59.4%) were clinically important signs. There was a significant negative correlation between repeat size and clinical severity (r=-0.38, p=0.03). CONCLUSIONS: Distinctive clinical characteristics of FSHD are descending progression and asymmetric distribution of the muscle weakness. Our results also confirmed that the severity of FSHD increases with decreasing D4Z4-repeat size.

A Case of Acute Respiratory Muscle Weakness Complicated by Sjogren Syndrome

Sjogren syndrome is a chronic autoimmune disease characterized by lymphocytic infiltration of exocrine glands resulting in dry mouth and eyes. Approximately one-third of patients present with systemic manifestations, but respiratory muscle involvements have been rarely reported. We report a case of acute respiratory failure complicated by primary Sjogren syndrome. Muscle biopsy revealed perivascular lymphocytic infiltrations. Corticosteroid therapy improved respiratory muscle weakness. Sjogren syndrome should be considered as one of the underlying diseases causing acute respiratory failure.