The objective of this study was to review the clinical characteristics of patients with spinal muscular atrophy and to emphasize the importance of performing genetic mutational analysis at initial patient assessment. This is a single center oriented, retrospective, and descriptive study conducted in Seoul, South Korea. Genetic mutational analysis to detect the deletion of exon 7 of the SMN1 gene on chromosome 5q13 was performed by multiplex ligation-dependent probe amplification. Clinical features, electrodiagnostic study results, muscle biopsy results, and laboratory test results were reviewed from patient medical records. Of all 28 patients (15 males and 13 females), all showed bilateral symmetric proximal dominant weakness. Among them, 3 patients were classified as type I, 14 patients as type II, and 11 patients as type III. Twenty-five patients had scoliosis and eight of these patients received surgical treatment for scoliosis with improvement in clinical outcomes. Ventilator support was used in 15 patients. In terms of the diagnostic process, 15 patients had completed an electrodiagnostic study and muscle biopsy before genetic testing, and six of these patients were initially misdiagnosed with myopathy. Owing to the similar clinical features of SMA and congenital myopathy, an electrodiagnostic study and muscle biopsy could create confusion in the correct diagnosis in some cases. Therefore, it is recommended that genetic mutation analysis should be conducted along with an electrodiagnostic study or muscle biopsy in the diagnostic process for spinal muscular atrophy.
Biopsy ; Diagnosis ; Exons ; Genetic Testing ; Humans ; Korea* ; Male ; Medical Records ; Multiplex Polymerase Chain Reaction ; Muscular Atrophy, Spinal* ; Muscular Diseases ; Retrospective Studies ; Scoliosis ; Seoul ; Ventilators, Mechanical

Miller Fisher syndrome, first reported by Miller Fisher in 1956, is characterized by a triad of external ophthalmoplegia, areflexia, and ataxia. Many features shared with Guillain-Barre syndrome; CSF usually shows elevated proteins and the syndrome is often is preceded by an infectious disorder. It is believed that the level of anti-GQ1b IgG antibody is elevated during an acute phase, increases and decreases rapidly during clinical recovery, that the level of anti-GQ1b IgG can be used as a diagnostic tool for Miller Fisher syndrome during an acute phase. We report an 8 year-old boy who showed typical clinical manifestations of Miller Fisher syndrome, with respiratory tract illness, associated with the seroconversion of Mycoplasma pneumoniae titers during the development of neurological symptom, with positive anti- GQ1b IgG.
Ataxia ; Child* ; Guillain-Barre Syndrome ; Humans ; Immunoglobulin G ; Male ; Miller Fisher Syndrome* ; Mycoplasma pneumoniae* ; Mycoplasma* ; Ophthalmoplegia ; Pneumonia, Mycoplasma* ; Respiratory System

BACKGROUND: Herpes simplex virus type 2 (HSV-2) is the second most common cause of viral meningitis and the most common cause of recurrent meningitis. Although the incidence of HSV-2 meningitis is high, its clinical characteristics are not well known. The purpose of this study was to review the clinical characteristics and prognosis of HSV-2 meningitis. METHODS: We analyzed patients who were admitted to the Department of Neurology at Severance Hospital with a final diagnosis of HSV-2 meningitis, as confirmed by applying the polymerase chain reaction to the cerebrospinal fluid (CSF) of patients. RESULTS: The study involved 998 patients with aseptic meningitis and 60 patients diagnosed with HSV-2 meningitis. The mean age at meningitis presentation was 32.5 years (range 18-54 years), and 72% of the patients were female. Common clinical symptoms were headache (100%), nausea and/or vomiting (83%), meningismus (57%), and fever (55%). Six patients had a history of genital herpes infection, and 11 had a past history of recurrent meningitis. The CSF study was notable for elevated protein (111.0±53.5 mg/dL, mean±standard deviation) and white cell count (332.0±211.3 cells/µL). The CSF/serum glucose ratio was 0.52±0.90. Various treatments were applied, including conservative care, antiviral agents, empirical antibiotics, and combined treatments. All patients recovered without serious neurologic sequelae. CONCLUSIONS: HSV-2 meningitis is relatively common, as are recurrent episodes. The clinical characteristics of HSV-2 meningitis are similar to those of other types of aseptic meningitis. HSV-2 meningitis is treated using antiviral therapy, and the prognosis is favorable even with conservative treatment.
Anti-Bacterial Agents ; Antiviral Agents ; Cell Count ; Cerebrospinal Fluid ; Diagnosis ; Female ; Fever ; Glucose ; Headache ; Herpes Genitalis ; Herpes Simplex* ; Herpesvirus 2, Human* ; Humans ; Incidence ; Meningism ; Meningitis ; Meningitis, Aseptic ; Meningitis, Viral ; Nausea ; Neurology ; Polymerase Chain Reaction ; Prognosis ; Retrospective Studies* ; Simplexvirus* ; Vomiting

No abstract available.
Neoplasm Metastasis ; Prostate ; Prostatic Neoplasms

No abstract available.
Brain ; Neoplasm Metastasis

Background: Chronotype refers to individual variations in diurnal preferences that manifest as everyday behaviors, including sleep patterns. Traditionally, the Horne & Östberg Morningness–Eveningness Questionnaire (MEQ), which comprises of 19 items, has been the standard for determining chronotype. However, its length makes it cumbersome for widespread application. To address this issue, the reduced MEQ (rMEQ), a concise version containing only five items from the MEQ, was developed for a more practical approach to chronotype assessment. This study aimed to evaluate the validity and reliability of Korean version of rMEQ in a sample from the general Korean population. Methods: The Korean version of the rMEQ comprises of items 1, 7, 10, 18, and 19 of the original MEQ. The validity of the rMEQ was assessed by correlating its scores with those of the MEQ and Munich Chronotype Questionnaire (MCTQ). Its reliability was determined by calculating internal consistency. Results: A total of 3,030 individuals participated in the study, yielding an average rMEQ score of 14.0 ± 3.4. There was a substantial positive correlation between the rMEQ and MEQ scores (r = 0.859, P < 0.001). Furthermore, the rMEQ scores were significantly negatively correlated with the midpoint of sleep on free days corrected for sleep debt as measured by the MCTQ (r = −0.388, P < 0.001), indicating a robust association with chronotype. The internal consistency of rMEQ, measured using Cronbach’s alpha, was 0.609. Conclusion This study finds the Korean version of the rMEQ to be a valid and reliable instrument for assessing chronotype in the general population.

Background: Chronotype refers to individual variations in diurnal preferences that manifest as everyday behaviors, including sleep patterns. Traditionally, the Horne & Östberg Morningness–Eveningness Questionnaire (MEQ), which comprises of 19 items, has been the standard for determining chronotype. However, its length makes it cumbersome for widespread application. To address this issue, the reduced MEQ (rMEQ), a concise version containing only five items from the MEQ, was developed for a more practical approach to chronotype assessment. This study aimed to evaluate the validity and reliability of Korean version of rMEQ in a sample from the general Korean population. Methods: The Korean version of the rMEQ comprises of items 1, 7, 10, 18, and 19 of the original MEQ. The validity of the rMEQ was assessed by correlating its scores with those of the MEQ and Munich Chronotype Questionnaire (MCTQ). Its reliability was determined by calculating internal consistency. Results: A total of 3,030 individuals participated in the study, yielding an average rMEQ score of 14.0 ± 3.4. There was a substantial positive correlation between the rMEQ and MEQ scores (r = 0.859, P < 0.001). Furthermore, the rMEQ scores were significantly negatively correlated with the midpoint of sleep on free days corrected for sleep debt as measured by the MCTQ (r = −0.388, P < 0.001), indicating a robust association with chronotype. The internal consistency of rMEQ, measured using Cronbach’s alpha, was 0.609. Conclusion This study finds the Korean version of the rMEQ to be a valid and reliable instrument for assessing chronotype in the general population.

Background: Chronotype refers to individual variations in diurnal preferences that manifest as everyday behaviors, including sleep patterns. Traditionally, the Horne & Östberg Morningness–Eveningness Questionnaire (MEQ), which comprises of 19 items, has been the standard for determining chronotype. However, its length makes it cumbersome for widespread application. To address this issue, the reduced MEQ (rMEQ), a concise version containing only five items from the MEQ, was developed for a more practical approach to chronotype assessment. This study aimed to evaluate the validity and reliability of Korean version of rMEQ in a sample from the general Korean population. Methods: The Korean version of the rMEQ comprises of items 1, 7, 10, 18, and 19 of the original MEQ. The validity of the rMEQ was assessed by correlating its scores with those of the MEQ and Munich Chronotype Questionnaire (MCTQ). Its reliability was determined by calculating internal consistency. Results: A total of 3,030 individuals participated in the study, yielding an average rMEQ score of 14.0 ± 3.4. There was a substantial positive correlation between the rMEQ and MEQ scores (r = 0.859, P < 0.001). Furthermore, the rMEQ scores were significantly negatively correlated with the midpoint of sleep on free days corrected for sleep debt as measured by the MCTQ (r = −0.388, P < 0.001), indicating a robust association with chronotype. The internal consistency of rMEQ, measured using Cronbach’s alpha, was 0.609. Conclusion This study finds the Korean version of the rMEQ to be a valid and reliable instrument for assessing chronotype in the general population.

Background: Chronotype refers to individual variations in diurnal preferences that manifest as everyday behaviors, including sleep patterns. Traditionally, the Horne & Östberg Morningness–Eveningness Questionnaire (MEQ), which comprises of 19 items, has been the standard for determining chronotype. However, its length makes it cumbersome for widespread application. To address this issue, the reduced MEQ (rMEQ), a concise version containing only five items from the MEQ, was developed for a more practical approach to chronotype assessment. This study aimed to evaluate the validity and reliability of Korean version of rMEQ in a sample from the general Korean population. Methods: The Korean version of the rMEQ comprises of items 1, 7, 10, 18, and 19 of the original MEQ. The validity of the rMEQ was assessed by correlating its scores with those of the MEQ and Munich Chronotype Questionnaire (MCTQ). Its reliability was determined by calculating internal consistency. Results: A total of 3,030 individuals participated in the study, yielding an average rMEQ score of 14.0 ± 3.4. There was a substantial positive correlation between the rMEQ and MEQ scores (r = 0.859, P < 0.001). Furthermore, the rMEQ scores were significantly negatively correlated with the midpoint of sleep on free days corrected for sleep debt as measured by the MCTQ (r = −0.388, P < 0.001), indicating a robust association with chronotype. The internal consistency of rMEQ, measured using Cronbach’s alpha, was 0.609. Conclusion This study finds the Korean version of the rMEQ to be a valid and reliable instrument for assessing chronotype in the general population.