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Rare diseases are predominantly genetic or inherited, and patients with these conditions frequently exhibit neurological symptoms. Diagnosing and treating many rare diseases is a complex challenge, and their low prevalence complicates the performance of research, which in turn hinders the advancement of therapeutic options. One strategy to address this issue is the creation of national or international registries for rare diseases, which can help researchers monitor and investigate their natural progression. In the Republic of Korea, we established a registry across 5 centers that focuses on 3 rare diseases, all of which are characterized by gait disturbances resulting from motor system dysfunction. The registry will collect clinical information and human bioresources from patients with amyotrophic lateral sclerosis, spinocerebellar ataxia, and hereditary spastic paraplegia. These resources will be stored at ICreaT and the National Biobank of Korea. Once the registry is complete, the data will be made publicly available for further research. Through this registry, our research team is dedicated to identifying genetic variants that are specific to Korean patients, uncovering biomarkers that show a strong correlation with clinical symptoms, and leveraging this information for early diagnosis and the development of treatments.

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Background@#and Purpose We performed a population-based study to determine the prevalence and incidence of chronic inflammatory demyelinating polyneuropathy (CIDP) in South Korea using data from the Korean Health Insurance Review and Assessment Service (HIRA) database. @*Methods@#Data recorded in the HIRA database between January 2016 and December 2020 were analyzed. The inclusion criteria in this study for patients with CIDP were a diagnostic code of G61.8 in the seventh and eighth revision of the Korean Standard Classification of Disease and a >3-month history of oral immunosuppressant use. The age-adjusted incidence rate and prevalence of CIDP in South Korea were also analyzed. @*Results@#CIDP was newly diagnosed in 953 patients during the study period. The mean age at diagnosis was 58.36 years, and the male-to-female ratio was 1.74. The age-adjusted incidence rates were 0.22, 0.21, 0.23, 0.30, and 0.25 per 100,000 person-years in 2016, 2017, 2018, 2019, and 2020, respectively. The age-adjusted prevalence was estimated at 1.16 per 100,000 persons in 2020. Age and the Elixhauser Comorbidity Index were associated with the in-hospital mortality of patients with CIDP. Infection and cardiovascular disease (CVD) were also significantly associated with the in-hospital mortality of those patients. Acute-onset CIDP was initially diagnosed in an estimated 101 out of 953 patients with CIDP. @*Conclusions@#The prevalence and incidence rates of CIDP in South Korea were comparable between this nationwide cohort study and previous studies. Common comorbidities such as CVD and diabetes should be appropriately monitored in patients with CIDP to prevent a poor prognosis and socioeconomic burden.

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BackgroundMany serological assays to detect SARS-CoV-2 antibodies were developed during the COVID-19 pandemic. Differences in the detection mechanism of SARS-CoV-2 serological assays limited the comparability of seroprevalence estimates for populations being tested. MethodsWe conducted a systematic review and meta-analysis of serological assays used in SARS-CoV-2 population seroprevalence surveys, searching for published articles, preprints, institutional sources, and grey literature between January 1, 2020, and November 19, 2021. We described features of all identified assays and mapped performance metrics by the manufacturers, third-party head-to-head, and independent group evaluations. We compared the reported assay performance by evaluation source with a mixed-effect beta regression model. A simulation was run to quantify how biased assay performance affects population seroprevalence estimates with test adjustment. ResultsAmong 1807 included serosurveys, 192 distinctive commercial assays and 380 self-developed assays were identified. According to manufacturers, 28.6% of all commercial assays met WHO criteria for emergency use (sensitivity [Sn.] >= 90.0%, specificity [Sp.] >= 97.0%). However, manufacturers overstated the absolute values of Sn. of commercial assays by 1.0% [0.1, 1.4%] and 3.3% [2.7, 3.4%], and Sp. by 0.9% [0.9, 0.9%] and 0.2% [-0.1, 0.4%] compared to third-party and independent evaluations, respectively. Reported performance data was not sufficient to support a similar analysis for self-developed assays. Simulations indicate that inaccurate Sn. and Sp. can bias seroprevalence estimates adjusted for assay performance; the error level changes with the background seroprevalence. ConclusionsThe Sn. and Sp. of the serological assay are not fixed properties, but varying features depending on the testing population. To achieve precise population estimates and to ensure the comparability of seroprevalence, serosurveys should select assays with high performance validated not only by their manufacturers and adjust seroprevalence estimates based on assured performance data. More investigation should be directed to consolidating the performance of self-developed assays.

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Parry-Romberg syndrome is a rare acquired disease of unknown etiology that is classically characterized by progressive atrophy of the skin, subcutaneous tissues, and underlying bone structures. Eyelid myokymia is a disorder of involuntary, fine, continuous, undulating muscle fiber contractions, which is seen as a rippling of the overlying periorbital area. We report a patient with Parry-Romberg syndrome presenting eyelid myokymia.

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We analyzed the manner and cause of death in 945 forensic autopsies from the Jungbu province (Central part of South Korea) conducted by the National Forensic Service Daejeon institute in 2020. Analysis of the manner of death revealed that 43.6% (412/945 cases) were natural deaths, 41.6% (393/945 cases) were unnatural deaths, and 14.8% (140/945 cases) deaths were unknown. Among the unnatural deaths, the major manner of death (40.7%, 160/393 cases) were by accidents, 29.5% (116/393 cases) were by suicide, 21.6% (85/393 cases) were undetermined, and 8.1% (32/393 cases) were by homicide. Among the unnatural deaths, the major cause of death (42.7%, 168/393 cases) were by trauma, 19.3% (76/393 cases) were by poisoning, and 16.5% (65/393 cases) were by asphyxia. Falling was the major cause of death by trauma (42.9%, 72/168 cases) and strangulation was the major cause of death by asphyxia (72.3%, 47/65 cases). Among natural deaths, heart disease was the major cause (43.7%, 180/412 cases), followed by vascular disease (18.9%, 78/412 cases). This study is the first statistical analysis of the manner and cause of deaths in the Jungbu province. A time-series statistical analysis of the manner and cause of deaths in this province might allow more advanced interpretations about both public safety and healthcare in the future.

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We investigated the expression and subcellular localization of the SARS-CoV-2 receptor, angiotensin-converting enzyme 2 (ACE2), within the upper (nasal) and lower (pulmonary) respiratory tracts of healthy human donors. We detected ACE2 protein expression within the cilia organelle of ciliated airway epithelial cells, which likely represents the initial or early subcellular site of SARS-CoV-2 viral entry during respiratory transmission. We further determined whether ACE2 expression in the cilia of upper respiratory cells was influenced by patient demographics, clinical characteristics, co-morbidities, or medication use, and found no evidence that the use of angiotensin-converting enzyme inhibitors (ACEI) or angiotensin II receptor blockers (ARBs) increases ACE2 protein expression.

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No abstract available.

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Neuromyelitis optica spectrum disorder (NMOSD) is generally known as selective involvement of central nervous system. However, in recent years, some evidences have been found that NMOSD invades other peripheral organs. Especially, skeletal muscle involvement of NMOSD has been documented scantily and further studies must be required. Here, we describe a patient who first had generalized fatigue, mild weakness, and myalgia with increased level of serum creatine kinase and was finally diagnosed with myopathy associated with NMOSD.

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