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Background@#The coronavirus disease 2019 pandemic has been challenging the healthcare service, i.e., the vitalization of the point of care accompanying self-testing in vitro diagnostic medical devices (IVDs). This study aims to suggest priority criteria to classify self-testing IVDs using the analytic hierarchy process technique. @*Methods@#Two dimensions of the characteristics embedded in the IVDs and the diseases to be diagnosed with self-testing IVDs were parallelly considered and independently investigated. In addition, three expert panels consisting of laboratory medical doctors (n=11), clinicians (n=10), and citizens (n=11) who have an interest in the selection of self-testing IVDs were asked to answer to questionnaires. Priorities were derived and compared among each expert panel. @*Results@#First of all, ease of specimen collection (0.241), urgency of the situation (0.224), and simplicity of device operation (0.214) were found to be the most important criteria in light of the functional characteristics of self-testing IVDs. Medical doctors valued the ease of specimen collection, but the citizen’s panel valued self-management of the disease more. Second, considering the characteristics of the diseases, the priority criteria were shown in the order of prevalence of diseases (0.421), fatality of disease (0.378), and disease with stigma (0.201). Third, medical doctors responded that self-testing IVDs were more than twice as suitable for non-communicable diseases as compared to communicable diseases (0.688 vs. 0.312), but the citizen’s group responded that self-testing IVDs were slightly more suitable for infectious diseases (0.511 vs. 0.489). @*Conclusion@#Our findings suggested that self-testing IVDs could be primarily classified as the items for diagnosis of non-communicable diseases for the purpose of self-management with easy specimen collection and simple operation of devices, taking into account the urgency of the situation as well as prevalence and fatality of the disease.
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Purpose@#This study aims to investigate factors associated with depression during Coronavirus disease 2019 (COVID-19) quarantine. @*Methods@#An online survey was done to assess depression of the individuals living in Seoul, who were under quarantine due to COVID-19 between October and December 2020. A total of 1,139 individuals were included in our analysis. Logistic regression analysis was performed to investigate factors contributing to depression during COVID-19 quarantine. @*Results@#The prevalence of depression among the participants was 8.5% (women 11.1%, men 5.8%). Our regression analyses showed that pre-existing depression, women, perceived support, correct understanding of the rationale for quarantine, and understanding of quarantine instructions were significantly associated with the likelihood of depression during quarantine due to COVID-19. @*Conclusion@#The findings suggest that it is necessary to develop and implement a preemptive measure focusing on vulnerable groups such as women or people with pre-existing depression to prevent depression during quarantine. In addition, this study confirmed that active and efficient communication by the health authorities is essential to better understand the purpose and instructions of quarantine, which is also effective in preventing depressive symptoms during quarantine.
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PURPOSE@#To identify differences in ultrasonography (US) feature, clinical and pathological characteristics including immunohistochemical characteristics between small breast cancer (pathologic size ≤ 5 mm) and large breast cancer (> 5 mm).@*MATERIALS AND METHODS@#A total of 528 invasive breast cancer lesions in 475 patients were included. US features with clinical and pathological characteristics were evaluated according to pathologic size. US Breast Imaging-Reporting and Data System findings and final assessments were recorded for each lesion. Standard references were based on surgical pathologies.@*RESULTS@#Of 528 invasive breast cancer lesions, 62 were small breast cancers. Small breast cancers showed a higher rate of oval, round shape, parallel orientation; circumscribed margin; and iso/solid and cystic echo pattern, with no posterior feature. The final assessment of category 4 was also a dominant factor in small breast cancer. Early stage, asymptomatic state, and extensive ductal carcinoma in situ component were associated with small breast cancers.@*CONCLUSION@#Our results show that small breast cancers have less suspicious US features than large breast cancers.
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BACKGROUND: To investigate incidence and mortaltiy of osteoporotic fractures (including hip, spine, distal radius, and proximal humerus) in rheumatoid arthritis (RA) patients and compare them with those in the genearal population. METHODS: Data provided by National Health Insurance Service were used to identify osteoporotic fractures in patients aged >50 years between 2010 and 2012. Patients with RA were identified by the diagnostic code for seropositive RA. Standardized mortality ratios (SMRs; observed/expected deaths) of osteoporotic fractures were calculated based on age and gender-specific rates in the entire Korean population. Incidence, mortality, and SMR of osteoporotic fractures in RA patients and the general population were calculated and compared. RESULTS: Osteopororic fractures in the general population and RA patients were increased by 11.6% and 17.4% over 3 years (195,271 and 1,356 in 2010; 217,985 and 1,592 in 2012), respectively. Mean age-specific incidence of osteoporotic fracture in women and men with RA increased from 932.1/100,000 and 306.1/100,000 for aged 50 to 59 year to 9,377.0/100,000 and 3,700.9/100,000 for aged ≥80 years, respectively. Cumulative mortality rate in the first year after osteoporotic fracture in patients with RA was higher than that in the general population (7.8% in RA and 6.6% in the general population). SMR of osteoporotic fracture in RA patients was 1.4 times higher in men and 1.3 times higher in women than that for the general population. CONCLUSIONS: This study demonstated that incidence, 1-year mortality, and SMR of osteoporotic fracture in RA patients aged 50 years and older were higher than those in the general papulation.
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Feminino , Humanos , Masculino , Artrite Reumatoide , Quadril , Incidência , Coreia (Geográfico) , Mortalidade , Programas Nacionais de Saúde , Fraturas por Osteoporose , Rádio (Anatomia) , Coluna VertebralRESUMO
BACKGROUND: Korea is expected to become an ultra-aged society, in which the elderly population will account for more than 20% of the total population, after 2025. Thus, the social costs due to osteoporotic fractures are expected to increase. Therefore, this study aimed to measure disability weights (DWs) of osteoporosis and osteoporotic fractures in Korea. METHODS: The scenarios were developed to standardize the severity of 6 health statuses: osteoporosis and osteoporotic fractures including wrist, hip, post-hip, vertebral, and post-vertebral fracture. The values for these 6 health statuses were sought via a person trade-off (PTO) approach. We measured the value by PTO and we calculated it to DW of 6 health statuses. Three clinical expertise panels of 33 experts were established, and face-to-face interviews were conducted from July to December 2017. RESULTS: The distribution of DW varied by panel. DWs ranged from 0.5 (Osteoporosis) to 0.857 (Hip fracture) for Panel 1, 0.091 (Osteoporosis) to 0.5 (Hip fracture) for Panel 2, and 0.091 (Osteoporosis) to 0.726 (Hip fracture) for Panel 3. The final values for the 6 health statuses obtained by pooling all data from 3 panels ranged from 0.286 (Osteoporosis) to 0.750 (Hip fracture). There was no significant difference in rankings for the 6 health statuses among the 3 panels. CONCLUSIONS: Comparing the DW of osteoporotic fracture in this study with other diseases in previous studies, it is predicted that osteoporotic fractures, especially hip fractures, will have a considerable burden of disease.
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Idoso , Humanos , Quadril , Fraturas do Quadril , Coreia (Geográfico) , Osteoporose , Fraturas por Osteoporose , Pesos e Medidas , PunhoRESUMO
PURPOSE@#To evaluate the magnetic resonance imaging (MRI) findings to improve the diagnostic accuracy for transverse process fractures and sacral fractures.@*MATERIALS AND METHODS@#The lumbosacral MRI scans of 214 patients (mean age, 60 years; male-to-female ratio, 85:129), who had spine trauma between January and November 2015 were included. Two radiologists evaluated the presence, number, level, and anatomic site of the fractures on MRI with computed tomography as reference standard. Imaging findings were described as cortical disruption, marrow edema, or soft tissue edema on T1-, T2-, and fat-suppressed T2-weighted images. A statistical analysis was performed to compare the diagnostic accuracy of the MRI pulse sequences for the transverse process and sacral fractures.@*RESULTS@#Of 168 fractures, 26 (15.5%) and 13 (4.9%) were in the transverse processes and sacra, respectively. A paravertebral soft tissue edema occurred in the transverse process fractures (80.8%) and presacral soft tissue and marrow edemas occurred in the sacral fractures (46.1%). The sensitivity for the transverse process fractures was 88% on the T2-weighted image. It was 92% on fat-suppressed T2- and T1-weighted images for sacral fractures.@*CONCLUSION@#Bone marrow and soft tissue edemas on the MRI could potentially improve the diagnostic accuracy of an MRI for fractures in the transverse process and sacrum.
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BACKGROUND: In South Korea, 22.3% of women ≥50 years of age and 37% of women ≥70 years of age visit the doctor to obtain treatment for osteoporosis. According to the analysis of the National Health Insurance Services claim data between 2008 and 2012, the number and incidence of hip and vertebral fractures increased during the same period. Denosumab, a newly marketed medicine in Korea, is the first RANK inhibitor. METHODS: A cost-utility analysis was conducted from a societal perspective to prove the superiority of denosumab to alendronate. A Markov cohort model was used to investigate the cost-effectiveness of denosumab. A 6-month cycle length was used in the model, and all patients were individually followed up through the model, from their age at treatment initiation to their time of death or until 100 years of age. The model consisted of eight health states: well; hip fracture; vertebral fracture; wrist fracture; other osteoporotic fracture; post-hip fracture; post-vertebral fracture; and dead. All patients began in the well-health state. In this model, 5% discounted rate, two-year maximum offset time, and persistence were adopted. RESULTS: The total lifetime costs for alendronate and denosumab were USD 5,587 and USD 6,534, respectively. The incremental costeffectiveness ratio (ICER) for denosumab versus alendronate was USD 20,600/QALY. Given the ICER threshold in Korea, the results indicated that denosumab was remarkably superior to alendronate. CONCLUSION: Denosumab is a cost-effective alternative to the oral anti-osteoporotic treatment, alendronate, in South Korea.
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Feminino , Humanos , Alendronato , Estudos de Coortes , Análise Custo-Benefício , Denosumab , Farmacoeconomia , Quadril , Incidência , Coreia (Geográfico) , Programas Nacionais de Saúde , Osteoporose , Osteoporose Pós-Menopausa , Fraturas por Osteoporose , PunhoRESUMO
BACKGROUND: In this study, we evaluated the prevalence of osteoporosis, risk factors associated with osteoporosis, and health-related quality of life (HRQOL) in clinically stable chronic obstructive pulmonary disease (COPD) patients. METHODS: A total of 1,081 COPD patients were recruited from the Korea National Health and Nutrition Examination Survey (KNHANES) from July 2008 to May 2011. Bone mineral densities at the lumbar spine, femoral neck, and total proximal femur were measured using dual energy X-ray absorptiometry. HRQOL was assessed using the EuroQOL-5 dimensions (EQ-5D) questionnaire. To identify factors associated with osteoporosis and HRQOL in patients with COPD, multivariate regression analyses was performed. RESULTS: Of the 1,081 COPD patients, 191 (17.7%) were diagnosed with osteoporosis. There were significant differences in age, sex, smoking status, education level, house income, and body mass index (BMI) between the osteoporotic and non-osteoporotic groups. COPD patients with osteoporosis had significantly lower EQ-5D scores than the controls. In multivariate analyses, older age (odds ratio [OR]=1.10, P < 0.001) was risk factor for osteoporosis. And patients of male sex (OR=0.06, P < 0.001), high house income (OR=0.75, P=0.045), and high BMI (OR=0.74, P < 0.001) were less likely to have osteoporosis. In addition, osteoporosis was associated with poor HRQOL (β=−0.21, P=0.023). CONCLUSIONS: The prevalence of osteoporosis in COPD patients based on the 2008 to 2011 KNHANES data were relatively lower than that in physician-diagnosed COPD patients. In these COPD patients, older age, female sex, low household income, and low BMI increased the risk for osteoporosis.
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Feminino , Humanos , Masculino , Absorciometria de Fóton , Índice de Massa Corporal , Densidade Óssea , Educação , Características da Família , Fêmur , Colo do Fêmur , Coreia (Geográfico) , Análise Multivariada , Inquéritos Nutricionais , Osteoporose , Prevalência , Doença Pulmonar Obstrutiva Crônica , Qualidade de Vida , Fatores de Risco , Fumaça , Fumar , Coluna VertebralRESUMO
BACKGROUND: The purpose of this study was to explore health-related quality of life (HRQOL) among Korean patients with osteoporosis and to measure the impact of fractures and comorbidity on their quality of life (QOL) using the Korean National Health and Nutrition Examination Survey (KNHANES) data with a nationwide representativeness. METHODS: This study was based on 4-year-data obtained from the KNHANES 2008 to 2011. Osteoporosis was diagnosed in 2,078 survey participants according to their bone mineral density measurements using dual energy X-ray absorptiometry. According to the World Health Organization study group, T-scores at or above -1.0 are considered normal, those between -1.0 and -2.5 as osteopenia, and those at or below -2.5 as osteoporosis The EuroQol five-dimensional questionnaire (EQ-5D) index score was used to assess the QOL. RESULTS: Of 2,078 patients diagnosed with osteoporosis, fractures were found to occur at 11.02%. Wrist fracture was the most frequent, affecting 4.52% of the patients, with a significantly different prevalence among men and women (P<0.001). The overall EQ-5D index score was 0.84±0.01 among patients with osteoporosis. With the exception of cancer, the EQ-5D index score were significantly lower for those having osteoarthritis, rheumatoid arthritis, hypertension, diabetes, chronic obstructive pulmonary disease and cardiovascular events compared to those without the related diseases. CONCLUSIONS: We found that low health utility was associated with previous spine fracture and comorbidities in patients with osteoporosis. In particular, the number of fracture experiences greatly deteriorated the HRQOL in patients with osteoporosis. Thus, prevention of secondary fractures and chronic care model for comorbidities should be a priority for osteoporosis management in order to improve HRQOL.
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Feminino , Humanos , Masculino , Absorciometria de Fóton , Artrite Reumatoide , Densidade Óssea , Doenças Ósseas Metabólicas , Comorbidade , Hipertensão , Inquéritos Nutricionais , Osteoartrite , Osteoporose , Prevalência , Doença Pulmonar Obstrutiva Crônica , Qualidade de Vida , Coluna Vertebral , Organização Mundial da Saúde , PunhoRESUMO
Canine herpesvirus (CHV) is a member of the alphaherpesvirus subfamily, which can cause severe hemorrhagic diseases in neonatal pups as well as mild or subclinical respiratory infections in adult dogs. We examined the effects of cold stress on disease progression of CHV, an alphaherpesvirus, in neonatal puppies. Eight puppies were challenged intranasally with CHV suspension and divided into a cold stress treatment group and a hyperthermal group. Four pups were left uninoculated as controls and divided into cold and hyperthermal groups. In the challenged cold treatment group, all pups showed CHV-related disease within 5 days; pathological changes were observed in organs of puppies showing clinical symptoms. Grossly, numerous petechial red foci were scattered throughout lungs, kidneys, livers, and intestines of all CHV-infected puppies exposed to cold stress. Most puppies showed typical clinical signs and macroscopic lesions, and CHV infection was confirmed by isolation of the virus. However, in the challenged hyperthermal group, only one of the pups showed mild symptoms of CHV-induced disease. None of the puppies in the uninoculated group showed abnormal signs, although they were exposed to cold stress. These findings indicate that cold stress can cause rapid disease progression of CHV, an alphaherpesvirus.
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Adulto , Animais , Cães , Humanos , Progressão da Doença , Hemorragia , Intestinos , Rim , Fígado , Pulmão , Infecções RespiratóriasRESUMO
Along with the steady growth of health functional food (HFF) markets, research evaluating the human effects of HFF has been expanding. In this study, we investigated the regulatory and management system of human study on HFF in the USA, Japan and UK, and the Korean domestic regulations on HHF, medicines, medical devices, cosmetics and biotechnology in order to improve the domestic management system. In these four countries, institutional review board (IRB) or research ethics committee (REC) approvals are required for on human study of HHF, but regulatory and management systems differ from country to country. In the USA, human studies on HFF for structure/function claims do not require the FDA's prior approval but clinical trials of the disease treatment effects of HHF require prior approval from the FDA. In the USA, IRBs are managed by the Department of Health and Human Services (DHHS) rather than the FDA, and IRBs in those institutions which would execute the clinical trials requiring prior approval from the FDA or human studies funded by the USA federal government are required to be registered on the DHHS. In the UK, although the government does not require prior approval of human study, authorized RECs managed by the National Research Ethics Service (NRES) and other independent RECs review the human study. In Japan, human study for HFF must conform with "Ethical guidelines for epidemiological research" and IRB registration has not been required. In Korean domestic regulations, the responsibilities, compositions, functions and operations of IRBs on medicines, medical devices and biotechnology are legally specified, but not those of IRB on HHF. These foreign statuses for the management of human study on HFF and comparisons with Korean regulations are expected to be used as basic data to improve the domestic legal system.
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Humanos , Biotecnologia , Cosméticos , Comitês de Ética em Pesquisa , Ética em Pesquisa , Governo Federal , Administração Financeira , Alimento Funcional , Japão , Controle Social FormalRESUMO
BACKGROUND: In order to improve MRI volumetry of hippocampus, we obtained the Longitudinal Regional Volume Curve (LRVC) of hippocampi and compared the sensitivity of LRVC with those of conventional hippocampal volume-tries (total and regional) in temporal lobe epilepsy (TLE). METHODS: Thirty-eight normal subjects and 24 TLE patients were included in this study. The pathology of all patients showed hippocampal sclerosis. The volume of the hippocampus was measured by a manual tracing in 3 mm-thickness coronal MRI slices perpendicular to the long axis of the hippocampus and a three-dimensional reconstruction. Total volume and regional volumes (anterior, middle, and posterior 1/3) of the right and left hippocampi were measured. Then, the focal hippocampal volume of each of the coronal slices (3 mm) was plotted in a X-Y graph to obtain LRVC. The presence and pattern of HA were determined in LRVC. RESULTS: The mean volume of right hippocampus (2512+/-629 mm3) was bigger than that of the left one (2262.6+/-563.2 mm3) in normal subjects. The normal range of right-left total volume difference was 3.6~495.2 mm3. The sensitivities of conventional volumetry, regional volumetry, and LRVC were 66.7%, 75%, and 83.3%, respectively. Eleven patients showed diffuse HA (11/20, 55.0%) and nine had focal HA (9/20, 45.0%). In focal HA, the middle and posterior HA were more frequent (6/9, 66.7%) than anterior HA. CONCLUSIONS: LRVC improved the sensitivity of MRI volumetry in detecting hippocampal sclerosis and could reveal the pattern (diffuse or focal) of HA. (J Korean Neurol Assoc 19(2):125~131, 2001)
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Humanos , Vértebra Cervical Áxis , Epilepsia do Lobo Temporal , Hipocampo , Imageamento por Ressonância Magnética , Patologia , Valores de Referência , Esclerose , Lobo TemporalRESUMO
BACKGROUND: In order to improve MRI volumetry of hippocampus, we obtained the Longitudinal Regional Volume Curve (LRVC) of hippocampi and compared the sensitivity of LRVC with those of conventional hippocampal volume-tries (total and regional) in temporal lobe epilepsy (TLE). METHODS: Thirty-eight normal subjects and 24 TLE patients were included in this study. The pathology of all patients showed hippocampal sclerosis. The volume of the hippocampus was measured by a manual tracing in 3 mm-thickness coronal MRI slices perpendicular to the long axis of the hippocampus and a three-dimensional reconstruction. Total volume and regional volumes (anterior, middle, and posterior 1/3) of the right and left hippocampi were measured. Then, the focal hippocampal volume of each of the coronal slices (3 mm) was plotted in a X-Y graph to obtain LRVC. The presence and pattern of HA were determined in LRVC. RESULTS: The mean volume of right hippocampus (2512+/-629 mm3) was bigger than that of the left one (2262.6+/-563.2 mm3) in normal subjects. The normal range of right-left total volume difference was 3.6~495.2 mm3. The sensitivities of conventional volumetry, regional volumetry, and LRVC were 66.7%, 75%, and 83.3%, respectively. Eleven patients showed diffuse HA (11/20, 55.0%) and nine had focal HA (9/20, 45.0%). In focal HA, the middle and posterior HA were more frequent (6/9, 66.7%) than anterior HA. CONCLUSIONS: LRVC improved the sensitivity of MRI volumetry in detecting hippocampal sclerosis and could reveal the pattern (diffuse or focal) of HA. (J Korean Neurol Assoc 19(2):125~131, 2001)
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Humanos , Vértebra Cervical Áxis , Epilepsia do Lobo Temporal , Hipocampo , Imageamento por Ressonância Magnética , Patologia , Valores de Referência , Esclerose , Lobo TemporalRESUMO
BACKGROUND: The cut-off value which determine pass or fail in Wada memory test has not been thoroughly studied, especially in regard to modality-specific memory domains. To investigate the optimal cut-off value, we tried to know what value is appropriate to forecast good postoperative memory outcome in verbal and visual memory domains. METHODS: Eighteen temporal lobe epilepsy patients underwent preoperative Wada test and pre- and postoperative neuropsychological evaluation. Corrected Wada memory score (cWMS) was calculated by ipsilateral Wada retention score divided by pre-Wada score. As a measure of postoperative memory outcome, neuropsycholgical asymmetry index (NPAI) was defined as [(postoperative memory score ? Preoperative memory score) / their mean] and analyzed in verbal and visual memory domains respectively. We made six arbitrary cut-off cWMS values (40, 50, 60, 70, 80, and 90%) and dichotomized the patients into pass or fail group at each arbitrary cut-off value. Verbal and visual NPAIs were compared statistically between two groups. RESULTS: Verbal NPAIs were significantly different between pass and fail groups at 80% cut-off value (p=0.044). Visual NPAIs were significantly different between two groups at 50% (p=0.043) and 60% (p=0.003) cut-off values. CONCLUSIONS: Higher cut-off values may be better for differentiating good and poor postoperative memory outcomes in verbal memory domain, and, in contrast, lower cut-off values may be better in visual memory domain. The verbal and visual memory in Wada test should be analyzed with different cut-off values.
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Humanos , Epilepsia do Lobo Temporal , MemóriaRESUMO
BACKGROUND: Although hypometabolism of positron emission tomography (PET) helps lateralization of epileptic focus in temporal lobe epilepsy (TLE), the mechanism of PET hypometabolism (PET-Hypo) is still controversial. We investigated whether interictal spike frequency during distribution phase of 18F-fluorodeoxyglucose (DP-FDG) correlates with the degree of PET-Hypo in TLE. METHODS: FDG PET was performed in 21 TLE patients. In PET, polar, mesial, anterior, middle and posterior temporal ROIs (region of interests) were determined in superior, middle and inferior transtemporal planes. PET Asymmetry index (AI) of each ROI was obtained by (right-left)/(right+left) x 2. Scalp EEG was recorded from 30 min prior to FDG injection until the end of scanning. Interictal spikes on temporal electrodes (F7, F8, FT9, FT10, T3, T4, T5 and T6) were counted during DP-FDG. Left-Right difference of spike numbers on electrodes of both temporal regions was obtained by subtracting spike number of right temporal region from that of left side. RESULTS: Average number of interictal spikes during FDG-DP was 11.5 per patient. Distributions of spikes were anterior temporal (F7, F8, FT9, FT10):70.7%, mid-temporal (T3,T4):29.3%, posterior temporal (T5,T6):0%. Left-Right difference of spike number was strongly correlated with PET AI of whole temporal region (r=0.655, p=0.002). Lateralization of all PET-Hypo was concordant to that of interictal spike dominance during DP-FDG although 2 cases showed false lateralization of epileptic focus by PET. CONCLUSIONS: FDG PET hypometabolism was significantly correlated with DP-FDG interictal spike numbers. Anterior and polar temporal regions showed the best correlation. PET-Hypo may reflect not only permanent functional deficit but also transient regional cerebral dysfunction.
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Humanos , Eletrodos , Eletroencefalografia , Epilepsia do Lobo Temporal , Tomografia por Emissão de Pósitrons , Couro Cabeludo , Lobo TemporalRESUMO
Cerebrovascular complications are of the most frequent intracranial complications of bacterial meningitis. Most of the previous reports suggest that the prognosis for the pafients with cerebrovascular complications was unfavorable. We recently experienced a case of meningococcal meningitis with fulminant meningococcemia associated with multifocal non-enhancing lesions on, initial brain MRI. These lesions were hyperintense on T2weighted image and were located in left basal ganglia, both medial thalami, periventricular white matter, left cerebellar hemisphere, and right midbrain and were considered to be resulted from small vessel involvement. Gram negative diplococci were detected by Gram staining of specimens from skin lesion. After antimicrobial therapy and glucocorticoid replacement the patient was recovered without any neurologic sequelae. After one month, follow-up MRI showed resolution of all the ischemic lesions except in midbrain. Additionally there was a small focal hemtoma formation in left basal ganglia. The small hematoma was considered to be resulted from rupture of microaneurysm and disappeared on follow up MRI performed after 3 months. This case suggests that the cerebrovascular complications in meningococcal mningitis might be treated successfully.
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Humanos , Gânglios da Base , Encéfalo , Seguimentos , Hematoma , Imageamento por Ressonância Magnética , Meningite , Meningites Bacterianas , Meningite Meningocócica , Mesencéfalo , Prognóstico , Ruptura , PeleRESUMO
Huntington's disease(HD) is clinically diagnosed by the triad of autosomal dominant inheritance, involuntary movements mainly chorea, and dementia. The phenotype of HD is variable and other diseases can have the same phenocopy. A definite diagnosis of Huntington's disease cannot be made by clinical informations alone Pathologic or genetic studies was necessary to exclude other neurodegenerative diseases which may present with familial dementia or chorea. Therefore, genetic studies of HD become essential for confirmatory diagnosis. Recent discovery of an expanded CAG trinucleotide repeat at the telomeric position of chromosome 4p made the diagnosis possible even in sporadic and presymptomatic cases. We previously demonstrated expantion of CAG repeats in clinically diagnosed HD, and were able to find presymptomatic. We herein present the clinical and genetic information in all the cases of genetically confirmed HD. 1) There was a clear gap between the number of CAG repeats in HD and normal and disease control. 2) Two out of three patients who had chorea without family history were confirmed as HD by genetic study. 3) One who had psychosis and a family history of HD was shown not to be HD. 4) We found 12 asymptomatic cases with HD mutation during family screening. 5) Caudate atrophy in MRI was not seen in the early stage of HD. Our data confirms that gene analysis is a powerful tool to make a diagnosis of HD even in sporadic and presymptomatic cases. Proper genetic counselling after judicious preparation of the family and society is sorely needed.
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Humanos , Atrofia , Coreia , Demência , Diagnóstico , Discinesias , Doença de Huntington , Coreia (Geográfico) , Imageamento por Ressonância Magnética , Programas de Rastreamento , Doenças Neurodegenerativas , Fenótipo , Transtornos Psicóticos , Repetições de Trinucleotídeos , TestamentosRESUMO
Huntington's disease(HD) is clinically diagnosed by the triad of autosomal dominant inheritance, involuntary movements mainly chorea, and dementia. The phenotype of HD is variable and other diseases can have the same phenocopy. A definite diagnosis of Huntington's disease cannot be made by clinical informations alone Pathologic or genetic studies was necessary to exclude other neurodegenerative diseases which may present with familial dementia or chorea. Therefore, genetic studies of HD become essential for confirmatory diagnosis. Recent discovery of an expanded CAG trinucleotide repeat at the telomeric position of chromosome 4p made the diagnosis possible even in sporadic and presymptomatic cases. We previously demonstrated expantion of CAG repeats in clinically diagnosed HD, and were able to find presymptomatic. We herein present the clinical and genetic information in all the cases of genetically confirmed HD. 1) There was a clear gap between the number of CAG repeats in HD and normal and disease control. 2) Two out of three patients who had chorea without family history were confirmed as HD by genetic study. 3) One who had psychosis and a family history of HD was shown not to be HD. 4) We found 12 asymptomatic cases with HD mutation during family screening. 5) Caudate atrophy in MRI was not seen in the early stage of HD. Our data confirms that gene analysis is a powerful tool to make a diagnosis of HD even in sporadic and presymptomatic cases. Proper genetic counselling after judicious preparation of the family and society is sorely needed.
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Humanos , Atrofia , Coreia , Demência , Diagnóstico , Discinesias , Doença de Huntington , Coreia (Geográfico) , Imageamento por Ressonância Magnética , Programas de Rastreamento , Doenças Neurodegenerativas , Fenótipo , Transtornos Psicóticos , Repetições de Trinucleotídeos , TestamentosRESUMO
Extrapyramidal tract motor disorder in calcification of basal ganglia probably occurs when the deposition of acid mucopolysaccharides in the basal ganglia is severe enough to lead to neuronal loss. Basal ganglia calcification has been noted to occur with higher incidence and intensity in encephalitis lethargica, carbon monocide intoxication, anoxia, tuberous sclerosis, toxoplasmosis, hypothyroidism and hypoparathyroidism. The neurologic disorder is frequently reversible with treatment in patients with basal ganglia calcification who have hypoparathy-roidism. We report a patient with idiopathic hypoparathyroidism associated with bilateral calcification of the basal ganglia and athetoid movement. This is the first case report in Korea.
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Humanos , Hipóxia , Atetose , Gânglios da Base , Carbono , Cefonicida , Encefalite , Tratos Extrapiramidais , Glicosaminoglicanos , Hipoparatireoidismo , Hipotireoidismo , Incidência , Coreia (Geográfico) , Doenças do Sistema Nervoso , Neurônios , Toxoplasmose , Esclerose TuberosaRESUMO
5-Fluorouracil is one of the most commonly used anticancer drug. We report a case of leukoencephalopathy who had received 5-fluorouracil injection following operation of carcinoid tumor in intestine. The case had dementia, dysarthria and gait disturbance. Brain CT showed bilaterally symmetric diffuse low densities in the white matter of cerebrum and cytologic examination of cerebrospinal fluid was negative for malignancy. Discontinuation of 5- fluorouracil injection for several days and then improved the clinical symptoms.