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1.
Water Res ; 236: 119982, 2023 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-37087919

RESUMEN

Large uncertainties exist regarding the combined effects of pollution and impoundment on riverine greenhouse gas (GHG) emissions. It has also been debated whether river eutrophication can transform downstream estuaries into carbon sinks. To assess human impacts on the riverine and estuarine distributions of CO2, CH4, and N2O, two source-to-estuary surveys along three impounded rivers in Korea were combined with multiple samplings at five or six estuarine sites. The basin-wide surveys revealed predominant pollution effects generating localized hotspots of riverine GHGs along metropolitan areas. The localized pollution effect was pronounced in the lower Han River and estuary adjacent to Seoul, while the highest GHG levels in the upper Yeongsan traversing Gwangju were not carried over into the faraway estuary. CH4 levels were elevated across the eutrophic middle Nakdong reaches regulated by eight cascade weirs in contrast to undersaturated CO2 indicating enhanced phytoplankton production. The levels of all three GHGs tended to be higher in the Han estuary across seasons. Higher summer-time δ13C-CH4 values at some Nakdong and Yeongsan estuarine sites implied that temperature-enhanced CH4 production may have been dampened by increased CH4 oxidation. Our results suggest that the location and magnitude of pollution sources and impoundments control basin-specific longitudinal GHG distributions and estuarine carryover effects, warning against simple generalizations of eutrophic rivers and estuaries as carbon sinks.


Asunto(s)
Contaminantes Atmosféricos , Gases de Efecto Invernadero , Humanos , Gases de Efecto Invernadero/análisis , Contaminantes Atmosféricos/análisis , Estuarios , Dióxido de Carbono , Metano/análisis , Monitoreo del Ambiente , Óxido Nitroso/análisis
2.
Ann Neurol ; 93(6): 1082-1093, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-36700525

RESUMEN

OBJECTIVE: Brain somatic mutations in mTOR pathway genes are a major genetic etiology of focal cortical dysplasia type II (FCDII). Despite a greater ability to detect low-level somatic mutations in the brain by deep sequencing and analytics, about 40% of cases remain genetically unexplained. METHODS: We included 2 independent cohorts consisting of 21 patients with mutation-negative FCDII without apparent mutations on conventional deep sequencing of bulk brain. To find ultra-low level somatic variants or structural variants, we isolated cells exhibiting phosphorylation of the S6 ribosomal protein (p-S6) in frozen brain tissues using fluorescence-activated cell sorting (FACS). We then performed deep whole-genome sequencing (WGS; >90×) in p-S6+ cells in a cohort of 11 patients with mutation-negative. Then, we simplified the method to whole-genome amplification and target gene sequencing of p-S6+ cells in independent cohort of 10 patients with mutation-negative followed by low-read depth WGS (10×). RESULTS: We found that 28.6% (6 of 21) of mutation-negative FCDII carries ultra-low level somatic mutations (less than 0.2% of variant allele frequency [VAF]) in mTOR pathway genes. Our method showed ~34 times increase of the average mutational burden in FACS mediated enrichment of p-S6+ cells (average VAF = 5.84%) than in bulky brain tissues (average VAF = 0.17%). We found that 19% (4 of 21) carried germline structural variations in GATOR1 complex undetectable in whole exome or targeted gene sequencing. CONCLUSIONS: Our method facilitates the detection of ultra-low level somatic mutations, in specifically p-S6+ cells, and germline structural variations and increases the genetic diagnostic rate up to ~80% for the entire FCDII cohort. ANN NEUROL 2023;93:1082-1093.


Asunto(s)
Epilepsia , Displasia Cortical Focal , Humanos , Serina-Treonina Quinasas TOR/genética , Epilepsia/genética , Mutación/genética
3.
Water Res ; 228(Pt A): 119362, 2023 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-36427460

RESUMEN

Biodegradable dissolved organic carbon (BDOC) constitutes the most labile fraction of dissolved organic matter (DOM), which also functions as a source of CO2 emissions from inland waters. However, no systematic review is available on DOM indicators of BDOC and CO2 production potential. Optical and molecular indices can be used to track small changes in DOM composition during biodegradation. In this review, we identified four different methods for measuring BDOC together with their strengths and limitations. In addition, we discuss the potential of using documented optical indices based on absorption and fluorescence spectroscopy and molecular indices based on Fourier transform ion cyclotron mass spectrometry as proxies for estimating BDOC and biodegradation-induced CO2 production based on previously reported relationships in the literature. Many absorbance- and fluorescence-based indices showed inconsistent relationships with BDOC depending on watershed characteristics, hydrology, and anthropogenic impacts. Nevertheless, several indices, including specific UV absorbance at 254 nm (SUVA254), humification index (HIX), and terrestrial humic-like fluorescent DOM (FDOM) components, tended to have negative relationships with BDOC in tropical and temperate watersheds under baseflow or drought periods. Protein-like FDOM exhibited the strongest correlation with BDOC in different systems, except during storms and flood events. Despite the limited number of studies, DOM molecular indices exhibited consistent relationships with BDOC, suggesting that the relative abundance of aliphatic formulas and the molecular lability index could act as reliable proxies. The DOM optical indices explain up to 96% and 78% variability in BDOC and CO2, respectively; nonetheless, there were limited studies on molecular indices, which explain up to 74% variability in BDOC. Based on literature survey, we recommend several sensitive indices such as SUVA254, HIX, and terrestrial humic- and protein-like FDOM, which could be useful indicators of BDOC and dissolved CO2 in inland water. Future research should incorporate a wider range of geographic regions with various land use, hydrology, and anthropogenic disturbances to develop system- or condition-specific DOM optical or molecular proxies for better prediction of BDOC and CO2 emissions.


Asunto(s)
Dióxido de Carbono , Materia Orgánica Disuelta , Efectos Antropogénicos , Biodegradación Ambiental , Colorantes
4.
Gut Liver ; 16(6): 921-929, 2022 11 15.
Artículo en Inglés | MEDLINE | ID: mdl-36059091

RESUMEN

Background/Aims: We aimed to compare the differences in pediatric Crohn's disease (CD) and ulcerative colitis (UC) at diagnosis in Korea. Methods: This was a multicenter, registry-based, inception cohort study conducted at five centers in Korea between 2013 and 2017. Baseline demographics, clinical characteristics, and results from laboratory, endoscopic, radiologic examinations were compared between pediatric CD and UC patients who were <19 years old at diagnosis. Results: A total 307 patients were included (227 CD [73.9%] and 80 UC [26.1%]). The male to female ratio was 2.49:1 for CD, and 1.49:1 for UC (p=0.019). Median age at diagnosis was 14.4 years (interquartile range, 12.4 to 16.2) for CD, and 14.4 years (interquartile range, 11.7 to 16.5) for UC (p=0.962). Hematochezia was the only dominant symptom in UC patients compared to CD patients (86.2% vs 30.8%, p<0.001). White blood cell counts, platelet counts, erythrocyte sedimentation rate, and C-reactive protein levels were significantly higher, and serum albumin level was significantly lower in CD patients than in UC patient. Anti-Saccharomyces cerevisiae antibody was positive in 44.5% and 16.2% of CD and UC patients, respectively (p<0.001), and antineutrophil cytoplasmic antibody was positive in 15.0% and 58.8% of CD and UC patients, respectively (p<0.001). Terminal ileal involvement was prominent in CD, while rectal involvement was more prominent in UC. Small bowel involvement and perianal perforating diseases were also more prominent in CD. Conclusions: This is the first a multicenter study in Korea to compare the differences between pediatric CD and UC at diagnosis in Korea. A large-scale, national study is expected to better clarify these findings in the future.


Asunto(s)
Colitis Ulcerosa , Niño , Humanos , Masculino , Femenino , Adulto Joven , Adulto , Colitis Ulcerosa/diagnóstico , Estudios de Cohortes , República de Corea/epidemiología , Sistema de Registros
5.
Front Aging Neurosci ; 14: 875589, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35795232

RESUMEN

"Reserve" refers to the individual clinical differences in response to a neuropathological burden. We explored the behavioral reserve (BR) and associated neural substrates in 40 participants with behavioral variant frontotemporal dementia (bvFTD) who were assessed with the frontal behavioral inventory (FBI) and magnetic resonance imaging. Because neuroimaging abnormality showed a high negative correlation with the FBI negative (but not positive) symptom scores, we developed a linear model only to calculate the nBR (BR for negative symptoms) marker using neuroimaging abnormalities and the FBI score. Participants were divided into high nBR and low nBR groups based on the nBR marker. The FBI negative symptom score was lower in the high nBR group than in the low nBR group having the same neuroimaging abnormalities. However, the high nBR group noted a steeper decline in cortical atrophy and showed less atrophy in the left frontotemporal cortices than the low nBR group. In addition, the fractional anisotropy (FA) values were greater in the high nBR than in the low nBR group, except in the sensory-motor and occipital areas. We identified an nBR-related functional network composed of bilateral frontotemporal areas and the left occipital pole. We propose the concept of BR in bvFTD, and these findings can help predict the disease progression.

6.
Amyloid ; 29(4): 263-269, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-35652834

RESUMEN

BACKGROUND: In the present study, it was investigated whether autonomic dysfunction could predict prognosis in light-chain (AL) amyloidosis patients. PATIENTS AND METHODS: Seventy-two patients with biopsy-proven AL amyloidosis were included and underwent an autonomic function test (AFT) between January 2016 and June 2019. Autonomic failure was evaluated using the Composite Autonomic Severity Score (CASS). Survival curves and the three-year overall survival (OS) rate were estimated using the Kaplan-Meier curve, and the Cox proportional hazards regression method was used to evaluate the variables that influenced survival. RESULTS: Autonomic dysfunction was observed in 69 (96%) patients with AL amyloidosis, and the three-year OS rate was 67%. Generalised autonomic failure (GAF) was observed in 31 (43%) patients. In the Kaplan-Meier curve, the three-year OS rates in patients with sudomotor dysfunction or GAF were lower than that in control patients (35 vs. 84%, and 33 vs. 81%, respectively). In Cox proportional hazards regression model, female, bone marrow plasma cell percentage, left ventricular systolic dysfunction, and GAF were significant independent variables associated with survival. CONCLUSION: The results of this study indicate that GAF on the AFT is an independent adverse prognostic factor for survival in AL amyloidosis patients.


Asunto(s)
Amiloidosis , Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas , Humanos , Femenino , Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas/complicaciones , Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas/diagnóstico , Pronóstico , Amiloidosis/complicaciones , Estimación de Kaplan-Meier , Modelos de Riesgos Proporcionales
7.
Aliment Pharmacol Ther ; 55(8): 1008-1015, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35032047

RESUMEN

BACKGROUND: NUDT15 polymorphisms are associated with leukopenia during treatment with thiopurines. However, data regarding its effect on treatment outcomes are scarce. AIMS: To investigate the outcomes between NUDT15 normal and intermediate metabolisers in paediatric patients with Crohn's disease (CD) treated with a combination therapy of infliximab (IFX) and azathioprine (AZA). METHODS: In this retrospective observational study, 143 patients categorised into the NUDT15 normal and intermediate metaboliser groups were compared based on clinical remission (CR), biochemical remission (BR), mucosal healing (MH) at 1 year treatment, IFX trough levels (TLs), antibodies to IFX (ATIs), 6-thioguanine nucleotide (6-TGN) levels, loss of response (LOR) and IFX durability. RESULTS: No significant differences were observed between the groups in CR, BR, MH at 1 year, whereas IFX TLs and ATIs and 6-TGN levels were comparable. However, LOR (6.5% vs 27.7%, P = 0.025) was significantly lower and IFX durability significantly higher (96.8% vs 80.4% P = 0.027) in the intermediate group. Multivariable Cox proportional hazard regression analysis showed that ATI positivity (hazard ratio (HR): 4.76, 95% CI: 2.25-10.07, P < 0.001) and the NUDT15 metaboliser group was associated with LOR (HR: 0.18, 95% CI: 0.04-0.76, P = 0.019). The Kaplan-Meier survival curves showed that the LOR-free survival rate was significantly lower in normal metabolisers (log-rank test P = 0.009). CONCLUSION: NUDT15 intermediate metabolisers were associated with lower LOR in paediatric patients with CD treated with IFX and AZA combination therapy. This finding may partially explain the longer durability of IFX in Korean children than their counterparts in Western countries.


Asunto(s)
Enfermedad de Crohn , Azatioprina/uso terapéutico , Niño , Enfermedad de Crohn/tratamiento farmacológico , Enfermedad de Crohn/genética , Fármacos Gastrointestinales , Humanos , Infliximab , Resultado del Tratamiento
8.
Health Econ Policy Law ; 17(3): 332-347, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-34607626

RESUMEN

We investigated the impacts of Medicaid expansion on New York county total health spending and specifics of health spending, including health services, public health facilities and public health administration. Little research considered the financial effect of Medicaid expansion on local governments while well reported are its influences on uninsured rates and health services utilization. New York counties have contributed to health in their boundaries by providing or funding public health services, and supporting a part of the non-federal share of Medicaid expenditures and uncompensated care. Medicaid expansion can reduce the size of county expenditures for health by enrolling more previously uninsured population in the program and offering more generous federal funding for the expanded Medicaid. We offer empirical evidence that Medicaid expansion was associated with reduced county health spending.


Asunto(s)
Gastos en Salud , Medicaid , Humanos , Gobierno Local , New York , Atención no Remunerada , Estados Unidos
9.
Sci Total Environ ; 816: 151610, 2022 Apr 10.
Artículo en Inglés | MEDLINE | ID: mdl-34793807

RESUMEN

Anthropogenic perturbations are increasing uncertainties in estimating CO2 emissions via air-water CO2 flux (FCO2) from large rivers of the Indian subcontinent. This study aimed to provide an improved estimate of the total FCO2 from the subcontinental rivers by combining calculations of the partial pressure of CO2 (pCO2) in eight major rivers with new measurements in the Ganges and Godavari. The average pCO2 in the two newly surveyed rivers, including tributaries, wastewater drains, and impoundments, were 3-6 times greater than the previously reported values. In some highly polluted urban tributaries and middle reaches of the Ganges that drain metropolitan areas, the measured pCO2 exceeded 20,000 µatm, ~40 times the background levels of the headwaters originating in the carbonate-rich Himalayas. The high pCO2 above 28,000 µatm in the lower reach of the Godavari was seven times the moderate levels of pCO2 in the headwaters of the volcanic Deccan Traps, indicating enhanced CO2 production in soils and anthropogenic sources under favorable conditions for organic matter degradation. Across the northern rivers, pCO2 exhibited a significant negative relationship with dissolved oxygen, but a positive relationship with inorganic N or P concentrations. The strong influence of water pollution on riverine pCO2 suggests that CO2 emissions from hypoxic, eutrophic reaches can greatly exceed phytoplanktonic CO2 uptake. Spatially resolved pCO2 data, combined with three gas transfer velocity estimates, provided a higher range of FCO2 from the subcontinental rivers (100.9-130.2 Tg CO2 yr-1) than the previous estimates (7.5-61.2 Tg CO2 yr-1). The revised estimates representing 2-5% of the global riverine FCO2 illustrate the importance of the Indian subcontinental rivers under increasing anthropogenic pressures in constraining global inland waters FCO2.


Asunto(s)
Dióxido de Carbono , Monitoreo del Ambiente , Dióxido de Carbono/análisis , Presión Parcial , Ríos , Aguas Residuales
10.
Water Res ; 203: 117510, 2021 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-34375930

RESUMEN

Long-term trends in riverine nutrient availability have rarely been linked to both phytoplankton composition and functioning. To explore how the changing availability of N and P affects not only phytoplankton abundance and composition but also the resource use efficiency of N, P, and CO2, a 25-year time series of water quality in the lower Han River, Korea, was combined with additional measurements of riverine dissolved organic carbon (DOC) and CO2. Despite persistent eutrophication, recent decreases in P relative to N have been steep in the lowest reach, increasing the annual mean mass ratio of N to P (N/P) from 24 (1994-2015) to 65 (2016-2018). While Chl a and cyanobacterial abundance exhibited overall positive and inverse relationships with P concentrations and N/P, respectively, severe harmful algal blooms (HABs) concurred with short-term increases in P and temperature. Microcystis often dominated HABs at low N/P that usually favors N-fixing cyanobacteria such as Anabaena. In the middle and lower reaches, phytoplanktonic P use efficiency was typically lower at low N/P. V-shaped relationships between N/P and CO2 concentrations, together with longitudinal upward shifts in the inverse relationship between Chl a and CO2, implied that eutrophication-enhanced phytoplankton biomass could turn into a significant source of CO2. after passing a threshold. The combined results suggest that cyanobacterial dominance co-limited by P availability and temperature can lower planktonic P use efficiency, while enhancing riverine CO2 emissions at low N/P ratios.


Asunto(s)
Cianobacterias , Fitoplancton , Dióxido de Carbono , Eutrofización , Floraciones de Algas Nocivas , Lagos , Nutrientes
11.
Health Econ Policy Law ; 16(2): 201-215, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-32349843

RESUMEN

This research longitudinally examines the association between levels of state Medicaid prescription spending and the state strategies intended to constrain cost increases: the negotiated pricing strategy, as indicated by state rebate programs, and the price transparency strategy, as indicated by state operation of All-Payer Claims Databases. The findings demonstrate evidence that state Medicaid prescription spending is influenced by the negotiated pricing strategy, especially Managed Care Organization (MCO) rebates under the Patient Protection and Affordable Care Act, but not influenced by the price transparency strategy. State decisions for MCO rebates, such as carving prescription benefits into managed care benefits, were effective in containing levels of Medicaid prescription spending over time, while other single- and multi-state rebate programs were not. Based on these findings, state policymakers may consider utilizing the MCO rebate program to address increases in Medicaid prescription spending.


Asunto(s)
Control de Costos/métodos , Costos y Análisis de Costo , Programas Controlados de Atención en Salud/economía , Medicaid/economía , Medicamentos bajo Prescripción/economía , Costos de los Medicamentos , Patient Protection and Affordable Care Act , Mecanismo de Reembolso , Gobierno Estatal , Estados Unidos
12.
Intest Res ; 19(4): 472-477, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-33108856

RESUMEN

Crohn's disease (CD) presenting as gastric outlet obstruction is rare but serious clinical presentation of CD causing severe morbidity. However, there have been few case reports concerning this disorder in East Asian children and adolescents. The current case report describes 2 pediatric patients with CD who had had gastric outlet obstruction as an initial symptom of CD. Two pediatric patients developed postprandial vomiting, bloating, and unintentional weight loss. The upper endoscopy result indicated that there was pyloric obstruction with mucosal edema, inflammation and ulcers. The serologic test and colonoscopy results suggested CD. These patients were treated with infliximab, and endoscopic balloon dilation without surgery and showed remarkable improvement in obstructing symptoms with maintaining clinical and biochemical remission. This case report elucidates the benefits of early intervention using infliximab and endoscopic balloon dilation to improve gastric outlet obstruction and achieve baseline recovery in patients with upper gastrointestinal B2 phenotype of CD.

13.
Water Res ; 187: 116417, 2020 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-32987292

RESUMEN

Although eutrophic urban rivers receiving loads of wastewater represent an important anthropogenic source of N2O, little is known as to how temperature and other environmental factors affect temporal variations in N2O emissions from wastewater treatment plants (WWTPs) and downstream rivers. Two-year monitoring at a WWTP and five river sites was complemented with available water quality data, laboratory incubations, and stable isotopes in N2O and NO3- to explore how wastewater effluents interact with seasonal changes in environmental conditions to affect downstream metabolic processes and N2O emissions from the lower Han River traversing the megacity Seoul. Water quality data from four WWTPs revealed significant inverse relationships between water temperature and the concentrations or fluxes of total N (TN) in effluents. Increased TN fluxes at low temperatures concurred with N2O surges in WWTP effluents and downstream rivers, counteracting the long-term decline in TN fluxes resulting from enhanced wastewater treatments. Incubation experiments with river water and sediment, in isolation or combined, implied the hypoxic winter sediment as a large source of N2O, whereas the anoxic summer sediment produced a smaller amount of N2O only when it was added with oxic water. For both WWTP effluents and downstream rivers, bulk isotope ratios and intramolecular distribution of 15N in N2O distinctly differed between summer and winter, indicating incomplete denitrification in the hypoxic sediment at low temperatures as a primary downstream source adding to WWTP-derived N2O. Winter surges in wastewater TN and sediment N2O release highlight temperature variability as an underappreciated control over anthropogenic N2O emissions from increasingly urbanized river systems worldwide.


Asunto(s)
Óxido Nitroso , Purificación del Agua , Óxido Nitroso/análisis , Ríos , Temperatura , Aguas Residuales/análisis
14.
Environ Sci Pollut Res Int ; 27(34): 42582-42599, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32712940

RESUMEN

The Ganges River is one of the biggest transboundary streams in the Indian sub-continent. The significant part of this waterway channel drains one of the most densely populated areas on the planet so it is unequivocally influenced by human activities. Unprecedented high-temporal-resolution samples were collected for investigating the seasonal variability of water quality. Water quality index (WQI) reveals large seasonal variation among three major seasons and also indicates that the river water is not suitable for drinking and other household uses. The dominant water facies is bicarbonate (HCO3-). The water quality indices, %Na, Kelley's ratio (KR), sodium adsorption ratio (SAR), and magnesium adsorption ratio (MAR), reveal that the water is appropriate for irrigation. The permeability index (PI) indicated that the water is moderate to poorly useable for agricultural purposes. Heavy metals concentrations demonstrated significant seasonal variations with high concentrations during the monsoon due to flushing of pollutants from catchment areas by intense monsoonal precipitations. In addition, local activities such as oil spills from the boat, vehicle washing water, and agricultural runoff may also added pollutants. The single-factor pollution index (Ii) and Nemerow pollution index (Ni) exhibits minor pollution. The values of heavy metal pollution index (HPI) are far below than the critical limit (100) for the studied month, although relatively higher HPI values found for April, August, and November than other months might come from domestic wastes and agricultural activities. The heavy metal evaluation index (HEI) values of all the months indicated a low degree of pollution. Even though the river water pollution level is low, the authority should take proper management and monitoring strategy for sustainable use.


Asunto(s)
Metales Pesados , Contaminantes Químicos del Agua , Bangladesh , Monitoreo del Ambiente , Humanos , Metales Pesados/análisis , Ríos , Contaminantes Químicos del Agua/análisis , Calidad del Agua
15.
Brain Behav ; 9(7): e01337, 2019 07.
Artículo en Inglés | MEDLINE | ID: mdl-31158927

RESUMEN

OBJECTIVES: In screening studies of Western patients with cerebellar dysfunction, FMR1 premutations have been detected. A screening study of East Asian patients with presumed essential tremor (ET) did not detect these mutations, possibly because the ET patients did not closely mimic the phenotype of fragile X-associated tremor/ataxia syndrome (FXTAS). The aim of this study was to estimate the prevalence of FMR1 premutations in a carefully recruited group of ET patients with additional phenotypic features of FXTAS. MATERIALS AND METHODS: From April 2014 to April 2018, we prospectively recruited patients with ET diagnoses from three tertiary care centers. Demographic and clinical data were collected, as well as data on presence of cerebellar signs and extrapyramidal signs (EPS). Tremor, cerebellar signs, and EPS were evaluated using appropriate clinical rating scales. For ET patients with additional cerebellar signs or EPS, FMR1 mutation analysis and brain magnetic resonance imaging were performed. RESULTS: Six hundred and three ET patients were recruited. Cerebellar signs or EPS were present in 168 (27.9%) of 603. FMR1 CGG repeat analysis was performed in 74 of 168 patients. Fifty-two of 74 had cerebellar signs only, three had EPS only, and 19 had both neurologic abnormalities. Two patients had a FMR1 premutation and fulfiled both clinical and radiological criteria of FXTAS. CONCLUSIONS: Two (2.7%) of 74 patients with presumed ET and additional neurological features were discovered to have FXTAS. The possibility of FXTAS should be considered in patients with ET who exhibit mild cerebellar signs or EPS.


Asunto(s)
Ataxia/epidemiología , Cerebelo/diagnóstico por imagen , Cerebelo/fisiopatología , Temblor Esencial/epidemiología , Síndrome del Cromosoma X Frágil/epidemiología , Imagen por Resonancia Magnética/métodos , Temblor/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Prevalencia , Estudios Prospectivos
16.
Sci Total Environ ; 676: 105-119, 2019 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-31029895

RESUMEN

Dams and wastewater may greatly perturb riverine fluxes of dissolved organic matter (DOM) and CO2, yet little is known about the relationships between altered DOM quality and CO2 emission in eutrophic impounded river systems. A basin-wide field survey of surface water CO2 and dissolved organic carbon (DOC) was combined with laboratory incubations to examine how dams and urban tributaries delivering treated wastewater influence longitudinal patterns in DOM properties and CO2 along the impounded Han River traversing Seoul metropolitan area. Fluorescent DOM indices including parallel factor analysis (PARAFAC) components were used to characterize DOM in relation to biodegradable DOC (BDOC). Compared with distinct downstream increases in DOC and CO2, BDOC concentration and its proportion in DOC (%BDOC) were highly variable along the mainstem and peaked at urban tributaries. Longitudinal increases in fluorescence index (FI), biological index (BIX), and two PARAFAC components (C2 and C3) contrasted with general decreases in humification index (HIX) and C1, reflecting increasing downstream inputs of anthropogenic DOM. During a 5-day incubation employing continuous CO2 measurements, the cumulative production of CO2 in the mainstem water mixed with urban tributary water was significantly higher than the level expected for conservative mixing of the two samples, indicating a synergistic enhancement of DOM biodegradation. Molecular formulas identified by Fourier transform-ion cyclotron resonance-mass spectrometry (FT-ICR-MS) revealed more consumed molecules in the mainstem water and more newly produced molecules in the tributary water over the 5-day incubation, implying abundant labile components in the mainstem water discharged from the upstream dam and highly processed tributary DOM limited in immediately biodegradable organic materials. Downstream increases in CO2 and DOC along the Han River, combined with the synergistic effect observed in the mixed water, suggest that mixing wastewater-derived DOM with labile autochthonous DOM can enhance CO2 production in the river system perturbed by impoundment and wastewater.


Asunto(s)
Biodegradación Ambiental , Monitoreo del Ambiente , Contaminantes del Agua/análisis , Sustancias Húmicas/análisis , Ríos/química , Seúl , Aguas Residuales
17.
Parkinsonism Relat Disord ; 60: 87-91, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-30266299

RESUMEN

INTRODUCTION: Even though gait symptoms are prominent in patients diagnosed with multiple system atrophy with predominant parkinsonism (MSA-P) compared with Parkinson's disease (PD), the gait patterns of MSA-P were not clearly elucidated. We investigated postural instability and gait disturbances in MSA-P compared with PD. METHODS: We enrolled 34 drug-naïve patients with PD and 26 with MSA-P, and 18 normal controls in this study. Parkinsonism was evaluated by the Unified Parkinson's disease rating scale (UPDRS) part 3 and cognition was assessed with mini-mental status exam (MMSE). All the enrolled subjects underwent Pedoscan and GAITRite to objectively measure postural stability and gait. We compared the results of posturography and gait analysis among 3 groups, and performed correlation analysis of gait parameters with MMSE, UPDRS part 3 and posturography results. RESULTS: No difference was detected in demographic and clinical variables, except tremor sub-score of UPDRS part 3, urinary symptoms and orthostatic hypotension. MSA-P patients showed larger total anterior-posterior and lateral movement of centre of pressure (COP), and widened base of support than PD patients. In correlation analysis, MMSE score, axial sub-score of UPDRS part 3 and lateral movement of COP were correlated with gait parameters in PD patients, while only axial sub-score was associated in MSA-P patients after controlling for age, sex, height, body weight, education year, and disease duration. CONCLUSION: Even at an early stage, MSA-P patients demonstrated more postural instability and gait disturbance compared with PD patients, and the related factors with gait disturbance in PD and MSA-P might be different.


Asunto(s)
Trastornos Neurológicos de la Marcha/fisiopatología , Atrofia de Múltiples Sistemas/fisiopatología , Trastornos Parkinsonianos/fisiopatología , Equilibrio Postural/fisiología , Anciano , Fenómenos Biomecánicos , Femenino , Trastornos Neurológicos de la Marcha/diagnóstico , Trastornos Neurológicos de la Marcha/etiología , Humanos , Masculino , Persona de Mediana Edad , Atrofia de Múltiples Sistemas/complicaciones , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/fisiopatología , Trastornos Parkinsonianos/complicaciones
18.
Cephalalgia ; 39(6): 792-798, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-30099954

RESUMEN

BACKGROUND: Retinal migraine is an important differential diagnosis of recurrent transient monocular blindness accompanied by headache when other etiologies are excluded. Here, we report a case of orbital vasculitis which initially mimicked retinal migraine. CASE REPORT: A 47-year-old woman had recurrent episodes of fully reversible transient monocular blindness accompanied by ipsilateral headache for 15 months. The patient's neuroimaging and cardiac and ophthalmologic evaluations were normal. With a diagnosis of retinal migraine, her symptoms remitted in response to prophylactic treatment with topiramate and propranolol for 8 months. Three months after discontinuation of medications, transient monocular blindness recurred. High-resolution vessel wall magnetic resonance imaging revealed enhancement of the ipsilateral orbital vessels. Isolated orbital vasculitis was diagnosed. Complete remission of transient monocular blindness was achieved after steroid pulse therapy. DISCUSSION: Isolated orbital vasculitis should be considered in differential diagnosis of recurrent transient monocular blindness and ipsilateral headache. High-resolution vessel wall magnetic resonance imaging can be helpful for the diagnosis.


Asunto(s)
Amaurosis Fugax/etiología , Vasculitis/diagnóstico , Diagnóstico Diferencial , Femenino , Humanos , Persona de Mediana Edad , Trastornos Migrañosos/diagnóstico , Órbita/patología , Vasculitis/complicaciones
20.
Clin Neurol Neurosurg ; 173: 182-186, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-30149306

RESUMEN

OBJECTIVES: We aimed to provide evidence that subthalamic nucleus (STN) deep brain stimulation (DBS) is an effective and safe treatment option for older patients with Parkinson's disease (PD). PATIENTS AND METHODS: Bilateral STN DBS was performed in 55 patients with PD from 2012 to 2016 at Samsung Medical Center. We divided them into two groups based on the age at DBS: younger group (<65 years, n = 38) and older group (≥65 years, n = 17). For evaluating effectiveness, we compared pre- and post-DBS Unified Parkinson's Disease Rating Scale (UPDRS) part 3 and 4 scores and levodopa equivalent daily dose (LEDD) between the two groups. Additionally, surgery-related complications in each group were assessed. RESULTS: The mean age of the younger group was 56.7 ± 5.7 and that of the older group was 68.5 ± 2.9. More female patients underwent STN DBS in the younger group, but there were no differences in baseline characteristics. In terms of effectiveness, UPDRS part 3 and 4 scores and LEDD significantly improved 6 months after DBS in both groups. In terms of safety, 1 complication was observed in the younger group (2.6%), while 2 complications, including 1 subject with intracerebral hemorrhage, were observed in the older group (11.8%, p = 0.225). CONCLUSION: Based on our results, STN DBS can be applied in well-selected older patients with PD as well as in younger patients. However, despite the lack of statistical significance, more attention should be paid on surgical complications in the older group.


Asunto(s)
Encéfalo/cirugía , Estimulación Encefálica Profunda , Enfermedad de Parkinson/terapia , Adulto , Anciano , Envejecimiento , Estimulación Encefálica Profunda/métodos , Femenino , Humanos , Levodopa/uso terapéutico , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/fisiopatología , Núcleo Subtalámico/cirugía , Resultado del Tratamiento
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