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1.
Seizure ; 108: 49-52, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-37080124

RESUMEN

PURPOSE: People with epilepsy (PWE) are at increased risk of severe COVID-19. Assessing COVID-19 vaccine uptake is therefore important. We compared COVID-19 vaccination uptake for PWE in Wales with a matched control cohort. METHODS: We performed a retrospective, population, cohort study using linked, anonymised, Welsh electronic health records within the Secure Anonymised Information Linkage (SAIL) Databank (Welsh population=3.1 million).We identified PWE in Wales between 1st March 2020 and 31st December 2021 and created a control cohort using exact 5:1 matching (sex, age and socioeconomic status). We recorded 1st, 2nd and booster COVID-19 vaccinations. RESULTS: There were 25,404 adults with epilepsy (127,020 controls). 23,454 (92.3%) had a first vaccination, 22,826 (89.9%) a second, and 17,797 (70.1%) a booster. Comparative figures for controls were: 112,334 (87.8%), 109,057 (85.2%) and 79,980 (62.4%).PWE had higher vaccination rates in all age, sex and socioeconomic subgroups apart from booster uptake in older subgroups. Vaccination rates were higher in older subgroups, women and less deprived areas for both cohorts. People with intellectual disability and epilepsy had higher vaccination rates when compared with controls with intellectual disability. CONCLUSIONS: COVID-19 vaccination uptake for PWE in Wales was higher than that for a matched control group.


Asunto(s)
COVID-19 , Epilepsia , Discapacidad Intelectual , Adulto , Humanos , Femenino , Anciano , Estudios de Cohortes , Vacunas contra la COVID-19 , Estudios Retrospectivos , Gales/epidemiología , COVID-19/prevención & control , Epilepsia/epidemiología , Vacunación
2.
Appl Opt ; 61(14): 4215-4225, 2022 May 10.
Artículo en Inglés | MEDLINE | ID: mdl-36256099

RESUMEN

During 2019, an infrared camera, the compact thermal imager (CTI), recorded 15 million images of the Earth from the International Space Station. CTI is based on strained-layer superlattice (SLS) detector technology. The camera covered the spectral range from 3 to 11 µm in two spectral channels, 3.3-5.4 and 7.8-10.7 µm. Individual image frames were 26×21km2 projected on the ground, with 82 m pixel resolution. A frame time of 2.54 s created continuous image swaths with a 13% along-track image overlap. Upper limits determined on the ground and in flight for the electronic offset, read noise, and dark current demonstrated the stability of the SLS detector and camera over many months. Temperature calibration was established using a combination of preflight and in-flight measurements. A narrowband approximation of temperature as a function of photon counts produced an analytic relationship covering a temperature range of 0°-400°C. Examples of CTI images illustrate temperature retrievals over sea ice, urban and agricultural areas, desert, and wildfires.

3.
Science ; 367(6481)2020 02 28.
Artículo en Inglés | MEDLINE | ID: mdl-32054693

RESUMEN

The outer Solar System object (486958) Arrokoth (provisional designation 2014 MU69) has been largely undisturbed since its formation. We studied its surface composition using data collected by the New Horizons spacecraft. Methanol ice is present along with organic material, which may have formed through irradiation of simple molecules. Water ice was not detected. This composition indicates hydrogenation of carbon monoxide-rich ice and/or energetic processing of methane condensed on water ice grains in the cold, outer edge of the early Solar System. There are only small regional variations in color and spectra across the surface, which suggests that Arrokoth formed from a homogeneous or well-mixed reservoir of solids. Microwave thermal emission from the winter night side is consistent with a mean brightness temperature of 29 ± 5 kelvin.

4.
Science ; 367(6481)2020 02 28.
Artículo en Inglés | MEDLINE | ID: mdl-32054694

RESUMEN

The Cold Classical Kuiper Belt, a class of small bodies in undisturbed orbits beyond Neptune, is composed of primitive objects preserving information about Solar System formation. In January 2019, the New Horizons spacecraft flew past one of these objects, the 36-kilometer-long contact binary (486958) Arrokoth (provisional designation 2014 MU69). Images from the flyby show that Arrokoth has no detectable rings, and no satellites (larger than 180 meters in diameter) within a radius of 8000 kilometers. Arrokoth has a lightly cratered, smooth surface with complex geological features, unlike those on previously visited Solar System bodies. The density of impact craters indicates the surface dates from the formation of the Solar System. The two lobes of the contact binary have closely aligned poles and equators, constraining their accretion mechanism.

5.
Astrophys J Lett ; 854(2)2018 Feb 20.
Artículo en Inglés | MEDLINE | ID: mdl-32373309

RESUMEN

In this paper we report the monitoring of seasonal evolution near Titan's poles. We find Titan's south pole to exhibit since 2010 a strong temperature decrease and a dramatic enhancement of several trace species such as complex hydrocarbons and nitriles (HC3N and C6H6 in particular) previously only observed at high northern latitudes (Coustenis et al. 2016 and references therein). This results from the seasonal change on Titan going from winter (2002) to summer (2017) in the north and, at the same time, the onset of winter in the south pole. During this transition period atmospheric components with longer chemical lifetimes linger in the north undergoing slow photochemical destruction, while those with shorter lifetimes decrease and reappear in the south. An opposite effect was expected in the north, but not observed with certainty until now. We present here an analysis of high-resolution nadir spectra acquired by Cassini/CIRS at in the past years and describe the temperature and composition variations near Titan's poles. From 2013 until 2016, the northern polar region has shown a temperature increase of 10 K, while the south has shown a more significant decrease (up to 25 K) in a similar period of time. While the south polar region is continuously enhanced since about 2012, the chemical content in the north is finally showing a clear depletion for most molecules only since 2015. This is indicative of a non-symmetrical response to the seasons in Titan's stratosphere that can set constraints on photochemical and GCM models.

6.
Epidemiol Infect ; 145(15): 3115-3124, 2017 11.
Artículo en Inglés | MEDLINE | ID: mdl-28965516

RESUMEN

As part of further investigations into three linked haemorrhagic fever with renal syndrome (HFRS) cases in Wales and England, 21 rats from a breeding colony in Cherwell, and three rats from a household in Cheltenham were screened for hantavirus. Hantavirus RNA was detected in either the lungs and/or kidney of 17/21 (81%) of the Cherwell rats tested, higher than previously detected by blood testing alone (7/21, 33%), and in the kidneys of all three Cheltenham rats. The partial L gene sequences obtained from 10 of the Cherwell rats and the three Cheltenham rats were identical to each other and the previously reported UK Cherwell strain. Seoul hantavirus (SEOV) RNA was detected in the heart, kidney, lung, salivary gland and spleen (but not in the liver) of an individual rat from the Cherwell colony suspected of being the source of SEOV. Serum from 20/20 of the Cherwell rats and two associated HFRS cases had high levels of SEOV-specific antibodies (by virus neutralisation). The high prevalence of SEOV in both sites and the moderately severe disease in the pet rat owners suggest that SEOV in pet rats poses a greater public health risk than previously considered.


Asunto(s)
Fiebre Hemorrágica con Síndrome Renal/veterinaria , Orthohantavirus , Ratas/virología , Adulto , Animales , Inglaterra/epidemiología , Femenino , Orthohantavirus/genética , Fiebre Hemorrágica con Síndrome Renal/epidemiología , Humanos , Riñón/virología , Pulmón/virología , Masculino , Filogenia , Prevalencia , Gales/epidemiología
7.
Appl Opt ; 56(18): 5274-5294, 2017 Jun 20.
Artículo en Inglés | MEDLINE | ID: mdl-29047582

RESUMEN

The Cassini spacecraft orbiting Saturn carries the composite infrared spectrometer (CIRS) designed to study thermal emission from Saturn and its rings and moons. CIRS, a Fourier transform spectrometer, is an indispensable part of the payload providing unique measurements and important synergies with the other instruments. It takes full advantage of Cassini's 13-year-long mission and surpasses the capabilities of previous spectrometers on Voyager 1 and 2. The instrument, consisting of two interferometers sharing a telescope and a scan mechanism, covers over a factor of 100 in wavelength in the mid and far infrared. It is used to study temperature, composition, structure, and dynamics of the atmospheres of Jupiter, Saturn, and Titan, the rings of Saturn, and surfaces of the icy moons. CIRS has returned a large volume of scientific results, the culmination of over 30 years of instrument development, operation, data calibration, and analysis. As Cassini and CIRS reach the end of their mission in 2017, we expect that archived spectra will be used by scientists for many years to come.

9.
Parkinsonism Relat Disord ; 43: 61-66, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28747279

RESUMEN

INTRODUCTION: Objective, portable measures of motor function for out-of-office assessments are needed in Parkinson's Disease (PD). This study had 3 objectives. First, to examine change in objective motor measurements in PD (as assessed with the Objective PD Measurement (OPDM) system). Second, to correlate objective measures with clinical features and putative PD cerebrospinal fluid (CSF) and dopaminergic imaging biomarkers. Third, to assess participant compliance with and perceptions of serial in-home motor assessments. METHODS: De novo PD subjects participating in this pilot study of the Parkinson Progression Markers Initiative (PPMI) completed OPDM assessments at home weekly for 3 months and in the clinic at baseline and 3-, 6-, and 12-months. Tasks included (i)digitography (ii)a repetitive hand tapping task and (iii)timed pegboard task. A global objective motor score (OMS) was derived from the latter three. MDS-UPDRS-III score was obtained at each time point, and CSF and dopamine transporter (DAT) SPECT at baseline. RESULTS: 27 participants, mean age 62.6 years, 19 male were included. A mean of 10.5 in-home assessments were completed. There was no significant change in in-home OMS over 12 weeks (p = 0.48). There was strong correlation between mean baseline OMS and MDS-UPDRS-III scores (spearman's rho = 0.60, p=<0.0001). Baseline OMS predicted 6-month MDS-UPDRS-III (ß = 0.80, p = 0.0002) but not change in MDS-UPDRS-III score, DAT SPECT, or putative CSF biomarkers. CONCLUSIONS: This study suggests that administration of in-home motor tasks as part of a large multi-center study is feasible and scores derived from these assessments may serve as surrogates of in-person clinician-assessed motor score.


Asunto(s)
Mano/fisiopatología , Movimiento/fisiología , Enfermedad de Parkinson/patología , Enfermedad de Parkinson/fisiopatología , Desempeño Psicomotor/fisiología , Adulto , Anciano , Anciano de 80 o más Años , Progresión de la Enfermedad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Examen Físico , Índice de Severidad de la Enfermedad
11.
Science ; 351(6279): aae0030, 2016 Mar 18.
Artículo en Inglés | MEDLINE | ID: mdl-26989256

RESUMEN

The New Horizons mission has provided resolved measurements of Pluto's moons Styx, Nix, Kerberos, and Hydra. All four are small, with equivalent spherical diameters of ~40 kilometers for Nix and Hydra and ~10 kilometers for Styx and Kerberos. They are also highly elongated, with maximum to minimum axis ratios of ~2. All four moons have high albedos (~50 to 90%) suggestive of a water-ice surface composition. Crater densities on Nix and Hydra imply surface ages of at least 4 billion years. The small moons rotate much faster than synchronous, with rotational poles clustered nearly orthogonal to the common pole directions of Pluto and Charon. These results reinforce the hypothesis that the small moons formed in the aftermath of a collision that produced the Pluto-Charon binary.

12.
Science ; 351(6279): aad9189, 2016 Mar 18.
Artículo en Inglés | MEDLINE | ID: mdl-26989260

RESUMEN

The New Horizons spacecraft mapped colors and infrared spectra across the encounter hemispheres of Pluto and Charon. The volatile methane, carbon monoxide, and nitrogen ices that dominate Pluto's surface have complicated spatial distributions resulting from sublimation, condensation, and glacial flow acting over seasonal and geological time scales. Pluto's water ice "bedrock" was also mapped, with isolated outcrops occurring in a variety of settings. Pluto's surface exhibits complex regional color diversity associated with its distinct provinces. Charon's color pattern is simpler, dominated by neutral low latitudes and a reddish northern polar region. Charon's near-infrared spectra reveal highly localized areas with strong ammonia absorption tied to small craters with relatively fresh-appearing impact ejecta.

13.
J Med Entomol ; 52(5): 937-46, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26336244

RESUMEN

Determining the time of colonization of human or other animal remains by blow flies (Diptera: Calliphoridae) can play an important role in criminal investigations. However, blow fly presence in a given area is strongly influenced by abiotic and biotic variables such as temperature and habitat. We wanted to assess the biodiversity of adult blow flies in New Jersey, USA, where very little is known about these taxa. Toward that end we collected adult blow flies biweekly from traps baited with bovine liver and placed across three regions in New Jersey over a 2-yr period (2011-2013). We collected and identified 9,257 adult calliphorids, comprising six genera and 12 species. Blow fly assemblages composed of these species varied by season, but community composition did not vary among regions within a given season. Three species, Lucilia coeruleiviridis (Macquart), Lucilia sericata (Meigen), and Phormia regina (Meigen) comprised 88.5% of all adult blow flies collected (42.6, 25.9, 20.0%, respectively). Combining all regions, the dominant species for both spring and summer was L. coeruleiviridis comprising 35.1% of all adults caught in spring and 64.1% in summer. P. regina was the dominant species in fall, totaling 40.1% of all adults caught and Calliphora vicina (Robineau-Desvoidy) was the dominant species for winter, totaling 44.8% of all adults caught. Our findings provide the first assessment of blow fly communities in New Jersey, and these results can be applied to surrounding states where data are severely lacking for forensic application.


Asunto(s)
Biodiversidad , Dípteros/fisiología , Estaciones del Año , Animales , Dípteros/crecimiento & desarrollo , Entomología , Ciencias Forenses , Geografía , Larva/crecimiento & desarrollo , Larva/fisiología , New Jersey , Óvulo/crecimiento & desarrollo , Óvulo/fisiología
14.
Bull Entomol Res ; 105(5): 598-606, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26072908

RESUMEN

Emerald ash borer (EAB), Agrilus planipennis, is a serious invasive forest pest in North America responsible for killing tens to hundreds of millions of ash trees since it was accidentally introduced in the 1990 s. Although host-plant resistance and natural enemies are known to be important sources of mortality for EAB in Asia, less is known about the importance of different sources of mortality at recently colonized sites in the invaded range of EAB, and how these relate to host tree crown condition. To further our understanding of EAB population dynamics, we used a large-scale field experiment and life-table analyses to quantify the fates of EAB larvae and the relative importance of different biotic mortality factors at 12 recently colonized sites in Maryland. We found that the fates of larvae were highly dependent on EAB life stage and host tree crown condition. In relatively healthy trees (i.e., with a low EAB infestation) and for early instars, host tree resistance was the most important mortality factor. Conversely, in more unhealthy trees (i.e., with a moderate to high EAB infestation) and for later instars, parasitism and predation were the major sources of mortality. Life-table analyses also indicated how the lack of sufficient levels of host tree resistance and natural enemies contribute to rapid population growth of EAB at recently colonized sites. Our findings provide further evidence of the mechanisms by which EAB has been able to successfully establish and spread in North America.


Asunto(s)
Escarabajos/fisiología , Fraxinus/fisiología , Estadios del Ciclo de Vida/fisiología , Animales , Larva/fisiología , Dinámica Poblacional
15.
Transl Psychiatry ; 4: e441, 2014 Sep 16.
Artículo en Inglés | MEDLINE | ID: mdl-25226550

RESUMEN

Single, severe traumatic brain injury (TBI) which elevates CNS amyloid, increases the risk of Alzheimer's disease (AD); while repetitive concussive and subconcussive events as observed in athletes and military personnel, may increase the risk of chronic traumatic encephalopathy (CTE). We describe two clinical cases, one with a history of multiple concussions during a career in the National Football League (NFL) and the second with frontotemporal dementia and a single, severe TBI. Both patients presented with cognitive decline and underwent [(18)F]-Florbetapir positron emission tomography (PET) imaging for amyloid plaques; the retired NFL player also underwent [(18)F]-T807 PET imaging, a new ligand binding to tau, the main constituent of neurofibrillary tangles (NFT). Case 1, the former NFL player, was 71 years old when he presented with memory impairment and a clinical profile highly similar to AD. [(18)F]-Florbetapir PET imaging was negative, essentially excluding AD as a diagnosis. CTE was suspected clinically, and [(18)F]-T807 PET imaging revealed striatal and nigral [(18)F]-T807 retention consistent with the presence of tauopathy. Case 2 was a 56-year-old man with personality changes and cognitive decline who had sustained a fall complicated by a subdural hematoma. At 1 year post injury, [(18)F]-Florbetapir PET imaging was negative for an AD pattern of amyloid accumulation in this subject. Focal [(18)F]-Florbetapir retention was noted at the site of impact. In case 1, amyloid imaging provided improved diagnostic accuracy where standard clinical and laboratory criteria were inadequate. In that same case, tau imaging with [(18)F]-T807 revealed a subcortical tauopathy that we interpret as a novel form of CTE with a distribution of tauopathy that mimics, to some extent, that of progressive supranuclear palsy (PSP), despite a clinical presentation of amnesia without any movement disorder complaints or signs. A key distinguishing feature is that our patient presented with hippocampal involvement, which is more frequently seen in CTE than in PSP. In case 2, focal [(18)F]-Florbetapir retention at the site of injury in an otherwise negative scan suggests focal amyloid aggregation. In each of these complex cases, a combination of [(18)F]-fluorodeoxyglucose, [(18)F]-Florbetapir and/or [(18)F]-T807 PET molecular imaging improved the accuracy of diagnosis and prevented inappropriate interventions.


Asunto(s)
Lesión Encefálica Crónica/diagnóstico por imagen , Traumatismos Craneocerebrales/diagnóstico por imagen , Fútbol Americano , Demencia Frontotemporal/diagnóstico por imagen , Placa Amiloide/diagnóstico por imagen , Tomografía de Emisión de Positrones , Anciano , Compuestos de Anilina , Encéfalo/diagnóstico por imagen , Conmoción Encefálica/complicaciones , Lesión Encefálica Crónica/complicaciones , Traumatismos Craneocerebrales/complicaciones , Glicoles de Etileno , Demencia Frontotemporal/complicaciones , Humanos , Masculino , Persona de Mediana Edad , Radiofármacos , Tauopatías/diagnóstico por imagen
16.
Reprod Biomed Online ; 26(1): 68-78, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-23200202

RESUMEN

Sperm DNA damage has a negative impact on pregnancy rates following assisted reproduction treatment (ART). The aim of the present study was to examine the relationship between sperm DNA fragmentation and live-birth rates after IVF and intracytoplasmic sperm injection (ICSI). The alkaline Comet assay was employed to measure sperm DNA fragmentation in native semen and in spermatozoa following density-gradient centrifugation in semen samples from 203 couples undergoing IVF and 136 couples undergoing ICSI. Men were divided into groups according to sperm DNA damage. Following IVF, couples with <25% sperm DNA fragmentation had a live-birth rate of 33%; in contrast, couples with >50% sperm DNA fragmentation had a much lower live-birth rate of 13%. Following ICSI, no significant differences in sperm DNA damage were found between any groups of patients. Sperm DNA damage was also associated with low live-birth rates following IVF in both men and couples with idiopathic infertility: 39% of couples and 41% of men with idiopathic infertility have high sperm DNA damage. Sperm DNA damage assessed by the Comet assay has a close inverse relationship with live-birth rates after IVF. Sperm DNA damage has a negative impact on assisted reproduction treatment outcome, in particular, on pregnancy rates. The aim of the present study was to examine the relationship between sperm DNA fragmentation and live-birth rates after IVF and intracytoplasmic sperm injection (ICSI). The alkaline Comet assay was employed to measure sperm DNA fragmentation in native semen and in spermatozoa following density-gradient centrifugation in semen samples from 203 couples undergoing IVF and 136 couples undergoing ICSI. Men were divided into groups according to sperm DNA damage and treatment outcome. Following IVF, couples with <25% sperm DNA fragmentation had a live birth rate of 33%. In contrast, couples with >50% sperm DNA fragmentation had a much lower live-birth rate of 13% following IVF. Following ICSI, there were no significant differences in levels of sperm DNA damage between any groups of patients. Sperm DNA damage was also associated with the very low live-birth rates following IVF in both men and couples with idiopathic infertility: 39% of couples and 41% of men have high level of sperm DNA damage. Sperm DNA damage assessed by the Comet assay has a close inverse relationship with live-birth rates after IVF.


Asunto(s)
Fragmentación del ADN , Fertilización In Vitro , Índice de Embarazo , Espermatozoides/fisiología , Adulto , Ensayo Cometa , Femenino , Humanos , Nacimiento Vivo , Masculino , Embarazo , Reproducibilidad de los Resultados , Análisis de Semen
17.
Neurology ; 78(18): 1434-40, 2012 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-22442429

RESUMEN

OBJECTIVE: To assess the cognitive phenotype of glucocerebrosidase (GBA) mutation carriers with early-onset Parkinson disease (PD). METHODS: We administered a neuropsychological battery and the University of Pennsylvania Smell Identification Test (UPSIT) to participants in the CORE-PD study who were tested for mutations in PARKIN, LRRK2, and GBA. Participants included 33 GBA mutation carriers and 60 noncarriers of any genetic mutation. Primary analyses were performed on 26 GBA heterozygous mutation carriers without additional mutations and 39 age- and PD duration-matched noncarriers. Five cognitive domains, psychomotor speed, attention, memory, visuospatial function, and executive function, were created from transformed z scores of individual neuropsychological tests. Clinical diagnoses (normal, mild cognitive impairment [MCI], dementia) were assigned blind to genotype based on neuropsychological performance and functional impairment as assessed by the Clinical Dementia Rating (CDR) score. The association between GBA mutation status and neuropsychological performance, CDR, and clinical diagnoses was assessed. RESULTS: Demographics, UPSIT, and Unified Parkinson's Disease Rating Scale-III performance did not differ between GBA carriers and noncarriers. GBA mutation carriers performed more poorly than noncarriers on the Mini-Mental State Examination (p = 0.035), and on the memory (p = 0.017) and visuospatial (p = 0.028) domains. The most prominent differences were observed in nonverbal memory performance (p < 0.001). Carriers were more likely to receive scores of 0.5 or higher on the CDR (p < 0.001), and a clinical diagnosis of either MCI or dementia (p = 0.004). CONCLUSION: GBA mutation status may be an independent risk factor for cognitive impairment in patients with PD.


Asunto(s)
Disfunción Cognitiva/genética , Análisis Mutacional de ADN , Tamización de Portadores Genéticos , Glucosilceramidasa/genética , Pruebas Neuropsicológicas , Enfermedad de Parkinson/genética , Adulto , Enfermedades de los Ganglios Basales/diagnóstico , Enfermedades de los Ganglios Basales/genética , Disfunción Cognitiva/diagnóstico , Demencia/diagnóstico , Demencia/genética , Trastorno Depresivo/diagnóstico , Trastorno Depresivo/genética , Femenino , Pruebas Genéticas , Genotipo , Humanos , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina , Masculino , Trastornos de la Memoria/diagnóstico , Trastornos de la Memoria/genética , Escala del Estado Mental , Persona de Mediana Edad , Trastornos del Olfato/diagnóstico , Trastornos del Olfato/genética , Enfermedad de Parkinson/diagnóstico , Fenotipo , Proteínas Serina-Treonina Quinasas/genética , Ubiquitina-Proteína Ligasas/genética , beta-Glucosidasa/genética
18.
Q J Nucl Med Mol Imaging ; 56(1): 4-16, 2012 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-22460156

RESUMEN

The central role of dopamine neuronal loss in Parkinson's disease provides a clear pathologic framework and rationale for imaging the system both to interrogate dynamic pathophysiologic changes as well as to aid in diagnosis and clinical management. Recent post mortem studies of Parkinson's brain provide a much fuller depiction of the inexorable and progressive topology of pathophysiologic changes, including brain alpha-synuclein deposition. This informs PET and SPECT evaluations for testing hypotheses regarding the course of degeneration in longitudinal studies of Parkinson's disease patients. Recent work has underscored the subtlety of change in the dopaminergic neuronal system and its neural connections as a function of disease status and treatment. The interplay between other neurochemical brain systems and dopamine elucidates potential new targets for therapeutic intervention across the stages of the disease.


Asunto(s)
Encéfalo/diagnóstico por imagen , Neuronas Dopaminérgicas/patología , Enfermedad de Parkinson/diagnóstico por imagen , Encéfalo/metabolismo , Humanos , Degeneración Nerviosa/diagnóstico por imagen , Enfermedad de Parkinson/metabolismo , Tomografía de Emisión de Positrones , Tomografía Computarizada de Emisión de Fotón Único , alfa-Sinucleína/metabolismo
19.
Parkinsonism Relat Disord ; 17(10): 740-4, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-21856206

RESUMEN

BACKGROUND: Mutations in parkin are a known genetic risk factor for early onset Parkinson's disease (EOPD) but their role in non-motor manifestations is not well established. Genetic factors for depression are similarly not well characterized. We investigate the role of parkin mutations in depression among those with EOPD and their relatives. METHODS: We collected psychiatric information using the Patient Health Questionnaire and Beck Depression Inventory II on 328 genotyped individuals including 88 probands with early onset PD (41 with parkin mutations, 47 without) and 240 first and second-degree relatives without PD. RESULTS: Genotype was not associated with depression risk among probands. Among unaffected relatives of EOPD cases, only compound heterozygotes (n = 4), and not heterozygotes, had significantly increased risk of depressed mood (OR = 14.1; 95% CI 1.2-163.4), moderate to severe depression (OR = 17.8; 95% CI 1.0-332.0), depression (score ≥ 15) on the Beck Depression Inventory II (BDI-II) (OR = 51.9; 95% CI 4.1-657.4), and BDI-II total depression score (ß = 8.4; 95% CI 2.4-11.3) compared to those without parkin mutations. CONCLUSIONS: Relatives of EOPD cases with compound heterozygous mutations and without diagnosed PD may have a higher risk of depression compared to relatives without parkin mutations. These findings support evidence of a genetic contribution to depression and may extend the phenotypic spectrum of parkin mutations to include non-motor manifestations that precede the development of PD.


Asunto(s)
Depresión/genética , Predisposición Genética a la Enfermedad/genética , Enfermedad de Parkinson/genética , Enfermedad de Parkinson/psicología , Ubiquitina-Proteína Ligasas/genética , Adulto , Edad de Inicio , Análisis Mutacional de ADN , Femenino , Genotipo , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa Multiplex , Mutación , Pruebas Neuropsicológicas , Fenotipo , Factores de Riesgo
20.
Neurology ; 76(4): 319-26, 2011 Jan 25.
Artículo en Inglés | MEDLINE | ID: mdl-21205674

RESUMEN

BACKGROUND: While Parkinson disease (PD) is consistently associated with impaired olfaction, one study reported better olfaction among Parkin mutation carriers than noncarriers. Whether olfaction differs between Parkin mutation heterozygotes and carriers of 2 Parkin mutations (compound heterozygotes) is unknown. OBJECTIVE: To assess the relationship between Parkin genotype and olfaction in PD probands and their unaffected relatives. METHODS: We administered the University of Pennsylvania Smell Identification Test (UPSIT) to 44 probands in the Consortium on Risk for Early-Onset Parkinson Disease study with PD onset ≤50 years (10 Parkin mutation heterozygotes, 9 compound heterozygotes, 25 noncarriers) and 80 of their family members (18 heterozygotes, 2 compound heterozygotes, 60 noncarriers). In the probands, linear regression was used to assess the association between UPSIT score (outcome) and Parkin genotype (predictor), adjusting for covariates. Among family members without PD, we compared UPSIT performance in heterozygotes vs noncarriers using generalized estimating equations, adjusting for family membership, age, gender, and smoking. RESULTS: Among probands with PD, compound heterozygotes had higher UPSIT scores (31.9) than heterozygotes (20.1) or noncarriers (19.9) (p < 0.001). These differences persisted after adjustment for age, gender, disease duration, and smoking. Among relatives without PD, UPSIT performance was similar in heterozygotes (32.5) vs noncarriers (32.4), and better than in heterozygotes with PD (p = 0.001). CONCLUSION: Olfaction is significantly reduced among Parkin mutation heterozygotes with PD but not among their heterozygous relatives without PD. Compound heterozygotes with PD have olfaction within the normal range. Further research is required to assess whether these findings reflect different neuropathology in Parkin mutation heterozygotes and compound heterozygotes.


Asunto(s)
Enfermedad de Parkinson/genética , Olfato , Ubiquitina-Proteína Ligasas/genética , Adulto , Femenino , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Mutación , Enfermedad de Parkinson/fisiopatología
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