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1.
Neuropsychol Rev ; 2024 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-38639880

RESUMO

Reading difficulties are amongst the most commonly reported problems in individuals with homonymous visual field defects (HVFDs). To be able to provide guidance for healthcare professionals considering offering reading training, researchers in this field and interested individuals with HVFDs, this systematic review aims to (1) provide an overview of the contextual and intervention characteristics of all published HVFD interventions and (2) generate insights into the different reading outcome measures that these studies adopted. A search on PsycINFO, MEDLINE and Web of Science was conducted up to February 2, 2023. All intervention studies for HVFD in which reading was measured were included. Data was collected about the intervention type, session duration, number of sessions, the intensity, duration, circumstance of the interventions, country in which the intervention was studied and reading measures. Sixty records are included, describing 70 interventions in total of which 21 are specifically reading interventions. Overall, adjusted saccadic behaviour interventions occur most in the literature. A wide range within all intervention characteristics was observed. Forty-nine records reported task-performance reading measures, and 33 records reported self-reported reading measures. The majority of task-performance measures are based on self-developed paragraph reading tasks with a time-based outcome measure (e.g. words per minute). Future research could benefit from making use of validated reading tests, approaching the measurement of reading mixed-methods and providing participants the possibility to supply outcomes relevant to them.

2.
Neuropsychol Rehabil ; 34(2): 220-243, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36871257

RESUMO

People with multiple sclerosis (pwMS) report many different visual complaints, but not all of them are well understood. Decline in visual, visuoperceptual and cognitive functions do occur in pwMS, but it is unclear to what extend those help us understand visual complaints. The purpose of this cross-sectional study was to explore the relation between visual complaints and decline in visual, visuoperceptual and cognitive functions, to optimize care for pwMS. Visual, visuoperceptual and cognitive functions of 68 pwMS with visual complaints and 37 pwMS with no or minimal visual complaints were assessed. The frequency of functional decline was compared between the two groups and correlations were calculated between visual complaints and the assessed functions. Decline in several functions occurred more frequently in pwMS with visual complaints. Visual complaints may be an indication of declined visual or cognitive functioning. However, as most correlations were not significant or weak, we cannot infer that visual complaints are directly related to functions. The relationship may be indirect and more complex. Future research could focus on the overarching cognitive capacity that may contribute to visual complaints. Further research into these and other explanations for visual complaints could help us to provide appropriate care for pwMS.


Assuntos
Esclerose Múltipla , Humanos , Esclerose Múltipla/psicologia , Estudos Transversais , Cognição
3.
Clin Rehabil ; 38(3): 393-402, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37921016

RESUMO

OBJECTIVE: The quality of life of people with multiple sclerosis (MS) is often affected by visual complaints. A previous study suggested that visual complaints are not likely to be related to specific visual functions, but by a global decline of cognitive and visual functioning. In this study, we further explore this hypothesis, by investigating the relation between visual functions and global cognitive functioning, aiming to provide recommendations for rehabilitation for visual complaints. DESIGN: Cross-sectional study. SETTING: A rehabilitation centre for partially sighted and blind people and a MS centre at a university hospital. PARTICIPANTS: 102 people with MS. MAIN MEASURE: Correlations between assessments of visual functions (acuity, contrast sensitivity, visual field, smooth pursuit and saccades) and composite scores of a neuropsychological assessment (tests with a visual component and without a visual component). RESULTS: All composite scores correlated with visual acuity, contrast sensitivity and the sensitivity of the monocular field, but not with smooth pursuit and saccades. Similar patterns were found in various subgroups. Results showed that visual functions that related to visual complaints correlated with a diffuse decline of global cognitive functioning and that visual and cognitive functioning may decline concurrently in people with MS. CONCLUSIONS: Visual complaints may occur as a result of a diffuse decline of the integrity of a cerebral network involved in vision and cognition. People with MS with visual complaints may benefit from neurovisual rehabilitation, in which low-vision rehabilitation and neuropsychological rehabilitation are closely intertwined.


Assuntos
Esclerose Múltipla , Humanos , Esclerose Múltipla/complicações , Esclerose Múltipla/psicologia , Qualidade de Vida/psicologia , Estudos Transversais , Acuidade Visual , Sensibilidades de Contraste , Testes Neuropsicológicos
4.
Mult Scler Relat Disord ; 57: 103429, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34863058

RESUMO

BACKGROUND: Visual disturbances are common in multiple sclerosis (MS), but visual complaints may be underestimated. While these complaints decrease quality of life, they may not be discussed during clinic visits. People with MS (pwMS) may not be referred to appropriate care. We therefore investigated the prevalence, nature and associations of visual complaints of pwMS. METHODS: We performed a cohort study with a comparison group. PwMS (n = 493) and healthy controls (n = 661) filled out the Screening Visual Complaints questionnaire (SVCq). Primary outcomes were the percentage of pwMS and controls that reported the 19 complaints, and total scores of the SVCq. We also compared the scores on the SVCq between different groups of pwMS. RESULTS: In general, the complaints were reported more often by pwMS than by controls. PwMS especially reported experiencing complaints 'often/always', while controls reported the complaints primarily 'sometimes'. PwMS with and without a history of optic neuritis showed similar complaints. PwMS with a longer disease duration and those with SPMS reported more complaints. EDSS score and disease duration only showed a limited association with discomfort of visual complaints. CONCLUSION: The prevalence of visual complaints among pwMS is high and any person with MS may experience a wide array of different visual complaints anywhere along the disease course, regardless of a history of optic neuritis. Using the SVCq may help detect pwMS' visual complaints and may facilitate referrals to appropriate care.


Assuntos
Esclerose Múltipla , Estudos de Coortes , Humanos , Esclerose Múltipla/complicações , Esclerose Múltipla/epidemiologia , Prevalência , Qualidade de Vida , Transtornos da Visão/diagnóstico , Transtornos da Visão/epidemiologia , Transtornos da Visão/etiologia
5.
Opt Express ; 29(20): 32051-32067, 2021 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-34615284

RESUMO

We report on the time-dependent optical diffraction from ultra-high frequency laser-induced acoustic waves in thin layers of ruthenium deposited on glass substrates. We show that the thermo-optic and strain-optic effects dominate the optical response of Ru layers to a traveling longitudinal strain wave. In addition, we show the generation and detection of acoustic waves with a central frequency ranging from 130 GHz to 750 GHz on ultra-thin layers with thicknesses in the range of 1.2 - 20 nm. For these ultra-thin layers we measure a strong dependency of the speed of sound on the layer thickness and, thus, the frequency. This frequency-dependent speed of sound results in a frequency-dependent acoustic impedance mismatch between the ruthenium and the glass substrate, leading to a faster decay of the measured signals for increasing frequency. Furthermore, for these extremely high-frequency oscillations, we find that the frequency and phase remain constant for times longer than about 2 ps after optical excitation. Back extrapolation of the acquired acoustic signals to t = 0 gives a starting phase of -π/2. As this seems unlikely, we interpret this as an indication of possible dynamic changes in the phase/frequency of the acoustic wave in the first 2 ps after excitation.

6.
Ned Tijdschr Geneeskd ; 1642020 11 05.
Artigo em Holandês | MEDLINE | ID: mdl-33331716

RESUMO

Upon ageing, hematopoietic stem or progenitor cells harboring acquired leukemia-associated mutations may expand clonally and become detectable in peripheral blood. So-called clonal hematopoiesis may be detected in 5-55% of (otherwise healthy) individuals aged ≥ 70 years. Clonal hematopoiesis is associated with a higher risk of developing hematological neoplasms, although most individuals never develop malignant disease. Surprisingly, clonal hematopoiesis is also recognized as a new cardiovascular risk factor. Specific patient categories may be at higher risk for the consequences of clonal hematopoiesis. For future risk stratification, there is a need to distinguish high-risk clonal hematopoiesis from 'physiological' ageing processes. In this article we summarize current knowledge on clonal hematopoiesis and its clinical implications. Given the widespread application of next-generation sequencing in routine diagnostics, multidisciplinary recommendations for clinical management of individuals with detected clonal hematopoiesis should be developed.


Assuntos
Envelhecimento/genética , Doenças Cardiovasculares/genética , Hematopoiese Clonal/genética , Leucemia/genética , Idoso , Feminino , Fatores de Risco de Doenças Cardíacas , Neoplasias Hematológicas/genética , Humanos , Masculino , Mutação , Medição de Risco
7.
Opt Express ; 28(8): 12093-12107, 2020 Apr 13.
Artigo em Inglês | MEDLINE | ID: mdl-32403710

RESUMO

We report on femtosecond laser ablation experiments on percolating gold layers deposited on a glass substrate. In our experiments, we measure changes in optical transmission and reflection induced by single, high-intensity infrared laser pulses as a function of the time delay between the pump and the probe. For the highest pump intensities we find that on a time scale of about 150 ps after excitation, the transmission and reflection approach values close to the substrate values. We attribute this rapid ablation to vaporization of the entire layer when the injected energy exceeds the cohesive energy of the material. This vaporization results in the rapid transformation of the gold layer into a sufficiently dilute mist of atoms and nano-particles which renders the material almost optically transparent to the probe pulse. SEM images of the surfaces show how the morphology of the films changes at relatively low excitation intensities and show the complete removal of the gold at high intensities. We find that the ablation threshold for percolating Au on glass is 2.3 × 1011 W/cm2, which is two orders of magnitude lower than the damage threshold for continuous gold layers as reported in the literature.

8.
Mult Scler Relat Disord ; 37: 101463, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31678858

RESUMO

BACKGROUND: Multiple sclerosis (MS) can manifest itself in many ways, all of which can affect the independent outdoor mobility of persons with MS (pwMS). In most studies, mobility of pwMS is defined by the ability to walk. However, mobility comprises more than walking alone. This systematic review provides an overview of the literature on several types of independent outdoor mobility of pwMS. We aimed to identify which specific factors may influence outdoor mobility and how the lives of pwMS may be affected by a reduced mobility. METHODS: A systematic literature search was performed, using three databases (PubMed, PsychInfo and Web of Science). Studies had to describe a group of pwMS sclerosis and had to concern some type of mobility other than walking. RESULTS: The 57 studies that fulfilled the criteria included in total 10,394 pwMS and in addition, 95,300 pwMS in separate prevalence study. These studies showed that pwMS as a group have a decreased fitness to drive, make use of a wheelchair or mobility scooter more often and have difficulties making use of public transport. Mobility problems especially occur in patients with cognitive problems, secondary progressive MS or high disability scores. CONCLUSIONS: The reduced mobility may prevent pwMS participating in society. However, few studies investigating interventions or rehabilitation options to improve mobility were found in the existing literature, highlighting an until now under recognised unmet need.


Assuntos
Condução de Veículo , Esclerose Múltipla/reabilitação , Cadeiras de Rodas , Humanos
9.
Physiol Meas ; 40(3): 035005, 2019 04 03.
Artigo em Inglês | MEDLINE | ID: mdl-30731445

RESUMO

OBJECTIVE: Remote pulse oximetry in visible light (VIS) is a relevant application of photoplethysmography (PPG). However, wavelengths penetrate at different depths and VIS-based pulse oximetry may not guarantee robustness to physiological variations of the skin properties. This paper shows how a simple manoeuver like a posture change can hamper the accuracy of a method relying on red and the less penetrating green wavelengths. APPROACH: Stationary subjects were measured under normoxic conditions while sitting and in the supine position. For each recording, we extracted remote PPG signals from forehead video recordings of 31 healthy adults at the red and green camera channels. The resulting normalized PPG-amplitudes, and its ratio, red-over-green (RoG), were compared between postures. The observed RoG changes were translated into estimates for arterial blood oxygen saturation (SpO2, %) errors by means of Monte Carlo simulations of the skin tissue. Simulations were also used to compare the calibratability errors of SpO2 in VIS against the conventional red-IR wavelengths. MAIN RESULTS: RoG differs significantly between postures (RoG: sitting, 0.100 [Formula: see text] 0.025; supine, 0.123 [Formula: see text] 0.033), mediated by PPG-amplitude changes in green. The posture interference in RoG may be mitigated by an offset correction. Without this correction, we estimated that the observed change in RoG causes SpO2 errors >[Formula: see text]. Analogous simulations involving red-IR wavelengths indicate SpO2 errors <[Formula: see text]. SIGNIFICANCE: Our results show that the calibrations for remote pulse oximetry in VIS require the specification of a fixed measurement position. Future work could be aimed at controlling for posture in measurements.


Assuntos
Luz , Oximetria/métodos , Postura , Adulto , Calibragem , Feminino , Voluntários Saudáveis , Humanos , Masculino , Método de Monte Carlo , Fotopletismografia , Processamento de Sinais Assistido por Computador
10.
Acta Neurol Scand ; 138(3): 186-194, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29542107

RESUMO

OBJECTIVE: To assess effectiveness and tolerability of first-line and conversion to lacosamide monotherapy for focal seizures. MATERIALS AND METHODS: Retrospective, non-interventional chart review of lacosamide monotherapy patients aged ≥16 years in Europe. Outcomes included retention rate at observational point (OP) 3 (12 ± 3 months), seizure freedom rates at OP2 (6 ± 3 months) and OP3 and adverse drug reactions (ADRs). RESULTS: A total of 439 patients were included (98 first-line and 341 conversion to monotherapy; 128 aged ≥65 years [25 first-line and 103 conversion to monotherapy]). First-line and conversion to monotherapy retention rates were 60.2% (59/98; 95% confidence interval [CI] 49.8%-70.0%) and 62.5% (213/341; 57.1%-67.6%), respectively. Kaplan-Meier estimates of 12-month retention rates were 81.2% and 91.4% for first-line and conversion to monotherapy, respectively. First-line and conversion to monotherapy retention rates in patients aged ≥65 years were 60.0% (38.7%-78.9%) and 68.9% (59.1%-77.7%), respectively. At OP2, 66.3% of first-line and 63.0% of conversion to monotherapy patients were seizure free. At OP3, 60.2% of first-line and 52.5% of conversion to monotherapy patients were seizure free. In the ≥65 years subgroup, seizure freedom rates at OP2 were 72.0% and 68.0% for first-line and converted to monotherapy, respectively, and at OP3, 68.0% and 56.3%, respectively. Overall, 52 of 439 (11.8%) patients reported ADRs (16.4% in ≥65 years subgroup), most commonly dizziness (5.0%), headache (2.1%) and somnolence (1.6%). CONCLUSIONS: Lacosamide was effective and well tolerated as first-line or conversion to monotherapy in a clinical setting in adult and elderly patients with focal seizures.


Assuntos
Acetamidas/uso terapêutico , Anticonvulsivantes/uso terapêutico , Convulsões/tratamento farmacológico , Adolescente , Adulto , Idoso , Europa (Continente) , Feminino , Humanos , Lacosamida , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
11.
Physiol Meas ; 38(8): 1576-1598, 2017 Jul 28.
Artigo em Inglês | MEDLINE | ID: mdl-28671872

RESUMO

The feasibility of a camera-based extraction of carotid distension waveforms offers the prospect of a user-friendly alternative to laser Doppler velocimetry (LDV) or accelerometry-based systems. Upon supplementary calibration of vessel wall displacement to arterial pressure, our system may also be an appealing alternative to applanation tonometry for extracting cardiac-related features from the central pulse pressure waveform. OBJECTIVE: This paper describes the application of camera-based micro-motion imaging to extract health-related features from the contour of the carotid displacement waveform. APPROACH: We build on the assumption that the cardiac-related frequency components of the skin motion (sMOT) waveform, as acquired at the vicinity of the carotid artery under uneven illumination, receive a dominant contribution from the carotid wall displacement. We propose a two-step approach at which sMOT signals are queried based on the local amplitude of remote-photoplethysmography sensors spanning the neck's skin and then ensemble-averaged for cardiovascular health assessment. MAIN RESULTS: The feasibility of the system is demonstrated for assessing stiffness index, augmentation pressure, augmentation index and reflection magnitude on a dataset comprising 28 participants (ages 23 to 62 yrs; 22 males). SIGNIFICANCE: Although presented here as a standalone system, micro-motion imaging can be an auxiliary technique for improving sensor placement and signal quality of tonometric or LDV technologies.


Assuntos
Processamento de Imagem Assistida por Computador , Movimento , Pescoço/irrigação sanguínea , Pescoço/fisiologia , Análise de Onda de Pulso , Rigidez Vascular , Adulto , Artérias Carótidas/fisiologia , Estudos de Viabilidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
12.
Acta Neurol Scand ; 136(6): 708-714, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28626979

RESUMO

OBJECTIVES: Mesial temporal lobe epilepsy syndrome (MTLE) with specific electrophysiological and clinical characteristics and hippocampal sclerosis (HS) on MRI is considered the prototype of a syndrome with good surgical prognosis. Ictal onset zones in MTLE have been found to extend outside the hippocampus and neocortical seizures often involve mesial structures. It can, thus, be questioned whether MTLE with HS is different from lesional temporal epilepsies with respect to electro-clinical characteristics and surgical prognosis. We assessed whether MTLE with HS is distinguishable from lesional TLE and which criteria determine surgical outcome. METHODS: People in a retrospective cohort of 389 individuals with MRI abnormalities who underwent temporal lobectomy, were divided into "HS only" or "lesional" TLEs. Twenty-six presented with dual pathology and were excluded from further analysis. We compared surgical outcome and electro-clinical characteristics. RESULTS: Over half (61%) had "HS only." Four electro-clinical characteristics (age at epilepsy onset, febrile seizures, memory dysfunction and contralateral dystonic posturing) distinguished "HS only" from "lesional" TLE, but there was considerable overlap. Seizure freedom 2 years after surgery (Engel class 1) was similar: 67% ("HS only") vs 69% ("lesional" TLE). Neither presence of HS nor electro-clinical criteria was associated with surgical outcome. CONCLUSIONS: Despite small differences in electrophysiological and clinical characteristics between MTLE with HS and lesional TLE, surgical outcomes are similar, indicating that aetiology seems irrelevant in the referral for temporal surgery.


Assuntos
Lobectomia Temporal Anterior/efeitos adversos , Epilepsia do Lobo Temporal/cirurgia , Complicações Pós-Operatórias/epidemiologia , Adulto , Epilepsia do Lobo Temporal/diagnóstico , Epilepsia do Lobo Temporal/diagnóstico por imagem , Feminino , Hipocampo/diagnóstico por imagem , Hipocampo/cirurgia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia
14.
Eur J Neurol ; 23(9): 1393-9, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27333872

RESUMO

The use of carbamazepine (CBZ) and oxcarbazepine (OXC) as first-line antiepileptic drugs in the treatment of focal epilepsy is limited by hyponatremia, a known adverse effect. Hyponatremia occurs in up to half of people taking CBZ or OXC and, although often assumed to be asymptomatic, it can lead to symptoms ranging from unsteadiness and mild confusion to seizures and coma. Hyponatremia is probably due to the antidiuretic properties of CBZ and OXC that are, at least partly, explained by stimulation of the vasopressin 2 receptor/aquaporin 2 pathway. No known genetic risk variants for CBZ- and OXC-induced hyponatremia exist, but likely candidate genes are part of the vasopressin water reabsorption pathway.


Assuntos
Anticonvulsivantes/efeitos adversos , Carbamazepina/análogos & derivados , Carbamazepina/efeitos adversos , Hiponatremia/induzido quimicamente , Animais , Humanos , Hiponatremia/epidemiologia , Hiponatremia/genética , Hiponatremia/fisiopatologia , Oxcarbazepina , Farmacogenética
15.
Leukemia ; 29(3): 625-35, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25184385

RESUMO

As the transcriptional coactivator CITED2 (CBP/p300-interacting-transactivator-with-an ED-rich-tail 2) can be overexpressed in acute myeloid leukemia (AML) cells, we analyzed the consequences of high CITED2 expression in normal and AML cells. CITED2 overexpression in normal CD34(+) cells resulted in enhanced hematopoietic stem and progenitor cell (HSPC) output in vitro, as well as in better hematopoietic stem cell (HSC) engraftability in NSG (NOD.Cg-Prkdcscid Il2rgtm1Wjl/SzJ) mice. This was because of an enhanced quiescence and maintenance of CD34(+)CD38(-) HSCs, due in part to an increased expression of the cyclin-dependent kinase inhibitor CDKN1A. We demonstrated that PU.1 is a critical regulator of CITED2, as PU.1 repressed CITED2 expression in a DNA methyltransferase 3A/B (DNMT3A/B)-dependent manner in normal CD34(+) cells. CD34(+) cells from a subset of AML patients displayed higher expression levels of CITED2 as compared with normal CD34(+) HSPCs, and knockdown of CITED2 in AML CD34(+) cells led to a loss of long-term expansion, both in vitro and in vivo. The higher CITED2 expression resulted from reduced PU.1 activity and/or dysfunction of mutated DNMT3A/B. Collectively, our data demonstrate that increased CITED2 expression results in better HSC maintenance. In concert with low PU.1 levels, this could result in a perturbed myeloid differentiation program that contributes to leukemia maintenance.


Assuntos
Regulação Leucêmica da Expressão Gênica , Células-Tronco Hematopoéticas/metabolismo , Leucemia Mieloide Aguda/genética , Proteínas Proto-Oncogênicas/genética , Proteínas Repressoras/genética , Transativadores/genética , Animais , Antígenos CD34/genética , Antígenos CD34/metabolismo , Proliferação de Células , Inibidor de Quinase Dependente de Ciclina p21/genética , Inibidor de Quinase Dependente de Ciclina p21/metabolismo , DNA (Citosina-5-)-Metiltransferases/genética , DNA (Citosina-5-)-Metiltransferases/metabolismo , DNA Metiltransferase 3A , Feminino , Sobrevivência de Enxerto , Transplante de Células-Tronco Hematopoéticas , Células-Tronco Hematopoéticas/patologia , Humanos , Leucemia Mieloide Aguda/metabolismo , Leucemia Mieloide Aguda/patologia , Camundongos , Camundongos Endogâmicos NOD , Mutação , Proteínas Proto-Oncogênicas/metabolismo , Proteínas Repressoras/metabolismo , Transdução de Sinais , Transativadores/metabolismo , Transplante Heterólogo , DNA Metiltransferase 3B
16.
Physiol Meas ; 35(9): 1913-1926, 2014 08 27.
Artigo em Inglês | MEDLINE | ID: mdl-25159049

RESUMO

Remote photoplethysmography (rPPG) enables contact-free monitoring of the blood volume pulse using a color camera. Essentially, it detects the minute optical absorption changes caused by blood volume variations in the skin. In this paper, we show that the different absorption spectra of arterial blood and bloodless skin cause the variations to occur along a very specific vector in a normalized RGB-space. The exact vector can be determined for a given light spectrum and for given transfer characteristics of the optical filters in the camera. We show that this 'signature' can be used to design an rPPG algorithm with a much better motion robustness than the recent methods based on blind source separation, and even better than the chrominance-based methods we published earlier. Using six videos recorded in a gym, with four subjects exercising on a range of fitness devices, we confirm the superior motion robustness of our newly proposed rPPG methods. A simple peak detector in the frequency domain returns the correct pulse-rate for 68% of total measurements compared to 60% for the best previous method, while the SNR of the pulse-signal improves from - 5 dB to - 4 dB. For a large population of 117 stationary subjects we prove that the accuracy is comparable to the best previous method, although the SNR of the pulse-signal drops from + 8.4 dB to + 7.6 dB. We expect the improved motion robustness to significantly widen the application scope of the rPPG-technique.

17.
Epilepsy Behav ; 28(1): 41-6, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23651915

RESUMO

Autosomal dominant lateral temporal lobe epilepsy (ADLTE) is characterized by focal seizures with auditory features or aphasia. Mutations in the leucine-rich glioma-inactivated 1 (LGI1) gene have been reported in up to 50% of families with ADLTE. Attention-deficit/hyperactivity disorder (ADHD) symptoms have not yet been reported in these families. Clinical data were collected from a family with five affected members. Leucine-rich glioma-inactivated 1 exons and boundaries were sequenced by standard methods. Attention-deficit/hyperactivity disorder symptoms were scored based on the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria. Affected members had seizures with auditory features and psychic auras, and some experienced nightmares. A heterozygous c.431+1G>A substitution in LGI1 was detected in all members. Significantly more hyperactivity symptoms were found in family members carrying the LGI1 mutation. This study expands the phenotypic spectrum associated with ADLTE due to LGI1 mutation and underlines the need for more systematic evaluation of ADHD and related symptoms.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/etiologia , Epilepsia do Lobo Temporal/complicações , Epilepsia do Lobo Temporal/genética , Saúde da Família , Mutação/genética , Proteínas/genética , Transtorno do Deficit de Atenção com Hiperatividade/genética , Criança , Análise Mutacional de DNA , Feminino , Genes Dominantes , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Masculino , Fenótipo , Índice de Gravidade de Doença , Adulto Jovem
18.
J Microsc ; 250(3): 166-78, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23550616

RESUMO

Malaria is a worldwide health problem with 225 million infections each year. A fast and easy-to-use method, with high performance is required to differentiate malaria from non-malarial fevers. Manual examination of blood smears is currently the gold standard, but it is time-consuming, labour-intensive, requires skilled microscopists and the sensitivity of the method depends heavily on the skills of the microscopist. We propose an easy-to-use, quantitative cartridge-scanner system for vision-based malaria diagnosis, focusing on low malaria parasite densities. We have used special finger-prick cartridges filled with acridine orange to obtain a thin blood film and a dedicated scanner to image the cartridge. Using supervised learning, we have built a Plasmodium falciparum detector. A two-step approach was used to first segment potentially interesting areas, which are then analysed in more detail. The performance of the detector was validated using 5,420 manually annotated parasite images from malaria parasite culture in medium, as well as using 40 cartridges of 11,780 images containing healthy blood. From finger prick to result, the prototype cartridge-scanner system gave a quantitative diagnosis in 16 min, of which only 1 min required manual interaction of basic operations. It does not require a wet lab or a skilled operator and provides parasite images for manual review and quality control. In healthy samples, the image analysis part of the system achieved an overall specificity of 99.999978% at the level of (infected) red blood cells, resulting in at most seven false positives per microlitre. Furthermore, the system showed a sensitivity of 75% at the cell level, enabling the detection of low parasite densities in a fast and easy-to-use manner. A field trial in Chittagong (Bangladesh) indicated that future work should primarily focus on improving the filling process of the cartridge and the focus control part of the scanner.


Assuntos
Automação Laboratorial/métodos , Processamento de Imagem Assistida por Computador/métodos , Malária Falciparum/diagnóstico , Microscopia/métodos , Parasitemia/diagnóstico , Parasitologia/métodos , Plasmodium falciparum/citologia , Bangladesh , Plasmodium falciparum/isolamento & purificação , Sensibilidade e Especificidade
20.
J Microsc ; 249(2): 124-35, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23252774

RESUMO

In traditional cancer diagnosis, (histo)pathological images of biopsy samples are visually analysed by pathologists. However, this judgment is subjective and leads to variability among pathologists. Digital scanners may enable automated objective assessment, improved quality and reduced throughput time. Nucleus detection is seen as the corner stone for a range of applications in automated assessment of (histo)pathological images. In this paper, we propose an efficient nucleus detector designed with machine learning. We applied colour deconvolution to reconstruct each applied stain. Next, we constructed a large feature set and modified AdaBoost to create two detectors, focused on different characteristics in appearance of nuclei. The proposed modification of AdaBoost enables inclusion of the computational cost of each feature during selection, thus improving the computational efficiency of the resulting detectors. The outputs of the two detectors are merged by a globally optimal active contour algorithm to refine the border of the detected nuclei. With a detection rate of 95% (on average 58 incorrectly found objects per field-of-view) based on 51 field-of-view images of Her2 immunohistochemistry stained breast tissue and a complete analysis in 1 s per field-of-view, our nucleus detector shows good performance and could enable a range of applications in automated assessment of (histo)pathological images.


Assuntos
Núcleo Celular/ultraestrutura , Histocitoquímica/métodos , Processamento de Imagem Assistida por Computador/métodos , Microscopia/métodos , Inteligência Artificial , Automação/métodos , Humanos , Imuno-Histoquímica/métodos , Neoplasias/diagnóstico
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