33 research outputs found
Using Kinect to classify Parkinson's disease stages related to severity of gait impairment
Background: Parkinson’s Disease (PD) is a chronic neurodegenerative disease associated with motor problems such
as gait impairment. Different systems based on 3D cameras, accelerometers or gyroscopes have been used in related
works in order to study gait disturbances in PD. Kinect has also been used to build these kinds of systems, but
contradictory results have been reported: some works conclude that Kinect does not provide an accurate method of
measuring gait kinematics variables, but others, on the contrary, report good accuracy results.
Methods: In this work, we have built a Kinect-based system that can distinguish between different PD stages, and
have performed a clinical study with 30 patients suffering from PD belonging to three groups: early PD patients
without axial impairment, more evolved PD patients with higher gait impairment but without Freezing of Gait (FoG),
and patients with advanced PD and FoG. Those patients were recorded by two Kinect devices when they were
walking in a hospital corridor. The datasets obtained from the Kinect were preprocessed, 115 features identified, some
methods were applied to select the relevant features (correlation based feature selection, information gain, and
consistency subset evaluation), and different classification methods (decision trees, Bayesian networks, neural
networks and K-nearest neighbours classifiers) were evaluated with the goal of finding the most accurate method for
PD stage classification.
Results: The classifier that provided the best results is a particular case of a Bayesian Network classifier (similar to a
Naïve Bayesian classifier) built from a set of 7 relevant features selected by the correlation-based on feature selection
method. The accuracy obtained for that classifier using 10-fold cross validation is 93.40%. The relevant features are
related to left shin angles, left humerus angles, frontal and lateral bents, left forearm angles and the number of steps
during spin.
Conclusions: In this paper, it is shown that using Kinect is adequate to build a inexpensive and comfortable system
that classifies PD into three different stages related to FoG. Compared to the results of previous works, the obtained
accuracy (93.40%) can be considered high. The relevant features for the classifier are: a) movement and position of the
left arm, b) trunk position for slightly displaced walking sequences, and c) left shin angle, for straight walking
sequences. However, we have obtained a better accuracy (96.23%) for a classifier that only uses features extracted
from slightly displaced walking steps and spin walking steps. Finally, the obtained set of relevant features may lead to
new rehabilitation therapies for PD patients with gait problems
Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder
Pathogenic hemizygous or heterozygous mutations in the IQSEC2 gene cause X-linked intellectual developmental disorder-1 (XLID1), characterized by a variable phenotype including developmental delay, intellectual disability, epilepsy, hypotonia, autism, microcephaly and stereotypies. It affects both males and females typically through loss of function in males and haploinsufficiency in heterozygous females. Females are generally less affected than males. Two novel unrelated cases, one male and one female, with de novo IQSEC2 variants were detected by trio-based whole exome sequencing. The female case had a previously undescribed frameshift mutation (NM_001111125:c.3300dup; p.Met1101Tyrfs*5), and the male showed an intronic variant in intron 6, with a previously unknown effect (NM_001111125:c.2459+21C>T). IQSEC2 gene expression study revealed that this intronic variant created an alternative donor splicing site and an aberrant product, with the inclusion of 19bp, confirming the pathogenic effect of the intron variant. Moreover, a strong reduction in the expression of the long, but also the short IQSEC2 isoforms, was detected in the male correlating with a more severe phenotype, while the female case showed no decreased expression of the short isoform, and milder effects of the disease. This suggests that the abnormal expression levels of the different IQSEC2 transcripts could be implicated in the severity of disease manifestations.This research was funded by INSTITUTO DE SALUD CARLOS III, institutional project Spain UDP and grant PT20CIII/00009.S
Anti-tumour necrosis factor discontinuation in inflammatory bowel disease patients in remission: study protocol of a prospective, multicentre, randomized clinical trial
Background:
Patients with inflammatory bowel disease who achieve remission with anti-tumour necrosis factor (anti-TNF) drugs may have treatment withdrawn due to safety concerns and cost considerations, but there is a lack of prospective, controlled data investigating this strategy. The primary study aim is to compare the rates of clinical remission at 1?year in patients who discontinue anti-TNF treatment versus those who continue treatment.
Methods:
This is an ongoing, prospective, double-blind, multicentre, randomized, placebo-controlled study in patients with Crohn?s disease or ulcerative colitis who have achieved clinical remission for ?6?months with an anti-TNF treatment and an immunosuppressant. Patients are being randomized 1:1 to discontinue anti-TNF therapy or continue therapy. Randomization stratifies patients by the type of inflammatory bowel disease and drug (infliximab versus adalimumab) at study inclusion. The primary endpoint of the study is sustained clinical remission at 1?year. Other endpoints include endoscopic and radiological activity, patient-reported outcomes (quality of life, work productivity), safety and predictive factors for relapse. The required sample size is 194 patients. In addition to the main analysis (discontinuation versus continuation), subanalyses will include stratification by type of inflammatory bowel disease, phenotype and previous treatment. Biological samples will be obtained to identify factors predictive of relapse after treatment withdrawal.
Results:
Enrolment began in 2016, and the study is expected to end in 2020.
Conclusions:
This study will contribute prospective, controlled data on outcomes and predictors of relapse in patients with inflammatory bowel disease after withdrawal of anti-TNF agents following achievement of clinical remission.
Clinical trial reference number:
EudraCT 2015-001410-1
Molecular evolution and expression profile of the chemerine encoding gene RARRES2 in baboon and chimpanzee
Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study
Summary
Background Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally.
Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies
have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of
the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income
countries globally, and identified factors associated with mortality.
Methods We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to
hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis,
exomphalos, anorectal malformation, and Hirschsprung’s disease. Recruitment was of consecutive patients for a
minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical
status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary
intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause,
in-hospital mortality for all conditions combined and each condition individually, stratified by country income status.
We did a complete case analysis.
Findings We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital
diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal
malformation, and 517 with Hirschsprung’s disease) from 264 hospitals (89 in high-income countries, 166 in middleincome
countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male.
Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3).
Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income
countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups).
Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in lowincome
countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries;
p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients
combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11],
p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20
[1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention
(ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety
checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed
(ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of
parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65
[0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality.
Interpretation Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between lowincome,
middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will
be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger
than 5 years by 2030
Disrupted salience network dynamics in Parkinson's disease patients with impulse control disorders
Available online 16 December2019Background: Dynamic functional network analysis may add relevant information about the temporal nature of
the neurocognitive alterations in PD patients with impulse control disorders (PD-ICD). Our aim was to investigate
changes in dynamic functional network connectivity (dFNC) in PD-ICD patients, and topological
properties of such networks.
Methods: Resting state fMRI was performed on 16 PD PD-ICD patients, 20 PD patients without ICD and 17
healthy controls, whose demographic, clinical and behavioral scores were assessed. We conducted a group
spatial independent component analysis, sliding window and graph-theory analyses.
Results: PD-ICD patients, in contrast to PD-noICD and HC subjects, were engaged across time in a brain configuration
pattern characterized by a lack of between-network connections at the expense of strong withinnetwork
connections (State III) in temporal, frontoinsular and cingulate cortices, all key nodes of the salience
network. Moreover, this increased maintenance of State III in PD-ICD patients was positively correlated with the
severity of impulsivity and novelty seeking as measured by specific scales. While in State III, these patients also
exhibited increased local efficiency in all the aforementioned areas.
Conclusions: Our findings show for the first time that PD-ICD patients have a dynamic functional engagement of
local connectivity involving the limbic circuit, leading to the inefficient modulation in emotional processing and
reward-related decision-making. These results provide new insights into the pathophysiology of ICD in PD patients
and indicate that the dFC study of fMRI could be a useful biomarker to identify patients at risk to develop
ICD.This work was supported by the Carlos III Institute of Health [PI11/
02109] and by the ERA-NET Neuron program [PIM2010ERN-00733].
I.N-G. held a Mobility of Research Staff 2017 grant [MV17/00015]
from the Carlos III Institute of Health under the framework of a Rio
Hortega 2016 grant [CM16/00033]. J.K. has no disclosures to declare.
P.M.P-A was supported by grants from the Spanish Ministry of Economy
and Competitiveness [MINECO, RYC-2014-15440 and PGC2018-
093408-B-I00], and Neuroscience Research Projects programme from
the Fundación Tatiana Pérez de Guzmán el Bueno. BCBL acknowledges
funding from the Basque Government through the BERC 2018–2021
program and by the Spanish State Research Agency through BCBL
Severo Ochoa excellence accreditation [SEV-2015-0490]. A.P.S. is
supported by the Canadian Institute of Health Research and Canada
Research Chair program. M.C.R–O. received financial support for her
research from national and local government institutions in Spain
(Carlos III Institute of Health, Basque Country Government, Diputacion
Foral Guipuzcoa and the Network Center for Biomedical Research in
Neurodegenerative Diseases (CIBERNED))
Using Kinect to classify Parkinson's disease stages related to severity of gait impairment
Background: Parkinson’s Disease (PD) is a chronic neurodegenerative disease associated with motor problems such
as gait impairment. Different systems based on 3D cameras, accelerometers or gyroscopes have been used in related
works in order to study gait disturbances in PD. Kinect has also been used to build these kinds of systems, but
contradictory results have been reported: some works conclude that Kinect does not provide an accurate method of
measuring gait kinematics variables, but others, on the contrary, report good accuracy results.
Methods: In this work, we have built a Kinect-based system that can distinguish between different PD stages, and
have performed a clinical study with 30 patients suffering from PD belonging to three groups: early PD patients
without axial impairment, more evolved PD patients with higher gait impairment but without Freezing of Gait (FoG),
and patients with advanced PD and FoG. Those patients were recorded by two Kinect devices when they were
walking in a hospital corridor. The datasets obtained from the Kinect were preprocessed, 115 features identified, some
methods were applied to select the relevant features (correlation based feature selection, information gain, and
consistency subset evaluation), and different classification methods (decision trees, Bayesian networks, neural
networks and K-nearest neighbours classifiers) were evaluated with the goal of finding the most accurate method for
PD stage classification.
Results: The classifier that provided the best results is a particular case of a Bayesian Network classifier (similar to a
Naïve Bayesian classifier) built from a set of 7 relevant features selected by the correlation-based on feature selection
method. The accuracy obtained for that classifier using 10-fold cross validation is 93.40%. The relevant features are
related to left shin angles, left humerus angles, frontal and lateral bents, left forearm angles and the number of steps
during spin.
Conclusions: In this paper, it is shown that using Kinect is adequate to build a inexpensive and comfortable system
that classifies PD into three different stages related to FoG. Compared to the results of previous works, the obtained
accuracy (93.40%) can be considered high. The relevant features for the classifier are: a) movement and position of the
left arm, b) trunk position for slightly displaced walking sequences, and c) left shin angle, for straight walking
sequences. However, we have obtained a better accuracy (96.23%) for a classifier that only uses features extracted
from slightly displaced walking steps and spin walking steps. Finally, the obtained set of relevant features may lead to
new rehabilitation therapies for PD patients with gait problems
The right occipital lobe and poor insight in first-episode psychosis
Lack of insight is a core feature of non-affective psychosis and has been associated with poorer outcomes. Brain abnormalities underlying lack of insight have been suggested, mostly in the frontal lobe, although previous research showed mixed results. We used a voxel-based morphometry (VBM) analysis in 108 first-episode non-affective psychosis patients to investigate the pattern of brain structural abnormalities related to lack of insight. In addition, 77 healthy volunteers were compared with the patients classified as having poor and good insight. The shortened version of the Scale to Assess Unawareness of Mental Disorder was used to evaluate insight. Patients with poor insight (n = 68) compared with patients with good insight (n = 40) showed a single significant cluster (kc = 5834; PcFWE = 0.001) of reduced grey matter volume (GMV) in the right occipital lobe extending to its lateral and medial surfaces, the cuneus, and the middle temporal gyrus. In addition, GMV at this cluster showed a negative correlation with the score of the SUMD (r = -0.305; p = 0.001). When comparing patients with poor insight with healthy subjects overall reductions of GMV were found, mainly in frontal and occipital lobes. Hence, poor insight in non-affective psychosis seems to be associated with specific brain abnormalities in the right occipital and temporal cortical regions. Dysfunction in any combination of these areas may contribute to lack of insight in non-affective psychosis. Specifically, the 'right' hemisphere dysfunction underlying impaired insight in our sample is consistent with previously reported similarities between lack of insight in psychosis and anosognosia in neurological disorders
Lack of association between Toxoplasma gondii exposure and depression in pregnant women: a case-control study
Socio-demographic and clinical characteristics of the study groups.
<p>Socio-demographic and clinical characteristics of the study groups.</p