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1.
J Psychiatr Res ; 167: 33-36, 2023 Oct 05.
Article de Anglais | MEDLINE | ID: mdl-37826875

RÉSUMÉ

Bipolar disorder has been associated with a decrease in hippocampal size, and lithium appears to reverse this neuroanatomical abnormality. The objective of this work was to evaluate, at a cellular level, the size of both cell body and nucleus of pyramidal neurons located throughout the Cornu Ammonis (CA1 to CA4 regions). To perform this duty, we used 16 rats that were randomized into two groups: control and dietary lithium-treated. After one month, they were sacrificed and their brains removed for histopathological analysis. Serial photos of the entire Cornu Ammonis were taken and, after dividing them into 4 regions of interest, we measured the cell body and nucleus on each pyramidal neuron belonging to the first 5 photos of each region of interest. As a result of this histological analysis, cell body area and nuclear area were significantly larger in the experimental group in a specific area of the Cornu Ammonis that could correspond to CA2 or the transition between CA1 and CA2. These results suggest that the effect of lithium is not homogeneous throughout the hippocampus and allows directing future studies to a specific area of this structure.

2.
Nature ; 619(7970): 487-490, 2023 Jul.
Article de Anglais | MEDLINE | ID: mdl-37468588

RÉSUMÉ

Several long-period radio transients have recently been discovered, with strongly polarized coherent radio pulses appearing on timescales between tens to thousands of seconds1,2. In some cases, the radio pulses have been interpreted as coming from rotating neutron stars with extremely strong magnetic fields, known as magnetars; the origin of other, occasionally periodic and less-well-sampled radio transients is still debated3. Coherent periodic radio emission is usually explained by rotating dipolar magnetic fields and pair-production mechanisms, but such models do not easily predict radio emission from such slowly rotating neutron stars and maintain it for extended times. On the other hand, highly magnetic isolated white dwarfs would be expected to have long spin periodicities, but periodic coherent radio emission has not yet been directly detected from these sources. Here we report observations of a long-period (21 min) radio transient, which we have labelled GPM J1839-10. The pulses vary in brightness by two orders of magnitude, last between 30 and 300 s and have quasiperiodic substructure. The observations prompted a search of radio archives and we found that the source has been repeating since at least 1988. The archival data enabled constraint of the period derivative to <3.6 × 10-13 s s-1, which is at the very limit of any classical theoretical model that predicts dipolar radio emission from an isolated neutron star.

3.
Nature ; 604(7906): 447-450, 2022 04.
Article de Anglais | MEDLINE | ID: mdl-35444319

RÉSUMÉ

Nova explosions are caused by global thermonuclear runaways triggered in the surface layers of accreting white dwarfs1-3. It has been predicted4-6 that localized thermonuclear bursts on white dwarfs can also take place, similar to type-I X-ray bursts observed in accreting neutron stars. Unexplained rapid bursts from the binary system TV Columbae, in which mass is accreted onto a moderately strong magnetized white dwarf from a low-mass companion, have been observed on several occasions in the past 40 years7-11. During these bursts, the optical/ultraviolet luminosity increases by a factor of more than three in less than an hour and fades in around ten hours. Fast outflows have been observed in ultraviolet spectral lines7, with velocities of more than 3,500 kilometres per second, comparable to the escape velocity from the white dwarf surface. Here we report on optical bursts observed in TV Columbae and in two additional accreting systems, EI Ursae Majoris and ASASSN-19bh. The bursts have a total energy of approximately 10-6  times than those of classical nova explosions (micronovae) and bear a strong resemblance to type-I X-ray bursts12-14. We exclude accretion or stellar magnetic reconnection events as their origin and suggest thermonuclear runaway events in magnetically confined accretion columns as a viable explanation.

4.
Eur J Neurol ; 28(1): 98-107, 2021 01.
Article de Anglais | MEDLINE | ID: mdl-32896024

RÉSUMÉ

BACKGROUND AND PURPOSE: Anxiety and depression are common disabling comorbidities in cervical dystonia (CD) and may predispose to social withdrawal and social cognitive impairments. The relationship between social cognition and depressive/anxiety symptoms in CD is under-investigated. METHODS: Forty-six CD patients (40 women; mean age ± SD, 55.57 ± 10.84 years) were administered the following social cognition battery: Affect Naming, Prosody Face and Pair Matching subtests from the Wechsler Adult Intelligence Scale IV and Wechsler Memory Scale IV (social perception), reality-known and reality-unknown false belief reasoning tasks (theory of mind), Empathy Quotient and Social Norms Questionnaire 22 (social behaviour), alongside the Benton Facial Recognition Task (non-emotional facial discrimination). Alongside CD severity, the Hospital Anxiety and Depression Scale measured depressive/anxiety comorbid diagnostic status and severity, and the Liebowitz Social Anxiety Scale assessed social phobia. Social cognition tasks were standardized using published normative data and a cut-off of z < -1.5 for impairment. RESULTS: More than 90% of our CD patients performed normally on social perception and social behaviour tests. Performance on impaired belief reasoning (theory of mind) was impaired in 10 of 46 (21.74%); five of 46 (10.87%) were impaired on the Empathy Quotient. Better performance on the Affect Naming task was associated with comorbid anxiety (η2  = 0.09, medium-to-large effect size) and greater anxiety, depression and social phobia severity. Worse performance on the Empathy Quotient was associated with comorbid depression (η2  = 0.11, medium-to-large effect size) and greater depression severity. CD patients had significantly more difficulties with fearful face identification (P < 0.001). CONCLUSIONS: Greater social perception abilities in CD patients with more severe anxiety and depression suggest efficient modulation and self-adaptation of social cognitive skills.


Sujet(s)
Dépression , Torticolis , Adulte , Anxiété/épidémiologie , Cognition , Dépression/épidémiologie , Femelle , Humains , Tests neuropsychologiques , Phénotype , Cognition sociale
5.
BJOG ; 127(10): 1210-1215, 2020 09.
Article de Anglais | MEDLINE | ID: mdl-32275798

RÉSUMÉ

OBJECTIVE: To validate the performance of a first-trimester simple risk score based on the ASPRE trial algorithm for pre-eclampsia. DESIGN: Multicentre retrospective cohort analysis. SETTING: Four Italian hospitals. POPULATION: Unselected nulliparous women at 11-13 weeks of gestation from January 2014 through to January 2018. METHODS: Model performance was evaluated based on discrimination and calibration. MAIN OUTCOME MEASURES: Delivery before 37 weeks of gestation with a diagnosis of pre-eclampsia. RESULTS: Based on 73 preterm pre-eclampsia cases and 7546 controls (including 101 cases of late pre-eclampsia), the area under the receiver operating characteristics curve was 0.659 (95% CI 0.579-0.726). The sensitivity was 32.9% (95% CI 22.1-43.7) at a false-positive rate of 8.8%. The positive likelihood ratio was 3.74 (95% CI 2.67-5.23), the positive predictive value was 3.49% (95% CI 2.12-4.86%) and the negative predictive value was 99.3% (95% CI 99.1-99.5%). The sensitivity and positive likelihood ratio were approximately 40% lower than in the original study. The calibration analysis showed a good agreement between observed and expected risks (P = 0.037). Comparison with the Fetal Medicine Foundation (FMF) algorithm yielded a difference in the area under the curve of 0.084 (P = 0.007). CONCLUSIONS: In our Italian population, the simple risk score had a lower performance than expected for the prediction of preterm pre-eclampsia in nulliparous women. The FMF algorithm applied to the same data set resulted in a better prediction. TWEETABLE ABSTRACT: Simple risk score predicts preterm pre-eclampsia in Italy.


Sujet(s)
Pré-éclampsie/diagnostic , Appréciation des risques/normes , Adulte , Algorithmes , Études cas-témoins , Diagnostic précoce , Femelle , Humains , Italie/épidémiologie , Pré-éclampsie/épidémiologie , Valeur prédictive des tests , Grossesse , Premier trimestre de grossesse , Études rétrospectives
6.
Clin Park Relat Disord ; 3: 100034, 2020.
Article de Anglais | MEDLINE | ID: mdl-34316620

RÉSUMÉ

•Screening tests can diagnose PD-MCI but do not give detailed cognitive profiles.•Criteria based on a complete neuropsychological battery identify more PD patients with MCI.•The overall cognitive profile is similar in PD-MCI and MCI.•Neuropsychological batteries and definition of impairment cut-offs should be refined.

7.
Eur Psychiatry ; 57: 52-57, 2019 04.
Article de Anglais | MEDLINE | ID: mdl-30677548

RÉSUMÉ

BackgroundThe aim of this study was to characterize mood instability (MI) in Bipolar Disorder (BD) and to investigate potential differences between subtype I and II. MethodsLife-charts from weekly mood ratings of 90 patients were used to compute: weeks spent with symptoms, number of episodes, and MI. Regression analyses were conducted to assess the relationship between BD subtype and MI adjusting by all potential confounding factors. Hierarchical cluster analysis was performed to determine the appropriate number of clusters that described the data and to assign subjects to a specific cluster based on their MI. We then compared clusters on clinical and psychosocial outcomes. ResultsMedian follow-up was 5 years (IQR: 3.6-7.9). Patients spent 15.2%, 5%, and 3% of follow-up with depressive, manic, and mixed symptoms, respectively. BD type II presented higher MI (ß = 1.83, 95% CI: 0.66-3.00) and subsydromal symptoms than BD type I patients. No differences in functioning or recurrences were found between subtypes. Differences in MI between the two clusters mimicked those between type I and II but enhanced (ß = 3.86, 95%CI -4.72, -2.66). High MI (n = 43) patients presented poorer functioning and higher recurrences compared to Low MI patients (n = 43). ConclusionBD type II presented higher MI and subsyndromal symptoms than BD type I patients. However, these differences did not translate into clinically relevant outcomes. A classification based on MI may provide useful clinical insights.


Sujet(s)
Affect , Trouble bipolaire/psychologie , Dépression/psychologie , Évaluation des résultats des patients , Adulte , Trouble bipolaire/complications , Analyse de regroupements , Dépression/complications , Femelle , Études de suivi , Humains , Mâle , Adulte d'âge moyen , Études prospectives , Récidive
8.
J Environ Manage ; 235: 202-212, 2019 Apr 01.
Article de Anglais | MEDLINE | ID: mdl-30682673

RÉSUMÉ

Hydrochloric acid recovery from pickling solutions was studied by employing a batch diffusion dialysis (DD) laboratory test-rig equipped with Fumasep membranes. The effect of main operating parameters such as HCl concentration (0.1-3 M) and the presence of Fe2+ (up to 150 g/l) was investigated to simulate the system operation with real industrial streams. The variation of HCl, Fe2+ and water flux was identified. When only HCl is present, a recovery efficiency of 100% was reached. In the presence of FeCl2, higher acid recovery efficiencies, up to 150%, were observed due to the so-called "salt effect", which promotes the passage of acid even against its concentration gradient. A 7% leakage of FeCl2 was detected in the most severe conditions. An original analysis on water flux in DD operation has indicated that osmotic flux prevails at low HCl concentrations, while a dominant "drag flux" in the opposite direction is observed for higher HCl concentrations. A comprehensive mathematical model was developed and validated with experimental data. The model has a time and space distributed-parameters structure allowing to effectively simulate steady-state and transient batch operations, thus providing an operative tool for the design and optimisation of DD units.


Sujet(s)
Acide chlorhydrique , Dialyse rénale , Acides , Diffusion , Osmose
9.
Ultrasound Obstet Gynecol ; 54(6): 732-739, 2019 Dec.
Article de Anglais | MEDLINE | ID: mdl-30207002

RÉSUMÉ

OBJECTIVE: To evaluate the association between fetal growth restriction (FGR) and maternal hemodynamic parameters using multivariable analysis, adjusting for major confounding factors, such as hypertensive disorders of pregnancy (pre-eclampsia and gestational hypertension). METHODS: A prospective cohort study was conducted between January 2013 and April 2016. Two cohorts of patients were recruited, between 24 and 39 weeks of gestation, in a high-risk outpatient setting. These cohorts comprised 49 appropriate-for-gestational-age singleton fetuses and 93 that were FGR (abdominal circumference (AC) at recruitment in the second half of pregnancy ≤ 10th percentile with a previous normal AC at 20-22 weeks). Maternal echocardiography was performed at the time of enrolment and included hemodynamic parameters of systolic and diastolic function and cardiac remodeling indices. Data were analyzed using a multivariable generalized linear model to estimate the association of FGR with maternal hemodynamic parameters after adjusting for significant confounding factors. RESULTS: In the multivariable analysis, after adjustment for hypertensive disorders of pregnancy and smoking, FGR was associated with a 14% increase in maternal total vascular resistance, 16% reduction in cardiac output, 13% reduction in left ventricular mass and 11% reduction in heart rate; similar results were observed for the corresponding indexed parameters. Hypertensive disorders of pregnancy in the absence of FGR were associated with a 25% increase in total vascular resistance, 16% increase in left ventricular mass and 14% reduction in diastolic function; similar results were observed for the corresponding indexed parameters. CONCLUSION: FGR is significantly and independently associated with several maternal hemodynamic parameters, even after adjustment for major confounding factors, such as hypertensive disorders of pregnancy. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.


Sujet(s)
Débit cardiaque/physiologie , Échocardiographie/méthodes , Retard de croissance intra-utérin/étiologie , Hémodynamique/physiologie , Résistance vasculaire/physiologie , Adulte , Diastole/physiologie , Femelle , Retard de croissance intra-utérin/épidémiologie , Retard de croissance intra-utérin/physiopathologie , Âge gestationnel , Humains , Hypertension artérielle gravidique/traitement médicamenteux , Hypertension artérielle gravidique/épidémiologie , Adulte d'âge moyen , Artère cérébrale moyenne/imagerie diagnostique , Artère cérébrale moyenne/physiologie , , Mortalité périnatale/tendances , Pré-éclampsie/épidémiologie , Grossesse , Complications de la grossesse/épidémiologie , Études prospectives , Échographie-doppler couleur/méthodes , Artères ombilicales/imagerie diagnostique , Artères ombilicales/physiologie , Artère utérine/imagerie diagnostique , Artère utérine/physiologie , Remodelage ventriculaire/physiologie
10.
Sci Rep ; 8(1): 12118, 2018 08 14.
Article de Anglais | MEDLINE | ID: mdl-30108321

RÉSUMÉ

Some cultured and natural pearls can be reliably distinguished by visual inspection and by the use of lens and microscope. However, assessing the origin of the pearls could be not straightforward since many different production techniques can now be found in the pearl market, for example in salt or freshwater environments, with or without a rigid nucleus. This wide range of products requires the use of new effective scientific techniques. Indeed, X-ray radiography has been used by gemologists since last century as the only safe and non-destructive way to visually inspect the interior of a pearl, and recently, also X-ray computed micro-tomography was used to better visualize the inner parts of the gems. In this study we analyzed samples of natural and cultured pearls by means of two non-destructive techniques: the X-ray Phase-Contrast Imaging (PCI) and the Neutron Imaging (NI). PCI and NI results will be combined for the first time, to better visualize the pearls internal morphology, thus giving relevant indications on the pearl formation process.

11.
Eur J Neurol ; 25(10): 1255-1261, 2018 10.
Article de Anglais | MEDLINE | ID: mdl-29806962

RÉSUMÉ

BACKGROUND AND PURPOSE: Pain is highly prevalent in Parkinson's disease (PD), impacting patients' ability, mood and quality of life. Detecting the presence of pain in its multiple modalities is necessary for adequate personalized management of PD. A 14-item, PD-specific, patient-based questionnaire (the King's Parkinson's Disease Pain Questionnaire, KPPQ) was designed corresponding to the rater-based KPP Scale (KPPS). The present multicentre study was aimed at testing the validity of this screening tool. METHODS: First, a comparison between the KPPQ scores of patients and matched controls was performed. Next, convergent validity, reproducibility (test-retest) and diagnostic performance of the questionnaire were analysed. RESULTS: Data from 300 patients and 150 controls are reported. PD patients declared significantly more pain symptoms than controls (3.96 ± 2.56 vs. 2.17 ± 1.39; P < 0.0001). The KPPQ convergent validity was high with KPPS total score (rS  = 0.80) but weak or moderate with other pain assessments. Test-retest reliability was satisfactory with kappa values ≥0.65 except for item 5, Dyskinetic pains (κ = 0.44), and the intraclass correlation coefficient (ICC) for the KPPQ total score was 0.98. After the scores of the KPPS were adapted for screening (0, no symptom; ≥1, symptom present), a good agreement was found between the KPPQ and the KPPS (ICC = 0.88). A strong correlation (rS  = 0.80) between the two instruments was found. The diagnostic parameters of the KPPQ were very satisfactory as a whole, with a global accuracy of 78.3%-98.3%. CONCLUSIONS: These results suggest that the KPPQ is a useful, reliable and valid screening instrument for pain in PD to advance patient-related outcomes.


Sujet(s)
Douleur/diagnostic , Maladie de Parkinson/complications , Qualité de vie , Enquêtes et questionnaires , Sujet âgé , Études transversales , Femelle , Humains , Mâle , Adulte d'âge moyen , Douleur/complications , Mesure de la douleur , Maladie de Parkinson/physiopathologie , Reproductibilité des résultats
12.
PLoS One ; 12(7): e0180812, 2017.
Article de Anglais | MEDLINE | ID: mdl-28708864

RÉSUMÉ

Youth with Tourette syndrome (TS) exhibit, compared to healthy, abnormal ability to lateralize digital sequential tasks. It is unknown whether this trait is related to inter-hemispheric connections, and whether it is preserved or lost in patients with TS persisting through adult life. We studied 13 adult TS patients and 15 age-matched healthy volunteers. All participants undertook: 1) a finger opposition task, performed with the right hand (RH) only or with both hands, using a sensor-engineered glove in synchrony with a metronome at 2 Hz; we calculated a lateralization index [(single RH-bimanual RH)/single RH X 100) for percentage of correct movements (%CORR); 2) MRI-based diffusion tensor imaging and probabilistic tractography of inter-hemispheric corpus callosum (CC) connections between supplementary motor areas (SMA) and primary motor cortices (M1). We confirmed a significant increase in the %CORR in RH in the bimanual vs. single task in TS patients (p<0.001), coupled to an abnormal ability to lateralize finger movements (significantly lower lateralization index for %CORR in TS patients, p = 0.04). The %CORR lateralization index correlated positively with tic severity measured with the Yale Global Tic Severity Scale (R = 0.55;p = 0.04). We detected a significantly higher fractional anisotropy (FA) in both the M1-M1 (p = 0.036) and the SMA-SMA (p = 0.018) callosal fibre tracts in TS patients. In healthy subjects, the %CORR lateralization index correlated positively with fractional anisotropy of SMA-SMA fibre tracts (R = 0.63, p = 0.02); this correlation was not significant in TS patients. TS patients exhibited an abnormal ability to lateralize finger movements in sequential tasks, which increased in accuracy when the task was performed bimanually. This abnormality persists throughout different age periods and appears dissociated from the transcallosal connectivity of motor cortical regions. The altered interhemispheric transfer of motor abilities in TS may be the result of compensatory processes linked to self-regulation of motor control.


Sujet(s)
Cortex moteur/physiologie , Syndrome de Tourette/physiopathologie , Adulte , Phénomènes biomécaniques , Études cas-témoins , Corps calleux/physiologie , Imagerie par tenseur de diffusion , Femelle , Main/physiologie , Humains , Traitement d'image par ordinateur , Imagerie par résonance magnétique , Mâle , Adulte d'âge moyen , Cortex moteur/imagerie diagnostique , Mouvement/physiologie , Indice de gravité de la maladie , Jeune adulte
13.
Clin Exp Allergy ; 47(8): 1032-1037, 2017 Aug.
Article de Anglais | MEDLINE | ID: mdl-28544327

RÉSUMÉ

BACKGROUND: Food allergies pose a considerable world-wide public health burden with incidence as high as one in ten in 12-month-old infants. Few food allergy genetic risk variants have yet been identified. The Th2 immune gene IL13 is a highly plausible genetic candidate as it is central to the initiation of IgE class switching in B cells. OBJECTIVE: Here, we sought to investigate whether genetic polymorphisms at IL13 are associated with the development of challenge-proven IgE-mediated food allergy. METHOD: We genotyped nine IL13 "tag" single nucleotide polymorphisms (tag SNPs) in 367 challenge-proven food allergic cases, 199 food-sensitized tolerant cases and 156 non-food allergic controls from the HealthNuts study. 12-month-old infants were phenotyped using open oral food challenges. SNPs were tested using Cochran-Mantel-Haenszel test adjusted for ancestry strata. A replication study was conducted in an independent, co-located sample of four paediatric cohorts consisting of 203 food allergic cases and 330 non-food allergic controls. Replication sample phenotypes were defined by clinical history of reactivity, 95% PPV or challenge, and IL13 genotyping was performed. RESULTS: IL13 rs1295686 was associated with challenge-proven food allergy in the discovery sample (P=.003; OR=1.75; CI=1.20-2.53). This association was also detected in the replication sample (P=.03, OR=1.37, CI=1.03-1.82) and further supported by a meta-analysis (P=.0006, OR=1.50). However, we cannot rule out an association with food sensitization. Carriage of the rs1295686 variant A allele was also associated with elevated total plasma IgE. CONCLUSIONS AND CLINICAL RELAVANCE: We show for the first time, in two independent cohorts, that IL13 polymorphism rs1295686 (in complete linkage disequilibrium with functional variant rs20541) is associated with challenge-proven food allergy.


Sujet(s)
Allèles , Immunoglobuline E/immunologie , Interleukine-13/génétique , Déséquilibre de liaison , Hypersensibilité aux noix et aux arachides , Polymorphisme de nucléotide simple , Lymphocytes auxiliaires Th2/immunologie , Australie , Femelle , Humains , Nourrisson , Interleukine-13/immunologie , Mâle , Méta-analyse comme sujet , Hypersensibilité aux noix et aux arachides/génétique , Hypersensibilité aux noix et aux arachides/immunologie , Hypersensibilité aux noix et aux arachides/anatomopathologie , Lymphocytes auxiliaires Th2/anatomopathologie
14.
Allergy ; 72(9): 1356-1364, 2017 Sep.
Article de Anglais | MEDLINE | ID: mdl-28213955

RÉSUMÉ

BACKGROUND: A defective skin barrier is hypothesized to be an important route of sensitization to dietary antigens and may lead to food allergy in some children. Missense mutations in the serine peptidase inhibitor Kazal type 5 (SPINK5) skin barrier gene have previously been associated with allergic conditions. OBJECTIVE: To determine whether genetic variants in and around SPINK5 are associated with IgE-mediated food allergy. METHOD: We genotyped 71 "tag" single nucleotide polymorphisms (tag-SNPs) within a region spanning ~263 kb including SPINK5 (~61 kb) in n=722 (n=367 food-allergic, n=199 food-sensitized-tolerant and n=156 non-food-allergic controls) 12-month-old infants (discovery sample) phenotyped for food allergy with the gold standard oral food challenge. Transepidermal water loss (TEWL) measures were collected at 12 months from a subset (n=150) of these individuals. SNPs were tested for association with food allergy using the Cochran-Mantel-Haenszel test adjusting for ancestry strata. Association analyses were replicated in an independent sample group derived from four paediatric cohorts, total n=533 (n=203 food-allergic, n=330 non-food-allergic), mean age 2.5 years, with food allergy defined by either clinical history of reactivity, 95% positive predictive value (PPV) or challenge, corrected for ancestry by principal components. RESULTS: SPINK5 variant rs9325071 (A⟶G) was associated with challenge-proven food allergy in the discovery sample (P=.001, OR=2.95, CI=1.49-5.83). This association was further supported by replication (P=.007, OR=1.58, CI=1.13-2.20) and by meta-analysis (P=.0004, OR=1.65). Variant rs9325071 is associated with decreased SPINK5 gene expression in the skin in publicly available genotype-tissue expression data, and we generated preliminary evidence for association of this SNP with elevated TEWL also. CONCLUSIONS: We report, for the first time, association between SPINK5 variant rs9325071 and challenge-proven IgE-mediated food allergy.


Sujet(s)
Hypersensibilité alimentaire/immunologie , Immunoglobuline E/immunologie , Mutation/immunologie , Inhibiteur de sérine peptidase de type Kazal-5/génétique , Enfant d'âge préscolaire , Prédisposition génétique à une maladie , Humains , Nourrisson , Phénotype , Polymorphisme de nucléotide simple , Valeur prédictive des tests , Perte insensible en eau/génétique
15.
Clin Exp Allergy ; 47(2): 217-223, 2017 Feb.
Article de Anglais | MEDLINE | ID: mdl-27883235

RÉSUMÉ

BACKGROUND: Genetic variants for IgE-mediated peanut allergy are yet to be fully characterized and to date only one genomewide association study (GWAS) has been published. OBJECTIVE: To identify genetic variants associated with challenge-proven peanut allergy. METHODS: We carried out a GWAS comparing 73 infants with challenge-proven IgE-mediated peanut allergy against 148 non-allergic infants (all ~ 1 year old). We tested a total of 3.8 million single nucleotide polymorphisms, as well as imputed HLA alleles and amino acids. Replication was assessed by de novo genotyping in a panel of additional 117 cases and 380 controls, and in silico testing in two independent GWAS cohorts. RESULTS: We identified 21 independent associations at P ≤ 5 × 10-5 but were unable to replicate these. The most significant HLA association was the previously reported amino acid variant located at position 71, within the peptide-binding groove of HLA-DRB1 (P = 2 × 10-4 ). Our study therefore reproduced previous findings for the association between peanut allergy and HLA-DRB1 in this Australian population. CONCLUSIONS AND CLINICAL RELEVANCE: Genetic determinants for challenge-proven peanut allergy include alleles at the HLA-DRB1 locus.


Sujet(s)
Substitution d'acide aminé , Prédisposition génétique à une maladie , Étude d'association pangénomique , Chaines HLA-DRB1/génétique , Hypersensibilité aux arachides/génétique , Hypersensibilité aux arachides/immunologie , Polymorphisme génétique , Allèles , Génotype , Chaines HLA-DRB1/composition chimique , Chaines HLA-DRB1/immunologie , Humains , Odds ratio , Polymorphisme de nucléotide simple
16.
Eur Psychiatry ; 40: 55-59, 2017 02.
Article de Anglais | MEDLINE | ID: mdl-27855308

RÉSUMÉ

BACKGROUND: Evidence about the clinical course of bipolar disorder is inconsistent and limited. The aim of this study was to assess changes in morbidity in patients with bipolar disorder along a mean follow-up period of 80months. METHODS: Based on a mirror-image design, the follow-up period of each patient was divided into two halves. Then, three measures of morbidity - number of affective episodes, time spent ill, and cycle length - were recorded and compared between each half of the follow-up period. RESULTS: On average, there was a trend to a smaller amount of time spent with subclinical symptomatology during the second half of the follow-up period. In contrast, there were no differences in terms of number of episodes, time spent with clinical symptoms, or cycle length between the first and second half of the follow-up period. A subgroup analysis identified 21.9% of patients with consistent data of a worsening during follow-up. CONCLUSIONS: The results suggest that, on average, there is stability or slight improvement of clinical morbidity over the course of BD. Then, worsening of the clinical course may be a feature of a subgroup of patients rather than an inherent characteristic of the disorder. These subgroups or patient profiles could represent an opportunity for further studies to assess clinical, pathophysiologic, and therapeutic features associated with them.


Sujet(s)
Trouble bipolaire/physiopathologie , Indice de gravité de la maladie , Adulte , Trouble bipolaire/diagnostic , Comorbidité , Femelle , Études de suivi , Humains , Études longitudinales , Mâle , Adulte d'âge moyen , Échelles d'évaluation en psychiatrie
17.
Eur Psychiatry ; 39: 17-26, 2017 01.
Article de Anglais | MEDLINE | ID: mdl-27810614

RÉSUMÉ

BACKGROUND: Neuropsychological deficits are present in both major depression and bipolar disorder. So far, however, reports directly comparing these mood disorders with regard to cognitive outcomes have been scant and yielded inconsistent results. This work aims to combine the findings of comparative studies of cognition in major depression and bipolar disorder in order to explore whether these neuropsychiatric conditions present with distinct cognitive features. METHODS: The main online databases were extensively searched to retrieve reports assessing neurocognitive functioning in two groups of mood disorder patients, one with major depressive disorder and another with bipolar disorder, both in the same phase of illness. Between-group effect sizes for cognitive variables were obtained from selected studies and pooled by means of meta-analytic procedures. RESULTS: During euthymia, a significant overall effect size (Hedges'g=0.64, P<0.001) favoring major depressive disorder was found for verbal memory as assessed with list learning tests, whereas no significant between-group differences were found for the remaining variables analyzed. During depressive episodes, similar cognitive outcomes were observed between groups. CONCLUSION: At present, it is not possible to postulate specific neuropsychological profiles for major depression and bipolar disorder in light of available evidence. It remains to be ascertained whether the differences found for verbal memory constitute an expression of distinct underlying mechanisms or whether they are best explained by sample characteristics or differential exposure to variables with a negative impact on cognition.


Sujet(s)
Trouble bipolaire/épidémiologie , Troubles de la cognition/épidémiologie , Trouble dépressif majeur/épidémiologie , Adulte , Trouble bipolaire/psychologie , Cognition , Troubles de la cognition/psychologie , Trouble dépressif majeur/psychologie , Femelle , Humains , Mâle , Mémoire , Tests neuropsychologiques , Échelles d'évaluation en psychiatrie
18.
Eur J Obstet Gynecol Reprod Biol ; 206: 6-11, 2016 Nov.
Article de Anglais | MEDLINE | ID: mdl-27612213

RÉSUMÉ

OBJECTIVE: To explore maternal cardiac deceleration capacity (DC), a marker of autonomic function derived from electrocardiographic (ECG) signals, in pregnancies complicated by intrauterine growth restriction (IUGR) and hypertensive disorders of pregnancy (HDP) associated to IUGR (HDP-IUGR) or to appropriate for gestational age fetal growth (HDP-AGAf). METHODS: Prospective single center case-control study conducted at Buzzi Children's Hospital, Milan. Maternal ECGs were analyzed by Phase Rectified Signal Averaging (PRSA) method to obtain cardiac DC in women with: HDP-IUGR, HDP-AGAf, severe-IUGR, mild-IUGR and uncomplicated pregnancies. IUGR was defined as abdominal circumference <5th centile; severe-IUGR was associated with umbilical artery Doppler pulsatility index >2 standard deviations. Non-parametric tests were adopted. RESULTS: 269 women were recruited. Women with HDP-IUGR (n=35) showed significantly higher cardiac DC compared both to controls (n=141) (p=0.003) and women with HDP-AGAf (n=18) (p=0.01). Women with severe-IUGR (n=14) showed significantly higher DC than controls (p=0.01). Women with mild-IUGR (n=61) as well as women with HDP-AGAf showed no differences in DC compared to controls (both p=0.3). CONCLUSIONS: Women with pregnancy complicated by severe placental failure, such as HDP-IUGR and severe IUGR, show significant autonomic alterations, as indicated by elevated cardiac DC. On the contrary, pregnancy complications such as HDP-AGAf and mild IUGR show no impact on maternal autonomic balance. We present a new approach to explore maternal autonomic cardiovascular regulation that might reflect the severity of placental vascular insufficiency.


Sujet(s)
Système nerveux autonome/physiopathologie , Retard de croissance intra-utérin/physiopathologie , Rythme cardiaque/physiologie , Coeur/physiopathologie , Hypertension artérielle gravidique/physiopathologie , Adulte , Système nerveux autonome/imagerie diagnostique , Études cas-témoins , Décélération , Électrocardiographie , Femelle , Retard de croissance intra-utérin/imagerie diagnostique , Humains , Hypertension artérielle gravidique/imagerie diagnostique , Placenta/imagerie diagnostique , Placenta/physiopathologie , Insuffisance placentaire/imagerie diagnostique , Insuffisance placentaire/physiopathologie , Grossesse , Études prospectives , Échographie prénatale , Artères ombilicales/imagerie diagnostique , Artères ombilicales/physiopathologie
19.
Rev Neurol (Paris) ; 172(8-9): 446-454, 2016.
Article de Anglais | MEDLINE | ID: mdl-27476415

RÉSUMÉ

INTRODUCTION: Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Psychiatric comorbidity is frequent but does not enter into the official classification of the syndrome. In the present article, we will focus on treatment options for tics. METHODS: We have reviewed the relevant literature on treatment of tics and GTS, especially in the period from 2011-2016 since the publication of the European Society for the Study of Tourette Syndrome (ESSTS) treatment guidelines in 2011. RESULTS: We present current and up-to-date approaches in psychotherapy, pharmacotherapy and neurosurgery for GTS with an outlook for the upcoming years. CONCLUSIONS: Although many patients and health-care professionals seem to view tics and/or GTS as difficult to treat, or believe that treatment requires severe side effects with reduction in quality of life, we wish to convey that there is cause for optimism, both with regard to available treatment modalities and future therapeutic developments.


Sujet(s)
Syndrome de Tourette/thérapie , Neuroleptiques/usage thérapeutique , Stimulation cérébrale profonde , Humains , Marijuana médicale/usage thérapeutique , Thérapie moléculaire ciblée/tendances , Procédures de neurochirurgie/méthodes , Sélection de patients , Psychothérapie/méthodes
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