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The lack of sensitive diagnostic methods to detect Mycobacterium avium subsp. paratuberculosis (Map) subclinical infections has hindered the control of paratuberculosis (PTB). The serum proteomic profiles of naturally infected cows presenting focal and diffuse pathological forms of PTB and negative controls (n = 4 per group) were analyzed using TMT-6plex quantitative proteomics. Focal and diffuse are the most frequent pathological forms in subclinical and clinical stages of PTB, respectively. One (focal versus (vs.) control), eight (diffuse vs. control), and four (focal vs. diffuse) differentially abundant (DA) proteins (q-value < 0.05) were identified. Ingenuity pathway analysis of the DA proteins revealed changes in the acute-phase response and lipid metabolism. Six candidate biomarkers were selected for further validation by specific ELISA using serum from animals with focal, multifocal, and diffuse PTB-associated lesions (n = 108) and controls (n = 56). Overall, the trends of the serum expression levels of the selected proteins were consistent with the proteomic results. Alpha-1-acid glycoprotein (ORM1)-based ELISA, insulin-like growth factor-binding protein 2 (IGFBP2)-based ELISA, and the anti-Map ELISA had the best diagnostic performance for detection of animals with focal, multifocal, and diffuse lesions, respectively. Our findings identify potential biomarkers that improve diagnostic sensitivity of PTB and help to elucidate the mechanisms involved in PTB pathogenesis.
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Introduction: Non-thyroidal illness syndrome (NTIS) is considered to be associated with adverse outcomes in critically ill children.The hypothesis that thyroid hormones and inflammatory markers are associated with increased prediction of mortality risk scores is tested in this paper. Methods: A prospective observational study was set up in a pediatric intensive care unit (PICU). One hundred and three patients were included. NTIS was defined as a low free triiodothyronine (FT3) value for the patient's age. Thyroid hormones levels and inflammatory markers were determined at admission: FT3, FT4 (free thyroxine), TSH (thyroid-stimulating hormone), rT3 (reverse triiodothyronine), CRP (C-reactive protein) and PCT (Procalcitonin). They were compared between children with a pediatric risk of mortality score PRISM-III >75th percentile (group A, n= 25) and the rest (group B, n = 78). Results: A FT4 value lower than 16.6â pmol/L showed an area under the curve (AUC) of 0.655 (0.56-0.78, p = 0.02), with 76% sensitivity and 61.5% specificity to detect a high risk of mortality. A multiple regression analysis revealed that a FT4 lower than 16.6â pmol/L [OR: 4.92 (1.60-18.19), p = 0.009] and having NTIS [OR: 6.04 (1.45-27.93), p = 0.016] could predict a high risk of mortality. Conclusions: In unselected critically ill children, FT4 and FT3 values at admission could be used as a good predictor of a high mortality risk. We have not achieved a predictive model that combines hormones with inflammatory markers.
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BACKGROUND: Tentorial dural arteriovenous fistulas (DAVFs) with perimedullary venous drainage causing cervical myelopathy are very uncommon conditions with an extremely aggressive behavior. When the characteristic radiological clues are missing, the unspecific clinical picture may cause delay and make the diagnosis challenging. OBSERVATIONS: Here the authors report a case of a 58-year-old man who developed progressive spastic tetraparesis and dyspnea with an extensive mild enhancing cervical cord lesion initially oriented as a neurosyphilis-associated transverse myelitis. Acute worsening after steroid administration redirected the diagnosis, and a tentorial Cognard type V DAVF was elicited. The microsurgical disconnection process is described, and previously documented cases in the literature are reviewed. LESSONS: If a DAVF is highly suspected, it is important to consider the possibility of its intracranial origin, and spinal as well as cerebral arteriography must be performed.
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Bovine paratuberculosis (PTB) is a chronic enteritis caused by Mycobacterium avium subspecies paratuberculosis (Map) that causes a heavy economic impact worldwide. Map infected animals can remain asymptomatic for years while transmitting the mycobacteria to other members of the herd. Therefore, accurate detection of subclinically infected animals is crucial for disease control. In a previous RNA-Seq study, we identified several mRNAs that were overexpressed in whole blood of cows with different PTB-associated histological lesions compared with control animals without detected lesions. The proteins encoded by two of these mRNAs, ATP binding cassette subfamily A member 13 (ABCA13) and Matrix Metallopeptidase 8 (MMP8) were significantly overexpressed in whole blood of animals with focal histological lesions, the most frequent pathological form in the subclinical stages of the disease. In the current study, the potential of sensitive early diagnostic tools of commercial ELISAs, based on the detection of these two biomarkers, was evaluated in serum samples of 704 Holstein Friesian cows (566 infected animals and 138 control animals from PTB-free farms). For this evaluation, infected animals were classified into three groups, according to the type of histological lesions present in their gut tissues: focal (n = 447), multifocal (n = 59), and diffuse (n = 60). The ELISA based on the detection of ABCA13 was successfully validated showing good discriminatory power between animals with focal lesions and control animals (sensitivity 82.99% and specificity 80.43%). Conversely, the MMP8-based ELISA showed a poor discriminatory power between the different histological groups and non-infected controls. The ABCA13-based ELISA showed a higher diagnostic value (0.822) than the IDEXX ELISA (0.517), the fecal bacterial isolation (0.523) and the real-time PCR (0.531) for the detection of animals with focal lesions. Overall, our results indicate that this ABCA13 ELISA greatly improves the identification of subclinically infected animals with focal lesions that are undetectable using current diagnostic methods.
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Genetic resource banks (GRB) preserve the genetic material of endangered, valuable individuals or genetically relevant breeds. Semen cryopreservation is a crucial technique to reach these goals. Thus, we aimed to assess the sperm parameters of semen doses from the native pig breed Gochu Asturcelta stored at the GRB of Principado de Asturias (GRB-PA, Gijón, Spain), focusing on intrinsic and extrinsic (boar, season) factors. Two straws per boar (n = 18, 8-71 months of age) were thawed, pooled, and assessed after 30 and 150 min at 37 °C by CASA (computer-assisted sperm analysis system; motility and kinematic parameters) and flow cytometry (viability, acrosomal status, mitochondrial activity, apoptosis, reactive oxygen species, and chromatin status). The effects of age, incubation, and season on post-thawing quality were determined using linear mixed-effects models. Parameters were on the range for commercial boar breeds, with chromatin status (SCSA: fragmentation and immaturity) being excellent. Incubation decreased sperm quality and functionality. The boar age did not have a significant effect (p > 0.05), but the between-boar variability was significant (p < 0.001). The season significantly affected many parameters (motility, kinematics, viability, acrosomal status, mitochondrial activity), especially after 150 min of incubation. In general, samples collected in spring and summer showed higher quality post-thawing, the lowest in winter. In conclusion, the sperm doses from the Gochu Asturcelta breed stored at the GRB-PA showed excellent chromatin status and acceptable characteristics after thawing. Therefore, boar and seasonal variability in this autochthonous breed could be relevant for cryobank management.
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Bovine paratuberculosis (PTB) is a chronic granulomatous enteritis, caused by Mycobacterium avium subsp. paratuberculosis (MAP), responsible for important economic losses in the dairy industry. Current diagnostic methods have low sensitivities for detection of latent forms of MAP infection, defined by focal granulomatous lesions and scarce humoral response or MAP presence. In contrast, patent infections correspond to multifocal and diffuse types of enteritis where there is increased antibody production, and substantial mycobacterial load. Our previous RNA-Seq analysis allowed the selection of five candidate biomarkers overexpressed in peripheral blood of MAP infected Holstein cows with focal (ABCA13 and MMP8) and diffuse (FAM84A, SPARC and DES) lesions vs. control animals with no detectable PTB-associated lesions in intestine and regional lymph nodes. The aim of the current study was to assess the PTB diagnostic potential of commercial ELISAs designed for the specific detection of these biomarkers. The ability of these ELISAs to identify animals with latent and/or patent forms of MAP infection was investigated using serum from naturally infected cattle (n = 88) and non-infected control animals (n = 67). ROC analysis revealed that the ABCA13-based ELISA showed the highest diagnostic accuracy for the detection of infected animals with focal lesions (AUC 0.837, sensitivity 79.25% and specificity 88.06%) and with any type of histological lesion (AUC 0.793, sensitivity 69.41% and specificity 86.57%) improving on the diagnostic performance of the popular IDEXX ELISA and other conventional diagnostic methods. SPARC and MMP8 showed the highest diagnostic accuracy for the detection of animals with multifocal (AUC 0.852) and diffuse lesions (AUC 0.831), respectively. In conclusion, our results suggest that quantification of ABCA13, SPARC and MMP8 by ELISA has the potential for implementation as a diagnostic tool to reliably identify MAP infection, greatly improving early detection of MAP latent infections when antibody responses and fecal shedding are undetectable using conventional diagnostic methods.
Sujet(s)
Maladies des bovins/diagnostic , Bovins/microbiologie , Mycobacterium avium ssp. paratuberculosis/isolement et purification , Paratuberculose/diagnostic , Animaux , Marqueurs biologiques/analyse , Maladies des bovins/anatomopathologie , Test ELISA , Fèces/microbiologie , Femelle , Paratuberculose/anatomopathologie , Courbe ROCRÉSUMÉ
We compared the performance of children with ADHD and typically developing children on two temporal tasks, a bisection task and a reproduction task, in auditory and visual modalities. Children with ADHD presented a larger variability when performing auditory and visual temporal tasks. Moreover, they overestimated the durations in bisection tasks and underproduced duration intervals in the visual reproduction task. In the context of the pacemaker-accumulator model, these results suggest that temporal deficits might result from a dysfunction in the switch and/or memory impairment.
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Trouble déficitaire de l'attention avec hyperactivité/physiopathologie , Troubles de la mémoire/physiopathologie , Adolescent , Attention , Seuil auditif/physiologie , Études cas-témoins , Enfant , Femelle , Humains , MâleRÉSUMÉ
"An International Meeting on Wolf-Hirschhorn Syndrome (WHS)" was held at The University Hospital La Paz in Madrid, Spain (October 13-14, 2017). One hundred and twenty-five people, including physicians, scientists and affected families, attended the meeting. Parent and patient advocates from the Spanish Association of WHS opened the meeting with a panel discussion to set the stage regarding their hopes and expectations for therapeutic advances. In keeping with the theme on therapeutic development, the sessions followed a progression from description of the phenotype and definition of therapeutic endpoints, to definition of genomic changes. These proceedings will review the major points of discussion.
Sujet(s)
Chromosomes humains de la paire 4/immunologie , Incapacités de développement/génétique , Crises épileptiques/génétique , Syndrome de Wolf-Hirschhorn/génétique , Délétion de segment de chromosome , Chromosomes humains de la paire 4/génétique , Incapacités de développement/épidémiologie , Incapacités de développement/anatomopathologie , Femelle , Humains , Phénotype , Crises épileptiques/épidémiologie , Crises épileptiques/thérapie , Espagne/épidémiologie , Syndrome de Wolf-Hirschhorn/épidémiologie , Syndrome de Wolf-Hirschhorn/thérapieRÉSUMÉ
Researchers have suggested that the link between personality traits and Attention-Deficit/Hyperactivity Disorder (ADHD) could be a crucial factor in understanding the disorder's diatheses. The aim of our study was to contribute to research on personality differences (based on fine motor precision - a novel approach) in children with and without ADHD symptoms. The Children Sustained Attention Task (CSAT) and Proprioceptive Diagnostics of Temperament and Character (DP-TC) were administered to children with an ADHD diagnosis and age-matched controls. Correlational and ANOVA analyses were performed to see the association between the results of both tests and the groups' performance. Correlational analysis suggests significant relationships between some personality dimensions (DP-TC) and correct detection in a sustained attention task (CSAT). Statistically significant differences were found between the groups on the personality dimensions (DP-TC), with the following characteristics for ADHD children: (a) temperamental tendency to pessimism; (b) high temperamental excitability; (c) high Emotionality, and (d) Behavioral Rigidity (meaning also less adaptation to changes in the environment, in temperament and character). Correct detection in the sustained attention test was significantly correlated with reaction time and the personality variables Style of Attention and Irritability. The results also showed high proprioceptive Emotionality and lack of emotional control in children with ADHD. This is an exploratory study, investigating for the first time the differences in personality (based on fine motor precision) and the relation of personality traits to scores in sustained attention for children with and without ADHD.
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BACKGROUND: Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of patients with pantothenate kinase-associated neurodegeneration. METHODS: In this international cross-sectional study, patients were examined at the referral centers following a standardized protocol. The motor examination was filmed, allowing 3 independent specialists in movement disorders to analyze 28 patients for interrater reliability assessment. The scale included 34 items (maximal score, 135) encompassing 6 subscales for cognition, behavior, disability, parkinsonism, dystonia, and other neurological signs. RESULTS: Forty-seven genetically confirmed patients (30 ± 17 years; range, 6-77 years) were examined with the scale (mean score, 62 ± 21; range, 20-106). Dystonia with prominent cranial involvement and atypical parkinsonian features were present in all patients. Other common signs were cognitive impairment, psychiatric features, and slow and hypometric saccades. Dystonia, parkinsonism, and other neurological features had a moderate to strong correlation with disability. The scale showed good internal consistency for the total scale (Cronbach's α = 0.87). On interrater analysis, weighted kappa values (0.30-0.93) showed substantial or excellent agreement in 85% of the items. The scale also discriminated a subgroup of homozygous c.1583C>T patients with lower scores, supporting construct validity for the scale. CONCLUSIONS: The proposed scale seems to be a reliable and valid instrument for the assessment of pediatric and adult patients with pantothenate kinase-associated neurodegeneration. Additional validation studies with a larger sample size will be required to confirm the present results and to complete the scale validation testing. © 2017 International Parkinson and Movement Disorder Society.
Sujet(s)
Personnes handicapées , Dystonie/diagnostic , Neurodégénérescence associée à la pantothénate kinase/diagnostic , Syndromes parkinsoniens/diagnostic , Indice de gravité de la maladie , Adolescent , Adulte , Sujet âgé , Enfant , Dysfonctionnement cognitif/diagnostic , Dysfonctionnement cognitif/étiologie , Études transversales , Dystonie/étiologie , Humains , Troubles mentaux/diagnostic , Troubles mentaux/étiologie , Adulte d'âge moyen , Troubles de la motilité oculaire/diagnostic , Troubles de la motilité oculaire/étiologie , Neurodégénérescence associée à la pantothénate kinase/complications , Neurodégénérescence associée à la pantothénate kinase/génétique , Syndromes parkinsoniens/étiologie , Projets pilotes , Reproductibilité des résultats , Jeune adulteRÉSUMÉ
BACKGROUND: Previous studies have shown the importance of motor control in children with attention deficit hyperactivity disorder. The objective of our study was to verify any statistically significant differences of fine motor performance in children with attention deficit hyperactivity disorder (ADHD) symptoms compared to the control group in proprioceptive sensory condition. METHOD: Proprioceptive Diagnostics of Temperament and Character was used for the measurement of fi ne motor precision (proprioceptive sensory condition). The biases from the linear models (lineograms) and line length were registered for three movement types (frontal, transversal and sagittal) in both hands. Line length variability was obtained from the parallels. RESULTS: MANOVA with Bonferroni correction for multiple comparisons revealed significant statistically differences between the ADHD and control group in fine motor graphical performance in four variables. Age and sex differences were taken into account and discussed. Discriminant analysis confirmed that both groups can be classified at a statistically significant level. CONCLUSION: This is the first empirical study to compare differences between children with and without ADHD symptoms in fine motor precision performed in theproprioceptive condition. Discriminant analysis confirmed the capacity of some specific movement type to classify the groups
ANTECEDENTES: estudios han demostrado la importancia del control motriz en niños con Trastorno por Déficit de Atención con Hiperactividad. El objetivo fue comprobar diferencias significativas en el funcionamiento de la precisión motriz fina en niños con síntomas de un Trastorno por Déficit de Atención con Hiperactividad (TDAH) en comparación con el grupo de control, en condiciones sensoriales propioceptivas. MÉTODO: el diagnóstico propioceptivo de temperamento y carácter fue utilizado para medir la precisión motriz fi na. Registrando los desvíos de lineogramas y de la longitud de la línea modelo en tres tipos de movimientos (frontales, transversales y sagitales) en ambas manos. Y la variabilidad de la longitud de la línea fue obtenida de los paralelos. RESULTADOS: MANOVA con correcciones de Bonferroni para comparaciones múltiples mostraron diferencias significativas entre el grupo experimental y el grupo control en la respuesta gráfica motriz fina en cuatro variables. Tomando en cuenta diferencias de edad y género, el análisis discriminante confirmó que ambos grupos pueden ser clasificados en un nivel estadísticamente significativo. CONCLUSIONES: este es el primer estudio empírico que tiene como objetivo comparar las diferencias en la precisión motriz fina entre niños con y sin síntomas de TDAH
Sujet(s)
Enfant , Humains , Trouble déficitaire de l'attention avec hyperactivité/diagnostic , Trouble déficitaire de l'attention avec hyperactivité/psychologie , Troubles des habiletés motrices , Proprioception , Psychologie comparativeRÉSUMÉ
BACKGROUND: Previous studies have shown the importance of motor control in children with attention deficit hyperactivity disorder. The objective of our study was to verify any statistically significant differences of fine motor performance in children with attention deficit hyperactivity disorder (ADHD) symptoms compared to the control group in proprioceptive sensory condition. METHOD: Proprioceptive Diagnostics of Temperament and Character was used for the measurement of fine motor precision (proprioceptive sensory condition). The biases from the linear models (lineograms) and line length were registered for three movement types (frontal, transversal and sagittal) in both hands. Line length variability was obtained from the parallels. RESULTS: MANOVA with Bonferroni correction for multiple comparisons revealed significant statistically differences between the ADHD and control group in fine motor graphical performance in four variables. Age and sex differences were taken into account and discussed. Discriminant analysis confirmed that both groups can be classified at a statistically significant level. CONCLUSION: This is the first empirical study to compare differences between children with and without ADHD symptoms in fine motor precision performed in the proprioceptive condition. Discriminant analysis confirmed the capacity of some specific movement type to classify the groups.
Sujet(s)
Trouble déficitaire de l'attention avec hyperactivité/diagnostic , Trouble déficitaire de l'attention avec hyperactivité/physiopathologie , Proprioception , Performance psychomotrice , Adolescent , Analyse de variance , Enfant , Femelle , Humains , MâleRÉSUMÉ
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