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32 results on '"Pinard, A.-M."'

3. Additional file 1 of Strategies aimed at preventing long-term opioid use in trauma and orthopaedic surgery: a scoping review

Author

C��t��, C., B��rub��, M., Moore, L., Lauzier, F., Tremblay, L., Belzile, E., Martel, M-O, Pag��, G., Beaulieu, Y., Pinard, A. M., Perreault, K., Sirois, C., Grzelak, S., and Turgeon, A. F.

Abstract

Additional file 1. Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) Checklist.

Published
2022
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6. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Author

van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grünewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D’Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C, Mancini, G M, and Salomons, G S

Published
2013
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13. Pilot Study of French-Canadian Lifestyle Redesign ® for Chronic Pain Management.

Author

Lagueux, É., Masse, J., Levasseur, M., Pagé, R., Dépelteau, A., Lévesque, M.-H., Tousignant-Laflamme, Y., and Pinard, A.-M.

Subjects
CHRONIC pain, PILOT projects, HEALTH behavior, PAIN management, BEHAVIOR modification
Abstract

As chronic pain (CP) interferes with an individual's lifestyle by limiting meaningful activities and health-related quality of life (HRQoL), occupational therapy (OT) plays an important role in CP management interventions. This pilot study aimed to explore the influence of a 13-week French-Canadian Lifestyle Redesign® for CP. A mixed-methods research design including a preexperimental quantitative component pre-/posttest was used with 15 participants with fibromyalgia. Although pain remained unchanged after the intervention, improvements were observed in participants' engagement in meaningful activities (p <.01), life balance (p <.01), mental components of HRQoL (p <.01), depressive symptoms (p =.047), and pain self-efficacy (p <.01). After the intervention, phone interviews (n = 6) highlighted the participants' appreciation of the focus being placed on their daily routines and the development of a sense of belonging throughout the intervention. This study suggests the potential feasibility and benefits of an occupation-based approach in CP management. [ABSTRACT FROM AUTHOR]

Published
2021
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14. Pilot Study of French-Canadian Lifestyle Redesign®for Chronic Pain Management

Author

Lagueux, É., Masse, J., Levasseur, M., Pagé, R., Dépelteau, A., Lévesque, M.-H., Tousignant-Laflamme, Y., and Pinard, A.-M.

Abstract

As chronic pain (CP) interferes with an individual’s lifestyle by limiting meaningful activities and health-related quality of life (HRQoL), occupational therapy (OT) plays an important role in CP management interventions. This pilot study aimed to explore the influence of a 13-week French-Canadian Lifestyle Redesign®for CP. A mixed-methods research design including a preexperimental quantitative component pre-/posttest was used with 15 participants with fibromyalgia. Although pain remained unchanged after the intervention, improvements were observed in participants’ engagement in meaningful activities (p< .01), life balance (p< .01), mental components of HRQoL (p< .01), depressive symptoms (p= .047), and pain self-efficacy (p< .01). After the intervention, phone interviews (n= 6) highlighted the participants’ appreciation of the focus being placed on their daily routines and the development of a sense of belonging throughout the intervention. This study suggests the potential feasibility and benefits of an occupation-based approach in CP management.

Published
2021
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15. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Author

UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de neurologie pédiatrique, van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grünewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, Marie-Cécile, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Yves, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C, Mancini, G M, Salomons, G S, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de neurologie pédiatrique, van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grünewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, Marie-Cécile, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Yves, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C, Mancini, G M, and Salomons, G S

Abstract

BACKGROUND: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype--genotype correlation has been lacking. METHODS: We performed a retrospective study of clinical, biochemical and molecular genetic data of 101 males with X-linked creatine transporter deficiency from 85 families with a pathogenic mutation in the creatine transporter gene (SLC6A8). RESULTS AND CONCLUSIONS: Most patients developed moderate to severe intellectual disability; mild intellectual disability was rare in adult patients. Speech language development was especially delayed but almost a third of the patients were able to speak in sentences. Besides behavioural problems and seizures, mild to moderate motor dysfunction, including extrapyramidal movement abnormalities, and gastrointestinal problems were frequent clinical features. Urinary creatine to creatinine ratio proved to be a reliable screening method besides MR spectroscopy, molecular genetic testing and creatine uptake studies, allowing definition of diagnostic guidelines. A third of patients had a de novo mutation in the SLC6A8 gene. Mothers with an affected son with a de novo mutation should be counselled about a recurrence risk in further pregnancies due to the possibility of low level somatic or germline mosaicism. Missense mutations with residual activity might be associated with a milder phenotype and large deletions extending beyond the 3' end of the SLC6A8 gene with a more severe phenotype. Evaluation of the biochemical phenotype revealed unexpected high creatine levels in cerebrospinal fluid suggesting that the brain is able to synthesise creatine and that the cerebral creatine deficiency is caused by a defect in the reuptake of creatine within the neurones.

Published
2013

16. Subcortical laminar heterotopia in two sisters and their mother: MRI, clinical findings and pathogenesis

Author

van der Valk, P H M, Snoeck, I, Meiners, L C, des Portes, V, Chelly, J, Pinard, J M, Ippel, P F, and van Nieuwenhuizen, O

Subjects
CORTICAL DYSPLASIA, band heterotopia, subcortical laminar heterotopia, NEURONAL MIGRATION, DISORDERS, double cortin, DOUBLE CORTEX, GENE, MRI, lissencephaly
Abstract

MR imaging, clinical data and underlying pathogenesis of subcortical laminar heterotopia (SCLH), also known as band heterotopia, in two sisters and their mother are presented. On MR imaging a different degree of SCLH was found in all three affected family-members. The inversion recovery sequence was considered most useful in the demonstration of the heterotopic band of gray matter and the assessment of cortical thickness. The younger sister presented with epileptic seizures at the age of five months and a delayed achievement of developmental milestones. The older sister of seven years had epileptic seizures since the age of one year, and developmental delay. Their mother has only had one seizure-like episode at the age of 39. Her psychomotor development had been normal. Investigation of DNA samples of the three female family-members revealed a mutation in the X-linked doublecortin gene. Within families with band heterotopia, this gene has also been related to male family members with lissencephaly.

Published
1999

19. Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH)

Author

des Portes, V., primary, Francis, F., additional, Pinard, J.-M., additional, Desguerre, I., additional, Moutard, M.-L., additional, Snoeck, I., additional, Meiners, L. C., additional, Capron, F., additional, Cusmai, R., additional, Ricci, S., additional, Motte, J., additional, Echenne, B., additional, Ponsot, G., additional, Dulac, O., additional, Chelly, J., additional, and Beldjord, C., additional

Published
1998
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21. X-linked malformations of neuronal migration

Author

Dobyns, W. B., primary, Andermann, E., additional, Andermann, F., additional, Czapansky-Beilman, D., additional, Dubeau, F., additional, Dulac, O., additional, Guerrini, R., additional, Hirsch, B., additional, Ledbetter, D. H., additional, Lee, N. S., additional, Motte, J., additional, Pinard, J.-M., additional, Radtke, R. A., additional, Ross, M. E., additional, Tampieri, D., additional, Walsh, C. A., additional, and Truwit, C. L., additional

Published
1996
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28. Diffuse cortical dysplasia, or the 'double cortex' syndrome

Author

Palmini, A., primary, Andermann, F., additional, Aicardi, J., additional, Dulac, O., additional, Chaves, F., additional, Ponsot, G., additional, Pinard, J. M., additional, MD, F. Goutières, additional, Livingston, J., additional, Tampieri, D., additional, MD, E. Andermann, additional, and Robitaille, Y., additional

Published
1991
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31. Pilot Study of French-Canadian Lifestyle Redesign ® for Chronic Pain Management.

Author

Lagueux É, Masse J, Levasseur M, Pagé R, Dépelteau A, Lévesque MH, Tousignant-Laflamme Y, and Pinard AM

Subjects
Canada, Humans, Life Style, Pilot Projects, Pain Management, Quality of Life
Abstract

As chronic pain (CP) interferes with an individual's lifestyle by limiting meaningful activities and health-related quality of life (HRQoL), occupational therapy (OT) plays an important role in CP management interventions. This pilot study aimed to explore the influence of a 13-week French-Canadian Lifestyle Redesign ® for CP. A mixed-methods research design including a preexperimental quantitative component pre-/posttest was used with 15 participants with fibromyalgia. Although pain remained unchanged after the intervention, improvements were observed in participants' engagement in meaningful activities ( p < .01), life balance ( p < .01), mental components of HRQoL ( p < .01), depressive symptoms ( p = .047), and pain self-efficacy ( p < .01). After the intervention, phone interviews ( n = 6) highlighted the participants' appreciation of the focus being placed on their daily routines and the development of a sense of belonging throughout the intervention. This study suggests the potential feasibility and benefits of an occupation-based approach in CP management.

Published
2021
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32. The anesthetic management of a case of tracheogastric fistula.

Author

Roy JS, Girard F, Boudreault D, Pinard AM, and Ferraro P

Subjects
Aged, Bronchoscopy, Humans, Male, Preanesthetic Medication, Respiration, Artificial, Respiratory Distress Syndrome physiopathology, Anesthesia, Inhalation, Fistula surgery, Stomach Diseases surgery, Tracheal Diseases surgery
Abstract

Implications: A 68-yr-old man developed a tracheogastric fistula after esophageal resection with gastric interposition. We report the anesthetic management of this patient undergoing tracheal repair and fistula closure.

Published
2001
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