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Loss Of Atrx Does Not Confer Susceptibility To Osteoarthritis, Lauren A. Solomon, Bailey A. Russell, David Makar, Nathalie G. Bérubé, Frank Beier
Loss Of Atrx Does Not Confer Susceptibility To Osteoarthritis, Lauren A. Solomon, Bailey A. Russell, David Makar, Nathalie G. Bérubé, Frank Beier
Paediatrics Publications
The chromatin remodelling protein ATRX is associated with the rare genetic disorder ATR-X syndrome. This syndrome includes developmental delay, cognitive impairment, and a variety of skeletal deformities. ATRX plays a role in several basic chromatin-mediated cellular events including DNA replication, telomere stability, gene transcription, and chromosome congression and cohesion during cell division. We have used a loss-of-function approach to directly investigate the role of Atrx in the adult skeleton in three different models of selective Atrx loss. We specifically targeted deletion of Atrx to the forelimb mesenchyme, to cartilage and to bone-forming osteoblasts. We previously demonstrated that loss of ATRX …
Infections In Children With Down Syndrome And Acute Myeloid Leukemia: A Report From The Canadian Infections In Aml Research Group, Thai Hoa Tran, David Mitchell, David Dix, Sonia Cellot, Marie Chantal Ethier, Biljana Gillmeister, Johann Hitzler, Victor Lewis, Rochelle Yanofsky, Donna L. Johnston, Carol Portwine, Victoria Price, Shayna Zelcer, Mariana Silva, Bruno Michon, Lynette Bowes, Kent Stobart, Josee Brossard, Joseph Beyene, Lillian Sung
Infections In Children With Down Syndrome And Acute Myeloid Leukemia: A Report From The Canadian Infections In Aml Research Group, Thai Hoa Tran, David Mitchell, David Dix, Sonia Cellot, Marie Chantal Ethier, Biljana Gillmeister, Johann Hitzler, Victor Lewis, Rochelle Yanofsky, Donna L. Johnston, Carol Portwine, Victoria Price, Shayna Zelcer, Mariana Silva, Bruno Michon, Lynette Bowes, Kent Stobart, Josee Brossard, Joseph Beyene, Lillian Sung
Paediatrics Publications
Background: Children with Down syndrome (DS) are at high risk of infectious toxicity when treated with acute lymphoblastic leukemia chemotherapy protocols optimized in children without DS. Our objective was to determine if children with DS and acute myeloid leukemia (AML) have a different risk of infection when treated with chemotherapy protocols developed for children with DS compared to AML treatment protocols developed for children without DS. Methods. We conducted a retrospective, population-based cohort study that included DS children ≤ 18 years of age with de novo, non-M3 AML diagnosed between January 1995 and December 2004, and treated at 15 Canadian …
Assessment Measures For Specific Language Impairment In Brazil: A Systematic Review, Alberto Filgueiras, Lisa M.D. Archibald, J. Landeira-Fernandez
Assessment Measures For Specific Language Impairment In Brazil: A Systematic Review, Alberto Filgueiras, Lisa M.D. Archibald, J. Landeira-Fernandez
Paediatrics Publications
Specific Language Impairment (SLI) is defined as an unexpected failure in linguistic abilities during a child's early years of development. Children with SLI do not present significant impairment in nonverbal intellectual outcomes and do not lack normal environmental exposure to language. Brazilian and worldwide researchers have sought to understand the cultural implications of SLI in the Brazilian Portuguese language. Standardized and validated measures must be used in empirical studies. The present study systematically reviewed the instruments used to assess linguistic abilities in quantitative SLI research in Brazil. Three databases were chosen: Medline, SciELO, and Google Scholar. From a total of …
Targeted Loss Of The Atr-X Syndrome Protein In The Limb Mesenchyme Of Mice Causes Brachydactyly, Lauren A. Solomon, Bailey A. Russell, L. Ashley Watson, Frank Beier, Nathalie G. Bérubé
Targeted Loss Of The Atr-X Syndrome Protein In The Limb Mesenchyme Of Mice Causes Brachydactyly, Lauren A. Solomon, Bailey A. Russell, L. Ashley Watson, Frank Beier, Nathalie G. Bérubé
Paediatrics Publications
ATR-X syndrome is a rare genetic disorder caused by mutations in the ATRX gene. Affected individuals are cognitively impaired and display a variety of developmental abnormalities, including skeletal deformities. To investigate the function of ATRX during skeletal development, we selectively deleted the gene in the developing forelimb mesenchyme of mice. The absence of ATRX in the limb mesenchyme resulted in shorter digits, or brachydactyly, a defect also observed in a subset of ATR-X patients. This phenotype persisted until adulthood, causing reduced grip strength and altered gait in mutant mice. Examination of the embryonic ATRX-null forelimbs revealed a significant increase in …
Role Of Interleukin-10 In Endochondral Bone Formation In Mice: Anabolic Effect Via The Bone Morphogenetic Protein/Smad Pathway, Youn Kwan Jung, Gun Woo Kim, Hye Ri Park, Eun Ju Lee, Je Yong Choi, Frank Beier, Seung Woo Han
Role Of Interleukin-10 In Endochondral Bone Formation In Mice: Anabolic Effect Via The Bone Morphogenetic Protein/Smad Pathway, Youn Kwan Jung, Gun Woo Kim, Hye Ri Park, Eun Ju Lee, Je Yong Choi, Frank Beier, Seung Woo Han
Paediatrics Publications
Objective: Interleukin-10 (IL-10) is a pleiotropic immunoregulatory cytokine with a chondroprotective effect that is elevated in cartilage and synovium in patients with osteoarthritis. However, the role of IL-10 during endochondral bone formation and its mechanism of action have not been elucidated. Methods: IL-10-/- mice and IL-10-treated tibial organ cultures were used to study loss and gain of IL-10 functions, respectively, during endochondral bone formation. Primary chondrocytes from the long bones of mouse embryos were cultured with and without IL-10. To assess the role of IL-10 in chondrogenic differentiation, we conducted mesenchymal cell micromass cultures. Results: The lengths of whole skeletons …
Erratum: Influence Of Health Information Levels On Postpartum Depression (Archives Of Women's Mental Health Doi: 10.1007/S00737-013-0368-5), Sabrina Youash, M. Karen Campbell, William Avison, Debbie Penava, Verinder Sharma, Bin Xie
Erratum: Influence Of Health Information Levels On Postpartum Depression (Archives Of Women's Mental Health Doi: 10.1007/S00737-013-0368-5), Sabrina Youash, M. Karen Campbell, William Avison, Debbie Penava, Verinder Sharma, Bin Xie
Paediatrics Publications
No abstract provided.
Arrangement Of Sympathetic Fibers Within The Human Common Peroneal Nerve: Implications For Microneurography, Rebecca P.R. Tompkins, C. W.J. Melling, Timothy D. Wilson, Brent D. Bates, J. Kevin Shoemaker
Arrangement Of Sympathetic Fibers Within The Human Common Peroneal Nerve: Implications For Microneurography, Rebecca P.R. Tompkins, C. W.J. Melling, Timothy D. Wilson, Brent D. Bates, J. Kevin Shoemaker
Paediatrics Publications
Recently, interest has grown in the firing patterns of individual or multiunit action potential firing patterns in human muscle sympathetic nerve recordings using microneurography. Little is known, however, about sympathetic fiber distribution in human lower limb nerves that will affect the multiunit recordings. Therefore, the purpose of this study was to examine the sympathetic fiber distribution within the human common peroneal nerve using immunohistochemical techniques (tyrosine hydroxylase, avidin-biotin complex technique). Five-micrometer transverse and 10-μm longitudinal sections, fixed in formaldehyde, were obtained from the peroneal nerve that had been harvested from three human cadavers (83 ± 11 yr) within 24 h …
An Investigation Of Changes In Regional Gray Matter Volume In Cardiovascular Disease Patients, Pre And Post Cardiovascular Rehabilitation, U. C. Anazodo, J. K. Shoemaker, N. Suskin, K. S. St. Lawrence
An Investigation Of Changes In Regional Gray Matter Volume In Cardiovascular Disease Patients, Pre And Post Cardiovascular Rehabilitation, U. C. Anazodo, J. K. Shoemaker, N. Suskin, K. S. St. Lawrence
Paediatrics Publications
Cognitive function decline secondary to cardiovascular disease has been reported. However, little is known about the impact of coronary artery disease (CAD) on the aging brain macrostructure or whether exercise training, in the context of cardiovascular rehabilitation, can affect brain structure following a coronary event. This study employed voxel-based morphometry of high resolution structural MRI images to investigate; 1) changes in regional gray matter volume (GMV) in CAD patients compared to age-matched controls, and 2) the effects of a six-month exercise-based cardiovascular rehabilitation program on CAD-related GMV decline. Compared to controls, significant decreases in regional GMV were found in the …
Trajectories Of Health-Related Quality Of Life In Children With Epilepsy: A Cohort Study, Mark A. Ferro, Carol S. Camfield, Simon D. Levin, Mary Lou Smith, Samuel Wiebe, Guangyong Zou, Kathy N. Speechley
Trajectories Of Health-Related Quality Of Life In Children With Epilepsy: A Cohort Study, Mark A. Ferro, Carol S. Camfield, Simon D. Levin, Mary Lou Smith, Samuel Wiebe, Guangyong Zou, Kathy N. Speechley
Paediatrics Publications
Purpose Little is known about subgroups of children with epilepsy who may experience less favorable outcomes over time. The objectives of this study were to document trajectories of health-related quality of life (HRQL) and to identify predictors of the trajectory group in children with new-onset epilepsy. Methods Data were obtained from the Health Related Quality of Life in Children with Epilepsy Study, a prospective multisite study of children 4-12 years old with new-onset epilepsy followed for 24 months. Health-related quality of life was measured using the Quality of Life in Childhood Epilepsy questionnaire. Trajectories of HRQL were investigated using latent …
Cognitive Vulnerability To Depression During Middle Childhood: Stability And Associations With Maternal Affective Styles And Parental Depression, Elizabeth P. Hayden, Thomas M. Olino, Sarah V.M. Mackrell, Patricia L. Jordan, Jasmine Desjardins, Patrice Katsiroumbas
Cognitive Vulnerability To Depression During Middle Childhood: Stability And Associations With Maternal Affective Styles And Parental Depression, Elizabeth P. Hayden, Thomas M. Olino, Sarah V.M. Mackrell, Patricia L. Jordan, Jasmine Desjardins, Patrice Katsiroumbas
Paediatrics Publications
Theories of cognitive vulnerability to depression (CVD) imply that CVD is early-emerging and trait-like; however, little longitudinal work has tested this premise in middle childhood, or examined theoretically relevant predictors of child CVD. We examined test-retest correlations of self-referent encoding task performance and self-reported attributional styles and their associations with parental characteristics in 205 seven-year-olds. At baseline, child CVD was assessed, structured clinical interviews were conducted with parents, and ratings of observed maternal affective styles were made. Children's CVD was re-assessed approximately one and two years later. Both measures of children's CVD were prospectively and concurrently associated with children's depressive …
Erratum: Cyp3a4 And Seasonal Variation In Vitamin D Status In Addition To Cyp2d6 Contribute To Therapeutic Endoxifen Level During Tamoxifen Therapy (Breast Cancer Research And Treatment (2013) 139 (95-105) Doi 10.1007/S10549-013-2511-4), Wendy A. Teft, Inna Y. Gong, Brian Dingle, Kylea Potvin, Jawaid Younus, Theodore A. Vandenberg, Muriel Brackstone, Francisco E. Perera, Yun Hee Choi, Guangyong Zou, Robin M. Legan, Rommel G. Tirona, Richard B. Kim
Erratum: Cyp3a4 And Seasonal Variation In Vitamin D Status In Addition To Cyp2d6 Contribute To Therapeutic Endoxifen Level During Tamoxifen Therapy (Breast Cancer Research And Treatment (2013) 139 (95-105) Doi 10.1007/S10549-013-2511-4), Wendy A. Teft, Inna Y. Gong, Brian Dingle, Kylea Potvin, Jawaid Younus, Theodore A. Vandenberg, Muriel Brackstone, Francisco E. Perera, Yun Hee Choi, Guangyong Zou, Robin M. Legan, Rommel G. Tirona, Richard B. Kim
Paediatrics Publications
No abstract provided.
The Centre Of The Brain: Topographical Model Of Motor, Cognitive, Affective, And Somatosensory Functions Of The Basal Ganglia, Marie Arsalidou, Emma G. Duerden, Margot J. Taylor
The Centre Of The Brain: Topographical Model Of Motor, Cognitive, Affective, And Somatosensory Functions Of The Basal Ganglia, Marie Arsalidou, Emma G. Duerden, Margot J. Taylor
Paediatrics Publications
The basal ganglia have traditionally been viewed as motor processing nuclei; however, functional neuroimaging evidence has implicated these structures in more complex cognitive and affective processes that are fundamental for a range of human activities. Using quantitative meta-analysis methods we assessed the functional subdivisions of basal ganglia nuclei in relation to motor (body and eye movements), cognitive (working-memory and executive), affective (emotion and reward) and somatosensory functions in healthy participants. We document affective processes in the anterior parts of the caudate head with the most overlap within the left hemisphere. Cognitive processes showed the most widespread response, whereas motor processes …
Techniques For The Isolation Of High-Quality Rna From Cells Encapsulated In Chitosan Hydrogels, Claire Yu, Stuart Young, Valerio Russo, Brian G. Amsden, Lauren E. Flynn
Techniques For The Isolation Of High-Quality Rna From Cells Encapsulated In Chitosan Hydrogels, Claire Yu, Stuart Young, Valerio Russo, Brian G. Amsden, Lauren E. Flynn
Paediatrics Publications
Extracting high-quality RNA from hydrogels containing polysaccharide components is challenging, as traditional RNA isolation techniques designed for cells and tissues can have limited yields and purity due to physiochemical interactions between the nucleic acids and the biomaterials. In this study, a comparative analysis of several different RNA isolation methods was performed on human adipose-derived stem cells photo-encapsulated within methacrylated glycol chitosan hydrogels. The results demonstrated that RNA isolation methods with cetyl trimethylammonium bromide (CTAB) buffer followed by purification with an RNeasy® mini kit resulted in low yields of RNA, except when the samples were preminced directly within the buffer. In …
Cognitive Intraindividual Variability And White Matter Integrity In Aging, Nathalie Mella, Sandrine De Ribaupierre, Roy Eagleson, Anik De Ribaupierre
Cognitive Intraindividual Variability And White Matter Integrity In Aging, Nathalie Mella, Sandrine De Ribaupierre, Roy Eagleson, Anik De Ribaupierre
Paediatrics Publications
The intraindividual variability (IIV) of cognitive performance has been shown to increase with aging. While brain research has generally focused on mean performance, little is known about neural correlates of cognitive IIV. Nevertheless, some studies suggest that IIV relates more strongly than mean level of performance to the quality of white matter (WM). Our study aims to explore the relation between WM integrity and cognitive IIV by combining functional (fMRI) and structural (diffusion tensor imaging, DTI) imaging. Twelve young adults (aged 18-30 years) and thirteen older adults (61-82 years) underwent a battery of neuropsychological tasks, along with fMRI and DTI …
Reducing Risk With E-Based Support For Adherence To Lifestyle Change In Hypertension (Reach): Protocol For A Multicentred Randomised Controlled Trial, Robert P. Nolan, Sam Liu, Ross Feldman, Martin Dawes, Susan Barr, Hazel Lynn, Femida Gwardy-Sridhar, Scott G. Thomas, Jack Goodman, Paul Oh, Janusz Kaczorowski, Caroline Chessex, Vladimir Hachinski, Kevin Shoemaker
Reducing Risk With E-Based Support For Adherence To Lifestyle Change In Hypertension (Reach): Protocol For A Multicentred Randomised Controlled Trial, Robert P. Nolan, Sam Liu, Ross Feldman, Martin Dawes, Susan Barr, Hazel Lynn, Femida Gwardy-Sridhar, Scott G. Thomas, Jack Goodman, Paul Oh, Janusz Kaczorowski, Caroline Chessex, Vladimir Hachinski, Kevin Shoemaker
Paediatrics Publications
Introduction: Web-based lifestyle counselling designed to improve adherence to self-management behaviours for diet, exercise and medication has been shown to reduce blood pressure (BP). However, the long-term clinical outcome of these interventions is not established. Our aim was to establish whether an e-counselling program is independently associated with improved clinical outcomes over a 12-month period, as defined by the following criteria: (1) reduction of systolic BP, diastolic BP, pulse pressure and associated risk factors for cardiovascular events; and (2) adherence to self-management behaviour (diet, exercise, smoke-free living and prescribed medication). Methods and analysis: Reducing risk with e-based support for adherence …
Structure Of Observed Temperament In Middle Childhood, Yuliya Kotelnikova, Thomas M. Olino, Sarah V.M. Mackrell, Patricia L. Jordan, Elizabeth P. Hayden
Structure Of Observed Temperament In Middle Childhood, Yuliya Kotelnikova, Thomas M. Olino, Sarah V.M. Mackrell, Patricia L. Jordan, Elizabeth P. Hayden
Paediatrics Publications
Although much is known about the structure of adult temperament and personality, significantly less is known about the structure of child temperament. We examined the structure of child temperament in 205 seven-year-olds using observational measures. Exploratory factor analysis identified factors representing positive emotionality/sociability, disinhibition/anger, fear/behavioral inhibition, and sadness. The predictive validity of these dimensions was evaluated by examining their associations with children's internalizing and externalizing symptoms: positive emotionality/sociability showed positive associations with ADHD symptoms, disinhibition/anger showed positive associations with externalizing symptoms, fear/behavioral inhibition showed negative associations with ADHD and CD symptoms, and sadness showed positive associations with both internalizing and …
Gsk-3Β Function In Bone Regulates Skeletal Development, Whole-Body Metabolism, And Male Life Span, J. R. Gillespie, J. R. Bush, G. I. Bell, L. A. Aubrey, H. Dupuis, F. Ferron, B. Kream, G. Dimattia, S. Patel, J. R. Woodgett, G. Karsenty, D. A. Hess, F. Beier
Gsk-3Β Function In Bone Regulates Skeletal Development, Whole-Body Metabolism, And Male Life Span, J. R. Gillespie, J. R. Bush, G. I. Bell, L. A. Aubrey, H. Dupuis, F. Ferron, B. Kream, G. Dimattia, S. Patel, J. R. Woodgett, G. Karsenty, D. A. Hess, F. Beier
Paediatrics Publications
Glycogen synthase kinase 3 β (GSK-3β) is an essential negative regulator or “brake” on many anabolic-signaling pathways including Wnt and insulin. Global deletion of GSK-3β results in perinatal lethality and various skeletal defects. The goal of our research was to determine GSK-3β cell-autonomous effects and postnatal roles in the skeleton. We used the 3.6-kb Col1a1 promoter to inactivate the Gsk3b gene (Col1a1-Gsk3b knockout) in skeletal cells. Mutant mice exhibit decreased body fat and postnatal bone growth, as well as delayed development of several skeletal elements. Surprisingly, the mutant mice display decreased circulating glucose and insulin levels despite normal expression of …
Intra-Thoracic Fat Volume Is Associated With Myocardial Infarction In Patients With Metabolic Syndrome, Umjeet S. Jolly, Abraam Soliman, Charles Mckenzie, Terry Peters, John Stirrat, Immaculate Nevis, Matthew Brymer, Tisha Joy
Intra-Thoracic Fat Volume Is Associated With Myocardial Infarction In Patients With Metabolic Syndrome, Umjeet S. Jolly, Abraam Soliman, Charles Mckenzie, Terry Peters, John Stirrat, Immaculate Nevis, Matthew Brymer, Tisha Joy
Paediatrics Publications
Background: Visceral adiposity is increased in those with Metabolic Syndrome (MetS) and atherosclerotic disease burden. In this study we evaluate for associations between intra-thoracic fat volume (ITFV) and myocardial infarction (MI) in patients with MetS. Methods. Ninety-four patients with MetS, MI or both were identified from a cardiovascular CMR clinical registry. MetS was defined in accordance to published guidelines; where-as MI was defined as the presence of subendocardial-based injury on late gadolinium enhancement imaging in a coronary vascular distribution. A healthy control group was also obtained from the same registry. Patients were selected into the following groups: MetS+/MI- (N = …
The Cndr: Collaborating To Translate New Therapies For Canadians, Lawrence Korngut, Craig Campbell, Megan Johnston, Timothy Benstead, Angela Genge, Alex Mackenzie, Anna Mccormick, Douglas Biggar
The Cndr: Collaborating To Translate New Therapies For Canadians, Lawrence Korngut, Craig Campbell, Megan Johnston, Timothy Benstead, Angela Genge, Alex Mackenzie, Anna Mccormick, Douglas Biggar
Paediatrics Publications
Background: Patient registries represent an important method of organizing "real world" patient information for clinical and research purposes. Registries can facilitate clinical trial planning and recruitment and are particularly useful in this regard for uncommon and rare diseases. Neuromuscular diseases (NMDs) are individually rare but in aggregate have a significant prevalence. In Canada, information on NMDs is lacking. Barriers to performing Canadian multicentre NMD research exist which can be overcome by a comprehensive and collaborative NMD registry. Methods: We describe the objectives, design, feasibility and initial recruitment results for the Canadian Neuromuscular Disease Registry (CNDR). Results: The CNDR is a …
Clinical Performance Of Bleeding Risk Scores For Predicting Major And Clinically Relevant Non-Major Bleeding Events In Patients Receiving Warfarin, S. Burgess, N. Crown, M. L. Louzada, G. Dresser, R. B. Kim, A. Lazo-Langner
Clinical Performance Of Bleeding Risk Scores For Predicting Major And Clinically Relevant Non-Major Bleeding Events In Patients Receiving Warfarin, S. Burgess, N. Crown, M. L. Louzada, G. Dresser, R. B. Kim, A. Lazo-Langner
Paediatrics Publications
Background: Oral anticoagulant therapy is associated with an increased risk of hemorrhage, which can be assessed by bleeding risk scores. We evaluated the performance of five validated scores for predicting major and clinically relevant non-major bleeding events in patients receiving warfarin. Methods and results: We conducted an ambispective, single-center cohort study of 321 consecutive patients enrolled in an academic anticoagulation clinic. The following scores were calculated: modified Outpatient Bleeding Risk Index, Contemporary Bleeding Risk Model, HEMORR2HAGES (Hepatic or Renal Disease, Ethanol Abuse, Malignancy, Older Age, Reduced Platelet Count or Function, Re-Bleeding, Hypertension, Anemia, Genetic Factors, Excessive Fall Risk and Stroke), …
Development Of Uv/Hplc Methods For Quantitative Analysis Of Benznidazole In Human Plasma And Urine For Application In Pediatric Clinical Studies, María Elena Marsón, Diego Dante Dana, Jaime Altcheh, Facundo García-Bournissen, Guido Mastrantonio
Development Of Uv/Hplc Methods For Quantitative Analysis Of Benznidazole In Human Plasma And Urine For Application In Pediatric Clinical Studies, María Elena Marsón, Diego Dante Dana, Jaime Altcheh, Facundo García-Bournissen, Guido Mastrantonio
Paediatrics Publications
Objective: Chagas disease constitutes a major public health problem in Latin America. Correctly designed pharmacokinetic, safety, and bioequivalence studies are desirable in order to fill the knowledge gaps that presently exist on available drugs. It is necessary to develop accurate, simple, reproducible, and sensitive high-performance liquid chromatography (HPLC)/UV methods for the quantization of benznidazole (BNZ) in human plasma and urine for clinical applications, specially in pediatric patients. Methods: Quantization of BNZ in human plasma involved freeze-drying and re-suspension in organic solvent followed by reverse phase HPLC with UV detection. Analysis of BNZ in urine involved liquid/liquid extraction followed by reverse …
Short Report: A Five-Year-Old Child With Renal Hydatidosis, Guillermo Moscatelli, Samanta Moroni, Héctor Freilij, Fabián Salgueiro, Facundo García Bournissen, Jaime Altcheh
Short Report: A Five-Year-Old Child With Renal Hydatidosis, Guillermo Moscatelli, Samanta Moroni, Héctor Freilij, Fabián Salgueiro, Facundo García Bournissen, Jaime Altcheh
Paediatrics Publications
Hydatidosis is a zoonosis of worldwide distribution caused by the parasite Echinococcus granulosus. Clinical manifestations include cyst formation, most commonly in the liver (67-89%) and lungs (10-15%). Renal localizations are rare. We report a case of renal hydatidosis in a five-year-old child treated in a tertiary pediatric hospital in Argentina. After the diagnosis was made, elective surgery was performed, which led to a rapid recovery. Copyright © 2013 by The American Society of Tropical Medicine and Hygiene.
Benznidazole Treatment Of Chagasic Encephalitis In Pregnant Woman With Aids, Margarita Bisio, Jaime Altcheh, Jorge Lattner, Guillermo Moscatelli, Valeria Fink, Juan M. Burgos, Facundo García Bournissen, Alejandro G. Schijman, Héctor Freilij
Benznidazole Treatment Of Chagasic Encephalitis In Pregnant Woman With Aids, Margarita Bisio, Jaime Altcheh, Jorge Lattner, Guillermo Moscatelli, Valeria Fink, Juan M. Burgos, Facundo García Bournissen, Alejandro G. Schijman, Héctor Freilij
Paediatrics Publications
We report a case of chagasic meningoencephalitis reactivation in a pregnant woman co-infected with Trypanosoma cruzi and HIV that was successfully managed with benznidazole and highly active antiretroviral therapy. Early diagnosis enabled rapid specific treatment that improved the health of the patient and her baby.
Impact Of Migration On The Occurrence Of New Cases Of Chagas Disease In Buenos Aires City, Argentina, Guillermo Moscatelli, Facundo García Bournissen, Héctor Freilij, Ada Berenstein, Ana Tarlovsky, Samanta Moroni, Griselda Ballering, Miguel Biancardi, Susana Siniawski, Marta Schwarcz, Susana Hernández, Andrés Espejo Cozzi, Jaime Altcheh
Impact Of Migration On The Occurrence Of New Cases Of Chagas Disease In Buenos Aires City, Argentina, Guillermo Moscatelli, Facundo García Bournissen, Héctor Freilij, Ada Berenstein, Ana Tarlovsky, Samanta Moroni, Griselda Ballering, Miguel Biancardi, Susana Siniawski, Marta Schwarcz, Susana Hernández, Andrés Espejo Cozzi, Jaime Altcheh
Paediatrics Publications
No abstract provided.
A Mutation In The Serine Protease Tmprss4 In A Novel Pediatric Neurodegenerative Disorder, Piya Lahiry, Lemuel Racacho, Jian Wang, John F. Robinson, Gregory B. Gloor, C. Anthony Rupar, Victoria M. Siu, Dennis E. Bulman, Robert A. Hegele
A Mutation In The Serine Protease Tmprss4 In A Novel Pediatric Neurodegenerative Disorder, Piya Lahiry, Lemuel Racacho, Jian Wang, John F. Robinson, Gregory B. Gloor, C. Anthony Rupar, Victoria M. Siu, Dennis E. Bulman, Robert A. Hegele
Paediatrics Publications
Background: To elucidate the genetic basis of a novel neurodegenerative disorder in an Old Order Amish pedigree by combining homozygosity mapping with exome sequencing. Methods and results. We identified four individuals with an autosomal recessive condition affecting the central nervous system (CNS). Neuroimaging studies identified progressive global CNS tissue loss presenting early in life, associated with microcephaly, seizures, and psychomotor retardation; based on this, we named the condition Autosomal Recessive Cerebral Atrophy (ARCA). Using two unbiased genetic approaches, homozygosity mapping and exome sequencing, we narrowed the candidate region to chromosome 11q and identified the c.995C > T (p.Thr332Met) mutation in the …
Magnetic Resonance Imaging Findings And Neurodevelopmental Outcomes In Neonates With Urea-Cycle Defects, Anna Catherine Gunz, Karen Choong, Murray Potter, Elka Miller
Magnetic Resonance Imaging Findings And Neurodevelopmental Outcomes In Neonates With Urea-Cycle Defects, Anna Catherine Gunz, Karen Choong, Murray Potter, Elka Miller
Paediatrics Publications
The urea-cycle functions to facilitate ammonia excretion, a disruption of which results in the accumulation of toxic metabolites. The neurological outcome of neonatal-onset urea-cycle defects (UCDs) is poor, and there are no good predictors of prognosis beyond ammonia levels at presentation. The role of neuroimaging in the prognosis of neonatal-onset UCDs is unclear. We describe the magnetic resonance imaging (MRI) findings of two patients with neonatal-onset UCDs (argininosuccinic aciduria and citrullinemia) at presentation and at 2-year follow-up, and present a review of the literature on neuroimaging in this age-group. We observed two potentially significant distinct patterns of cerebral involvement on …
Nerve Growth Factor Receptor Trka, A New Receptor In Insulin Signaling Pathway In Pc12 Cells, Thangiah Geetha, Shraddha D. Rege, Salome E. Mathews, Susan O. Meakin, Morris F. White, Jeganathan Ramesh Babu
Nerve Growth Factor Receptor Trka, A New Receptor In Insulin Signaling Pathway In Pc12 Cells, Thangiah Geetha, Shraddha D. Rege, Salome E. Mathews, Susan O. Meakin, Morris F. White, Jeganathan Ramesh Babu
Paediatrics Publications
Background: TrkA is a transmembrane receptor tyrosine kinase for nerve growth factor. Results: TrkA forms a molecular complex with insulin receptor and IRS-1 to induce Akt and Erk5 phosphorylation. Conclusion: The NGF-TrkA receptor influences insulin signaling. Significance: The TrkA receptor is involved in insulin signaling, and NGF may regulate neuronal glucose uptake as neurons are insulin-insensitive. © 2013 by The American Society for Biochemistry and Molecular Biology, Inc.
Mutation Of The Lxcxe Binding Cleft Of Prb Facilitates Transformation By Ras In Vitro But Does Not Promote Tumorigenesis In Vivo, Srikanth Talluri, Sarah M. Francis, Frederick A. Dick
Mutation Of The Lxcxe Binding Cleft Of Prb Facilitates Transformation By Ras In Vitro But Does Not Promote Tumorigenesis In Vivo, Srikanth Talluri, Sarah M. Francis, Frederick A. Dick
Paediatrics Publications
Background:The Retinoblastoma protein (pRB) is a key tumor suppressor that is functionally inactivated in most cancers. pRB regulates the cell division cycle and cell cycle exit through protein-protein interactions mediated by its multiple binding interfaces. The LXCXE binding cleft region of pRB mediates interactions with cellular proteins that have chromatin regulatory functions. Chromatin regulation mediated by pRB is required for a stress responsive cell cycle arrest, including oncogene induced senescence. The in vivo role of chromatin regulation by pRB during senescence, and its relevance to cancer is not clear.Methodology/Principal Findings:Using gene-targeted mice, uniquely defective for pRB mediated chromatin regulation, we …
The Serotonin Transporter Linked Polymorphic Region And Brain-Derived Neurotrophic Factor Valine To Methionine At Position 66 Polymorphisms And Maternal History Of Depression: Associations With Cognitive Vulnerability To Depression In Childhood, Elizabeth P. Hayden, Thomas M. Olino, Sara J. Bufferd, Anna Miller, Lea R. Dougherty, Haroon I. Sheikh, Shiva M. Singh, Daniel N. Klein, Szatmari, Elizabeth Kelley, Xudong Liu, Stelios Georgiades, Rob Nicolson, Russell Schachar, Jennifer Crosbie, Evdokia Anagnostou, Jason P. Lerch, Paul D. Arnold, Stephanie H. Ameis
The Serotonin Transporter Linked Polymorphic Region And Brain-Derived Neurotrophic Factor Valine To Methionine At Position 66 Polymorphisms And Maternal History Of Depression: Associations With Cognitive Vulnerability To Depression In Childhood, Elizabeth P. Hayden, Thomas M. Olino, Sara J. Bufferd, Anna Miller, Lea R. Dougherty, Haroon I. Sheikh, Shiva M. Singh, Daniel N. Klein, Szatmari, Elizabeth Kelley, Xudong Liu, Stelios Georgiades, Rob Nicolson, Russell Schachar, Jennifer Crosbie, Evdokia Anagnostou, Jason P. Lerch, Paul D. Arnold, Stephanie H. Ameis
Paediatrics Publications
Preliminary work indicates that cognitive vulnerability to depression may be associated with variants of the serotonin transporter promoter polymorphism (5-HTTLPR) and the valine to methionine at position 66 (val66met) polymorphism of the brain-derived neurotrophic factor (BDNF) gene; however, existing reports come from small samples. The present study sought to replicate and extend this research in a sample of 375 community-dwelling children and their parents. Following a negative mood induction, children completed a self-referent encoding task tapping memory for positive and negative self-descriptive traits. Consistent with previous work, we found that children with at least one short variant of the 5-HTTLPR …
Clinical And Pharmacogenetic Predictors Of Circulating Atorvastatin And Rosuvastatin Concentrations In Routine Clinical Care, Marianne K. Degorter, Rommel G. Tirona, Ute I. Schwarz, Yun Hee Choi, George K. Dresser, Neville Suskin, Kathryn Myers, Guang Yong Zou, Otito Iwuchukwu, Wei Qi Wei, Russell A. Wilke, Robert A. Hegele, Richard B. Kim
Clinical And Pharmacogenetic Predictors Of Circulating Atorvastatin And Rosuvastatin Concentrations In Routine Clinical Care, Marianne K. Degorter, Rommel G. Tirona, Ute I. Schwarz, Yun Hee Choi, George K. Dresser, Neville Suskin, Kathryn Myers, Guang Yong Zou, Otito Iwuchukwu, Wei Qi Wei, Russell A. Wilke, Robert A. Hegele, Richard B. Kim
Paediatrics Publications
Background-A barrier to statin therapy is myopathy associated with elevated systemic drug exposure. Our objective was to examine the association between clinical and pharmacogenetic variables and statin concentrations in patients. Methods and Results-In total, 299 patients taking atorvastatin or rosuvastatin were prospectively recruited at an outpatient referral center. The contribution of clinical variables and transporter gene polymorphisms to statin concentration was assessed using multiple linear regression. We observed 45-fold variation in statin concentration among patients taking the same dose. After adjustment for sex, age, body mass index, ethnicity, dose, and time from last dose, SLCO1B1 c.521T>C (P<0.001) and ABCG2 c.421C>A (P …