17 results on '"Quintana, Rodrigo Gutierrez"'
Search Results
2. SKilletonVR: Canine Skeleton VR (Oculus Quest)
- Author
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Horne, Hannah, Poyade, Matthieu, Rea, Paul M., Guevar, Julien, Cohen, Eli, Quintana, Rodrigo Gutierrez, and Rea, Paul M., Series Editor
- Published
- 2022
- Full Text
- View/download PDF
3. A TNR Frameshift Variant in Weimaraner Dogs with an Exercise-Induced Paroxysmal Movement Disorder:TNR variant in dogs with a movement disorder
- Author
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Christen, Matthias, Quintana, Rodrigo Gutierrez, Green, Matthew, Faller, Kiterie M E, Lowrie, Mark, Rusbridge, Clare, Bossens, Kenny, Mellersh, Cathryn, Pettitt, Louise, Heinonen, Tiina, Lohi, Hannes, Jagannathan, Vidhya, and Leeb, Tosso
- Subjects
episodic ataxia ,precision medicine ,canine ,dystonia ,extracellular brain matrix ,neurogenetics - Abstract
BACKGROUND: Some paroxysmal movement disorders remain without an identified genetic cause.OBJECTIVES: The aim was to identify the causal genetic variant for a paroxysmal dystonia-ataxia syndrome in Weimaraner dogs.METHODS: Clinical and diagnostic investigations were performed. Whole genome sequencing of one affected dog was used to identify private homozygous variants against 921 control genomes.RESULTS: Four Weimaraners were presented for episodes of abnormal gait. Results of examinations and diagnostic investigations were unremarkable. Whole genome sequencing revealed a private frameshift variant in the TNR (tenascin-R) gene in an affected dog, XM_038542431.1:c.831dupC, which is predicted to truncate more than 75% of the open read frame. Genotypes in a cohort of 4 affected and 70 unaffected Weimaraners showed perfect association with the disease phenotype.CONCLUSIONS: We report the association of a TNR variant with a paroxysmal dystonia-ataxia syndrome in Weimaraners. It might be relevant to include sequencing of this gene in diagnosing humans with unexplained paroxysmal movement disorders. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
- Published
- 2023
4. ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency
- Author
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Christen, Matthias, Bongers, Jos, Mathis, Déborah, Jagannathan, Vidya, Quintana, Rodrigo Gutierrez, and Leeb, Tosso
- Subjects
570 Life sciences ,biology ,590 Animals (Zoology) ,610 Medicine & health - Abstract
A 3-year-old, male neutered Cavalier King Charles Spaniel (CKCS) presented with complex focal seizures and prolonged lethargy. The aim of the study was to investigate the clinical signs, metabolic changes and underlying genetic defect. Blood and urine organic acid analysis revealed increased medium-chain fatty acids and together with the clinical findings suggested a diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. We sequenced the genome of the affected dog and compared the data to 923 control genomes of different dog breeds. The ACADM gene encoding MCAD was considered the top functional candidate gene. The genetic analysis revealed a single homozygous private protein-changing variant in ACADM in the affected dog. This variant, XM_038541645.1:c.444_445delinsGTTAATTCTCAATATTGTCTAAGAATTATG, introduces a premature stop codon and is predicted to result in truncation of ~63% of the wild type MCAD open reading frame, XP_038397573.1:p.(Thr150Ilefs*6). Targeted genotyping of the variant in 162 additional CKCS revealed a variant allele frequency of 23.5% and twelve additional homozygous mutant dogs. The acylcarnitine C8/C12 ratio was elevated ~43.3 fold in homozygous mutant dogs as compared to homozygous wild type dogs. Based on available clinical and biochemical data together with current knowledge in humans, we propose the ACADM frameshift variant as causative variant for the MCAD deficiency with likely contribution to the neurological phenotype in the index case. Testing the CKCS breeding population for the identified ACADM variant is recommended to prevent the unintentional breeding of dogs with MCAD deficiency. Further prospective studies are warranted to assess the clinical consequences of this enzyme defect.
- Published
- 2022
- Full Text
- View/download PDF
5. Movement disorder in young weimaraners
- Author
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Faller, Kiterie M. E. and Quintana, Rodrigo Gutierrez
- Published
- 2016
- Full Text
- View/download PDF
6. Risk factors associated with short‐term mortality and recurrence of status epilepticus in dogs.
- Author
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Fentem, Rory, de Stefani, Alberta, Quintana, Rodrigo Gutierrez, Alcoverro, Emili, Jones, Gareth Michael Couper, Amengual‐Batle, Pablo, and Gonçalves, Rita
- Subjects
STATUS epilepticus ,DOGS ,LOGISTIC regression analysis ,DOG owners ,MORTALITY risk factors - Abstract
Background: Status epilepticus (SE) is an emergency associated with serious consequences for both patient and owner. Data regarding risk factors for short‐term mortality or recurrence in dogs with SE is limited. Objective: Identify risk factors associated with short‐term mortality (euthanasia or spontaneous death) and recurrence of SE in dogs. Animals: One hundred twenty‐four client‐owned dogs that sustained an episode of SE. Methods: Retrospective multicenter study using data collected from medical records of dogs presented in SE to the contributing institutions. Multivariable logistic regression analysis was performed using a manual backwards stepwise approach to identify risk factors associated with short‐term mortality and recurrence of SE after discharge. Results: Short‐term mortality for affected dogs was 29.8%. Factors significantly associated with short‐term mortality included increased patient age, shorter duration of hospitalization, development of SE before arrival, and SE caused by a potentially fatal etiology. Status epilepticus recurred in 27% of dogs that survived to discharge. Factors significantly associated with recurrence of SE included prior history of pharmacoresistant epilepsy and predominance of a focal seizure phenotype. Conclusions and Clinical Importance: Our results may be used to inform clinicians and dog owners regarding risk factors for both short‐term mortality and recurrence in dogs with SE. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
7. Peri‐ictal magnetic resonance imaging characteristics in dogs with suspected idiopathic epilepsy.
- Author
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Nagendran, Aran, McConnell, James Fraser, De Risio, Luisa, José‐López, Roberto, Quintana, Rodrigo Gutierrez, Robinson, Kelsey, Platt, Simon R., Masian, Daniel Sanchez, Maddox, Thomas, and Gonçalves, Rita
- Subjects
MAGNETIC resonance imaging ,HYPERPERFUSION ,FICK'S laws of diffusion ,GRAY matter (Nerve tissue) ,WHITE matter (Nerve tissue) ,THALAMIC nuclei ,DOGS - Abstract
Background: The pathophysiology of changes in magnetic resonance imaging (MRI) detected after a seizure is not fully understood. Objective: To characterize and describe seizure‐induced changes detected by MRI. Animals Eighty‐one client‐owned dogs diagnosed with idiopathic epilepsy. Methods: Data collected retrospectively from medical records and included anatomical areas affected, T1‐, T2‐weighted and T2‐FLAIR (fluid‐attenuated inversion recovery) appearance, whether changes were unilateral or bilateral, symmetry, contrast enhancement, mass effect, and, gray and white matter distribution. Diffusion‐ and perfusion weighted maps were evaluated, if available. Results: Seizure‐induced changes were T2‐hyperintense with no suppression of signal on FLAIR. Lesions were T1‐isointense (55/81) or hypointense (26/81), local mass effect (23/81) and contrast enhancement (12/81). The majority of changes were bilateral (71/81) and symmetrical (69/71). The most common areas affected were the hippocampus (39/81) cingulate gyrus (33/81), hippocampus and piriform lobes (32/81). Distribution analysis suggested concurrence between cingulate gyrus and pulvinar thalamic nuclei, the cingulate gyrus and parahippocampal gyrus, hippocampus and piriform lobe, and, hippocampus and parahippocampal gyrus. Diffusion (DWI) characteristics were a mixed‐pattern of restricted, facilitated, and normal diffusion. Perfusion (PWI) showed either hypoperfusion (6/9) or hyperperfusion (3/9). Conclusions and Clinical Importance: More areas, than previously reported, have been identified that could incur seizure‐induced changes. Similar to human literature, DWI and PWI changes have been identified that could reflect the underlying metabolic and vascular changes. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
8. 1309: Reducing inflammatory and cognitive effects of irradiation in healthy brain using PARP inhibitors.
- Author
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Forster, Duncan M., Fletcher, Jennifer, Jackson, Mark, Quintana, Rodrigo Gutierrez, Williams, Karin, Chalmers, Anthony, and Williams, Kaye
- Subjects
- *
POLY(ADP-ribose) polymerase , *IRRADIATION - Published
- 2024
- Full Text
- View/download PDF
9. An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed.
- Author
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Forman, Oliver P., Hitti, Rebekkah J., Pettitt, Louise, Jenkins, Christopher A., Mellersh, Cathryn, O'Brien, Dennis P., Shelton, G. Diane, De Risio, Luisa, Quintana, Rodrigo Gutierrez, and Beltran, Elsa
- Subjects
- *
DOG breeds , *BORDER collie , *NUCLEOTIDE sequencing , *DISEASES - Abstract
Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age. Using a genome-wide association study approach with three cases and 170 breed matched controls, a suggestive locus for sensory neuropathy was identified that was followed up using a genome sequencing approach. An inversion disrupting the candidate gene FAM134B was identified. Genotyping of additional cases and controls and RNAseq analysis provided strong evidence that the inversion is causal. Evidence of cryptic splicing resulting in novel exon transcription for FAM134B was identified by RNAseq experiments. This investigation demonstrates the identification of a novel sensory neuropathy associated mutation, by mapping using a minimal set of cases and subsequent genome sequencing. Through mutation screening, it should be possible to reduce the frequency of or completely eliminate this debilitating condition from the Border Collie breed population. [ABSTRACT FROM AUTHOR]
- Published
- 2016
- Full Text
- View/download PDF
10. ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
- Author
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Christen M, Bongers J, Mathis D, Jagannathan V, Quintana RG, and Leeb T
- Subjects
- Dogs, Male, Humans, Animals, Child, Preschool, Acyl-CoA Dehydrogenase genetics, Fatty Acids, Codon, Nonsense, Lipid Metabolism, Inborn Errors genetics, Lipid Metabolism, Inborn Errors veterinary
- Abstract
A 3-year-old, male neutered Cavalier King Charles Spaniel (CKCS) presented with complex focal seizures and prolonged lethargy. The aim of the study was to investigate the clinical signs, metabolic changes and underlying genetic defect. Blood and urine organic acid analysis revealed increased medium-chain fatty acids and together with the clinical findings suggested a diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. We sequenced the genome of the affected dog and compared the data to 923 control genomes of different dog breeds. The ACADM gene encoding MCAD was considered the top functional candidate gene. The genetic analysis revealed a single homozygous private protein-changing variant in ACADM in the affected dog. This variant, XM_038541645.1:c.444_445delinsGTTAATTCTCAATATTGTCTAAGAATTATG, introduces a premature stop codon and is predicted to result in truncation of ~63% of the wild type MCAD open reading frame, XP_038397573.1:p.(Thr150Ilefs*6). Targeted genotyping of the variant in 162 additional CKCS revealed a variant allele frequency of 23.5% and twelve additional homozygous mutant dogs. The acylcarnitine C8/C12 ratio was elevated ~43.3 fold in homozygous mutant dogs as compared to homozygous wild type dogs. Based on available clinical and biochemical data together with current knowledge in humans, we propose the ACADM frameshift variant as causative variant for the MCAD deficiency with likely contribution to the neurological phenotype in the index case. Testing the CKCS breeding population for the identified ACADM variant is recommended to prevent the unintentional breeding of dogs with MCAD deficiency. Further prospective studies are warranted to assess the clinical consequences of this enzyme defect.
- Published
- 2022
- Full Text
- View/download PDF
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