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Find video protocols related to scientific articles indexed in Pubmed.
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
Dongmei Yu, Carol A Mathews, Jeremiah M Scharf, Benjamin M Neale, Lea K Davis, Eric R Gamazon, Eske M Derks, Patrick Evans, Christopher K Edlund, Jacquelyn Crane, Jesen A Fagerness, Lisa Osiecki, Patience Gallagher, Gloria Gerber, Stephen Haddad, Cornelia Illmann, Lauren M McGrath, Catherine Mayerfeld, Sampath Arepalli, Cristina Barlassina, Cathy L Barr, Laura Bellodi, Fortu Benarroch, Gabriel Bedoya Berrió, O Joseph Bienvenu, Donald W Black, Michael H Bloch, Helena Brentani, Ruth D Bruun, Cathy L Budman, Beatriz Camarena, Desmond D Campbell, Carolina Cappi, Julio C Cardona Silgado, Maria C Cavallini, Denise A Chavira, Sylvain Chouinard, Edwin H Cook, M R Cookson, Vladimir Coric, Bernadette Cullen, Daniele Cusi, Richard Delorme, Damiaan Denys, Yves Dion, Valsama Eapen, Karin Egberts, Peter Falkai, Thomas Fernandez, Eduardo Fournier, Helena Garrido, Daniel Geller, Donald Gilbert, Simon L Girard, Hans J Grabe, Marco A Grados, Benjamin D Greenberg, Varda Gross-Tsur, Edna Grünblatt, John Hardy, Gary A Heiman, Sian M J Hemmings, Luis D Herrera, Dianne M Hezel, Pieter J Hoekstra, Joseph Jankovic, James L Kennedy, Robert A King, Anuar I Konkashbaev, Barbara Kremeyer, Roger Kurlan, Nuria Lanzagorta, Marion Leboyer, James F Leckman, Leonhard Lennertz, Chunyu Liu, Christine Lochner, Thomas L Lowe, Sara Lupoli, Fabio Macciardi, Wolfgang Maier, Paolo Manunta, Maurizio Marconi, James T McCracken, Sandra C Mesa Restrepo, Rainald Moessner, Priya Moorjani, Jubel Morgan, Heike Muller, Dennis L Murphy, Allan L Naarden, Erika Nurmi, William Cornejo Ochoa, Roel A Ophoff, Andrew J Pakstis, Michele T Pato, Carlos N Pato, John Piacentini, Christopher Pittenger, Yehuda Pollak, Scott L Rauch, Tobias Renner, Victor I Reus, Margaret A Richter, Mark A Riddle, Mary M Robertson, Roxana Romero, Maria C Rosário, David Rosenberg, Stephan Ruhrmann, Chiara Sabatti, Erika Salvi, Aline S Sampaio, Jack Samuels, Paul Sandor, Susan K Service, Brooke Sheppard, Harvey S Singer, Jan H Smit, Dan J Stein, Eric Strengman, Jay A Tischfield, Maurizio Turiel, Ana V Valencia Duarte, Homero Vallada, Jeremy Veenstra-VanderWeele, Susanne Walitza, Ying Wang, Mike Weale, Robert Weiss, Jens R Wendland, Herman G M Westenberg, Yin Yao Shugart, Ana G Hounie, Euripedes C Miguel, Humberto Nicolini, Michael Wagner, Andrés Ruiz-Linares, Danielle C Cath, William McMahon, Danielle Posthuma, Ben A Oostra, Gerald Nestadt, Guy A Rouleau, Shaun Purcell, Michael A Jenike, Peter Heutink, Gregory L Hanna, David V Conti, Paul D Arnold, Nelson B Freimer, S Evelyn Stewart, James A Knowles, Nancy J Cox, David L Pauls.
Am J Psychiatry
PUBLISHED: 08-26-2014
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Obsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that are thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex disorders remains elusive. The authors report a combined genome-wide association study (GWAS) of Tourette's syndrome and OCD.
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Characterization of minipuberty in infants with prader-willi syndrome.
Horm Res Paediatr
PUBLISHED: 08-23-2014
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Minipuberty describes transient activation of the hypothalamic-pituitary-gonadal axis occurring during the first few months of life. Hormone levels during minipuberty were described in only a few Prader-Willi syndrome (PWS) infant boys and have not been reported in PWS infant girls.
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The Efficacy of Computerized Cognitive Training in Adults With ADHD: A Randomized Controlled Trial.
J Atten Disord
PUBLISHED: 04-24-2014
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Objective: This is a randomized control trial examining the efficiency of computerized cognitive training (CCT) for adults with ADHD, comparing two training conditions with graded levels of executive cognitive demands. Method: Adults with ADHD (n = 60) were randomized into study (n = 34) and control (n = 26) groups. Training was conducted with the computerized AttenFocus program. Control group received a simple, non-hierarchical version with less executive demands. Results: Significant positive changes in symptoms ratings, ecological measures of executive functions, and occupational performance were found in both groups. No significant changes were found in variables of neurocognitive performance battery and quality of life. No significant time by group interaction effects were found. Conclusion: No benefits of the intervention were found relative to the control. Lack of interaction effects may be due to insufficient power, non-specific cognitive training or placebo effects. Results demonstrate some positive findings for general CCT, yet do not support the inclusion of specific higher level executive training.
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Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.
Lauren M McGrath, Dongmei Yu, Christian Marshall, Lea K Davis, Bhooma Thiruvahindrapuram, Bingbin Li, Carolina Cappi, Gloria Gerber, Aaron Wolf, Frederick A Schroeder, Lisa Osiecki, Colm O'Dushlaine, Andrew Kirby, Cornelia Illmann, Stephen Haddad, Patience Gallagher, Jesen A Fagerness, Cathy L Barr, Laura Bellodi, Fortu Benarroch, O Joseph Bienvenu, Donald W Black, Michael H Bloch, Ruth D Bruun, Cathy L Budman, Beatriz Camarena, Danielle C Cath, Maria C Cavallini, Sylvain Chouinard, Vladimir Coric, Bernadette Cullen, Richard Delorme, Damiaan Denys, Eske M Derks, Yves Dion, Maria C Rosário, Valsama Eapen, Patrick Evans, Peter Falkai, Thomas V Fernandez, Helena Garrido, Daniel Geller, Hans J Grabe, Marco A Grados, Benjamin D Greenberg, Varda Gross-Tsur, Edna Grünblatt, Gary A Heiman, Sian M J Hemmings, Luis D Herrera, Ana G Hounie, Joseph Jankovic, James L Kennedy, Robert A King, Roger Kurlan, Nuria Lanzagorta, Marion Leboyer, James F Leckman, Leonhard Lennertz, Christine Lochner, Thomas L Lowe, Gholson J Lyon, Fabio Macciardi, Wolfgang Maier, James T McCracken, William McMahon, Dennis L Murphy, Allan L Naarden, Benjamin M Neale, Erika Nurmi, Andrew J Pakstis, Michele T Pato, Carlos N Pato, John Piacentini, Christopher Pittenger, Yehuda Pollak, Victor I Reus, Margaret A Richter, Mark Riddle, Mary M Robertson, David Rosenberg, Guy A Rouleau, Stephan Ruhrmann, Aline S Sampaio, Jack Samuels, Paul Sandor, Brooke Sheppard, Harvey S Singer, Jan H Smit, Dan J Stein, Jay A Tischfield, Homero Vallada, Jeremy Veenstra-VanderWeele, Susanne Walitza, Ying Wang, Jens R Wendland, Yin Yao Shugart, Euripedes C Miguel, Humberto Nicolini, Ben A Oostra, Rainald Moessner, Michael Wagner, Andrés Ruiz-Linares, Peter Heutink, Gerald Nestadt, Nelson Freimer, Tracey Petryshen, Danielle Posthuma, Michael A Jenike, Nancy J Cox, Gregory L Hanna, Helena Brentani, Stephen W Scherer, Paul D Arnold, S Evelyn Stewart, Carol A Mathews, James A Knowles, Edwin H Cook, David L Pauls, Kai Wang, Jeremiah M Scharf.
J Am Acad Child Adolesc Psychiatry
PUBLISHED: 03-16-2014
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Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (<1%) copy number variants (CNVs) in OCD and the largest genome-wide CNV analysis in TS to date.
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Risk taking in adolescents with attention deficit hyperactivity disorder on a probabilistic choice task.
J. Nerv. Ment. Dis.
PUBLISHED: 02-26-2014
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Risk taking is commonly attributed to individuals with attention deficit hyperactivity disorder (ADHD). This study investigated whether adolescents with ADHD would choose to take greater risks on a probabilistic task in which contingencies are explicitly presented. Adolescents with and without ADHD, aged 13 to 18 years, performed a modified version of the Cambridge Gambling Task. The subjects with ADHD risked smaller sums and chose the unfavorable outcomes more frequently than did the controls but had the same speed of decision and risk adjustment. The results indicate that their poor decisions were not due to impulsivity or insensitivity to the concept of probability and that increased risk taking is not always associated with ADHD. Moreover, in situations that do not demand learning of contingencies, ADHD may be associated with decreased, rather than increased, risk taking.
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Cerebral palsy risk factors and their impact on psychopathology.
Neurol. Res.
PUBLISHED: 01-11-2014
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We examined whether the type of brain injury impacts the psychopathological profile and quality of life in children with cerebral palsy (CP).
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The Relationship Between Executive Functions and Quality of Life in Adults With ADHD.
J Atten Disord
PUBLISHED: 11-06-2013
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Objective: Adult ADHD is associated with impaired quality of life (QoL) and deficient executive function (EF). Given the absence of studies examining the relationship between EF and health-related quality of life (HRQL) in this population, the purpose of the present study was to do so, by the use of rating scales and tests. Method: Adults with ADHD (n = 81) completed ADHD and EF questionnaires and a neuropsychological battery. Results: Small to large significant correlations were found between EF ratings and HRQL for most of the variables. No significant correlations were found between all but one EF test and HRQL. Both ADHD symptoms and EF rating, but not the EF test, were found to have a unique contribution to the HRQL. Conclusion: These results strengthen the ecological validity of the EF rating scales and their utility in identifying EF deficits with real-world implications for adults with ADHD. (J. of Att. Dis. XXXX; XX(X) XX-XX).
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Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.
Lea K Davis, Dongmei Yu, Clare L Keenan, Eric R Gamazon, Anuar I Konkashbaev, Eske M Derks, Benjamin M Neale, Jian Yang, S Hong Lee, Patrick Evans, Cathy L Barr, Laura Bellodi, Fortu Benarroch, Gabriel Bedoya Berrió, Oscar J Bienvenu, Michael H Bloch, Rianne M Blom, Ruth D Bruun, Cathy L Budman, Beatriz Camarena, Desmond Campbell, Carolina Cappi, Julio C Cardona Silgado, Danielle C Cath, Maria C Cavallini, Denise A Chavira, Sylvain Chouinard, David V Conti, Edwin H Cook, Vladimir Coric, Bernadette A Cullen, Dieter Deforce, Richard Delorme, Yves Dion, Christopher K Edlund, Karin Egberts, Peter Falkai, Thomas V Fernandez, Patience J Gallagher, Helena Garrido, Daniel Geller, Simon L Girard, Hans J Grabe, Marco A Grados, Benjamin D Greenberg, Varda Gross-Tsur, Stephen Haddad, Gary A Heiman, Sian M J Hemmings, Ana G Hounie, Cornelia Illmann, Joseph Jankovic, Michael A Jenike, James L Kennedy, Robert A King, Barbara Kremeyer, Roger Kurlan, Nuria Lanzagorta, Marion Leboyer, James F Leckman, Leonhard Lennertz, Chunyu Liu, Christine Lochner, Thomas L Lowe, Fabio Macciardi, James T McCracken, Lauren M McGrath, Sandra C Mesa Restrepo, Rainald Moessner, Jubel Morgan, Heike Muller, Dennis L Murphy, Allan L Naarden, William Cornejo Ochoa, Roel A Ophoff, Lisa Osiecki, Andrew J Pakstis, Michele T Pato, Carlos N Pato, John Piacentini, Christopher Pittenger, Yehuda Pollak, Scott L Rauch, Tobias J Renner, Victor I Reus, Margaret A Richter, Mark A Riddle, Mary M Robertson, Roxana Romero, Maria C Rosário, David Rosenberg, Guy A Rouleau, Stephan Ruhrmann, Andrés Ruiz-Linares, Aline S Sampaio, Jack Samuels, Paul Sandor, Brooke Sheppard, Harvey S Singer, Jan H Smit, Dan J Stein, E Strengman, Jay A Tischfield, Ana V Valencia Duarte, Homero Vallada, Filip Van Nieuwerburgh, Jeremy Veenstra-VanderWeele, Susanne Walitza, Ying Wang, Jens R Wendland, Herman G M Westenberg, Yin Yao Shugart, Euripedes C Miguel, William McMahon, Michael Wagner, Humberto Nicolini, Danielle Posthuma, Gregory L Hanna, Peter Heutink, Damiaan Denys, Paul D Arnold, Ben A Oostra, Gerald Nestadt, Nelson B Freimer, David L Pauls, Naomi R Wray, S Evelyn Stewart, Carol A Mathews, James A Knowles, Nancy J Cox, Jeremiah M Scharf.
PLoS Genet.
PUBLISHED: 10-01-2013
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The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12) for TS, and 0.37 (se = 0.07, p = 1.5e-07) for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum) for which we had available expression quantitative trait loci (eQTLs). Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002). These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed) from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures.
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Management of hypogonadism in adolescent girls and adult women with Prader-Willi syndrome.
Am. J. Med. Genet. A
PUBLISHED: 04-02-2013
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Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by an insatiable appetite, dysmorphic features, cognitive and behavioral difficulties, and hypogonadism. The heterogeneous reproductive hormone profiles indicate that some PWS women may have symptoms of hypoestrogenism, while others may potentially be fertile. We describe our experience in the assessment and treatment of hypogonadism in adolescents and adult females with PWS. The study population consisted of 20 PWS females, age ?16 years (27.3?±?7.9 years), followed in our clinic (12 deletion, 7 uniparental disomy, 1 imprinting-center defect). General physical examination, pubertal assessment, body mass index (BMI), gynecological examination, ultrasonography, bone densitometry, and hormonal profiles [FSH, LH, inhibin B, estradiol, prolactin, and TSH] were performed. The relevant assessed factors were: FSH and inhibin B, menstrual cycles (oligo/amenorrhea or irregular bleeding), ultrasound findings (endometrial thickness, uterine/ovarian abnormalities), BMI, bone densitometry, and patient/caregivers attitude. We classified seven women with inhibin B >20?ng/ml as potentially fertile. Following the assessment of the above factors, we recommended the individual-specific treatment; contraceptive pills, intra-uterine device, estrogen/progesterone replacement, and cyclic progesterone, in 3, 1, 4, and 1 patients, respectively. Four patients did not follow our recommendations due to poor compliance or family refusal. We recommended contraception pills for one 26-year-old woman with inhibin B and FSH levels 53?ng/ml and 6.4?IU/L; however, she refused treatment, conceived spontaneously and had an abortion. Guidelines for hormonal replacement therapy in PWS need to be tailored individually depending on physical development, hormonal profiles, bone density, and emotional and social needs of each PWS adolescent and adult. © 2013 Wiley Periodicals, Inc.
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Do ADHD and executive dysfunctions, measured by the hebrew version of Behavioral Rating Inventory of Executive Functions (BRIEF), completely overlap?
Child Neuropsychol
PUBLISHED: 06-04-2010
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The centrality of executive function deficits (EFD) in attention deficit/ hyperactivity disorder (ADHD) is well accepted albeit EFD is not synonymous with ADHD. The purpose of the present study was to examine the extent to which ADHD and EF overlap and to validate the Hebrew version of the Behavioral Rating Inventory of Executive Functions (BRIEF). Parents of 178 children with and without ADHD completed the BRIEF and the ADHD-Rating Scale. Significant differences were found between groups on each scale even after controlling for the other scale. Internal consistency analysis supported the reliability of the Hebrew version of the BRIEF. We conclude that ADHD and Executive Dysfunctions do not completely overlap.
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[The utility of a continuous performance test embedded in virtual reality in measuring the effectiveness of MPH treatment in boys with ADHD].
Harefuah
PUBLISHED: 04-29-2010
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Continuous performance tasks (CPT) are popular in the diagnostic process of attention deficit hyperactivity disorder (ADHD), providing an objective measure of attention for a disorder with otherwise subjective criteria.
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Methylphenidate effect in children with ADHD can be measured by an ecologically valid continuous performance test embedded in virtual reality.
CNS Spectr
PUBLISHED: 04-24-2010
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Continuous performance tasks (CPTs) embedded in a virtual reality (VR) classroom environment have been shown to be a sensitive and user-friendly assessment tool to detect cognitive deficits related to attention-deficit/hyperactivity disorder (ADHD). The aim of the current study was to compare the performance of children with ADHD on a VR-CPT while on and off treatment with methylphenidate (MPH) and to compare the VR-CPT to a currently used CPT, Test of Variables of Attention (TOVA).
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Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study.
J. Inherit. Metab. Dis.
PUBLISHED: 01-06-2010
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Anderson-Fabry disease (AFD) is an X-linked inherited lysosomal storage disorder disease caused by a deficiency in the activity of the alpha-galactosidase enzyme. We investigated neuropsychological and psychiatric function in AFD patients. We studied 16 AFD patients, aged 7 to 61 years. Intelligence, language, vision-spatial abilities, memory, sensorimotor abilities, and attention and executive functions were tested with a computerized test battery as well as standard paper and pencil tests. The results were compared to known age-based norms. In addition, all patients were screened for lifelong DSM-IV Axis-I and Axis-II psychiatric diagnoses, and 4 were interviewed by a psychiatrist. Performance on most cognitive measures was within average range. All measures of information processing speed were significantly reduced, as were some measures of executive functions. Ten out of 16 patients met DSM-IV criteria for Axis I or Axis II diagnoses at some point in their lives. This preliminary study delineates a psychiatric and cognitive phenotype in AFD patients and contributes to the growing field of characterizing behavioral phenotypes of patients with genetic diseases. We suggest that psychiatric and neuro-psychological evaluation be included in the patients evaluation.
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Tourette syndrome-associated psychopathology: roles of comorbid attention-deficit hyperactivity disorder and obsessive-compulsive disorder.
J Dev Behav Pediatr
PUBLISHED: 10-16-2009
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Individuals with Tourette syndrome (TS) often display comorbid symptoms of attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD), as well as externalizing and internalizing behaviors. This study was aimed to examine the impacts of tic severity, ADHD symptoms, and OCD on internalizing (e.g., anxiety) and externalizing (e.g., aggression) psychopathology.
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The utility of a continuous performance test embedded in virtual reality in measuring ADHD-related deficits.
J Dev Behav Pediatr
PUBLISHED: 02-06-2009
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Continuous performance tasks (CPT) are popular in the diagnostic process of Attention Deficit/Hyperactivity Disorder (ADHD), providing an objective measure of attention for a disorder with otherwise subjective criteria. Aims of the study were to: (1) compare the performance of children with ADHD on a CPT embedded within a virtual reality classroom (VR-CPT) to the currently used Test of Variables of Attention (TOVA) CPT, and (2) assess how the VR environment is experienced.
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What is Visualize?

JoVE Visualize is a tool created to match the last 5 years of PubMed publications to methods in JoVE's video library.

How does it work?

We use abstracts found on PubMed and match them to JoVE videos to create a list of 10 to 30 related methods videos.

Video X seems to be unrelated to Abstract Y...

In developing our video relationships, we compare around 5 million PubMed articles to our library of over 4,500 methods videos. In some cases the language used in the PubMed abstracts makes matching that content to a JoVE video difficult. In other cases, there happens not to be any content in our video library that is relevant to the topic of a given abstract. In these cases, our algorithms are trying their best to display videos with relevant content, which can sometimes result in matched videos with only a slight relation.