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Full-Text Articles in Medicine and Health Sciences

Effects Of Antipsychotics, Antidepressants And Mood Stabilizers On Risk For Physical Diseases In People With Schizophrenia, Depression And Bipolar Disorder, C. U. Correll, J. Detraux, J. De Lepeleire, M. De Hert Jan 2015

Effects Of Antipsychotics, Antidepressants And Mood Stabilizers On Risk For Physical Diseases In People With Schizophrenia, Depression And Bipolar Disorder, C. U. Correll, J. Detraux, J. De Lepeleire, M. De Hert

Journal Articles

People with severe mental illness have a considerably shorter lifespan than the general population. This excess mortality is mainly due to physical illness. Next to mental illness-related factors, unhealthy lifestyle, and disparities in health care access and utilization, psychotropic medications can contribute to the risk of physical morbidity and mortality. We systematically reviewed the effects of antipsychotics, antidepressants and mood stabilizers on physical health outcomes in people with schizophrenia, depression and bipolar disorder. Updating and expanding our prior systematic review published in this journal, we searched MEDLINE (November 2009 - November 2014), combining the MeSH terms of major physical disease …


Young-Onset Dementia Epidemiology Applied To Neuropsychiatry Practice, B. Devineni, C. U. Onyike Jan 2015

Young-Onset Dementia Epidemiology Applied To Neuropsychiatry Practice, B. Devineni, C. U. Onyike

Journal Articles

A substantial number of adults suffer young-onset dementia (YOD). The diversity of types and syndromes makes recognition and diagnosis difficult. An algorithmic approach to interpreting clinical data, informed by clinical epidemiology, integrates data pertaining to defining syndromes. Syndrome chronology and tempo, family history, and other neuropsychiatric features and neurologic signs, are used to reach a preliminary diagnosis and direct diagnostic tests and their interpretation. Screening for YOD in the psychiatric context is a rational process in which vigilance is combined with careful searches for red flags that signal a neurodegenerative etiology.


Six-Month Outcomes From A Randomized Trial Augmenting Serotonin Reuptake Inhibitors With Exposure And Response Prevention Or Risperidone In Adults With Obsessive-Compulsive Disorder, E. B. Foa, H. B. Simpson, D. Rosenfield, M. R. Liebowitz, S. P. Cahill, J. D. Huppert, J., Jr. Bender, C. P. Mclean, M. J. Maher, R. Campeas, C. G. Hahn, P. Imms, A. Pinto, M. B. Powers, C. I. Rodriguez, P. E. Van Meter, D. Vermes, M. T. Williams Jan 2015

Six-Month Outcomes From A Randomized Trial Augmenting Serotonin Reuptake Inhibitors With Exposure And Response Prevention Or Risperidone In Adults With Obsessive-Compulsive Disorder, E. B. Foa, H. B. Simpson, D. Rosenfield, M. R. Liebowitz, S. P. Cahill, J. D. Huppert, J., Jr. Bender, C. P. Mclean, M. J. Maher, R. Campeas, C. G. Hahn, P. Imms, A. Pinto, M. B. Powers, C. I. Rodriguez, P. E. Van Meter, D. Vermes, M. T. Williams

Journal Articles

OBJECTIVE: To compare outcomes after 6-month maintenance treatment of adults diagnosed with obsessive-compulsive disorder (OCD) based on DSM-IV criteria who responded to acute treatment with serotonin reuptake inhibitors (SRIs) augmented by exposure and response prevention (EX/RP) or risperidone. METHOD: A randomized trial was conducted at 2 academic sites from January 2007 through December 2012. In the acute phase, 100 patients on therapeutic SRI dose with at least moderate OCD severity were randomized to 8 weeks of EX/RP, risperidone, or pill placebo. Responders entered the 6-month maintenance phase, continuing the augmentation strategy they received acutely (n = 30 EX/RP, n = …


Predictors Of Suicide Attempts In 3.322 Patients With Affective Disorders And Schizophrenia Spectrum Disorders, J. A. Gallego, V. Rachamallu, E. Y. Yuen, S. Fink, L. M. Duque, J. M. Kane Jan 2015

Predictors Of Suicide Attempts In 3.322 Patients With Affective Disorders And Schizophrenia Spectrum Disorders, J. A. Gallego, V. Rachamallu, E. Y. Yuen, S. Fink, L. M. Duque, J. M. Kane

Journal Articles

This study explores risk factors for suicide attempts using the electronic health records of 3322 patients with either schizophrenia spectrum disorders or affective disorders who underwent a comprehensive psychiatric evaluation at the Emergency Department at the Long Island Jewish Medical Center or the Hillside Evaluation Center at The Zucker Hillside Hospital from August 3rd 2011 to July 5th 2012. Multivariate regression analyses showed, after adjusting for sex, that previous suicidal attempts and financial or relationship losses were significantly associated with a current suicidal attempt. Additionally, higher odds of having a suicidal attempt were also found in those subjects with a …


Memory Systems In Schizophrenia: Modularity Is Preserved But Deficits Are Generalized, K. M. Haut, K. H. Karlsgodt, R. M. Bilder, E. Congdon, N. B. Freimer, E. D. London, F. W. Sabb, J. Ventura, T. D. Cannon Jan 2015

Memory Systems In Schizophrenia: Modularity Is Preserved But Deficits Are Generalized, K. M. Haut, K. H. Karlsgodt, R. M. Bilder, E. Congdon, N. B. Freimer, E. D. London, F. W. Sabb, J. Ventura, T. D. Cannon

Journal Articles

OBJECTIVE: Schizophrenia patients exhibit impaired working and episodic memory, but this may represent generalized impairment across memory modalities or performance deficits restricted to particular memory systems in subgroups of patients. Furthermore, it is unclear whether deficits are unique from those associated with other disorders. METHOD: Healthy controls (n=1101) and patients with schizophrenia (n=58), bipolar disorder (n=49) and attention-deficit-hyperactivity-disorder (n=46) performed 18 tasks addressing primarily verbal and spatial episodic and working memory. Effect sizes for group contrasts were compared across tasks and the consistency of subjects' distributional positions across memory domains was measured. RESULTS: Schizophrenia patients performed poorly relative to the …


Genome-Wide Autozygosity Is Associated With Lower General Cognitive Ability, D. P. Howrigan, M. A. Simonson, G. Davies, S. E. Harris, A. Tenesa, J. M. Starr, D. C. Liewald, D. I. Boomsma, P. Derosse, M. C. Keller, +37 Additional Authors Jan 2015

Genome-Wide Autozygosity Is Associated With Lower General Cognitive Ability, D. P. Howrigan, M. A. Simonson, G. Davies, S. E. Harris, A. Tenesa, J. M. Starr, D. C. Liewald, D. I. Boomsma, P. Derosse, M. C. Keller, +37 Additional Authors

Journal Articles

Inbreeding depression refers to lower fitness among offspring of genetic relatives. This reduced fitness is caused by the inheritance of two identical chromosomal segments (autozygosity) across the genome, which may expose the effects of (partially) recessive deleterious mutations. Even among outbred populations, autozygosity can occur to varying degrees due to cryptic relatedness between parents. Using dense genome-wide single-nucleotide polymorphism (SNP) data, we examined the degree to which autozygosity associated with measured cognitive ability in an unselected sample of 4854 participants of European ancestry. We used runs of homozygosity-multiple homozygous SNPs in a row-to estimate autozygous tracts across the genome. We …


New Data And An Old Puzzle: The Negative Association Between Schizophrenia And Rheumatoid Arthritis, S. H. Lee, T. Lencz, A. K. Malhotra, H. Medeiros, V. Milanova, J. Shi, P. Sklar, P. K. Gregersen, M. Van Laar, P. Van Riel, +134 Additional Authors Jan 2015

New Data And An Old Puzzle: The Negative Association Between Schizophrenia And Rheumatoid Arthritis, S. H. Lee, T. Lencz, A. K. Malhotra, H. Medeiros, V. Milanova, J. Shi, P. Sklar, P. K. Gregersen, M. Van Laar, P. Van Riel, +134 Additional Authors

Journal Articles

BACKGROUND: A long-standing epidemiological puzzle is the reduced rate of rheumatoid arthritis (RA) in those with schizophrenia (SZ) and vice versa. Traditional epidemiological approaches to determine if this negative association is underpinned by genetic factors would test for reduced rates of one disorder in relatives of the other, but sufficiently powered data sets are difficult to achieve. The genomics era presents an alternative paradigm for investigating the genetic relationship between two uncommon disorders. METHODS: We use genome-wide common single nucleotide polymorphism (SNP) data from independently collected SZ and RA case-control cohorts to estimate the SNP correlation between the disorders. We …


Targeting The Schizophrenia Genome: A Fast Track Strategy From Gwas To Clinic, T. Lencz, A. K. Malhotra Jan 2015

Targeting The Schizophrenia Genome: A Fast Track Strategy From Gwas To Clinic, T. Lencz, A. K. Malhotra

Journal Articles

The Psychiatric Genomics Consortium-Schizophrenia Workgroup (PGC-SCZ) has recently published a genomewide association study (GWAS) identifying > 100 genetic loci, encompassing a total of 341 protein-coding genes, attaining genomewide significance for susceptibility to schizophrenia. Given the extremely long time (12-15 years) and expense (>$1 billion) associated with the development of novel drug targets, repurposing of drugs with known and validated targets may be the most expeditious path toward deriving clinical utility from these GWAS findings. In the present study, we examined all genes within loci implicated by the PGC-SCZ GWAS against databases of targets of both approved and registered pharmaceutical compounds. …


Prognostic Role And Implications Of Mutation Status Of Tumor Suppressor Gene Arid1a In Cancer: A Systematic Review And Meta-Analysis, C. Luchini, N. Veronese, M. Solmi, H. Cho, J. H. Kim, S. Kyo, S. Y. Lee, D. W. Kim, G. M. Yousef, C. U. Correll, +22 Additional Authors Jan 2015

Prognostic Role And Implications Of Mutation Status Of Tumor Suppressor Gene Arid1a In Cancer: A Systematic Review And Meta-Analysis, C. Luchini, N. Veronese, M. Solmi, H. Cho, J. H. Kim, S. Kyo, S. Y. Lee, D. W. Kim, G. M. Yousef, C. U. Correll, +22 Additional Authors

Journal Articles

Loss of the tumor suppressor gene AT-rich interactive domain-containing protein 1A (ARID1A) has been demonstrated in several cancers, but its prognostic role is unknown. We aimed to investigate the risk associated with loss of ARID1A (ARID1A-) for all-cause mortality, cancer-specific mortality and recurrence of disease in subjects with cancer. PubMed and SCOPUS search from database inception until 01/31/2015 without language restriction was conducted, contacting authors for unpublished data. Eligible were prospective studies reporting data on prognostic parameters in subjects with cancer, comparing participants with presence of ARID1A (ARID1A+) vs. ARID1A-, assessed either via immunohistochemistry (loss of expression) or with genetic …


Neural Substrates Of Inhibitory Control Deficits In 22q11.2 Deletion Syndrome, C. A. Montojo, M. Jalbrzikowski, E. Congdon, S. Domicoli, C. Chow, C. Dawson, K. H. Karlsgodt, R. M. Bilder, C. E. Bearden Jan 2015

Neural Substrates Of Inhibitory Control Deficits In 22q11.2 Deletion Syndrome, C. A. Montojo, M. Jalbrzikowski, E. Congdon, S. Domicoli, C. Chow, C. Dawson, K. H. Karlsgodt, R. M. Bilder, C. E. Bearden

Journal Articles

22q11.2 deletion syndrome (22q11DS) is associated with elevated levels of impulsivity, inattention, and distractibility, which may be related to underlying neurobiological dysfunction due to haploin-sufficiency for genes involved in dopaminergic neurotransmission (i. e. catechol-O-methyltransferase). The Stop-signal task has been employed to probe the neural circuitry involved in response inhibition (RI); findings in healthy individuals indicate that a fronto-basal ganglia network underlies successful inhibition of a prepotent motor response. However, little is known about the neurobiological substrates of RI difficulties in 22q11DS. Here, we investigated this using functional magnetic resonance imaging while 45 adult participants (15 22q11DS patients, 30 matched controls) …


The Navigate Program For First-Episode Psychosis: Rationale, Overview, And Description Of Psychosocial Components, K. T. Mueser, D. L. Penn, P. Meyer-Kalos, S. R. Mcgurk, C. Cather, S. Saade, D. G. Robinson, N. R. Schooler, R. A. Rosenheck, J. M. Kane, +6 Additional Authors Jan 2015

The Navigate Program For First-Episode Psychosis: Rationale, Overview, And Description Of Psychosocial Components, K. T. Mueser, D. L. Penn, P. Meyer-Kalos, S. R. Mcgurk, C. Cather, S. Saade, D. G. Robinson, N. R. Schooler, R. A. Rosenheck, J. M. Kane, +6 Additional Authors

Journal Articles

Comprehensive coordinated specialty care programs for first-episode psychosis have been widely implemented in other countries but not in the United States. The National Institute of Mental Health's Recovery After an Initial Schizophrenia Episode (RAISE) initiative focused on the development and evaluation of first-episode treatment programs designed for the U.S. health care system. This article describes the background, rationale, and nature of the intervention developed by the RAISE Early Treatment Program project-known as the NAVIGATE program-with a particular focus on its psychosocial components. NAVIGATE is a team-based, multicomponent treatment program designed to be implemented in routine mental health treatment settings and …


Psychiatric Genome-Wide Association Study Analyses Implicate Neuronal, Immune And Histone Pathways, C. O'Dushlaine, C. Betancur, S. Herms, R. Krasucki, M. Leboyer, D. H. Ledbetter, T. Lencz, A. K. Malhotra, J. W. Smoller, P. A. Holmans, +365 Additional Authors Jan 2015

Psychiatric Genome-Wide Association Study Analyses Implicate Neuronal, Immune And Histone Pathways, C. O'Dushlaine, C. Betancur, S. Herms, R. Krasucki, M. Leboyer, D. H. Ledbetter, T. Lencz, A. K. Malhotra, J. W. Smoller, P. A. Holmans, +365 Additional Authors

Journal Articles

Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from over 60,000 participants from the Psychiatric Genomics Consortium. We developed an analysis framework to rank pathways that requires only summary statistics. We combined this score across disorders to find common pathways across three adult psychiatric disorders: schizophrenia, major depression and bipolar disorder. Histone methylation processes showed the strongest association, and we also found statistically significant evidence for associations with multiple …


Severity Of Thought Disorder Predicts Psychosis In Persons At Clinical High-Risk, D. O. Perkins, C. D. Jeffries, B. A. Cornblatt, S. W. Woods, J. Addington, D. H. Mathalon, L. J. Seidman, M. T. Tsuang, E. F. Walker, T. H. Mcglashan, +4 Additional Authors Jan 2015

Severity Of Thought Disorder Predicts Psychosis In Persons At Clinical High-Risk, D. O. Perkins, C. D. Jeffries, B. A. Cornblatt, S. W. Woods, J. Addington, D. H. Mathalon, L. J. Seidman, M. T. Tsuang, E. F. Walker, T. H. Mcglashan, +4 Additional Authors

Journal Articles

BACKGROUND: Improving predictive accuracy is of paramount importance for early detection and prevention of psychosis. We sought a symptom severity classifier that would improve psychosis risk prediction. METHODS: Subjects were from two cohorts of the North American Prodrome Longitudinal Study. All subjects met Criteria of Psychosis-Risk States. In Cohort-1 (n=296) we developed a classifier that included those items of the Scale of Psychosis-Risk Symptoms that best distinguished subjects who converted to psychosis from nonconverters, with performance initially validated by randomization tests in Cohort-1. Cohort-2 (n=592) served as an independent test set. RESULTS: We derived 2-Item and 4-Item subscales. Both included …


Prevalence Of Childhood Obsessive-Compulsive Personality Traits In Adults With Obsessive Compulsive Disorder Versus Obsessive Compulsive Personality Disorder, A. Pinto, A. L. Greene, E. A. Storch, H. B. Simpson Jan 2015

Prevalence Of Childhood Obsessive-Compulsive Personality Traits In Adults With Obsessive Compulsive Disorder Versus Obsessive Compulsive Personality Disorder, A. Pinto, A. L. Greene, E. A. Storch, H. B. Simpson

Journal Articles

Identifying risk factors of psychopathology has been an important research challenge. Prior studies examining the impact of childhood temperament on adult disorder have largely focused on under-controlled and inhibited presentations, with little study of overcontrolled traits such as obsessive-compulsive personality traits (OCPTs). We compared rates of childhood OCPTs in adults with OCD (without OCPD) (n=28) to adults with OCPD (without OCD) (n=27), adults with both OCD and OCPD (n=28), and healthy controls (HC) (n=28), using the childhood retrospective perfectionism questionnaire, a validated measure of perfectionism, inflexibility, and drive for order. Adults with OCPD (both with and without comorbid OCD) reported …


Iqgap1 Regulates Actin Cytoskeleton Organization In Podocytes Through Interaction With Nephrin, Y. P. Liu, W. Liang, Y. J. Yang, Y. B. Pan, Q. Yang, X. H. Chen, P. C. Singhal, G. H. Ding Jan 2015

Iqgap1 Regulates Actin Cytoskeleton Organization In Podocytes Through Interaction With Nephrin, Y. P. Liu, W. Liang, Y. J. Yang, Y. B. Pan, Q. Yang, X. H. Chen, P. C. Singhal, G. H. Ding

Journal Articles

Increasing data has shown that the cytoskeletal reorganization of podocytes is involved in the onset of proteinuria and the progression of glomerular disease. Nephrin behaves as a signal sensor of the slit diaphragm to transmit cytoskeletal signals to maintain the unique structure of podocytes. However, the nephrin signaling cascade deserves further study. IQGAP1 is a scaffolding protein with the ability to regulate cytoskeletal organization. It is hypothesized that IQGAP1 contributes to actin reorganization in podocytes through interaction with nephrin. IQGAP1 expression and IQGAP1-nephrin colocalization in glomeruli were progressively decreased and then gradually recovered in line with the development of foot …


Integration Of Palliative Care In The Context Of Rapid Response A Report From The Improving Palliative Care In The Icu Advisory Board, J. E. Nelson, K. S. Mathews, D. E. Weissman, K. J. Brasel, M. Campbell, J. R. Curtis, J. A. Frontera, M. Gabriel, R. M. Hays, D. R. Lustbader, +7 Additional Authors Jan 2015

Integration Of Palliative Care In The Context Of Rapid Response A Report From The Improving Palliative Care In The Icu Advisory Board, J. E. Nelson, K. S. Mathews, D. E. Weissman, K. J. Brasel, M. Campbell, J. R. Curtis, J. A. Frontera, M. Gabriel, R. M. Hays, D. R. Lustbader, +7 Additional Authors

Journal Articles

Rapid response teams (RRTs) can effectively foster discussions about appropriate goals of care and address other emergent palliative care needs of patients and families facing life-threatening illness on hospital wards. In this article, The Improving Palliative Care in the ICU (IPAL-ICU) Project brings together interdisciplinary expertise and existing data to address the following: special challenges for providing palliative care in the rapid response setting, knowledge and skills needed by RRTs for delivery of high-quality palliative care, and strategies for improving the integration of palliative care with rapid response critical care. We discuss key components of communication with patients, families, and …


Body Mass Index, Pam50 Subtype, And Outcomes In Node-Positive Breast Cancer: Calgb 9741 (Alliance), J. A. Ligibel, C. T. Cirrincione, M. Liu, M. Citron, J. N. Ingle, W. Gradishar, S. Martino, W. Sikov, R. Michaelson, W. T. Barry, +6 Additional Authors Jan 2015

Body Mass Index, Pam50 Subtype, And Outcomes In Node-Positive Breast Cancer: Calgb 9741 (Alliance), J. A. Ligibel, C. T. Cirrincione, M. Liu, M. Citron, J. N. Ingle, W. Gradishar, S. Martino, W. Sikov, R. Michaelson, W. T. Barry, +6 Additional Authors

Journal Articles

BACKGROUND: Obesity at diagnosis is associated with poor prognosis in women with breast cancer, but few reports have been adjusted for treatment factors. METHODS: CALGB 9741 was a randomized trial of dose density and sequence of chemotherapy for node-positive breast cancer. All patients received doxorubicin, cyclophosphamide, and paclitaxel, dosed by actual body weight. Height and weight at diagnosis were abstracted from patient records, and the PAM50 assay was performed from archived specimens using the NanoString platform. Relationships between body mass index (BMI), PAM50, and recurrence-free and overall survival (RFS and OS) were evaluated using proportional hazards regression, adjusting for number …


All-Oral 12-Week Treatment With Daclatasvir Plus Sofosbuvir In Patients With Hepatitis C Virus Genotype 3 Infection: Ally-3 Phase Iii Study, D. R. Nelson, J. N. Cooper, J. P. Lalezari, E. Lawitz, P. J. Pockros, N. Gitlin, B. F. Freilich, Z. H. Younes, D. Berastein, E. A. Hughes, +15 Additional Authors Jan 2015

All-Oral 12-Week Treatment With Daclatasvir Plus Sofosbuvir In Patients With Hepatitis C Virus Genotype 3 Infection: Ally-3 Phase Iii Study, D. R. Nelson, J. N. Cooper, J. P. Lalezari, E. Lawitz, P. J. Pockros, N. Gitlin, B. F. Freilich, Z. H. Younes, D. Berastein, E. A. Hughes, +15 Additional Authors

Journal Articles

Treatment options for patients with hepatitis C virus (HCV) genotype 3 infection are limited, with the currently approved all-oral regimens requiring 24-week treatment and the addition of ribavirin (RBV). This phase III study (ALLY-3; : NCT02032901) evaluated the 12-week regimen of daclatasvir (DCV; pangenotypic nonstructural protein [NS]5A inhibitor) plus sofosbuvir (SOF; pangenotypic NS5B inhibitor) in patients infected with genotype 3. Patients were either treatment naive (n=101) or treatment experienced (n=51) and received DCV 60 mg plus SOF 400 mg once-daily for 12 weeks. Coprimary endpoints were the proportions of treatment-naive and treatment-experienced patients achieving a sustained virological response (SVR) at …


Comparison Of Endoscopic Ultrasound Guided 22-Gauge Core Needle With Standard 25-Gauge Fine-Needle Aspiration For Diagnosing Solid Pancreatic Lesions, M. Berzosa, N. Villa, H. B. El-Serag, D. V. Sejpal, K. K. Patel Jan 2015

Comparison Of Endoscopic Ultrasound Guided 22-Gauge Core Needle With Standard 25-Gauge Fine-Needle Aspiration For Diagnosing Solid Pancreatic Lesions, M. Berzosa, N. Villa, H. B. El-Serag, D. V. Sejpal, K. K. Patel

Journal Articles

Background and Objectives: Endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) is the standard modality for diagnosing pancreatic masses. We compared the diagnostic yield of a new EUS-guided 22-gauge core needle biopsy to a standard 25-gauge FNA in sampling the same pancreatic lesions during the same EUS. Patients and Methods: The main outcomes of the study were the sample adequacy of each method to provide a final pathological diagnosis, and the concordance in diagnosis between core and FNA specimens. The secondary outcomes were the sensitivity and specificity of the findings for each needle and the incremental yield of using both needles compared with …


The Bruton Tyrosine Kinase Inhibitor Ibrutinib With Chemoimmunotherapy In Patients With Chronic Lymphocytic Leukemia, J. R. Brown, J. C. Barrientos, P. M. Barr, I. W. Flinn, J. A. Burger, A. Tran, F. Clow, D. F. James, K. Rai, S. O'Brien, +2 Additional Authors Jan 2015

The Bruton Tyrosine Kinase Inhibitor Ibrutinib With Chemoimmunotherapy In Patients With Chronic Lymphocytic Leukemia, J. R. Brown, J. C. Barrientos, P. M. Barr, I. W. Flinn, J. A. Burger, A. Tran, F. Clow, D. F. James, K. Rai, S. O'Brien, +2 Additional Authors

Journal Articles

The safety and efficacy of ibrutinib, an oral inhibitor of Bruton tyrosine kinase, were evaluated with chemoimmunotherapy (CIT) in a multicenter phase 1b study. Patients with relapsed/refractory chronic lymphocytic leukemia received bendamustine and rituximab (BR) or fludarabine, cyclophosphamide, and rituximab (FCR) for up to 6 cycles with daily ibrutinib (420 mg) until progressive disease or unacceptable toxicity. Enrollment to FCR-ibrutinib closed early due to a lack of fludarabine-naive previously treated patients. No patients treated with BR-ibrutinib (n = 30) or FCR-ibrutinib (n = 3) experienced prolonged hematologic toxicity in cycle 1 (primary end point). Tolerability was as expected with either …


Anti-C1q Antibodies In Systemic Lupus Erythematosus, A. M. Orbai, L. Truedsson, G. Sturfelt, O. Nived, H. Fang, G. S. Alarcon, C. Gordon, J. Merrill, C. Aranow, M. Petri, +43 Additional Authors Jan 2015

Anti-C1q Antibodies In Systemic Lupus Erythematosus, A. M. Orbai, L. Truedsson, G. Sturfelt, O. Nived, H. Fang, G. S. Alarcon, C. Gordon, J. Merrill, C. Aranow, M. Petri, +43 Additional Authors

Journal Articles

OBJECTIVE: Anti-C1q has been associated with systemic lupus erythematosus (SLE) and lupus nephritis in previous studies. We studied anti-C1q specificity for SLE (vs rheumatic disease controls) and the association with SLE manifestations in an international multicenter study. METHODS: Information and blood samples were obtained in a cross-sectional study from patients with SLE (n = 308) and other rheumatologic diseases (n = 389) from 25 clinical sites (84% female, 68% Caucasian, 17% African descent, 8% Asian, 7% other). IgG anti-C1q against the collagen-like region was measured by ELISA. RESULTS: Prevalence of anti-C1q was 28% (86/308) in patients with SLE and 13% …


Clinical And Genomic Heterogeneity Of Diamond Blackfan Anemia In The Russian Federation, N. S. Smetanina, I. V. Mersiyanova, M. A. Kurnikova, G. S. Ovsyannikova, L. A. Hachatryan, V. O. Bobrynina, M. A. Maschan, G. A. Novichkova, J. M. Lipton, A. A. Maschan Jan 2015

Clinical And Genomic Heterogeneity Of Diamond Blackfan Anemia In The Russian Federation, N. S. Smetanina, I. V. Mersiyanova, M. A. Kurnikova, G. S. Ovsyannikova, L. A. Hachatryan, V. O. Bobrynina, M. A. Maschan, G. A. Novichkova, J. M. Lipton, A. A. Maschan

Journal Articles

BackgroundDiamond Blackfan anemia (DBA) is a genetically and clinically heterogeneous ribosomopathy and inherited bone marrow failure syndrome characterized by anemia, reticulocytopenia, and decreased erythroid precursors in the bone marrow with an increased risk of malignancy and, in approximately 50%, physical abnormalities. MethodsWe retrospectively analyzed clinical data from 77 patients with DBA born in the Russian Federation from 1993 to 2014. In 74 families there was one clinically affected individual; in only three instances a multiplex family was identified. Genomic DNA from 57 DBA patients and their first-degree relatives was sequenced for mutations in RPS19, RPS10, RPS24, RPS26, RPS7, RPS17, RPL5, …


Dissecting Allele Architecture Of Early Onset Ibd Using High-Density Genotyping, D. J. Cutler, M. E. Zwick, D. T. Okou, S. Prahalad, T. Walters, S. L. Guthery, M. Dubinsky, R. Baldassano, J. Markowitz, S. Kugathasan, +24 Additional Authors Jan 2015

Dissecting Allele Architecture Of Early Onset Ibd Using High-Density Genotyping, D. J. Cutler, M. E. Zwick, D. T. Okou, S. Prahalad, T. Walters, S. L. Guthery, M. Dubinsky, R. Baldassano, J. Markowitz, S. Kugathasan, +24 Additional Authors

Journal Articles

BACKGROUND: The inflammatory bowel diseases (IBD) are common, complex disorders in which genetic and environmental factors are believed to interact leading to chronic inflammatory responses against the gut microbiota. Earlier genetic studies performed in mostly adult population of European descent identified 163 loci affecting IBD risk, but most have relatively modest effect sizes, and altogether explain only ~20% of the genetic susceptibility. Pediatric onset represents about 25% of overall incident cases in IBD, characterized by distinct disease physiology, course and risks. The goal of this study is to compare the allelic architecture of early onset IBD with adult onset in …


The Impact Of Disease Duration On Quality Of Life In Children With Nephrotic Syndrome: A Midwest Pediatric Nephrology Consortium Study, D. T. Selewski, J. P. Troost, S. F. Massengill, R. A. Gbadegesin, L. A. Greenbaum, I. F. Shatat, Y. Cai, G. Kapur, C. B. Sethna, D. S. Gipson, +13 Additional Authors Jan 2015

The Impact Of Disease Duration On Quality Of Life In Children With Nephrotic Syndrome: A Midwest Pediatric Nephrology Consortium Study, D. T. Selewski, J. P. Troost, S. F. Massengill, R. A. Gbadegesin, L. A. Greenbaum, I. F. Shatat, Y. Cai, G. Kapur, C. B. Sethna, D. S. Gipson, +13 Additional Authors

Journal Articles

BACKGROUND: The Patient Reported Outcomes Measurement Information System (PROMIS) II is a prospective study that evaluates patient reported outcomes in pediatric chronic diseases as a measure of health-related quality of life (HRQOL). We have evaluated the influence of disease duration on HRQOL and, for the first time, compared the findings of the PROMIS measures to those of the PedsQL 4.0 Generic Scales (PedsQL) from the PROMIS II nephrotic syndrome (NS) longitudinal cohort. METHODS: This was a prospective study in which 127 children (age range 8-17 years) with active NS from 14 centers were enrolled. Children with active NS defined as …


Mitochondrial Dysfunction In Peripheral Blood Mononuclear Cells In Pediatric Septic Shock, S. L. Weiss, M. A. Selak, F. Tuluc, J. Perales Villarroel, V. M. Nadkarni, C. S. Deutschman, L. B. Becker Jan 2015

Mitochondrial Dysfunction In Peripheral Blood Mononuclear Cells In Pediatric Septic Shock, S. L. Weiss, M. A. Selak, F. Tuluc, J. Perales Villarroel, V. M. Nadkarni, C. S. Deutschman, L. B. Becker

Journal Articles

OBJECTIVES: Mitochondrial dysfunction in peripheral blood mononuclear cells has been linked to immune dysregulation and organ failure in adult sepsis, but pediatric data are limited. We hypothesized that pediatric septic shock patients exhibit mitochondrial dysfunction within peripheral blood mononuclear cells which in turn correlates with global organ injury. DESIGN: Prospective observational study. SETTING: Academic PICU. PATIENTS: Thirteen pediatric patients with septic shock and greater than or equal to two organ failures and 11 PICU controls without sepsis or organ failure. INTERVENTIONS: Ex vivo measurements of mitochondrial oxygen consumption and membrane potential (DeltaPsim) were performed in intact peripheral blood mononuclear cells …


Non Alcoholic Fatty Liver Disease In A Case Of Kabuki Syndrome, A. Jain, M. See Jan 2015

Non Alcoholic Fatty Liver Disease In A Case Of Kabuki Syndrome, A. Jain, M. See

Journal Articles

No abstract provided.


Population Pharmacokinetics Of Darbepoetin Alfa In Conjunction With Hypothermia For The Treatment Of Neonatal Hypoxic-Ischemic Encephalopathy, J. K. Roberts, C. Stockmann, R. M. Ward, J. Beachy, M. C. Baserga, M. G. Spigarelli, C. M. Sherwin Jan 2015

Population Pharmacokinetics Of Darbepoetin Alfa In Conjunction With Hypothermia For The Treatment Of Neonatal Hypoxic-Ischemic Encephalopathy, J. K. Roberts, C. Stockmann, R. M. Ward, J. Beachy, M. C. Baserga, M. G. Spigarelli, C. M. Sherwin

Journal Articles

AIM: The aim of this study was to determine the population pharmacokinetics of darbepoetin alfa in hypothermic neonates with hypoxic-ischemic encephalopathy treated with hypothermia. METHODS: Neonates >/=36 weeks gestation andrandomized, multicenter, investigational, new drug pharmacokinetic study. Two intravenous darbepoetin alfa treatment groups were evaluated: 2 and 10 microg/kg. Serum erythropoietin concentrations were measured using an enzyme-linked immunosorbent assay. Monolix 4.3.1 was used to estimate darbepoetin alfa clearance and volume of distribution. Covariates tested included: birthweight, gestational age, postnatal age, postmenstrual age, sex, Sarnat score, and study site. RESULTS: Darbepoetin alfa pharmacokinetics were well described by a one-compartment model with exponential …


Protocolized Sedation Vs Usual Care In Pediatric Patients Mechanically Ventilated For Acute Respiratory Failure: A Randomized Clinical Trial, M. A. Curley, D. Wypij, R. S. Watson, M. J. Grant, L. A. Asaro, I. M. Cheifetz, B. L. Dodson, L. S. Franck, R. G. Gedeit, J. Schneider, +2 Additional Authors Jan 2015

Protocolized Sedation Vs Usual Care In Pediatric Patients Mechanically Ventilated For Acute Respiratory Failure: A Randomized Clinical Trial, M. A. Curley, D. Wypij, R. S. Watson, M. J. Grant, L. A. Asaro, I. M. Cheifetz, B. L. Dodson, L. S. Franck, R. G. Gedeit, J. Schneider, +2 Additional Authors

Journal Articles

IMPORTANCE: Protocolized sedation improves clinical outcomes in critically ill adults, but its effect in children is unknown. OBJECTIVE: To determine whether critically ill children managed with a nurse-implemented, goal-directed sedation protocol experience fewer days of mechanical ventilation than patients receiving usual care. DESIGN, SETTING, AND PARTICIPANTS: Cluster randomized trial conducted in 31 US pediatric intensive care units (PICUs). A total of 2449 children (mean age, 4.7 years; range, 2 weeks to 17 years) mechanically ventilated for acute respiratory failure were enrolled in 2009-2013 and followed up until 72 hours after opioids were discontinued, 28 days, or hospital discharge. INTERVENTION: Intervention …


Safety And Efficacy Of Belimumab To Treat Systemic Lupus Erythematosus In Academic Clinical Practices, J. S. Hui-Yuen, A. Reddy, J. Taylor, X. Li, A. H. Eichenfield, L. M. Bermudez, A. J. Starr, L. F. Imundo, R. A. Furie, A. Askanase, +7 Additional Authors Jan 2015

Safety And Efficacy Of Belimumab To Treat Systemic Lupus Erythematosus In Academic Clinical Practices, J. S. Hui-Yuen, A. Reddy, J. Taylor, X. Li, A. H. Eichenfield, L. M. Bermudez, A. J. Starr, L. F. Imundo, R. A. Furie, A. Askanase, +7 Additional Authors

Journal Articles

No abstract provided.


Use Of Serogroup B Meningococcal Vaccines In Adolescents And Young Adults: Recommendations Of The Advisory Committee On Immunization Practices, 2015, J. R. Macneil, L. Rubin, T. Folaranmi, I. R. Ortega-Sanchez, M. Patel, S. W. Martin Jan 2015

Use Of Serogroup B Meningococcal Vaccines In Adolescents And Young Adults: Recommendations Of The Advisory Committee On Immunization Practices, 2015, J. R. Macneil, L. Rubin, T. Folaranmi, I. R. Ortega-Sanchez, M. Patel, S. W. Martin

Journal Articles

At its June 2015 meeting, the Advisory Committee on Immunization Practices (ACIP) recommended that adolescents and young adults aged 16-23 years may be vaccinated with a serogroup B meningococcal (MenB) vaccine to provide short-term protection against most strains of serogroup B meningococcal disease. This report summarizes the deliberations of ACIP, the rationale for its decision, and recommendations for use of MenB vaccines in adolescents and young adults. Two MenB vaccines have recently been licensed by the Food and Drug Administration (FDA) for use in the United States and approved for use in persons aged 10-25 years: MenB-FHbp (Trumenba, Wyeth Pharmaceuticals, …