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Comparing The Experiences And Withdrawal Considerations Of Treatment And Regular Foster Care Parents: The Canadian Perspective, Jessica Smith, Susan Rodger, Jason Brown, Laurel E. Pickel, Wendy Den Dunnen, Alan W. Leschied Dr.
Comparing The Experiences And Withdrawal Considerations Of Treatment And Regular Foster Care Parents: The Canadian Perspective, Jessica Smith, Susan Rodger, Jason Brown, Laurel E. Pickel, Wendy Den Dunnen, Alan W. Leschied Dr.
Journal Articles
This study investigated differences in the experiences of Canadian foster parents providing regular and treatment foster care and their consideration to withdraw from their position. Survey responses from 852 foster parents were analyzed subsequent to separating the participants into two groups based on the primary type of care they provided (regular N = 454; treatment N = 398). Results revealed that treatment foster care parents considered withdrawing at a higher rate compared to regular foster care parents. Subsequent analysis revealed numerous differences between the two groups regarding foster parents’ experiences in fostering and reasons to withdraw. The results are discussed …
Parkinson's Disease-Related Spatial Covariance Pattern Identified With Resting-State Functional Mri, T. Wu, Y. Ma, Z. Zheng, S. Peng, X. Wu, D. Eidelberg, P. Chan
Parkinson's Disease-Related Spatial Covariance Pattern Identified With Resting-State Functional Mri, T. Wu, Y. Ma, Z. Zheng, S. Peng, X. Wu, D. Eidelberg, P. Chan
Journal Articles
In this study, we sought to identify a disease-related spatial covariance pattern of spontaneous neural activity in Parkinson's disease using resting-state functional magnetic resonance imaging (MRI). Time-series data were acquired in 58 patients with early to moderate stage Parkinson's disease and 54 healthy controls, and analyzed by Scaled Subprofile Model Principal Component Analysis toolbox. A split-sample analysis was also performed in a derivation sample of 28 patients and 28 control subjects and validated in a prospective testing sample of 30 patients and 26 control subjects. The topographic pattern of neural activity in Parkinson's disease was characterized by decreased activity in …
Mesothelioma Patients With Germline Bap1 Mutations Have 7-Fold Improved Long-Term Survival, F. Baumann, E. Flores, A. Napolitano, S. Kanodia, E. Taioli, H. Pass, H. Yang, M. Carbone
Mesothelioma Patients With Germline Bap1 Mutations Have 7-Fold Improved Long-Term Survival, F. Baumann, E. Flores, A. Napolitano, S. Kanodia, E. Taioli, H. Pass, H. Yang, M. Carbone
Journal Articles
BRCA1-associated protein-1 (BAP1) mutations cause a new cancer syndrome, with a high rate of malignant mesothelioma (MM). Here, we tested the hypothesis that MM associated with germline BAP1 mutations has a better prognosis compared with sporadic MM. We compared survival among germline BAP1 mutation MM patients with that of all MM (N = 10 556) recorded in the United States Surveillance, Epidemiology, and End Results (SEER) data from 1973 to 2010. We identified 23 MM patients-11 alive-with germline BAP1 mutations and available data on survival. Ten patients had peritoneal MM, ten pleural MM and three MM in both locations. Thirteen …
The Glass Is Half Full: Evidence For Efficacy Of Alcohol-Wise At One University But Not The Other, K. Croom, L. Staiano-Coico, M. Lesser, D. K. Lewis, V. F. Reyna, T. C. Marchell, J. Frank, S. Ives
The Glass Is Half Full: Evidence For Efficacy Of Alcohol-Wise At One University But Not The Other, K. Croom, L. Staiano-Coico, M. Lesser, D. K. Lewis, V. F. Reyna, T. C. Marchell, J. Frank, S. Ives
Journal Articles
This research extends the growing literature about online alcohol prevention programs for first-year college students. Two independent randomized control studies, conducted at separate universities, evaluated the short-term effectiveness of Alcohol-Wise, an online alcohol prevention program not previously studied. It was hypothesized the prevention program would increase alcohol knowledge and reduce alcohol consumption, including high-risk alcohol-related behaviors, among first-year college students. At both universities, the intervention significantly increased alcohol-related knowledge. At one university, the prevention program also significantly reduced alcohol consumption and high-risk drinking behaviors, such as playing drinking games, heavy drinking, and extreme ritualistic alcohol consumption. Implications for the use …
Interest In Bariatric Surgery Among Obese Patients With Obstructive Sleep Apnea, K. A. Dudley, A. Tavakkoli, R. A. Andrews, A. N. Seiger, J. P. Bakker, S. R. Patel
Interest In Bariatric Surgery Among Obese Patients With Obstructive Sleep Apnea, K. A. Dudley, A. Tavakkoli, R. A. Andrews, A. N. Seiger, J. P. Bakker, S. R. Patel
Journal Articles
BACKGROUND: Standard obstructive sleep apnea (OSA) therapies are poorly tolerated. Bariatric surgery is a potential alternative but the level of interest in this intervention among OSA patients is unknown. OBJECTIVES: Determine the proportion of OSA patients who would be interested in bariatric surgery. SETTING: Sleep clinics, United States. METHODS: Consecutive adult patients with untreated severe OSA and a body mass index of 35-45 kg/m2 were approached. Patients at low perioperative risk and no urgent indication for OSA treatment were invited to a separate informational visit about bariatric surgery as primary treatment for OSA. RESULTS: Of 767 eligible patients, 230 (30.0%) …
An Innovative Interactive Modeling Tool To Analyze Scenario-Based Physician Workforce Supply And Demand, S. Gupta, W. S. Black-Schaffer, J. M. Crawford, D. Gross, D. S. Karcher, J. Kaufman, D. Knapman, S. Weintraub, M. B. Cohen, S. J. Robboy, +8 Additional Authors
An Innovative Interactive Modeling Tool To Analyze Scenario-Based Physician Workforce Supply And Demand, S. Gupta, W. S. Black-Schaffer, J. M. Crawford, D. Gross, D. S. Karcher, J. Kaufman, D. Knapman, S. Weintraub, M. B. Cohen, S. J. Robboy, +8 Additional Authors
Journal Articles
Effective physician workforce management requires that the various organizations comprising the House of Medicine be able to assess their current and future workforce supply. This information has direct relevance to funding of graduate medical education. We describe a dynamic modeling tool that examines how individual factors and practice variables can be used to measure and forecast the supply and demand for existing and new physician services. The system we describe, while built to analyze the pathologist workforce, is sufficiently broad and robust for use in any medical specialty. Our design provides a computer-based software model populated with data from surveys …
Negative Symptoms And Impaired Social Functioning Predict Later Psychosis In Latino Youth At Clinical High Risk In The North American Prodromal Longitudinal Studies Consortium, Tracy Alderman, Jean Addington, Carrie Bearden, Tyrone D. Cannon, B. A. Cornblatt, Thomas H. Mcglashan, Diana O. Perkins, Elaine F. Walker, Scott W. Woods, Kristin S. Cadenhead, +2 Additional Authors
Negative Symptoms And Impaired Social Functioning Predict Later Psychosis In Latino Youth At Clinical High Risk In The North American Prodromal Longitudinal Studies Consortium, Tracy Alderman, Jean Addington, Carrie Bearden, Tyrone D. Cannon, B. A. Cornblatt, Thomas H. Mcglashan, Diana O. Perkins, Elaine F. Walker, Scott W. Woods, Kristin S. Cadenhead, +2 Additional Authors
Journal Articles
No abstract provided.
Alcohol Confounds Relationship Between Cannabis Misuse And Psychosis Conversion In A High-Risk Sample, A. M. Auther, K. S. Cadenhead, R. E. Carrion, J. Addington, C. E. Bearden, T. D. Cannon, T. H. Mcglashan, E. F. Walker, S. W. Woods, B. A. Cornblatt, +3 Additional Authors
Alcohol Confounds Relationship Between Cannabis Misuse And Psychosis Conversion In A High-Risk Sample, A. M. Auther, K. S. Cadenhead, R. E. Carrion, J. Addington, C. E. Bearden, T. D. Cannon, T. H. Mcglashan, E. F. Walker, S. W. Woods, B. A. Cornblatt, +3 Additional Authors
Journal Articles
ObjectiveCannabis use has been examined as a predictor of psychosis in clinical high-risk (CHR) samples, but little is known about the impact of other substances on this relationship. MethodSubstance use was assessed in a large sample of CHR participants (N=370, mean age=18.3) enrolled in the multisite North American Prodrome Longitudinal Study Phase 1 project. Three hundred and forty-one participants with cannabis use data were divided into groups: No Use (NU, N=211); Cannabis Use without impairment (CU, N=63); Cannabis Abuse/Dependence (CA/CD, N=67). Participants (N=283) were followed for 2years to determine psychosis conversion. ResultsAlcohol (45.3%) and cannabis (38.1%) were the most common …
Interpersonal Functioning In Obsessive-Compulsive Personality Disorder, N. M. Cain, E. B. Ansell, H. B. Simpson, A. Pinto
Interpersonal Functioning In Obsessive-Compulsive Personality Disorder, N. M. Cain, E. B. Ansell, H. B. Simpson, A. Pinto
Journal Articles
The core symptoms of obsessive-compulsive personality disorder (OCPD) often lead to interpersonal difficulties. However, little research has explored interpersonal functioning in OCPD. This study examined interpersonal problems, interpersonal sensitivities, empathy, and systemizing, the drive to analyze and derive underlying rules for systems, in a sample of 25 OCPD individuals, 25 individuals with comorbid OCPD and obsessive-compulsive disorder (OCD), and 25 healthy controls. We found that OCPD individuals reported hostile-dominant interpersonal problems and sensitivities with warm-dominant behavior by others, whereas OCPD+OCD individuals reported submissive interpersonal problems and sensitivities with warm-submissive behavior by others. Individuals with OCPD, with and without OCD, reported …
A Common Polymorphism In Scn2a Predicts General Cognitive Ability Through Effects On Pfc Physiology, M. A. Scult, J. W. Trampush, F. Zheng, E. D. Conley, T. Lencz, A. K. Malhotra, D. Dickinson, D. R. Weinberger, A. R. Hariri
A Common Polymorphism In Scn2a Predicts General Cognitive Ability Through Effects On Pfc Physiology, M. A. Scult, J. W. Trampush, F. Zheng, E. D. Conley, T. Lencz, A. K. Malhotra, D. Dickinson, D. R. Weinberger, A. R. Hariri
Journal Articles
Here we provide novel convergent evidence across three independent cohorts of healthy adults (n = 531), demonstrating that a common polymorphism in the gene encoding the alpha2 subunit of neuronal voltage-gated type II sodium channels (SCN2A) predicts human general cognitive ability or "g." Using meta-analysis, we demonstrate that the minor T allele of a common polymorphism (rs10174400) in SCN2A is associated with significantly higher "g" independent of gender and age. We further demonstrate using resting-state fMRI data from our discovery cohort (n = 236) that this genetic advantage may be mediated by increased capacity for information processing between the dorsolateral …
Demographic Correlates Of Attenuated Positive Psychotic Symptoms, R. N. Waford, A. Macdonald, K. S. Cadenhead, T. D. Cannon, B. A. Cornblatt, R. Heinssen, D. O. Perkins, L. J. Seidman, S. W. Woods, T. H. Mcglashan, +8 Additional Authors
Demographic Correlates Of Attenuated Positive Psychotic Symptoms, R. N. Waford, A. Macdonald, K. S. Cadenhead, T. D. Cannon, B. A. Cornblatt, R. Heinssen, D. O. Perkins, L. J. Seidman, S. W. Woods, T. H. Mcglashan, +8 Additional Authors
Journal Articles
It is now well established that the utilization of standardized clinical criteria can enhance prediction of psychosis. These criteria are primarily concerned with the presence and severity of attenuated positive symptoms. Because these symptom criteria are used to derive algorithms for designating clinical high risk (CHR) status and for maximizing prediction of psychosis risk, it is important to know whether the symptom ratings vary as a function of demographic factors that have previously been linked with symptoms in diagnosed psychotic patients. Using a sample of 356 CHR individuals from the NAPLS-II multi-site study, we examined the relation of three sex, …
Clinical And Functional Outcomes After 2 Years In The Early Detection And Intervention For The Prevention Of Psychosis Multisite Effectiveness Trial, W. R. Mcfarlane, B. Levin, L. Travis, F. L. Lucas, S. Lynch, M. Verdi, Barbara Cornblatt, S. F. Taylor, A. M. Auther, E. Spring, +11 Additional Authors
Clinical And Functional Outcomes After 2 Years In The Early Detection And Intervention For The Prevention Of Psychosis Multisite Effectiveness Trial, W. R. Mcfarlane, B. Levin, L. Travis, F. L. Lucas, S. Lynch, M. Verdi, Barbara Cornblatt, S. F. Taylor, A. M. Auther, E. Spring, +11 Additional Authors
Journal Articles
OBJECTIVE: To test effectiveness of the Early Detection, Intervention, and Prevention of Psychosis Program in preventing the onset of severe psychosis and improving functioning in a national sample of at-risk youth. METHODS: In a risk-based allocation study design, 337 youth (age 12-25) at risk of psychosis were assigned to treatment groups based on severity of positive symptoms. Those at clinically higher risk (CHR) or having an early first episode of psychosis (EFEP) were assigned to receive Family-aided Assertive Community Treatment (FACT); those at clinically lower risk (CLR) were assigned to receive community care. Between-groups differences on outcome variables were adjusted …
Association Of Meniscal Status, Lower Extremity Alignment, And Body Mass Index With Chondrosis At Revision Anterior Cruciate Ligament Reconstruction, R. H. Brophy, A. K. Haas, L. J. Huston, S. K. Nwosu, R. W. Wright, E. Hershman
Association Of Meniscal Status, Lower Extremity Alignment, And Body Mass Index With Chondrosis At Revision Anterior Cruciate Ligament Reconstruction, R. H. Brophy, A. K. Haas, L. J. Huston, S. K. Nwosu, R. W. Wright, E. Hershman
Journal Articles
BACKGROUND: Knees undergoing revision anterior cruciate ligament reconstruction (rACLR) have a high prevalence of articular cartilage lesions. HYPOTHESIS: The prevalence of chondrosis at the time of rACLR is associated with meniscal status and lower extremity alignment. STUDY DESIGN: Cross-sectional study; Level of evidence, 3. METHODS: Data from the prospective Multicenter ACL Revision Study (MARS) cohort were reviewed to identify patients with preoperative lower extremity alignment films. Lower extremity alignment was defined by the weightbearing line (WBL) as a percentage of the tibial plateau width, while the chondral and meniscal status of each weightbearing compartment was recorded at the time of …
Multirater Agreement Of The Causes Of Anterior Cruciate Ligament Reconstruction Failure: A Radiographic And Video Analysis Of The Mars Cohort, M. J. Matava, R. A. Arciero, K. M. Baumgarten, J. A. Hannafin, B. S. Miller, C. W. Nissen, T. N. Taft, B. R. Wolf, E. B. Hershman, R. W. Wright, +3 Additional Authors
Multirater Agreement Of The Causes Of Anterior Cruciate Ligament Reconstruction Failure: A Radiographic And Video Analysis Of The Mars Cohort, M. J. Matava, R. A. Arciero, K. M. Baumgarten, J. A. Hannafin, B. S. Miller, C. W. Nissen, T. N. Taft, B. R. Wolf, E. B. Hershman, R. W. Wright, +3 Additional Authors
Journal Articles
BACKGROUND: Anterior cruciate ligament (ACL) reconstruction failure occurs in up to 10% of cases. Technical errors are considered the most common cause of graft failure despite the absence of validated studies. Limited data are available regarding the agreement among orthopaedic surgeons regarding the causes of primary ACL reconstruction failure and accuracy of graft tunnel placement. HYPOTHESIS: Experienced knee surgeons have a high level of interobserver reliability in the agreement about the causes of primary ACL reconstruction failure, anatomic graft characteristics, and tunnel placement. STUDY DESIGN: Cohort study (diagnosis); Level of evidence, 3. METHODS: Twenty cases of revision ACL reconstruction were …
Carotid Artery Stenosis: Cost-Effectiveness Of Assessment Of Cerebrovascular Reserve To Guide Treatment Of Asymptomatic Patients, A. Pandya, A. Gupta, H. Kamel, B. B. Navi, P. C. Sanelli, B. R. Schackman
Carotid Artery Stenosis: Cost-Effectiveness Of Assessment Of Cerebrovascular Reserve To Guide Treatment Of Asymptomatic Patients, A. Pandya, A. Gupta, H. Kamel, B. B. Navi, P. C. Sanelli, B. R. Schackman
Journal Articles
PURPOSE: To project and compare the lifetime health benefits, health care costs, and incremental cost-effectiveness of a decision rule based on assessment of cerebrovascular reserve (CVR) compared with medical therapy and immediate revascularization in asymptomatic patients with carotid artery stenosis for prevention of stroke. MATERIALS AND METHODS: The three strategies compared included immediate revascularization (carotid endarterectomy) and ongoing medical therapy (with antiplatelet, statin, and antihypertensive agents plus lifestyle modification), medical therapy-based treatment with revascularization only for patients who progressed, and use of a CVR-based decision rule for treatment in which patients with CVR impairment undergo immediate revascularization and all others …
The Orbit Bleeding Score: A Simple Bedside Score To Assess Bleeding Risk In Atrial Fibrillation, E. C. O'Brien, D. N. Simon, L. E. Thomas, E. M. Hylek, B. J. Gersh, J. E. Ansell, P. R. Kowey, K. W. Mahaffey, P. Chang, E. D. Peterson, +3 Additional Authors
The Orbit Bleeding Score: A Simple Bedside Score To Assess Bleeding Risk In Atrial Fibrillation, E. C. O'Brien, D. N. Simon, L. E. Thomas, E. M. Hylek, B. J. Gersh, J. E. Ansell, P. R. Kowey, K. W. Mahaffey, P. Chang, E. D. Peterson, +3 Additional Authors
Journal Articles
BACKGROUND: Therapeutic decisions in atrial fibrillation (AF) are often influenced by assessment of bleeding risk. However, existing bleeding risk scores have limitations. OBJECTIVES: We sought to develop and validate a novel bleeding risk score using routinely available clinical information to predict major bleeding in a large, community-based AF population. METHODS: We analysed data from Outcomes Registry for Better Informed Treatment of Atrial Fibrillation (ORBIT-AF), a prospective registry that enrolled incident and prevalent AF patients at 176 US sites. Using Cox proportional hazards regression, we identified factors independently associated with major bleeding among patients taking oral anticoagulation (OAC) over a median …
Harvest, A Longitudinal Patient Record Summarizer, J. S. Hirsch, J. S. Tanenbaum, S. Lipsky Gorman, C. Liu, E. Schmitz, D. Hashorva, A. Ervits, D. Vawdrey, M. Sturm, N. Elhadad
Harvest, A Longitudinal Patient Record Summarizer, J. S. Hirsch, J. S. Tanenbaum, S. Lipsky Gorman, C. Liu, E. Schmitz, D. Hashorva, A. Ervits, D. Vawdrey, M. Sturm, N. Elhadad
Journal Articles
OBJECTIVE: To describe HARVEST, a novel point-of-care patient summarization and visualization tool, and to conduct a formative evaluation study to assess its effectiveness and gather feedback for iterative improvements. MATERIALS AND METHODS: HARVEST is a problem-based, interactive, temporal visualization of longitudinal patient records. Using scalable, distributed natural language processing and problem salience computation, the system extracts content from the patient notes and aggregates and presents information from multiple care settings. Clinical usability was assessed with physician participants using a timed, task-based chart review and questionnaire, with performance differences recorded between conditions (standard data review system and HARVEST). RESULTS: HARVEST displays …
Association Of Prenatal Perchlorate, Thiocyanate, And Nitrate Exposure With Neonatal Size And Gestational Age, K. A. Evans, D. Q. Rich, B. Weinberger, A. M. Vetrano, L. Valentin-Blasini, P. O. Strickland, B. C. Blount
Association Of Prenatal Perchlorate, Thiocyanate, And Nitrate Exposure With Neonatal Size And Gestational Age, K. A. Evans, D. Q. Rich, B. Weinberger, A. M. Vetrano, L. Valentin-Blasini, P. O. Strickland, B. C. Blount
Journal Articles
BACKGROUND: Perchlorate and similar anions compete with iodine for uptake into the thyroid by the sodium iodide symporter (NIS). This may restrict fetal growth via impaired thyroid hormone production. METHODS: We collected urine samples from 107 pregnant women and used linear regression to estimate differences in newborn size and gestational age associated with increases in perchlorate, thiocyanate, nitrate, and perchlorate equivalence concentrations (PEC; measure of total NIS inhibitor exposure). RESULTS: NIS inhibitor concentrations were not associated with newborn weight, length, or gestational age. Each 2.62ng/mug creatinine increase in perchlorate was associated with smaller head circumference (0.32cm; 95% CI: -0.66, 0.01), …
Congenital Adrenal Hyperplasia, P. W. Speiser
Congenital Adrenal Hyperplasia, P. W. Speiser
Journal Articles
Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries updating research and practical guidelines for this condition. The purposes of this review are to summarize basic information defining congenital adrenal hyperplasia and to highlight current knowledge and controversies in management.
Comparing Segmented Asl Perfusion Of Vascular Territories Using Manual Versus Semiautomated Techniques In Children With Sickle Cell Anemia, K. J. Helton, J. O. Glass, W. E. Reddick, A. Paydar, A. R. Zandieh, R. Dave, M. P. Smeltzer, S. Wu, B. Aygun, R. J. Ogg, +1 Additional Author
Comparing Segmented Asl Perfusion Of Vascular Territories Using Manual Versus Semiautomated Techniques In Children With Sickle Cell Anemia, K. J. Helton, J. O. Glass, W. E. Reddick, A. Paydar, A. R. Zandieh, R. Dave, M. P. Smeltzer, S. Wu, B. Aygun, R. J. Ogg, +1 Additional Author
Journal Articles
PURPOSE: Elevated cerebral blood flow (CBF) in sickle cell anemia (SCA) is an adaptive pathophysiologic response associated with decreased vascular reserve and increased risk for ischemia. We compared manual (M) and semiautomated (SA) vascular territory delineation to facilitate standardized evaluation of CBF in children with SCA. MATERIALS AND METHODS: ASL perfusion values from 21 children were compared for gray matter and white matter (WM) in vascular territories defined by M and SA delineation. SA delineated CBF was compared with clinical and hematologic variables acquired within 4 weeks of the MRI. RESULTS: CBF measurements from M (MCA 82 left, 79 right) …
Prevention Of Conversion To Abnormal Tcd With Hydroxyurea In Sickle Cell Anemia: A Phase Iii International Randomized Clinical Trial, J. S. Hankins, M. B. Mccarville, A. Rankine-Mullings, M. E. Reid, C. L. Lobo, P. G. Moura, S. Ali, D. Soares, B. Aygun, R. E. Ware, +7 Additional Authors
Prevention Of Conversion To Abnormal Tcd With Hydroxyurea In Sickle Cell Anemia: A Phase Iii International Randomized Clinical Trial, J. S. Hankins, M. B. Mccarville, A. Rankine-Mullings, M. E. Reid, C. L. Lobo, P. G. Moura, S. Ali, D. Soares, B. Aygun, R. E. Ware, +7 Additional Authors
Journal Articles
Children with sickle cell anemia (SCA) and conditional transcranial Doppler (TCD) ultrasound velocities (170-199 cm/sec) may develop stroke. However, with limited available clinical data, the current standard of care for conditional TCD velocities is observation. The efficacy of hydroxyurea in preventing conversion from conditional to abnormal TCD (>/=200 cm/sec), which confers a higher stroke risk, has not been studied prospectively in a randomized trial. Sparing Conversion to Abnormal TCD Elevation (SCATE #NCT01531387) was an NHLBI-funded Phase III multicenter international clinical trial comparing alternative therapy (hydroxyurea) to standard care (observation) to prevent conversion from conditional to abnormal TCD velocity in …
Recurrent Gain Of Function Mutation In Calcium Channel Cacna1h Causes Early-Onset Hypertension With Primary Aldosteronism, U. I. Scholl, G. Stolting, C. Nelson-Williams, A. A. Vichot, M. Choi, E. Loring, M. L. Prasad, G. Goh, C. B. Sethna, R. P. Lifton, +11 Additional Authors
Recurrent Gain Of Function Mutation In Calcium Channel Cacna1h Causes Early-Onset Hypertension With Primary Aldosteronism, U. I. Scholl, G. Stolting, C. Nelson-Williams, A. A. Vichot, M. Choi, E. Loring, M. L. Prasad, G. Goh, C. B. Sethna, R. P. Lifton, +11 Additional Authors
Journal Articles
Many Mendelian traits are likely unrecognized owing to absence of traditional segregation patterns in families due to causation by de novo mutations, incomplete penetrance, and/or variable expressivity. Genome-level sequencing can overcome these complications. Extreme childhood phenotypes are promising candidates for new Mendelian traits. One example is early onset hypertension, a rare form of a global cause of morbidity and mortality. We performed exome sequencing of 40 unrelated subjects with hypertension due to primary aldosteronism by age 10. Five subjects (12.5%) shared the identical, previously unidentified, heterozygous CACNA1H(M1549V) mutation. Two mutations were demonstrated to be de novo events, and all mutations …
Safety And Clinical Activity Of Elosulfase Alfa In Pediatric Patients With Morquio A Syndrome (Mucopolysaccharidosis Iva) Less Than 5 Years, S. A. Jones, M. Bialer, R. Parini, K. Martin, H. Wang, K. Yang, A. J. Shaywitz, P. Harmatz
Safety And Clinical Activity Of Elosulfase Alfa In Pediatric Patients With Morquio A Syndrome (Mucopolysaccharidosis Iva) Less Than 5 Years, S. A. Jones, M. Bialer, R. Parini, K. Martin, H. Wang, K. Yang, A. J. Shaywitz, P. Harmatz
Journal Articles
BACKGROUND: Previous studies have shown that elosulfase alfa has a favorable efficacy/safety profile in Morquio A patients aged >/=5 years. This study evaluated safety and impact on urine keratan sulfate (uKS) levels and growth velocity in younger patients. METHODS: Fifteen Morquio A patients aged/kg/week for 52 weeks during the primary treatment phase of a phase II, open-label, multinational study. Primary endpoint was safety and tolerability, secondary endpoints were change in uKS and growth velocity over 52 weeks. RESULTS: All 15 patients completed the primary treatment phase. Six of 743 infusions (0.8%) administered led to adverse events (AEs) requiring infusion interruption …
A Self-Paced Oral Feeding System That Enhances Preterm Infants' Oral Feeding Skills, C. Lau, S. Fucile, R. J. Schanler
A Self-Paced Oral Feeding System That Enhances Preterm Infants' Oral Feeding Skills, C. Lau, S. Fucile, R. J. Schanler
Journal Articles
AIM: Very low birth weight (VLBW) infants have difficulty transitioning to independent oral feeding, be they breast- or bottle-feeding. We developed a 'self-paced' feeding system that eliminates the natural presence of the positive hydrostatic pressure and internal vacuum build-up within a bottle during feeding. Such system enhanced these infants' oral feeding performance as monitored by overall transfer (OT; % ml taken/ml prescribed), rate of transfer (RT; ml/min over an entire feeding). This study hypothesizes that the improvements observed in these infants resulted from their ability to use more mature oral feeding skills (OFS). METHODS: 'Feeders and growers' born between 26-29 …
Impact Of Early Disease Factors On Metabolic Syndrome In Systemic Lupus Erythematosus: Data From An International Inception Cohort, B. Parker, M. B. Urowitz, D. D. Gladman, M. Lunt, R. Donn, S. C. Bae, J. Sanchez-Guerrero, C. Aranow, M. Mackay, I. N. Bruce, +30 Additional Authors
Impact Of Early Disease Factors On Metabolic Syndrome In Systemic Lupus Erythematosus: Data From An International Inception Cohort, B. Parker, M. B. Urowitz, D. D. Gladman, M. Lunt, R. Donn, S. C. Bae, J. Sanchez-Guerrero, C. Aranow, M. Mackay, I. N. Bruce, +30 Additional Authors
Journal Articles
BACKGROUND: The metabolic syndrome (MetS) may contribute to the increased cardiovascular risk in systemic lupus erythematosus (SLE). We examined the association between MetS and disease activity, disease phenotype and corticosteroid exposure over time in patients with SLE. METHODS: Recently diagnosed (<15 >months) patients with SLE from 30 centres across 11 countries were enrolled into the Systemic Lupus International Collaborating Clinics (SLICC) Inception Cohort from 2000 onwards. Baseline and annual assessments recorded clinical, laboratory and therapeutic data. A longitudinal analysis of factors associated with MetS in the first 2 years of follow-up was performed using random effects logistic regression. RESULTS: We …
A Genetic Study On C5-Traf1 And Progression Of Joint Damage In Rheumatoid Arthritis, H. W. Van Steenbergen, L. Rodriguez-Rodriguez, E. Berglin, A. Zhernakova, R. Knevel, J. Ivorra-Cortes, T. W. J. Huizinga, B. Fernandez-Gutierrez, P. K. Gregersen, A. H. M. Van Der Helm-Van Mil, +1 Additional Author
A Genetic Study On C5-Traf1 And Progression Of Joint Damage In Rheumatoid Arthritis, H. W. Van Steenbergen, L. Rodriguez-Rodriguez, E. Berglin, A. Zhernakova, R. Knevel, J. Ivorra-Cortes, T. W. J. Huizinga, B. Fernandez-Gutierrez, P. K. Gregersen, A. H. M. Van Der Helm-Van Mil, +1 Additional Author
Journal Articles
Introduction: The severity of joint damage progression in rheumatoid arthritis (RA) is heritable. Several genetic variants have been identified, but together explain only part of the total genetic effect. Variants in Interleukin-6 (IL-6), Interleukin-10 (IL-10), C5-TRAF1, and Fc-receptor-like-3 (FCRL3) have been described to associate with radiographic progression, but results of different studies were incongruent. We aimed to clarify associations of these variants with radiographic progression by evaluating six independent cohorts. Methods: In total 5,895 sets of radiographs of 2,493 RA-patients included in six different independent datasets from the Netherlands, Sweden, Spain and North-America were studied in relation to rs1800795 (IL-6), …
Stat5a/B Contribute To Sex Bias In Vascular Disease: A Neuroendocrine Perspective, P.B. Sehgal, Y. Yang, H. Yuan, E.J. Miller
Stat5a/B Contribute To Sex Bias In Vascular Disease: A Neuroendocrine Perspective, P.B. Sehgal, Y. Yang, H. Yuan, E.J. Miller
Journal Articles
No abstract provided.
Development And Preliminary Testing Of Progress: A Web-Based Education Program For Prostate Cancer Survivors Transitioning From Active Treatment, S. M. Miller, S. V. Hudson, S. K. A. Hui, M. A. Diefenbach, L. Fleisher, M. Buyyounouski, C. Denlinger, C. Miyamoto, A. Reese, J. Baman, +6 Additional Authors
Development And Preliminary Testing Of Progress: A Web-Based Education Program For Prostate Cancer Survivors Transitioning From Active Treatment, S. M. Miller, S. V. Hudson, S. K. A. Hui, M. A. Diefenbach, L. Fleisher, M. Buyyounouski, C. Denlinger, C. Miyamoto, A. Reese, J. Baman, +6 Additional Authors
Journal Articles
This formative research study describes the development and preliminary evaluation of a theory-guided, online multimedia psycho-educational program (PROGRESS) designed to facilitate adaptive coping among prostate cancer patients transitioning from treatment into long-term survivorship. Guided by the Cognitive-Social Health Information Processing Model (C-SHIP) and using health communications best practices, we conducted a two-phase, qualitative formative research study with early stage prostate cancer patients (n = 29) to inform the Web program development. Phase 1 included individual (n = 5) and group (n = 12) interviews to help determine intervention content and interface. Phase 2 employed iterative user/usability testing (n = 12) …
Immunological Function Of Blimp-1 In Dendritic Cells And Relevance To Autoimmune Diseases, S. J. Kim
Immunological Function Of Blimp-1 In Dendritic Cells And Relevance To Autoimmune Diseases, S. J. Kim
Journal Articles
Previous studies have identified the immunological functions of transcription factor B lymphocyte-induced maturation protein-1 (Blimp-1) in various adaptive immune cell types such as T and B lymphocytes. More recently, it has been shown that Blimp-1 extends its functional roles to dendritic cells (DCs) and macrophages, two cell types belonging to the innate immune system. The protein acts as a direct and indirect regulator of target genes by recruiting chromatin modification factors and by regulating microRNA expression, respectively. In DCs, Blimp-1 has been identified as one of the components involved in antigen presentation. Genome-wide association studies identified polymorphisms associated with multiple …
Notch Receptor Expression In Human Brain Arteriovenous Malformations, S. Hill-Felberg, H. H. Wu, S. A. Toms, A. R. Dehdashti
Notch Receptor Expression In Human Brain Arteriovenous Malformations, S. Hill-Felberg, H. H. Wu, S. A. Toms, A. R. Dehdashti
Journal Articles
The roles of the Notch pathway proteins in normal adult vascular physiology and the pathogenesis of brain arteriovenous malformations are not well-understood. Notch 1 and 4 have been detected in human and mutant mice vascular malformations respectively. Although mutations in the human Notch 3 gene caused a genetic form of vascular stroke and dementia, its role in arteriovenous malformations development has been unknown. In this study, we performed immunohistochemistry screening on tissue microarrays containing eight surgically resected human brain arteriovenous malformations and 10 control surgical epilepsy samples. The tissue microarrays were evaluated for Notch 1-4 expression. We have found that …