John Carey - Academia.edu (original) (raw)
Papers by John Carey
Bookmarks Related papers MentionsView impact
Perspectives on Politics
Is American democracy under threat? The question is more prominent in political debate now than a... more Is American democracy under threat? The question is more prominent in political debate now than at any time in recent memory. However, it is also too blunt; there is widespread recognition that democracy is multifaceted and that backsliding, when it occurs, tends to be piecemeal. To address these concerns, we provide original data from surveys of political science experts and the public measuring the perceived importance and performance of U.S. democracy on a number of dimensions during the first year-and-a-half of the Trump presidency. We draw on a theory of how politicians may transgress limits on their authority and the conditions under which constraints are self-enforcing. We connect this theory to our survey data in an effort to identify potential areas of agreement—bright lines—among experts and the public about the most important democratic principles and whether they have been violated. Public and expert perceptions often differ on the importance of specific democratic princ...
Bookmarks Related papers MentionsView impact
European Journal of Medical Genetics, 2016
Mycophenolate mofetil (MMF) is probably the most common employed immunosuppressant drug in recipi... more Mycophenolate mofetil (MMF) is probably the most common employed immunosuppressant drug in recipients of solid organ transplant and in many autoimmune diseases. In vitro studies, a significant number of single clinical observations and a recent study from a group of different European teratogen information services, have provided very consistent data supporting the existence of a specific MMF embryopathy. The typical malformative pattern of MMF embryopathy includes external ear anomalies ranging from hypoplastic pinna (microtia) to complete absence of pinna (anotia); cleft lip, with or without cleft palate, and ocular anomalies as iris or chorioretinal coloboma and anophthalmia/microphthalmia. Other less frequent features are congenital heart defects, distal limbs anomalies, esophageal atresia, vertebral malformations, diaphragmatic hernia, and kidney and central nervous system anomalies. Neurodevelopmental outcome seems favorable in the small number of patients where information about this issue is available, but neurological deficits have been documented. Physicians in charge of women under MMF therapy should be aware of the potential risk of this drug to cause a specific embryopathy and the need of interrupting the treatment at least six weeks before becoming pregnant.
Bookmarks Related papers MentionsView impact
American journal of medical genetics. Part A, Jan 23, 2016
In 1994, Braddock and Carey first reported two unrelated girls with a new multiple malformation s... more In 1994, Braddock and Carey first reported two unrelated girls with a new multiple malformation syndrome. The primary features included Pierre Robin sequence, persistent neonatal-onset thrombocytopenia, agenesis of the corpus callosum, a distinctive facies, enamel hypoplasia, and severe developmental delay. Since that time, there have been multiple other reported patients with a similar phenotype. In addition, several reports of thrombocytopenia and developmental delay have been documented in association with deletions in the Down syndrome critical region at 21q22. The similarity of the reported cases with deletions involving 21q22 with the clinical presentation of the two patients with Braddock-Carey syndrome resulted in a reinvestigation of the genetic etiology of these two patients 20 years after the original study. This investigation provides evidence that the etiology of this and other "Fanconi-like" disorders represent a newly recognized contiguous gene deletion synd...
Bookmarks Related papers MentionsView impact
Medicine, Sep 1, 2007
We conducted a retrospective review to assess outcomes of therapy in patients with newly diagnose... more We conducted a retrospective review to assess outcomes of therapy in patients with newly diagnosed Wegener granulomatosis (WG) using methotrexate (MTX) for mild to moderate disease and short-term treatment with cyclophosphamide (CYC) followed by MTX for severe disease. Patients with WG were included if their initial plan of therapy and subsequent care were directly supervised by the Cleveland Clinic Center for Vasculitis Care and Research. Severe disease (immediately life-threatening or involving critical organs) was initially treated with CYC and glucocorticoids. Mild to moderate disease was initially treated with MTX and glucocorticoids if serum creatinine was less than 2 mg/dL. Following initial improvement of severe disease, treatment was changed to MTX if serum creatinine was originally less than 2 mg/dL or had diminished to less than 2 mg/dL. Disease activity was determined at each visit and later converted to a Birmingham Vasculitis Activity Score, as modified for Wegener granulomatosis (BVAS/WG). Laboratory monitoring of disease and treatment toxicity was initially weekly and never less than monthly.Eighty-two (32%) of 253 patients with WG referred to the Center for Vasculitis Care and Research met eligibility criteria. Ineligible patients did not have new-onset disease or were not able to be followed principally in our center. Seventy percent of patients (57/82) initially had severe disease and received a short course of CYC for remission induction. In over half of these patients, illness was judged to be severe because of pulmonary hemorrhage; rapidly progressive glomerulonephritis, including need for dialysis; or neurologic abnormalities. All patients improved: remission was achieved in 50% (41/82) of patients within 6 months and in 72% (59/82) within 12 months. Sustained remission (BVAS/WG = 0 for at least 6 consecutive months) was ultimately achieved in 78% (64/82) of patients. Among the 75 (91%) patients who achieved remission of any duration, 45% relapsed within 1 year and 66% relapsed within 2 years following remission. Eighty-two percent of relapsed patients achieved subsequent remissions after additional treatment. About three-quarters of relapses were mild and promptly responded to treatment. Seventeen percent of patients developed serious infections. CYC-associated cystitis or bladder cancer did not occur in any patients. At least 1 form of permanent morbidity from WG alone was noted in 74.0% of patients. Three patients (3.7%) died over a median follow-up period of 4.5 years; no deaths were due to active disease. Although treatment was primarily directed toward achieving clinical improvement and not calculated to achieve marked lymphopenia, patients in whom treatment produced lymphocyte counts of <or=500/mm3, sustained over a median time of 4 (quartiles: 1, 8.5) months, were 3.8 times more likely to achieve a sustained remission (p = 0.015). Conversely, following remission, an absolute lymphocyte count of >1000/mm was associated with a hazard ratio for relapse of 3.0, although the latter difference was not statistically significant. In patients with WG, a strategy that limits or avoids CYC therapy produced a frequency of remission comparable to that achieved with conventional CYC protocols, excellent survival, and avoidance of long-term CYC toxicity. However, relapses were common and incremental permanent morbidity occurred in most patients. While not a goal of therapy, when treatment produced marked lymphopenia, prolonged remissions…
Bookmarks Related papers MentionsView impact
American journal of medical genetics. Part A, Jan 9, 2016
Subtelomeric deletions have been reported in ∼2.5% of individuals with developmental disabilities... more Subtelomeric deletions have been reported in ∼2.5% of individuals with developmental disabilities. Subtelomeric deletion 2q37 has been detected in many individuals diagnosed with intellectual disabilities (ID) and autism spectrum disorders (ASD). Previously, genotype-phenotype correspondences were examined for their relationship to breakpoints 37.1, 37.2, or 37.3. Our purpose was to ascertain whether there were phenotypic differences at these breakpoints, elucidate the cognitive-behavioral phenotype in del2q37, and examine the genotype-phenotype association in the deletion with respect to cognitive-behavioral profiles and ASD. We administered a comprehensive cognitive-behavioral battery to nine children diagnosed with del 2q37, ages 3.9-17.75 years. ID for five tested with the Stanford-Binet (4th Edition) (SBFE) ranged from severe to mild [IQ Range: 36-59]. Adaptive behavior scores from the Vineland Adaptive Behavior Scale (VABS) were much below adequate levels (DQ Range: floor valu...
Bookmarks Related papers MentionsView impact
Org Process Res Dev, 2004
Bookmarks Related papers MentionsView impact
Organic Process Research Development, 2008
To support the development of one of our drug candidate molecules, we have had the requirement fo... more To support the development of one of our drug candidate molecules, we have had the requirement for many tens of kilograms of 2-methyl-oxazole-4-carboxaldyde 1 as a starting material. The supply base for electron-rich five-membered heterocyclic starting materials is not as well ...
Bookmarks Related papers MentionsView impact
Org Process Res Dev, 2003
Bookmarks Related papers MentionsView impact
Organic Process Research Development, Nov 19, 2009
A synthetic route amenable to large-scale synthesis of the glycine antagonist (2R,4E)-7-chloro -4... more A synthetic route amenable to large-scale synthesis of the glycine antagonist (2R,4E)-7-chloro -4-(2-oxo-1-phenyl-pyyrrolidin-3-ylidene)-1,2,3,4-tetrahydroquinoline-2-carboxylic acid, (2R,3R,4R,5S)-6-(methylamino)hexane-1,2,3,4,5-penta-ol 12 is presented. The route ...
Bookmarks Related papers MentionsView impact
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery, Jan 10, 2016
Melanin pigmentation is present in the human inner ear. In this study, we quantify the melanin pi... more Melanin pigmentation is present in the human inner ear. In this study, we quantify the melanin pigmentation in the vestibular system and examine racial differences of vestibular melanin pigmentation using human cadaveric temporal bone specimens. Basic research. Laboratory. Light microscopy was used to examine specimens from 40 left temporal bones from the Johns Hopkins Human Temporal Bone Collection. Color images of (1) ampulla of the horizontal canal, (2) utricular wall, (3) endolymphatic duct, and (4) posterior ampullary nerve as it enters the posterior canal were acquired with a digital camera attached to the microscope and image acquisition software. Acquired images of each anatomic area of interest were processed offline through ImageJ. Melanin content was then compared according to ethnicity, age, sex, and location. Fifteen African American and 25 Caucasian specimens were analyzed. Mean age was 68.8 years. African American specimens had a significantly greater amount of pigmen...
Bookmarks Related papers MentionsView impact
PloS one, 2016
This study set out to investigate whether cognitive coping strategies that match participants'... more This study set out to investigate whether cognitive coping strategies that match participants' preferred coping style effectively reduce pain intensity and situational anxiety in a population of people with chronic pain. Chronic pain patients (N = 43) completed questionnaires on coping style, pain intensity, self-efficacy, and situational/trait anxiety. Participants were classified as Monitors (n = 16) or Blunters (n = 19) based on their Miller Behavioural Style Scale score. Participants were then provided with an audiotaped intervention in which they were instructed to focus on pain sensations or to engage in a distraction task and then to rate the pain intensity and their anxiety during and after the attentional focus and distraction conditions. The two interventions were each completed by all participants, having been presented in counterbalanced order. Findings revealed that Monitors' level of anxiety decreased following a congruent (i.e., sensation-focused) intervention...
Bookmarks Related papers MentionsView impact
The Journal of rheumatology, Jan 15, 2016
To evaluate the relative risk (RR) of pulmonary disease among patients with rheumatoid arthritis ... more To evaluate the relative risk (RR) of pulmonary disease among patients with rheumatoid arthritis (RA) treated with leflunomide (LEF). We searched PubMed, Embase, and the Cochrane Central Register of Controlled Trials to April 15, 2014. We included double-blind randomized controlled trials (RCT) of LEF versus placebo or active comparator agents in adults with RA. Studies with fewer than 50 subjects or shorter than 12 weeks were excluded. Two investigators independently searched both databases. All authors reviewed selected studies. We compared RR differences using the Mantel-Haenszel random-effects method to assess total respiratory adverse events, infectious respiratory adverse events, noninfectious respiratory adverse events, interstitial lung disease, and death. Our literature search returned 5673 results. A total of 8 studies, 4 with placebo comparators, met our inclusion criteria. There were 708 respiratory adverse events documented in 4579 participants. Six cases of pneumonitis...
Bookmarks Related papers MentionsView impact
Bookmarks Related papers MentionsView impact
Journal of Medical Genetics, 2016
Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size del... more Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size deletions of the 4p16.3 region. Seizures are frequently, but not always, associated with WHS. We hypothesised that the size and location of the deleted region may correlate with seizure presentation. Using chromosomal microarray analysis, we finely mapped the breakpoints of copy number variants (CNVs) in 48 individuals with WHS. Seizure phenotype data were collected through parent-reported answers to a comprehensive questionnaire and supplemented with available medical records. We observed a significant correlation between the presence of an interstitial 4p deletion and lack of a seizure phenotype (Fisher's exact test p=3.59e-6). In our cohort, there were five individuals with interstitial deletions with a distal breakpoint at least 751 kbp proximal to the 4p terminus. Four of these individuals have never had an observable seizure, and the fifth individual had a single febrile seizure at the age of 1.5 years. All other individuals in our cohort whose deletions encompass the terminal 751 kbp region report having seizures typical of WHS. Additional examples from the literature corroborate these observations and further refine the candidate seizure susceptibility region to a region 197 kbp in size, starting 368 kbp from the terminus of chromosome 4. We identify a small terminal region of chromosome 4p that represents a seizure susceptibility region. Deletion of this region in the context of WHS is sufficient for seizure occurrence.
Bookmarks Related papers MentionsView impact
Bookmarks Related papers MentionsView impact
Bookmarks Related papers MentionsView impact
Annals of the Rheumatic Diseases, 2014
Bookmarks Related papers MentionsView impact
Hereditary multiple exostosis (HME) is an autosomal dominant disorder leading to polyostotic peri... more Hereditary multiple exostosis (HME) is an autosomal dominant disorder leading to polyostotic periphyseal osteochondroma formation. These tumorous lesions can cause growth disturbances, painful local symptoms, restriction of joint motion, and neurologic compromise. Malignant transformation has been noted. The reports of the incidence of these complications vary widely in the literature. Recently, genetic lineage mapping disclosed three locations for HME with loci on chromosomes 8, 11, and 19. It is possible that these three genotypes may result in different phenotypic expression of HME and thus explain the variable manifestations of the disease. This study attempts to record the clinical findings of HME patients who have undergone genetic mapping to determine whether varying clinical patterns may exist for each genotype of HME.
Bookmarks Related papers MentionsView impact
American journal of medical genetics. Part A, Jan 16, 2015
Typically gastroschisis is considered an isolated birth defect; however, other major malformation... more Typically gastroschisis is considered an isolated birth defect; however, other major malformations are reported to occur in 5-35% of cases depending on inclusion criteria. This study evaluated the associated malformations, small for gestational age, and survival among a clinically well-characterized population-based gastroschisis cohort, delivered from 1997-2011. We used data from Utah's statewide population-based surveillance system, which monitors major structural birth defects among all pregnancy outcomes (i.e., live births, stillbirths, pregnancy terminations, and miscarriages). Of the initial 387 gastroschisis cases, we excluded 51 (13.2%) for the following reasons: inadequately described or macerated fetuses, part of a specific malformation complex or sequence (limb-body wall complex, amniotic band sequence, or a severe form of abdominoschisis), leaving a study sample of 336 clinically confirmed cases. Gastroschisis was isolated non-syndromic in 284 cases (84.5%). One case...
Bookmarks Related papers MentionsView impact
Bookmarks Related papers MentionsView impact
Perspectives on Politics
Is American democracy under threat? The question is more prominent in political debate now than a... more Is American democracy under threat? The question is more prominent in political debate now than at any time in recent memory. However, it is also too blunt; there is widespread recognition that democracy is multifaceted and that backsliding, when it occurs, tends to be piecemeal. To address these concerns, we provide original data from surveys of political science experts and the public measuring the perceived importance and performance of U.S. democracy on a number of dimensions during the first year-and-a-half of the Trump presidency. We draw on a theory of how politicians may transgress limits on their authority and the conditions under which constraints are self-enforcing. We connect this theory to our survey data in an effort to identify potential areas of agreement—bright lines—among experts and the public about the most important democratic principles and whether they have been violated. Public and expert perceptions often differ on the importance of specific democratic princ...
Bookmarks Related papers MentionsView impact
European Journal of Medical Genetics, 2016
Mycophenolate mofetil (MMF) is probably the most common employed immunosuppressant drug in recipi... more Mycophenolate mofetil (MMF) is probably the most common employed immunosuppressant drug in recipients of solid organ transplant and in many autoimmune diseases. In vitro studies, a significant number of single clinical observations and a recent study from a group of different European teratogen information services, have provided very consistent data supporting the existence of a specific MMF embryopathy. The typical malformative pattern of MMF embryopathy includes external ear anomalies ranging from hypoplastic pinna (microtia) to complete absence of pinna (anotia); cleft lip, with or without cleft palate, and ocular anomalies as iris or chorioretinal coloboma and anophthalmia/microphthalmia. Other less frequent features are congenital heart defects, distal limbs anomalies, esophageal atresia, vertebral malformations, diaphragmatic hernia, and kidney and central nervous system anomalies. Neurodevelopmental outcome seems favorable in the small number of patients where information about this issue is available, but neurological deficits have been documented. Physicians in charge of women under MMF therapy should be aware of the potential risk of this drug to cause a specific embryopathy and the need of interrupting the treatment at least six weeks before becoming pregnant.
Bookmarks Related papers MentionsView impact
American journal of medical genetics. Part A, Jan 23, 2016
In 1994, Braddock and Carey first reported two unrelated girls with a new multiple malformation s... more In 1994, Braddock and Carey first reported two unrelated girls with a new multiple malformation syndrome. The primary features included Pierre Robin sequence, persistent neonatal-onset thrombocytopenia, agenesis of the corpus callosum, a distinctive facies, enamel hypoplasia, and severe developmental delay. Since that time, there have been multiple other reported patients with a similar phenotype. In addition, several reports of thrombocytopenia and developmental delay have been documented in association with deletions in the Down syndrome critical region at 21q22. The similarity of the reported cases with deletions involving 21q22 with the clinical presentation of the two patients with Braddock-Carey syndrome resulted in a reinvestigation of the genetic etiology of these two patients 20 years after the original study. This investigation provides evidence that the etiology of this and other "Fanconi-like" disorders represent a newly recognized contiguous gene deletion synd...
Bookmarks Related papers MentionsView impact
Medicine, Sep 1, 2007
We conducted a retrospective review to assess outcomes of therapy in patients with newly diagnose... more We conducted a retrospective review to assess outcomes of therapy in patients with newly diagnosed Wegener granulomatosis (WG) using methotrexate (MTX) for mild to moderate disease and short-term treatment with cyclophosphamide (CYC) followed by MTX for severe disease. Patients with WG were included if their initial plan of therapy and subsequent care were directly supervised by the Cleveland Clinic Center for Vasculitis Care and Research. Severe disease (immediately life-threatening or involving critical organs) was initially treated with CYC and glucocorticoids. Mild to moderate disease was initially treated with MTX and glucocorticoids if serum creatinine was less than 2 mg/dL. Following initial improvement of severe disease, treatment was changed to MTX if serum creatinine was originally less than 2 mg/dL or had diminished to less than 2 mg/dL. Disease activity was determined at each visit and later converted to a Birmingham Vasculitis Activity Score, as modified for Wegener granulomatosis (BVAS/WG). Laboratory monitoring of disease and treatment toxicity was initially weekly and never less than monthly.Eighty-two (32%) of 253 patients with WG referred to the Center for Vasculitis Care and Research met eligibility criteria. Ineligible patients did not have new-onset disease or were not able to be followed principally in our center. Seventy percent of patients (57/82) initially had severe disease and received a short course of CYC for remission induction. In over half of these patients, illness was judged to be severe because of pulmonary hemorrhage; rapidly progressive glomerulonephritis, including need for dialysis; or neurologic abnormalities. All patients improved: remission was achieved in 50% (41/82) of patients within 6 months and in 72% (59/82) within 12 months. Sustained remission (BVAS/WG = 0 for at least 6 consecutive months) was ultimately achieved in 78% (64/82) of patients. Among the 75 (91%) patients who achieved remission of any duration, 45% relapsed within 1 year and 66% relapsed within 2 years following remission. Eighty-two percent of relapsed patients achieved subsequent remissions after additional treatment. About three-quarters of relapses were mild and promptly responded to treatment. Seventeen percent of patients developed serious infections. CYC-associated cystitis or bladder cancer did not occur in any patients. At least 1 form of permanent morbidity from WG alone was noted in 74.0% of patients. Three patients (3.7%) died over a median follow-up period of 4.5 years; no deaths were due to active disease. Although treatment was primarily directed toward achieving clinical improvement and not calculated to achieve marked lymphopenia, patients in whom treatment produced lymphocyte counts of <or=500/mm3, sustained over a median time of 4 (quartiles: 1, 8.5) months, were 3.8 times more likely to achieve a sustained remission (p = 0.015). Conversely, following remission, an absolute lymphocyte count of >1000/mm was associated with a hazard ratio for relapse of 3.0, although the latter difference was not statistically significant. In patients with WG, a strategy that limits or avoids CYC therapy produced a frequency of remission comparable to that achieved with conventional CYC protocols, excellent survival, and avoidance of long-term CYC toxicity. However, relapses were common and incremental permanent morbidity occurred in most patients. While not a goal of therapy, when treatment produced marked lymphopenia, prolonged remissions…
Bookmarks Related papers MentionsView impact
American journal of medical genetics. Part A, Jan 9, 2016
Subtelomeric deletions have been reported in ∼2.5% of individuals with developmental disabilities... more Subtelomeric deletions have been reported in ∼2.5% of individuals with developmental disabilities. Subtelomeric deletion 2q37 has been detected in many individuals diagnosed with intellectual disabilities (ID) and autism spectrum disorders (ASD). Previously, genotype-phenotype correspondences were examined for their relationship to breakpoints 37.1, 37.2, or 37.3. Our purpose was to ascertain whether there were phenotypic differences at these breakpoints, elucidate the cognitive-behavioral phenotype in del2q37, and examine the genotype-phenotype association in the deletion with respect to cognitive-behavioral profiles and ASD. We administered a comprehensive cognitive-behavioral battery to nine children diagnosed with del 2q37, ages 3.9-17.75 years. ID for five tested with the Stanford-Binet (4th Edition) (SBFE) ranged from severe to mild [IQ Range: 36-59]. Adaptive behavior scores from the Vineland Adaptive Behavior Scale (VABS) were much below adequate levels (DQ Range: floor valu...
Bookmarks Related papers MentionsView impact
Org Process Res Dev, 2004
Bookmarks Related papers MentionsView impact
Organic Process Research Development, 2008
To support the development of one of our drug candidate molecules, we have had the requirement fo... more To support the development of one of our drug candidate molecules, we have had the requirement for many tens of kilograms of 2-methyl-oxazole-4-carboxaldyde 1 as a starting material. The supply base for electron-rich five-membered heterocyclic starting materials is not as well ...
Bookmarks Related papers MentionsView impact
Org Process Res Dev, 2003
Bookmarks Related papers MentionsView impact
Organic Process Research Development, Nov 19, 2009
A synthetic route amenable to large-scale synthesis of the glycine antagonist (2R,4E)-7-chloro -4... more A synthetic route amenable to large-scale synthesis of the glycine antagonist (2R,4E)-7-chloro -4-(2-oxo-1-phenyl-pyyrrolidin-3-ylidene)-1,2,3,4-tetrahydroquinoline-2-carboxylic acid, (2R,3R,4R,5S)-6-(methylamino)hexane-1,2,3,4,5-penta-ol 12 is presented. The route ...
Bookmarks Related papers MentionsView impact
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery, Jan 10, 2016
Melanin pigmentation is present in the human inner ear. In this study, we quantify the melanin pi... more Melanin pigmentation is present in the human inner ear. In this study, we quantify the melanin pigmentation in the vestibular system and examine racial differences of vestibular melanin pigmentation using human cadaveric temporal bone specimens. Basic research. Laboratory. Light microscopy was used to examine specimens from 40 left temporal bones from the Johns Hopkins Human Temporal Bone Collection. Color images of (1) ampulla of the horizontal canal, (2) utricular wall, (3) endolymphatic duct, and (4) posterior ampullary nerve as it enters the posterior canal were acquired with a digital camera attached to the microscope and image acquisition software. Acquired images of each anatomic area of interest were processed offline through ImageJ. Melanin content was then compared according to ethnicity, age, sex, and location. Fifteen African American and 25 Caucasian specimens were analyzed. Mean age was 68.8 years. African American specimens had a significantly greater amount of pigmen...
Bookmarks Related papers MentionsView impact
PloS one, 2016
This study set out to investigate whether cognitive coping strategies that match participants'... more This study set out to investigate whether cognitive coping strategies that match participants' preferred coping style effectively reduce pain intensity and situational anxiety in a population of people with chronic pain. Chronic pain patients (N = 43) completed questionnaires on coping style, pain intensity, self-efficacy, and situational/trait anxiety. Participants were classified as Monitors (n = 16) or Blunters (n = 19) based on their Miller Behavioural Style Scale score. Participants were then provided with an audiotaped intervention in which they were instructed to focus on pain sensations or to engage in a distraction task and then to rate the pain intensity and their anxiety during and after the attentional focus and distraction conditions. The two interventions were each completed by all participants, having been presented in counterbalanced order. Findings revealed that Monitors' level of anxiety decreased following a congruent (i.e., sensation-focused) intervention...
Bookmarks Related papers MentionsView impact
The Journal of rheumatology, Jan 15, 2016
To evaluate the relative risk (RR) of pulmonary disease among patients with rheumatoid arthritis ... more To evaluate the relative risk (RR) of pulmonary disease among patients with rheumatoid arthritis (RA) treated with leflunomide (LEF). We searched PubMed, Embase, and the Cochrane Central Register of Controlled Trials to April 15, 2014. We included double-blind randomized controlled trials (RCT) of LEF versus placebo or active comparator agents in adults with RA. Studies with fewer than 50 subjects or shorter than 12 weeks were excluded. Two investigators independently searched both databases. All authors reviewed selected studies. We compared RR differences using the Mantel-Haenszel random-effects method to assess total respiratory adverse events, infectious respiratory adverse events, noninfectious respiratory adverse events, interstitial lung disease, and death. Our literature search returned 5673 results. A total of 8 studies, 4 with placebo comparators, met our inclusion criteria. There were 708 respiratory adverse events documented in 4579 participants. Six cases of pneumonitis...
Bookmarks Related papers MentionsView impact
Bookmarks Related papers MentionsView impact
Journal of Medical Genetics, 2016
Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size del... more Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size deletions of the 4p16.3 region. Seizures are frequently, but not always, associated with WHS. We hypothesised that the size and location of the deleted region may correlate with seizure presentation. Using chromosomal microarray analysis, we finely mapped the breakpoints of copy number variants (CNVs) in 48 individuals with WHS. Seizure phenotype data were collected through parent-reported answers to a comprehensive questionnaire and supplemented with available medical records. We observed a significant correlation between the presence of an interstitial 4p deletion and lack of a seizure phenotype (Fisher's exact test p=3.59e-6). In our cohort, there were five individuals with interstitial deletions with a distal breakpoint at least 751 kbp proximal to the 4p terminus. Four of these individuals have never had an observable seizure, and the fifth individual had a single febrile seizure at the age of 1.5 years. All other individuals in our cohort whose deletions encompass the terminal 751 kbp region report having seizures typical of WHS. Additional examples from the literature corroborate these observations and further refine the candidate seizure susceptibility region to a region 197 kbp in size, starting 368 kbp from the terminus of chromosome 4. We identify a small terminal region of chromosome 4p that represents a seizure susceptibility region. Deletion of this region in the context of WHS is sufficient for seizure occurrence.
Bookmarks Related papers MentionsView impact
Bookmarks Related papers MentionsView impact
Bookmarks Related papers MentionsView impact
Annals of the Rheumatic Diseases, 2014
Bookmarks Related papers MentionsView impact
Hereditary multiple exostosis (HME) is an autosomal dominant disorder leading to polyostotic peri... more Hereditary multiple exostosis (HME) is an autosomal dominant disorder leading to polyostotic periphyseal osteochondroma formation. These tumorous lesions can cause growth disturbances, painful local symptoms, restriction of joint motion, and neurologic compromise. Malignant transformation has been noted. The reports of the incidence of these complications vary widely in the literature. Recently, genetic lineage mapping disclosed three locations for HME with loci on chromosomes 8, 11, and 19. It is possible that these three genotypes may result in different phenotypic expression of HME and thus explain the variable manifestations of the disease. This study attempts to record the clinical findings of HME patients who have undergone genetic mapping to determine whether varying clinical patterns may exist for each genotype of HME.
Bookmarks Related papers MentionsView impact
American journal of medical genetics. Part A, Jan 16, 2015
Typically gastroschisis is considered an isolated birth defect; however, other major malformation... more Typically gastroschisis is considered an isolated birth defect; however, other major malformations are reported to occur in 5-35% of cases depending on inclusion criteria. This study evaluated the associated malformations, small for gestational age, and survival among a clinically well-characterized population-based gastroschisis cohort, delivered from 1997-2011. We used data from Utah's statewide population-based surveillance system, which monitors major structural birth defects among all pregnancy outcomes (i.e., live births, stillbirths, pregnancy terminations, and miscarriages). Of the initial 387 gastroschisis cases, we excluded 51 (13.2%) for the following reasons: inadequately described or macerated fetuses, part of a specific malformation complex or sequence (limb-body wall complex, amniotic band sequence, or a severe form of abdominoschisis), leaving a study sample of 336 clinically confirmed cases. Gastroschisis was isolated non-syndromic in 284 cases (84.5%). One case...
Bookmarks Related papers MentionsView impact
Designing Democratic Government: Making Institutions Work , 2008
Imagine you are the leader of a political party in a democracy that will hold presidential electi... more Imagine you are the leader of a political party in a democracy that will hold presidential elections next year. Your goal is to put forward as strong a candidate as possible. The decision as to how to select that candidate falls to you as supreme party chief. You can draw on your wisdom and gut instincts and unilaterally anoint a standard bearer. You can summon an executive council to a smoke-filled backroom to deliberate and make the call. You can convene a party congress or convention and devise a decision rule that ...
Bookmarks Related papers MentionsView impact
Bookmarks Related papers MentionsView impact
Bookmarks Related papers MentionsView impact
Bookmarks Related papers MentionsView impact