Risk assessment of venous thromboembolism in inflammatory bowel disease by inherited risk in a population-based incident cohort.

Background: Inflammatory bowel disease (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), is a chronic inflammatory disease of the digestive tract with increasing prevalence globally. Although venous thromboembolism (VTE) is a major complication in IBD patients, it is often underappreciated with limited tools for risk stratification.

Aim: To estimate the proportion of VTE among IBD patients and assess genetic risk factors (monogenic and polygenic) for VTE.

Cancer-associated thrombosis by cancer sites and inherited factors in a prospective population-based cohort.

Cancer-associated thrombosis (CAT) is common and associated with mortality. We estimated CAT rate by cancer sites and inherited factors among cancer patients from the UK Biobank (N =70,406). The 12-month CAT rate after cancer diagnosis was 2.

Guidelines for Caring for the Social Well-Being of Adolescents and Young Adults with Cancer in Australia.

More than 1000 Australian adolescents and young adults (AYAs) are diagnosed with cancer annually. Many report unmet social well-being needs, which impact their mental health. Australian AYA cancer care providers lack guidance to address these needs well.

Association of sickle cell trait with adverse pregnancy outcomes in a population-based cohort.

Introduction: Sickle cell trait (SCT) is common in African descendants. Its association with several adverse pregnancy outcomes (APOs) has been reported but remains inconsistent. The objectives of this study are to test associations of SCT with APOs in non-Hispanic Black women, including (1) validate the associations of SCT with previously reported APOs, (2) test novel associations of SCT with broad spectrum of APOs, and (3) estimate the attributable risk of SCT for implicated APOs.

Refining Risk for Alzheimer's Disease Among Heterozygous APOEɛ4 Carriers.

In a large population-based cohort, we show not all heterozygous APOEɛ4 carriers are at increased risk for Alzheimer's disease (AD); a significantly higher AD proportion was only found for ɛ3/ɛ4, not ɛ2/ɛ4. Among ɛ3/ɛ4 carriers (24% in the cohort), the AD proportion differed considerably by polygenic risk score (PRS). In particular, the AD proportion was lower than the entire cohort for subjects in the bottom 20-percentile PRS and was higher than that of homozygous ɛ4 carriers for subjects at the top 5th-percentile PRS.

Assessing the performance of genetic risk score for stratifying risk of post-sepsis cardiovascular complications.

Background: Patients with sepsis are at increased risk for cardiovascular complications, including myocardial infarction (MI), ischemic stroke (IS), and venous thromboembolism (VTE). Our objective is to assess whether genetic risk score (GRS) can differentiate risk for these complications.

Methods: A population-based prospective cohort of 483,177 subjects, derived from the UK Biobank, was followed for diagnosis of sepsis and its complications (MI, IS, and VTE) after the study recruitment.

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Objectives: To evaluate which of previously reported monogenic genes are associated with increased bladder cancer risk, we reviewed published papers on associations of genes and bladder cancer risk and performed a confirmation study of these genes in a large population-based cohort.

Subjects And Methods: A systematic review of published papers prior to June 2022 was performed first to identify all genes where germline mutations were associated with bladder cancer risk. The associations of these candidate genes with bladder cancer risk were then tested among 1695 bladder cancer cases and 186 271 controls in the UK Biobank (UKB).

Association of Reported Candidate Monogenic Genes With Lung Cancer Risk.

Introduction/background: Published studies on association of germline monogenic genes and lung cancer risk were inconsistent. Our objective is to assess the validity of reported candidate monogenic genes for their association with lung cancer.

Materials And Methods: A systematic review of published papers prior to August 2022 was performed first to identify all genes where germline mutations were associated with lung cancer risk.

Association of rare, recurrent nonsynonymous variants in the germline of prostate cancer patients of African ancestry.

Background: Although men of African ancestry (AA) have the highest mortality rate from prostate cancer (PCa), relatively little is known about the germline variants that are associated with PCa risk in AA men. The goal of this study is to systematically evaluate rare, recurrent nonsynonymous variants across the exome for their association with PCa in AA men.

Methods: Whole exome sequencing (WES) of germline DNA in two AA PCa patient cohorts of Johns Hopkins Hospital (N = 960) and Wayne State University (N = 747) was performed.

THE PHARMACOKINETICS OF TOPICAL ITRACONAZOLE IN PANAMANIAN GOLDEN FROGS (ATELOPUS ZETEKI).

Chytridiomycosis is caused by the fungus Batrachochytrium dendrobatidis and is one of the primary causes of the global decline in amphibian populations and specifically of the Panamanian golden frog ( Atelopus zeteki ). Itraconazole has been demonstrated to be an effective treatment for chytridiomycosis by inhibiting cytochrome P450, a major enzyme important for the structure of B. dendrobatidis zoospores' plasma membranes.

Headache secondary to mass responsive to sumatriptan: a brief report from primary care.

Sumatriptan is effective for acute migraine headache and has been reported to ameliorate the headache of meningitis, subarachnoid hemorrhage, and pituitary mass. We report a case of headache, secondary to cerebral mass, transiently responsive to sumatriptan.

Differential effects of alendronate and losartan therapy on osteopenia and aortic aneurysm in mice with severe Marfan syndrome.

Reduced bone mineral density (osteopenia) is a poorly characterized manifestation of pediatric and adult patients afflicted with Marfan syndrome (MFS), a multisystem disorder caused by structural or quantitative defects in fibrillin-1 that perturb tissue integrity and TGFβ bioavailability. Here we report that mice with progressively severe MFS (Fbn1(mgR/mgR) mice) develop osteopenia associated with normal osteoblast differentiation and bone formation. In vivo and ex vivo experiments, respectively, revealed that adult Fbn1(mgR/mgR) mice respond more strongly to locally induced osteolysis and that Fbn1(mgR/mgR) osteoblasts stimulate pre-osteoclast differentiation more than wild-type cells.

Examining the role of parental frightened/frightening subtypes in predicting disorganized attachment within a brief observational procedure.

Following Main and Hesse's hypothesis, several investigators have affirmed that frightened/frightening (FR) as well as particular atypical maternal behaviors are associated with infant disorganized and adult unresolved attachment. Here, for the first time, FR behavior was observed in (a) middle-class father-infant (n = 25) and independent mother-infant dyads (n = 50) and (b) a brief laboratory play session. In addition, relations between disorganization, unresolved attachment, and the six FR system subscales were explored.

Correlation between housestaff performance on the United States Medical Licensing Examination and standardized patient encounters.

Background: There is interest in the use of "standardized patients" to assist in evaluating medical trainees' clinical skills, which may be difficult to evaluate with written exams alone. Previous studies of the validity of observed structured clinical exams have found low correlation with various written exams as well as with faculty evaluations. Since the United States Medical Licensing Examination (USMLE) results are often used by training programs in the selection of applicants, we assessed the correlation between performance on an observed structured clinical exam and the USMLE, steps 1 and 2, for internal medicine housestaff.

The efficacy of ECT in adults with mental retardation experiencing psychiatric disorders.

There is a paucity of empirical data establishing the efficacy of electroconvulsive therapy (ECT) in patients with mental retardation and psychiatric disorders. This study examines the efficacy of ECT on specific symptoms and between psychiatric diagnoses in patients with mental retardation who are psychiatrically ill. A chart review was performed on 20 inpatients who had received ECT on a dedicated Mental Retardation-Dual Diagnosis Unit and were divided into 3 categories: mood disorders (n = 12), psychotic disorders (n = 6), and intermittent explosive disorder (n = 2).