Genomics yields biological and phenotypic insights into bipolar disorder.

Bipolar disorder is a leading contributor to the global burden of disease. Despite high heritability (60-80%), the majority of the underlying genetic determinants remain unknown. We analysed data from participants of European, East Asian, African American and Latino ancestries (n = 158,036 cases with bipolar disorder, 2.

Basilar artery fenestration and ischaemic stroke: cause, sieve, or both?

This is a case of a young male patient with no known prior risk factors who presented for acute-onset right-sided neurological deficits suspicious for stroke, and magnetic resonance angiography (MRA) identified the development of an occlusion at the level of a basilar artery (BA) fenestration in the setting of right vertebral artery occlusion. The patient was treated with dual-antiplatelet therapy in the hospital and was able to return to work shortly after discharge. The case provides insights into several possibilities for the clinical significance of BA fenestration and its potential causal or contributory relationship with ischaemic stroke of the brainstem.

Fine-mapping genomic loci refines bipolar disorder risk genes.

Bipolar disorder (BD) is a heritable mental illness with complex etiology. While the largest published genome-wide association study identified 64 BD risk loci, the causal SNPs and genes within these loci remain unknown. We applied a suite of statistical and functional fine-mapping methods to these loci, and prioritized 17 likely causal SNPs for BD.

Mice lacking Ptprd exhibit deficits in goal-directed behavior and female-specific impairments in sensorimotor gating.

Protein Tyrosine Phosphatase receptor type D (PTPRD) is a member of the protein tyrosine phosphatase family that mediates cell adhesion and synaptic specification. Genetic studies have linked Ptprd to several neuropsychiatric phenotypes, including Restless Leg Syndrome (RLS), opioid abuse disorder, and antipsychotic-induced weight gain. Genome-wide association studies (GWAS) of either pediatric obsessive-compulsive traits, or Obsessive-Compulsive Disorder (OCD), have identified loci near PTPRD as genome-wide significant, or strongly suggestive for this trait.

Reducing Substance Use and Improving Mental Health Among Construction Workers: An Interview With Chris Trahan Cain.

Construction workers, their unions, and the construction industry face important challenges in addressing substance use disorders and mental health issues. To examine these issues further, we spoke with Chris Trahan Cain, Executive Director of CPWR-The Center for Construction Research and Training, a nonprofit organization that is affiliated with North America's Building Trades Unions and the National Institute for Occupational Safety and Health. As the chair of the North America's Building Trades Unions opioid task force, she has been working with construction unions and employers to develop primary, secondary, and tertiary prevention methods to help combat the opioid epidemic, other substance use disorders and to improve worker mental health.

Exome sequencing in obsessive-compulsive disorder reveals a burden of rare damaging coding variants.

Obsessive-compulsive disorder (OCD) affects 1-2% of the population, and, as with other complex neuropsychiatric disorders, it is thought that rare variation contributes to its genetic risk. In this study, we performed exome sequencing in the largest OCD cohort to date (1,313 total cases, consisting of 587 trios, 41 quartets and 644 singletons of affected individuals) and describe contributions to disease risk from rare damaging coding variants. In case-control analyses (n = 1,263/11,580), the most significant single-gene result was observed in SLITRK5 (odds ratio (OR) = 8.

Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders.

Background: Sex differences in incidence and/or presentation of schizophrenia (SCZ), major depressive disorder (MDD), and bipolar disorder (BIP) are pervasive. Previous evidence for shared genetic risk and sex differences in brain abnormalities across disorders suggest possible shared sex-dependent genetic risk.

Methods: We conducted the largest to date genome-wide genotype-by-sex (G×S) interaction of risk for these disorders using 85,735 cases (33,403 SCZ, 19,924 BIP, and 32,408 MDD) and 109,946 controls from the PGC (Psychiatric Genomics Consortium) and iPSYCH.

Is Persistent Motor or Vocal Tic Disorder a Milder Form of Tourette Syndrome?

Background: Persistent motor or vocal tic disorder (PMVT) has been hypothesized to be a forme fruste of Tourette syndrome (TS). Although the primary diagnostic criterion for PMVT (presence of motor or vocal tics, but not both) is clear, less is known about its clinical presentation.

Objective: The goals of this study were to compare the prevalence and number of comorbid psychiatric disorders, tic severity, age at tic onset, and family history for TS and PMVT.

Lower vitamin D is associated with metabolic syndrome and insulin resistance in systemic lupus: data from an international inception cohort.

Objectives: Vitamin D (25(OH)D) deficiency and metabolic syndrome (MetS) may both contribute to increased cardiovascular risk in SLE. We aimed to examine the association of demographic factors, SLE phenotype, therapy and vitamin D levels with MetS and insulin resistance.

Methods: The Systemic Lupus International Collaborating Clinics (SLICC) enrolled patients recently diagnosed with SLE (<15 months) from 33 centres across 11 countries from 2000.

Disease severity and quality of life in homebound people with advanced Parkinson disease: A pilot study.

Background: As Parkinson disease (PD) progresses, symptoms increase, quality of life (QoL) declines, and individuals may become homebound, often losing access to neurologic care. We aimed to determine whether facilitating expert care could improve our understanding of disease progression, treatment options, and unmet needs in this vulnerable population, and whether such a model could mitigate decline in QoL.

Methods: Patients with PD meeting Medicare homebound criteria were eligible for quarterly interdisciplinary home visits over 12 months.

Multi-Institutional Predictors of Antibiotic Resistance in Patients Presenting to the Emergency Department with Urosepsis Secondary to Ureteral Obstruction.

Patients presenting with a urinary tract infection with kidney or ureteral stones is a urologic emergency often achieve early clinical stability but remain hospitalized while awaiting results from urine antibiotic sensitivity analyses. We aimed to identify clinical predictors of antibiotic resistance in patients who underwent urgent urinary tract decompression for sepsis and obstructive urolithiasis to facilitate early discharge on empiric oral antibiotics. Patients who underwent emergent urinary tract decompression for sepsis and an obstructing ureteral stone from 2014 to 2018 at two academic medical institutions were identified.

Gliomatosis cerebri mimicking diffuse demyelinating disease: Case Report.

Gliomatosis Cerebri (GC) is a rareand rapidly progressive pattern of growth of diffusely infiltrating gliomas with limited treatment options. Imaging findings are usually nonspecific and can mimic other neurologic disorders, including demyelination, encephalitis, and multicentric/multifocal glioma. In this report, we describe a case of a 53-year-old female who presented with left hemiparesis, global headache, and gait ataxia with imaging features initially thought to represent demyelinating disease.

Trichotillomania comorbidity in a sample enriched for familial obsessive-compulsive disorder.

Background: This study addresses the strength of associations between trichotillomania (TTM) and other DSM-IV Axis I conditions in a large sample (n = 2606) enriched for familial obsessive-compulsive disorder (OCD), to inform TTM classification.

Methods: We identified participants with TTM in the Johns Hopkins OCD Family Study (153 families) and the OCD Collaborative Genetics Study, a six-site genetic linkage study of OCD (487 families). We used logistic regression (with generalized estimating equations) to assess the strength of associations between TTM and other DSM-IV disorders.

Btbd3 expression regulates compulsive-like and exploratory behaviors in mice.

BTB/POZ domain-containing 3 (BTBD3) was identified as a potential risk gene in the first genome-wide association study of obsessive-compulsive disorder (OCD). BTBD3 is a putative transcription factor implicated in dendritic pruning in developing primary sensory cortices. We assessed whether BTBD3 also regulates neural circuit formation within limbic cortico-striato-thalamo-cortical circuits and behaviors related to OCD in mice.

Effects of exposure to direct and secondhand hookah and e-cigarette aerosols on ambient air quality and cardiopulmonary health in adults and children: protocol for a panel study.

Introduction: Use of alternative nicotine delivery systems, such as electronic cigarettes and hookahs, has increased dramatically in the USA, but limited research has been conducted on the secondhand effects of these products, especially in children. The objective of this study is to assess the cardiopulmonary effects of e-cigarette and hookah use in vaping and smoking adults, and in non-smoking/non-vaping adults and children exposed to secondhand particles and gases.

Methods And Analysis: This study uses a pre/post design, with four groups: two control groups (non-smoking/non-vaping and cigarette smoking) and two test groups (hookah smoking and e-cigarette vaping).

Financial IncEntives for Smoking TreAtment: protocol of the FIESTA trial and FIESTA Oral Microbiome Substudy.

Background: Smoking is the leading preventable cause of death in the United States, but evidence-based smoking cessation therapy is underutilized. Financial incentive strategies represent an innovative approach for increasing the use of counseling and pharmacotherapy. If effective, they could supplement or supplant resource-intensive policy options, particularly in populations for whom smoking has substantial societal costs.

Day of Admission is Associated With Variation in Geriatric Hip Fracture Care.

Introduction: The transition to bundled payment reimbursement for geriatric hip fractures has incentivized the identification of avoidable inefficiencies in the cost and quality of care. Although a "weekend effect" has been described with regard to hip fracture mortality, measures of efficiency according to the day of hip fracture admission are currently unclear.

Methods: We identified 62,303 patients aged 65 years or older with a primary diagnosis of femoral neck or intertrochanteric hip fracture in the New York Statewide Planning and Research Cooperative System between 2009 and 2014.

Examination of the shared genetic basis of anorexia nervosa and obsessive-compulsive disorder.

Anorexia nervosa (AN) and obsessive-compulsive disorder (OCD) are often comorbid and likely to share genetic risk factors. Hence, we examine their shared genetic background using a cross-disorder GWAS meta-analysis of 3495 AN cases, 2688 OCD cases, and 18,013 controls. We confirmed a high genetic correlation between AN and OCD (r = 0.