A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.

Purpose: The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics to resolve variants of uncertain significance (VUS) in the clinical management of patients and families with cardiomyopathies, primary arrhythmias, and congenital heart disease (CHD).

Methods: Between April 2019 and December 2021, 600 probands meeting cardiovascular disorder criteria from 17 cardiology and genetics clinics across Australia were enrolled in the Flagship and underwent GS.

Ecological and health risk assessment of trace metals in water collected from Haripur gas blowout area of Bangladesh.

The study aims to assess the trace metals and physicochemical properties of water in the adjacent to the Sylhet gas blowout area. Trace metals were analyzed using atomic absorption spectrophotometer, whereas physicochemical parameters were evaluated in-situ state using portable instruments and also in the laboratory. Trace metals Pb, Cd, and Ni were found in the water samples higher than the acceptable limit by WHO standards, whereas the concentration of Cu and Zn were within acceptable limit, respectively.

Targeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer's Disease.

The identification of novel genetic variants contributing to the widespread in the age of onset (AOO) of Alzheimer's disease (AD) could aid in the prognosis and/or development of new therapeutic strategies focused on early interventions. We recruited 78 individuals with AD from the Paisa genetic isolate in Antioquia, Colombia. These individuals belong to the world largest multigenerational and extended pedigree segregating AD as a consequence of a dominant fully penetrant mutation in the PSEN1 gene and exhibit an AOO ranging from the early 1930s to the late 1970s.

Late Onset Alzheimer's Disease Risk Variants in Cognitive Decline: The PATH Through Life Study.

Recent genome wide association studies have identified a number of single nucleotide polymorphisms associated with late onset Alzheimer's disease (LOAD). We examined the associations of 24 LOAD risk loci, individually and collectively as a genetic risk score, with cognitive function. We used data from 1,626 non-demented older Australians of European ancestry who were examined up to four times over 12 years on tests assessing episodic memory, working memory, vocabulary, and information processing speed.

Associations between corpus callosum size and ADHD symptoms in older adults: The PATH through life study.

Neuroimaging studies of attention-deficit/hyperactivity disorder (ADHD) have revealed deviations of the corpus callosum in children and adolescents. However, little is known about the link between callosal morphology and symptoms of inattention or hyperactivity in adulthood, especially later in life. Here, we investigated in a large population-based sample of 280 adults (150 males, 130 females) in their late sixties and early seventies whether ADHD symptoms correlate with callosal thickness.

Retrospective assessment of childhood ADHD symptoms for diagnosis in adults: validity of a short 8-item version of the Wender-Utah Rating Scale.

The Wender-Utah Rating Scale (WURS) is a widely used self-report instrument for retrospective assessment of childhood ADHD. However, many WURS items are not specific to ADHD. Here, we investigated the effect of excluding these items on the performance of the WURS in predicting adult ADHD based on previous diagnosis and current clinically significant symptoms.

Association of genetic risk factors with cognitive decline: the PATH through life project.

We examined the association of 28 single nucleotide polymorphisms (SNPs), previously associated with dementia or cognitive performance, with tests assessing episodic memory, working memory, vocabulary, and perceptual speed in 1689 nondemented older Australians of European ancestry. In addition to testing each variant individually, we assessed the collective association of the 12-risk SNPs for late-onset Alzheimer's disease using weighted and unweighted genetic risk scores. Significant associations with cognitive performance were observed for APOE ε4 allele, ABCA7-rs3764650, CR1-rs3818361, MS4A4E-rs6109332, BDNF-rs6265, COMT-rs4680, CTNNBL-rs6125962, FRMD4A-rs17314229, FRMD4A-rs17314229, intergenic SNP chrX-rs12007229, PDE7A-rs10808746, SORL1-rs668387, and ZNF224-rs3746319.

Interactive effect of APOE genotype and blood pressure on cognitive decline: the PATH through life study.

The apolipoprotein E (APOE) *ε4 allele and hypertension are two of the most prevalent risk factors for cognitive decline in later life. Here we investigate whether cognitive decline is affected by interaction between these two risk factors. Specifically, we examine whether APOE*ε4 moderates the association between high blood pressure and cognition in later life.

Cognitive ability, intraindividual variability, and common genetic variants of catechol-O-methyltransferase and brain-derived neurotrophic factor: a longitudinal study in a population-based sample of older adults.

Genetic differences play a significant role in generating individual differences in cognitive abilities. Studies have linked common polymorphisms (valine to methionine substitution; VAL/MET) in the catechol-O-methyltransferase (COMT) and brain-derived neurotrophic factor (BDNF) to cognitive differences between individuals. However, not all studies support these associations and hence, the impact of these polymorphisms on cognition is unclear.

Regional Brain Volumes and ADHD Symptoms in Middle-Aged Adults: The PATH Through Life Study.

Objective: We investigated whether volumetric differences in ADHD-associated brain regions are related to current symptoms of inattention and hyperactivity in healthy middle-aged adults and whether co-occurring anxiety/depression symptoms moderate these relationships.

Method: ADHD Self-Report Scale and Brief Patient Health Questionnaire were used to assess current symptoms of inattention, hyperactivity, anxiety, and depression in a population-based sample ( n = 269). Brain volumes, measured using a semi-automated method, were analyzed using multiple regression and structural equation modeling to evaluate brain volume-inattention/hyperactivity symptom relationships for selected regions.

Attention Deficit/Hyperactivity Disorder symptoms and cognitive abilities in the late-life cohort of the PATH through life study.

Attention Deficit/Hyperactivity Disorder (ADHD) is a common neuropsychiatric disorder that has not been well studied in older adults. In this study we examined relationships between ADHD symptoms and cognitive ability and compared them between middle-age (MA; 48-52 years) and older-age (OA; 68-74 years) adults sampled from the same population. ADHD, mood disorder symptoms and cognitive abilities were assessed in a large population-based sample (n = 3443; 50% male).

ADHD symptoms and cognitive abilities in the midlife cohort of the PATH through life study.

Objective: ADHD is a lifelong condition, but it remains understudied in older adults. We examined the effects of ADHD-related inattention and hyperactivity symptoms on cognitive abilities in middle-age adults.

Method: ADHD symptoms and cognitive abilities were accessed in a population-based sample (N = 2,091).

A population-based study of attention deficit/hyperactivity disorder symptoms and associated impairment in middle-aged adults.

Attention deficit/hyperactivity disorder (ADHD) is the most prevalent childhood psychiatric condition. It frequently persists into adulthood and can have serious health and other adverse consequences. The majority of previous adult ADHD studies have focused on young adults so that relatively little is known about ADHD symptoms and their effects in mid and late life.

DRD4-exonIII-VNTR moderates the effect of childhood adversities on emotional resilience in young-adults.

Most individuals successfully maintain psychological well-being even when exposed to trauma or adversity. Emotional resilience or the ability to thrive in the face of adversity is determined by complex interactions between genetic makeup, previous exposure to stress, personality, coping style, availability of social support, etc. Recent studies have demonstrated that childhood trauma diminishes resilience in adults and affects mental health.

Effect of model choice in genetic association studies: DRD4 exon III VNTR and cigarette use in young adults.

A major concern with the vast literature associating the highly polymorphic 48 bp VNTR in exon III of the human dopamine receptor D4 gene (DRD4) with various behavioral phenotypes is the lack of concordance between studies. Part of the problem arises from the absence of a universally accepted scheme for pooling the large number of low frequency genotypes into appropriate categories. Here, we investigated the effect of different pooling strategies and genetic models on the reported association between DRD4-exIII-VNTR polymorphism and cigarette smoking.

Lifetime cigarette smoking is associated with striatal volume measures.

Nicotine, the primary addictive component of tobacco, affects the mammalian brain. Smokers' brains have smaller cortical grey matter volumes and/or lower densities compared with non-smokers'. Differences in subcortical structures like the striatum are however, less clear.

Epidemiologic investigation and targeted vaccination initiative in response to an outbreak of meningococcal disease among illicit drug users in Brooklyn, New York.

Background: An outbreak of serogroup C meningococcal disease that involved illicit drug users and their contacts occurred in Brooklyn, New York, during 2005 and 2006.

Methods: The objectives of this study were to identify the population at risk for meningococcal disease, describe efforts to interrupt disease transmission, and assess the impact of a vaccine initiative. Descriptive and molecular epidemiological analysis was used to define the extent of the outbreak and the common risk factors among outbreak-related cases.

Macromolecular uptake in Drosophila pericardial cells requires rudhira function.

The vertebrate reticuloendothelial system (RES) functions to remove potentially damaging macromolecules, such as excess hormones, immune-peptides and -complexes, bacterial-endotoxins, microorganisms and tumor cells. Insect hemocytes and nephrocytes - which include pericardial cells (PCs) and garland cells - are thought to be functionally equivalent to the RES. Although the ability of both vertebrate scavenger endothelial cells (SECs) and PCs to sequester colloidal and soluble macromolecules has been demonstrated the molecular mechanism of this function remains to be investigated.

Gene expression analysis in post-embryonic pericardial cells of Drosophila.

Increasing evidence suggests conservation of cardiovascular molecules between vertebrates and invertebrates. Vertebrate Rudhira, an evolutionary conserved WD40 protein is expressed during primitive erythropoiesis, neoangiogenesis and tumors. We report here the expression profile of the Drosophila ortholog of Rudhira (DRudh) in the fly life cycle.

Post-embryonic pericardial cells of Drosophila are required for overcoming toxic stress but not for cardiac function or adult development.

The Drosophila heart is composed of two cell types: cardioblasts (CB) and pericardial cells (PC). Whereas CBs act to maintain rhythmic contractions, the functions of accessory PCs are not clear. The close association between these two cell types has led to speculation of a cardio-regulatory role for PCs.

Diarrheal illness detected through syndromic surveillance after a massive power outage: New York City, August 2003.

Objectives: We investigated increases in diarrheal illness detected through syndromic surveillance after a power outage in New York City on August 14, 2003.

Methods: The New York City Department of Health and Mental Hygiene uses emergency department, pharmacy, and absentee data to conduct syndromic surveillance for diarrhea. We conducted a case-control investigation among patients presenting during August 16 to 18, 2003, to emergency departments that participated in syndromic surveillance.

Monitoring over-the-counter medication sales for early detection of disease outbreaks--New York City.

Introduction: Over-the-counter (OTC) medications are frequently used during the initial phase of illness, and increases in their sales might serve as an early indicator of communitywide disease outbreaks. Since August 2002, the New York City (NYC) Department of Health and Mental Hygiene (DOHMH) has tracked OTC medication sales to enhance detection of natural and intentional infectious disease outbreaks.

Objectives: This report describes the surveillance system and presents results from retrospective analyses and a comparison between citywide trends in OTC medication sales and emergency department (ED) visits.

Interventions to prevent skin cancer by reducing exposure to ultraviolet radiation: a systematic review.

The relationship between skin cancer and ultraviolet radiation is well established. Behaviors such as seeking shade, avoiding sun exposure during peak hours of radiation, wearing protective clothing, or some combination of these behaviors can provide protection. Sunscreen use alone is not considered an adequate protection against ultraviolet radiation.