Objective: Reproductive factors, including parity, may contribute to dementia risk, due to hormonal, physiological, social, and demographic factors. We hypothesized that higher parity would be asso...

Background: Numerous studies have shown inverse associations between serum magnesium (Mg) levels and risk of cardiovascular disease (CVD), but studies of dietary Mg have not been consistent. Aim: T...

Background: Nocturnal hypoxemia may better capture disease burden than obstructive sleep apnea (OSA). Using a subset of participants from the Atherosclerosis Risk in Communities (ARIC) study who pa...

Introduction: Oral anticoagulants (OAC) are a standard and highly efficacious treatment for venous thromboembolism (VTE), with newer direct oral anticoagulants (DOACs; rivaroxaban and apixaban) equ...

Introduction: Psychosocial factors (social isolation, social support, trait anger, and depressive symptoms) are associated with cardiovascular disease risk factors and incidence; few studies invest...

Introduction: Diabetes has been tied to infection risk in mechanistic studies. However, the relationship between diabetes and infection hasn't been well documented in epidemiologic studies, especia...

Introduction: Hypertension in midlife, but not late life, is a robust predictor of subsequent dementia. However, the fraction of dementia attributable to hypertension might vary depending on the ag...

Introduction: Diabetes is associated with both dementia and death. Ignoring the competing risk of mortality may result in overestimation of the lifetime of dementia. Hypothesis: The lifetime cumula...

Background: Atrial fibrillation (AF) is a significant risk factor for stroke, with oral anticoagulants (OACs) recommended for stroke prevention. However, a nonpharmacologic option is needed for pat...

Introduction: Medication non-adherence increases the risk of hospitalization and mortality in older adults. Evidence from previous studies was not conclusive due to small sample size or lack of adj...

Background: Recent evidence indicates that abnormal P-wave parameters (PWPs)-ECG markers of

Background: Hypertension (HTN) while asleep is strongly associated with cardiovascular disease (CVD) and death. Whether HTN while supine in clinic is a risk factor for CVD independent of seated BP ...

Rationale: The autonomic nervous system extensively innervates the lungs but its role in COPD outcomes has not been well-studied. Objective: We assessed relationships between cardiovascular autonom...

Introduction: We evaluated whether better cardiovascular health at midlife and

We previously showed that mutations in LIS1 and DCX account for ∼85% of patients with the classic form of lissencephaly (LIS). Some rare forms of LIS are associated with a disproportionately small cerebellum, referred to as lissencephaly with cerebellar hypoplasia (LCH). Tubulin alpha1A (TUBA1A), encoding a critical structural subunit of microtubules, has recently been implicated in LIS. Here, we screen the largest cohort of unexplained LIS patients examined to date to determine: (i) the frequency of TUBA1A mutations in patients with lissencephaly, (ii) the spectrum of phenotypes associated with TUBA1A mutations and (iii) the functional consequences of different TUBA1A mutations on microtubule function. We identified novel and recurrent TUBA1A mutations in ∼1% of children with classic LIS and in ∼30% of children with LCH, making this the first major gene associated with the rare LCH phenotype. We also unexpectedly found a TUBA1A mutation in one child with agenesis of the corpus callosum and cerebellar hypoplasia without LIS. Thus, our data demonstrate a wider spectrum of phenotypes than previously reported and allow us to propose new recommendations for clinical testing. We also provide cellular and structural data suggesting that LIS-associated mutations of TUBA1A operate via diverse mechanisms that include disruption of binding sites for microtubule-associated proteins (MAPs).

Introduction: Matrix metalloproteinases (MMPs), belong to a family of zinc-dependent endopeptidases, have been found to induce stroke through its role in extracellular matrix destruction. MMPs also...

Introduction: Sodium-glucose cotransporter-2 (SGLT2) inhibitors are a class of antihyperglycemic drugs recommended to patients with type 2 diabetes (T2D) as a 2nd line therapy after metformin. Rece...