Designing and implementing the IDEAL Study: A randomized clinical trial of genotype disclosure for late-onset Alzheimer's disease in an urban Latino population.

Introduction: The (IDEAL) Study is a randomized clinical trial investigating the psychosocial, behavioral, and cognitive impacts of apolipoprotein E () genotype disclosure for late-onset Alzheimer's disease (AD) among Latinos.

Methods: We used address-based sampling to recruit English- and Spanish-speaking Latinos aged 40-64 living in northern Manhattan for a community-based Baseline Survey about their knowledge and opinions about AD. Participants eligible for the clinical trial were invited to complete an Introductory Session, including AD and genetics education and informed consent, before undergoing genotyping for .

Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR.

Lesional focal epilepsy (LFE) is a common and severe seizure disorder caused by epileptogenic lesions, including malformations of cortical development (MCD) and low-grade epilepsy-associated tumors (LEAT). Understanding the genetic etiology of these lesions can inform medical and surgical treatment. We conducted a somatic variant enrichment mega-analysis in brain tissue from 1386 individuals who underwent epilepsy surgery, including 599 previously unpublished individuals with ultra-deep ( > 1600x) targeted panel sequencing.

Implementation of an Outpatient Clinical Pharmacy Service at an Adult Cystic Fibrosis Center.

Background: High treatment burden can adversely impact health outcomes in people with cystic fibrosis (PwCF). There is a continued need for medication adherence education and further research to evaluate impact of CF pharmacist interventions in an ambulatory care setting.

Objective(s): To evaluate whether pharmacist integration into an outpatient adult CF clinic can positively impact patient satisfaction and medication adherence through various pharmacist-based interventions.

Cue-based modulation of pain stimulus expectation: do ongoing oscillations reflect changes in pain perception? A registered report.

A promising stream of investigations is targeting ongoing neural oscillations and whether their modulation could be related to the perception of pain. Using an electroencephalography (EEG) frequency-tagging approach, sustained periodic thermonociceptive stimuli perceived as painful have been shown to modulate ongoing oscillations in the theta, alpha and beta bands at the frequency of stimulation. Nonetheless, it remains uncertain whether these modulations are indeed linked to pain perception.

Gut colonization with multidrug resistant organisms in the intensive care unit: a systematic review and meta-analysis.

Background: Gut colonization with multidrug-resistant organisms (MDRO) frequently precedes infection among patients in the intensive care unit (ICU), although the dynamics of colonization are not completely understood. We performed a systematic review and meta-analysis of ICU studies which described the cumulative incidence and rates of MDRO gut acquisition.

Methods: We systematically searched PubMed, Embase, and Web of Science for studies published from 2010 to 2023 reporting on gut acquisition of MDRO in the ICU.

Change in parental knowledge and beliefs about early childhood dental caries following a pragmatic community-based trial.

Objectives: To evaluate parent knowledge and belief changes following the MySmileBuddy (MSB) early childhood caries (ECC) intervention.

Methods: Pre- and post-intervention surveys were completed by 669 parents of children with visually-evident ECC from among 977 participants in a 6-12-month pragmatic community-based caries management trial administered by community health workers (CHWs). Six domains of knowledge about caries and motivating and facilitating determinants were assessed via 26 survey items.

mTOR Inhibition Prolongs Survival and Has Beneficial Effects on Heart Function After Onset of Lamin A/C Gene Mutation Cardiomyopathy in Mice.

Background: Mutations in encoding nuclear envelope proteins lamin A/C cause dilated cardiomyopathy. Activation of the AKT/mTOR (RAC-α serine/threonine-protein kinase/mammalian target of rapamycin) pathway is implicated as a potential pathophysiologic mechanism. The aim of this study was to assess whether pharmacological inhibition of mTOR signaling has beneficial effects on heart function and prolongs survival in a mouse model of the disease, after onset of heart failure.

Polygenic burden and its association with baseline cognitive function and postoperative cognitive outcome in temporal lobe epilepsy.

Objective: Demographic and disease factors are associated with cognitive deficits and postoperative cognitive declines in adults with pharmacoresistant temporal lobe epilepsy (TLE), but the role of genetic factors in cognition in TLE is not well understood. Polygenic scores (PGS) for neurological and neuropsychiatric disorders and IQ have been associated with cognition in patient and healthy populations. In this exploratory study, we examined the relationship between PGS for Alzheimer's disease (AD), depression, and IQ and cognitive outcomes in adults with TLE.

Rain may improve survival from direct lightning strikes to the human head.

There is evidence that humans can survive a direct lightning strike to the head. Our question is: could water (rain) on the skin contribute to an increase in the survival rate? We measure the influence of rain during high-energy direct lightning strikes on a realistic three-compartment human head phantom. We find a lower number of perforations and eroded areas near the lightning strike impact points on the head phantom when rain was applied compared to no rain.

A patient-enriched MEIS1 coding variant causes a restless legs syndrome-like phenotype in mice.

Restless legs syndrome (RLS) is a neurological disorder characterized by uncomfortable or unpleasant sensations in the legs during rest periods. To relieve these sensations, patients move their legs, causing sleep disruption. While the pathogenesis of RLS has yet to be resolved, there is a strong genetic association with the MEIS1 gene.

Aldo-keto reductase family member C3 (AKR1C3) promotes hepatocellular carcinoma cell growth by producing prostaglandin F2α.

Hepatocellular carcinoma (HCC) is a leading cause of death worldwide. Current therapies are effective for HCC patients with early disease, but many patients suffer recurrence after surgery and have a poor response to chemotherapy. Therefore, new therapeutic targets are needed.

Randomized adaptive selection trial of cryotherapy, compression therapy, and placebo to prevent taxane-induced peripheral neuropathy in patients with breast cancer.

Background: Chemotherapy-induced peripheral neuropathy (CIPN) is a common and debilitating adverse effect of taxane therapy. Small non-randomized studies in patients with early-stage breast cancer (ESBC) suggest both cryotherapy and compression therapy may prevent CIPN. It is unknown which is more effective.

Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb.

Focal cortical dysplasia type II (FCDII) is the most common cause of drug-resistant focal epilepsy in children. Herein, we performed a deep histopathology-based genotype-phenotype analysis to further elucidate the clinico-pathological and genetic presentation of FCDIIa compared to FCDIIb. Seventeen individuals with histopathologically confirmed diagnosis of FCD ILAE Type II and a pathogenic variant detected in brain derived DNA whole-exome sequencing or mTOR gene panel sequencing were included in this study.

The role of ongoing oscillation in pain perception: Absence of modulation by a concomitant arithmetic task.

Sustained nociceptive stimuli have been shown to modulate the amplitude of ongoing neural oscillations in the theta, alpha and beta frequency bands at the frequency of stimulation, suggesting a relationship between these ongoing oscillations and pain perception. Yet, whether these ongoing oscillations are actually related to the pain experience remains unclear. If it were the case, then cognitive processes that are known to affect pain intensity should also affect these ongoing oscillations.

Behavioral Outcomes of a Pragmatic Early Childhood Caries Management Trial.

Objectives: To evaluate a preventative behavioral intervention for managing early childhood caries (ECC) in a cohort of high-risk children.

Methods: This pragmatic trial of the MySmileBuddy Program (MSB) evaluated preventive behavioral outcomes in a 1-y community health worker-delivered intervention to prevent ECC progression. Pre-/postintervention surveys assessed parent-reported child engagement in therapeutic toothbrushing (i.