Publications by authors named "Kay D"

The β-sitosterol-β-ᴅ-glucoside (BSSG) rat model of experimental parkinsonism develops pathological behaviour and motor changes that progress over time. The purpose of this study was to identify early changes in structure and function of the brain of rats treated with BSSG using both structural and resting-state functional MRI. BSSG and non-BSSG rats were fed five days a week for sixteen weeks, then underwent in vivo MRI scans and an assessment of motor performance 2 and 8 weeks later (18 and week 24 from BSSG).

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The non-polymorphic HLA-E molecule offers opportunities for new universal immunotherapeutic approaches to chronic infectious diseases. Chronic Hepatitis B virus (HBV) infection is driven in part by T cell dysfunction due to elevated levels of the HBV envelope (Env) protein hepatitis B surface antigen (HBsAg). Here we report the characterization of three genotypic variants of an HLA-E-binding HBsAg peptide, Env identified through bioinformatic predictions and verified by biochemical and cellular assays.

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  • - New York State added CFTR gene sequencing to Cystic Fibrosis newborn screening in December 2017 to minimize false positives, leading to a higher identification of infants with inconclusive diagnoses, known as CRMS/CFSPID.
  • - An analysis of 375 screen-positive newborns from 2017 to 2020 revealed that 59.5% were classified as CRMS/CFSPID, with a majority carrying CF-related variants, but all sweat chloride test results remained below the threshold for diagnosis over 1-3 years.
  • - The findings suggest the need for updated clinical guidelines to better manage and support infants with CRMS/CFSPID, as no infants converted to a definitive CF diagnosis during
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Pulmonary hypertension (PH) is a vascular disease characterized by pulmonary artery remodeling and right heart failure. PH related to COPD is a precapillary form of the disease, with hemodynamic measurements including a mean pulmonary artery pressure of greater than 20 mm Hg, a wedge pressure of less than 15 mm Hg, and a pulmonary vascular resistance of greater than 3 WU (Woods units), categorized under the World Health Organization classification as group 3. The presence of PH in COPD has been known to increase morbidity and mortality.

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  • The ongoing GUARDIAN study aims to evaluate the feasibility and acceptability of genome sequencing as an addition to traditional newborn screening across diverse racial and ethnic groups in New York City.
  • As of the interim analysis covering 4,000 newborns, 72% of approached families consented to participate, reflecting a representative sample of various racial and ethnic demographics.
  • The study primarily assessed the screen-positive rate, enrollment rate, and successful sequencing completion, with a large majority of families opting to screen for both early-onset genetic conditions and additional neurodevelopmental disorders.
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Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown.

Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model.

Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.

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Objectives: The current literature lacks a clear evaluation of the effectiveness of Cognitive Behavioral Therapy for Insomnia (CBT-I) on acute insomnia. Our study aims to address this issue through a systematic review and meta-analysis of Randomized Controlled Trials (RCTs).

Method: We systematically searched PubMed, Embase, and Cochrane Library in April 2024 for RCTs comparing patients with clinically significant insomnia symptoms for less than 6 months (ie, acute insomnia) assigned to 1-6 weeks of CBT-I versus no CBT-I.

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Background: Parkinson's disease (PD) is associated with both sleep disturbances and apathy, and within PD, apathy has been associated with REM behavior disorder and excessive daytime sleepiness. Whether other forms of sleep disturbance are similarly associated with apathy in PD remains unclear. This study explored associations between a broad array of sleep disturbances and apathy in 50 individuals with idiopathic PD (PD) and 48 matched controls (MC).

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Purpose: Healthcare professionals experience stressors that begin during training and persist into their careers that adversely impact their well-being. This study aims to identify students' and professionals' stress levels, satisfaction with wellness domains, barriers to wellness, and stress management practices.

Design: This study was a cross-sectional self-reported survey study.

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Protein post-translational modifications (PTMs) play an intricate role in a diverse range of cellular processes creating a complex PTM code that governs cell homeostasis. Understanding the molecular build-up and the critical factors regulating this PTM code is essential for targeted therapeutic design whereby PTM mis-regulation is prevalent. Here, we focus on Pin1, a peptidyl-prolyl cis-trans isomerase whose regulatory function is altered by a diverse range of PTMs.

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Introduction: As climate change is threatening every region of the world, extreme weather events resultant of global warming is occurring at increasing rate and scale in Malaysia. Weather-related disasters such as flood and haze pose critical challenges to the infrastructure and raise public health concerns in the country, especially when main economic sectors rely heavily on climate variability. Public perception on environmental issues is crucial for development of pro-environmental policies.

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  • Primary congenital glaucoma (PCG) affects about 1 in 10,000 infants in the U.S. and has a genetic basis that is not fully understood, with CYP1B1 being the most commonly mutated gene.
  • * The study investigated the genetics of PCG by analyzing 37 family trios through exome sequencing, looking for genetic variants that might contribute to the condition.
  • * Results showed that while CYP1B1 was present in some cases, 32% of infants had potentially harmful variants in other genes related to eye development, suggesting more complex genetics behind PCG.
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  • Pulmonary hypertension (PH) in patients with left heart disease (PH-LHD) is linked to poorer outcomes, and current risk prediction tools may not effectively predict mortality for these patients.
  • A study analyzed data from 161 PH-LHD patients, using the REVEAL 2.0 risk score to categorize them into low, intermediate, or high-risk groups, and assessed their survival over 1 and 3 years.
  • While high-risk patients showed significantly worse 3-year survival rates, the distinction between intermediate and low-risk patients was not statistically significant, indicating potential flaws in the classification system for the intermediate group.
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Background: New York State (NYS) utilizes a three-tiered cystic fibrosis newborn screening (CFNBS) algorithm that includes cystic fibrosis transmembrane conductance regulator (CFTR) gene sequencing. Infants with >1 CFTR variant of potential clinical relevance, including variants of uncertain significance or varying clinical consequence are referred for diagnostic evaluation at NYS cystic fibrosis (CF) Specialty Care Centers (SCCs).

Aims: As part of ongoing quality improvement efforts, demographic, screening, diagnostic, and clinical data were evaluated for 289 CFNBS-positive infants identified in NYS between December 2017 and November 2020 who did not meet diagnostic criteria for CF and were classified as either: CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis (CRMS/CFSPID) or CF carriers.

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Mouse Double Minute 2 (MDM2) is a key negative regulator of the tumor suppressor protein p53. MDM2 overexpression occurs in many types of cancer and results in the suppression of WT p53. The 14-3-3 family of adaptor proteins are known to bind MDM2 and the 14-3-3σ isoform controls MDM2 cellular localization and stability to inhibit its activity.

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Naturally occurring T cells that recognize microbial peptides via HLA-E, a nonpolymorphic HLA class Ib molecule, could provide the foundation for new universal immunotherapeutics. However, confidence in the biological relevance of putative ligands is crucial, given that the mechanisms by which pathogen-derived peptides can access the HLA-E presentation pathway are poorly understood. We systematically interrogated the HIV proteome using immunopeptidomic and bioinformatic approaches, coupled with biochemical and cellular assays.

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Introduction Most New Zealanders experience low back pain (LBP) at least once throughout their lifetime and many seek help from the large range of health providers in primary care. Accident Compensation Corporation (ACC) funds a significant proportion of those claims, but which services are they funding and what are the costs? Method This was a retrospective audit and descriptive analysis of ACC-funded, non-public hospital healthcare service use by people with LBP in New Zealand (NZ). Outcome measures were the healthcare services accessed by people with ACC-funded LBP,the claims (all occurrences for a service that has generated a payment/year), single contact (with a service), and costs (NZ$) for services between 2009 and 2020.

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Purpose Of Review: The sleep-depression association has been recognized for decades. Efforts to clarify this association continue at an increasing pace. This review summarizes recent research on the sleep-depression association in older adults.

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Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) characterized by hypoplasia of the left ventricle and aorta along with stenosis or atresia of the aortic and mitral valves. HLHS represents only ∼4%-8% of all CHDs but accounts for ∼25% of deaths. HLHS is an isolated defect (i.

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Circadian rhythms are endogenous oscillations with approximately a 24-h period that allow organisms to anticipate the change between day and night. Disruptions that desynchronize or misalign circadian rhythms are associated with an increased risk of cardiometabolic disease. This review focuses on the liver circadian clock as relevant to the risk of developing metabolic diseases including nonalcoholic fatty liver disease (NAFLD), insulin resistance, and type 2 diabetes (T2D).

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Molecular glues are powerful tools for the control of protein-protein interactions. Yet, the mechanisms underlying multi-component protein complex formation remain poorly understood. Native mass spectrometry (MS) detects multiple protein species simultaneously, providing an entry to elucidate these mechanisms.

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Background: Enhanced recovery programs (ERPs) improve outcomes, but over 20 % of patients fail ERP and the contribution of social vulnerability is unknown. This study aimed to characterize the association between social vulnerability and ERP adherence and failure.

Methods: This was a retrospective cohort study of colorectal surgery patients between 2015 and 2020 utilizing ACS-NSQIP data.

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Introduction: Sleep valuation is the relative worth individuals place on sleep. Our prior study using a Sleep Valuation Item Bank (SVIB) showed that sleep valuation relates to age, gender, and health status. In this study, the psychometric properties of the SVIB and its latent factor structure were explored.

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The etiology of biliary atresia (BA) is unknown, but recent studies suggest a role for rare protein-altering variants (PAVs). Exome sequencing data from the National Birth Defects Prevention Study on 54 child-parent trios, one child-mother duo, and 1513 parents of children with other birth defects were analyzed. Most (91%) cases were isolated BA.

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