Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.

Genome-sequence-based newborn screening (gNBS) has substantial potential to improve outcomes in hundreds of severe childhood genetic disorders (SCGDs). However, a major impediment to gNBS is imprecision due to variants classified as pathogenic (P) or likely pathogenic (LP) that are not SCGD causal. gNBS with 53,855 P/LP variants, 342 genes, 412 SCGDs, and 1,603 therapies was positive in 74% of UK Biobank (UKB470K) adults, suggesting 97% false positives.

Toward real-time reporting of cancer incidence: methodology, pilot study, and SEER Program implementation.

Background: A lag time between cancer case diagnosis and incidence reporting impedes the ability to monitor the impact of recent events on cancer incidence. Currently, the data submission standard is 22 months after a diagnosis year ends, and the reporting standard is 27.5 months after a diagnosis year ends.

A randomized, double-blind, controlled study evaluating the effects of two facial serums on skin aging.

Background: Skin aging is a natural process that occurs because of oxidative stress. Facial skin aging is often concerning for individuals due to the exposure of the face.

Objectives: To assess and compare the effects of two anti-aging facial serums on the following characteristics associated with facial skin aging: fine lines/wrinkles, age spots, firmness, elasticity, texture, radiance, tone, lifting, clarity, and complexion.

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders by treatment before symptom onset. In many genetic diseases, however, outcomes remain poor because NBS has lagged behind drug development. Rapid whole-genome sequencing (rWGS) is attractive for comprehensive NBS because it concomitantly examines almost all genetic diseases and is gaining acceptance for genetic disease diagnosis in ill newborns.

Standardized Training for Physicians Practicing Pediatric Cardiac Critical Care.

Objectives: In the vast majority of Children's Hospitals, the critically ill patient can be found in one of three locations: the PICU, the neonatal ICU, and the cardiac ICU. Training, certification, and maintenance of certification for neonatology and critical care medicine are over seen by the Accreditation Council for Graduate Medical Education and American Board of Pediatrics. There is no standardization of training or oversight of certification and maintenance of certification for pediatric cardiac critical care.

Systemic GFP silencing is associated with high transgene expression in Nicotiana benthamiana.

Gene silencing in plants using topical dsRNA is a new approach that has the potential to be a sustainable component of the agricultural production systems of the future. However, more research is needed to enable this technology as an economical and efficacious supplement to current crop protection practices. Systemic gene silencing is one key enabling aspect.

Zeaxanthin-based dietary supplement and topical serum improve hydration and reduce wrinkle count in female subjects.

Background: Dietary modification, through supplementation and elimination diets, has become an area of interest to help slow skin aging, reduce symptom severity or prevent reoccurrence of certain dermatologic conditions [Clinical Dermatology vol. 31 (2013) 677-700]. Free radical components (reactive oxygen species or ROS) or lipid peroxide (LPO) is involved in the pathogenesis and progression of accelerated skin aging when prolonged oxidative stress occurs.

Human papillomavirus and diseases of the upper airway: head and neck cancer and respiratory papillomatosis.

Human papillomavirus (HPV) infection is causally associated with benign and malignant diseases of the upper airway, including respiratory papillomatosis and oropharyngeal cancer. Low-risk HPV types 6 and 11 are the predominant cause of papillomatosis, whereas only HPV16 definitively satisfies both molecular and epidemiological causal criteria as a carcinogenic or high-risk type in the upper airway. HPV16 E6/E7 mRNA expression and integration are observed predominantly among oropharyngeal cancers, and experimental models have shown E6/E7 expression to be necessary for the initiation and maintenance of the malignant phenotype of these cancers.

The formation of Anthocyanic Vacuolar Inclusions in Arabidopsis thaliana and implications for the sequestration of anthocyanin pigments.

Anthocyanins are flavonoid pigments that accumulate in the large central vacuole of most plants. Inside the vacuole, anthocyanins can be found uniformly distributed or as part of sub-vacuolar pigment bodies, the Anthocyanic Vacuolar Inclusions (AVIs). Using Arabidopsis seedlings grown under anthocyanin-inductive conditions as a model to understand how AVIs are formed, we show here that the accumulation of AVIs strongly correlates with the formation of cyanidin 3-glucoside (C3G) and derivatives.

Correlates of depression at baseline among African Americans enrolled in cardiac rehabilitation.

Purpose: To compare baseline psychosocial characteristics of African Americans entering phase 2 cardiac rehabilitation who have depression symptoms at or above threshold (Center for Epidemiological Studies Depression Scale [CES-D] score >or=16) with those who do not (CES-D score <16).

Methods: A nonrandom sample of 112 men and women (n = 78 without depression, n = 34 with depression) was recruited through local phase 2 cardiac rehabilitation programs. Data were obtained by a structured interview and brief physical examination using several reliable and valid instruments.

Ventilator-associated pneumonia in the pediatric intensive care unit: characterizing the problem and implementing a sustainable solution.

Objectives: To characterize ventilator-associated pneumonia (VAP) in our pediatric intensive care unit (PICU), implement an evidence-based pediatric VAP prevention bundle, and reduce VAP rates.

Study Design: The setting is a 25-bed PICU in a 475-bed free-standing pediatric academic medical center. VAP was diagnosed according to Centers for Disease Control and National Nosocomial Infections Surveillance System definitions.

Cryosurgery: an innovative technique for the treatment of plantar fasciitis.

A prospective study testing the efficacy of cryosurgery on painful plantar fasciitis of the heel was performed. Cryosurgery, a minimally invasive, percutaneous, office-based technique, was used to treat 59 consecutive patients (61 heels), who had failed prior conservative therapy and were considered surgical candidates. Patients were evaluated on an 11-point visual analog scale administered preoperatively and up to 1 year of follow-up.

Rapid, specific, and sensitive detection of spoilage molds in orange juice using a real-time Taqman PCR assay.

The outgrowth of spoilage organisms, including molds and yeasts, results in significant financial loss to the food industry and wastes natural resources. The objective of this study was to develop a rapid, specific, and sensitive real-time PCR method for detecting spoilage molds during screening of raw materials and final product quality control analysis. The 18S rRNA gene was used to develop PCR primers and probe.

The effect of pesticide spraying on the rate and severity of ED asthma.

We report on the incidence of emergency department (ED) asthma presentations and admissions to the Lincoln Hospital, located in the South Bronx of New York City, during the 1999 eradication program of the mosquito vector for West Nile virus. Spraying of Malathion and Resmethrin occurred in the hospital's geographic area over 4 days in September 1999. During that time, 1318 pediatric and adult patients were seen in the ED for asthma-related symptoms.