The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges.

Newborn screening programs have seen significant evolution since their initial implementation more than 60 years ago, with the primary goal of detecting treatable conditions within the earliest possible timeframe to ensure the optimal treatment and outcomes for the newborn. New technologies have driven the expansion of screening programs to cover additional conditions. In the current era, the breadth of screened conditions could be further expanded by integrating omic technologies such as untargeted metabolomics and genomics.

A rapid method for the screening of fatty acids in lipids in plasma or serum without prior extraction.

Serum or plasma are the commonly used blood fractions to determine the relationship between dietary and circulating fatty acids in health and disease. Most methods available for the measurement of fatty acids in serum or plasma (referred to as serum henceforth) require prior extraction with organic solvents. We have determined that it is possible to directly convert the lipids in aqueous biological samples to fatty acid methyl esters (FAME) without prior extraction, providing that the ratio of serum to transmethylation solvent does not exceed 10%.

BrHgO + CH and BrHgO + HCHO in Atmospheric Oxidation of Mercury: Determining Rate Constants of Reactions with Prereactive Complexes and Bifurcation.

Models suggest BrHgONO to be the major Hg(II) species formed in the global oxidation of Hg(0), and BrHgONO undergoes rapid photolysis to produce the thermally stable radical BrHgO. We previously used quantum chemistry to demonstrate that BrHgO can, like OH radicals, readily abstract hydrogen atoms from sp-hybridized carbon atoms as well as add to NO and NO. In the present work, we reveal that BrHgO can also add to CH to form BrHgOCHCH, although this addition appears to proceed with a lower rate constant than the analogous addition of OH to CH.

Multi-institutional Clinical Tool for Predicting High-risk Lesions on 3Tesla Multiparametric Prostate Magnetic Resonance Imaging.

Background: Multiparametric magnetic resonance imaging (mpMRI) for prostate cancer detection without careful patient selection may lead to excessive resource utilization and costs.

Objective: To develop and validate a clinical tool for predicting the presence of high-risk lesions on mpMRI.

Design, Setting, And Participants: Four tertiary care centers were included in this retrospective and prospective study (BiRCH Study Collaborative).

Computational Study on the Photolysis of BrHgONO and the Reactions of BrHgO with CH, CH, NO, and NO: Implications for Formation of Hg(II) Compounds in the Atmosphere.

Global models suggest BrHgONO to be the major Hg(II) species initially formed in atmospheric oxidation of Hg(0) in most of the atmosphere, but its atmospheric fate has not been previously investigated. In the present work, we use quantum chemistry to predict that BrHgONO photolysis produces the thermally stable radical BrHgO. Subsequently, BrHgO may react with NO to form thermally stable BrHgONO, or with NO to re-form BrHgONO.

Positive Auto-Antibody Activity With Retina and Optic Nerve in Smokers and Non-Smokers: The Controversy Continues.

Auto-antibodies assist with the diagnosis of ocular paraneoplastic syndromes and autoimmune ocular conditions; however, the frequency of positive test results as a possible precursor to future disease is unknown. The frequency of positive antibodies in heavy smokers who may be at risk for autoimmune-related retinopathy and optic neuropathy was evaluated. Serum antibody activity was evaluated through the use of Western blot reactions from pig retina and optic nerve extract.

Perimetry, retinal nerve fiber layer thickness and papilledema grade after cerebrospinal fluid shunting in patients with idiopathic intracranial hypertension.

Background: To investigate the effect of cerebrospinal fluid (CSF) shunting on quantitative perimetry and papilledema in patients with uncontrolled idiopathic intracranial hypertension (IIH).

Methods: We retrospectively reviewed all cases of IIH with CSF shunting at our institution between 2004 and 2011. Perimetry was performed before and after surgery in 15 patients, and the mean deviation (MD) was compared before and after surgery to assess the effect of the intervention.

Randomized controlled trial of pegylated interferon-alfa 2a and ribavirin in treatment-naive chronic hepatitis C genotype 6.

Unlabelled: Hepatitis C virus (HCV) genotype is an important criteria in determining duration of therapy and predictor of sustained virologic response (SVR) to pegylated interferon (PEG IFN) and ribavirin (RBV) therapy. Optimal duration of therapy for patients with HCV genotype 6 is not known. We conducted a multicenter, open-label randomized controlled trial of patients with HCV genotype 6 at five gastroenterology clinics in the western U.

Comparison of surrogate and direct measurement of insulin resistance in chronic hepatitis C virus infection: impact of obesity and ethnicity.

Unlabelled: Studies using surrogate estimates show high prevalence of insulin resistance in hepatitis C infection. This study prospectively evaluated the correlation between surrogate and directly measured estimates of insulin resistance and the impact of obesity and ethnicity on this relationship. Eighty-six nondiabetic, noncirrhotic patients with hepatitis C virus (age = 48 +/- 7 years, 74% male, 44% white, 22% African American, 26% Latino, 70% genotype 1) were categorized into normal-weight (body mass index [BMI] < 25, n = 30), overweight (BMI = 25-29.

Adherence to screening for hepatocellular carcinoma among patients with cirrhosis or chronic hepatitis B in a community setting.

Background: Screening for hepatocellular carcinoma (HCC) has been shown to improve survival via earlier cancer detection. Although HCC screening is considered standard of care in the USA, little is known of the adherence to this practice, especially in a community setting.

Aims: Our primary goal was to evaluate adherence to HCC screening and to find predictors of screening adherence in a community setting.

Histological disease in Asian-Americans with chronic hepatitis B, high hepatitis B virus DNA, and normal alanine aminotransferase levels.

Objectives: At present there is no clear consensus on how patients with chronic hepatitis B (CHB), high serum hepatitis B virus (HBV) DNA, and normal alanine aminotransferase (NLALT) levels should be managed. This study hypothesizes that a significant proportion of such patients may have histological disease.

Methods: We carried out a retrospective study of 101 consecutive treatment-naive patients with CHB who underwent liver biopsies at a community gastroenterology clinic and had high HBV DNA and NLALT (< or = 40 U/l) levels at the time of biopsy.

Prevalence of colorectal neoplasms in Asian Americans.

Purpose: To determine the yield of colonoscopy in a predominantly Asian American gastroenterology practice in California from 8/2003 to 2/2005.

Results: A total 2,723 subjects were included: 87% were Asian and 13% were non-Asian. Advanced neoplasia prevalence was 12% in Asian men and 9% in non-Asian men (P = 0.

Low proportion of Barrett's esophagus in Asian Americans.

Objectives: To determine the proportion of Barrett's esophagus (BE) in Asians versus non-Asians and the predictors of BE in patients with upper gastrointestinal (GI) symptoms.

Methods: We performed a cross-sectional study to determine the proportion of BE from all consecutive patients who underwent esophagogastroduodenoscopy (EGD) for various indications at an outpatient, community-based gastroenterology practice in northern California from February 2000 to September 2006. BE was defined as endoscopically recognized presence of salmon-pink mucosa in the distal esophagus and intestinal metaplasia on biopsy.

Higher rate of sustained virologic response in chronic hepatitis C genotype 6 treated with 48 weeks versus 24 weeks of peginterferon plus ribavirin.

Objectives: Infection with hepatitis C virus (HCV) genotype 6 is common in patients from parts of China and Southeast Asia. No study to date has examined the treatment response to peginterferon and ribavirin (PEG IFN + RBV) in these patients, or the effects of treatment duration on sustained virologic response (SVR) rates.

Methods: We performed a retrospective study of 190 consecutive Asian-American patients who were diagnosed with HCV genotype 6 at a gastroenterology clinic in northern California between 2001 and 2004, 66 of whom were treatment-naïve and subsequently completed 24 wk of IFN + RBV or PEG IFN + RBV or 48 wk of PEG IFN + RBV therapy.