Effectiveness of a Novel Feeding Algorithm for Oral Feeding Transition of Infants Born Prematurely.

Background: Feeding skill acquisition is commonly a limiting factor determining when an infant born prematurely can be discharged.

Purpose: This study aimed to determine if the addition of a novel feeding progression algorithm (combination of objective data from a suck measurement device and slow flow/low variability nipples) to current neonatal intensive care unit (NICU) standards could decrease feeding-related length of stay (primary outcome). We hypothesized that by timing the initiation of oral feedings to coincide with adequate sensory-motor skill development, feeding-related length of stay may be decreased.

Activin E is a transforming growth factor β ligand that signals specifically through activin receptor-like kinase 7.

Activins are one of the three distinct subclasses within the greater Transforming growth factor β (TGFβ) superfamily. First discovered for their critical roles in reproductive biology, activins have since been shown to alter cellular differentiation and proliferation. At present, members of the activin subclass include activin A (ActA), ActB, ActC, ActE, and the more distant members myostatin and GDF11.

Transcript-aware analysis of rare predicted loss-of-function variants in the UK Biobank elucidate new isoform-trait associations.

A single gene can produce multiple transcripts with distinct molecular functions. Rare-variant association tests often aggregate all coding variants across individual genes, without accounting for the variants' presence or consequence in resulting transcript isoforms. To evaluate the utility of transcript-aware variant sets, rare predicted loss-of-function (pLOF) variants were aggregated for 17,035 protein-coding genes using 55,558 distinct transcript-specific variant sets.

Impact of firefighter hood design on range of motion, noise production and hearing.

Firefighter hoods must provide protection from elevated temperatures and products of combustion while simultaneously being comfortable and limiting interference with firefighting movement or completion of fireground activities. This study was to quantify the impact of hood design (traditional knit hood vs. several models of particulate-blocking hoods) on wearability measures such as range of motion, noise production and hearing threshold.

Activin E is a TGFβ ligand that signals specifically through activin receptor-like kinase 7.

Activins are one of the three distinct subclasses within the greater Transforming Growth Factor β (TGFβ) superfamily. First discovered for their critical roles in reproductive biology, activins have since been shown to alter cellular differentiation and proliferation. At present, members of the activin subclass include activin A (ActA), ActB, ActC, ActE, and the more distant members myostatin and GDF11.

Advancing diagnosis and management of liver disease in adults through exome sequencing.

Background: Whole-exome sequencing (WES) is an effective tool for diagnosis in patients who remain undiagnosed despite a comprehensive clinical work-up. While WES is being used increasingly in pediatrics and oncology, it remains underutilized in non-oncological adult medicine, including in patients with liver disease, in part based on the faulty premise that adults are unlikely to harbor rare genetic variants with large effect size. Here, we aim to assess the burden of rare genetic variants underlying liver disease in adults at two major tertiary referral academic medical centers.

Using human genetics to improve safety assessment of therapeutics.

Human genetics research has discovered thousands of proteins associated with complex and rare diseases. Genome-wide association studies (GWAS) and studies of Mendelian disease have resulted in an increased understanding of the role of gene function and regulation in human conditions. Although the application of human genetics has been explored primarily as a method to identify potential drug targets and support their relevance to disease in humans, there is increasing interest in using genetic data to identify potential safety liabilities of modulating a given target.

Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity.

Identifying genetic variants associated with lower waist-to-hip ratio can reveal new therapeutic targets for abdominal obesity. We use exome sequences from 362,679 individuals to identify genes associated with waist-to-hip ratio adjusted for BMI (WHRadjBMI), a surrogate for abdominal fat that is causally linked to type 2 diabetes and coronary heart disease. Predicted loss of function (pLOF) variants in INHBE associate with lower WHRadjBMI and this association replicates in data from AMP-T2D-GENES.

GDP, wellbeing, and health: thoughts on the 2017 round of the International Comparison Program.

In March 2020, the International Comparison Project published its latest results, for the calendar year 2017. This round presents common-unit or purchasing-power-parity data for 176 countries on Gross Domestic Product and its components. We review a number of important issues, what is new, what is not new, and what the new data can and cannot do.

Rare coding variants in DNA damage repair genes associated with timing of natural menopause.

The age of menopause is associated with fertility and disease risk, and its genetic control is of great interest. We use whole-exome sequences from 132,370 women in the UK Biobank to test for associations between rare damaging variants and age at natural menopause. Rare damaging variants in five genes are significantly associated with menopause: (p = 3.

Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes.

Sequencing of large cohorts offers an unprecedented opportunity to identify rare genetic variants and to find novel contributors to human disease. We used gene-based collapsing tests to identify genes associated with glucose, HbA1c and type 2 diabetes (T2D) diagnosis in 379,066 exome-sequenced participants in the UK Biobank. We identified associations for variants in GCK, HNF1A and PDX1, which are known to be involved in Mendelian forms of diabetes.

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.

Understanding mechanisms of hepatocellular damage may lead to new treatments for liver disease, and genome-wide association studies (GWAS) of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) serum activities have proven useful for investigating liver biology. Here we report 100 loci associating with both enzymes, using GWAS across 411,048 subjects in the UK Biobank. The rare missense variant SLC30A10 Thr95Ile (rs188273166) associates with the largest elevation of both enzymes, and this association replicates in the DiscovEHR study.

COVID-19 and Global Income Inequality.

There is a widespread belief that the COVID-19 pandemic has increased global income inequality, reducing per capita incomes by more in poor countries than in rich. This supposition is reasonable but false. Rich countries have experienced more deaths per head than have poor countries, their better health systems, higher incomes, more capable governments and better preparedness notwithstanding.

Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry.

Hereditary transthyretin-mediated (hATTR) amyloidosis is an underdiagnosed, progressively debilitating disease caused by mutations in the transthyretin (TTR) gene. V122I, a common pathogenic TTR mutation, is found in 3-4% of individuals of African ancestry in the United States and has been associated with cardiomyopathy and heart failure. To better understand the phenotypic consequences of carrying V122I, we conducted a phenome-wide association study scanning 427 ICD diagnosis codes in UK Biobank participants of African ancestry (n = 6062).

Life expectancy in adulthood is falling for those without a BA degree, but as educational gaps have widened, racial gaps have narrowed.

A 4-y college degree is increasingly the key to good jobs and, ultimately, to good lives in an ever-more meritocratic and unequal society. The bachelor's degree (BA) is increasingly dividing Americans; the one-third with a BA or more live longer and more prosperous lives, while the two-thirds without face rising mortality and declining prospects. We construct a time series, from 1990 to 2018, of a summary of each year's mortality rates and expected years lived from 25 to 75 at the fixed mortality rates of that year.

Effects of firefighting hood design, laundering and doffing on smoke protection, heat stress and wearability.

Firefighter hoods must provide protection from elevated temperatures and products of combustion (e.g. particulate) while simultaneously being wearable (comfortable and not interfering with firefighting activities).

Decoding the mystery of American pain reveals a warning for the future.

There is an expectation that, on average, pain will increase with age, through accumulated injury, physical wear and tear, and an increasing burden of disease. Consistent with that expectation, pain rises with age into old age in other wealthy countries. However, in America today, the elderly report less pain than those in midlife.

Nonclinical cardiovascular safety evaluation of romosozumab, an inhibitor of sclerostin for the treatment of osteoporosis in postmenopausal women at high risk of fracture.

Romosozumab (EVENITY™ [romosozumab-aqqg in the US]) is a humanized monoclonal antibody that inhibits sclerostin and has been approved in several countries for the treatment of osteoporosis in postmenopausal women at high risk of fracture. Sclerostin is expressed in bone and aortic vascular smooth muscle (AVSM). Its function in AVSM is unclear but it has been proposed to inhibit vascular calcification, atheroprogression, and inflammation.

Author Correction: Phenotypes associated with genes encoding drug targets are predictive of clinical trial side effects.

In the original version of this article, there were errors in the labelling of the colours in the key of Figure 2, whereby the labeling of the third and fourth of the four colours was reversed. This has been corrected in both the PDF and HTML versions of the article.