Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning.

One of the most common congenital metabolic disorders is familial hypercholesterolemia. Familial hypercholesterolemia is a condition caused by a type of genetic defect leading to a decreased rate of removal of low-density lipoproteins from the bloodstream and a pronounced increase in the blood level of total cholesterol. This disease leads to the early development of cardiovascular diseases of atherosclerotic etiology.

Momentum-Space Imaging of Ultra-Thin Electron Liquids in δ-Doped Silicon.

Two-dimensional dopant layers (δ-layers) in semiconductors provide the high-mobility electron liquids (2DELs) needed for nanoscale quantum-electronic devices. Key parameters such as carrier densities, effective masses, and confinement thicknesses for 2DELs have traditionally been extracted from quantum magnetotransport. In principle, the parameters are immediately readable from the one-electron spectral function that can be measured by angle-resolved photoemission spectroscopy (ARPES).

Common Issues in Prenatal Care: Antepartum Fetal Surveillance.

Patients at increased risk of stillbirth should be assessed with antepartum fetal surveillance (AFS) tests at regular intervals. In general, AFS should begin at the gestational age at which delivery would be considered. Most surveillance tests are performed weekly, but more frequent testing should be considered for patients with high-risk conditions.

Common Issues in Prenatal Care: Fetal Growth Restriction.

Fetal growth restriction (FGR) is defined as an ultrasound (US)-determined estimated fetal weight or abdominal circumference less than the 10th percentile according to a population level reference curve. FGR affects up to 10% of pregnancies. Fetuses with FGR are at increased risk of intrauterine mortality and, postnatally, neonatal intraventricular hemorrhage, necrotizing enterocolitis, respiratory distress, hypoglycemia, and suboptimal neurologic, behavioral, and cognitive development.

Common Issues in Prenatal Care: Gestational Diabetes.

Two screening approaches are used to detect gestational diabetes, the 1-step and 2-step methods. The 1-step method is diagnostic and consists of a 75-g, 2-hour oral glucose tolerance test (OGTT). The 2-step method consists of a 50-g, 1-hour glucose challenge test, followed by a 100-g, 3-hr OGTT if initial test results are positive.