Updates in Genetic Testing for Head and Neck Vascular Anomalies.

Vascular anomalies include benign or malignant tumors or benign malformations of the arteries, veins, capillaries, or lymphatic vasculature. The genetic etiology of the lesion is essential to define the lesion and can help navigate choice of therapy. .

Generation of single-cell and single-nuclei suspensions from embryonic and adult mouse brains.

Efficient protocols to generate single-cell and single-nuclei suspensions are critical for the burgeoning field of single-cell/single-nuclei sequencing. Here we describe procedures to generate single-cell and single-nuclei suspensions from embryonic and adult mouse brains. This protocol can be modified for any brain region and/or neural cell type.

Promoting regeneration while blocking cell death preserves motor neuron function in a model of ALS.

Amyotrophic lateral sclerosis (ALS) is a devastating and fatal neurodegenerative disease of motor neurons with very few treatment options. We had previously found that motor neuron degeneration in a mouse model of ALS can be delayed by deleting the axon damage sensor MAP3K12 or dual leucine zipper kinase (DLK). However, DLK is also involved in axon regeneration, prompting us to ask whether combining DLK deletion with a way to promote axon regeneration would result in greater motor neuron protection.

Implicit satiety goals and food-related expectations predict portion size in older adults: Findings from the BAMMBE cohort.

Portion size selection is an indicator of appetite and within younger adults, is predicted by factors such as expected satiety, liking and motivations to achieve an ideal sensation of fullness (i.e., implicit satiety goals).

Impact of the COVID-19 pandemic on substance use among adults without children, parents, and adolescents.

Impact of the COVID-19 pandemic on alcohol and illicit substance use among adults without children, parents, and adolescents was investigated through two studies with five samples from independent ongoing U.S. longitudinal studies.

Impact of CYP2B6 genotype, tuberculosis therapy, and formulation on efavirenz pharmacokinetics in infants and children under 40 months of age.

Objective: Dosing efavirenz (EFV) in children less than 3 years of age is challenging due to large variability in drug levels. This study evaluated differences in pharmacokinetics with tuberculosis (TB) therapy, formulation, age, and CYP2B6 genotype.

Design: Pharmacokinetic data from three IMPAACT/PACTG studies (P382, P1021, and P1070) for children initiating therapy less than 40 months of age were evaluated.

Testicular steroidogenesis is suppressed during experimental autoimmune encephalomyelitis in rats.

Multiple sclerosis (MS) is an autoimmune disease that usually occurs during the reproductive years in both sexes. Many male patients with MS show lower blood testosterone levels, which was also observed in male rats during experimental autoimmune encephalomyelitis (EAE), an animal model of MS. To better understand the causes of decreased testosterone production during EAE, we investigated the expression status of genes and proteins associated with steroidogenesis in the testes.

Cosmetic Endocrinology.

Cosmetic endocrinology treats endocrine pathophysiologies to improve cosmetically bothersome physical exam findings for the patient. Here we review the general cosmetic changes in PCOS with an emphasis on targeted cosmetic medical therapies.

Eating in the Absence of Hunger Is Related to Worse Diet Quality throughout Pregnancy.

Background: Scant research has examined whether laboratory assessments of eating in the absence of hunger (EAH) relates to long-term diet quality.

Objective: This study investigates the association of EAH with diet quality during pregnancy.

Design: Pregnancy diet quality was assessed using 24-hour diet recalls collected in each pregnancy trimester.

Pregnant Women Consume a Similar Proportion of Highly vs Minimally Processed Foods in the Absence of Hunger, Leading to Large Differences in Energy Intake.

Background: The eating in the absence of hunger (EAH) experimental paradigm measures intake of highly palatable, highly processed foods when sated. However, no studies have examined EAH in pregnant women.

Objective: The objectives were to investigate whether EAH in pregnant women differs by level of food processing and to examine relationships of EAH with hedonic hunger, addictive-like eating, and impulsivity.

A Prospective Study of the Relationship of Sleep Quality and Duration with Gestational Weight Gain and Fat Gain.

Fewer than one-third of U.S. women meet the Institute of Medicine guidelines for healthy gestational weight gain (GWG).

Impact of Personal Protective Equipment on Pediatric Cardiopulmonary Resuscitation Performance: A Controlled Trial.

Objectives: This study aimed to determine whether personal protective equipment (PPE) results in deterioration in chest compression (CC) quality and greater fatigue for administering health care providers (HCPs).

Methods: In this multicenter study, HCPs completed 2 sessions. In session 1 (baseline), HCPs wore normal attire; in session 2, HCPs donned full PPE.

An update on stem cell therapy for Asherman syndrome.

The current treatment for Asherman syndrome is limited and not very effective. The aim of this review is to summarize the most recent evidence for stem cells in the treatment of Asherman syndrome. The advent of stem cell therapy has propagated experimentation on mice and humans as a novel treatment.

Impact of Personal Protective Equipment on the Performance of Emergency Pediatric Tasks.

Objectives: Personal protective equipment (PPE) is worn by health care providers (HCPs) to protect against hazardous exposures. Studies of HCPs performing critical resuscitation tasks in PPE have yielded mixed results and have not evaluated performance in care of children. We evaluated the impacts of PPE on timeliness or success of emergency procedures performed by pediatric HCPs.

Urinary Phytoestrogens and Relationship to Menstrual Cycle Length and Variability Among Healthy, Eumenorrheic Women.

Context: Phytoestrogens may influence fecundability, although biological mechanisms remain elusive. Since it is hypothesized that phytoestrogens may act through influencing hormone levels, we investigated associations between phytoestrogens and menstrual cycle length, a proxy for the hormonal milieu, in healthy women attempting pregnancy.

Design: A population-based prospective cohort of 326 women ages 18 to 40 with self-reported cycles of 21 to 42 days were followed until pregnancy or for 12 months of attempting pregnancy.

Creating 2D Occupancy Plots Using plot2DO.

Chromatin organization and epigenetic marks play a critical role in stem cell pluripotency and differentiation. Chromatin digestion by micrococcal nuclease (MNase) followed by high-throughput sequencing (MNase-seq) is the most widely used genome-wide method for studying nucleosome organization, that is, the first level of DNA packaging into chromatin. Combined with chromatin immunoprecipitation (ChIP), MNase-ChIP-seq represents a high-resolution method for investigating both chromatin organization and the distribution of epigenetic marks and histone variants.

A method for assessing histone surface accessibility genome-wide.

The assembly of DNA into nucleosomes and higher order chromatin structures serves not only as a means of compaction but also organizes the genome to facilitate crucial processes such as cell division and regulation of gene expression. Chromatin structure generally limits access to DNA, with the accessibility of DNA in chromatin being regulated through post translational modification of the histone proteins as well as the activity of chromatin remodeling proteins and architectural chromatin factors. There is great interest in assessing chromatin accessibility genome-wide to identify functional elements associated with enhancers, promoters, and other discontinuities in the compacted chromatin structure associated with gene expression.

Phase separation of YAP reorganizes genome topology for long-term YAP target gene expression.

Yes-associated protein (YAP) is a transcriptional co-activator that regulates cell proliferation and survival by binding to a select set of enhancers for target gene activation. How YAP coordinates these transcriptional responses is unknown. Here, we demonstrate that YAP forms liquid-like condensates in the nucleus.

Quantitative MNase-seq accurately maps nucleosome occupancy levels.

Micrococcal nuclease (MNase) is widely used to map nucleosomes. However, its aggressive endo-/exo-nuclease activities make MNase-seq unreliable for determining nucleosome occupancies, because cleavages within linker regions produce oligo- and mono-nucleosomes, whereas cleavages within nucleosomes destroy them. Here, we introduce a theoretical framework for predicting nucleosome occupancies and an experimental protocol with appropriate spike-in normalization that confirms our theory and provides accurate occupancy levels over an MNase digestion time course.

Accessibility of promoter DNA is not the primary determinant of chromatin-mediated gene regulation.

DNA accessibility is thought to be of major importance in regulating gene expression. We test this hypothesis using a restriction enzyme as a probe of chromatin structure and as a proxy for transcription factors. We measured the digestion rate and the fraction of accessible DNA at almost all genomic AluI sites in budding yeast and mouse liver nuclei.

Remembrances of parental rejection are associated with loneliness as mediated by psychological maladjustment in young Bangladeshi men but not women.

Loneliness is a significant public health issue that affects young adults. This investigation drew from interpersonal acceptance-rejection theory to understand how remembrances of parental rejection contributed to psychological maladjustment and loneliness in Bangladeshi college students (N = 300; 50% female). Students reported their remembrances of mothers' and fathers' acceptance-rejection, their current psychological maladjustment, and loneliness.

Establishing Dosing Recommendations for Efavirenz in HIV/TB-Coinfected Children Younger Than 3 Years.

Background: CYP2B6 516 genotype-directed dosing improves efavirenz (EFV) exposures in HIV-infected children younger than 36 months, but such data are lacking in those with tuberculosis (TB) coinfection.

Methods: Phase I, 24-week safety and pharmacokinetic (PK) study of EFV in HIV-infected children aged 3 to <36 months, with or without TB. CYP2B6 516 genotype classified children into extensive metabolizers (516 TT/GT) and poor metabolizers [(PMs), 516 TT].