A Ducted, Biomimetic Nipple Improves Aspects of Infant Feeding Physiology and Performance in an Animal Model.

Breastfeeding is widely regarded as the optimal form of feeding infants, as it provides both nutritional and physiological benefits. For example, breastfed infants generate greater intraoral suction and have higher amplitude muscle activities compared to bottle-fed infants, with downstream implications for motor function, development, and health. One mechanism that might explain these physiological differences is the structure of the nipple an infant is feeding on.

Resolution of variable expressivity in a multi-generational family using deep clinical phenotyping and models.

Purpose: Variants in result in a rare neurodevelopmental disorder characterized by a variable clinical presentation of symptoms including developmental delay, epilepsy, motor dysfunction, and autism spectrum disorder. haploinsufficiency has been confirmed as the predominant pathway of related neurodevelopmental disorders (NDDs), however, the molecular mechanism underlying the variable clinical presentation remains unclear.

Methods: Here, through work of the Undiagnosed Diseases Network, we identify an undiagnosed individual with an inherited p.

Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha.

We report a 40-year-old African American female with a novel variant in exon 8 of DNA methyltransferase 3 alpha (DNMT3A), (NM_022552.4: c.905G>C, p.

Single-nucleus chromatin accessibility and transcriptomic map of breast tissues of women of diverse genetic ancestry.

Single-nucleus analysis allows robust cell-type classification and helps to establish relationships between chromatin accessibility and cell-type-specific gene expression. Here, using samples from 92 women of several genetic ancestries, we developed a comprehensive chromatin accessibility and gene expression atlas of the breast tissue. Integrated analysis revealed ten distinct cell types, including three major epithelial subtypes (luminal hormone sensing, luminal adaptive secretory precursor (LASP) and basal-myoepithelial), two endothelial and adipocyte subtypes, fibroblasts, T cells, and macrophages.

The effects of simulated gastroesophageal reflux on infant pig oropharyngeal feeding physiology.

The neural connectivity among the oral cavity, pharynx, and esophagus is a critical component of infant feeding physiology. Central integration of oral and pharyngeal afferents alters motor outputs to structures that power swallowing, but the potential effects of esophageal afferents on preesophageal feeding physiology are unclear. These effects may explain the prevalence of oropharyngeal dysphagia in infants suffering from gastroesophageal reflux (GER), though the mechanism underlying this relationship remains unknown.

Improving access to exome sequencing in a medically underserved population through the Texome Project.

Purpose: Genomic medicine can end diagnostic odysseys for patients with complex phenotypes; however, limitations in insurance coverage and other systemic barriers preclude individuals from accessing comprehensive genetics evaluation and testing.

Methods: The Texome Project is a 4-year study that reduces barriers to genomic testing for individuals from underserved and underrepresented populations. Participants with undiagnosed, rare diseases who have financial barriers to obtaining exome sequencing (ES) clinically are enrolled in the Texome Project.

Global distribution of Leptospira serovar isolations and detections from animal host species: A systematic review and online database.

Objectives: Leptospira, the spirochaete causing leptospirosis, can be classified into >250 antigenically distinct serovars. Although knowledge of the animal host species and geographic distribution of Leptospira serovars is critical to understand the human and animal epidemiology of leptospirosis, current data are fragmented. We aimed to systematically review, the literature on animal host species and geographic distribution of Leptospira serovars to examine associations between serovars with animal host species and regions and to identify geographic regions in need of study.

Can peripheral psychophysiological markers predict response to exposure-based cognitive behavioral therapy in youth with severely impairing irritability? A study protocol.

Background: Irritability, an increased proneness to anger, is a primary reason youth present for psychiatric care. While initial evidence supports the efficacy of exposure-based cognitive behavioral therapy (CBT) for youth with clinically impairing irritability, treatment mechanisms remain unclear. Here, we propose to measure peripheral psychophysiological indicators of arousal-heart rate (HR)/electrodermal activity (EDA)-and regulation-heart rate variability (HRV)-during exposures to anger-inducing stimuli as potential predictors of treatment efficacy.

Biofilm-derived oxylipin 10-HOME-mediated immune response in women with breast implants.

This study investigates a mechanistic link of bacterial biofilm-mediated host-pathogen interaction leading to immunological complications associated with breast implant illness (BII). Over 10 million women worldwide have breast implants. In recent years, women have described a constellation of immunological symptoms believed to be related to their breast implants.

The Impact of Varying Nipple Properties on Infant Feeding Physiology and Performance Throughout Ontogeny in a Validated Animal Model.

Infant feeding requires successful interactions between infant physiology and the maternal (or bottle) nipple. Within artificial nipples, there is variation in both nipple stiffness and flow rates, as well as variation in infant physiology as they grow and mature. However, we have little understanding into how infants interact with variable nipple properties to generate suction and successfully feed.

Global distribution of serovar isolations and detections from animal host species: a systematic review and online database.

Objectives: , the spirochaete causing leptospirosis, can be classified into >250 antigenically distinct serovars. Although knowledge of the animal host species and geographic distribution of serovars is critical to understand the human and animal epidemiology of leptospirosis, currently data are fragmented. We aimed to systematically review the literature on animal host species and geographic distribution of serovars to examine associations between serovars with animal host species and regions, and to identify geographic regions in need of study.

An Exposure-Based Cognitive-Behavioral Therapy for Youth with Severe Irritability: Feasibility and Preliminary Efficacy.

Objective: Clinically impairing irritability and temper outbursts are among the most common psychiatric problems in youth and present transdiagnostically; however, few mechanistically informed treatments have been developed. Here, we test the acceptability, feasibility, and preliminary efficacy of a novel exposure-based treatment with integrated parent management skills for youth with severe irritability using a randomized between-subjects multiple baseline design.

Method:  = 41 patients (Age, Mean (SD) = 11.

Evolution, diversification and function of the maternal-infant dyad in mammalian feeding.

The evolution of the mother/infant dyad providing a source of nutrition for infants is essential for the origin and subsequent diversification of mammals. Despite the importance of this dyad, research on maternal and infant function is often treated independently. Our goal is to synthesize the work on maternal and infant function, discuss our own studies of suckling, and compare the origins of lactation and suckling with their ensuing diversification.

Exploring the interaction of viscosity and nipple design on feeding performance in an infant pig model.

Infant feeding behaviors are modulated via sensorimotor feedback, such that sensory perturbations can significantly impact performance. Properties of the nipple and milk (e.g.

Impact of volume and rate of milk delivery on coordination of respiration and swallowing in infant pigs.

The coordination of respiration and swallowing is a life-critical function in infants. Varying volume and rate of milk delivery changes swallowing frequency and bolus volume but any impact on swallow-respiration coordination is unknown. Five infant pigs were filmed with simultaneous high speed videofluoroscopy and plethysmography while feeding from an automatic system delivering milk across a range of volumes and frequencies.

Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population.

Background: Genomic medicine is revolutionizing the diagnosis of rare diseases, but the implementation has not benefited underrepresented populations to the same degree. Here, we report the case of a 7-year-old boy with hypotonia, global developmental delay, strabismus, seizures, and previously suspected mitochondrial myopathy. This proband comes from an underrepresented minority and was denied exome sequencing by his public insurance.

Nipple properties affect sensorimotor integration during bottle feeding in an infant pig model.

Infant feeding is a critical neurological milestone in development defined by the coordination of muscles, peripheral nerves, and brainstem nuclei. In infants, milk flow rate is often limited to improve feeding performance without treating the underlying deficiencies in the sucking and swallowing processes. Modification of the neuromotor response via sensory information from the nipple during bottle feeding is an unexplored avenue for physiology-based interventions.

Exploring breast tissue microbial composition and the association with breast cancer risk factors.

Background: Microbial dysbiosis has emerged as an important element in the development and progression of various cancers, including breast cancer. However, the microbial composition of the breast from healthy individuals, even relative to risk of developing breast cancer, remains unclear. Here, we performed a comprehensive analysis of the microbiota of the normal breast tissue, which was analyzed in relation to the microbial composition of the tumor and adjacent normal tissue.

Sequential apoptotic and multiplexed proteomic evaluation of single cancer cells.

A potential cause of cancer relapse is pretreatment chemoresistant subpopulations. Identifying targetable features of subpopulations that are poorly primed for therapy-induced cell death may improve cancer therapy. Here, we develop and validate real-time BH3 profiling, a live and functional single-cell measurement of pretreatment apoptotic sensitivity that occurs upstream of apoptotic protease activation.

The Function of the Mammal Extrinsic Tongue Musculature in the Transition from Suckling to Drinking.

The transition from suckling to drinking is a developmental pathway that all mammals take. In both behaviors, the tongue is the primary structure involved in acquiring, transporting, and swallowing the liquid. However, the two processes are fundamentally different: during suckling, the tongue must function as a pump to generate suction to move milk, whereas during drinking, the tongue moves backwards and forwards through the mouth to acquire and move water.

Evaluating The Precocial-altricial Axis of Motor Skill at Birth in A Preterm Pig Model.

The pace of locomotor development is a critical component of lifetime evolutionary fitness. Developmental researchers often divide species into two broad categories based on functional competence at birth: precocial infants who can independently stand and locomote soon after birth versus altricial infants who are either incapable of independent movement or can only do so in a rudimentary manner. However, investigating the lower level neuromotor and biomechanical traits that account for perinatal variation in motor development is complicated by the lack of experimental control inherent to all comparative analyses.

Developmental factors influencing bone strength in precocial mammals: An infant pig model.

Most vertebrates are precocial in locomotion, able to walk and run soon after birth. Precociality requires a bony skeleton of sufficient strength to resist mechanical loading during early locomotor efforts. The aim of this study was to use an animal model-the preterm infant pig-to investigate some of the proximate factors that might determine variation in bone strength in precocial animals.

Regional Variation in Contractile Patterns and Muscle Activity in Infant Pig Feeding.

At the level of the whole muscle, contractile patterns during activity are a critical and necessary source of variation in function. Understanding if a muscle is actively lengthening, shorting, or remaining isometric has implications for how it is working to power a given behavior. When feeding, the muscles associated with the tongue, jaws, pharynx, and hyoid act together to transport food through the oral cavity and into the esophagus.