Artificial intelligence and the future of life sciences.

Over the past few decades, the number of health and 'omics-related data' generated and stored has grown exponentially. Patient information can be collected in real time and explored using various artificial intelligence (AI) tools in clinical trials; mobile devices can also be used to improve aspects of both the diagnosis and treatment of diseases. In addition, AI can be used in the development of new drugs or for drug repurposing, in faster diagnosis and more efficient treatment for various diseases, as well as to identify data-driven hypotheses for scientists.

Skin disease is more recalcitrant than muscle disease: A long-term prospective study of 184 children with juvenile dermatomyositis.

Background: Persistent skin manifestations, especially calcinoses, contribute to morbidity in children with juvenile dermatomyositis.

Objective: To compare the course of skin and muscle involvement and document frequency of calcinosis in juvenile dermatomyositis.

Methods: Prospective cohort study of 184 untreated children with juvenile dermatomyositis (July 1971 to May 2019) at a single children's hospital.

Effect of allogeneic mesenchymal stem cells (MSCs) on corneal wound healing in dogs.

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Robust stratification of breast cancer subtypes using differential patterns of transcript isoform expression.

Breast cancer, the second leading cause of cancer death of women worldwide, is a heterogenous disease with multiple different subtypes. These subtypes carry important implications for prognosis and therapy. Interestingly, it is known that these different subtypes not only have different biological behaviors, but also have distinct gene expression profiles.

Folate receptor alpha is more than just a folate transporter.

Until recently folate receptor alpha (FRα) has only been considered as a folate transporter. However, a novel role of FRα as a transcription factor was reported by our lab. More recently our lab showed a novel pleiotropic role of FRα: (a) direct transcriptional activation of , and genes; and (b) repression of biogenesis of miRNAs that target these genes or their effector molecules.

Expression of miR-18a and miR-210 in Normal Breast Tissue as Candidate Biomarkers of Breast Cancer Risk.

miRNAs are noncoding RNAs with abnormal expression in breast cancer; their expression in high-risk benign breast tissue may relate to breast cancer risk. We examined miRNA profiles in contralateral unaffected breasts (CUB) of patients with breast cancer and validated resulting candidates in two additional sample sets. Expression profiles of 754 mature miRNAs were examined using TaqMan Low Density Arrays in 30 breast cancer samples [15 estrogen receptor (ER)-positive and 15 ER-negative] and paired CUBs and 15 reduction mammoplasty controls.

The Use of Ultrasound Guidance for Perioperative Neuraxial and Peripheral Nerve Blocks in Children: A Cochrane Review.

Background: Objectives were to determine whether the use of ultrasound guidance offers any clinical advantage in the performance of neuraxial or peripheral nerve blocks in children in terms of increasing the success rate or decreasing the rate of complications.

Methods: We searched the following databases to March 2015: Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE (OvidSP), EMBASE (OvidSP), and Scopus (to January 2015). We included all parallel randomized controlled trials that evaluated the effect of ultrasound guidance to perform a regional blockade technique in children.

Absence of UCHL 1 function leads to selective motor neuropathy.

Objective: The aim of this study was to investigate the role of ubiquitin C-terminal hydrolase-L1 (UCHL1) for motor neuron circuitry and especially in spinal motor neuron (SMN) health, function, and connectivity.

Methods: Since mutations in UCHL1 gene leads to motor dysfunction in patients, we investigated the role of UCHL1 on SMN survival, axon health, and connectivity with the muscle, by employing molecular and cellular marker expression analysis and electrophysiological recordings, in healthy wild-type and Uchl1 (nm3419) (UCHL1-/-) mice, which lack all UCHL1 function.

Results: There is pure motor neuropathy with selective degeneration of the motor, but not sensory axons in the absence of UCHL1 function.

Healthy and diseased corticospinal motor neurons are selectively transduced upon direct AAV2-2 injection into the motor cortex.

Direct gene delivery to the neurons of interest, without affecting other neuron populations in the cerebral cortex, represent a challenge owing to the heterogeneity and cellular complexity of the brain. Genetic modulation of corticospinal motor neurons (CSMN) is required for developing effective and long-term treatment strategies for motor neuron diseases, in which voluntary movement is impaired. Adeno-associated viruses (AAV) have been widely used for neuronal transduction studies owing to long-term and stable gene expression as well as low immunoreactivity in humans.

Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family.

Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect affecting 135,000 newborns worldwide each year. While a multifactorial etiology has been suggested as the cause, despite decades of research, the genetic underpinnings of NSCLP remain largely unexplained. In our previous genome-wide linkage study of a large NSCLP African-American family, we identified a candidate locus at 8q21.

Epigenomes as therapeutic targets.

Epigenetics is a molecular phenomenon that pertains to heritable changes in gene expression that do not involve changes in the DNA sequence. Epigenetic modifications in a whole genome, known as the epigenome, play an essential role in the regulation of gene expression in both normal development and disease. Traditional epigenetic changes include DNA methylation and histone modifications.

Improved vitamin D supplementation in hospitalized breastfed infants through electronic order modification and targeted provider education.

Objective: To examine effectiveness of an intervention promoting vitamin D supplementation in hospitalized breastfed infants.

Methods: Our urban tertiary care hospital instituted a 2-part intervention: brief education for providers on vitamin D guidelines and insertion of an opt-in order for vitamin D supplements into electronic admission order sets. Data downloads on admissions of patients aged <1 year were obtained.

Body mass index and waist circumference rather than body adiposity index are better surrogates for body adiposity in a Chinese population.

Background: Several studies have found that body adiposity index (BAI) is a better index of body adiposity than body mass index (BMI) in African and Mexican American adults. This study aims to evaluate the ability of BAI to predict body adiposity in Chinese children and adults.

Materials And Methods: In total, 2425 children and 5726 adults were recruited from rural China.

Corticospinal Motor Neurons Are Susceptible to Increased ER Stress and Display Profound Degeneration in the Absence of UCHL1 Function.

Corticospinal motor neurons (CSMN) receive, integrate, and relay cerebral cortex's input toward spinal targets to initiate and modulate voluntary movement. CSMN degeneration is central for numerous motor neuron disorders and neurodegenerative diseases. Previously, 5 patients with mutations in the ubiquitin carboxy-terminal hydrolase-L1 (UCHL1) gene were reported to have neurodegeneration and motor neuron dysfunction with upper motor neuron involvement.

Nodal signaling promotes a tumorigenic phenotype in human breast cancer.

The Ras-ERK pathway is deregulated in approximately a third of human cancers, particularly those of epithelial origin. In aggressive, triple-negative, basal-like breast cancers, most tumors display increased MEK and ERK phosphorylation and exhibit a gene expression profile characteristic of Kras or EGFR mutant tumors; however, Ras family genetic mutations are uncommon in triple-negative breast cancer and EGFR mutations account for only a subset of these tumors. Therefore, the upstream events that activate MAPK signaling and promote tumor aggression in triple-negative breast cancers remain poorly defined.

Early Life Origins of Metabolic Syndrome: The Role of Environmental Toxicants.

Metabolic syndrome (MetS) affects more than 47 million people in the U.S. Even more alarming, MetS, once regarded as an "adult problem", has become increasingly common in children.

Melanoma tumor cell heterogeneity: a molecular approach to study subpopulations expressing the embryonic morphogen nodal.

As the frequency of melanoma increases, current treatment strategies are struggling to significantly impact patient survival. One of the critical issues in designing efficient therapies is understanding the composition of heterogeneous melanoma tumors in order to target cancer stem cells (CSCs) and drug-resistant subpopulations. In this review, we summarize recent findings pertinent to the reemergence of the embryonic Nodal signaling pathway in melanoma and its significance as a prognostic biomarker and therapeutic target.

Placental transfer and concentrations of cadmium, mercury, lead, and selenium in mothers, newborns, and young children.

There is an emerging hypothesis that exposure to cadmium (Cd), mercury (Hg), lead (Pb), and selenium (Se) in utero and early childhood could have long-term health consequences. However, there are sparse data on early life exposures to these elements in US populations, particularly in urban minority samples. This study measured levels of Cd, Hg, Pb, and Se in 50 paired maternal, umbilical cord, and postnatal blood samples from the Boston Birth Cohort (BBC).

MIR146A inhibits JMJD3 expression and osteogenic differentiation in human mesenchymal stem cells.

Chromatin remodeling is important for cell differentiation. Histone methyltransferase EZH2 and histone demethylase JMJD3 (KDM6B) modulate levels of histone H3 lysine 27 trimethylation (H3K27me3). Interplay between the two modulators influence lineage specification in stem cells.

Biphasic role of chondroitin sulfate in cardiac differentiation of embryonic stem cells through inhibition of Wnt/β-catenin signaling.

The glycosaminoglycan chondroitin sulfate is a critical component of proteoglycans on the cell surface and in the extracellular matrix. As such, chondroitin sulfate side chains and the sulfation balance of chondroitin play important roles in the control of signaling pathways, and have a functional importance in human disease. In contrast, very little is known about the roles of chondroitin sulfate molecules and sulfation patterns during mammalian development and cell lineage specification.

Metabolic alterations in children with obstructive sleep apnea.

Importance: The incidence of obesity is rising in the United States and has been linked to Obstructive Sleep Apnea (OSA) even in young children. Understanding the role that obesity and OSA play in alterations in metabolic variables that can lead to serious health issues is essential to the care and counseling of affected children.

Objectives: To evaluate the association of alterations in metabolic variables, including insulin resistance, to OSA in young, obese children.

Nutrient content of school meals before and after implementation of nutrition recommendations in five school districts across two U.S. counties.

Objective: To compare changes in nutrient levels of school meals before and after implementation of nutrition interventions at five school districts in two, large U.S. counties.