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Health Tip: Buy the Right Backpack for Your Child

Title: Health Tip: Buy the Right Backpack for Your Child
Category: Health News
Created: 8/29/2018 12:00:00 AM
Last Editorial Review: 8/29/2018 12:00:00 AM




chi

Salmonella Outbreak in 4 States Linked to Kosher Chicken: CDC

Title: Salmonella Outbreak in 4 States Linked to Kosher Chicken: CDC
Category: Health News
Created: 8/30/2018 12:00:00 AM
Last Editorial Review: 8/30/2018 12:00:00 AM




chi

Pediatricians Make Change to Child Car Seat Guidelines

Title: Pediatricians Make Change to Child Car Seat Guidelines
Category: Health News
Created: 8/30/2018 12:00:00 AM
Last Editorial Review: 8/30/2018 12:00:00 AM




chi

Drug for Spinal Muscular Atrophy May Help Older Children: Study

Title: Drug for Spinal Muscular Atrophy May Help Older Children: Study
Category: Health News
Created: 8/29/2018 12:00:00 AM
Last Editorial Review: 8/30/2018 12:00:00 AM




chi

Pfizer Recalls a Type of Children's Advil

Title: Pfizer Recalls a Type of Children's Advil
Category: Health News
Created: 8/29/2018 12:00:00 AM
Last Editorial Review: 8/30/2018 12:00:00 AM




chi

China Withholding H7N9 Bird Flu Virus Samples From U.S.

Title: China Withholding H7N9 Bird Flu Virus Samples From U.S.
Category: Health News
Created: 8/31/2018 12:00:00 AM
Last Editorial Review: 8/31/2018 12:00:00 AM




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Health Tip: Keep Your Epileptic Child Safer

Title: Health Tip: Keep Your Epileptic Child Safer
Category: Health News
Created: 8/31/2018 12:00:00 AM
Last Editorial Review: 8/31/2018 12:00:00 AM




chi

Childhood Cancer Survivors Struggle With Heart Troubles

Title: Childhood Cancer Survivors Struggle With Heart Troubles
Category: Health News
Created: 8/26/2019 12:00:00 AM
Last Editorial Review: 8/27/2019 12:00:00 AM




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AHA News: Understanding Connection Between Poverty, Childhood Trauma and Heart Disease

Title: AHA News: Understanding Connection Between Poverty, Childhood Trauma and Heart Disease
Category: Health News
Created: 8/27/2019 12:00:00 AM
Last Editorial Review: 8/28/2019 12:00:00 AM




chi

Is a Charter School the Right Choice for Your Child?

Title: Is a Charter School the Right Choice for Your Child?
Category: Health News
Created: 8/29/2019 12:00:00 AM
Last Editorial Review: 8/29/2019 12:00:00 AM




chi

Don't Count on Vitamin D to Ease Childhood Asthma

Title: Don't Count on Vitamin D to Ease Childhood Asthma
Category: Health News
Created: 8/25/2020 12:00:00 AM
Last Editorial Review: 8/26/2020 12:00:00 AM




chi

Pandemic Learning Can Strain Children's Eyes

Title: Pandemic Learning Can Strain Children's Eyes
Category: Health News
Created: 8/27/2020 12:00:00 AM
Last Editorial Review: 8/28/2020 12:00:00 AM




chi

FDA Warns Against 'Off-Label' Use of Pfizer Vaccine in Younger Children

Title: FDA Warns Against 'Off-Label' Use of Pfizer Vaccine in Younger Children
Category: Health News
Created: 8/24/2021 12:00:00 AM
Last Editorial Review: 8/24/2021 12:00:00 AM




chi

Toppling TVs, Furniture Sending Many Young Children to ERs

Title: Toppling TVs, Furniture Sending Many Young Children to ERs
Category: Health News
Created: 8/27/2021 12:00:00 AM
Last Editorial Review: 8/27/2021 12:00:00 AM




chi

Tips to Food-Fueling Your Active Vegan Child

Title: Tips to Food-Fueling Your Active Vegan Child
Category: Health News
Created: 8/20/2022 12:00:00 AM
Last Editorial Review: 8/22/2022 12:00:00 AM




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Michigan Officials Puzzled by Mysterious Deaths of 30 Dogs

Title: Michigan Officials Puzzled by Mysterious Deaths of 30 Dogs
Category: Health News
Created: 8/24/2022 12:00:00 AM
Last Editorial Review: 8/24/2022 12:00:00 AM




chi

Breakfast Might Be Good for a Child's Emotional Health, Too

Title: Breakfast Might Be Good for a Child's Emotional Health, Too
Category: Health News
Created: 8/24/2022 12:00:00 AM
Last Editorial Review: 8/24/2022 12:00:00 AM




chi

Too Few Psychiatric Beds: Psychiatrists' Group Takes Aim at Ongoing Crisis

Title: Too Few Psychiatric Beds: Psychiatrists' Group Takes Aim at Ongoing Crisis
Category: Health News
Created: 8/17/2022 12:00:00 AM
Last Editorial Review: 8/18/2022 12:00:00 AM




chi

Brain-Eating Amoeba From River May Have Caused Child's Death

Title: Brain-Eating Amoeba From River May Have Caused Child's Death
Category: Health News
Created: 8/19/2022 12:00:00 AM
Last Editorial Review: 8/19/2022 12:00:00 AM




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CDC Investigating E. coli Outbreak in Ohio, Michigan

Title: CDC Investigating E. coli Outbreak in Ohio, Michigan
Category: Health News
Created: 8/18/2022 12:00:00 AM
Last Editorial Review: 8/19/2022 12:00:00 AM




chi

Vaginal or C-Section, Method of Childbirth Won't Affect a Couple's Sex Life Later

Title: Vaginal or C-Section, Method of Childbirth Won't Affect a Couple's Sex Life Later
Category: Health News
Created: 8/24/2022 12:00:00 AM
Last Editorial Review: 8/25/2022 12:00:00 AM




chi

GERD (Acid Reflux) in Infants and Children

Title: GERD (Acid Reflux) in Infants and Children
Category: Diseases and Conditions
Created: 1/31/2005 12:00:00 AM
Last Editorial Review: 8/18/2022 12:00:00 AM




chi

Organ From Live Donor Best When Child Needs New Kidney

Title: Organ From Live Donor Best When Child Needs New Kidney
Category: Health News
Created: 8/17/2022 12:00:00 AM
Last Editorial Review: 8/18/2022 12:00:00 AM




chi

How Childhood Abuse Can Haunt the Senior Years

Title: How Childhood Abuse Can Haunt the Senior Years
Category: Health News
Created: 7/8/2022 12:00:00 AM
Last Editorial Review: 7/8/2022 12:00:00 AM




chi

Impaired lung function and associated risk factors in children born prematurely: a systematic review and meta-analysis

Background

Immature lung development and respiratory morbidity place preterm-born children at high risk of long-term pulmonary sequelae. This systematic review and meta-analysis aims to quantify lung function in preterm-born children and identify risk factors for a compromised lung function.

Methods

We searched MEDLINE, Embase, Cochrane Library, Web of Science and Scopus for relevant studies published on preterm cohorts born since 1990. Studies comparing forced expiratory volume in 1 s (FEV1) in preterm-born children aged ≥5 years to term-born controls or normative data were included. Study quality was assessed using the Newcastle–Ottawa Scale for cohort studies. Standardised mean differences in FEV1 and secondary spirometry outcomes per study were pooled using meta-analysis. The impact of different demographic and neonatal variables on studies’ FEV1 effect sizes was investigated by meta-regression analyses. Certainty of evidence was assessed using the Grading of Recommendations, Assessment, Development, and Evaluations framework.

Results

We identified 42 studies with unique cohorts including 4743 preterm children and 9843 controls. Median gestational age in the studies was 28.0 weeks and age at assessment ranged from 6.7 to 16.7 years. Preterm children had lower FEV1 than controls (–0.58 sd, 95% CI –0.69– –0.47 sd, p<0.001) resulting in a relative risk of 2.9 (95% CI 2.4–3.4) for abnormal outcome, with high certainty of evidence. FEV1 was significantly associated with gestational age, birthweight, bronchopulmonary dysplasia and invasive mechanical ventilation in univariate meta-regression analyses (R2=36–96%).

Conclusion

This systematic review shows robust evidence of impaired lung function in preterm-born children with a high certainty of evidence.




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Antibody-mediated protection against respiratory syncytial virus in children

Respiratory syncytial virus (RSV) is a major global pathogen, causing lower respiratory tract disease in at-risk populations including young children. Antibodies form a crucial layer of protection from RSV disease, particularly in immunologically naïve infants. Such antibodies are derived from the mother via transplacental transfer and breast milk, but may be particularly low in high-risk infants such as those born preterm. Maternally derived antibodies can now be supplemented by the administration of anti-RSV monoclonal antibodies, while a rising wave of maternal and paediatric vaccine strategies are approaching. The implementation of these prophylactics may profoundly decrease the healthcare burden of RSV. In this article, we review the role of antibody-mediated immunity in protecting children from RSV. We focus on maternally derived antibodies as the main source of protection against RSV and study factors that influence the scale of this transfer. The role of passive and active prophylactic approaches in protecting infants against RSV are discussed and knowledge gaps in our understanding of antibody-mediated protection against RSV are identified.




chi

Epidemiology of severe asthma in children: a systematic review and meta-analysis

Background

Severe asthma significantly impacts a minority of children with asthma, leading to frequent symptoms, hospitalisations and potential long-term health consequences. However, accurate global data on severe asthma epidemiology is lacking. This study aims to address this gap, providing data on severe asthma epidemiology, regional differences and associated comorbidities.

Methods

We conducted a rigorous systematic review and meta-analysis following a registered protocol (PROSPERO CRD42023472845). We searched PubMed, Scopus and Web of Science for cohort or cross-sectional studies published since 2003, evaluating severe asthma incidence and prevalence in children. Study quality and risk of bias were assessed using STROBE guidelines.

Results

Nine studies investigating European children with asthma (aged 5–18 years) were included in the meta-analysis. No significant publication bias was found. The overall severe asthma prevalence in children with asthma was 3% (95% CI 1–6; I2=99.9%; p<0.001), with no significant difference between males and females. Prevalence estimates varied significantly depending on the diagnostic criteria used (Global Initiative for Asthma: 6%; European Respiratory Society/American Thoracic Society: 1%; other: 3%). Because none of the examined studies were prospectively designed, incidence rates could not be determined.

Conclusions

This systematic review and meta-analysis provide the first robust assessment of severe asthma prevalence among European children. Our findings underscore the need for comprehensive research to address knowledge gaps in severe asthma, including determining incidence rates, standardising definitions, investigating regional differences and evaluating comorbidities and treatment strategies.




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Epidemiology of bronchiectasis

Bronchiectasis is a chronic respiratory disease characterised by permanent enlargement of the airways associated with cough, sputum production and a history of pulmonary exacerbations. In the past few years, incidence and prevalence of bronchiectasis have increased worldwide, possibly due to advances in imaging techniques and disease awareness, leading to increased socioeconomic burden and healthcare costs. Consistently, a mortality increase in bronchiectasis patient cohorts has been demonstrated in certain areas of the globe, with mortality rates of 16–24.8% over 4–5 years of follow-up. However, heterogeneity in epidemiological data is consistent, as reported prevalence in the general population ranges from 52.3 to more than 1000 per 100 000. Methodological flaws in the designs of available studies are likely to underestimate the proportion of people suffering from this condition worldwide and comparisons between different areas of the globe might be unreliable due to different assessment methods or local implementation of the same method in different contexts. Differences in disease severity associated with diverse geographical distribution of aetiologies, comorbidities and microbiology might explain an additional quota of heterogeneity. Finally, limited access to care in certain geographical areas is associated with both underestimation of the disease and increased severity and mortality. The aim of this review is to provide a snapshot of available real-world epidemiological data describing incidence and prevalence of bronchiectasis in the general population. Furthermore, data on mortality, healthcare burden and high-risk populations are provided. Finally, an analysis of the geographical distribution of determinants contributing to differences in bronchiectasis epidemiology is offered.




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Patient-managed interventions for adults with bronchiectasis: evidence, challenges and prospects

Bronchiectasis is a chronic lung condition which is characterised by recurrent chest infections, chronic sputum production and cough, and limited exercise tolerance. While bronchiectasis may be caused by various aetiologies, these features are shared by most patients with bronchiectasis regardless of the cause. This review consolidates the existing evidence on patient-managed interventions for adults with bronchiectasis, while also outlining areas for future research. Airway clearance techniques and hyperosmolar agents are key components of the bronchiectasis management and consistently recommended for clinical implementation. Questions around their prescription, such as optimal sequence of delivery, are still to be answered. Pulmonary rehabilitation and exercise are also recommended for patients with bronchiectasis. Relatively strong evidence underpins this recommendation during a clinically stable stage of the disease, although the role of pulmonary rehabilitation following an exacerbation is still unclear. Additionally, self-management programmes feature prominently in bronchiectasis treatment, yet the lack of consensus regarding their definition and outcomes presents hurdles to establishing a cohesive evidence base. Moreover, cough, a cardinal symptom of bronchiectasis, warrants closer examination. Although managing cough in bronchiectasis may initially appear risky, further research is necessary to ascertain whether strategies employed in other respiratory conditions can be safely and effectively adapted to bronchiectasis, particularly through identifying patient responder populations and criteria where cough may not enhance airway clearance efficacy and its control is needed. Overall, there is a growing recognition of the importance of patient-managed interventions in the bronchiectasis management. Efforts to improve research methodologies and increase research funding are needed to further advance our understanding of these interventions, and their role in optimising patient care and outcomes.




chi

Prevalence of Dental Caries and Utilization of Dental Services among WIC-participating Children: A scoping review

Purpose Low-income children experience disproportionately high rates of dental caries and challenges in accessing dental care compared to their higher-income peers. The purpose of this scoping review was to examine the prevalence of dental caries and dental service utilization among Special Supplemental Nutrition Program for Women, Infants, and Children (WIC) enrolled children.Methods The literature search and review were conducted between September 2023 and February 2024. The review followed the PRISMA-ScR reporting guidelines and included three databases: PubMed, CINAHL, and Dentistry & Oral Sciences Source. The study focused on children aged one to five participating in WIC within the United States (US) and aimed to determine the prevalence of dental service utilization and dental caries in the targeted population.Results This review includes twelve articles that are quantitative observational studies conducted from February 2001 to February 2023. Most of the studies were conducted in WIC programs in the Southern and Midwest regions of the US. Dental caries rates decreased by 61.8% from 2004 to 2016, with the highest prevalence in 2004, and the lowest prevalence in 2016. Dental service utilization among WIC children increased by 56.9% from 1992 to 2020.Conclusion There has been an increase in dental service utilization among WIC-enrolled children, with an overall decrease in dental caries over the last two decades. However, the prevalence of dental caries remains disproportionately high for children enrolled in WIC when compared to non-participants. To develop effective dental interventions for children enrolled in WIC, it is fundamental to identify the unique determinants of dental caries in this population.




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A Review of Artificial Intelligence and Machine Learning in Product Life Cycle Management

The pursuit of harnessing data for knowledge creation has been an enduring quest, with the advent of machine learning (ML) and artificial intelligence (AI) marking significant milestones in this journey. ML, a subset of AI, emerged as the practice of employing mathematical models to enable computers to learn and improve autonomously based on their experiences. In the pharmaceutical and biopharmaceutical sectors, a significant portion of manufacturing data remains untapped or insufficient for practical use. Recognizing the potential advantages of leveraging the available data for process design and optimization, manufacturers face the daunting challenge of data utilization. Diverse proprietary data formats and parallel data generation systems compound the complexity. The transition to Pharma 4.0 necessitates a paradigm shift in data capture, storage, and accessibility for manufacturing and process operations. This paper highlights the pivotal role of AI in converting process data into actionable knowledge to support critical functions throughout the whole product life cycle. Furthermore, it underscores the importance of maintaining compliance with data integrity guidelines, as mandated by regulatory bodies globally. Embracing AI-driven transformations is a crucial step toward shaping the future of the pharmaceutical industry, ensuring its competitiveness and resilience in an evolving landscape.




chi

Decoding biology with massively parallel reporter assays and machine learning [Reviews]

Massively parallel reporter assays (MPRAs) are powerful tools for quantifying the impacts of sequence variation on gene expression. Reading out molecular phenotypes with sequencing enables interrogating the impact of sequence variation beyond genome scale. Machine learning models integrate and codify information learned from MPRAs and enable generalization by predicting sequences outside the training data set. Models can provide a quantitative understanding of cis-regulatory codes controlling gene expression, enable variant stratification, and guide the design of synthetic regulatory elements for applications from synthetic biology to mRNA and gene therapy. This review focuses on cis-regulatory MPRAs, particularly those that interrogate cotranscriptional and post-transcriptional processes: alternative splicing, cleavage and polyadenylation, translation, and mRNA decay.




chi

Characterization and implementation of the MarathonRT template-switching reaction to expand the capabilities of RNA-seq [ARTICLE]

End-to-end RNA-sequencing methods that capture 5'-sequence content without cumbersome library manipulations are of great interest, particularly for analysis of long RNAs. While template-switching methods have been developed for RNA sequencing by distributive short-read RTs, such as the MMLV RTs used in SMART-Seq methods, they have not been adapted to leverage the power of ultraprocessive RTs, such as those derived from group II introns. To facilitate this transition, we dissected the individual processes that guide the enzymatic specificity and efficiency of the multistep template-switching reaction carried out by RTs, in this case, by MarathonRT. Remarkably, this is the first study of its kind, for any RT. First, we characterized the nucleotide specificity of nontemplated addition (NTA) reaction that occurs when the RT extends past the RNA 5'-terminus. We then evaluated the binding specificity of specialized template-switching oligonucleotides, optimizing their sequences and chemical properties to guide efficient template-switching reaction. Having dissected and optimized these individual steps, we then unified them into a procedure for performing RNA sequencing with MarathonRT enzymes, using a well-characterized RNA reference set. The resulting reads span a six-log range in transcript concentration and accurately represent the input RNA identities in both length and composition. We also performed RNA-seq from total human RNA and poly(A)-enriched RNA, with short- and long-read sequencing demonstrating that MarathonRT enhances the discovery of unseen RNA molecules by conventional RT. Altogether, we have generated a new pipeline for rapid, accurate sequencing of complex RNA libraries containing mixtures of long RNA transcripts.




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Characteristics of exacerbators in the US Bronchiectasis and NTM Research Registry: a cross-sectional study

Background

Exacerbations of noncystic fibrosis bronchiectasis (bronchiectasis) are associated with reduced health-related quality of life and increased mortality, likelihood of hospitalisation and lung function decline. This study investigated patient clinical characteristics associated with exacerbation frequency.

Methods

A cross-sectional cohort study of patients ≥18 years with bronchiectasis enrolled in the US Bronchiectasis and Nontuberculous Mycobacteria (NTM) Research Registry (BRR) September 2008–March 2020. Patients were stratified by exacerbation frequency in their 2 years before enrolment. Patient demographics, respiratory symptoms, healthcare resource utilisation, microbiology, modified bronchiectasis severity index (mBSI) and select comorbidities were collected at enrolment. Patient characteristics associated with exacerbation frequency were assessed using a negative binomial model.

Results

The study included 2950 patients (mean age 65.6 years; 79.1% female). Frequency of moderate to severe airway obstruction (forced expiratory volume in 1 s (FEV1) % predicted <50%; most recent measure) was 15.9%, 17.8%, and 24.6% in patients with 1, 2, and ≥3 exacerbations versus 8.9% in patients with 0 exacerbations; severe disease (mBSI) was 27.8%, 24.2% and 51.1% versus 13.2%; respiratory hospitalisation was 24.5%, 33.0% and 36.5% versus 4.1%; and Pseudomonas aeruginosa infection was 18.8%, 23.4% and 35.2% versus 11.9%. In multivariable model analysis, respiratory hospitalisation, cough, haemoptysis, P.  aeruginosa, younger age, lower FEV1% predicted, asthma, and gastro-oesophageal reflux disease were associated with more exacerbations.

Conclusions

These findings demonstrate a high disease burden, including increased respiratory symptoms, healthcare resource utilisation, and P.  aeruginosa infection in patients with bronchiectasis and multiple exacerbations.




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TB or not TB: does AI have an answer for children?

Extract

In 2021, the World Health Organization (WHO) issued recommendations for the use of artificial intelligence (AI), affirming the technology could be used instead of human readers for the interpretation of chest radiograph (CXR) images for the screening and triage of tuberculosis (TB), marking a historic precedent for a guideline on AI in health [1]. The forward-looking guidance highlights the utility of CXR in TB, despite past reluctance from WHO to use it in TB programmes [2]. Employing CXR in a diagnostic algorithm can identify people with subclinical TB who are asymptomatic but have lung pathology suggestive of TB, and refer them for testing and diagnosis [3].




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The Induction of Drug Uptake Transporter Organic Anion Transporting Polypeptide 1A2 by Radiation Is Mediated by the Nonreceptor Tyrosine Kinase v-YES-1 Yamaguchi Sarcoma Viral Oncogene Homolog 1 [Articles]

Organic anion transporting polypeptides (OATP, gene symbol SLCO) are well-recognized key determinants for the absorption, distribution, and excretion of a wide spectrum of endogenous and exogenous compounds including many antineoplastic agents. It was therefore proposed as a potential drug target for cancer therapy. In our previous study, it was found that low-dose X-ray and carbon ion irradiation both upregulated the expression of OATP family member OATP1A2 and in turn, led to a more dramatic killing effect when cancer cells were cotreated with antitumor drugs such as methotrexate. In the present study, the underlying mechanism of the phenomenon was explored in breast cancer cell line MCF-7. It was found that the nonreceptor tyrosine kinase v-YES-1 Yamaguchi sarcoma viral oncogene homolog 1 (YES-1) was temporally coordinated with the change of OATP1A2 after irradiation. The overexpression of YES-1 significantly increased OATP1A2 both at the mRNA and protein level. The signal transducer and activator of transcription 3 (STAT3) pathway is likely the downstream target of YES-1 because phosphorylation and nuclear accumulation of STAT3 were both enhanced after overexpressing YES-1 in MCF-7 cells. Further investigation revealed that there are two possible binding sites of STAT3 localized at the upstream sequence of SLCO1A2, the encoding gene of OATP1A2. Electrophoretic mobility shift assay and chromatin immunoprecipitation analysis suggested that these two sites bound to STAT3 specifically and the overexpression of YES-1 significantly increased the association of the transcription factor with the putative binding sites. Finally, inhibition or knockdown of YES-1 attenuated the induction effect of radiation on the expression of OATP1A2.

SIGNIFICANCE STATEMENT

The present study found that the effect of X-rays on v-YES-1 Yamaguchi sarcoma viral oncogene homolog 1 (YES-1) and organic anion transporting polypeptides (OATP)1A2 was temporally coordinated. YES-1 phosphorylates and increases the nuclear accumulation of signal transducer and activator of transcription 3, which in turn binds to the upstream regulatory sequences of SLCO1A2, the coding gene for OATP1A2. Hence, inhibitors of YES-1 may suppress the radiation induction effect on OATP1A2.




chi

Arachidonic Acid Directly Activates the Human DP2 Receptor [Article]

Aberrant type 2 inflammatory responses are the underlying cause of the pathophysiology of allergic asthma, allergic rhinitis, and other atopic diseases, with an alarming prevalence in relevant parts of the Western world. A bulk of evidence points out the important role of the DP2 receptor in these inflammation processes. A screening of different polyunsaturated fatty acids at a fluorescence resonance energy transfer–based DP2 receptor conformation sensor expressed in human embryonic kidney (HEK) cells revealed an agonistic effect of the prostaglandin (PG)-D2 precursor arachidonic acid on DP2 receptor activity of about 80% of the effect induced by PGD2. In a combination of experiments at the conformation sensor and using a bioluminescence resonance energy transfer–based G protein activation sensor expressed together with DP2 receptor wild type in HEK cells, we found that arachidonic acid acts as a direct activator of the DP2 receptor, but not the DP1 receptor, in a concentration range considered physiologically relevant. Pharmacological inhibition of cyclooxygenases and lipoxygenases as well as cytochrome P450 did not lead to a diminished arachidonic acid response on the DP2 receptor, confirming a direct action of arachidonic acid on the receptor.

SIGNIFICANCE STATEMENT

This study identified the prostaglandin precursor arachidonic acid to directly activate the DP2 receptor, a G protein–coupled receptor that is known to play an important role in type 2 inflammation.




chi

Health supervision for children and adolescents with 16p11.2 deletion syndrome [PRECISION MEDICINE IN PRACTICE]

Rare genetic conditions are challenging for the primary care provider to manage without proper guidelines. This clinical review is designed to assist the pediatrician, family physician, or internist in the primary care setting to manage the complexities of 16p11.2 deletion syndrome. A multidisciplinary medical home with the primary care provider leading the care and armed with up-to-date guidelines will prove most helpful to the rare genetic patient population. A special focus on technology to fill gaps in deficits, review of case studies on novel medical treatments, and involvement with the educational system for advocacy with an emphasis on celebrating diversity will serve the rare genetic syndrome population well.




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Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure [RESEARCH REPORT]

Alveolar capillary dysplasia (ACD) is a fatal disorder that typically presents in the neonatal period with refractory hypoxemia and pulmonary hypertension. Lung biopsy is traditionally required to establish the diagnosis. We report a 22-mo-old male who presented with anemia, severe pulmonary hypertension, and right heart failure. He had a complicated hospital course resulting in cardiac arrest and requirement for extracorporeal membrane oxygenation. Computed tomography of the chest showed a heterogenous pattern of interlobular septal thickening and pulmonary edema. The etiology of his condition was unknown, lung biopsy was contraindicated because of his medical fragility, and discussions were held to move to palliative care. Rapid whole-genome sequencing (rWGS) was performed. In 2 d it resulted, revealing a novel FOXF1 gene pathogenic variant that led to the presumptive diagnosis of atypical ACD. Cases of atypical ACD have been reported with survival in patients using medical therapy or lung transplantation. Based on the rWGS diagnosis and more favorable potential of atypical ACD, aggressive medical treatment was pursued. The patient was discharged home after 67 d in the hospital; he is currently doing well more than 30 mo after his initial presentation with only one subsequent hospitalization and no requirement for lung transplantation. Our case reveals the potential for use of rWGS in a critically ill child in which the diagnosis is unknown. rWGS and other advanced genetic tests can guide clinical management and expand our understanding of atypical ACD and other conditions.




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Selection of Affibody Molecules Using Escherichia coli Display

Affibody molecules are small (6-kDa) affinity proteins generated by directed evolution for specific binding to various target molecules. The first step in this workflow involves the generation of an affibody library, which can then be used for selection via multiple display methods. This protocol describes selection from affibody libraries by Escherichia coli cell surface display. With this method, high-diversity libraries of 1011 can be displayed on the cell surface. The method involves two steps for selection of binders from high-diversity libraries: magnetic-activated cell sorting (MACS) and fluorescence-activated cell sorting (FACS). MACS is used first to enrich the library in target-binding clones and to decrease diversity to a size that can be effectively screened and sorted in the flow cytometer in a reasonable time (typically <107 cells). The protocol is based on methodology using an AIDA-I autotransporter for display on the outer membrane, but the general procedures can also be adjusted and used for other types of autotransporters or alternative E. coli display methods.




chi

A Cluster-Randomized Study of Technology-Assisted Health Coaching for Weight Management in Primary Care [Original Research]

PURPOSE

We undertook a trial to test the efficacy of a technology-assisted health coaching intervention for weight management, called Goals for Eating and Moving (GEM), within primary care.

METHODS

This cluster-randomized controlled trial enrolled 19 primary care teams with 63 clinicians; 9 teams were randomized to GEM and 10 to enhanced usual care (EUC). The GEM intervention included 1 in-person and up to 12 telephone-delivered coaching sessions. Coaches supported goal setting and engagement with weight management programs, facilitated by a software tool. Patients in the EUC arm received educational handouts. We enrolled patients who spoke English or Spanish, were aged 18 to 69 years, and either were overweight (body mass index 25-29 kg/m2) with a weight-related comorbidity or had obesity (body mass index ≥30 kg/m2). The primary outcome (weight change at 12 months) and exploratory outcomes (eg, program attendance, diet, physical activity) were analyzed according to intention to treat.

RESULTS

We enrolled 489 patients (220 in the GEM arm, 269 in the EUC arm). Their mean (SD) age was 49.8 (12.1) years; 44% were male, 41% Hispanic, and 44% non-Hispanic Black. At 12 months, the mean adjusted weight change (standard error) was –1.4 (0.8) kg in the GEM arm vs –0.8 (1.6) kg in the EUC arm, a nonsignificant difference (P = .48). There were no statistically significant differences in secondary outcomes. Exploratory analyses showed that the GEM arm had a greater change than the EUC arm in mean number of weekly minutes of moderate to vigorous physical activity other than walking, a finding that may warrant further exploration.

CONCLUSIONS

The GEM intervention did not achieve clinically important weight loss in primary care. Although this was a negative study possibly affected by health system resource limitations and disruptions, its findings can guide the development of similar interventions. Future studies could explore the efficacy of higher-intensity interventions and interventions that include medication and bariatric surgery options, in addition to lifestyle modification.




chi

[PERSPECTIVES] Developmental Dysregulation of Childhood Cancer

Most childhood cancers possess distinct clinicopathological profiles from those seen in adulthood, reflecting their divergent mechanisms of carcinogenesis. Rather than depending on the decades-long, stepwise accumulation of changes within a mature cell that defines adult carcinomas, many pediatric malignancies emerge rapidly as the consequence of random errors during development. These errors—whether they be genetic, epigenetic, or microenvironmental—characteristically block maturation, resulting in phenotypically primitive neoplasms. Only an event that falls within a narrow set of spatiotemporal parameters will forge a malignant clone; if it occurs too soon then the event might be lethal, or negatively selected against, while if it is too late or in an incorrectly primed precursor cell then the necessary intracellular conditions for transformation will not be met. The precise characterization of these changes, through the study of normal tissues and tumors from patients and model systems, will be essential if we are to develop new strategies to diagnose, treat, and perhaps even prevent childhood cancer.




chi

Des politiques pour mieux soutenir les chirurgiennes enceintes [Commentaire]




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Xi Jinping celebrates China’s rising power — and his own

Watch Video | Listen to the Audio

HARI SREENIVASAN: President Xi Jinping opened China’s twice-per-decade Communist Party Congress today with a lengthy list of his achievements during his first five-year term, and his vision of where he hopes to take his nation.

But beyond the words, Xi is asserting power like no Chinese leader in decades.

William Brangham reports.

WILLIAM BRANGHAM: The applause, the music, it was a reception befitting the commanding role that Xi Jinping has taken since being named party leader five years ago.

He opened today’s proceedings by hailing reforms he’s put in place, and proclaiming a — quote — “new era for China.”

PRESIDENT XI JINPING, China (through interpreter): The Chinese nation has realized a great leap, from declining in modern history to twisting its fate fundamentally and continuously moving to prosperity.

WILLIAM BRANGHAM: Over 3.5 hours, Xi laid out his vision to shape the nation of 1.4 billion people into what he called a — quote — “great modern socialist country” over the next three decades.

PRESIDENT XI JINPING (through interpreter): Achieving the great rejuvenation of the Chinese nation will be no walk in the park, and it will take more than drumbeating and gong-clanging to get there. The whole party must be prepared to make more arduous, strenuous efforts.

WILLIAM BRANGHAM: Susan Shirk is chair of the 21st Century China Center at the University of California, San Diego.

SUSAN SHIRK, University of California, San Diego: Xi Jinping has a vision of China’s role in the world that is much more ambitious than anything we have seen before, talking about China kind of moving toward the center of the world and having a lot more influence than it did before.

WILLIAM BRANGHAM: In his address, Xi largely ignored the question of political reforms in China, and he didn’t mention President Trump or North Korea’s nuclear weapons program.

But in a rare move, he did acknowledge that with global demand weakening, there were challenges facing China’s export-driven economy.

PRESIDENT XI JINPING (through interpreter):  While China’s overall productive forces have significantly improved and in many areas our production capacity leads the world, the more prominent problem is that our development is unbalanced and inadequate.

WILLIAM BRANGHAM: Xi was one of the first foreign leaders to meet with President Trump.

PRESIDENT DONALD TRUMP: The relationship developed by President Xi and myself, I think, is outstanding.

WILLIAM BRANGHAM: That was decidedly warmer than Mr. Trump’s past criticism of China and its economic and trade policies.

But other U.S. officials are more critical of Beijing’s actions.

REX TILLERSON, Secretary of State: China, while rising alongside India, has done so less responsibly.

WILLIAM BRANGHAM: Secretary of State Rex Tillerson today criticized China’s aggressive displays of economic and military power, particularly its expansion on man-made islands in the South China Sea.

REX TILLERSON: We will not shrink from China’s challenges to the rules-based order, and where China subverts the sovereignty of neighboring countries and disadvantages the U.S. and our friends.

SUSAN SHIRK: I think there are things to worry about in Chinese foreign policy that are mostly related to these maritime sovereignty issues and to a kind of bullying in Asia, but the global ambition could turn out to be positive.

WILLIAM BRANGHAM: Susan Shirk says China has filled a vacuum left by the United States’ withdrawal from global agreements like the Trans-Pacific Partnership and the Paris climate accords.

Perhaps the most important thing to watch for in the next few days is who Xi establishes as his likely successor.

SUSAN SHIRK: That is why there is a lot of speculation now that he may be trying, much like Putin, to stay on beyond his normal term or to rule behind the scenes even after he retires.

WILLIAM BRANGHAM: President Trump will be traveling to Beijing to meet Xi next month.

For the PBS NewsHour, I’m William Brangham.

The post Xi Jinping celebrates China’s rising power — and his own appeared first on PBS NewsHour.




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