12,935 results match your criteria: "National Institute of Child Health and Human Development.[Affiliation]"

Cortisol and ACTH response to Dex/CRH testing and 24-hour urine free cortisol levels in women with and without premenstrual dysphoric disorder.

Psychoneuroendocrinology

November 2024

Behavioral Endocrinology Branch, National Institute of Mental Health, National Institute of Health, Bethesda, MD, United States. Electronic address:

Hyperactive and hyperreactive HPA axis functions are frequently reported in depressive disorders, particularly in major depression. However, research into HPA axis function in women with premenstrual dysphoric disorder (PMDD), which is also classified as a depressive disorder, has shown inconsistent results. This study aimed to characterize the HPA axis in women with PMDD using the combined dexamethasone suppression and CRH stimulation (Dex/CRH) test, alongside measurements of 24-hour urine free cortisol (UFC).

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Lower subjective status is associated with reduced satiation and satiety among children and adolescents: A laboratory study.

Appetite

December 2024

Section on Growth and Obesity, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

Article Synopsis
  • The study investigates how children's perceptions of their social and socioeconomic status (subjective status) affect feelings of fullness (satiation) and hunger (satiety) after eating.
  • It found that children with lower subjective social status (SSS) feel less satiated after eating and report higher hunger levels over the next 90 minutes.
  • The findings suggest that experiencing low subjective status might dull feelings of fullness, potentially leading to overeating and higher body mass in children and adolescents.
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Article Synopsis
  • Antiretroviral therapy (ART) helps suppress HIV but doesn't fully normalize cytokine levels; long-term effects of ART on these immune markers haven't been thoroughly researched.
  • A study tracked 31 men and 59 women on ART for an average of 6 years, measuring changes in 40 cytokines/chemokines, finding that while most stayed stable, certain markers decreased over time, while others increased.
  • Results showed sex and race differences in specific cytokine levels, with women exhibiting higher innate immune activation; overall, ART may reduce inflammation and lower the risk of diseases related to cardiovascular health.
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Genetics of urinary bladder paragangliomas: a multi-center study of a Chinese cohort.

J Endocrinol Invest

December 2024

Department of Urology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.

Article Synopsis
  • The study explores the genetic characteristics of urinary bladder paragangliomas (UBPGLs) in a cohort of 70 Chinese patients, aiming to better understand their heritability and genetic variations.
  • Results show that 38 patients had pathogenic variants (PVs), mainly in cluster 1A genes like SDHB and HRAS, with UBPGLs showing higher PV rates in cluster 1A compared to non-head and neck PGLs.
  • The findings indicate a diverse genetic profile among Chinese patients with UBPGLs, emphasizing the necessity for genetic testing to identify significant pathogenic variants.
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Using deep learning to classify developmental differences in reaching and placing movements in children with and without autism spectrum disorder.

Sci Rep

December 2024

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Building 49, Room 5A82, 49 Convent Drive, Bethesda, MD, 20892-4480, USA.

Article Synopsis
  • Autism Spectrum Disorder (ASD) is commonly diagnosed through behavioral analyses, but this study aims to improve diagnosis by using upper limb movement kinematics and deep learning methods to identify potential biomarkers in children.
  • The research involved 41 school-age children (with and without ASD) using an Inertial Measurement Unit (IMU) on their wrist while performing tasks, revealing distinct movement patterns in children with ASD compared to typical development (TD) children.
  • The study achieved a classification accuracy of about 78.1% using a Multilayer Perceptron model, highlighting the promise of incorporating motion analysis and advanced technology for earlier and more objective ASD diagnosis.
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Article Synopsis
  • SARS-CoV-2, the virus responsible for COVID-19, has led to a global pandemic with high death rates, prompting the need for more effective antiviral treatments.
  • The study highlights lonafarnib (LNF), an FDA-approved drug, as an effective inhibitor against SARS-CoV-2, working well both alone and in combination with existing antivirals, while also showing effectiveness against various virus variants.
  • In tests on humanized mice, LNF demonstrated the ability to reduce viral levels and improve lung health, suggesting it could be a valuable oral treatment option for COVID-19 and possibly other viral infections.
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An update on epigenetic mechanisms in endometriosis.

Minerva Obstet Gynecol

December 2024

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

The etiopathogenesis of endometriosis, a chronic debilitating disease affecting nearly 10% of women, has evaded elucidation until the recent epigenetic discoveries. Although still deemed multifactorial, endometriosis is likely predisposed in women with genetic and epigenetic alterations, which are activated by environmental factors. There are many epigenetic changes that have recently been associated with endometriosis: DNA methylation and phosphorylation, modifications to histones and non-coding RNA, and chromatin remodeling and organization.

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Broadly conserved FlgV controls flagellar assembly and Borrelia burgdorferi dissemination in mice.

Nat Commun

November 2024

Division of Molecular and Cellular Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA.

Article Synopsis
  • Flagella are crucial for the movement of pathogens like the Lyme spirochete Borrelia burgdorferi, but their production is costly and triggers immune responses, leading to complex regulatory systems controlling their gene expression.
  • The study identifies the gene bb0268 (flgV) in B. burgdorferi as a structural component of the flagella, rather than the previously thought RNA-binding protein, which plays a significant role in flagellar assembly.
  • FlgV is essential for producing functional flagella and affects the bacteria's motility and ability to infect hosts, highlighting its importance in the pathogen's life cycle, especially during infection phases.
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Background: Respiratory syncytial virus (RSV) is the leading cause of acute lower respiratory illness among young children. Human immunodeficiency virus (HIV)-exposed, uninfected (HEU) children experience a higher burden of RSV disease and have immune abnormalities that may influence their responses to live-attenuated RSV vaccines.

Methods: In a pooled analysis of clinical trials of 7 live-attenuated, intranasal RSV vaccines conducted by the IMPAACT Network among children 6 to <25 months of age with serum RSV-neutralizing titers of <1:40, the infectivity and immunogenicity of these vaccines were compared among HEU and HIV-unexposed, uninfected (HUU) children.

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is an obligate intracellular parasite, and the delivery of effector proteins from the parasite into the host cell during invasion is critical for invasion itself and for parasite virulence. The effector proteins are released from specialized apical secretory organelles known as rhoptries. While much has been learned recently about the structure and composition of the rhoptry exocytic machinery and the function of individual rhoptry effector proteins that are exocytosed, virtually nothing is known about how the released proteins are translocated across the host cell plasma membrane.

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Cesarean delivery and blood DNA methylation at birth and childhood: Meta-analysis in the Pregnancy and Childhood Epigenetics Consortium.

Sci Adv

November 2024

Division of Chronic Disease Research Across the Lifecourse (CoRAL), Department of Population Medicine, Harvard Medical School, Harvard Pilgrim Health Care Institute, Boston, MA 02215, USA.

Article Synopsis
  • - Children born via cesarean delivery have a greater risk of various health issues compared to those born vaginally, but the exact reasons are still not fully understood.
  • - A meta-analysis involving over 12,000 participants found six specific DNA methylation markers in newborns linked to cesarean delivery, but these markers did not persist into childhood.
  • - The study indicates that cesarean delivery affects certain blood cell proportions at birth, but further research is necessary to understand its long-term impacts on child health.
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The Drosophila neuromuscular junction (NMJ) is a powerful genetic system that has revealed numerous conserved mechanisms for synapse development and homeostasis. The fly NMJ uses glutamate as the excitatory neurotransmitter and relies on kainate-type glutamate receptors and their auxiliary protein Neto for synapse assembly and function. However, despite decades of study, the reconstitution of NMJ glutamate receptors using heterologous systems has been achieved only recently, and there are no reports on the gating properties for the recombinant receptors.

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Complementary and additive functions of TRα and TRβ during intestinal remodeling as revealed by ChIP-Seq analysis on wild type and TR knockout animals.

Gen Comp Endocrinol

January 2025

Section on Molecular Morphogenesis, Cell Regulation and Development Affinity Group, Division of Molecular and Cellular Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA. Electronic address:

Intestinal structure is drastically changed from fetal to adult form during postembryonic development, a period around birth in mammals. This process is regulated by thyroid hormone (T3) via its receptors, T3 receptor (TR) α and TRβ during anuran metamorphosis. Here, we used intestinal remodeling during Xenopus tropicalis metamorphosis, which serves as a model for human postembryonic development, to identify TR-bound genes and determine the relative contribution to target gene binding by TRα and TRβ.

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Gene module reconstruction identifies cellular differentiation processes and the regulatory logic of specialized secretion in zebrafish.

Dev Cell

November 2024

Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA; Biozentrum, University of Basel, Basel 4056, Switzerland; Allen Discovery Center for Cell Lineage Tracing, University of Washington, Seattle, WA 98195, USA. Electronic address:

During differentiation, cells become structurally and functionally specialized, but comprehensive views of the underlying remodeling processes are elusive. Here, we leverage single-cell RNA sequencing (scRNA-seq) developmental trajectories to reconstruct differentiation using two secretory tissues as models-the zebrafish notochord and hatching gland. First, we integrated expression and functional similarities to identify gene modules, revealing dozens of modules representing known and newly associated differentiation processes and their dynamics.

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The yeast genome is globally accessible in living cells.

Nat Struct Mol Biol

November 2024

Division of Developmental Biology, Eunice Kennedy-Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

Eukaryotic genomes are packaged into chromatin, which is composed of condensed filaments of regularly spaced nucleosomes, resembling beads on a string. The nucleosome contains ~147 bp of DNA wrapped almost twice around a central core histone octamer. The packaging of DNA into chromatin represents a challenge to transcription factors and other proteins requiring access to their binding sites.

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Genetic Approaches for Identifying and Characterizing Effectors in Bacterial Pathogens.

Annu Rev Genet

November 2024

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA; email:

Microbial pathogens have coevolved with their hosts, often for millions of years, and in the process have developed a variety of virulence mechanisms to ensure their survival, typically at the host's expense. At the center of this host-pathogen warfare are proteins called effectors that are delivered by bacteria into their host where they alter the intracellular environment to promote bacterial proliferation. Many effectors are believed to have been acquired by the bacteria from their host during evolution, explaining why researchers are keen to understand their function, as this information may provide insight into both microbial virulence strategies and biological processes that happen within our own cells.

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ARMH3 is an ARL5 effector that promotes PI4KB-catalyzed PI4P synthesis at the trans-Golgi network.

Nat Commun

November 2024

Division of Neurosciences and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

ARL5 is a member of the ARF family of small GTPases that is recruited to the trans-Golgi network (TGN) by another ARF-family member, ARFRP1, in complex with the transmembrane protein SYS1. ARL5 recruits its effector, the multisubunit tethering complex GARP, to promote SNARE-dependent fusion of endosome-derived retrograde transport carriers with the TGN. To further investigate the function of ARL5, we sought to identify additional effectors.

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Gonadal Tumors in Individuals with Turner Syndrome and Y-Chromosome Mosaicism: A Retrospective Multisite Study.

J Pediatr Adolesc Gynecol

November 2024

Pediatric and Adolescent Gynecology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland.

Study Objective: To evaluate the prevalence of germ cell tumors and the clinical monitoring practices for those who deferred prophylactic gonadectomy in a large North American cohort of individuals with Turner syndrome with Y-chromosome mosaicism (TS+Y).

Method: A query of the medical records at multiple North American children's hospitals was done using ICD codes related to Turner Syndrome. A retrospective chart review was conducted on those patients between ages 0 to 30 years with Y-mosaicism.

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Article Synopsis
  • The study aimed to improve counseling and outcomes for adolescents (ages 10-24) with polycystic ovary syndrome (PCOS) by reviewing randomized controlled trials on lifestyle interventions with or without medications.
  • A systematic literature search identified 13 studies involving 789 participants, all assessed for bias, but a meta-analysis was not possible due to significant differences among studies.
  • Findings suggest that lifestyle interventions, particularly those combining exercise and healthy eating, show promise in improving symptoms related to PCOS, though more research is needed for those aged 10-17.
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Study Objective: To evaluate practice patterns in ovarian tissue cryopreservation (OTC) provision METHODS: US providers practicing or developing OTC in pediatric programs were invited to participate in a survey disseminated via the Oncofertility Consortium.

Results: Twenty-seven programs representing a wide geographic area responded, largely representing academic institutions (85.2%).

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Article Synopsis
  • Pyometra is a rare condition characterized by pus in the uterus, which can cause serious complications like uterine perforation.
  • A 33-year-old woman experienced post-operative perforated pyometra after a myomectomy, but instead of a hysterectomy, she received conservative treatment that included surgical cleaning and antibiotics.
  • This case demonstrates the effectiveness of uterine-sparing approaches in selected patients, enabling the woman to later achieve a successful pregnancy.
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The short conserved region-2 of LARP4 interacts with ribosome-associated RACK1 and promotes translation.

bioRxiv

November 2024

Section on Molecular and Cellular Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.

LARP4 interacts with poly(A)-binding protein (PABP) to protect mRNAs from deadenylation and decay, and recent data indicate it can direct the translation of functionally related mRNA subsets. LARP4 was known to bind RACK1, a ribosome-associated protein, although the specific regions involved, and relevance had been undetermined. Here, yeast two-hybrid domain mapping followed by other methods identified positions 615-625 in conserved region-2 (CR2) of LARP4 (and LARP4B) as directly binding RACK1 region 200-317.

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Guidelines regarding the optimal use and timing of anti-Mullerian hormone (AMH) screening in childhood cancer survivors to evaluate for the risk of premature ovarian insufficiency or reduced fertility potential are lacking. We conducted a systematic review of the current evidence supporting AMH screening of female childhood cancer survivors with the overall objective to identify gaps in the literature needing further study, to allow for future data-driven recommendations. Search terms included "cancer, fertility, and anti-Mullerian hormone.

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Tissue-mimicking reference phantoms are indispensable for the development and optimization of magnetic resonance (MR) measurement sequences. Phantoms have greatest utility when they mimic the MR signals arising from tissue physiology; however, many of the properties underlying these signals, including tissue relaxation characteristics, can vary as a function of magnetic field strength. There has been renewed interest in magnetic resonance imaging (MRI) at field strengths less than 1 T, and phantoms developed for higher field strengths may not be physiologically relevant at these lower fields.

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