184 results match your criteria: "Mass General Hospital for Children[Affiliation]"

Renal hedgehog interacting protein (Hhip) activates sodium-glucose cotransporter 2 (Sglt2) expression and promotes tubular senescence in murine diabetic kidney disease (DKD), yet its underlying mechanism(s) are poorly understood. Here we study the effect of the SGLT2 inhibitor, canagliflozin on tubulopathy (fibrosis and apoptosis) in Akia/Hhip-transgenic (Tg) mice with overexpression of Hhip in their renal proximal tubular cells (RPTCs) and its relevant mechanisms. The DKD-tubulopathy with pronounced Sglt2 expression was aggravated in the kidney of Akita/Hhip-Tg cf.

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  • Concussions are common among young adults and can lead to persistent symptoms complicated by anxiety, which may affect recovery; a new program called TOR-C is designed to address both issues to improve outcomes after concussion.
  • The study involved five young adults participating in four weekly video sessions with a clinician, focusing on various psychological factors and measuring symptoms and feelings before, after, and three months later.
  • Results showed high feasibility and satisfaction, with strong adherence rates to the treatment and homework; most participants found the program credible and beneficial, indicating its potential for helping with concussion recovery.
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Parents of children with cancer provide paediatric palliative care (PPC). However, the activities they perform remain underexplored, especially in low- and middle-income countries (LMICs) where the care heavily relies on family involvement. The aim of this study is to identify parental PPC tasks and intentions to perform PPC tasks and to determine their associated factors.

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Changes in pancreatic steatosis by computed tomography 24 months after sleeve gastrectomy in youth with severe obesity.

Surg Obes Relat Dis

January 2025

Department of Radiology, Musculoskeletal Imaging and Intervention, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts; Department of Radiology, NYU Langone Health, New York, New York. Electronic address:

Background: Pancreatic steatosis has been associated with obesity and the metabolic syndrome. Studies in adults have demonstrated improvement in pancreatic steatosis following sleeve gastrectomy (SG) with concomitant improvement in glucose homeostasis.

Objectives: To examine changes in pancreatic steatosis in youth with severe obesity 24 months following SG.

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Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown.

Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model.

Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.

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  • Gestational diabetes mellitus (GDM) is a common pregnancy complication, requiring glycaemic control to prevent negative outcomes for both the mother and baby, with about 25% needing medication like insulin or metformin.
  • A study will compare the effectiveness and safety of metformin versus insulin in a diverse group of 1572 pregnant individuals needing treatment, tracking their health and their children's health for two years.
  • Ethical approval has been obtained, and plans include publishing detailed results on the findings related to treatment experiences and safety outcomes.
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Clinical presentation and factors associated with gluten exposure in children with celiac disease.

J Pediatr Gastroenterol Nutr

October 2024

Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Division of Gastroenterology, Hepatology and Nutrition, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

Objectives: The prevalence of celiac disease (CeD) is increasing, yet it is still underdiagnosed, in part because of its heterogeneous presentation. Diagnostic criteria are evolving and management with strict adherence to a gluten-free diet is challenging for many. We aimed to characterize the clinical presentation of CeD among a large multicenter cohort of pediatric patients and to identify factors associated with gluten-free diet adherence.

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Background: Immune cell populations in the intestinal muscularis propria during colitis are poorly resolved. Maintaining homeostasis in this niche is critical, highlighted by the poorer prognosis of inflammatory bowel disease associated with muscularis propria inflammation.

Methods: This study utilizes single-cell RNA sequencing to survey the immune cell populations within the muscularis propria of normal colon and dextran sodium sulfate-induced colitis.

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Introduction: A life course perspective in maternal, child, and family health allows for integrated exploration of outcomes, incorporating multifactorial determinants of health to interrogate sources of inequity and identify opportunities for intervention. This article explores the historical development, integration, and implications of the contemporary life course perspective in the field of maternal and child health (MCH), and particularly the people and events which institutionalized the framework as central to national and local MCH practice and research over the last decades.

Methods: Drawing on an oral history approach, key leaders of the life course movement in MCH were interviewed.

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A Multi-Omics Approach to Defining Target Organ Injury in Youth with Primary Hypertension.

bioRxiv

June 2024

Department of Internal Medicine, Division of Cardiovascular Health and Diseases, Center for Cardiovascular Research, University of Cincinnati College of Medicine, Cincinnati, OH.

Article Synopsis
  • Primary hypertension in children can lead to increased cardiovascular risks as they grow into adults, making early studies crucial for understanding organ damage.
  • A study involving 132 youths showed significant correlations between blood pressure levels, gene expression, and molecular profiles, highlighting distinct biological changes in those with high blood pressure.
  • Findings suggest that mechanisms behind elevated blood pressure could involve issues with blood vessel growth and tissue breakdown, offering potential targets for intervention in preventing long-term cardiovascular damage.
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  • DGAT1 deficiency leads to serious health issues in infants, such as diarrhea and protein-losing enteropathy, making dietary management critical for treatment.
  • A study from 2014 to 2020 involved 12 infants with this condition, resulting in new dietary recommendations that focus on an ultralow fat formula combined with lipid infusions.
  • The findings suggest that with proper nutritional management, infants can avoid total parenteral nutrition (TPN), improving their growth, development, and overall health while effectively addressing their symptoms.
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Background: Facebook (FB) is the most popular online networking platform. Many celiac disease Facebook (CD-FB) pages spread awareness about celiac disease (CD). To get the latest information, patients with CD frequently follow such pages.

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GM2 gangliosidoses (GM2) are a group of rare lysosomal storage disorders in which accumulation of GM2 gangliosides results in progressive central nervous system damage. The infantile GM2 phenotype is characterized by delays in milestones by 6 months of age, followed by rapid loss of motor, cognitive, and visual function. Advancements in early diagnosis and pharmacotherapies provide promise for improved outcomes.

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Background: Experiencing the illness and death of a child is a traumatic experience for the parents and the child's siblings. However, knowledge regarding effective grief interventions targeting the whole family is limited, including how to integrate age-appropriate support for siblings.

Aim: We aimed to synthesize the empirical literature regarding grief interventions that target the whole family before and/or after the death of a child.

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  • Obesity in pediatric Crohn's disease (PCD) patients may impact their response to anti-tumor necrosis factor (TNF) treatment, especially with adalimumab (ADA) compared to infliximab (IFX).
  • In a study involving 224 participants, higher body mass index (BMI) was linked to higher treatment failure rates and lower ADA levels in patients receiving ADA therapy, but not in those on IFX.
  • This suggests standard ADA dosages might be inadequate for overweight and obese children with PCD, highlighting the need for tailored dosing strategies.
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Objectives: Recommendations for surgical repair of a congenital heart defect in children with trisomy 13 or trisomy 18 remain controversial, are subject to biases, and are largely unsupported with limited empirical data. This has created significant distrust and uncertainty among parents and could potentially lead to suboptimal care for patients. A working group, representing several clinical specialties involved with the care of these children, developed recommendations to assist in the decision-making process for congenital heart defect care in this population.

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Heterogeneous nuclear ribonucleoprotein F (HnRNP F) is a key regulator for nucleic acid metabolism; however, whether HnRNP F expression is important in maintaining podocyte integrity is unclear. Nephroseq analysis from a registry of human kidney biopsies was performed. Age- and sex-matched podocyte-specific HnRNP F knockout (HnRNP F KO) mice and control (HnRNP F) were studied.

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Helping Us Grow Stronger (HUGS)/Abrazos: a community-based initiative improved perinatal mental health in an urban cohort.

Am J Obstet Gynecol MFM

February 2024

Department of Obstetrics and Gynecology, Massachusetts General Hospital and Harvard Medical School, Boston, MA (Drs Siegel, James, Shook, and Edlow); Vincent Center for Reproductive Biology, Massachusetts General Hospital, Boston, MA (Mses Swift, Kim, and Jasset and Drs Shook and Edlow). Electronic address:

Background: Targeted programs aimed at improving maternal mental health, particularly among those exposed to social determinants of health, are increasingly critical since the onset of the COVID-19 pandemic, yet the impact of such programs is poorly understood.

Objective: This study aimed to evaluate the impact of a novel, language-concordant community-based program on perinatal mental health.

Study Design: We conducted a prospective cohort study of peripartum individuals referred to a new community-based intervention known as Helping Us Grow Stronger (HUGS/Abrazos).

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Importance: Traumatic brain injury (TBI) is associated with persistent functional and cognitive deficits, which may be susceptible to secondary insults. The implications of exposure to surgery and anesthesia after TBI warrant investigation, given that surgery has been associated with neurocognitive disorders.

Objective: To examine whether exposure to extracranial (EC) surgery and anesthesia is related to worse functional and cognitive outcomes after TBI.

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Article Synopsis
  • - The study explores pre-mRNA splicing, its critical role in neurodevelopment, and how mutations in spliceosome-related genes U2AF2 and PRPF19 contribute to neurodevelopmental disorders (NDDs).
  • - Researchers found multiple pathogenic variants in U2AF2 and PRPF19 across unrelated individuals, with functional analysis showing that specific U2AF2 variants disrupted normal splicing and neuritogenesis in human neurons.
  • - Additionally, investigations in Drosophila models revealed that the loss of function in U2AF2 and PRPF19 caused severe developmental defects and social issues, pointing to a genetic network wherein splicing factors like Rbfox1 play a significant role in brain development and function. *
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  • The American Academy of Pediatrics envisions a child and adolescent health care system that is individualized, equitable, and comprehensive, allowing all young individuals access to optimal growth and development resources.
  • Medicaid and CHIP are essential programs that currently serve around half of all children, especially those from underrepresented racial and ethnic backgrounds and those with complex medical needs.
  • The statement discusses necessary reforms for Medicaid and CHIP to improve health outcomes and equity, focusing on areas like eligibility, service standardization, and financing, while also suggesting immediate regulatory actions for enhancement.
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The Academy of Breastfeeding Medicine (ABM) revised the 2015 version of the substance use disorder (SUD) clinical protocol to review the evidence and provide updated literature-based recommendations related to breastfeeding in the setting of substance use and SUD treatments. Decisions around breastfeeding are an important aspect of care during the peripartum period, and there are specific benefits and risks for substance-exposed mother-infant dyads. This protocol provides breastfeeding recommendations in the setting of nonprescribed opioid, stimulant, sedative-hypnotic, alcohol, nicotine, and cannabis use, and SUD treatments.

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Background: Concerns about the pediatric pulmonology workforce suggest a need to improve fellowship recruitment. Program size is related to the financial health and recruitment success of pediatric subspecialty education programs, but there are few data on how program size impacts recruitment and workforce in pediatric pulmonology.

Objective: Assess the impact of program size in pediatric pulmonology through examination of the distribution of applicants matching into pediatric pulmonology training programs over time and relationships to workforce distribution.

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