424 results match your criteria: "the University of Pennsylvania Perelman School of Medicine[Affiliation]"

Article Synopsis
  • * Results indicate that as people age, T cell subsets shift toward a more activated state, and naive CD4 T cells undergo significant genetic changes despite previously being thought resilient to aging.
  • * A new subtype of CD8αα T cells, which is lost with age and is important for quick immune responses, was identified, highlighting the complex molecular changes in T cells that may influence how the immune system functions differently
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Article Synopsis
  • * The review discusses techniques for assessing bone health in patients and evaluates the effectiveness of these methods within the context of the neurofibromatosis type 1 population.
  • * The authors advocate for a longitudinal study to track bone-related issues over time and suggest incorporating simpler bone health measurements as additional goals in existing clinical trials.
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Pediatric sepsis is a leading cause of morbidity and mortality in children globally. Children who require the pediatric intensive care unit (PICU) are at high risk for new or worsening co-morbidities, as well as readmission. This review describes the current state of protocolized follow-up after pediatric sepsis requiring PICU admission.

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Objectives: Non-compressive strain elastography has been proposed as a novel quantitative imaging biomarker for assessing the structure and function of the cervix. The current study aims to assess the repeatability, and intra- and inter-observer reliability of transvaginal non-compressive cervical strain elastography in a clinical setting.

Methods: We conducted a dual-phase single-center prospective feasibility study of singleton gestations >16-weeks gestation that required a clinically-indicated transvaginal ultrasound.

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Cytological features of central nervous system germ cell tumours and tumours of the sellar region.

Cytopathology

September 2024

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Germ cell tumours of the central nervous system and tumours of the sellar region represent a diverse group of neoplasms. These tumours affect both paediatric and adult patients and represent some of the most common central nervous system tumours as well as rare entities. Diagnosis frequently relies on tissue sampling, and intraoperative consultation is often needed to guide surgical management.

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Although genome wide association studies (GWAS) have been crucial for the identification of loci associated with sleep traits and disorders, the method itself does not directly uncover the underlying causal variants and corresponding effector genes. The overwhelming majority of such variants reside in non-coding regions and are therefore presumed to impact the activity of -regulatory elements, such as enhancers. Our previously reported 'variant-to-gene mapping' effort in human induced pluripotent stem cell (iPSC)-derived neural progenitor cells (NPCs), combined with validation in both and zebrafish, implicated as a functionally relevant gene at the insomnia '' locus.

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Perinatal hypoxic-ischemic brain injury: What's behind the "ribbon effect"?

J Neuropathol Exp Neurol

September 2023

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Ribbon effect describes a perceived macroscopic color reversal of the gray and white matter, characterized by a pale cortex and diffusely dusky underlying white matter. This finding is thought to be unique to the perinatal period and indicative of hypoxic-ischemic injury. However, the clinical and microscopic correlates of this macroscopic finding have not been clearly defined.

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Objectives: To develop, evaluate, and explore the use of a pediatric ordinal score as a potential clinical trial outcome metric in children hospitalized with acute hypoxic respiratory failure caused by viral respiratory infections.

Design: We modified the World Health Organization Clinical Progression Scale for pediatric patients (CPS-Ped) and assigned CPS-Ped at admission, days 2-4, 7, and 14. We identified predictors of clinical improvement (day 14 CPS-Ped ≤ 2 or a three-point decrease) using competing risks regression and compared clinical improvement to hospital length of stay (LOS) and ventilator-free days.

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Validity and reliability of in-person and remote oral fluids drug testing compared to urine drug testing.

Drug Alcohol Depend

September 2023

Department of Psychiatry at the University of Pennsylvania Perelman School of Medicine, 3535 Market StreetPhiladelphiaPA19104United States; Mental Illness Research, Education, and Clinical Center of the Veterans Integrated Service Network 4, Corporal Michael J. Crescenz VA Medical Center, 3900 Woodland AvenuePhiladelphiaPA19104United States.

Background: Increased telehealth use has led to greater interest in remote drug testing. The speed, acceptability, and ability to observe oral fluids testing makes it the best candidate for remote drug testing, but its validity and reliability compared to gold-standard urine drug testing have not been established.

Methods: Veterans (N = 99) recruited from mental health clinics completed in-person and remote oral fluids testing and in-person urine drug testing.

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VIP interneuron impairment promotes in vivo circuit dysfunction and autism-related behaviors in Dravet syndrome.

Cell Rep

June 2023

Neuroscience Graduate Group, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; Department of Neurology, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; Department of Neuroscience, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address:

Dravet syndrome (DS) is a severe neurodevelopmental disorder caused by loss-of-function variants in SCN1A, which encodes the voltage-gated sodium channel subunit Nav1.1. We recently showed that neocortical vasoactive intestinal peptide interneurons (VIP-INs) express Nav1.

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Pleiotropic effects of a high confidence Autism Spectrum Disorder gene, , on zebrafish sleep.

Neurobiol Sleep Circadian Rhythms

May 2023

Division of Sleep Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Sleep fulfills critical functions in neurodevelopment, such as promoting synaptic plasticity, neuronal wiring, and brain connectivity which are critical phenomena in Autism Spectrum Disorder (ASD) pathophysiology. Sleep disturbance, specifically insomnia, accompanies ASD and is associated with more severe core symptoms (e.g.

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Objectives: Autonomy is necessary for resident professional development and well-being. A recent focus on patient safety has increased supervision and decreased trainee autonomy. Few validated interventions exist to improve resident autonomy.

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Rhythmic intraorgan communication coordinates environmental signals and the cell-intrinsic clock to maintain organ homeostasis. Hepatocyte-specific KO of core components of the molecular clock Rev-erbα and -β (Reverb-hDKO) alters cholesterol and lipid metabolism in hepatocytes as well as rhythmic gene expression in nonparenchymal cells (NPCs) of the liver. Here, we report that in fatty liver caused by diet-induced obesity (DIO), hepatocyte SREBP cleavage-activating protein (SCAP) was required for Reverb-hDKO-induced diurnal rhythmic remodeling and epigenomic reprogramming in liver macrophages (LMs).

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Among extant great apes, orangutans are considered the most sexually dimorphic in body size. However, the expression of sexual dimorphism in orangutans is more complex than simply males being larger than females. At sexual maturity, some male orangutans develop cheek pads (flanges), while other males remain unflanged even after becoming reproductively capable.

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Genetics and epigenetics in the obesity phenotyping scenario.

Rev Endocr Metab Disord

October 2023

Center for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.

Obesity is a common complex trait that elevates the risk for various diseases, including type 2 diabetes and cardiovascular disease. A combination of environmental and genetic factors influences the pathogenesis of obesity. Advances in genomic technologies have driven the identification of multiple genetic loci associated with this disease, ranging from studying severe onset cases to investigating common multifactorial polygenic forms.

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Some caveats about using body composition reference charts for infants from birth to 24 months.

Am J Clin Nutr

June 2023

Division of GI, Hepatology and Nutrition, The Children's Hospital of Philadelphia, Department of Pediatrics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. Electronic address:

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Background: Surgery for older Americans is increasingly being performed at ambulatory surgery centers (ASCs) rather than hospital outpatient departments (HOPDs), while rates of multimorbidity have increased.

Objective: To determine whether there are differential outcomes in older patients undergoing surgical procedures at ASCs versus HOPDs.

Research Design: Matched cohort study.

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Contemporary Use of Ultrasonography in Acute Care Pediatrics.

Indian J Pediatr

May 2023

Division of Pediatric Critical Care Medicine, Department of Anesthesiology & Critical Care Medicine, The Children's Hospital of Philadelphia and the University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

Use of ultrasonography by clinicians at the point of care has expanded widely and rapidly. Pediatric acute care providers now leverage this valuable tool to guide procedures, diagnose pathophysiologic processes, and inform time-sensitive decisions in sick and unstable children. However, the deployment of any new technology must be packaged with training, protocols, and safeguards to optimize safety for patients, providers, and institutions.

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Genome-wide association studies have revealed a plethora of genetic variants that correlate with polygenic conditions. However, causal molecular mechanisms have proven challenging to fully define. Without such information, the associations are not physiologically useful or clinically actionable.

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Background: The female sex hormones estradiol (E) and progesterone (P) galvanize the ventral striatal reward pathway. E elevates ventral striatal dopamine and accelerates drug-cued reinstatement, while P has opposing 'protective' effects on drug-related behavior. We hypothesize that women may exhibit greater ventral striatal responses to smoking cues (SCs) during the late follicular phase of the menstrual cycle (MC) when E is high and unimpeded by P, and reduced responses during the late luteal phase when P is high.

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Background: Randomized trials in pregnancy are extremely challenging, and observational studies are often the only option to evaluate medication safety during pregnancy. However, such studies are often susceptible to immortal time bias if treatment initiation occurs after time zero of follow-up. We describe how emulating a sequence of target trials avoids immortal time bias and apply the approach to estimate the safety of antibiotic initiation between 24 and 37 weeks gestation on preterm delivery.

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Purpose: To optimize a virtual reality (VR) orientation and mobility (O&M) test of functional vision in patients with inherited retinal degenerations (IRDs).

Methods: We developed an O&M test using commercially available VR hardware and custom-generated software. Normally sighted subjects (n = 20, ages = 14-67 years) and patients with IRDs (n = 29, ages = 15-63 years) participated.

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Association of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Infection With Maternal Mortality and Neonatal Birth Outcomes in Botswana by Human Immunodeficiency Virus Status.

Obstet Gynecol

January 2023

The Children's Hospital of Philadelphia and the University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania; the Botswana Harvard AIDS Institute Partnership, the Department of Internal Medicine, University of Botswana, the Ministry of Health and Wellness, and the Botswana-Baylor Children's Clinical Centre of Excellence, Gaborone, Botswana; and the Department of Obstetrics and Gynecology and the Division of Infectious Diseases, Beth Israel Deaconess Medical Center, the Division of Infectious Diseases, Brigham and Women's Hospital, and the Department of Immunology and Infectious Diseases, Harvard T.H. Chan School of Public Health, Boston, Massachusetts.

Objective: To evaluate the combined association of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and human immunodeficiency virus (HIV) infection on adverse birth outcomes in an HIV-endemic region.

Methods: The Tsepamo Study abstracts data from antenatal and obstetric records in government maternity wards across Botswana. We assessed maternal mortality and adverse birth outcomes for all singleton pregnancies from September 2020 to mid-November 2021 at 13 Tsepamo sites among individuals with documented SARS-CoV-2 screening tests and known HIV status.

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