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The Perelman School of Medicine at the ... Publications | LitMetric

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

Reply to: Accurate Determinants of Outcome in ALL.

J Clin Oncol

December 2024

Ti-Cheng Chang, PhD, Center for Applied Bioinformatics, St Jude Children's Research Hospital, Memphis, TN; Wenan Chen, PhD, Center for Applied Bioinformatics, St Jude Children's Research Hospital, Memphis, TN, Division of Computational Biology, Mayo Clinic, Rochester, MN; Chunxu Qu, PhD, Department of Pathology, St Jude Children's Research Hospital, Memphis, TN; Zhongshan Cheng, PhD, Center for Applied Bioinformatics, St Jude Children's Research Hospital, Memphis, TN; Abdelrahman Elsayed, PhD and Stanley B. Pounds, PhD, Department of Biostatistics, St Jude Children's Research Hospital, Memphis, TN; Mary Shago, PhD, Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada; Karen R. Rabin, MD, PhD, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Elizabeth A. Raetz, MD, Department of Pediatrics, Perlmutter Cancer Center, NYU Langone Hospital, New York, NY; Meenakshi Devidas, PhD, Global Pediatric Medicine, St Jude Children's Research Hospital, Memphis, TN; Cheng Cheng, PhD, Department of Biostatistics, St Jude Children's Research Hospital, Memphis, TN; Anne Angiolillo, MD, Children's National Medical Center, Washington, DC; Pradyuamma Baviskar, PhD, Department of Pathology, St Jude Children's Research Hospital, Memphis, TN; Michael Borowitz, MD, Department of Pathology, Johns Hopkins University, Baltimore, MD; Michael J. Burke, MD, Division of Pediatric Hematology-Oncology, Medical College of Wisconsin, Milwaukee, WI; Andrew Carroll, PhD, Department of Genetics, University of Alabama at Birmingham, Birmingham, AL; William L. Carroll, MD, Department of Pediatrics, Perlmutter Cancer Center, NYU Langone Hospital, New York, NY; I-Ming Chen, DVM and Richard Harvey, PhD, Department of Pathology, University of New Mexico, Albuquerque, NM; Nyla Heerema, PhD, The Ohio State University, Columbus, OH; Ilaria Iacobucci, PhD, Department of Pathology, St Jude Children's Research Hospital, Memphis, TN; Jeremy R. Wang, PhD, Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC; Sima Jeha, MD, Department of Oncology, St Jude Children's Research Hospital, Memphis, TN; Eric Larsen, MD, Department of Pediatrics, Maine Children's Cancer Program, Scarborough, ME; Leonard Mattano, MD, HARP Pharma Consulting, Mystic, CT; Kelly Maloney, MD, Department of Pediatrics and Children's Hospital Colorado, University of Colorado, Aurora, CO; Ching-Hon Pui, MD, Department of Oncology, St Jude Children's Research Hospital, Memphis, TN; Nilsa C. Ramirez, MD, Institute for Genomic Medicine and Biopathology Center, Nationwide Children's Hospital, Departments of Pathology and Pediatrics, Ohio State University, Columbus, OH; Wanda Salzer, MD, Uniformed Services University, School of Medicine, Bethesda, MD; Cheryl Willman, MD, Department of Laboratory Medicine and Pathology and Mayo Clinic Comprehensive Cancer Center, Mayo Clinic, Rochester, MN; Naomi Winick, MD, Department of Pediatric Hematology Oncology and Simmons Cancer Center, University of Texas Southwestern Medical Center, Dallas, TX; Brent Wood, MD, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA; Stephen P. Hunger, MD, Department of Pediatrics and the Center for Childhood Cancer Research, Children's Hospital of Philadelphia, and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Gang Wu, PhD, Center for Applied Bioinformatics, St Jude Children's Research Hospital, Memphis, TN, Department of Pathology, St Jude Children's Research Hospital, Memphis, TN; Charles G. Mullighan, MBBS, MD, Department of Pathology, St Jude Children's Research Hospital, Memphis, TN; and Mignon L. Loh, MD, Department of Pediatrics and the Ben Towne Center for Childhood Cancer Research, Seattle Children's Hospital, University of Washington, Seattle, WA.

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Deep learning-based cortical surface reconstruction (CSR) methods heavily rely on pseudo ground truth (pGT) generated by conventional CSR pipelines as supervision, leading to dataset-specific challenges and lengthy training data preparation. We propose a new approach for reconstructing multiple cortical surfaces using from brain MRI ribbon segmentations. Our approach initializes a midthickness surface and then deforms it inward and outward to form the inner (white matter) and outer (pial) cortical surfaces, respectively, by jointly learning diffeomorphic flows to align the surfaces with the boundaries of the cortical ribbon segmentation maps.

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Cornelia de Lange syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder. Pathogenic variants in genes encoding the structural subunits and regulatory proteins of the cohesin complex (, , , , and ) are the primary contributors to the pathogenesis of CdLS. Pathogenic variations in these genes disrupt normal cohesin function, leading to the syndrome's diverse and complex clinical presentation.

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Chest and spinal disease in patients with progressive neuromuscular disease.

Paediatr Respir Rev

October 2024

Division of Pulmonology, Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, United States.

The chest and spine deformity in neuromuscular disease (NMDz) can impact respiratory mechanics and pulmonary function by changing the orientation of the muscles and joints of the respiratory system and placing them in a mechanically unfavorable position. This increases mechanical load on weak respiratory muscles and eventually can cause respiratory failure. Therefore, chest and spine deformity in NMDz will both lead to increased respiratory "load" and decreased respiratory muscle "pump", an exceptionally bad combination.

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Our group has developed an extra-uterine environment for newborn development (EXTEND) using an ovine model, that aims to mimic the womb to improve short and long-term health outcomes associated with prematurity. This study's objective was to determine the histologic and transcriptomic consequences of EXTEND on the brain. Histology and RNA-sequencing was conducted on brain tissue from three cohorts of lambs: control pre-term (106-107 days), control late pre-term (127 days), and EXTEND lambs who were born pre-term and supported on EXTEND until late pre-term age (125-128 days).

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When a baby is born premature, a landscape of potential problems replaces an imagined future. Outcomes become the measures of success. Researchers are recognizing that we need the direct input of parents to select meaningful outcomes.

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Article Synopsis
  • Invasive aspergillosis (IA) and mucormycosis (IM) significantly affect severely ill patients, prompting the approval of isavuconazonium sulfate for treating these fungal infections in both adults and recently in children.
  • A phase 2 study involved 31 pediatric patients across multiple countries, revealing a 54.8% overall response rate to treatment and a low 6.5% all-cause case fatality at 42 days.
  • Although 93.5% of participants experienced treatment-emergent adverse events (TEAEs), the drug was generally well tolerated, and dosing conformed to safety standards previously established in adult studies.
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Lessons learned from 20 years of preclinical testing in pediatric cancers.

Pharmacol Ther

December 2024

RTI International, Research Triangle Park, NC, United States of America.

Programs for preclinical testing of targeted cancer agents in murine models of childhood cancers have been supported by the National Cancer Institute (NCI) since 2004. These programs were established to work collaboratively with industry partners to address the paucity of targeted agents for pediatric cancers compared with the large number of agents developed and approved for malignancies primarily affecting adults. The distinctive biology of pediatric cancers and the relatively small numbers of pediatric cancer patients are major challenges for pediatric oncology drug development.

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Article Synopsis
  • - The white paper highlights seven key challenges in radiology, including issues like declining reimbursement and labor shortages, which are critical for the profession’s future sustainability.
  • - It emphasizes the impact of corporatization, imaging appropriateness, and burnout on radiologists, alongside the ongoing conflicts with nonphysicians and the need for improved workflow efficiency.
  • - The Intersociety Summer Conference-2023 gathered experts to discuss these challenges and brainstorm potential solutions to ensure the viability of the radiology field moving forward.
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The pediatric subspecialty workforce is challenged by shortages and geographic maldistribution of subspecialists. We invited leaders in pediatrics to discuss how the field's vitality and survival can be secured. These leaders presented their own opinions and not the opinion of the society or organization that they are presenting.

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Developmental epileptic encephalopathy with spike-wave activation in sleep (DEE-SWAS) is an epilepsy syndrome of childhood characterized by developmental delay or regression with significant abnormal epileptiform activity during sleep. In some cases, DEE-SWAS with an identified focal lesion is treated with surgical resection. The authors report an unusual case of focal DEE-SWAS that was successfully treated via transorbital resection with intraoperative electrocorticography (iECoG).

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ICU Staffing and Organization: Everything Has Changed.

Chest

October 2024

Department of Medicine, Palliative and Advanced Illness Research (PAIR Center), Pulmonary, Allergy and Critical Care Division, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA. Electronic address:

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Article Synopsis
  • - The study investigates children with congenital hyperinsulinism (HI) who do not respond to diazoxide and lack detectable mutations in their blood, focusing on potential hidden genetic changes in pancreatic tissue.
  • - Through next-generation sequencing on pancreatic specimens from 10 children, four unique GCK mutations were found at low levels, indicating that these mutations may be responsible for their HI, despite not being detectable in their blood samples.
  • - The findings suggest that post-zygotic somatic mutations in the GCK gene contribute to certain cases of non-focal diazoxide-unresponsive hyperinsulinism, shedding light on the complexity of genetic causes in this condition.
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Comparison of human pluripotent stem cell differentiation protocols to generate neuroblastoma tumors.

Sci Rep

October 2024

Cancer and Blood Disease Institutes, Children's Hospital Los Angeles, The Saban Research Institute, 4650 Sunset Blvd #57, Los Angeles, CA, 90027, USA.

Article Synopsis
  • Neuroblastoma is the most common solid tumor in children and originates from trunk neural crest cells and sympathoadrenal cells.
  • Researchers compared four different protocols for differentiating human pluripotent stem cells (PSC) into sympathoadrenal cells, analyzing their effectiveness in producing the right cell types and tumor markers.
  • They discovered a specific protocol that consistently produces adrenergic neuroblastoma cells, showing high levels of the critical tumor marker PHOX2B, while also noting that not all protocols successfully generated the desired cell types.
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Article Synopsis
  • Septal reduction therapy (SRT) significantly improves symptoms for patients with obstructive hypertrophic cardiomyopathy (HCM), but its long-term results and predictors of adverse outcomes still need more study.* -
  • An analysis of data from the SHARE registry revealed that among 1,832 patients who underwent SRT, the 30-day mortality rate was low at 0.4%, and after approximately 6.8 years, rates for HCM-related death, heart failure, and ventricular arrhythmias were relatively low.* -
  • Key findings included that older age at SRT increases risks for HCM death and heart failure outcomes, while female patients showed higher susceptibility to heart failure complications post-treatment.*
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Nature and Magnitude of Industry Payments to Fellowship Program Directors in Orthopaedic Surgery.

J Am Acad Orthop Surg

September 2024

From the Medical University of South Carolina, Charleston, SC (Silvestre), the Washington University School of Medicine, St Louis, MO (Tippabhatla and Hosseinzadeh), the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA (Kelly), and the Brigham and Women's Hospital, Boston, MA (Kang).

Introduction: Previous research has highlighted conflicts of interest stemming from industry funding and education of orthopaedic surgeons. This study sought to define the nature and magnitude of industry payments to orthopaedic surgery fellowship program directors (FPDs) in the United States.

Methods: This was a retrospective cohort study of orthopaedic surgery FPDs during 2021.

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A Human Touch: Hominid-Specific LRRC37B Regulates Axon Initial Segment Excitability.

Epilepsy Curr

May 2024

Division of Neurology, Department of Pediatrics, Epilepsy NeuroGenetics Initiative, The Children's Hospital of Philadelphia Department of Neurology, Department of Neuroscience, The Perelman School of Medicine at The University of Pennsylvania.

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Context: The adverse skeletal effects of type 1 diabetes (T1D) include deficient bone accrual and lifelong increased fracture risk. The contributors to impaired bone accrual in people with T1D are incompletely understood.

Objective: To determine if urinary calcium excretion is associated with impaired bone accrual in youth with T1D and to characterize the contribution of glycemic control and markers of bone mineral metabolism to urinary calcium excretion.

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No Pain, No Gain of Function: Epilepsy-Associated Variants in SCN2A Defy Classification.

Epilepsy Curr

January 2024

Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia Epilepsy NeuroGenetics Initiative, The Children's Hospital of Philadelphia Department of Neurology, The Perelman School of Medicine at The University of Pennsylvania Department of Neuroscience, The Perelman School of Medicine at The University of Pennsylvania.

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Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools.

HGG Adv

October 2024

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

Haploinsufficiency of JAG1 is the primary cause of Alagille syndrome (ALGS), a rare, multisystem disorder. The identification of JAG1 intronic variants outside of the canonical splice region as well as missense variants, both of which lead to uncertain associations with disease, confuses diagnostics. Strategies to determine whether these variants affect splicing include the study of patient RNA or minigene constructs, which are not always available or can be laborious to design, as well as the utilization of computational splice prediction tools.

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Purpose: Increasing concern that brainstem toxicity incidence after proton radiation therapy might be higher than with photons led to a 2014 University of Florida (UF) landmark paper identifying its risk factors and proposing more conservative dose constraints. We evaluated how practice patterns changed among the Pediatric Proton/Photon Consortium Registry (PPCR).

Material And Methods: This prospective multicenter cohort study gathered data from patients under the age of 22 years enrolled on the PPCR, treated between 2002 and 2019 for primary posterior fossa brain tumors.

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Genomic Determinants of Outcome in Acute Lymphoblastic Leukemia.

J Clin Oncol

October 2024

Department of Pediatrics and the Ben Towne Center for Childhood Cancer Research, Seattle Children's Hospital, University of Washington, Seattle, WA.

Article Synopsis
  • Despite high cure rates for childhood acute lymphoblastic leukemia (ALL), it remains a major cause of cancer-related deaths in children, especially among those initially classified as standard-risk (SR).
  • Researchers analyzed genomic data from over 1,300 children with ALL to identify factors influencing relapse, focusing on comparing patients who relapsed against those who stayed in remission for five years.
  • Findings indicated that specific genomic subtypes and chromosomal alterations significantly affect relapse risk, highlighting the need for detailed genetic analysis to improve risk assessment and treatment strategies in childhood ALL.
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