Results 51 to 60 of about 1,336,426 (267)

A rare presentation of a rare disease [PDF]

Journal of Clinical Pathology, 2003
A 29 year old woman presented to the gynaecology services with a history of cervical smear cytology and punch biopsy showing human papillomavirus related changes, associated with moderate dyskaryosis. She had undergone laser loop excision biopsy of the transformation zone (LLETZ) two years before for previous abnormal smears.
Y Steppeler, H Shaikh
openaire   +1 more source

Clinical, Histopathological, and Molecular Characterization of Pediatric MN1::ZNF341‐Associated Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT A lethal round‐cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from their main mimics, neuroblastoma and
Thomas R. W. Oliver, Dyanne Rampling, Barbara Walkowiak, Nathaniel D. Anderson, Manas Dave, Henry Lee‐Six, Sadie Baskind, Pooja Balasubramanian, Glenn Anderson, Conor Parks, Toochi Ogbonnah, Emilia R. Robertson, Simon Hannam, Rohan Verma, John C. Achermann, Liina Palm, Neil Sebire, Thomas Jacques, Tom Watson, Carryl Dryden, Karin Straathof, Mette Jorgensen, Olga Slater, Sam Behjati, Sarita Depani, J. Ciaran Hutchinson   +25 more
wiley   +1 more source

Solid Pseudopapillary Neoplasm of the Pancreas in Children and Adolescents: Expert Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Solid pseudopapillary neoplasm of the pancreas (SPN) is a rare low‐grade malignant exocrine pancreatic tumor, mostly discovered during the second decade of life in females, with a very good prognosis, provided microscopically complete surgical excision is achieved.
Sabine Irtan, Michael Abele, Calogero Virgone, Michaela Kuhlen, Ricardo Lopez‐Almarez, Tal Ben‐Ami, Ewa Bien, Maja Cesen, Malgorzata A. Krawczyk, Andrea Ferrari, Gianni Bisogno, Yves Reguerre, Dominik T. Schneider, Louise Galmiche, Jorg Fuchs, Sarah Braungart, Bilgehan Yalcin, Ines B. Brecht, Daniel Orbach   +18 more
wiley   +1 more source

Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023)

罕见病研究
Bartter syndrome (BS) is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis, and normal or low blood pressure.
Chinese Society of Rare Diseases, Rare Diseases Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Bartter Syndrome Consensus Working Group   +4 more
doaj   +1 more source

Increased circulating progranulin is not sufficient to induce cardiac dysfunction or supraventricular arrhythmia

Scientific Reports, 2023
Atrial fibrillation (AF) is the most prevalent cardiac arrhythmia, and the incidence of new-onset AF has been increasing over the past two decades. Several factors contribute to the risk of developing AF including age, preexisting cardiovascular disease,
Kevin E. McElhanon, Tyler C. Huff, Dinesh Hirenallur-Shanthappa, Russell A. Miller, Nicolas Christoforou   +4 more
doaj   +1 more source

Admixture Mapping Reveals Candidate Regions for Methotrexate Neurotoxicity Susceptibility: A Reducing Disparities in Acute Leukemia Consortium Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Neurotoxicity is a rare, often dose‐limiting adverse effect of methotrexate (MTX) therapy that disproportionally affects Latino children. Factors contributing to the observed disparity are not well understood. This study leveraged admixture mapping to identify genetic regions associated with MTX‐related neurotoxicity susceptibility ...
Rachel D. Harris, Priya B. Shetty, Olga A. Taylor, Elizabeth G. Atkinson, Melissa A. Richard, M. Monica Gramatges, Mark Zobeck, Sandi Pruitt, Amy Hughes, M. Brooke Bernhardt, Ashley Chavana, Van Huynh, Kathleen Ludwig, Laura Klesse, Kenneth Heym, Timothy Griffin, Rodrigo Erana, Juan Carlos Bernini, Han Chen, Bing Yu, Philip J. Lupo, Karen R. Rabin, Michael E. Scheurer, Austin L. Brown, The REDIAL Consortium   +24 more
wiley   +1 more source

PLASMIC score to aid diagnosis of aHUS: an analysis of C5 inhibitor clinical trials and the PINC AI™ healthcare database

BMC Nephrology
Background Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) that can lead to end organ damage and death without treatment.
Miguel G. Uriol-Rivera, Frank R. Ernst, John N. Booth, Àngels Comas, Christoph Gasteyger, Ioannis Tomazos, Ching Lum, Yan Wang, Ana I. Ávila   +8 more
doaj   +1 more source

Inpatient Exposure, Confidence, and Knowledge in Pediatric Hematology/Oncology: Evaluating General Pediatric Residents During 2025 ACGME Curriculum Change

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background General pediatricians often evaluate hematologic and oncologic presentations before subspecialty consultation, yet the 2025 Accreditation Council for Graduate Medical Education (ACGME) pediatric requirements reduce inpatient pediatric hematology/oncology (PHO) time, raising questions about resident readiness.
Colburn Yu, Rohini Jain
wiley   +1 more source

Population PK–PD Modeling of Danicopan Add‐On Therapy in Participants With Paroxysmal Nocturnal Hemoglobinuria Treated With Ravulizumab or Eculizumab

CPT: Pharmacometrics & Systems Pharmacology
Danicopan is a first‐in‐class orally administered complement factor D inhibitor, approved as an add‐on therapy to ravulizumab or eculizumab for the treatment of clinically significant extravascular hemolysis in patients with paroxysmal nocturnal ...
Jun Chen, Feng Yang, Hanbin Li, Rajendra Pradhan, Stephan Ortiz   +4 more
doaj   +1 more source

Sociodemographic Factors Associated With Later Stage at Diagnosis of Pediatric Germ Cell Tumors: A Report From Children's Oncology Group Registries ACCRN07 and APEC14B1

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Germ cell tumors (GCTs) often arise in the ovaries and testes (extracranial) but can also develop in the brain (intracranial). We examined the relationship of individual, family, and community‐level socioeconomic status (SES) with stage of disease at diagnosis in a cohort of pediatric patients with GCT from Children's Oncology Group
Heydon K. Kaddas, Judy Y. Ou, Todd Alonzo, Logan G. Spector, Negar Fallahazad, Emily Owens, Anne C. Kirchhoff, Adam L. Green   +7 more
wiley   +1 more source