Results 41 to 50 of about 278,057 (291)

Factor VII deficiency-related recurrent hemarthrosis in a female child – When to suspect?

Iraqi Journal of Hematology, 2021
Recurrent hemarthrosis is a common entity in children. Although recurrent hemarthrosis most often associated with hemophilia (VIII or IX deficiency), but rarely it can be associated with factor VII deficiency (FVIID).
Siyaram Didel, Abhishek H. L. Purohit, Deepthi Krishna, Varuna Vyas, Kuldeep Singh   +4 more
doaj   +1 more source

Progression of myopathology in Kearns-Sayre syndrome [PDF]

, 1992
We report on the progression of myopathology by comparing two biopsies from a patient with a Kearns-Sayre-Syndrome. The first biopsy was taken in 1979 and showed 10% ragged-red fibers.
B. Meurers, CT Moraes, H Reichmann, Heinz Reichmann, I Nonaka, JA Morgan-Hughes, M. Naumann, P. Seibel, R. Gold, T. Klopstock, U. Walter, V Dubowitz   +11 more
core   +1 more source

Phenotypic and genotypic analysis of patients with congenital factor VII deficiency in a multicenter study in Thailand

Pediatric Hematology Oncology Journal, 2022
Objective: The phenotypic and genotypic analysis of patients with congenital factor VII deficiency were retrospectively conducted. Methods: The study included 26 patients defined as severe (n = 25) and moderate (n = 1) degree by FVII  T (38.3%), followed
Ampaiwan Chuansumrit, Surapan Parapakpenjune, Rungrote Natesirinilkul, Patcharee Komvilaisak, Werasak Sasanakul, Nongnuch Sirachainan, Anchalee Aramthienthamrong, Chorthip Wattanasutthipong, Kittima Kanchanakumhan, Kunrada Inthawong, Montana Chantaraniyom, Naonpan Pongpaothai, Nattaporntira Phalakornkul, Nisakorn Khumchan, Pacharapan Surapolchai, Panjarat Sowittayasakul, Somporn Wangruangsathit   +16 more
doaj   +1 more source

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

Transcriptional repressor ZEB2 promotes terminal differentiation of CD8⁺ effector and memory T cell populations during infection [PDF]

, 2015
ZEB2 is a multi-zinc-finger transcription factor known to play a significant role in early neurogenesis and in epithelial-mesenchymal transition-dependent tumor metastasis.
Agata Stryjewska, Alexander Weidemann, Ananda W. Goldrath, Best, Bingfei Yu, Brabletz, Cannarile, Christiane Zweier, Conidi, Danny Huylebroeck, Engel, Eve Seuntjens, Garavelli, Gattinoni, Goldrath, Goossens, Goossens, Grégoire, Gründemann, Hand, Haring, Harney, Harney, Harty, Higashi, Higashi, Hikono, Hikono, Hisato Kondoh, J. Adam Best, Jessica V. Nguyen, Jody Haigh, Joshi, Kaech, Kaech, Kaech, Kaech, Kallies, Knell, Kyla D. Omilusik, Larabee, Lin, Luca Gattinoni, Lynne M. Bird, Massari, Masson, Mowat, Murre, Olson, Postigo, Postigo, Rahul Roychoudhuri, Remacle, Rice, Rubinstein, Sarkar, Sawada, Sekido, Seuntjens, Steven Goossens, Takemoto, Van de Putte, van den Berghe, van Grunsven, Verschueren, Verstappen, Voehringer, Williams, Wirth, Yang, Yasui, Yujiro Higashi, Zweier   +72 more
core   +3 more sources

Preferences of Pediatric Patients and Their Caregivers for Chemotherapy‐Induced Nausea and Vomiting Control Endpoints: A Mixed Methods Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Although not always achieved, complete chemotherapy‐induced nausea and vomiting (CINV) control is the conventional goal of CINV prophylaxis. In this two‐center, mixed‐methods study, we sought to understand the preferences of adolescent patients and family caregivers for CINV control endpoints.
Haley Newman, Tadi Hondonga, Alison Berry, Caitlin Elgarten, Jason Freedman, Katelyn Oranges, Sara McDonough, Caroline Diorio, L. Lee Dupuis   +8 more
wiley   +1 more source

Takayasu Arteritis Presenting as Renovascular Hypertension and Renal Failure in a Patient with Factor VII Deficiency

Eurasian Journal of Medicine, 2019
A 23-year-old female patient with factor VII (FVII) deficiency was admitted with severe hypertension and renal failure. Brachial arterial pressures were 230/120 and 220/115 mm/Hg on the right and left arms, respectively.
Sercin Ozkok, Ahmet Aslan, Yildiz Gulseren, Gonul Kutlu Aciksari, Mehmet Ali Agirbasli   +4 more
doaj   +1 more source

Evaluation of Clinical Features, Laboratory Findings and Treatment of Patients with Rare Factor Deficiency: A Retrospective Single Center Experience

Çocuk Dergisi, 2023
Objective: Patients with a rare factor deficiency (RFD) may be asymptomatic or present with life-threatening bleeding. Studies have shown no direct relationship between factor activity level and bleeding severity, with difficulties being experienced in ...
Işık Odaman Al, Tuba Hilkay Karapınar, Salih Gözmen, Yeşim Oymak   +3 more
doaj   +1 more source

From variome to phenome : pathogenesis, diagnosis and management of ectopic mineralization disorders [PDF]

, 2015
Ectopic mineralization - inappropriate biomineralization in soft tissues - is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality.
De Vilder, eva, Vanakker, Olivier
core   +2 more sources

Outcomes of Live Virus Vaccination in Patients With Vascular Anomalies Being Treated With Sirolimus

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Live vaccination in patients with vascular anomalies (VA) receiving sirolimus remains controversial due to immunosuppressive effects and theoretical risks. Procedure This single‐center retrospective study included patients with VA less than 4 years old at the start of sirolimus therapy who were incompletely vaccinated.
Svatava Merkle, Kiersten Ricci, Kelly Blache, Rebecca A. Marsh, Adrienne M. Hammill, Elissa Engel   +5 more
wiley   +1 more source