Results 61 to 70 of about 1,156,853 (299)

Survival Outcomes and Complications Among Canadian Children With Retinoblastoma: A Population‐Based Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Retinoblastoma (RB) is the most common pediatric ocular cancer, yet population‐based data on survival and risk factors remain limited. This study aimed to describe survival in a large national RB cohort and identify predictors of death and complications.
Samuel Sassine, Ofélie Trudeau‐Ferrin, Caroline Laverdière, Patrick Hamel, Rosanne Superstein, Bénédicte Koukoui, Carole Provost, Paul C. Nathan, Vijay Ramaswamy, Furqan Shaikh, Brenda Gallie, Ashwin Mallipatna, Stephanie Kletke, Helen Dimaras, Hallie Coltin   +14 more
wiley   +1 more source

De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder

, 2019
POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a neurodevelopmental disorder.
Au, C., Baker, S., Bergstrom, K., Bodek, S., Brunner, H., Cunniff, C., Dentici, M., Derizioti, P., Faivre, L., Firth, H., Fisher, S., Gilissen, C., Iglesias, A., Izumi, K., Kleefstra, T., Kroes, H., Lachmeijer, A., Leonard, J., Maas, S., Matsumoto, N., Miyake, N., Niceta, M., Okamoto, N., Pfundt, R., Philippe, C., Powis, Z., Shinde, D., Snijders Blok, L., Tang, S., Tartaglia, M., Tayoun, A., Tomkins, S., Van Gassen, K., Venselaar, H., Vitobello, A., Wiel, L., Wojcik, M., Õunap, K.   +37 more
core   +1 more source

Personalized Selumetinib Dosing in Pediatric Neurofibromatosis Type 1: Insights From a Pilot Therapeutic Drug Monitoring Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács, Zoltán Köllő, Balázs Gellért Karvaly, Mahmoud Obeidat, Rita Nagy, Péter Hegyi, Brigitta Teutsch, Eszter Tuboly, Miklós Garami   +8 more
wiley   +1 more source

Clinical and laboratory features of SARS-CoV-2 variants across multiple rounds of pandemic waves in hospitalized children in an Iranian referral hospital

BMC Pediatrics, 2023
Background Since the onset of the COVID-19 pandemic, SARS-CoV-2 has evolved into independent new forms, variants of concern (VOCs). While epidemiological data showed increased transmissibility of VOCs, their impact on clinical outcomes is less clear ...
Shima Mahmoudi, Babak Pourakbari, Sepideh Benvari, Reihaneh Hosseinpour Sadeghi, Mohammad Reza Abdolsalehi, Mohammad Ali Shahbabaie, Fatemeh Jalali, Fatemeh Safari, Amene Navaeian, Setareh Mamishi   +9 more
doaj   +1 more source

Antibiotic resistance evolved via inactivation of a ribosomal RNA methylating enzyme. [PDF]

, 2016
Modifications of the bacterial ribosome regulate the function of the ribosome and modulate its susceptibility to antibiotics. By modifying a highly conserved adenosine A2503 in 23S rRNA, methylating enzyme Cfr confers resistance to a range of ribosome ...
Fujimori, Danica Galonić, Noda-Garcia, Lianet, Stojković, Vanja, Tawfik, Dan S   +3 more
core  

Global increases in both common and rare copy number load associated with autism. [PDF]

, 2013
Children with autism have an elevated frequency of large, rare copy number variants (CNVs). However, the global load of deletions or duplications, per se, and their size, location and relationship to clinical manifestations of autism have not been ...
Baker, Carl, Balciuniene, Jorune, Eichler, Evan E, Fox, Keolu, Girirajan, Santhosh, Hansen, Robin, Hertz-Picciotto, Irva, Johnson, Rebecca L, Katiyar, Neerja, Khoo, Su Jen, Nauth, Therese B, Pessah, Isaac N, Ritchie, Marylyn, Selleck, Scott B, Srikanth, Abhinaya, Tassone, Flora, Yeoh, Kian Hui   +16 more
core   +2 more sources

Adherence to Protocol Recommendations for Children With Wilms Tumour in Two Consecutive Studies in the United Kingdom and Ireland—Does Variation Matter?

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background and Aims Wilms tumour (WT) has excellent event‐free and overall survival (OS). However, small differences exist between countries participating in the same international study. This led us to examine variation in adherence to protocol recommendations as a potential contributing factor.
Suzanne Tugnait, R. Al‐Saadi, A. Lopez‐Cortes, K. Dzhuma, M. Oostveen, J. Brok, S. Irtan, M. Weeks, J. Bate, S. Baker, R. Williams, M. Powis, D. Saunders, O. Olsen, T. Watson, S. Shelmerdine, S. Vaidya, L. Howell, C. Duncan, G. M. Vujanic, C. Stiller, G. P. Balchin, T. Chowdhury, K. Pritchard‐Jones   +23 more
wiley   +1 more source

EEG-clinical research advances on benign electroencephalographic variants in temporal lobe

Chinese Journal of Contemporary Neurology and Neurosurgery, 2022
Because of the convenience, noninvasion and repeatability, the scalp EEG has been widely used in the diagnosis, treatment and evaluation of prognosis in epilepsy and other encephalopathy.
SUN Tai⁃xin, James X. Tao, WANG Qun
doaj   +1 more source

Sirolimus for Extracranial Arteriovenous Malformations: A Scoping Review of the Evidence in Syndromic and Non‐Syndromic Cases

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Arteriovenous malformations (AVMs) are rare, high‐flow, vascular anomalies that can occur either sporadically or as part of a genetic syndrome. AVMs can progress with serious morbidity and even mortality if left unchecked. Sirolimus is an mTOR inhibitor that is effective in low‐flow vascular malformations; however, its role in AVMs is unclear.
Will Swansson, Ingrid Winship, Gary Hammerschlag, Laura Scardamaglia   +3 more
wiley   +1 more source

Osteosarcoma in One of Identical Twins: Three Cases Report and a Literature Review

Orthopaedic Surgery, 2021
Background Osteosarcoma (OS) is the most common primary malignant bone tumor occurring mainly in children and young adults. OS is usually seen in sporadic cases, and it is an extremely rare phenomenon in blood relatives, particularly among identical ...
Jie Zhao, Wei Wang, Zhiyong Liu, Xiao Li, Qiqing Cai, Xiuchun Yu   +5 more
doaj   +1 more source