Results 151 to 160 of about 19,292 (214)

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

<i>Arisaema cum</i> Bile Mitigate Febrile Seizure in Rats via Inhibition of Neuroinflammation, Regulation of FXR and GABA Signaling Pathway. [PDF]

J Inflamm Res
Wu X, Zhong L, Wang J, Zhang Q, Sun J, Wang C, Zhang M, Zhao C.   +7 more
europepmc   +1 more source

Brentuximab vedotin‐containing regimen time toxicity for front‐line therapy of advanced‐stage classical Hodgkin lymphoma in young adults and adults: Real‐life comparison between condensed BrECADD versus traditional Bv + AVD

British Journal of Haematology, EarlyView.
Marco Picardi, Annamaria Vincenzi, Fabrizio Pane   +2 more
wiley   +1 more source

Early tocilizumab and outcomes in acute necrotizing encephalopathy

Developmental Medicine &Child Neurology, EarlyView.
Early tocilizumab and outcome in acute necrotising encephalopathy. Aim To evaluate the timing and safety of tocilizumab in acute necrotizing encephalopathy (ANE). Method This was a multicentre retrospective study evaluating outcomes (modified Rankin Scale [mRS]) in children with ANE treated with tocilizumab. A logistic regression model determined a cut‐
Velda X Han, Prithuja Poudyal, Vanessa Lee, Arushi Gahlot Saini, Shekeeb S Mohammad, Sekhar C Pillai, Gouri Rao Passi, Naveen Sankhyan, Ahmad Rithauddin Mohamed, Lokesh Lingappa, Hiroshi Sakuma, Russell C Dale, Ming Lim, Terrence Thomas, for The International ANE Study Group   +14 more
wiley   +1 more source

Raphe and ventrolateral medulla proteomics in sudden unexplained death in childhood with febrile seizure history. [PDF]

Acta Neuropathol
Leitner DF, William C, Faustin A, Kanshin E, Snuderl M, McGuone D, Wisniewski T, Ueberheide B, Gould L, Devinsky O.   +9 more
europepmc   +1 more source

Foraminal subependymal nodules and subependymal giant cell astrocytoma in children with tuberous sclerosis

Developmental Medicine &Child Neurology, EarlyView.
We studied 128 TSC referred to our tertiary centre between 2012 and 2024, with at least one brain imaging before 18 years, before neurosurgical or mTOR inhibitor treatment, and at least one fSEN. Median age at first and last imaging was 3 years 2 months and 12 years. Longitudinal fSEN evolution with age identified three growth patterns: non‐growing (71%
Sofia Ferri, Sara Cabet, Nicole Chemaly, Jacques Laschet, Thomas Blauwblomme, Nathalie Boddaert, Rima Nabbout   +6 more
wiley   +1 more source

Simple febrile seizure et causa bronchopneumonia with complex congenital heart disease. [PDF]

Glob Cardiol Sci Pract
Adji AS, Angel SCS, Adiwinoto RP, Suwito BE, Puspitasari A.   +4 more
europepmc   +1 more source

RCC1 neuropathy mimics childhood axonal Guillain–Barré syndrome with variable clinical severity and survival

Developmental Medicine &Child Neurology, EarlyView.
We present 10 patients who presented with acute onset axonal neuropathy following infection, mimicking childhood axonal Guillain–Barré syndrome. We review phenotypes, undertake survival analysis, and assess function of novel RCC1 variants in vitro. Abstract Aim To assess the phenotype and genotype of 10 new patients with biallelic RCC1 variants who ...
Han Zhang, Beril Din, John H. McDermott, RCC1 Neuropathy Study Group, Adam Jackson, Halil Tuna Akar, Ali Dursun, Riza Koksal‐Ozgul, Reza Sadjadi, Lauren Politica, Stephan Zuchner, Reza Maroofian, Usman Ali, Dudu Turkyilmaz, Jawadur Rahman, Hasan Bas, Khalid Hussain, Khalid A Fakhro, Aljazi Al‐Maraghi, Annemarie CS Knijnenburg, Monique Engel, Debby Hellebrekers, Heike Losch, Sietse M Aukema, Marlene Kullik, Christoph Geier, Raymond T. O'Keefe, William G. Newman, J. Robert Harkness   +28 more
wiley   +1 more source

The Role of TRPV1 in Febrile Seizure Susceptibility: Inflammation, Respiratory Alkalosis, and Seizure Threshold. [PDF]

Am J Respir Cell Mol Biol
Ackermann BW, Merkenschlager A.
europepmc   +1 more source

Economic Burden of Chronic Lymphocytic Leukaemia in Australia

European Journal of Haematology, EarlyView.
ABSTRACT Background The treatment landscape for chronic lymphocytic leukaemia (CLL) has transformed over the past decade. This study aimed to estimate the healthcare costs and health burden associated with CLL in Australia. Methods A Markov model was developed to simulate the lifetime healthcare costs and health outcomes associated with CLL in ...
Lan Gao, Dieu Nguyen, Victoria White, Patricia M. Livingston, Chan Y. Cheah   +4 more
wiley   +1 more source