Results 131 to 140 of about 546,706 (238)
Cancer Science, EarlyView.ABSTRACT Quizartinib is a FMS‐like tyrosine kinase 3 (FLT3) inhibitor indicated for FLT3 internal tandem duplication (FLT3‐ITD)–positive acute myeloid leukemia (AML). We aimed to evaluate quizartinib resistance mechanisms, in addition to efficacy and safety outcomes, in patients with relapsed or refractory FLT3‐ITD–positive AML.
Yuichiro Semba +21 more
wiley +1 more source
Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory
Clinical Genetics, EarlyView.Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco +14 more
wiley +1 more source
Inborn errors of immunity in children with neuroinflammation
Developmental Medicine &Child Neurology, EarlyView.Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu +5 more
wiley +1 more source
Neurodevelopmental and neurological features in children with hypochondroplasia
Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To assess neurodevelopmental and neurological features, including neuroimaging abnormalities, in children with molecularly confirmed hypochondroplasia. Method A retrospective cohort study of children with molecularly confirmed hypochondroplasia seen at Evelina London Children's Hospital skeletal dysplasia service was performed.
Megan F. Baxter +3 more
wiley +1 more source
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 +15 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 +14 more
wiley +1 more source
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 +28 more
wiley +1 more source
Speculation in the United Kingdom, 1785‒2019
The Economic History Review, EarlyView.Abstract Speculation has long been thought to have significant economic effects, but it is difficult to measure, making it challenging to examine these effects empirically. In this paper we measure speculation in the United Kingdom since 1785 by using business and financial reporting in The Times newspaper.
William Quinn +2 more
wiley +1 more source
From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort. [PDF]
Hum GenetSzalai R +5 more
europepmc +1 more source