Results 241 to 250 of about 3,605,025 (319)
Seeking Shelter From Brexit: Ireland and the United States
ABSTRACT This article explores the factors that account for the US foreign policy position on Brexit and situates that discussion in a ‘seeking shelter’ context. Through a specific focus on how Ireland approached the challenge of Brexit, it determines the logic for pursuing US shelter and identifies the conditions which facilitated the cultivation of ...
Mary C. Murphy
wiley +1 more source
Acute Neurological Events in Children With Hemoglobin SC Disease: A Multicenter Retrospective Study
ABSTRACT Introduction Neurological manifestations in children with hemoglobin SC (HbSC) disease remain insufficiently characterized, particularly regarding acute events. The aim of this study was to describe the spectrum and frequency of acute neurological events in a multicenter cohort of children with HbSC disease.
Célia Paulmin +11 more
wiley +1 more source
ABSTRACT Background Embryonal tumors comprise the majority of malignant central nervous system (CNS) neoplasms diagnosed in children under 3 years of age. Compared with their counterparts in older children, these tumors exhibit distinct molecular biology and a more aggressive clinical phenotype, while their management is complicated by the heightened ...
Sudarshawn Damodharan +3 more
wiley +1 more source
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
ABSTRACT Nasopharyngeal carcinoma can mimic juvenile nasopharyngeal angiofibroma in adolescent males on both demographics and imaging; bilateral cavernous sinus involvement and sensorineural hearing loss are atypical for juvenile nasopharyngeal angiofibroma (JNA) and should prompt expedited tissue diagnosis even in settings where biopsy of a presumed ...
Dennis Brempong +3 more
wiley +1 more source
ABSTRACT Aminoacyl‐tRNA synthetases (ARSs) facilitate the loading of transfer RNAs with their cognate amino acids in the cytosol (ARS1), mitochondria (ARS2), or both (dual ARS). ARS deficiencies are clinically heterogeneous and can cause severe, occasionally fatal disease.
I. J. J. Muffels +21 more
wiley +1 more source
Alder–Reilly Anomaly Leading to Incidental Diagnosis of MPS VII in an Asymptomatic Adult
ABSTRACT Mucopolysaccharidosis type VII (MPS VII; Sly syndrome) is a rare autosomal recessive lysosomal storage disorder caused by deficiency of β‐glucuronidase due to pathogenic variants in the GUSB gene. Impaired degradation of glycosaminoglycans (GAGs) results in multiorgan dysfunction with highly variable clinical presentation, ranging from severe ...
Margaretha G. M. Roemer +5 more
wiley +1 more source
Hearing Preservation Rates After Cochlear Implantation Using Soft Surgery Techniques
ABSTRACT Objectives To determine if hearing preservation rates after cochlear implantation varied over time with soft surgery techniques. Methods The hearing preservation rate over time in adult cochlear implant patients over 10 years was analyzed. The association between hearing preservation rate and sex, age, perioperative steroid dose, and type of ...
Tina C. Huang, Scott Lunos
wiley +1 more source

