Inherited deficiency of the RNA lariat-debranching enzyme 1 (DBR1) is a rare etiology of brainstem viral encephalitis. The cellular basis of disease and the range of viral predisposition are unclear. We report inherited DBR1 deficiency in a 14-year-old boy who suffered from isolated SARS-CoV-2 brainstem encephalitis. The patient is homozygous for a...
Ewing sarcoma (ES) is an uncommon mesenchymal neoplasm that typically develops as a bone mass, although up to 30% arise in extraskeletal sites. ES of the gastrointestinal (GI) and hepatobiliary tract is rare and may be misdiagnosed as other, more common neoplasms that occur in these sites. However, the correct classification of extraskeletal ES is ...
The association between body mass index (BMI) and binge-eating disorder (BED) is well-established. However, data on the extent to which BMI is associated with progression from binge-eating behavior into BED among adolescents are limited, which was the aim of this investigation. Participants were 9964 U.S. adolescents from the Adolescent Brain Cogni...
Published in BMC psychology
Today, addressing issues related to the use of virtual space is of paramount importance due to its significant impact on mental well-being. This is especially crucial when the research community consists of teenagers who are cyber bullies or their victims who have higher vulnerability. The aim of the present study was to investigate the mediating r...
Published in The Journal of adolescent health : official publication of the Society for Adolescent Medicine
Transgender adolescents and adolescents with eating disorders (EDs) are known to have increased mental health comorbidity; however, little is understood about how gender dysphoria (GD), disordered eating and mental health disorders relate to each other. The purpose of this study was to examine associations between GD, ED, and mental health diagnose...
Hereditary C1q deficiency (C1QDef) is a rare monogenic disorder leading to defective complement pathway activation and systemic lupus erythematosus (SLE)-like manifestations. The link between impairment of the complement cascade and autoimmunity remains incompletely understood. Here, we assessed type 1 interferon pathway activation in patients with...
BACKGROUND: Paliperidone palmitate is one of the most widely prescribed long-acting injectable (LAI) antipsychotics in the UK. However, it is relatively expensive and there are few data comparing its effectiveness to that of other LAI antipsychotics. We sought to address this issue by analyzing a large anonymized electronic health record (EHR) data...
BACKGROUND: Electronic health records (EHRs) are widely used in mental health services. Case registers using EHRs from secondary mental healthcare have the potential to deliver large-scale projects evaluating mental health outcomes in real-world clinical populations. METHODS: We describe the Camden and Islington NHS Foundation Trust (C&I) Research ...
Facilitated subcutaneous immunoglobulin (fSCIG) 10% is an immunoglobulin replacement therapy that utilizes recombinant human hyaluronidase (rHuPH20) to enhance immunoglobulin dispersion and absorption, allowing for longer treatment intervals similar to intravenous immunoglobulin (up to once monthly). fSCIG 10% is indicated in the USA for treating a...
Peer reviewed: True / People with autism spectrum conditions (ASC) have difficulties imagining events, which might result from difficulty mentally generating and maintaining a coherent spatial scene. This study compared this scene construction ability between autistic (N = 55) and neurotypical (N = 63) adults. Results showed that scene construction...
