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Clinical, laboratory, and molecular characteristics of patients with spondyloenchondrodysplasia: a case series study.
Eur J Pediatr
January 2025
Pediatric Hematology and Oncology, Liv Hospital, Gaziantep, Turkey.
Unlabelled: Spondyloenchondrodysplasia (SPENCD) is a rare genetic disorder characterized with skeletal dysplasia, immune dysregulation, and neurological impairment. Patients diagnosed with SPENCD at a single pediatric hematology center were included in the study. The patients' clinical characteristics, symptoms at presentation, imaging and laboratory results, and genetic analysis results were collected retrospectively from their files.
View Article and Find Full Text PDFCurrent update on the neurological manifestations of long COVID: more questions than answers.
EXCLI J
November 2024
Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, "Attikon" University Hospital, Athens, Greece.
Since the outbreak of the COVID-19 pandemic, there has been a global surge in patients presenting with prolonged or late-onset debilitating sequelae of SARS-CoV-2 infection, colloquially termed long COVID. This narrative review provides an updated synthesis of the latest evidence on the neurological manifestations of long COVID, discussing its clinical phenotypes, underlying pathophysiology, while also presenting the current state of diagnostic and therapeutic approaches. Approximately one-third of COVID-19 survivors experience prolonged neurological sequelae that persist for at least 12-months post-infection, adversely affecting patients' quality of life.
View Article and Find Full Text PDFBridging animal models and humans: neuroimaging as intermediate phenotypes linking genetic or stress factors to anhedonia.
BMC Med
January 2025
Early Intervention Unit, Department of Psychiatry, Affiliated Nanjing Brain Hospital, Nanjing Medical University, 264 Guangzhou Street, Nanjing, China.
Background: Intermediate phenotypes, such as characteristic neuroimaging patterns, offer unique insights into the genetic and stress-related underpinnings of neuropsychiatric disorders like depression. This study aimed to identify neuroimaging intermediate phenotypes associated with depression, bridging etiological factors to behavioral manifestations and connecting insights from animal models to diverse clinical populations.
Methods: We analyzed datasets from both rodents and humans.
Recurrent nodular episcleritis as a manifestation of long COVID.
BMJ Case Rep
January 2025
University Hospitals Coventry and Warwickshire NHS Trust, Coventry, Coventry, UK
A woman in her 50s presented with redness, eye pain, watering and photophobia of the left eye starting 1 week after she tested positive for COVID-19. She was diagnosed with left eye episcleritis and started on topical steroids. As the steroids were being gradually tapered, she developed a recurrence.
View Article and Find Full Text PDFCompromised B-cell homeostasis: Unraveling the link between major depression, infection and autoimmune disorders.
J Affect Disord
January 2025
Department of Neurology, Affiliated Hospital of Yangzhou University, Yangzhou University, Yangzhou, Jiangsu, China. Electronic address:
Background: Major depression can increase susceptibility to viral infections and autoimmune diseases. B cell responses are crucial for immune defense against infections but can trigger autoimmunity when deregulated. However, it remains unclear whether compromised B-cell homeostasis in major depression contributes to an increased risk of infection and autoimmunity.
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