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Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia.
Data Brief
February 2025
Department of Child Health, Faculty of Medicine, Dr. Cipto Mangunkusumo Hospital, University of Indonesia, Jakarta 10430, Indonesia.
Glycogen storage disease type IV (GSD IV) is a rare disease caused by a defect in glycogen branching enzyme 1 (GBE1), which played a crucial role in glycogen branching. GSD IV occurs once in approximately 1 in every 760,000 to 960,000 live births and is inherited in an autosomal recessive pattern. Early diagnosis of GSD IV is challenging due to non-specific symptoms, such as liver and spleen enlargement, which can overlap with other hematologic and hepatobiliary disorders.
View Article and Find Full Text PDFOlfactory Dysfunction in Children and Adolescents-A Diagnostic Pathway.
Neuropediatrics
January 2025
Department of Pediatrics, Pediatric Neurology, Neurometabolics and Prevention, Goethe University Frankfurt, Frankfurt, Germany.
Olfactory disorders have so far played a subordinate role in pediatric care, although children can also be affected. Due to a lack of awareness, the diagnosis can often only be made after numerous visits to the doctor, although it can significantly impact the quality of life. Olfactory disorders in adults are usually acquired, while congenital causes dominate in children.
View Article and Find Full Text PDFNavigating vaccine confidence: A mixed methods study investigating healthcare providers' perspectives across four non-EU European regions.
Vaccine
January 2025
Universiteit Antwerpen, Antwerp, Belgium; London School of Hygiene & Tropical Medicine, London, UK. Electronic address:
Background: Vaccine confidence remains a global public health challenge, especially highlighted during the COVID-19 pandemic. Public trust in vaccines is crucial, with healthcare providers (HCPs) playing a pivotal role in navigating this sensitive topic. This requires an understanding of HCPs' perceptions of vaccines.
View Article and Find Full Text PDFThis article examines responses from Lutheran pastors, theologians, and physicians to the arguments given by Johann Weyer in 1563 that those women who confessed to a pact with the devil suffered from melancholy and were thus not responsible for their acts. Weyer's conception of melancholy was a medical one, yet among Lutheran pastors and theologians the concept of a spiritual form of melancholy emerged that came from religious sources. The article clarifies the difference between the concepts of medical and spiritual melancholy within Lutheranism and reviews the respective roles they played in the debates over Weyer's arguments.
View Article and Find Full Text PDFEarly Prediction of Cardio Vascular Disease (CVD) from Diabetic Retinopathy using improvised deep Belief Network (I-DBN) with Optimum feature selection technique.
BMC Cardiovasc Disord
January 2025
Department of Computer Science and Engineering, SRM Institute of Science and Technology, Vadapalani Campus, Chennai, India.
Cardio Vascular Disease (CVD) is one of the leading causes of mortality and it is estimated that 1 in 4 deaths happens due to it. The disease prevalence rate becomes higher since there is an inadequate system/model for predicting CVD at an earliest. Diabetic Retinopathy (DR) is a kind of eye disease was associated with increasing risk factors for all-causes of CVD events.
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