17 research outputs found

    A CRISPR screen identifies a pathway required for paraquat-induced cell death

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    Paraquat, a herbicide linked to Parkinson's disease, generates reactive oxygen species (ROS), which causes cell death. Because the source of paraquat-induced ROS production remains unknown, we conducted a CRISPR-based positive-selection screen to identify metabolic genes essential for paraquat-induced cell death. Our screen uncovered three genes, POR (cytochrome P450 oxidoreductase), ATP7A (copper transporter), and SLC45A4 (sucrose transporter), required for paraquat-induced cell death. Furthermore, our results revealed POR as the source of paraquat-induced ROS production. Thus, our study highlights the use of functional genomic screens for uncovering redox biology

    Dental treatment of a child with congenital central hypoventilation syndrome

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    Background: Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition combining respiratory hypoventilation with symptoms of autonomic dysregulation. Management of patients requires both medical and dental expertise to achieve a successful outcome. The aim of this paper is to present the dental management of a child diagnosed with CCHS, without pharmacological measures and in cooperation with medical expertise. Case report: A 7-year-old girl was referred to a private dental practice with the chief complaints being pain and poor aesthetics. The child had been diagnosed with CCHS since infancy and had undergone several courses of medication. Although the patient was uncooperative, the paediatric pulmonologist advised against general anaesthesia. As a result, she was treated in the operating theater (OT) without sedatives, being monitored throughout the entire procedure. A total of eight primary teeth needed dental treatment (3 were restored, 4 were extracted and 1 was restored with a preformed metal crown). A mandibular lingual holding arch was placed, two weeks later. Follow-up: The patient was seen after 6 months and 1 year. Her oral hygiene had improved significantly and her mother reported that the child ate better, brushed her teeth on a daily basis and was careful with dietary habits. Conclusion: The collaboration between medical experts and a paediatric dentist was of crucial importance. The use of basic behaviour management techniques in conjunction with monitoring the patient’s vital signs led to a successful outcome and an improvement in the behaviour of the patient
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