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A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.
Orphanet J Rare Dis
December 2024
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Meier-Gorlin syndrome (MGORS) is a rare autosomal inherited form of primordial dwarfism. Pathogenic variants in 13 genes involved in DNA replication initiation have been identified in this disease, but homozygous intronic variants have never been reported. Additionally, whether growth hormone (GH) treatment can increase the height of children with MGORS is unclear.
View Article and Find Full Text PDFDiagnosis, treatment, and management of Mpox in urban Informal Settlements in Southwestern Nigeria: an ethnographic approach.
BMC Public Health
January 2025
Health & Nutrition Cluster, Institute of Development Studies, University of Sussex, Brighton, UK.
Background: Global re-emergence of the zoonotic viral disease, Mpox (Monkeypox) has drawn global attention, leading to its declaration as a Public Health Emergency of International Concern (PHEIC) by World Health Organisation (WHO) in July 2022. Nigeria is a spotlight identified for the viral disease outbreak, with attention drawn on its transmission to non-endemic nations. With the country's healthcare challenges, care seeking practices particularly amongst low-income urban informal settlement populations are diverse - presenting challenges to both case identification and management during an outbreak.
View Article and Find Full Text PDFNeonatal meconium aspiration syndrome associated with ABCA3 gene mutation and mycoplasma infection: a case report.
BMC Pediatr
January 2025
Department of Pediatrics II (Neonatology), Medical University of Innsbruck, Innsbruck, Austria.
Preterm infants are at high risk of developing respiratory distress syndrome (RDS). Mutations in the genes encoding for surfactant proteins B and C or the ATP-binding cassette transporter A3 (ABCA3) are rare but known to be associated with severe RDS and interstitial lung diseases. The exact prevalence of these mutations in the general population is difficult to determine, as they are usually studied in connection with clinical symptoms.
View Article and Find Full Text PDFMachine-learning-based cost prediction models for inpatients with mental disorders in China.
BMC Psychiatry
January 2025
Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Background: Mental disorders are increasingly prevalent, leading to increased medical expenditures. To refine the reimbursement of medical costs for inpatients with mental disorders by health insurance, an accurate prediction model is essential. Per-diem payment is a common internationally implemented payment method for medical insurance of inpatients with mental disorders, necessitating the exploration of advanced machine learning methods for predicting the average daily hospitalization costs (ADHC) based on the characteristics of inpatients with mental disorders.
View Article and Find Full Text PDFThe impact of radiographic examination timing and gag reflex on dental fear and cooperation in children: a comparative clinical study.
Eur Arch Paediatr Dent
January 2025
Department of Paediatric Dentistry, School of Dentistry, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Purpose: Identifying factors that disrupt cooperation during radiographic examination, such as dental fear and the gag reflex, is crucial for achieving optimal radiographic outcomes. The aim of the present study is to evaluate the levels of dental fear and cooperation amongst children aged 4-9 years undergoing intraoral radiographic examination at different stages of dental treatment. It also investigates the impact of the gag reflex on children's behaviour during intraoral radiographic examination.
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