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[Clinical characteristics and genetic analysis of maturity-onset diabetes of the young type 2 diagnosed in childhood].
Zhongguo Dang Dai Er Ke Za Zhi
January 2025
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology/Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan 430030, China.
Objectives: To study the clinical manifestations and genetic characteristics of children with maturity-onset diabetes of the young type 2 (MODY2), aiming to enhance the recognition of MODY2 in clinical practice.
Methods: A retrospective analysis was conducted on the clinical data of 13 children diagnosed with MODY2 at the Department of Pediatrics of Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology from August 2017 to July 2023.
Results: All 13 MODY2 children had a positive family history of diabetes and were found to have mild fasting hyperglycemia [(6.
Caregiver alignment with triage acuity levels and drivers for discrepancy between caregiver assessment and triage acuity levels: a cross-sectional questionnaire based study.
BMC Health Serv Res
January 2025
Department of Paediatrics, Children's National Hospital, Washington DC, USA.
Background: Caregiver concern is the main driver to paediatric emergency departments visits. Understanding caregiver worries is crucial to guide patients to the most appropriate healthcare setting. Previous research shows mixed findings on the accordance between caregiver assessment and professional triage.
View Article and Find Full Text PDFSafety Analysis of Visual Percutaneous Tracheostomy in Neurocritical Care Patients with Anticoagulation and Antithrombosis.
Neurocrit Care
January 2025
Neurological Intensive Care Unit, Tai'an Central Hospital Affiliated to Qingdao University, Tai'an, 271000, Shandong, China.
Background: This study aims to evaluate the safety of visual percutaneous tracheostomy (vPDT) in neurologic intensive care unit (NICU) patients who are under anticoagulant and antithrombotic therapy.
Methods: A retrospective cohort study was conducted on 54 NICU patients who underwent vPDT at Tai'an Central Hospital from September 2022 to September 2023. The cohort included 36 men and 18 women aged 36-90 years (mean age 62.
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Nat Med
January 2025
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.
View Article and Find Full Text PDFClinical and laboratory characteristics of solitary rectal ulcer syndrome: a retrospective analysis of 36 case.
Sci Rep
January 2025
Faculty of Medicine, Department of Gastroenterology, Giresun University, Giresun, Turkey.
The primary objective of this study was to evaluate the clinical, laboratory, and histological characteristics of solitary rectal ulcer syndrome (SRUS) and assess the outcomes associated with various management strategies. This retrospective observational study was conducted at Giresun Education and Research Hospital. This study included patients diagnosed with SRUS between January 2020 and January 2024.
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