Advances in the field of genetics and genomics have had a great impact on the clinical practice of the pediatric nephrologist. Access to diagnostic genetic studies for renal pathologies allows not only to confirm specific diagnoses, but also to provide management and follow-up strategies, knowledge about prognosis, and prevention of complications. In addition, it provides genetic counseling to the patient and family and even helps to make decisions about family donor transplantation. The objective of this review is to cover basic knowledge of genetics, available technologies for genetic diagnosis, the main groups of renal diseases that benefit from these studies, and the importance of their approach in medical clinical practice. Also, it highlights the transcendental role of collaborative action between pediatric nephrologists and clinical geneticists in a multidisciplinary team that leads to an adequate diagnostic approach in patients and supports a quality clinical practice.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.32641/andespediatr.v94i4.4498 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Application of suture-stretching technique in repairing skin defect of lower limb.
J Orthop Surg Res
January 2025
Guizhou Medical University, Beijing Jishuitan Hospital Guizhou Hospital, Guiyang, Guizhou, People's Republic of China.
Background: Wound repair methods are commonly used in clinical practice, such as skin graft and flap repair, which can cause secondary injuries, and high costs. Many methods for skin stretching and repair have been reported domestically and internationally. However, their clinical use is limited owing to lack of equipment, complexity, and high costs.
View Article and Find Full Text PDFImpact of worklist selection on point-of-care ultrasound workflow - a quality improvement project.
BMC Health Serv Res
January 2025
Department of Emergency Medicine, University of California, Irvine, Orange, CA, 92868, USA.
Background: Research demonstrates that Point-of-care ultrasound (POCUS) improves clinical outcomes for patients. Improving clinician satisfaction with POCUS should promote utilization into everyday practice, leading to improved clinical outcomes. Despite this benefit, there are still barriers to use including POCUS workflow.
View Article and Find Full Text PDFF-Prostate-Specific Membrane Antigen PET/CT imaging for potentially resectable pancreatic cancer (PANSCAN-2): a phase I/II study.
Cancer Imaging
January 2025
Department of Surgery, Amsterdam UMC Location Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, the Netherlands.
Background: Current diagnostic imaging modalities have limited ability to differentiate between malignant and benign pancreaticobiliary disease, and lack accuracy in detecting lymph node metastases. F-Prostate-Specific Membrane Antigen (PSMA) PET/CT is an imaging modality used for staging of prostate cancer, but has incidentally also identified PSMA-avid pancreatic lesions, histologically characterized as pancreatic ductal adenocarcinoma (PDAC). This phase I/II study aimed to assess the feasibility of F-PSMA PET/CT to detect PDAC.
View Article and Find Full Text PDFHow Delphi studies in the health sciences find consensus: a scoping review.
Syst Rev
January 2025
Department of Research Methods in Health Promotion and Prevention, Institute for Health Sciences, University of Education Schwäbisch Gmünd, Oberbettringer Straße 200, Schwäbisch Gmünd, 73525, Germany.
Background: Delphi studies are primarily used in the health sciences to find consensus. They inform clinical practice and influence structures, processes, and framework conditions of healthcare. The practical research-how Delphi studies are conducted-has seldom been discussed methodologically or documented systematically.
View Article and Find Full Text PDFEating disorders in minority ethnic populations in Australia, Canada, Aotearoa New Zealand and the UK: a scoping review.
J Eat Disord
January 2025
Warwick Medical School, University of Warwick, Coventry, CV47AL, UK.
Background: Historically, eating disorder (ED) research has largely focused on White girls and women, with minority ethnic populations underrepresented. Most research exploring EDs in minority ethnic populations has been conducted in the United States (US). The aim of this scoping review, the first of its kind, was to systematically examine research on disordered eating and EDs among minority ethnic populations in Australia, Canada, Aotearoa New Zealand and the United Kingdom (UK), four countries with shared sociocultural and healthcare characteristics.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!