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Around one-quarter of all patients undergoing cardiac procedures, particularly those on cardiopulmonary bypass, develop cardiac surgery-associated acute kidney injury (CSA-AKI). This complication increases the risk of several serious morbidities and of mortality, representing a significant burden for both patients and the healthcare system. Patients with diminished kidney function before surgery, such as those with chronic kidney disease, are at heightened risk of developing CSA-AKI and have poorer outcomes than patients without preexisting kidney injury who develop CSA-AKI.

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Recombinant human growth hormone (rhGH) injections combined with Anastrozole are increasingly used to treat adolescent idiopathic short stature (ISS), warranting further research. This study evaluated their effects on height, growth rate and adverse reactions in 72 adolescents with ISS treated at our hospital from December 2021 to December 2022. Patients were divided into a control group (rhGH alone) and a study group (rhGH + Anastrozole).

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Clinician perspectives on designing and implementing a hereditary cancer transition clinic.

Hered Cancer Clin Pract

January 2025

Department of Population Health Sciences, Geisinger, Danville, PA, 17822, USA.

Article Synopsis
  • Early identification of hereditary cancer predisposition in adolescents and young adults is crucial for targeted cancer prevention and improving survival rates, but this age group faces unique healthcare transition challenges.
  • The study aimed to gather expert insights on creating a transition clinic for this demographic, using qualitative methods inspired by human-centered design and implementation science.
  • Key findings emphasized the importance of relationship building, care coordination, education, effective communication among providers, and establishing a sustainable clinic model to enhance program implementation.
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Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines.

Orphanet J Rare Dis

January 2025

Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, No. 3333 Binsheng Road, Binjiang District, Hangzhou, 310053, Zhejiang, China.

Purpose: To enhance the detection rate of Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) through newborn screening (NBS), we analyzed the metabolic profiles of missed patients and proposed a more reliable method for early diagnosis.

Methods: In this retrospective study, NICCD patients were classified into "Newborn Screening" (64 individuals) and "Missed Screening" (52 individuals) groups. Metabolic profiles were analyzed using the non-derivatized MS/MS Kit, and genetic mutations were identified via next-generation sequencing and confirmed by Sanger sequencing.

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Diagnosis and treatment of pediatric arterial stenosis associated with neurofibromatosis type 1.

BMC Pediatr

January 2025

Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No.56, Nanlishi Road, Beijing, 100045, China.

Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting multiple systems. However, arterial stenosis is a rare manifestation in patients with NF1. Since the symptoms of arterial stenosis caused by NF1 are often atypical and have a high under-diagnosis rate, this can lead to serious complications such as hypertension, ischemic stroke, or even death.

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