Despite many decades of research involving both human subjects and model systems, the underlying pathophysiology of long-term complications in classic galactosemia (CG) remains poorly understood. In this review, intended for those already familiar with galactosemia, we focus on the big questions relating to outcomes, mechanism, and markers, drawing on relevant literature where available, attempting to navigate inconsistencies where they appear, and acknowledging gaps in knowledge where they persist.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ymgme.2022.07.005 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Long-Term Time in Target Range for Systolic Blood Pressure Since Childhood and Midlife Arterial Stiffness.
JACC Asia
January 2025
Department of Cardiovascular Medicine, First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
Background: Elevated blood pressure (BP) in childhood is associated with adult hypertension and arterial stiffness. However, the effect of long-term time in target range (TTR) for BP since childhood on the risk of arterial stiffness in midlife remains unclear.
Objectives: The purpose of this study was to determine the independent association of TTR for systolic blood pressure (SBP) from childhood to midlife with arterial stiffness in adulthood.
What is the pathophysiology of inflammation-induced cortical injury in the perinatal brain?
Neural Regen Res
January 2025
The Ritchie Centre, Hudson Institute of Medical Research, Melbourne, VIC, Australia.
Perinatal exposure to infection/inflammation is highly associated with neural injury, and subsequent impaired cortical growth, disturbances in neuronal connectivity, and impaired neurodevelopment. However, our understanding of the pathophysiological substrate underpinning these changes in brain structure and function is limited. The objective of this review is to summarize the growing evidence from animal trials and human cohort studies that suggest exposure to infection/ inflammation during the perinatal period promotes regional impairments in neuronal maturation and function, including loss of high-frequency electroencephalographic activity, and reduced growth and arborization of cortical dendrites and dendritic spines resulting in reduced cortical volume.
View Article and Find Full Text PDFThe effects of contralateral limb cross-education training on post-surgical rehabilitation outcomes in patients with anterior cruciate ligament reconstruction: a randomized controlled trial.
J Orthop Surg Res
January 2025
1Department of Special Education and Rehabilitation, Binzhou Medical University, Yantai City, Shandong Province, China.
Objective: This study examines whether cross-education training of the healthy limb promotes cross-transfer through central nervous system stimulation, enhancing the function, kinematic parameters, dynamic balance, and plantar pressure of the affected knee joint in patients recovering from postoperative anterior cruciate ligament reconstruction (ACLR).
Methods: Forty anterior cruciate ligament reconstruction (ACLR) patients, 5-6 weeks postoperatively, were included and randomly assigned to either an experimental group (n = 20) or a control group (n = 20). The experimental group participated in six weeks of cross-education (CE) training in addition to conventional rehabilitation, while the control group received only conventional rehabilitation.
Longitudinal association between hemoglobin and lung function with insights into the incidence of airflow obstruction: an observational study.
BMC Pulm Med
January 2025
Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Background/aims: Evidence regarding the long-term association between hemoglobin (Hb) levels and lung function in individuals from the general population is scarce. This study aimed to determine the longitudinal association between Hb levels and lung function in a community-based population cohort in South Korea.
Methods: We used linear mixed regression analysis to evaluate the longitudinal associations between Hb levels and lung function parameters, including forced vital capacity (FVC), forced expiratory volume in 1 s (FEV), and FEV/FVC.
Unexpected identification of peak systolic velocity in the radial artery as a risk factor for functional primary patency of radiocephalic fistulas.
Nefrologia (Engl Ed)
January 2025
Department of Ultrasound, The Second Hospital of Dalian Medical University, Dalian City, Liaoning Province, China. Electronic address:
Objective: As radiocephalic fistula is not necessarily appropriate for all patients with advanced kidney disease, our aim was to investigate the sensitive indicators that affect the functional primary patency of radiocephalic fistulas.
Methods: This prospective observational study included consecutive patients referred to the Second Hospital of Dalian Medical University for initial creation of radiocephalic fistula from July 2017 to December 2019. Preoperative ultrasound parameters, demographic characteristics, serum indicators and comorbidities were recorded.
Want 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!