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| http://dx.doi.org/10.1016/j.xjtc.2023.09.024 | DOI Listing |
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Loss-of-function SLC25A20 mutation causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability.
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Department of Medical Genetics/Experimental Education/Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, China; Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou 510515, China; Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou 510280, China. Electronic address:
Background/aim: Autosomal-recessive carnitine-acylcarnitine translocase deficiency (CACTD) is a rare disorder of long-chain fatty acid oxidation caused by variants in the SLC25A20 gene. Under fasting conditions, most newborns with severe CACTD experience sudden cardiac arrest and hypotonia, often leading to premature death due to rapid disease progression. Understanding of genetic factors and pathogenic mechanisms in CACTD is essential for its diagnosis, treatment, and prevention.
View Article and Find Full Text PDFDo bilateral deficits in hop for distance performance occur concomitantly with bilateral movement differences in people with patellofemoral pain? A cross-sectional investigation with between-group and -limb comparisons.
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Department of Exercise and Rehabilitation Sciences, College of Health and Human Services, University of Toledo, Toledo, OH, USA; Department of Health and Human Performance, Congdon School of Health Sciences, High Point University, High Point, NC, USA. Electronic address:
Background: People with patellofemoral pain (PFP) may have bilateral deficits in hop for distance test (SLHD) performance, whereas the worsening performance of the pain-free or less painful limbs suggests that bilateral movement differences may occur. While clinicians may not be aware of bilateral movement differences that may be employed during the clinical assessment of SLHD performance (e.g.
View Article and Find Full Text PDFA study on the correlation between MRI-assessed breast volume asymmetry and patient satisfaction after immediate breast reconstruction in breast cancer patients.
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Department of Radiology, Yan'an Hospital of Kunming City (Yan'an Hospital Affiliated to Kunming Medical University; Yunnan Cardiovascular Hospital), Kunming, China.
Immediate breast reconstruction provides breast cancer patients with a valuable opportunity to restore breast shape. However, post-reconstruction breast asymmetry remains a common issue that affects patient satisfaction. This study aims to quantify breast asymmetry after surgery using magnetic resonance imaging (MRI) and assess its impact on both breast satisfaction and overall outcome satisfaction, offering scientific evidence to guide improvements in preoperative evaluation.
View Article and Find Full Text PDFAssessment of ovarian reserve function in patients with adenomyosis and ovarian endometriosis by three-dimensional transvaginal ultrasound and Anti-Müllerian hormone.
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Department of Ultrasonography, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
We evaluated the impact of adenomyosis and ovarian endometriosis on ovarian reserve function through transvaginal three-dimensional ultrasound and anti-mullerian hormone testing. A total of 150 female patients who were admitted to our hospital from January 2023 to May 2024 were selected; 58 cases had adenomyosis (adenomyosis group), 36 had ovarian endometriosis (ovarian endometriosis group), and 56 were healthy (healthy group). There were no statistically significant differences in clinical baseline data among the three groups (all P > 0.
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Key Laboratory of Advanced Manufacturing Technology, Ministry of Education, Guizhou University, Guiyang, 550025, Guizhou, China.
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