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Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.
Genet Med
December 2024
Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:
Objectives: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modelling the natural history, and uncovering genotype-phenotype associations.
Methods: A cross-sectional analysis of 90 published and one novel case was performed, employing a Human Phenotype Ontology-based approach.
[Diabetic retinopathy and pregnancy].
Vestn Oftalmol
December 2024
Khabarovsk branch of S.N. Fedorov National Medical Research Center "MNTK "Eye Microsurgery", Khabarovsk, Russia.
This article reviews the critical issue of diabetic retinopathy (DR) in pregnant women with diabetes mellitus (DM), and describes the current understanding of the features of DM progression during pregnancy, as well as its pathogenic mechanisms, risk factors, and preventive measures for manifestation and progression of DR during gestation.
View Article and Find Full Text PDFTEFM facilitates uterine corpus endometrial carcinoma progression by activating ROS-NFκB pathway.
J Transl Med
December 2024
Department of Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, 450052, China.
Background: Mitochondrial transcription elongation factor (TEFM) is a recently discovered factor involved in mitochondrial DNA replication and transcription. Previous studies have reported that abnormal TEFM expression can disrupt the assembly of mitochondrial respiratory chain and thus mitochondrial function. However, the role of TEFM on Uterine corpus endometrial carcinoma (UCEC) progression remains unclear.
View Article and Find Full Text PDFThe interplay of factors in metabolic syndrome: understanding its roots and complexity.
Mol Med
December 2024
Center for Cancer Immunology, Institute of Biomedicine and Biotechnology, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen, 518055, China.
Metabolic syndrome (MetS) is an indicator and diverse endocrine syndrome that combines different metabolic defects with clinical, physiological, biochemical, and metabolic factors. Obesity, visceral adiposity and abdominal obesity, dyslipidemia, insulin resistance (IR), elevated blood pressure, endothelial dysfunction, and acute or chronic inflammation are the risk factors associated with MetS. Abdominal obesity, a hallmark of MetS, highlights dysfunctional fat tissue and increased risk for cardiovascular disease and diabetes.
View Article and Find Full Text PDFTest, track, treat using wearable sensors for management of Parkinson's disease: 12‑month prospective observational United Arab Emirates study using Parkinson's Kinetograph (EmPark-PKG Study).
J Neural Transm (Vienna)
December 2024
Department of Basic and Clinical Neuroscience, The Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 5 Cutcombe Road, London, SE5 9RX, UK.
Parkinson's disease (PD) is a progressive neurodegenerative disorder marked by both motor and non-motor symptoms that necessitate ongoing clinical evaluation and medication adjustments. Home-based wearable sensor monitoring offers a detailed and continuous record of patient symptoms, potentially enhancing disease management. The EmPark-PKG study aims to evaluate the effectiveness of the Parkinson's KinetoGraph (PKG), a wearable sensor device, in monitoring and tracking the progression of motor symptoms over 12 months in Emirati and non-Emirati PD patients.
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