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Enhancing Mobility: Surgical Deformity Correction and Rehabilitation in Emery-Dreifuss Muscular Dystrophy Type 2.
Cureus
November 2024
Physical Medicine and Rehabilitation, St. John's National Academy of Health Sciences, Bengaluru, IND.
Emery-Dreifuss Muscular Dystrophy (EDMD) is a rare genetic disorder characterized by muscle weakness, joint contractures, and cardiac dysfunction. Within this spectrum, EDMD Type 2, attributed to a heterozygous missense variant in exon 9 of the LMNA gene, presents a distinctive clinical profile. This case report details the presentation and management of a teenage girl displaying neck, trunk, upper and lower limb weakness, Achilles tendon contracture, and lordosis.
View Article and Find Full Text PDFWhite Matter Imaging Phenotypes Mediate the Negative Causality of Mitochondrial DNA Copy Number on Sleep Apnea: A Bidirectional Mendelian Randomization Study and Mediation Analysis.
Nat Sci Sleep
December 2024
Department of Orthodontics, School and Hospital of Stomatology, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, People's Republic of China.
Purpose: Sleep apnea (SA), associated with absent neural output, is characterised by recurrent episodes of hypoxemia and repeated arousals during sleep, resulting in decreased sleep quality and various health complications. Mitochondrial DNA copy number (mtDNA-CN), an easily accessible biomarker in blood, reflects mitochondrial function. However, the causal relationship between mtDNA-CN and SA remains unclear.
View Article and Find Full Text PDFTuning the Selectivity in the Nonoxidative Alkane Dehydrogenation Reaction by Potassium-Promoted Zeolite-Encapsulated Pt Catalysts.
JACS Au
December 2024
Department of Chemistry and Engineering Research Center of Advanced Rare-Earth Materials of Ministry of Education, Tsinghua University, Beijing 100084, P. R. China.
The significance of the nonoxidative dehydrogenation of middle-chain alkanes into corresponding alkenes is increasing in the context of the world's declining demands on transportation fuels and the growing demand for chemicals and materials. The middle-chain alkenes derived from the dehydrogenation reaction can be transformed into value-added chemicals in downstream processes. Due to the presence of multiple potential reaction sites, the reaction mechanism of the dehydrogenation of middle-chain alkanes is more complicated than that in the dehydrogenation of light alkanes, and there are few prior studies on elucidating their detailed structure-reactivity relationship.
View Article and Find Full Text PDFThe New Paradigm of Ligand Substitution-Driven Enhancement of Anisotropy from SO Units in Short-Wavelength Region.
ACS Cent Sci
December 2024
Research Center for Crystal Materials, State Key Laboratory of Functional Materials and Devices for Special Environmental Conditions, Xinjiang Key Laboratory of Functional Crystal Materials, Xinjiang Technical Institute of Physics and Chemistry, CAS, 40-1 South Beijing Road, Urumqi 830011, China.
For non-π-conjugated [SO] units, it is challenging to generate sufficient birefringence, owing to the high symmetry of the regular tetrahedron. Unlike the traditional trial-and-error approach, we propose a new paradigm for birefringence engineering to tune the optical properties based on [SO] units. Through the strategy of ligand substitution, we can predict its effect on the band gap and anisotropy.
View Article and Find Full Text PDFEndocrine Care of a 19-year-old Woman With Isolated Hypogonadotropic Hypogonadism due to 4H Syndrome.
AACE Clin Case Rep
August 2024
Department of Endocrinology, Endocrine ParaThyroid Center, Norman, Oklahoma.
Background/objective: 4H syndrome is a rare form of leukodystrophy characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. In 95% of cases, hypomyelination is present, but other clinical features, such as hypodontia and hypogonadotropic hypogonadism, are not always present and may not be necessary for diagnosis. Hypogonadotropic hypogonadism is the most common endocrine complication that can occur in 4H syndrome.
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