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Causes and consequences of DNA double-stranded breaks in cardiovascular disease.
Mol Cell Biochem
October 2024
Center for Cardiovascular Genetic Studies, Institute of Molecular Medicine, The University of Texas Health Science Center, 6770 Bertner Street, Suite C900A, Houston, TX, 77030, USA.
Article Synopsis
- The genome is constantly exposed to both internal and external factors that can cause DNA damage, with an estimated 10 to 10 lesions occurring in mammalian cells daily, necessitating a balance between damage and repair to maintain stability.
- During transcription, DNA strands unwind to allow RNA polymerase II to synthesize RNA, which creates supercoils that topoisomerases resolve by introducing double-stranded breaks (DSBs), making DSBs a normal part of gene expression despite their risks.
- When transcription is impeded by damaged DNA or proteins, it leads to transcription stress, resulting in the risk of aberrant RNA, accumulation of DSBs, and activation of DNA damage response pathways that may trigger senescence and inflammation,
Non-Surgical Strategies for Managing Skeletal Deformities in a Child with X-Linked Hereditary Hypophosphatemic Ricket: Insights and Perspectives.
Children (Basel)
April 2024
Department of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan.
This case report sheds light on the management of skeletal deformity in a young child with X-linked hypophosphatemia (XLH), emphasizing the significance of a timely orthotic intervention alongside pharmacological treatment, which is a strategy not frequently highlighted in the XLH literature. The patient, a 2-year-and-7-month-old female, presented with classic XLH symptoms, including short stature, pronounced genu varum, and hypophosphatemia, with deformities observed in both the coronal and sagittal planes of the femur and tibia. Despite initial reliance on pharmacotherapy, which proved insufficient for skeletal realignment, the integration of orthotic treatment at age 3 marked a pivotal turn in the management strategy.
View Article and Find Full Text PDF[Diagnostics and treatment of hourglass-like nerve constrictions and torsions in neuralgic amyotrophy].
Nervenarzt
December 2023
Klinik für Neurologie und klinische Neurophysiologie, Universitätsklinikum Augsburg, Stenglinstr. 2, 86156, Augsburg, Deutschland.
Neuralgic amyotrophy is a disease of the peripheral nervous system characterized by severe neuropathic pain followed by peripheral paralysis. A distinction is made between a hereditary and an idiopathic form, which is assumed to have an autoimmunological origin. Conservative medicinal treatment mainly consists of nonsteroidal anti-inflammatory drugs (NSAID), opioids and glucocorticoids; however, despite treatment, symptoms in the form of pain or paralysis persist in over 50% of cases.
View Article and Find Full Text PDFEndoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA.
J Pers Med
March 2023
Department of Otorhinolaryngology-Head and Neck Surgery, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Mucopolysaccharidosis (MPS) is a hereditary disorder arising from lysosomal enzymes deficiency, with glycosaminoglycans (GAGs) storage in connective tissues and bones, which may compromise the airway. This retrospective study evaluated patients with MPS type IVA with airway obstruction detected via endoscopy and imaging modalities and the effects of surgical interventions based on symptoms. The data of 15 MPS type IVA patients (10 males, 5 females, mean age 17.
View Article and Find Full Text PDFBasal Ganglia Atrophy as a Marker for Prodromal X-Linked Dystonia-Parkinsonism.
Ann Neurol
May 2023
Department of Neurology, University Medical Center Schleswig-Holstein, Lübeck, Germany.
Article Synopsis
- * The study used advanced MRI techniques to observe brain atrophy and iron accumulation in individuals who carry the genetic mutation but haven't developed symptoms yet, revealing ~10% atrophy in these carriers and ~40% in symptomatic patients.
- * Findings suggest that structural brain changes can be detected years before clinical symptoms, indicating the potential for using imaging to identify early neurodegeneration and monitor progression in unaffected mutation carriers.
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