Neurocutaneous disorders, also known as phakomatoses, are congenital and acquired syndromes resulting in simultaneous neurologic and cutaneous involvement. In several of these conditions, the genetic phenomenon is understood, providing a pivotal role in the development of therapeutic options. This review encompasses the discussion of the genetic and clinical involvement of neurocutaneous disorders, and examines clinical management and treatment options. With the current advances in genetics, the role of precision medicine and targeted therapy play a substantial role in addressing the management of these conditions. The interconnectedness between therapeutic options highlights the importance of precision medicine in treating each disorder's unique molecular pathway. This review provides an extensive synthesis of ongoing and current therapeutics in the management of such clinically unique and challenging conditions.
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http://dx.doi.org/10.3390/jcm13061648 | DOI Listing |
Ocul Immunol Inflamm
January 2025
Ocular Oncology Service, Institute of Oncology, Tecnologico de Monterrey, Monterrey, Mexico.
Purpose: To present the case of a young patient with BRAF V600E-mutant cutaneous melanoma who developed bilateral choroidal metastases complicated by neovascular glaucoma (NVG) in both eyes following the interruption of nivolumab therapy.
Methods: A 28-year-old female with primary cutaneous melanoma of the left hand underwent surgical resection and adjuvant nivolumab. Immunotherapy was discontinued due to immune-related acute interstitial nephritis.
Front Biosci (Landmark Ed)
January 2025
Institute of Translational Medicine, Shanghai University, 200444 Shanghai, China.
Background: Dexamethasone has proven life-saving in severe acute respiratory syndrome (SARS) and COVID-19 cases. However, its systemic administration is accompanied by serious side effects. Inhalation delivery of dexamethasone (Dex) faces challenges such as low lung deposition, brief residence in the respiratory tract, and the pulmonary mucus barrier, limiting its clinical use.
View Article and Find Full Text PDFInt J Stroke
January 2025
Medical University of South Carolina, Charleston, SC, USA.
Background: The usual antithrombotic treatment for symptomatic intracranial atherosclerotic stenosis (ICAS) consists of dual treatment with clopidogrel and aspirin for 90 days followed by aspirin alone but the risk of recurrent stroke remains high up to 12 months. The Comparison of Anticoagulation and anti-Platelet Therapies for Intracranial Vascular Atherostenosis (CAPTIVA) trial was designed to determine whether other combinations of dual antithrombotic therapy are superior to clopidogrel and aspirin.
Methods: CAPTIVA is an ongoing, prospective, double-blinded, three-arm clinical trial at over 100 sites in the United States and Canada that will randomize 1683 high-risk subjects with a symptomatic infarct attributed to 70-99% stenosis of a major intracranial artery to 12 months of treatment with (1) ticagrelor (180 mg loading dose, then 90 mg twice daily), (2) low-dose rivaroxaban (2.
Disabil Rehabil
January 2025
Biomedical Signals and Systems, Faculty of Electrical Engineering, Mathematics and Computer Science, University of Twente, Enschede, Netherlands.
Purpose: eHealth might contribute to changes in roles and responsibilities of patients and healthcare professionals (HCPs), including the patient's potential to enhance self-regulation. The aim of this study was to identify important aspects and experiences of self-regulation and factors that may support self-regulation in blended rehabilitation care.
Materials And Methods: Semi-structured interviews were conducted among HCPs and patients regarding perceptions and experiences with self-regulation in relation to a telerehabilitation portal.
Br J Hosp Med (Lond)
January 2025
Nursing Department, Zhang Ye People's Hospital Affiliated to Hexi University, Zhangye, Gansu, China.
Diabetes is a chronic lifelong condition that requires consistent self-care and daily lifestyle adjustments. Effective disease management involves regular blood glucose monitoring and ongoing nursing support. Inadequate education and poor self-management are key factors contributing to increased mortality among diabetic individuals.
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