Due to refined and new diagnostic possibilities and improved medical care, in the future anesthesiologists will be more frequently confronted with patients suffering from rare diseases. As the physicians providing perioperative care often have little or no experience with the diseases of such patients, the access to high-quality specific literature is essential. In this respect they must be able to assess and classify the quality of the information which is predominantly available online, especially as when evidence-based knowledge is available, it is only available to a very limited extent. Patients with rare diseases mostly present with recurring problem constellations. A systematic assignment to the most important problem areas (airway, circulation, metabolism, etc.) as well as a structured and interdisciplinary approach are decisive for a successful perioperative treatment of these patients. Due to low prevalence, lack of personal experience and lack of evidence-based data, anesthesia in patients with SE is an absolute challenge, especially in time-critical situations.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1007/s00101-023-01353-6 | DOI Listing |
Introduction: Solitary plasmacytomas are tumors characterized by a local increase of malignant plasma cells in soft tissue or bone and may occur anywhere without evidence of systemic disease. The aim was to focus on the main surgical techniques and outcomes for this rare chest wall tumor.
Methods: Patients with solitary plasmacytoma involving a rib, who were operated for diagnostic or treatment purposes between 2018 and 2023 were retrospectively reviewed.
Blood
January 2025
Division of Immunology and Allergy, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine; Institute for Immunology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.
Leukopoiesis is lethally arrested in mice lacking the master transcriptional regulator PU.1. Depending on the animal model, subtotal PU.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
SOX9 is a crucial transcriptional regulator of cartilage development and homeostasis. Dysregulation of is associated with a wide spectrum of skeletal disorders, including campomelic dysplasia, acampomelic campomelic dysplasia, and scoliosis. Yet how variants contribute to the spectrum of axial skeletal disorders is not well understood.
View Article and Find Full Text PDFAdv Healthc Mater
January 2025
Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji'nan, Shandong, 250014, China.
The porous structure is crucial in bone tissue engineering for promoting osseointegration. Among various structures, triply periodic minimal surfaces (TPMS) -Gyroid has been extensively studied due to its superior mechanical and biological properties. However, previous studies have given limited attention to the impact of unit cell size on the biological performance of scaffolds.
View Article and Find Full Text PDFCerebellum
January 2025
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited condition described worldwide and characterized by a wide spectrum of heterogeneity in terms of genotype and phenotype. How sacsin loss leads to neurodegeneration is still unclear, and current knowledge indicates that sacsin is involved in multiple functional mechanisms. We hence hypothesized the existence of epigenetic factors, in particular alterations in methylation patterns, that could contribute to ARSACS pathogenesis and explain the pleiotropic effects of SACS further than pathogenic mutations.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!