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| http://dx.doi.org/10.1016/j.hrcr.2023.05.007 | DOI Listing |
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Marchiafava-Bignami disease post-bariatric surgery: A case report and review of similar cases.
Neurosciences (Riyadh)
January 2025
From the Neurology of Unit, Department of Medicine, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia.
Marchiafava-Bignami disease (MBD) is a rare neurological disorder typically occurring in alcoholic patients. The main disease mechanism is hypothesized to be vitamin B-complex deficiency due to malnutrition. In the literature, there have been few reported cases of the disease occurring in patients who have undergone bariatric surgery.
View Article and Find Full Text PDFIdentification of Novel and Rare GNAS Mutations in Craniofacial Fibrous Dysplasia.
J Oral Pathol Med
January 2025
Department of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing, China.
Background: Fibrous dysplasia (FD), caused by activating mutations of GNAS, is a skeletal disorder with considerable clinicopathological heterogeneity. Although prevalent mutations such as R201C and R201H dominate in FD, a limited number of rare mutations, including R201S, R201G, and Q227L, have been documented. The scarcity of information concerning these uncommon mutations motivates our investigation, seeking to enhance comprehension of this less-explored subgroup within FD.
View Article and Find Full Text PDFAssessing Long-Term Outcomes after Operative Management of Elbow Stiffness Secondary to Heterotopic Ossification.
J Shoulder Elbow Surg
January 2025
Department of Orthopaedic Surgery and Rehabilitation, Loyola University Health System, Maywood, IL, USA.
Article Synopsis
- Heterotopic ossification (HO) in the elbow leads to limited movement and is often caused by injuries like burns or trauma; this study analyzes the long-term outcomes of 51 elbows treated surgically.
- The study followed 48 patients over an average of 8 years, assessing metrics such as elbow movement arcs, pain levels, and functional performance scores post-surgery.
- Results showed significant improvement in elbow functionality, but patients with type II diabetes experienced the lowest movement range and higher complication rates, indicating potential risk factors for poorer outcomes.
Smith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case report.
J Int Med Res
January 2025
Department of Cardiac Surgery, The Second Hospital & Clinical Medical School, Lanzhou University, Lanzhou, Gansu, China.
Smith-Magenis syndrome (SMS) and Dandy-Walker malformation (DWM) are uncommon genetic conditions with nonspecific clinical features, which makes reaching a definitive diagnosis challenging. We describe here, a 2-year-old girl who was diagnosed with SMS at the age of 12 months due to delayed growth and development. The child presented to hospital with acute heart failure and respiratory failure.
View Article and Find Full Text PDFDiagnostic Challenges in Uncommon Firearm Injury Cases: A Multidisciplinary Approach.
Diagnostics (Basel)
December 2024
Faculty of Medicine and Surgery, "Kore" University of Enna, 94100 Enna, Italy.
: Firearm wounds tend to have a precise pattern. Despite this, real-world case presentations can present uncertain elements, sometimes deviating from what is considered standard, and present uncommon features that are difficult for forensic pathologists and ballistic experts to explain. : A retrospective analysis of autopsy reports from the Institute of Legal Medicine, University of Catania, covering 2019-2023, included 348 judicial inspections and 378 autopsies performed as part of the institute's overall activities.
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