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Optimal Delivery of Pain Management in Schwannomatosis: A Literature Review.
Ther Clin Risk Manag
January 2025
Department of Neurosurgery, Keio University School of Medicine, Tokyo, Japan.
Non-NF2 schwannomatosis is a rare syndrome characterized by multiple benign schwannomas that primarily affect nerve sheaths, with chronic, treatment-resistant pain as the most common symptom. No protocol has been established for pain management, and pharmacotherapies, including molecular target therapies, are being evaluated. Neuromodulation therapies such as scrambler therapy and surgical options are also employed; however, surgery may lead to persistent or recurrent pain caused by nerve damage or tumor recurrence.
View Article and Find Full Text PDFThe topography of nullomer-emerging mutations and their relevance to human disease.
Comput Struct Biotechnol J
December 2024
Institute for Personalized Medicine, Department of Biochemistry and Molecular Biology, The Pennsylvania State University College of Medicine, Hershey, PA, USA.
Nullomers are short DNA sequences (11-18 base pairs) that are absent from a genome; however, they can emerge due to mutations. Here, we characterize all possible putative human nullomer-emerging single base pair mutations, population variants and disease-causing mutations. We find that the primary determinants of nullomer emergence in the human genome are the presence of CpG dinucleotides and methylated cytosines.
View Article and Find Full Text PDFAn elderly patient with low-grade fibromyxoid sarcoma with early postoperative recurrences and metastases: a case report.
J Med Case Rep
January 2025
Division of Orthopedic Surgery, Hillel Yaffe Medical Center, Ha-Shalom St, 3820302, Hadera, Israel.
Background: Low-grade fibromyxoid sarcoma is a rare soft tissue tumor characterized by a benign histological appearance but with a high potential for recurrence and metastasis. First described by Evans in 1987, recurrence and metastasis can occur decades after the initial diagnosis, complicating long-term management.
Case Presentation: We report the case of an 83-year-old Jewish female patient diagnosed with low-grade fibromyxoid sarcoma in her right shoulder.
Clinical outcomes after 2-year follow-up of transvaginal radiofrequency ablation of symptomatic uterine fibroids.
J Obstet Gynaecol Res
January 2025
Obstetrics and Gynecology Department, Virgen de las Nieves University Hospital, Granada, Spain.
Aim: The aim of this study was to evaluate the efficacy after 2 years follow-up of transvaginal radiofrequency ablation (TVRA) to treat myomas, and to identify factors predictive of the response to the treatment.
Methods: This is a prospective cohort study of a 2-year follow-up of 65 patients who underwent TVRA for the treatment uterine fibroids at Virgen de las Nieves University Hospital in Granada, Spain. Ultrasound mean fibroid volume, symptom severity scale, total bleeding days, complications, pregnancy outcomes were recorded.
A Systematic Approach to Prioritise Diagnostically Useful Findings for Inclusion in Electronic Health Records as Discrete Data to Improve Clinical Artificial Intelligence Tools and Genomic Research.
Clin Oncol (R Coll Radiol)
December 2024
Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, 9200 W Wisconsin Ave, Milwaukee, WI 53226, USA; Department of Pathology, Yale School of Medicine, 20 York Street, Ste East Pavilion 2-631, New Haven, CT 06510, USA. Electronic address:
Aims: The recent widespread use of electronic health records (EHRs) has opened the possibility for innumerable artificial intelligence (AI) tools to aid in genomics, phenomics, and other research, as well as disease prevention, diagnosis, and therapy. Unfortunately, much of the data contained in EHRs are not optimally structured for even the most sophisticated AI approaches. There are very few published efforts investigating methods for recording discrete data in EHRs that would not slow current clinical workflows or ways to prioritise patient characteristics worth recording.
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