Rotationplasty is an established technique that is indicated as part of the surgical reconstruction for certain patients with primary bone tumors around the knee who undergo tumor resection. There is considerable variation in the application of rotationplasty by surgeons as well as acceptance of the procedure by patients who may be candidates for this procedure. We qualitatively studied the decision-making process of families of patients who had undergone rotationplasty by interviewing 4 patients and their families using semi-structured interviews. Thematic analysis identified the following themes that were important in the decision-making process: (1) the desire for good information sources, (2) finding value in meeting with other patients who had been faced with a similar decision, (3) prioritizing function over cosmesis, (4) a desire to limit the need for revision surgeries, and (5) accepting that a return to normalcy is not an option with a surgery. Physicians and patients faced with a similar decision can benefit from a better understanding of the process, and by the normalization of anxieties and concerns that they may experience.
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http://dx.doi.org/10.1177/23743735211069818 | DOI Listing |
Genet Med
January 2025
Division of Human Genetics, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Purpose: Noonan syndrome and related disorders (NS) are multisystemic conditions affecting approximately 1:1000 individuals. Previous natural history studies were conducted prior to widespread comprehensive genetic testing. This study provides updated longitudinal natural history data in participants with molecularly confirmed NS.
View Article and Find Full Text PDFHeliyon
January 2025
Department of Medical Oncology, Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Guangdong Provincial Clinical Research Center for Cancer, Guangzhou, 510060, PR China.
Background: In several studies of head and neck squamous cell carcinoma (HNSC), the regulation of tumorigenesis and therapeutic sensitivity by pyroptosis has been observed. However, a systematic analysis of gasdermin family members (GSDMs, including GSDMA/B/C/D/E and PJVK), which are deterministic executors of pyroptosis, has not yet been reported in HNSC.
Methods: We performed comprehensive analyses of the expression profile, prognostic value, regulatory network, and immune infiltration modulation of GSDMs in HNSC on the basis of a computational approach and bioinformatic analysis of publicly available datasets.
Cureus
December 2024
Department of Pediatric Rheumatology, Kocaeli University, Kocaeli, TUR.
Background Health literacy (HL) refers to the ability of individuals to find, understand, and use information and resources to make informed health-related decisions and actions for themselves and others. Managing chronic diseases in children and adolescents requires active family involvement. The primary objective of the study is to evaluate the HL levels of parents of children diagnosed with familial Mediterranean fever (FMF).
View Article and Find Full Text PDFCureus
December 2024
Family Medicine, Family Health Unit (USF) Almedina, Local Health Unit of Trás-os-Montes and Alto Douro (ULSTMAD), Lamego, PRT.
Easy bruising and ecchymosis are common symptoms in clinical practice, yet distinguishing benign from clinically significant cases can be challenging. We report the case of a 46-year-old woman who presented in December 2023 with easy bruising and increased menstrual flow, revealing new-onset pancytopenia in laboratory tests. Initially diagnosed with Acute Myeloid Leukemia inversion (inv) (16), subsequent results were inconclusive, leading to a diagnosis of Paroxysmal Nocturnal Hemoglobinuria (PNH).
View Article and Find Full Text PDFMiddle East J Dig Dis
October 2024
Geriatric Health Research Center, Department of Physiology, School of Medicine, Birjand University of Medical Sciences, Birjand, Iran.
Background: Among environmental factors, infectious agents, including , can act as triggers for autoimmune thyroid diseases. Therefore, this study aimed to investigate the correlation between autoimmune Hashimoto's thyroiditis with infection.
Methods: The participants in this case-control study were 74 individuals 17-62 years who were divided into two groups, including 38 diagnosed Hashimoto's thyroiditis patients from an outpatient clinic of endocrinology and 36 apparently healthy individuals that were selected from family members of cases group age-matched and sex-matched.
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