Medicine
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The presence of specific genetic mutations in patients with glioblastoma multiforme (GBM) is associated with improved survival outcomes. Disruption of the DNA damage response (DDR) pathway in tumor cells enhances the effectiveness of radiotherapy drugs, while increased mutational burden following tumor cell damage also facilitates the efficacy of immunotherapy. The ATRX gene, located on chromosome X, plays a crucial role in DDR. ⋯ Our model also demonstrated prolonged overall survival in patients carrying ATRX mutations, particularly showing strong predictive value for 3- and 5-year survival rates. Furthermore, additional protective factors such as younger age, female gender, combined IDH mutations, and TP53 mutations were identified. The results underscore the protective role and prognostic significance of ATRX mutations in GBM as a potential therapeutic target and biomarker for patient survival.
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Cochlear migraine (CM) and cochleovestibular migraine were first reported in 2018. However, the diagnostic criteria and types of CM were still undefined. We proposed a hypothetical criteria for CM as below: A. ⋯ Type 3: idiopathic sudden SNHL with or without tinnitus, but deteriorated over time (21.0%). Type 4: unilateral fluctuating tinnitus with or without aural fullness, otalgia or mild SNHL (21.0%). We hope to raise more discussion about the criteria and clinical types of CM and/or cochleovestibular migraine.
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Case Reports
Blind nasoenteric tube placement risks: A case report of misplacement into the pleural cavity.
Enteral nutrition is a critical component of care for critically ill patients. However, the blind insertion of a nasoenteric tube, despite being a simple procedure, carries inherent risks that necessitate a reevaluation of the technique. ⋯ The case prompts a reevaluation of blind placement techniques and calls for the adoption of more reliable technologies to prevent similar incidents and ensure patient safety, such as electromagnetic and visualized guided placement technique.
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Endosomes play a pivotal role in cellular biology, orchestrating processes such as endocytosis, molecular trafficking, signal transduction, and recycling of cellular materials. This study aims to construct an endosome-related gene (ERG)-derived risk signature for breast cancer prognosis. Transcriptomic and clinical data were retrieved from The Cancer Genome Atlas and the University of California Santa Cruz databases to build and validate the model. ⋯ Ultimately, risk score and age were identified as independent prognostic factors for breast cancer, and these factors were incorporated into a nomogram that demonstrated excellent performance in prognosis assessment. Finally, external cohort validated the dysregulation of the risk score-associated ERGs in breast cancer cells and tissues. This study successfully established an ERG-derived breast cancer risk signature and nomogram, elucidating their potential value in prognosis prediction and evaluation of therapeutic response.
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This study investigates the genetic cause of primary infertility and short stature in a woman, focusing on maternal X chromosome pericentric inversion and its impact on offspring genetic outcomes, including deletions at Xp22.33 and Xp22.33p11.3, and duplications spanning Xq27.3 to the distal end of the X chromosome's long arm. ⋯ Maternal X chromosome pericentric inversion significantly affects offspring genetic outcomes. Assisted reproductive technologies, including in vitro fertilization with preimplantation genetic testing, are recommended to reduce recurrence risks in future pregnancies. Prenatal genetic testing is advised for natural conception to ensure fetal genetic health.