Gastric cancer remains a global health challenge due to the difficulty of detecting it early in asymptomatic, high-risk populations. Current invasive diagnostic methods are impractical for widespread screening. Liquid biopsy using circulating tumor DNA (ctDNA) shows promise, but early detection is hindered by the low abundance and heterogeneity of ctDNA. We developed a multimodal cfDNA assay integrating methylation, fragmentomic, and hotspot mutation profiling from a single blood draw to detect gastric cancer-specific molecular signatures. Using these signatures, a machine-learning model was trained on a discovery cohort of 110 nonmetastatic GC patients and 119 healthy controls, then validated on an independent cohort of 58 patients and 65 controls. The ensemble model achieved an AUC of 0.87 (95
BackgroundCurrently, there are two classic approaches to correcting and setting fractured facial bones globally, which are "Correction sequence from bottom to top-from inside to outside" and "Correction sequence from top to bottom-from outside to inside." No method achieves optimal results in all cases. Depending on each case, the surgeon applies the appropriate sequence of bone correction. Therefore, the application becomes mechanical when relying on one of the two treatment strategies. When patients are treated according to the third principle of correction based on the "firm segment," it becomes more flexible and effective. The "firm segment" here refers to the most stable area on the face, allowing the correction of fractures near cthe "firm segment" first, followed by those farther away.MethodsPatients with pan-facial fractures, classified according to Follmar's classification, undergo Computed Tomography (CT) scans and Three Dimensional (3D) reconstruction to identify the "firm segment" on the 3D images. From there, the correct occlusion is determined, and the fractures are set according to the principle of setting fractures near the firm segment first, followed by those farther away from the firm segment.Results48 patients with pan-facial fractures classified according to Follmar's classification have been identified with the firm segment on 3D images. There are 4 types of firm segments divided on the images, providing the basis for correcting the right occlusion and setting fractures, restoring the facial contour.ConclusionCorrecting based on "Firm segment" is one of the strategies to effectively treat Pan facial fractures, this is an organized and flexible approach, setting fractures near the "firm segment" first and followed by those farther away. This strategy helps shorten the surgical time, ensure stability of the fractures, restore the anatomical shape of facial skeleton and function of the organs.
Circulating tumor DNA (ctDNA) is a novel biomarker to monitor treatment response and predict cancer recurrence. However, the real-world performance of ctDNA monitoring is not well characterized in underrepresented populations such as the Southeast Asians. This retrospective analysis included patients with cancer who had commercial ctDNA tests (K-Track, Gene Solutions, Vietnam) between August 2022 and December 2023. A personalized tumor-informed ctDNA assay was performed for 623 patients and 815 plasma samples to quantify ctDNA before and after treatment. Clinical data of minimum 6 months after the last ctDNA test were available for 263 early-stage patients to analyze the prognostic value of ctDNA. In the early-stage I-III, preoperative ctDNA detection rates were 66.7%, 84.6%, 54.3%, 52.6%, 93.3%, and 75.0% for lung, colorectal, breast, gastric, liver, and ovarian cancers, respectively. After surgery, 84.4% (38/45) of patients with recurrence had ctDNA detected in the plasma, while 96.3% (210/218) of patients with no recurrence had negative results. Postoperative ctDNA positivity significantly increased the risk of recurrence ( P < .001) in lung (hazard ratio [HR], 71.3 [95% CI, 17.6 to 287.8]), colorectal (HR, 44.3 [95% CI, 11.3 to 173.2]), breast (HR, 37.6 [95% CI, 3.09 to 456.8]), and gastric (HR, >100 [95% CI, 26.9 to >100.0) cancers. In the metastatic stage IV, pretreatment ctDNA detection rates were 80.0%, 87.7%, 73.3%, 70.6%, 91.7%, and 81.8% for lung, colorectal, breast, gastric, liver, and ovarian cancers, respectively. Case studies were presented to demonstrate utilization of ctDNA at all cancer stages. ctDNA was a strong prognostic biomarker to monitor patients during cancer management.
BACKGROUND:Breast cancer (BC) remains the second leading cause of cancer-related mortality among women worldwide. Liquid biopsy based on circulating tumor DNA (ctDNA) offers a promising noninvasive approach for early detection; however, differentiating malignant tumors from benign abnormalities remains a significant challenge. RESULTS:Here, we developed a multimodal approach to analyze cfDNA methylation and fragmentomic patterns in 273 BC patients, 108 individuals with benign breast conditions, and 134 healthy controls. Genome-wide analyses revealed distinct cfDNA copy number alterations and cytosine-enriched cleavage sites in BC patients. Targeted sequencing further revealed unique methylation patterns, including hypermethylation in GPR126, KLF3, and TLR10 and hypomethylation in TOP1 and MAFB. Our machine-learning model achieved an AUC of 0.90, with 93.6% specificity and 62.1-66.3% sensitivity for stage I-II cancers. In symptomatic populations, sensitivities were 50.0%, 68.2%, and 64.7% for BI-RADS categories 3, 4, and 5, respectively, with 96.1% specificity. CONCLUSIONS:These findings underscore the potential of cfDNA biomarkers to enhance BC detection and reduce the rate of unnecessary biopsies.
The improved survival rates of patients with thalassemia have led to the identification of new complications, including renal diseases. In cases of end-stage kidney disease, kidney transplantation is regarded as the preferred treatment. However, research on kidney transplantation in thalassemia patients remains limited. We present the case of a transfusion-dependent alpha-thalassemia patient who underwent kidney transplantation due to end-stage kidney disease and maintained stable graft function over a 7-year follow-up period. Notably, 7 years post-transplant, the patient demonstrated a creatinine level of 128 µmol/L and a glomerular filtration rate of 64 mL/min/1.73 m2. Despite requiring blood transfusions every 3 months, the patient’s renal function remained stable throughout the follow-up period. This case highlights the viability and effectiveness of kidney transplantation as a long-term treatment option for patients with alpha-thalassemia and end-stage kidney disease, as well as the need for further research to better understand the long-term outcomes and challenges in this population.