Medicine
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Bladder cancer (BC) is a common tumor in the urinary system with a high recurrence rate. The individualized treatment and follow-up after surgery is the key to a successful outcome. Currently, the surveillance strategies are mainly depending on tumor stage and grade. Previous evidence has proved that tumor grade was a significant and independent risk factor of BC recurrence. Exploring the grade-related genes may provide us a new approach to predict prognosis and guide the post-operative treatment in BC patients. ⋯ We identified 8 core genes that revealed a significant correlation with the tumor grade as well as the recurrence of BC. Finally, we proved the value of a novel prognostic nomogram for predicting the relapse-free survival of BC patients after surgery, which could guide their treatment and follow-up.
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Observational Study
Whole exome sequencing for diagnosis of hereditary thrombocytopenia.
Hereditary thrombocytopenia comprises extremely diverse diseases that are difficult to diagnose by phenotypes alone. Definite diagnoses are helpful for patient (Pt) management. To evaluate the role of whole exome sequencing (WES) in these Pts. ⋯ Pt 5 had sitosterolemia showing platelets with reduced ristocetin responses and a dilated membrane system on EM with compound heterozygous ABCG5 mutations. Pts 6 and 7 had MYH9 disorders with heterozygous mutations in MYH9. This study substantiates the benefits of WES in identifying underlying mutations of macrothrombocytopenia, expands mutational spectra of four genes, and provides detailed clinical features for further phenotype-genotype correlations.
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Observational Study
Prevalence and the predictive performance of the dynamic CT-angiography spot sign in an observational cohort with intracerebral hemorrhage.
The CT-angiography (CTA) spot sign is a predictor of hematoma expansion (HE). We have previously reported on the use of dynamic CTA (dCTA) to detect spot sign, and to study its formation over the acquisition period. In this study, we report the frequency of dCTA spot sign in acute intracerebral hemorrhage, its sensitivity and specificity to predict HE, and explore the rate of contrast extravasation in relation to hematoma growth. ⋯ Patients with significant HE had a higher rate of extravasation as compared to those without (0.12 mL/min vs 0.04 mL/min, P = .03). Dynamic CTA results in a higher frequency of spot sign positivity, but with modest sensitivity and specificity to predict expansion. Extravasation rate is likely related to HE, but a single measurement may be insufficient to predict the magnitude of expansion.
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Some acute myeloid leukemia (AML) patients are unresponsive to treatment or have remission followed by worsening of disease (known as relapsed/refractory AML [R/RAML]) after standardized treatment. The CAG/HAG regimen is not often used clinically because heterogenous patient responses, resistance, and hematopoietic bone marrow dysfunction have been reported with its use. We present 2 cases of R/RAML treated with a new combined therapy (venetoclax+ hypomethylating agents [HMAs]) in which the HAG dose was adjusted and effective in the first course of treatment. ⋯ We recommend the "venetoclax + HMAs combined with dose-adjusted CAH/HAG" regimen as an effective treatment for adult R/RAML.
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Observational Study
Effects of medial meniscal slope and medial posterior tibial slope on the locations of meniscal tears: A retrospective observational study.
The aim of this study was to analyze the relationship between medial posterior tibial slope (MPTS) and medial meniscus slope (MMS) with the location of meniscal lesions. We hypothesize that meniscuses with greater MPTS and MMS are more likely to have lesions in posterior horn. A total of 292 patients underwent arthroscopic surgery between January 2014 to September 2019 due to knee osteoarthritis (OA) and meniscal lesions were reviewed. ⋯ In group B, 86 knees (39%) were categorized in grade one, 85 knees (39%) in grade two, and 47 knees (26%) in grade three (P = .085). The mean MPTS was 5.06 ± 2.11 degree for group A and 6.15 ± 2.37 degree for group B (P = .001). The mean MMS for group A was lower than group B (1.38 ± 2.12 degree vs 3.14 ± 2.92 degree; P < .000)This study demonstrated that increased MPTS and MMS may be considered as the risk factors for medial meniscal posterior horn tears.