[Short-term Effect of Venetoclax Combined with Azacitidine and "7+3" Regimen in the Treatment of Newly Diagnosed Elder Patients with Acute Myeloid Leukemia].

Objective: To compare the short-term effect and adverse reaction of venetoclax (VEN) combined with azacitidine (AZA) versus "7+3" regimen in newly diagnosed elder patients with acute myeloid leukemia (AML).

Methods: From January 2021 to January 2022, the clinical data of seventy-nine newly diagnosed elder patients with AML at the Second Hospital of Shanxi Medical University and the Shanxi Bethune Hospital were retrospectively analyzed, including VEN+AZA group (41 cases) and "7+3" group (38 cases). The propensity score matching(PSM) method was used to balance confounding factors， then response， overall survival(OS), progressionfree survival(PFS) and adverse reactions between the two groups were compared.

[Impact of Mutation on Treatment Response and Survival of Patients with Acute Myeloid Leukemia].

Objective: To investigate the expression of mutation in acute myeloid leukemia (AML) and analyze its clinical characteristics and prognosis.

Methods: A retrospective study was conducted in 212 patients with AML who were newly diagnosed in the Second Hospital of Shanxi Medical University from January 1th 2018 to June 30th 2021, including 22 patients with mutations as mutation group and 190 patients with wild type ［66 cases of them were screened by propensity score matching (PSM), as control group］. The early efficacy and survival between the two groups were compared.

Multi-omics analysis reveals a molecular landscape of the early recurrence and early metastasis in pan-cancer.

Cancer remains a formidable challenge in medicine due to its propensity for recurrence and metastasis, which can result in unfavorable treatment outcomes. This challenge is particularly acute for early-stage patients, who may experience recurrence and metastasis without timely detection. Here, we first analyzed the differences in clinical characteristics among the primary tumor, recurrent tumor, and metastatic tumor in different stages of cancer, which may be caused by the molecular level.

Integration of multi-omics data reveals a novel hybrid breast cancer subtype and its biomarkers.

Tumor heterogeneity in breast cancer hinders proper diagnosis and treatment, and the identification of molecular subtypes may help enhance the understanding of its heterogeneity. Therefore, we proposed a novel integrated multi-omics approach for breast cancer typing, which led to the identification of a hybrid subtype (Mix_Sub subtype) with a poor survival prognosis. This subtype is characterized by lower levels of the inflammatory response, lower tumor malignancy, lower immune cell infiltration, and higher T-cell dysfunction.

Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report.

Background: Gaucher disease (GD) is caused by a gene mutation that leads to decreased acid β-glucosidase activity [glucocerebrosidase (GCase)]. This study aimed to identify and characterise compound heterozygous mutations in in a patient with type 1 GD.

Case Summary: Here, we report a rare adult-onset type 1 GD in a 46-year-old female patient with clinical manifestations of giant spleen, thrombocytopenia, and bone pain, diagnosed by enzymatic and genetic testing.

Identification of Markers for Diagnosis and Treatment of Diabetic Kidney Disease Based on the Ferroptosis and Immune.

Background: In advanced diabetic kidney disease (DKD), iron metabolism and immune dysregulation are abnormal, but the correlation is not clear. Therefore, we aim to explore the potential mechanism of ferroptosis-related genes in DKD and their relationship with immune inflammatory response and to identify new diagnostic biomarkers to help treat and diagnose DKD.

Methods: Download data from gene expression omnibus (GEO) database and FerrDb database, and construct random forest tree (RF) and support vector machine (SVM) model to screen hub ferroptosis genes (DE-FRGs).

Oncogenic signaling pathway dysregulation landscape reveals the role of pathways at multiple omics levels in pan-cancer.

Dysregulation of signaling pathways plays an essential role in cancer. However, there is not a comprehensive understanding on how oncogenic signaling pathways affect the occurrence and development with a common molecular mechanism of pan-cancer. Here, we investigated the oncogenic signaling pathway dysregulation by using multi-omics data on patients from TCGA from a pan-cancer perspective to identify commonalities across different cancer types.

Comparison of Silicosis and Tuberculosis Involving Mediastinal Lymph Nodes Based on Contrast-Enhanced Multidetector-Row Computed Tomography.

Purpose: To investigate the different imaging features of contrast-enhanced multidetector-row-computed tomography (MDCT) for distinguishing between silicosis and tuberculosis involving the mediastinal lymph nodes.

Methods: 86 silicosis patients and 61 tuberculosis patients with mediastinal lymphadenopathy based on contrast-enhanced MDCT were included. The enhanced patterns, anatomical distribution and calcification features of the enlarged lymph nodes were retrospectively compared between the groups using the Pearson chi-square test or Fisher's exact test.

Effect of Mitral Regurgitation on Left Ventricular Deformation in Myocardial Infarction Patients: Evaluation by Cardiac Magnetic Resonance Imaging.

Background: Mitral regurgitation (MR) is a comorbidity of myocardial infarction (MI), which may promote the incidence of adverse cardiovascular clinical events. However, it is not yet completely understood how MR in MI patients is associated with impaired myocardial deformation.

Purpose: To determine the damaging myocardium effects of MR in MI patients in terms of the global peak strain (PS) and left ventricular (LV) function, and evaluate the independent risk factors impacting LV deformation after MI.

Impact of myocardial scars on left ventricular deformation in type 2 diabetes mellitus after myocardial infarction by contrast-enhanced cardiac magnetic resonance.

Background: Type 2 diabetes mellitus (T2DM) is a major risk factor for coronary artery disease and myocardial infarction (MI). The interaction of diabetic cardiomyopathy and MI scars on myocardial deformation in T2DM patients is unclear. Therefore, we aimed to evaluate myocardial deformation using cardiac magnetic resonance (CMR) in T2DM patients with previous MI and investigated the influence of myocardial scar on left ventricular (LV) deformation.

LINC00162 participates in the pathogenesis of diabetic nephropathy via modulating the miR-383/HDAC9 signalling pathway.

Diabetic nephropathy (DN) is a common chronic complication of diabetes. In this study, we aimed to explore the potential role of lncRNA LINC-00162 in the pathogenic process of DN. LncRNA microarray analysis, real-time PCR, IHC computational analysis and luciferase assay were performed to explore the regulatory relationship among LINC00162, miR-383 and HDAC9.

Suspension array-based deafness genetic screening in 53,033 Chinese newborns identifies high prevalence of 109 G>A in GJB2.

Objectives: More than 50% of congenital hearing loss is attributed to genetic factors. Data of gene mutation associated with hearing loss from large population studies in Chinese population are scarce. In this study, we conducted a comprehensive newborn genetic screening in China to establish the carrier frequency and mutation spectrum of deafness-associated genes.

[Clinical Value of Multi-slice Spiral Enhanced CT in Diagnosing Mild Digestive Tract Hemorrhage].

Objective To investigate the clinical value of multi-slice spiral CT(MSCT) in the diagnosis of mild digestive tract hemorrhage. Methods Thirty-five patients with mild gastrointestinal hemorrhage were examined by enhanced MSCT.CT signs were observed and compared with pathologic examination findings.

[Components of Urinary Nanocrystals and Their Influence on Formation of Calcium Oxalate Stones].

High-resolution transmission electron microscopy, X-ray diffraction, selected area electron diffraction (SAED), and energy dispersive spectroscopy (EDS) were accurately performed to analyze the components of nanocrystals in the urine of patients with calcium oxalate (CaOx) stones. XRD, SAED and FFT detected the presence of calcium oxalate monohydrate (COM), uric acid (UA), and calcium phosphate (CaP). EDS detected the elements of C, O, Ca, with a small amount of N and P.