An infant with trisomy 9 and partial trisomy 12 derived from maternal balanced translocation: A case report and literature review.

We present here, a case of a neonate with an unbalanced chromosomal translocation due to a maternal chromosomal translocation carriage that resulted in the presence of trisomy 9p combined with a partial trisomy 12p. Karyotype analysis was performed using conventional cytogenetic chromosomal analysis using the GTG-banding technique. The mother was a carrier of a balanced chromosomal translocation of 46, XX, t(9;12)(q13;p11.

Liubao tea extract restrains obesity-related hyperlipidemia via regulation of AMPK/p38/NF-κB pathway and intestinal microbiota.

Liubao tea, a traditional dark tea, has gained widespread recognition for various health benefits. In this study, the effects of Liubao tea extract (LTE) on obesity-related hyperlipidemia and the potential mechanism involved were explored. Anti-obesity compounds such as tricetin, isovitexin, tiliroside, etc.

Triptolide induces hepatotoxicity by promoting ferroptosis through Nrf2 degradation.

Background: Triptolide (TP), a principal active substance from Tripterygium wilfordii, exhibits various pharmacological effects. However, its potential hepatotoxicity has always been a significant concern in clinical applications.

Purpose: This research aimed to explore the involvement of ferroptosis in TP-mediated hepatic injury and the underlying mechanisms.

METTL16 participates in haemoglobin H disease through m6A modification.

Background: Haemoglobin H (HbH) disease is caused by a disorder of α-globin synthesis, and it results in a wide range of clinical symptoms. M6A methylation modification may be one of the mechanisms of heterogeneity. Therefore, this article explored the role of methyltransferase like 16 (METTL16) in HbH disease.

Development and validation of a prediction model for hypoproteinemia after traumatic spinal cord injury: A multicenter retrospective clinical study.

A multicenter retrospective analysis of conventionally collected data. To identify the potential causes of hypoproteinemia after traumatic spinal cord injury (TSCI) and provide a diagnostic model for predicting an individual likelihood of developing hypoproteinemia. Hypoproteinemia is a complication of spinal cord injury (SCI), an independent risk factor for respiratory failure in elderly patients with SCI, and a predictor of outcomes in patients with cervical SCI.

Inflammatory myofibroblastic tumor in the liver: a case report.

Background: Hepatic inflammatory myofibroblastic tumor (IMT) is an infrequent tumor with potential malignancy. However, it lacks specific clinical symptoms and usual imaging features.

Case Presentation: A 34-year-old woman had a six-month history of fever and on-and-off pain in the upper right part of her abdomen that lasted for two weeks.

Long-Term Follow-Up of Patients Undergoing Thalidomide Therapy for Transfusion-Dependent β-Thalassaemia: A Single-Center Experience.

Objective: We evaluated the long-term safety and efficacy of thalidomide in the treatment of transfusion-dependent β-thalassemia (TDT).

Methods: Fifty patients with TDT were treated with thalidomide and followed-up for 5 years. Thalidomide at a 50 mg dose was administered once a day after dinner.

Perforation of descending colonic cancer as a rare cause of gas gangrene of the lower limb in an 80-year-old female: a case report.

Gas gangrene is a rare, severe gas-producing infection that can be related to colorectal cancer. Gas gangrene can be confirmed by radiologic findings and crepitation on touch. Spontaneous gas gangrene can be associated with colorectal cancer.

Effect and mechanism of recombinant human fibroblast growth factor 18 on osteoporosis in OVX mice.

Objectives: This study aimed to investigate the effect and the mechanism of recombinant human fibroblast growth factor 18 (rhFGF18) on postmenopausal osteoporosis.

Methods: The effect of rhFGF18 on the proliferation and apoptosis of osteoblasts and the mechanism underlying such an effect was evaluated using an oxidative stress model of the MC3T3-E1 cell line. Furthermore, ovariectomy was performed on ICR mice to imitate estrogen-deficiency postmenopausal osteoporosis.

[Significance of triggering receptor expressed on myeloid cells-2 prognostic evaluation in hepatitis B virus-related acute-on-chronic liver failure].

To explore the significance of triggering receptor expressed on myeloid cells-2 (TREM-2) prognostic evaluation so as to provide novel biological markers in clinical practice for patients with hepatitis B virus-related acute-on-chronic liver failure ( HBV-ACLF). The research subjects of this study were divided into an experimental group and a control group. Fifty HBV-ACLF cases admitted to the Department of Infectious Diseases of the First Affiliated Hospital of Nanchang University from January 1, 2019 to December 31, 2019 were selected as the experimental group.

Clinical significance and prospective mechanism of increased CDKN2A expression in small cell lung cancer.

Background: Although it has been shown that cyclin dependent kinase inhibitor 2A (CDKN2A) plays a significant role in a number of malignancies, its clinicopathological value and function in small cell lung cancer (SCLC) is unclear and warrants additional research.

Methods: The clinical significance of CDKN2A expression in SCLC was examined by multiple methods, including comprehensive integration of mRNA level by high throughput data, Kaplan-Meier survival analysis for prognostic value, and validation of its protein expression using in-house immunohistochemistry.

Results: The expression of CDKN2A mRNA in 357 cases of SCLC was evidently higher than that in the control group (n = 525) combing the data from 20 research centers worldwide.

PASS-ALL study of paediatric-inspired versus adult chemotherapy regimens on survival of high-risk Philadelphia-negative B-cell acute lymphoblastic leukaemia with allogeneic haematopoietic stem cell transplantation.

This PASS-ALL study was designed to explore the effect of paediatric-inspired versus adult chemotherapy regimens on survival of adolescents and young adults (AYA) with high-risk Philadelphia chromosome-negative B-cell acute lymphoblastic leukaemia (HR PH-ve B-cell ALL) eligible for allogeneic haematopoietic stem cell transplantation (allo-HSCT). The PASS-ALL study is a multicentre, observational cohort study, and 143 patients with HR B-cell PH-ve ALL were enrolled from five centres-77 patients allocated in the paediatric-inspired cohort and 66 in the adult cohort with comparable baseline characteristics. Of the 143 patients, 128 cases underwent allo-HSCT.

Advances in pathogenesis and treatment of ocular involvement in Behcet's disease.

Behcet's disease (BD) is a chronic multi-systemic disease characterized by relapsing-remitting oral ulcers, genital ulcers, ocular inflammatory involvements, and numerous other systemic features. Ocular involvements are quite common in BD and may cause severe tissue damage and potentially blindness. Even though the pathogenesis of BD remains ambiguous, growing evidences have shown that genetic factors, environmental triggers and immunological abnormalities play significant roles in its development and progression.

Association of aquaporin-4 antibody-seropositive optic neuritis with vision-related quality of life and depression.

Objective: Aquaporin-4 (AQP4) antibody-seropositive optic neuritis (AQP4-ON) is one of the most common types of optic neuritis in China. However, the association between AQP4-ON and vision-related quality of life (QoL) and depression remains poorly understood.

Methods: In this cross-sectional study, 57 patients with optic neuritis were evaluated for their vision-related QoL using a Chinese version of the 25-item National Eye Institute Visual Function Questionnaire (VFQ-25) and assessed for depressive symptoms using a Chinese version of the Beck Depression Inventory-II (BDI-II).

Effect of refined management on the recovery of patients undergoing sinusitis surgery via nasal endoscopy.

Objective: To explore the effect of refined management in the operation room on promoting postoperative recovery in patients undergoing sinusitis surgery via nasal endoscopy.

Methods: In this retrospective study, the clinical data of 80 patients undergoing endoscopic sinus surgery were divided into study group (SG) and control group (CG) according to different nursing methods, with 40 cases in each group. The CG only received routine nursing, while the SG adopted refined management in addition to routine nursing.

Poly(I:C)-exposed zebrafish shows autism-like behaviors which are ameliorated by gene knockout.

Introduction: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders mainly representing impaired social communication. The etiology of ASD includes genetic and environmental risk factors. Rodent models containing ASD risk gene mutations or environmental risk factors, such as exposure to maternal inflammation, show abnormal behavior.

Early life exposure to chronic unpredictable stress induces anxiety-like behaviors and increases the excitability of cerebellar neurons in zebrafish.

Anxiety is a common emotional disorder in children. To understand its underlying mechanisms, chronic unpredictable stress (CUS) has been established as a stress model in zebrafish. By using the tall tank test, the stress response reliability could be improved in adult fish which has not been confirmed in larvae.

Upregulation of CCNB2 and Its Perspective Mechanisms in Cerebral Ischemic Stroke and All Subtypes of Lung Cancer: A Comprehensive Study.

Cyclin B2 (CCNB2) belongs to type B cell cycle family protein, which is located on chromosome 15q22, and it binds to cyclin-dependent kinases (CDKs) to regulate their activities. In this study, 103 high-throughput datasets related to all subtypes of lung cancer (LC) and cerebral ischemic stroke (CIS) with the data of CCNB2 expression were collected. The analysis of standard mean deviation (SMD) and summary receiver operating characteristic (SROC) reflecting expression status demonstrated significant up-regulation of CCNB2 in LC and CIS (Lung adenocarcinoma: SMD = 1.

Magnetic Resonance Imaging Quantification of the Liver Iron Burden and Volume Changes Following Treatment With Thalidomide in Patients With Transfusion-Dependent -Thalassemia.

Clinical trials have indicated that thalidomide could be used to treat thalassemia, but evidence of changes in liver iron burden and liver volume during thalidomide treatment is lacking. This study aimed to evaluate the liver iron burden and volume changes following thalidomide treatment in patients with transfusion-dependent -thalassemia. A total of 66 participants with transfusion-dependent -thalassemia were included in this prospective cohort study between January 2017 and December 2020.

Safety and efficacy of thalidomide in patients with transfusion-dependent β-thalassemia: a randomized clinical trial.

Thalidomide induces γ-globin expression in erythroid progenitor cells, but its efficacy on patients with transfusion-dependent β-thalassemia (TDT) remains unclear. In this phase 2, multi-center, randomized, double-blind clinical trial, we aimed to determine the safety and efficacy of thalidomide in TDT patients. A hundred patients of 14 years or older were randomly assigned to receive placebo or thalidomide for 12 weeks, followed by an extension phase of at least 36 weeks.