Case Report: Preimplantation Genetic Testing for Meckel Syndrome Induced by Novel Compound Heterozygous Mutations of .

Meckel syndrome (MKS), also known as the Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of the primary cilia during early embryogenesis. The diagnostic criteria are based on clinical variability and genetic heterogeneity. Mutations in the gene constitute approximately 7% of all MKS cases.

Insights Gained and Future Outlook From scRNAseq Studies in Autoimmune Rheumatic Diseases.

Autoimmune rheumatic diseases have a major impact on public health as one of the most common morbidities, and many of these disorders involve both local and systemic manifestations with severe consequences for patient health and quality of life. However, treatment options for many of these diseases remain inadequate for a substantial portion of patients, and progress in developing novel therapeutics has been slow. This lack of progress can be largely attributed to an insufficient understanding of the complex mechanisms driving pathogenesis.

NUT midline carcinoma as a primary lung tumor treated with anlotinib combined with palliative radiotherapy: a case report.

Background: NUT (nuclear protein in testis) midline carcinoma (NMC) is a rapidly progressive tumor arising from midline structures. Recent cases have reported that the poor prognosis with a median survival of 6.7 months and a 2 years overall survival of 19% due to limited treatment.

Comparison of Drug-Eluting Stent With Bare-Metal Stent in Patients With Symptomatic High-grade Intracranial Atherosclerotic Stenosis: A Randomized Clinical Trial.

Importance: In-stent restenosis (ISR) is the primary reason for stroke recurrence after intracranial stenting in patients who were treated with a standard bare-metal stent (BMS). Whether a drug-eluting stent (DES) could reduce the risk of ISR in intracranial atherosclerotic stenosis (ICAS) remains unclear.

Objective: To investigate whether a DES can reduce the risk of ISR and stroke recurrence in patients with symptomatic high-grade ICAS.

Oncogenic role of karyopherin α2 (KPNA2) in human tumors: A pan-cancer analysis.

Background: KPNA2, a nuclear export protein that plays an important role in tumorigenesis, is an emerging hotspot target in oncology. Despite increasing supporting evidence of its importance, no pan-cancer analysis, across multiple databases, is available for in-depth data mining of the gene.

Methods: Tumor data from both The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) were explored to investigate the potential oncogenic roles of KPNA2.

Clinical Outcome of CT-Guided Stereotactic Ablative Brachytherapy for Unresectable Early Non-Small Cell Lung Cancer: A Retrospective, Multicenter Study.

Objective: To analyze the efficacy and safety of low dose rate stereotactic ablative brachytherapy (L-SABT) for treatment of unresectable early-stage non-small cell lung cancer (NSCLC).

Methods: Data of patients with early-stage NSCLC who received CT-guided L-SABT (radioactive I-125 seeds implantation) at eight different centers from December 2010 to August 2020 were retrospectively analyzed. Treatment efficacy and complications were evaluated.

Advanced hepatocellular carcinoma treated by radiofrequency ablation combined with oncolytic virus and anti-PD-1 antibody therapy: a case report and literature review.

The development of an effective therapy for advanced hepatocellular carcinoma (HCC) represents an important global concern. In recent years, the combination of multiple treatment methods with immunotherapy has achieved great progress in patients with advanced HCC. Patient survival has been significantly prolonged, but cases of complete response (CR) remain rare.

The Chinese consensus for surgical treatment of traumatic rib fractures 2021 (C-STTRF 2021).

Rib fracture is the most common injury in chest trauma. Most of patients with rib fractures were treated conservatively, but up to 50% of patients, especially those with combined injury such as flail chest, presented chronic pain or chest wall deformities, and more than 30% had long-term disabilities, unable to retain a full-time job. In the past two decades, surgery for rib fractures has achieving good outcomes.

Myocardial involvement in idiopathic inflammatory myopathies: a multi-center cross-sectional study in the CRDC-MYO Registry.

Objectives: This study aimed to investigate the associated factors of myocardial involvements (MIs) in patients with idiopathic inflammatory myopathies (IIMs).

Methods: In this multi-center cross-sectional study, 1946 patients with IIMs were enrolled from Chinese Rheumatism Data Center-Myositis Registry (CRDC-MYO). A total of 108 (5.

Fear in the Chinese Population: Influential Patterns in the Early Stage of the COVID-19 Pandemic.

Major global public health emergencies challenge public mental health. Negative emotions, and especially fear, may endanger social stability. To better cope with epidemics and pandemics, early emotional guidance should be provided based on an understanding of the status of public emotions in the given circumstances.

PSA controls hepatic lipid metabolism by regulating the NRF2 signaling pathway.

The activity of proteinase is reported to correlate with the development and progression of nonalcoholic fatty liver disease (NAFLD). Puromycin-sensitive aminopeptidase (PSA/NPEPPS) is an integral nontransmembrane enzyme that functions to catalyze the cleavage of amino acids near the N-terminus of polypeptides. A previous study suggested that this enzyme acts as a regulator of neuropeptide activity; however, the metabolic function of this enzyme in the liver has not been explored.

Nobiletin downregulates the SKP2-p21/p27-CDK2 axis to inhibit tumor progression and shows synergistic effects with palbociclib on renal cell carcinoma.

Objective: Natural extracts, including nobiletin, have been reported to enhance the efficacy and sensitivity of chemotherapeutic drugs. However, whether and how nobiletin affects tumor growth and progression in renal cell carcinoma (RCC) are still unclear.

Methods: Cell proliferation, cell cycle and apoptosis analyses, colony-formation assays, immunoblotting analysis, and qRT-PCR analysis were performed to investigate how nobiletin affected RCC cell proliferation .

[A comparative study of breast cancer mass screening and opportunistic screening in Chinese women].

To compare the population characteristics, the positive rate of screening, the detection rate of breast cancer, early diagnosis rate and the cost between the mass screening group and opportunistic screening group of breast cancer. This study is a prospective multicenter cohort study conducted from January 1, 2014 to December 31, 2016. The participants were enrolled for mass screening or opportunistic screening of breast cancer.

Respiratory Syncytial Virus Infection Reduces Kynurenic Acid Production and Reverses Th17/Treg Balance by Modulating Indoleamine 2,3-Dioxygenase (IDO) Molecules in Plasmacytoid Dendritic Cells.

BACKGROUND Respiratory syncytial virus (RSV) infection causes a world-wide medical and economic burden. This study analyzed the effects of RSV infection on plasmacytoid dendritic cells (pDCs) and evaluated the immunopathogenesis of RSV infection by measuring relative numbers of FoxP3+ Treg cells and Th17 cells. MATERIAL AND METHODS pDCs were isolated from human blood samples, purified using magnetic microbeads, and treated with RSV, IFN-g, or vehicle.

Comparison of unilateral and bilateral polymethylmethacrylate-augmented cannulated pedicle screw fixation for the management of lumbar spondylolisthesis with osteoporosis.

Background: Cannulated pedicle screw (CPS) augmented by polymethylmethacrylate (PMMA) can achieve satisfactory clinical efficacy in the treatment of lumbar spondylolisthesis with osteoporosis. However, accurate application of CPSs will help to avoid the difficulty of screw revision and reduce the incidence of PMMA-related complications. This study aimed to investigate the mid-term efficacy of CPS compared to unilateral and bilateral applications in this common lumbar degenerative disease.

Cyanidin-3-O-Glucoside Improves Colonic Motility During Severe Acute Pancreatitis by Inhibiting the HS-Regulated AMPK/mTOR Pathway.

Background: Cyanidin-3-O-glucoside (C3G) is an important anthocyanin that can modulate digestive system functioning. Inflammation associated with severe acute pancreatitis (SAP) induces HS production, which impairs the gastrointestinal (GI) system. We investigated the effects of C3G in attenuating SAP-associated colonic motility loss by examining the HS level and activity of AMP-activated protein kinase (AMPK)/mammalian target of rapamycin (mTOR) pathway.

Modified autologous adipose transplantation in the treatment of depressed scars: an experimental study.

Objective: Complex depressed scars can cause tissue adhesion, resulting in serious joint dysfunction. In recent years, autologous adipose and adipose-derived stem cells have been widely used to treat depressed scars, but there are still limitations in these treatment that should be resolved. This study aimed to investigate the therapeutic effects of adipose tissues collected with modified technique on the depressed scars in animals.

Clinical efficacy of Bone Cement-injectable Cannulated Pedicle Screw Short Segment Fixation for Lumbar Spondylolisthesis with Osteoporosise.

Many clinical studies have shown a satisfactory clinical efficacy using bone cement-augmented pedicle screw in osteoporotic spine, however, few studies have involved the application of this type of screw in lumbar spondylolisthesis. This study aims to investigate the mid-term clinical outcome of bone cement-injectable cannulated pedicle screw (CICPS) in lumbar spondylolisthesis with osteoporosis. From 2011 to 2015, twenty-three patients with transforminal lumbar interbody fusion (TLIF) using CICPS for lumbar spondylolisthesis were enrolled in the study.

Diagnostic value of imaging examinations in patients with primary hepatocellular carcinoma.

Primary hepatocellular carcinoma (PHC) includes hepatocellular carcinoma, intrahepatic cholangiocarcinoma and other pathological types and is characterized by rapid progression. Most of the clinical diagnoses are made at late stage or when distant metastasis occurs, increasing the difficulty of treatment and resulting in a poor prognosis. Therefore, the early diagnosis of PHC plays an important role in timely treatment and the improvement of prognosis.