[Clinical and genetic features of children with 3-methylcrotonyl-coenzyme A carboxylase deficiency: an analysis of six cases].

Objectives: To investigate the clinical and genetic features of children with 3-methylcrotonyl-coenzyme A carboxylase deficiency (MCCD).

Methods: A retrospective analysis was conducted on the clinical manifestations and genetic testing results of six children with MCCD who attended Children's Hospital Affiliated to Zhengzhou University from January 2018 to October 2023.

Results: Among the six children with MCCD, there were 4 boys and 2 girls, with a mean age of 7 days at the time of attending the hospital and 45 days at the time of confirmed diagnosis.

P62/SQSTM1 mediates the autophagy-lysosome degradation of CDK2 protein undergoing PI3Kα/AKT inhibition.

CDK2 forms a complex with cyclin A and cyclin E to promote the progress of cell cycle, but when cyclin A and cyclin E are dissociated from the complex and degraded by the ubiquitin proteasome pathway, the fate of the inactive CDK2 is unclear. In this study, we found that the inactive CDK2 protein was degraded by autophagy-lysosome pathway. In the classic model of G0/G1 phase arrest induced by serum starvation, we found that the mRNA level in CDK2 did not change but the protein level decreased.

Poly(ADP-Ribose) Polymerase Activity and Coronary Artery Disease in Type 2 Diabetes Mellitus: An Observational and Bidirectional Mendelian Randomization Study.

Objective: Experimental evidence suggests a close link between PARP (poly[ADP-ribose] polymerase) activation and diabetic endothelial dysfunction. Here, we tested whether PARP activity in circulating leukocytes was associated with coronary artery disease (CAD) among patients with type 2 diabetes mellitus (T2DM). Approach and Results: We performed observational and bidirectional Mendelian randomization studies of 3149 Chinese individuals with T2DM who underwent coronary angiography, with leukocyte PARP activity, 16 tag single-nucleotide polymorphisms in and , and 17 CAD risk single-nucleotide polymorphisms analyzed.

MicroRNA-92b acts as an oncogene by targeting PTEN/AKT in NSCLC.

MicroRNAs can act as tumour suppressors or oncogenes by regulating cellular differentiation, proliferation and apoptosis, and the dysregulation of miRNA is involved in the occurrence and development of NSCLC. Here, we provided evidence that miR-92b as an oncogene in NSCLC by targeting PTEN/AKT. We found that miR-92b was up-regulated in human NSCLC tissues and cell lines.

Oridonin induces Mdm2-p60 to promote p53-mediated apoptosis and cell cycle arrest in neuroblastoma.

Oridonin could induce NB (neuroblastoma) cells growth inhibition by inducing apoptosis and cell cycle arrest, and the molecular mechanisms behind the effects deserve to be further explored. Here, oridonin was confirmed to cause the reactivation of p53 (cellular tumor antigen p53) to promote the expression of a series of apoptosis- and cell cycle arrest-related proteins for the biological effects. During the process, oridonin relied on the caspase activation to cleave p53-induced Mdm2 (E3 ubiquitin-protein ligase Mdm2) to generate Mdm2-p60.

Application of commercial cytomegalovirus IgG avidity diagnostic kit.

Background: In the absence of acute clinical manifestation, the diagnosis of cytomegalovirus (CMV) infection is usually done by serology, which has been an important tool in the clinical medicine.

Methods: Many commercial CMV IgG avidity kits are available for identification. We decided to evaluate the Autobio Diagnostics Co.

Time-frequency approach to underdetermined blind source separation.

This paper presents a new time-frequency (TF) underdetermined blind source separation approach based on Wigner-Ville distribution (WVD) and Khatri-Rao product to separate N non-stationary sources from M(M <; N) mixtures. First, an improved method is proposed for estimating the mixing matrix, where the negative value of the auto WVD of the sources is fully considered. Then after extracting all the auto-term TF points, the auto WVD value of the sources at every auto-term TF point can be found out exactly with the proposed approach no matter how many active sources there are as long as N ≤ 2M-1.

Minimum-volume-constrained nonnegative matrix factorization: enhanced ability of learning parts.

Nonnegative matrix factorization (NMF) with minimum-volume-constraint (MVC) is exploited in this paper. Our results show that MVC can actually improve the sparseness of the results of NMF. This sparseness is L(0)-norm oriented and can give desirable results even in very weak sparseness situations, thereby leading to the significantly enhanced ability of learning parts of NMF.

Online blind source separation using incremental nonnegative matrix factorization with volume constraint.

Online blind source separation (BSS) is proposed to overcome the high computational cost problem, which limits the practical applications of traditional batch BSS algorithms. However, the existing online BSS methods are mainly used to separate independent or uncorrelated sources. Recently, nonnegative matrix factorization (NMF) shows great potential to separate the correlative sources, where some constraints are often imposed to overcome the non-uniqueness of the factorization.

Mixing matrix estimation from sparse mixtures with unknown number of sources.

In blind source separation, many methods have been proposed to estimate the mixing matrix by exploiting sparsity. However, they often need to know the source number a priori, which is very inconvenient in practice. In this paper, a new method, namely nonlinear projection and column masking (NPCM), is proposed to estimate the mixing matrix.

Blind spectral unmixing based on sparse nonnegative matrix factorization.

Nonnegative matrix factorization (NMF) is a widely used method for blind spectral unmixing (SU), which aims at obtaining the endmembers and corresponding fractional abundances, knowing only the collected mixing spectral data. It is noted that the abundance may be sparse (i.e.