Notes

[Treatment with regard to myelodysplastic syndromes and upcoming perspectives inside the genomic era].
Head and neck squamous cell carcinoma (HNSCC) is a malignant tumor with relative low survival rate. SGC-CBP30 clinical trial Increasingly evidences have emphasized the importance of autophagy in cancer initiation, progression, and the responses to cancer treatment.

This study aimed to investigate the potential biological and prognostic significance of autophagy-related genes (ARGs) in HNSCC patients.

We collected a list of ARGs from Human Autophagy Database and obtained expression profiles and clinical information of HNSCC samples from the Cancer Genome Atlas (TCGA) portal. Differential expression analysis and functional enrichment analysis were performed by R software. The prognostic value of differentially expressed ARGs was detected by Cox regression analysis and prognosis-related ARGs were subjected to LASSO regression analysis. Univariate and multivariate Cox regression analysis were applied to identify promising independent prognosticators for HNSCC.

A total of 35 differentially expressed ARGs were screened out and functional enrichment analysis results indicated these genes were mainly associated with autophagy-related biological processes and pathways. Seven prognosis-related ARGs (ITGA3, CDKN2A, FADD, NKX2-3, BAK1, CXCR4, and HSPB8) were selected to construct a risk signature, which proved to be effective in predicting the survival rate of HNSCC patients. Moreover, univariate analysis showed risk score, tumor stage, T stage, and N stage were negatively correlated with patient overall survival and the multivariate Cox regression analysis results indicated risk score, age, and N stage was significantly associated with patient prognosis.

Our findings may provide novel evidences for the diagnosis and prognosis evaluation for HNSCC.
Our findings may provide novel evidences for the diagnosis and prognosis evaluation for HNSCC.
Combined oxidative phosphorylation deficiency 35 (COXPD 35) is a very rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in the TRIT1 gene on chromosome 1p34. Only six cases of COXPD 35 and six allelic variants of TRIT1 gene mutations have been reported worldwide.

We describe two siblings who presented with similar clinical features including severe intellectual disability and epilepsy with onset of symptom in early infancy.

The whole exome sequencing results revealed a compound heterozygous novel variant, c.979G>A (p.Glu327Lys) and c.682+2T>C, on TRIT1 exon 8 and intron 5, respectively, which was confirmed by Sanger sequencing. Protein structure analysis revealed that the p.Glu327Lys variant disrupts the conformation and electrostatic charge of the zinc-finger motif in the tRNA isopentenyltransferase (IPT), impairing binding of the mutant IPT to specific DNA sequences.

This is the first report of two Korean siblings with COXPD 35 with two novel variants in TRIT1. This study will help to understand the various phenotypic spectra in patients with COXPD 35 and to expand knowledge on the mechanisms of the disease based on genetic features.
This is the first report of two Korean siblings with COXPD 35 with two novel variants in TRIT1. This study will help to understand the various phenotypic spectra in patients with COXPD 35 and to expand knowledge on the mechanisms of the disease based on genetic features.
Emergency departments (EDs) need to be prepared to manage crises and disasters in both the short term and the long term. The coronavirus disease 2019 (COVID-19) pandemic has necessitated a rapid overhaul of several aspects of ED operations in preparation for a sustained response.

We present the management of the COVID-19 crisis in 3 EDs (1 large academic site and 2 community sites) within the same health care system.

Aspects of ED throughput, including patient screening, patient room placement, and disposition are reviewed, along with departmental communication procedures and staffing models. Visitor policies are also discussed. Special considerations are given to airway management and the care of psychiatric patients. Brief guidance around the use of personal protective equipment is also included.

A crisis like the COVID-19 pandemic requires careful planning to facilitate urgent restructuring of many aspects of an ED. By sharing our departments' responses to the COVID-19 pandemic, we hope other departments can better prepare for this crisis and the next.
A crisis like the COVID-19 pandemic requires careful planning to facilitate urgent restructuring of many aspects of an ED. By sharing our departments' responses to the COVID-19 pandemic, we hope other departments can better prepare for this crisis and the next.Classically, history of prior abdominal liposuction has been considered a relative contraindication for breast reconstruction using deep inferior epigastric perforator (DIEP) flap. The rationale for this is based on the fact that liposuction can possibly damage perforating vessels, which could compromise flap survival. However, multiple recently published reports have shown that imaging using CT angiography or colour Duplex ultrasonography could be used to accurately assess the adequacy of the perforating vessels before DIEP flap harvest. This contraindication is currently being reconsidered in the scientific literature. We present a case of partial DIEP flap loss in a patient with history of abdominal liposuction that happened despite preoperative identification of adequate perforators using CT angiography and intraoperative clear evidence of patent anastomoses. This occurrence reopens in our view the question of whether DIEP flaps can be safely performed on patients with a history of abdominal liposuction, even in the presence of adequate perforators on regular CT angiography or Doppler ultrasonography. While abdominal liposuction may not injure perforating vessels, its detrimental effect on linking micro-vessels within the flap cannot be fully evaluated using CT Angiography. Therefore, the use of another imaging modality, such as the indocyanine green laser angiography, to assess perfusion before DIEP flap harvesting is performed and could be considered in patients with history of abdominal liposuction.
Website: https://www.selleckchem.com/products/sgc-cbp30.html