Impact of pressure support ventilation duration after a spontaneous breathing trial on reintubation rates in critically ill subjects: a retrospective study.

Background: To investigate the effect of different durations of pressure support ventilation (PSV) after a spontaneous breathing trial (SBT) on 48-hour reintubation rates in critically ill subjects.

Methods: This single-center retrospective cohort study included adult subjects who received mechanical ventilation for over 48 h, successfully completed SBT, and were scheduled for extubation in the intensive care unit of a tertiary hospital between January and December 2023. Subjects were divided into three groups based on PSV duration after SBT: direct extubation (DE, ≤ 30 min), short-term PSV (SP, 30 min-3 h), and long-term PSV (LP, 3-12 h).

Effectiveness of ultrasound-guided versus anatomical landmark-guided percutaneous dilatational tracheostomy: a systematic review and meta-analysis.

Background: Percutaneous dilatational tracheostomy (PDT) is increasingly used in intensive care units owing to its advantages of reduced surgical trauma and fewer complications. Recently, ultrasonography has become a potentially useful tool for assisting PDT.

Objective: To compare ultrasound- and landmark-guided PDT for major bleeding, first-puncture success rates, periprocedural complications, and tracheotomy procedure times.

Overexpression of methionine sulfoxide reductase A alleviates acrylamide-induced neurotoxicity by mitigating lipid peroxidation and mitochondria-dependent apoptosis In vivo and In vitro.

Acrylamide (ACR) has garnered significant attention due to its neurotoxic effects. Oxidative stress, a key mechanism underlying ACR-induced neurotoxicity, is well-documented. Methionine sulfoxide reductase A (MsrA) plays a pivotal role in protecting various types of cells, including neuronal cells, against the effects of oxidative stress.

Comparative analysis of open and closed tracheal suction systems on mechanical ventilation efficiency in adults: A systematic review and meta-analysis.

Background: There are two types of suction methods used clinically: closed tracheal suction system (CTSS) and open tracheal suction system (OTSS). However, the safety and efficacy of these two suction systems for patients remain to be analysed.

Objective: The objective of this study was to assess the safety and efficacy of OTSSs and CTSSs in adult mechanical ventilation.

Discovery of Orally Bioavailable and Potent CDK9 Inhibitors for Targeting Transcription Regulation in Triple-Negative Breast Cancer.

Triple-negative breast cancer (TNBC) represents a highly aggressive and heterogeneous malignancy. Currently, effective therapies for TNBC are very limited and remain a significant unmet clinical need. Targeting the transcription-regulating cyclin-dependent kinase 9 (CDK9) has emerged as a promising avenue for therapeutic treatment of TNBC.

Preliminary Study on Clinical Characteristics and Pathogenesis of Mutations Patients.

Background: The IQ motif and Sec7 domain ArfGEF 2 (), an X-linked gene that encodes the BRAG1 protein, is a guanine nucleotide exchange factor for the ADP ribosylation factor (ARF) protein family in the small guanosine triphosphate (GTP) binding protein. Mutations in this gene result in disorders such as intellectual disability (ID) and epilepsy. In this study, we analyze the clinical features of two patients with -mutation-related disease and discuss their possible pathogenesis.

Clinical characteristics and identification of novel variants in three unrelated Chinese families with Vissers-Bodmer Syndrome.

Vissers-Bodmer Syndrome, an autosomal dominant disease, is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, hypotonia and autistic features with a highly variable phenotype. It is caused by variants in the CCR4-NOT transcription complex, subunit 1 gene (). However, the pathophysiologic mechanism of the Vissers-Bodmer Syndrome remains unclear.

Segawa syndrome caused by gene mutation and its mechanism.

Dopa-responsive dystonia (DRD), also known as Segawa syndrome, is a rare neurotransmitter disease. The decrease in dopamine caused by tyrosine hydroxylase () gene mutation may lead to dystonia, tremor and severe encephalopathy in children. Although the disease caused by recessive genetic mutation of the tyrosine hydroxylase () gene is rare, we found that the clinical manifestations of seven children with gene mutations are similar to dopa-responsive dystonia.

Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.

Background: Proline-rich transmembrane protein 2 (PRRT2) plays an important role in the central nervous system and mutations in the gene are implicated in a variety of neurological disorders. This study aimed to summarize the clinical characteristics and gene expression analysis of neurological diseases related to the gene and explore the clinical characteristics, therapeutic effects, and possible pathogenic mechanisms of related diseases.

Methods: We enrolled 10 children with mutation-related neurological diseases who visited the Children's Hospital affiliated with the Shanghai Jiaotong University School of Medicine/Shanghai Children's Hospital between May 2017 and February 2022.

Clinical characteristics and prognosis of pediatric myelin oligodendrocyte glycoprotein antibody-associated diseases in China.

Background: Research on myelin oligodendrocyte glycoprotein antibody (MOG-Ab)-associated disease (MOGAD) among Chinese children is relatively rare. Therefore, this study aimed to explore and analyze the clinical characteristics and prognoses of Chinese children with acquired demyelinating syndromes (ADSs) who tested positive or negative for MOG-Ab.

Methods: The clinical data of children with MOGAD who were treated in the Department of Neurology at Shanghai Children's Hospital from January 2017 to October 2021 were retrospectively collected.

Identification of ST3GAL5 as a prognostic biomarker correlating with CD8 T cell exhaustion in clear cell renal cell carcinoma.

Aberrant sialylation is frequently observed in tumor development, but which sialyltransferases are involved in this event are not well known. Herein, we performed comprehensive analyses on six ST3GAL family members, the α-2,3 sialyltransferases, in clear cell renal cell carcinoma (ccRCC) from public datasets. Only ST3GAL5 was consistently and significantly overexpressed in ccRCC (n = 791 in total), compared with normal kidney tissues.

Comprehensive landscape of the ST3GAL family reveals the significance of ST3GAL6-AS1/ST3GAL6 axis on EGFR signaling in lung adenocarcinoma cell invasion.

Sialylation aberration has been implicated in lung cancer development by altering signaling pathways. Hence, it is urgent to identify key sialyltransferases in the development of lung adenocarcinoma (LUAD), which is a common malignant subtype of non-small cell lung cancer. Herein, by systematically investigating the expression levels of ST3GAL family members in several public databases, we consistently found the frequent downregulation of ST3GAL6 in LUAD samples.

The Study on the Clinical Phenotype and Function of HPRT1 Gene.

Lesch-Nyhan disease (LND) is a rare x-linked purine metabolic neurogenetic disease caused by enzyme hypoxanthine-guanine phosphoriribosyltransferase(HGprt) deficiency, also known as self-destructive appearance syndrome. A series of manifestations are caused by abnormal purine metabolism. The typical clinical manifestations are hyperuricemia, growth retardation, mental retardation, short stature, dance-like athetosis, aggressive behavior, and compulsive self-harm.

Correlation Between Tic Disorders and Serum 25-Hydroxyvitamin D Levels in Chinese Children.

Objective: To explore the correlation between serum 25-hydroxyvitamin D levels and tic disorders (TDs) in Chinese children.

Methods: We selected 2960 children with TD and 2665 healthy controls, aged 5-14 years, from the Department of Neurology of the Shanghai Children's Hospital. Serum 25-hydroxyvitamin D levels and degrees of vitamin D deficiency were compared between patients with TD and healthy children.

Induced pluripotent stem cells (SHCDNi006-A cells) isolated from the peripheral blood mononuclear cells of a five-month-old Chinese girl with the heterozygous missense mutation (c.2800 G>A) in the KCNT1 gene.

Epilepsy of infancy with migrating focal seizures (EIMFS) is a kind of epileptic encephalopathy with high genetic heterogeneity. The most common pathogenic gene for EIMFS is potassium sodium-activated channel subfamily T member 1 (KCNT1). Using Sendai virus-mediated reprogramming, we established an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells (PBMCs) of a five-month-old Chinese girl with heterozygous missense mutation (c.

Clinical Study of 8 Cases of Gene Mutation-Related Neurological Diseases and Their Mechanisms.

The chromodomain helicase DNA-binding protein 2 () gene, is an ATPase and part of the family of chromatin remodelers. Mutations in the gene are inherited in an autosomal-dominant manner and can lead to intellectual disability, epilepsy, and autism. We investigated the clinical characteristics of -related conditions and their possible pathogenesis.

Generation of an induced pluripotent stem cell line from an Ohtahara syndrome patient with the hemizygous mutation p.Q503Afs*28 (c.1507_1508del) in the ARX gene.

Aristaless-related homeobox (ARX)-related disorders are recessive X-linked intellectual disability disorders. We encountered a patient with a hemizygous mutation (c.1507_1508del) showing intellectual disability, early-onset epileptic encephalopathy and Ohtahara syndrome.

Mechanisms of Congenital Myasthenia Caused by Three Mutations in the Gene.

The gene encoding collagen like tail subunit of asymmetric acetylcholinesterase (COLQ) is responsible for the transcription of three strands of collagen of acetylcholinesterase, which is attached to the endplate of neuromuscular junctions. Mutations in the gene are inherited in an autosomal-recessive manner and can lead to type V congenital myasthenia syndrome (CMS), which manifests as decreased muscle strength at birth or shortly after birth, respiratory failure, restricted eye movements, drooping of eyelids, and difficulty swallowing. Here we reported three variants within in two unrelated children with CMS.

Very long chain acylcarnitines and lysophosphatidylcholines in screening of peroxisomal disease in children by tandem mass spectrometry.

To investigate the value of very long chain acylcarnitine (VLCAC) and lysophosphatidylcholine (LPC) in screening of peroxisomal disease in children. Eighteen children with peroxisomal disease, including 14 cases of X-linked adrenoleukodystrophy (X-ALD group) and 4 cases of Zellweger syndrome (ZS group) diagnosed based on clinical symptoms, MRI and genetic tests were enrolled in the study; and 200 healthy children were selected as control group. Samples of dried blood spots were collected from all subjects, VLCAC and LPC in dried blood spots were extracted by solvent containing internal isotopic standards hexacosanoylcarnitine (H-C26) and C26:0 lysophosphatidylcholine (H-C26:0-LPC).

Efficacy of Oxidized Regenerated Cellulose/Collagen Dressing for Management of Skin Wounds: A Systematic Review and Meta-Analysis.

Objective: The purpose of this study was to evaluate the wound healing efficacy of oxidized regenerated cellulose (ORC)/collagen dressing and ORC/collagen/silver-ORC dressings compared to standard of care or control in treatment of chronic skin wounds such as diabetic foot ulcers (DFUs), venous leg ulcers (VLUs), and pressure injuries sore ulcers (PISUs).

Methods: An electronic search was carried out in four popular databases PubMed, Scopus, Embase, and CENTRAL to identify thirteen included studies, comparing the clinical efficacy of ORC/collagen dressings when compared to control in management of chronic skin wounds, especially DFUs, VLUs, and PISUs, and skin graft donor site wounds.

Results: Consolidated data from thirteen comparative clinical studies undertaken for management of DFUs, VLUs, and PISUs showed favorable outcomes towards use of ORC/collagen compared to other traditional and hydrocolloid foam dressings in terms of wound healing rate (=0.

Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome.

Objective Alström syndrome is an autosomal recessive genetic disease caused by a mutation in the ALMS1 gene. Alström syndrome is clinically characterized by multisystem involvement, including sensorineural deafness, cone-rod dystrophy, nystagmus, obesity, insulin resistance, type 2 diabetes and hypogonadism. The diagnosis is thus challenging for patients without this characteristic set of clinical symptoms.

Generation and characterization of the induced pluripotent stem cell line SHCDNi004-A from a ten-year-old Chinese boy with X-linked mental retardation in IL1RAPL1 deficiency.

Mental retardation, X-linked 21/34 (MRX21/34), is a rare intellectual disability disease caused by mutations in the IL1RAPL1 (Interleukin-1 Receptor Accessory Protein-Like 1) gene. Using Sendai virus-mediated reprogramming, we established an induced pluripotent stem cell (iPSC) line from PBMCs collected from a ten-year-old boy with MRX21/34. The iPSCs showed stable amplification, expressed pluripotent genes, displayed a normal karyotype, and had characteristics of trilineage differentiation potential in an in vitro differentiation assay.

Generation of an induced pluripotent stem cell line (SHCDNi003-A) from a one-year-old Chinese Han infant with Allan-Herndon-Dudley syndrome.

Allan-Herndon-Dudley syndrome (AHDS) is a rare, X-chromosome-linked inherited disorder that affects brain development and is caused by a mutation in SLC16A2. Herein, we generated an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells of a one-year-old male infant with AHDS using Sendai-virus-mediated reprogramming. These iPSCs exhibited stable amplification, expressed pluripotent markers, and differentiated spontaneously into three germ layers in vitro.