Exploring the clinical complexity of cardio-facio-cutaneous syndrome: insights from a pediatric case series.

Background: Cardio-Facio-Cutaneous syndrome (CFCS) is a rare autosomal dominant genetic disorder primarily caused by BRAF gene mutations, posing diagnostic challenges due to its multifaceted clinical presentation.

Objective: To elucidate the clinical characteristics of pediatric CFCS patients, expanding the phenotypic spectrum to enhance early diagnostic capabilities, while also presenting the relationship between genotye and corresponding phenotype severity.

Methods: From January 2015 to March 2022, four children diagnosed with CFCS in Children's Hospital of Chongqing Medical University were included for analysis.

Identification of a novel ferroptosis-related gene signature associated with retinal degeneration induced by light damage in mice.

Background: Neurodegenerative retinal diseases such as retinitis pigmentosa are serious disorders that may cause irreversible visual impairment. Ferroptosis is a novel type of programmed cell death, and the involvement of ferroptosis in retinal degeneration is still unclear. This study aimed to investigate the related ferroptosis genes in a mice model of retinal degeneration induced by light damage.

A Novel Modulator of the Renin-Angiotensin System, Benzoylaconitine, Attenuates Hypertension by Targeting ACE/ACE2 in Enhancing Vasodilation and Alleviating Vascular Inflammation.

The monoester alkaloids in , including benzoylaconitine (BAC), benzoylmesaconine, and benzoylhypaconitine, were found to have anti-hypertensive effects in spontaneously hypertension rats (SHRs), of which BAC is the strongest. However, its antihypertensive target and underlying molecular mechanisms remain unclear. In this study, first, we screened the antihypertensive targets of BAC by using the CVDPlatform (www.

Biopharmaceutical and Pharmacokinetic Activities of Oxymatrine Determined by a Sensitive UHPLC-MS/MS Method.

Background: Oxymatrine is known as one of the most promising alkaloids from Sophora flavescens for its excellent pharmacological effects.

Objective: The aim of this research is to assess the biopharmaceutical and pharmacokinetic activities of oxymatrine and clarify its mechanisms of absorption and metabolism.

Methods: The biological characteristics of oxymatrine were systematically investigated by UHPLC-MS/MS.

Establishing the lower limits of total serum testosterone among Chinese proven fertile men who received treatment of assisted reproductive technology.

Testosterone (T) plays a crucial role in spermatogenesis because extremely low levels of intratesticular T lead to correspondingly low serum levels of total T (tT), severe disorders of spermatogenesis, and male sterility. However, there is little consensus on the lower limits of serum tT in proven fertile men undergoing assisted reproductive technology treatments in Chinese or other Asian populations. We aimed to establish the reference range of serum tT based on a population of 868 fertile Chinese men undergoing in vitro fertilization or intracytoplasmic sperm injection and embryo transfer (IVF/ICSI-ET) treatments.

[Limited external fixation of plastic cardboard for the treatment of senile comminuted humeral fracture].

Objective: To explore clinical efficacy of limited external fixation with plastic paperboard in treating senile proximal comminuted humeral fracture.

Methods: From June 2015 to December 2017, 32 senile patients with proximal comminuted fracture of humerus were treated with plasticized cardboard after manual external fixation. Among them, including 13 males and 19 females aged from 55 to 85 years old with an average of(68.

MiR-212-5p exerts a protective effect in chronic obstructive pulmonary disease.

Chronic obstructive pulmonary disease (COPD) is a common respiratory tract disease with an incompletely understood pathogenesis. According to previous reports, miRNAs play a crucial pathophysiological role in COPD. MiR-212 was reported to be downregulated in COPD patients; however, the role of miR-212 in COPD remains unknown.

Application of 3-Dimensional Computerized Tomography Angiography for Defining Cavernous Sinus Aneurysms and Intradural Aneurysms Involving the Internal Carotid Artery Around the Anterior Clinoid Process.

Objective: This study aimed to investigate the application of 3-dimensional computed tomography angiography (3D-CTA) for defining cavernous sinus aneurysms and intradural aneurysms involving the internal carotid artery around the anterior clinoid process.

Methods: Results from 42 patients with an aneurysm of the internal carotid artery around the anterior clinoid process who underwent 3D-CTA were reviewed and compared with those of observed clinical operations.

Results: Among the 42 patients, there was a total of 45 aneurysms of the internal carotid artery around the anterior clinoid process.

Coiling Is Not Superior to Clipping in Patients with High-Grade Aneurysmal Subarachnoid Hemorrhage: Systematic Review and Meta-Analysis.

Background: Outcomes of coiling embolization versus clipping for patients with high-grade aneurysmal subarachnoid hemorrhage (aSAH) have not been previously compared. We reviewed current evidence regarding the safety and efficacy of clipping versus coiling for high-grade aSAH.

Methods: We conducted a meta-analysis of studies that compared clipping with coiling in patients with high-grade aSAH published from January 1999 to February 2016 in Medline, Embase, and Cochrane databases based on PRISMA inclusion and exclusion criteria.

Protective effect of sodium nitroprusside on the rat small intestine transplanted mucosa.

The intestinal mucosal epithelium is extremely susceptible to even brief periods of ischemia. Mucosal barrier damage, which is associated with ischemia/reperfusion (I/R) injury and consequently bacterial translocation, remains a major obstacle for clinically successful small bowel transplantation (SBT). Previous studies have demonstrated a protective effect of nitric oxide (NO) on other transplanted organs and NO mediated intestinal protection has also been reported in vitro.

Rapid detection of Staphylococcus aureus by loop-mediated isothermal amplification.

Staphylococcus aureus, including methicillin-resistant S. aureus (MRSA), is a major bacterial pathogen associated with nosocomial and community-acquired S. aureus infections all over the world.

[Effect of GW003 on the granulocyte macrophage colony formation ability of bone marrow cells in vitro].

The aim of this study was to investigate the effect of GW003 on the ability of granulocyte colony forming in vitro of bone marrow cells. The bone marrow samples was collected from normal rhesus, the patients with leukemia in stages of remission and chemotherapy respectively, and the nucleated cells were separated and cultured for 12 days after addition of different concentrations of GW003 or rhG-CSF, or G-CSF mutant. Then the amount of colony-forming unit-granulocyte-macrophage was counted.

Vascular endothelial growth factor in Coats' disease.

Purpose: To examine whether vascular endothelial growth factor (VEGF) as one of the most important intraocular cytokines for angiogenesis and increased vascular permeability is associated with Coats' disease.

Methods: The clinical interventional study included 28 patients with Coats' disease and seven control patients with congenital cataract. During intraocular surgery, we obtained aqueous humour samples in which the VEGF concentration was measured by double-antibody sandwich enzyme-linked immunosorbent assay (ELISA).

Study of the biological effectiveness of a nanosilver-epidermal growth factor sustained-release carrier.

The aim of the present study was to elucidate the biological effectiveness and character of a nanosilver-epidermal growth factor (EGF) sustained-release carrier. This was synthesized using the self-assembly method and then characterized by transmission electron microscopy and UV spectrophotometry. The biological activity of the sustained release carrier was determined through cytological, bacteriological and wound-healing experiments.

Triamcinolone intravitreal injection and intraocular pressure in macular edema associated with retinal vein occlusion.

Purpose: To study the risk factors of increased intraocular pressure (IOP) response to triamcinolone acetonide intravitreal (IVTA) injection in eyes with macular edema associated with retinal vein occlusion.

Methods: Eighty-nine eyes with macular edema associated with retinal vein occlusion first received periocular injection of 40 mg triamcinolone acetonide (TA) and were followed for one month. According to the diversity of IOP after periocular TA (PTA) injection, they were divided into the elevation IOP group (group A, 26 eyes) and the normal IOP group (group B, 63 eyes).

Hyperglycemic effects of a periocular dexamethasone injection in diabetic patients after vitreoretinal surgery.

Objective: To examine the hyperglycemic effects of periocular dexamethasone injection in type 2 diabetic patients after vitreoretinal surgery (VRS).

Methods: This was a retrospective non-randomized controlled trial. Twenty consecutive hospitalized patients with type 2 diabetes and ocular inflammatory reaction after VRS were enrolled in this study.

Retinoblastoma 94 enhances radiation treatment of esophageal squamous cell carcinoma in vitro and in vivo.

We performed the study to investigate whether adenovirus-mediated retinoblastoma 94 (RB94) gene transfer could enhance radiation treatment of esophageal squamous cell carcinoma (ESCC) in vitro and in vivo. ESCC cells (Kyse150 cell line) were cultivated in vitro and tumors originated from the cell line were propagated as xenografts in nude mice. Treatment with Ad-RB94 and/or ionizing radiation (IR) was carried out both in vitro and in vivo with Ad-LacZ control vector and blank control.

Effects of HepII domain peptides V of fibronectin on corneal permeability, endothelial cells, intraocular pressure and morphology of trabecular meshwork in rats.

Background: Trabecular meshwork (TM) cell volume may be an important determinant of aqueous humor outflow in the eye. This study aimed to evaluate the role of HepII domain peptides V on corneal permeability, corneal endothelial cells, intraocular pressure (IOP) and morphology of trabecular meshwork in rats.

Methods: The IOP of rat eyes was measured before and 3, 5, 7 and 8 hours after topical delivery of HepII domain peptides V through intracameral injections.

Synthesis of a novel magnetic drug delivery system composed of doxorubicin-conjugated Fe3O4 nanoparticle cores and a PEG-functionalized porous silica shell.

Coating a layer of PEG functionalized porous silica shell onto doxorubicin-conjugated Fe(3)O(4) nanoparticles, we demonstrated, provides a number of combined advantages in view of the magnetic carrier's therapeutic functionality to treat tumors.

[Effects of Cd2+ concentration on life table demography of Brachionus calyciflorus under different Scenedesmus obliquus density].

In order to understand the chronic toxicity of a pollutant to an organism in an aquatic environment with different food density, and screen out sensitive endpoints for monitoring Cd2+ pollution with rotifers as test animals, this paper studied the effects of different concentration (2.5, 5.0, 10.

[Experimental study on effects of Heparin II domain of fibronectin on cultured human trabecular meshwork cells].

Objective: To determine the effects of Heparin II (Hep II) domain on cultured human trabecular meshwork (HTM) cells.

Methods: HTM cells were cultured and treated with Hep II domain for 18 and 24 h. The morphological changes in HTM cells were assessed by light and electron microscopy.

Programmed cell death 1 gene polymorphisms is associated with ankylosing spondylitis in Chinese Han population.

Programmed cell death 1 (PD-1) has been reported to have a genetic association in several autoimmune diseases. The aim of this study was to investigate the association of PD-1 polymorphisms and haplotypes with ankylosing spondylitis (AS) in Chinese Han population. In a case-control association study, three single-nucleotide polymorphisms (SNP), PD-1.

Penetrability of interleukin-1beta and its effect on the concentration of tumor necrosis factor-alpha and interleukin-6 in the aqueous humor of rabbits treated with interleukin-1beta.

Background: Interleukin (IL)-1beta may effectively decrease introcular pressure (IOP) when administered by subconjunctival injection in normal rabbit. However, IL-1beta is a large molecular agent and an inflammation factor. The aim of this study was to evaluate the penetrability of IL-1beta, and the concentrations of both tumor necrosis factor (TNF)-alpha and IL-6 in the aqueous humor of normal rabbits treated with IL-1beta.