Clinical and genetic findings in Chinese families with congenital ectopia lentis.

Background: Congenital ectopia lentis (EL) refers to the congenital dysplasia or weakness of the lens suspensory ligament, resulting in an abnormal position of the crystalline lens, which can appear as isolated EL or as an ocular manifestation of a syndrome, such as the Marfan syndrome. The fibrillin-1 protein encoded by the FBN1 gene is an essential component of the lens zonules. Mutations in FBN1 are the leading causes of congenital EL and Marfan syndrome.

Combination therapy with oncolytic viruses and immune checkpoint inhibitors in head and neck squamous cell carcinomas: an approach of complementary advantages.

Squamous cell carcinomas are the most common head and neck malignancies. Significant progress has been made in standard therapeutic methods combining surgery, radiation, and chemotherapy. Nevertheless, the 5-year survival rate remains at 40-50%.

Quality of Life and Functional Outcomes After Intersphincteric Resection for Ultralow Rectal Cancer: A Prospective Observational Study.

Background: Intersphincteric resection is the ultimate sphincter-preserving surgical technique for ultralow rectal cancer, but quality-of-life changes after surgery remain unclear. It is also unknown which questionnaire has better associations with functional results for capturing clinical variation in quality of life.

Objective: This study aimed to assess change in the quality of life and its correlation with functional outcomes among patients undergoing intersphincteric resection for ultralow rectal cancer.

Age-specific reference values for low psoas muscle index at the L3 vertebra level in healthy populations: A multicenter study.

Background And Aims: The progressive and generalized loss of skeletal muscle mass, strength and physical function is defined as sarcopenia. Sarcopenia is closely related to the prognosis of patients. Accurate diagnosis and adequate management of sarcopenia are crucial.

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.

Pathogenic variants in MYO15A are known to cause autosomal recessive nonsyndromic hearing loss (ARNSHL), DFNB3. We have previously reported on one ARNSHL family including two affected siblings and identified MYO15A c.5964+3G > A and c.

A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.

Background: Myhre syndrome is a rare multisystem genetic disorder that is caused by de novo heterozygous gain-of-function variants in SMAD4. Patients with Myhre syndrome exhibit several phenotypes at different ages such as small size, autism, developmental delay, left-sided heart defects, and hearing loss and often have a characteristic facial appearance. The early clinical diagnosis of Myhre syndrome remains a major challenge, particularly in the first year of life.

Application of imaging techniques in pancreaticobiliary maljunction.

Imaging techniques are useful tools in the diagnosis and treatment of pancreaticobiliary maljunction (PBM). PBM is a precancerous lesion often relative to the disease of the pancreas and biliary tract, for example, cholecystolithiasis, protein plugs, and pancreatitis. For patients with PBM, early diagnosis and timely treatment are highly important, which is largely dependent on imaging techniques.

Prediction model of early biomarkers of massive cerebral infarction caused by anterior circulation occlusion: Establishment and evaluation.

Objective: The purpose of this study is to establish and evaluate an early biomarker prediction model of massive cerebral infarction caused by anterior circulation occlusion.

Methods: One hundred thirty-four patients with acute cerebral infarction from January 2018 to October 2020 were selected to establish the development cohort for the internal test of the nomogram. Ninety-one patients with acute cerebral infarction hospitalized in our hospital from December 2020 to December 2021 were constituted the validation cohort for the external validation.

USP17L2-SIRT7 axis regulates DNA damage repair and chemoresistance in breast cancer cells.

Purpose: Sirtuin7 (SIRT7), as a member of the sirtuin and NAD-dependent protein-modifying enzyme family, plays an important role in regulating cellular metabolism, stress responses, tumorigenesis, and aging. Ubiquitination and deubiquitination are reversible post-translational modifications that regulate protein stability, enzyme activity, protein-protein interactions, and cellular signaling transduction. However, whether SIRT7 is regulated by deubiquitination signaling is unclear.

The Protective Effects of Apigenin Against Radiation-Induced Intestinal Injury.

Radiation-induced intestinal injury (RIII) restricts the therapeutic efficacy of radiotherapy in abdominal or pelvic malignancies. Also, intestinal injury is a major cause of death following exposure to high doses of radiation in nuclear accidents. No safe and effective prophylactics or therapeutics for RIII are currently available.

Effects of Different Types of Early Restrictive Fluid Resuscitation on Immune Function and Multiorgan Damage on Hemorrhagic Shock Rat Model in a Hypothermic Environment.

Objective: This study was aimed at investigating the effects of different types of fluid restriction fluid resuscitation on the immune dysfunction and organ injury of hemorrhagic shock rats under a hypothermic environment.

Methods: SD rats were divided into sham operation group (SHAM), hemorrhagic shock model group (HS), crystal liquid limited resuscitation group (CRLLR), colloidal liquid limited resuscitation group (COLLR), and nonlimited resuscitation group (NLR); rats in each group were placed in a low-temperature environment of 0-5°C for 30 min, and then, a hemorrhagic shock rat model was prepared. Sodium lactate Ringer's restricted resuscitation solution, hydroxyethyl starch restricted resuscitation solution, and hydroxyethyl starch were used for resuscitation, and hemodynamic examination was performed.

Legacy and alternative flame retardants in indoor dust from e-waste industrial parks and adjacent residential houses in South China: Variations, sources, and health implications.

Many studies have elucidated health concerns of informal e-waste recycling activities, yet few has evaluated the effectiveness of the regulations as well as the human exposure risks to adjacent residents. Herein, legacy polybrominated diphenyl ethers (PBDEs), hexabromocyclododecane (HBCDs), and alternative organophosphate esters (OPEs) were investigated in indoor dust collected from three e-waste industrial parks and five adjacent villages located in south China. The levels and composition patterns varied significantly between workshop and home dust.

Dimethyl Sulfoxide Attenuates Radiation-Induced Testicular Injury through Facilitating DNA Double-Strand Break Repair.

The testis is susceptible to ionizing radiation, and male infertility and sexual dysfunction are prevalent problems after whole-body or local radiation exposure. Currently, there is no approved agent for the prevention or treatment of radiation-induced testicular injury. Herein, we investigated the radioprotective effect of dimethyl sulfoxide (DMSO), an organosulfur compound that acts as a free radical scavenger, on testicular injury.

Comparative analysis of loop-mediated isothermal amplification combined with microfluidic chip technology and q-PCR in the detection of clinical infectious pathogens.

Background: Rapid diagnosis of infectious pathogens at an early stage is crucial to stabilize the patient's condition, reduce medical costs, and shorten hospital stays. Currently, some point-of-care tests have their own shortcomings. Therefore, we built a microfluidic chip based on loop-mediated isothermal amplification to can quickly and sensitively detect infectious pathogens.

The effect of laryngopharyngeal reflux on arousal in patients with obstructive sleep apnea.

Background: Laryngopharyngeal reflux (LPR) may be associated with the severity of obstructive sleep apnea (OSA). However, it is unknown whether LPR may be associated with arousal.

Objective: To clarify the effect of LPR on arousal in OSA.

The hydrogen storage nanomaterial MgH improves irradiation-induced male fertility impairment by suppressing oxidative stress.

Objective: This study aimed to reveal the protective effect of hydrogen storage nanomaterial MgH on radiation-induced male fertility impairment.

Methods: The characterization of MgH were analyzed by scanning electron microscopy (SEM) and particle size analyzer. The safety of MgH were evaluated in vivo and in vitro.

Dopamine-derived nanoparticles for the protection of irradiation-induced intestinal injury by maintaining intestinal homeostasis.

Radiotherapy of abdominal and pelvic tumors almost inevitably injures the intestine by oxidative stress and causes inflammation. Regrettably, traditional radioprotective agents for irradiation (IR) induced intestinal injury suffer from challenges such as poor solubility, unsatisfactory bioactivity and undesired adverse reactions, which significantly limit their usefulness. Polydopamine nanoparticles (PDA-NPs) have shown promising potential in scavenging reactive oxygen species (ROS) and suppressing inflammation.

Assessing Visceral Obesity and Abdominal Adipose Tissue Distribution in Healthy Populations Based on Computed Tomography: A Large Multicenter Cross-Sectional Study.

Objective: Abdominal adipose is closely related to many endocrine and metabolic diseases. The aim of this study was to analyze the distribution of abdominal adipose tissue in a healthy population in northern China determined by abdominal computed tomography (CT).

Methods: Data for this study were obtained from a multicenter, retrospective, cross-sectional study that collected abdominal CT scans of 1787 healthy individuals from 4 representative cities in northern China.

Disulfiram Protects Against Radiation-Induced Intestinal Injury in Mice.

Radiation-induced intestinal injury (RIII) occurs after high doses of radiation exposure. RIII restricts the therapeutic efficacy of radiotherapy in cancer and increases morbidity and mortality in nuclear disasters. Currently, there is no approved agent for the prevention or treatment of RIII.

The Prognostic Value and Immune Infiltration of USP10 in Pan-Cancer: A Potential Therapeutic Target.

Ubiquitin-specific peptidase 10 (USP10) can sustain cellular functions and regulate cellular processes. It plays an essential role in cancer inhibition or facilitation by reversing ubiquitin-proteasome degradation. Studies have identified USP10 to be involved in tumor progression in various cancers.

Ultrasound-targeted microbubbles destruction assists dual delivery of beta-amyloid antibody and neural stem cells to restore neural function in transgenic mice of Alzheimer's disease.

Objectives: To explore the feasibility, efficacy, and safety of ultrasound-targeted microbubbles destruction (UTMD) assisted dual delivery of beta-amyloid (Aβ) antibody loaded by microbubbles (MB ) and neural stem cells (NSCs) on Alzheimer's disease (AD).

Methods: Twenty-seven APP/PS1 double transgenic mice (Tg mice) and 33 wild-type mice were used. Wild-type mice were insonated by diagnostic ultrasound with microbubbles (MB) for 5 min to observe the blood brain barrier (BBB) opening.

Defining reference values for low skeletal muscle index at the L3 vertebra level based on computed tomography in healthy adults: A multicentre study.

Background & Aims: Skeletal muscle mass loss is an important aspect of malnutrition and is closely related to adverse clinical outcomes. Computed tomography (CT) is the gold standard for analysing muscle mass, and the skeletal muscle index at the third lumbar vertebra (L3-SMI), measured using CT, is an important indicator to evaluate total skeletal tissue. The aims of this study were to establish reference values for low L3-SMI in Northern China, and to investigate the correlation between L3-SMI and age, and the correlation between L3-SMI and body mass index (BMI).

Measurement of Lingual Artery Using Ultrasound Versus Computed Tomography Angiography for Midline Glossectomy in Patients With Obstructive Sleep Apnea.

Objective: To clarify the differences in assessing the course of the lingual artery between lingual artery computed tomography angiography (CTA) and ultrasound (US).

Methods: Twenty-six OSA patients were included in this study and accomplished lingual artery CTA and US, respectively. The differences in the depths of the lingual arteries and the distances between the bilateral lingual arteries on 3 measurement levels based on lingual artery CTA and US were compared.

A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.

Mutations in the Forkhead Box C1 (FOXC1) are known to cause autosomal dominant hereditary Axenfeld-Rieger syndrome, which is a genetic disorder characterized by ocular and systemic features including glaucoma, variable dental defects, craniofacial dysmorphism and hearing loss. Due to late-onset of ocular disorders and lack of typical presentation, clinical diagnosis presents a huge challenge. In this study, we described a pathogenic in-frame variant in FOXC1 in one 5-year-old boy who is presented with hypertelorism, pupil deformation in both eyes, conductive hearing loss, and dental defects.