Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths.

Purpose: Severe combined immunodeficiency (SCID) is a set of rare monogenic inherited diseases that together represent the most severe form of the primary immunodeficiency disease phenotype. Preimplantation genetic testing for monogenic defects (PGT-M) is an effective reproductive technology strategy to prevent disease-causing gene mutations from being transmitted to offspring. The aim of this study was to report the use of PGT-M strategy based on karyomapping in four families to avoid the birth of SCID children.

Association between overt hepatic encephalopathy and liver pathology after transjugular intrahepatic portosystemic shunt creation in cirrhotic patients.

To investigate the association between overt hepatic encephalopathy (OHE) and liver pathology after transjugular intrahepatic portosystemic shunt (TIPS) creation in cirrhotic patients. From July 2015 to April 2024, 73 patients from 4 hospitals in China who received TIPS creation and liver biopsy were retrospectively enrolled in this study. Based on whether OHE occurred within 3 months after TIPS creation, the patients were categorized into OHE (n = 29) and non-OHE (n = 44) groups.

Efficacy of laparoscopic cardiectomy combined with side overlap anastomosis for the treatment of terminal achalasia.

To investigate the safety and short-term effectiveness of laparoscopic-assisted cardiectomy with side-overlap esophagogastric reconstruction for the treatment of terminal or end-stage achalasia, patients with end-stage achalasia treated with laparoscopic-assisted cardiectomy with side-overlap esophagogastric reconstruction were retrospectively enrolled. The clinical data, surgical data and follow-up were analyzed. Among twenty-five patients enrolled, the achalasia type St was present in 12 (48%) patients, type Sg in 9 (36%), and type aSg in 4 (16%).

A retrospective cohort study of the application of Santulli enterostomy in neonatal necrotizing enterocolitis.

The use of Santulli enterostomy (SE) for necrotizing enterocolitis (NEC) has been limited to a small number of studies involving a small number of patients and no control group. Our study aimed to compare the clinical safety and efficacy of Santulli enterostomy with those of single- or double-lumen enterostomy for neonatal NEC through a retrospective cohort study. One hundred ten patients who met the criteria were divided into an SE group (64 patients) and a conventional enterostomy (CE) group (46 patients).

Childhood hand, foot and mouth disease sequelae cohort study in Henan, China: cohort profile.

Purpose: The childhood hand, foot and mouth disease (HFMD) sequelae cohort study (HNHFMDCS) is an ambispective cohort study of patients with HFMD based in Henan Province, China, consisting of patients treated in a key hospital for the diagnosis and treatment of HFMD in Henan Province. The study aims to investigate the long-term sequelae of HFMD survivors and to provide a comprehensive understanding of the potential harm caused by this infectious disease.

Participants: In the retrospective phase of the cohort study, children diagnosed with HFMD from January 2014 to January 2023 were included, and clinical and demographic information about the patients was collected through a self-developed questionnaire.

Gaps in knowledge and management of iron deficiency in heart failure: a nationwide survey of cardiologists in China.

Background: Heart failure (HF) guidelines recommend routine testing for iron deficiency (ID) and, for those with ID, intravenous iron if the left ventricular ejection fraction is <50%. Guideline adherence to these recommendations by cardiologists in China is unknown.

Methods And Results: An independent academic web-based survey was designed and distributed via social networks to cardiologists across China.

Enzyme-crosslinked hyaluronic acid hydrogel scaffolds for BMSCs microenvironment and wound healing.

Tissue engineering utilizing hydrogel scaffolds in combination with exogenous stem cells holds significant potential for promoting wound regeneration. However, the microenvironment provided by existing skin tissue engineering scaffold materials is often inadequate. Herein, we demonstrate an enzyme-crosslinked hyaluronic acid hydrogel to provide a growth microenvironment for exogenous bone marrow mesenchymal stem cells and promote acute wound healing.

Hydroxypropyl methylcellulose remove dense water droplets during fluid-air exchange on the posterior surface of intraocular lenses with posterior capsule loss.

Purpose: The research investigates the efficacy of hydroxypropyl methylcellulose (HPMC) treatment in facilitating the development of compact water droplets on the rear surface of synthetic lenses with capsule imperfections during the process of fluid-air exchange.

Method: This study examined four patients with intraocular lens (IOL) implants and posterior capsule defects who experienced the formation of dense water droplets on the posterior surface following fluid-air exchange. When this occurrence obstructs fundus visualization during surgery, it is recommended to suspend the surgical procedure.

Related factors and safety of reaching the therapeutic target of warfarin after heart valve surgery in hospitalized patients: A retrospective cohort study.

Warfarin is a commonly employed anticoagulant drug aimed at rapidly reaching the optimal international normalized ratio (INR), potentially reducing the hospitalization time in clinical settings. However, limited research has been conducted on the influencing factors and the safety implications of promptly reaching the target INR range in patients with valvular heart disease who have undergone valve replacement or repair. The present study aimed to assess the factors related to the safety considerations of rapidly reaching the target INR range in patients treated with warfarin.

Predicting 28-day all-cause mortality in patients admitted to intensive care units with pre-existing chronic heart failure using the stress hyperglycemia ratio: a machine learning-driven retrospective cohort analysis.

Chronic heart failure (CHF) poses a significant threat to human health. The stress hyperglycemia ratio (SHR) is a novel metric for accurately assessing stress hyperglycemia, which has been correlated with adverse outcomes in various major diseases. However, it remains unclear whether SHR is associated with 28-day mortality in patients with pre-existing CHF who were admitted to intensive care units (ICUs).

The impact of vaccine access difficulties on HPV vaccine intention and uptake among female university students in China.

Background: Ensuring vaccine access is a prerequisite for promoting human papilloma virus (HPV) vaccination. Although HPV vaccination efforts in China have primarily focused on young females, little research has examined the difficulties they face in accessing the HPV vaccine and its impact on vaccine uptake and intention. This study analyzed the overall perception of access difficulties to HPV vaccines, as well as three specific vaccine access difficulties, and examined their influencing factors among female university students in China.

Subgroups of cognitive impairments in schizophrenia characterized by executive function and their morphological features: a latent profile analysis study.

Background: The heterogeneity of cognitive impairments in schizophrenia has been widely observed. However, reliable cognitive boundaries to differentiate the subgroups remain elusive. The key challenge for cognitive subtyping is applying an integrated and standardized cognitive assessment and understanding the subgroup-specific neurobiological mechanisms.

Tryptophan metabolism-related gene CYP1B1 serves as a shared biomarker for both Parkinson's disease and insomnia.

Parkinson's disease (PD) and insomnia are prevalent neurological disorders, with emerging evidence implicating tryptophan (TRP) metabolism in their pathogenesis. However, the precise mechanisms by which TRP metabolism contributes to these conditions remain insufficiently elucidated. This study explores shared tryptophan metabolism-related genes (TMRGs) and molecular mechanisms underlying PD and insomnia, aiming to provide insights into their shared pathogenesis.

OTUD4-mediated inhibition of YAP1 signaling pathway in ovarian cancer: Implications for macrophage polarization and recruitment.

Ovarian cancer is a malignancy gynecologic oncology with high incidence and high mortality rate. M2-like tumor-associated macrophages promote cancer cell migration and metastasis. Ovarian tumor family deubiquitinase 4 (OTUD4) belongs to deubiquitinating enzyme family.

Mediating Role of Parent-Child Conflict in the Association Between Parental Anxiety and Emotional Behavioral Problems Among Children With Leukemia.

Background: There is a documented risk of emotional and behavioral disorders in children with leukemia. Assessing the factors contributing to their behavioral disorders is particularly important from a prevention perspective.

Objective: The aim of this study was to study the influencing factors of internalizing and externalizing behaviors in children with leukemia from the perspective of adult family members.

SAHA inhibits lung fibroblast activation by increasing p66Shc expression epigenetically.

Objectives: To investigate the effects of suberoylanilide hydroxamic acid (SAHA) on lung fibroblast activation and to examine the role of p66Shc in this process.

Methods: An in vitro pulmonary fibrosis model was established using transforming growth factor-β (TGF-β)-induced MRC-5 lung fibroblasts. The proliferation and migration capacities of MRC-5 cells, along with the expression of fibrosis-related genes, were assessed following treatment with SAHA and/or silence of p66Shc.

Vitamin A and its influence on tumour extracellular matrix.

Vitamin A is a crucial nutrient renowned for its role in visual health and cellular regulation. Its derivatives influence cell differentiation, proliferation, and tissue homeostasis, making them significant in cancer research due to their effects on both normal and tumour cells. This review explores the intricate relationship between vitamin A metabolism and the extracellular matrix (ECM) in cancer.

FKBP Prolyl Isomerase 11: A Novel Oncogene Interacting With SRSF1 in Esophageal Squamous Cell Carcinoma.

Esophageal squamous cell carcinoma (ESCC) is one of the main subtypes of esophageal carcinoma with high morbidity. This study aimed to explore the role of FKBP prolyl isomerase 11 (FKBP11) in ESCC and investigate the underlying mechanism. FKBP11 levels in ESCC tumor tissues and cell lines were measured.

Sodium aescinate-induced hepatotoxicity via ATF4/GSH/GPX4 axis-mediated ferroptosis.

Sodium aescinate (SA), a natural plant extract with various bioactivities, is widely used to treat oedema and inflammation in clinics. However, adverse events, including liver injury, kidney injury, and phlebitis, have been reported in patients with SA in recent years. In this study, we used BALB/c mice and L02 cells to evaluate the role of ferroptosis in SA-induced liver injury.

Targeting the NLRP3 inflammasome abrogates cardiotoxicity of immune checkpoint blockers.

Background: Immune checkpoint inhibitors (ICIs) have revolutionized the treatment of many malignant tumors. However, ICI-induced hyper-immune activation causes cardiotoxicity. Traditional treatments such as glucocorticoids and immunosuppressants have limited effectiveness and may even accelerate tumor growth.

Intermittent oro-esophageal tube feeding for cerebral small vessel disease patients with dysphagia: A randomized controlled study.

Objectives: This study reported the clinical effect of intermittent oro-esophageal tube feeding (IOE) versus nasogastric tube feeding (NGT) on cerebral small vessel disease (CSVD) patients with dysphagia.

Methods: This randomized controlled study included 60 CSVD patients with dysphagia who received routine treatment. Participants were randomly divided into the intervention group (with IOE, n = 30) and the control group (with NGT, n = 30).

PLK1 inhibition impairs erythroid differentiation.

Polo-like kinase 1 (PLK1), a key regulator of the G2/M phase in mitosis, is frequently overexpressed in numerous tumors. Although PLK1 inhibitors have emerged as promising therapeutic agents for cancer, their use has been linked to significant anemia in a subset of patients, yet the underlying mechanisms remain poorly understood. In this study, we utilized an human umbilical cord blood-derived CD34 cell-based erythroid differentiation system, alongside a murine model, to investigate the impact of PLK1 inhibitors on erythropoiesis.

Evaluation of the efficacy of natural orifice specimen extraction surgery versus conventional laparoscopic surgery for colorectal cancers: A systematic review and meta-analysis.

Aim: Natural orifice specimen extraction surgery (NOSES) has gained significant importance in treating cancers. The current study is a meta-analysis that aimed to assess the short-term efficacy and long-term prognostic impact of NOSES and conventional laparoscopic (CL) surgery in the treatment of colorectal cancer (CRC).

Method: Published reports in several medical databases up to February 2024 were searched and information pertinent to outcomes of NOSES and CL in retrospective and randomized studies to treat CRC was collected.

Development of a prognostic nomogram model for predicting outcomes in benign esophagogastric anastomotic stenosis treated with fluoroscopic balloon dilation.

Objective: This study aims to evaluate the clinical utility and effectiveness of a nomogram model in predicting outcomes for patients with benign esophagogastric anastomotic stenosis (BES) undergoing fluoroscopic balloon dilation (FBD).

Methods: The clinical data of 428 patients with BES who received FBD treatment at our hospital between January 2013 and June 2023 were retrospectively analyzed. The patients were divided into training and validation cohorts in a 7:3 ratio.