The interaction between nirmatrelvir/ritonavir and sirolimus: a case report of a kidney recipient with renal insufficiency and COVID-19.

Nirmatrelvir/ritonavir is a novel drug combination authorized by the US Food and Drug Administration for the treatment of coronavirus disease 2019 (COVID-19). This report describes the case of a patient with a prior history of kidney transplantation who received nirmatrelvir/ritonavir. In this case, sirolimus use was successfully stopped before nirmatrelvir/ritonavir treatment, and the nirmatrelvir/ritonavir trough concentration was determined.

Acupuncture for hormonal readiness and gut microbiota in obese polycystic ovary syndrome: an open-label, randomized controlled trial.

Objective: To explore whether acupuncture combined with clomiphene can reduce the luteinizing hormone-to follicle-stimulating hormone ratio and impact the gut microbiota in patients with obese polycystic ovary syndrome.

Methods: This open-label, randomized, parallel-group controlled trial included 86 women aged 20-40 years with obese polycystic ovary syndrome and 19 healthy controls. Participants were randomly assigned to either an acupuncture combined with clomiphene group or a clomiphene-only group, with a healthy control group for comparison.

The immediate risk of cancer and its precursor lesions in women with abnormal cervical glandular cytology.

: This study aims to assess the immediate risk of cervical intraepithelial neoplasia grade (CIN)3+ lesions in women with abnormal cervical glandular cytology. : A total of 403 women with abnormal cervical glandular cytology who underwent simultaneous HPV genotyping and cervical biopsy at the Zhejiang University School of Medicine Women's Hospital, China, between 2016 and 2020, were included in this study. The probability of CIN3+ lesions among women in each group was further analyzed.

Age-related characteristics of sedation in pediatric patients and their correlated adverse events: a cohort study.

Objective: The objective of this research was to examine the features and potential hazards of sedation in children of varying ages. Additionally, the study aimed to comprehend these variations to enhance the safety and efficacy of clinical applications.

Methods: A retrospective analysis was conducted on case data involving pediatric patients who underwent imaging procedures in outpatient settings and necessitated procedural sedation from 2022 to 2024.

Spatial transcriptomics reveals unique metabolic profile and key oncogenic regulators of cervical squamous cell carcinoma.

Background: As a prevalent and deadly malignant tumor, the treatment outcomes for late-stage patients with cervical squamous cell carcinoma (CSCC) are often suboptimal. Previous studies have shown that tumor progression is closely related with tumor metabolism and microenvironment reshaping, with disruptions in energy metabolism playing a critical role in this process. To delve deeper into the understanding of CSCC development, our research focused on analyzing the tumor microenvironment and metabolic characteristics across different regions of tumor tissue.

Analysis of the implementation value of abdominal B-ultrasound combined with cervical cerclage in the prevention and treatment of late recurrent spontaneous abortion.

Objective: To study the implementation value of abdominal B-ultrasound combined with cervical cerclage in the prevention and treatment of recurrent late abortion.

Methods: From October 2020 to December 2023, 196 pregnant patients who had a history of late abortions at our institution were chosen. They were divided into groups based on the treatments used.

Modeling diabetes progression with risk factors: A case study in China.

Background: Approximately 537 million adults worldwide have diabetes, more than 90 % of which is type 2 diabetes mellitus (T2DM). China has the largest number of people living with diabetes. Understanding the epidemiological mechanism can guide diabetes surveillance and control.

Reclassifying a Novel POMT1 Variant by Integrating Functional Analysis and Bioinformatics: Implications for Preimplantation Genetic Testing.

The advancement of next-generation sequencing has spurred the growing adoption of whole-exome sequencing (WES) for genetic screening. Preimplantation genetic testing for monogenic disorders (PGT-M) can effectively prevent the transmission of pathogenic variants. However, interpreting vast data volumes and ensuring precise genetic counseling, especially with variants of uncertain significance (VUS), remains challenging.

Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.

Despite the well-documented mutation spectra of β-thalassemia, the genetic variants and haplotypes of globin gene clusters modulating its clinical heterogeneity remain incompletely illustrated. Here, a targeted long-read sequencing (T-LRS) is demonstrated to capture 20 genes/loci in 1,020 β-thalassemia patients. This panel permits not only identification of thalassemia mutations at 100% of sensitivity and specificity, but also detection of rare structural variants (SVs) and single nucleotide variants (SNVs) in modifier genes/loci.

Decreased telomerase activity and shortened telomere length in infants whose mothers have gestational diabetes mellitus and increased severity of telomere shortening in male infants.

Objective: Gestational diabetes mellitus (GDM) is a common complication during pregnancy and increases the risk of metabolic diseases in offspring. We hypothesize that the poor intrauterine environment in pregnant women with GDM may lead to chromosomal DNA damage and telomere damage in umbilical cord blood cells, providing evidence of an association between intrauterine programming and increased long-term metabolic disease risk in offspring.

Methods: We measured telomere length (TL), serum telomerase (TE) activity, and oxidative stress markers in umbilical cord blood mononuclear cells (CBMCs) from pregnant women with GDM (N=200) and healthy controls (Ctrls) (N=200) and analysed the associations of TL with demographic characteristics, biochemical indicators, and blood glucose levels.

[Exploring local microbial communities in adenoids through 16S rRNA gene sequencing].

To explore the hypothesis of "pathogen storage pool" by analyzing the local microbial community of adenoids. Under the guidance of a 70° nasal endoscope, sterile swabs were used to collect secretions from the adenoid crypts of the subjects. The samples were sent to the laboratory for DNA extraction and standard bacterial 16S full-length sequencing analysis.

The association between screen exposure and autism spectrum disorder in children: meta-analysis.

Introduction: The goal is to provide light on the contentious relationship between screen exposure and childhood autism spectrum disorder (ASD). By conducting two meta-analyses that showed a potential association, including screen exposure effect by ASD and ASD risk by screen exposure, we aimed to clarify the potential causality between screen exposure and childhood ASD.

Content: The literature published up to December 2023 were systematically collected, and the combined effect values of weighted mean difference (WMD) and 95 % confidence interval (CI) and odds ratio (OR) and 95 % CI were calculated using two meta-analyses using the STATA 12.

Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.

Background: Familial hypercholesterolemia (FH) is an inherited disorder mainly marked by increased low-density lipoprotein cholesterol (LDL-C) concentrations and a heightened risk of early-onset arteriosclerotic cardiovascular disease (ASCVD). This study seeks to characterize the genetic spectrum and genotype‒phenotype correlations of FH in Chinese pediatric individuals.

Methods: Data were gathered from individuals diagnosed with FH either clinically or genetically at multiple hospitals across mainland China from January 2016 to June 2024.

Structural changes in the retina and choroid in patients with different degrees of myopia.

To observe the structural changes of retina and choroid in patients with different degrees of myopia. We recruited 219 subjects with different degrees of myopia for best corrected visual acuity, computer refraction, intraocular pressure, axial length (AL), optical coherence tomography (OCT) imaging, and other examinations. Central macular retinal thickness (CRT), subfoveal choroidal thickness (SFCT), nasal retinal thickness (NRT), temporal retinal thickness (TRT), nasal choroidal thickness (NCT) and temporal choroidal thickness (TCT) were measured by optical coherence tomography.

Race as a prognostic factor of breast mucinous carcinoma.

Purpose: The rarity of breast mucinous carcinoma (BMC) makes it challenging to study the prognosis of this disease across diverse racial populations. This study aimed to leverage epidemiological data on immigrant populations to elucidate the prognostic differences in BMC patients from various racial/ethnic backgrounds. The goal was to help formulate more personalized clinical practice guidelines for the management of this rare malignancy.

Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China.

Newborn congenital hypothyroidism (CH) screening has been widely used worldwide. The objective of this study was to evaluate the effectiveness of applying biochemical and gene panel sequencing as screening tests for CH and to analyze the mutation spectrum of CH in China. Newborns were prospectively recruited from eight hospitals in China between February and December 2021.

Influence of inhaled nitric oxide on bronchopulmonary dysplasia in preterm infants with PPHN or HRF at birth: a propensity score matched study.

Background: Bronchopulmonary Dysplasia (BPD) is a chronic lung disease affecting preterm infants, with limited prevention and treatment options. Inhaled Nitric Oxide (iNO) is sometimes used to treat Persistent Pulmonary Hypertension of the Newborn (PPHN) and Hypoxemic Respiratory Failure (HRF), and its impact on BPD development remains debated.

Objective: To assess whether iNO-related factors are potential contributors to the development of BPD Grade Ⅱ-Ⅲ in very premature infants (VPI) diagnosed with PPHN or HRF at birth using Propensity Score Matching (PSM).

Wild-Type p53 Regulates Apoptosis of Human Breast Cancer Cells.

Background: The tumor suppressor wild-type p53 is known for its role in inducing apoptosis in tumor cells. This study investigated the relationship between wild-type p53 and protein phosphatase 1 (PP1) and caspase in promoting apoptosis of breast cancer cells.

Methods: Human breast cancer cell lines MCF-7 and MDA-MB-231 obtained from the American Type Culture Collection were used in this study.

Elevated Astrocytic NFAT5 of the hippocampus increases epilepsy susceptibility in hypoxic-ischemic mice.

Objective: Hypoxic-ischemic brain damage (HIBD) is a leading cause of neonatal mortality, resulting in brain injury and persistent seizures that can last into the late neonatal period and beyond. Effective treatments and interventions for infants affected by hypoxia-ischemia remain lacking. Clinical investigations have indicated an elevation of nuclear factor of activated T cells 5 (NFAT5) in whole blood from umbilical cords of severely affected HIBD infants with epilepsy.

The determinants of help-seeking behaviors among cancer patients in online health communities: Evidence from China.

Objective: Although online health communities offer a new approach to patient interaction, the help-seeking behaviors of cancer patients within these platforms remain unexplored. This study aims to identify the determinants influencing online help-seeking behaviors among cancer patients.

Method: Based on motivation theory, we proposed six hypotheses and developed a research model.

Whole-exome sequencing identified a novel heterozygous variant in in a Chinese family with neurodevelopmental disorder characterized by impaired language, behavioral abnormalities, and dysmorphic facies.

UBAP2L-deficiency syndrome, also known as neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies (NEDLBF, OMIM 620494), is an extremely rare autosomal dominant disorder. This condition is caused by heterozygous variant in the gene (NM_014847.4, MIM 616472), which encodes the ubiquitin-associated protein 2-like protein involved in the formation of stress granules (SGs).

Establishment of quantitative evaluation system for cochlear implant effectiveness for hearing-impaired children.

Introduction: Cochlear implant is currently the most widely proven interventions for auditory rehabilitation for children with severe sensorineural hearing impairment. However, there are obvious limitations in these current evaluation methods. This study aims to develop an evaluation system for quantitatively evaluating the effectiveness of cochlear implants for hearing-impaired children.

Endosomal traffic disorders: a driving force behind neurodegenerative diseases.

Endosomes are crucial sites for intracellular material sorting and transportation. Endosomal transport is a critical process involved in the selective uptake, processing, and intracellular transport of substances. The equilibrium between endocytosis and circulation mediated by the endosome-centered transport pathway plays a significant role in cell homeostasis, signal transduction, and immune response.