Gene expression profiles based on maternal plasma cfDNA nucleosome footprints indicate fetal development and maternal immunity changes during pregnancy progress.

Background: Pregnancy significantly alters the maternal immune system, affecting fetal development. The collection of tissues from the human placenta and fetus is not ethically or practically feasible at various gestational stages, thus limiting the study of gene expression in the fetus and placenta. Recent studies have shown that plasma cell-free DNA (cfDNA) nucleosome patterns can predict gene expression in the source tissue, offering insights into an individual's health status.

Effects of preimplantation genetic testing for aneuploidy on embryo transfer outcomes in women of advanced reproductive age with no more than three retrieved oocytes.

Objective: To evaluate whether preimplantation genetic testing for aneuploidy (PGT-A) benefits women of advanced reproductive age (≥38 years old) with a diminished ovarian reserve (not more than three retrieved oocytes).

Design: A retrospective analysis comparing two groups: (a) PGT-A group: women who chose PGT-A and subsequent single re-warmed embryo transfers and (b) non-PGT-A group: women who chose not to genetically test their embryos and underwent subsequent fresh or re-warmed embryo transfers of one to two embryos on days 3 or 5.

Subjects: Two hundred thirty patients underwent PGT-A therapy, with 49 of these individuals undergoing more than one PGT-A cycle.

Feasibility of preimplantation genetic testing for aneuploidy on frozen-thawed embryos following conventional IVF insemination.

Objective: Intracytoplasmic sperm injection (ICSI) is commonly employed in preimplantation genetic testing (PGT) to minimize the risk of foreign sperm DNA contamination. Cryopreserved embryos from patients with recurrent miscarriage or repeated implantation failure, who have undergone conventional fertilization (IVF), can be thawed and biopsied for PGT. Therefore, we aimed to assess the accuracy and effectiveness of preimplantation genetic testing for aneuploidy (PGT-A) on frozen embryos using conventional IVF (c-IVF) insemination methods.

The impact of low oocyte maturity ratio on blastocyst euploidy rate: a matched retrospective cohort study.

Objective: To investigate the association between a low oocyte maturity ratio from in vitro fertilization cycle and blastocyst euploidy.

Methods: A total of 563 preimplantation genetic testing (PGT) cycles (PGT cycles with chromosomal structural rearrangements were excluded) were performed between January 2021 and November 2022 at our center (average oocyte maturity rate: 86.4% ± 14.

Non-invasive determination of gene expression in placental tissue using maternal plasma cell-free DNA fragmentation characters.

Background: The expression profiles of placental genes are crucial for understanding the pathogenesis of fetal development and placental-origin pregnancy syndromes. However, owing to ethical limitations and the risks of puncture sampling, it is difficult to obtain placental tissue samples repeatedly, continuously, multiple times, or in real time. Establishing a non-invasive method for predicting placental gene expression profiles through maternal plasma cell-free DNA (cfDNA) sequencing, which carries information about the source tissue and gene expression, can potentially solve this problem.

Global, regional and national burdens of nutritional deficiencies, from 1990 to 2019.

The epidemiological and burden characteristics of nutritional deficiencies (ND) have been evolving, and it is crucial to identify geographical disparities and emerging trends. This study aimed to analyse the global, regional and national trends in the burden of ND over the past 30 years. Data were obtained from the Global Burden of Disease (GBD) 2019 database for the period 1990-2019.

Temporal trends in prevalence and disability of chronic kidney disease caused by specific etiologies: an analysis of the Global Burden of Disease Study 2019.

Background: The prevalence of disability in CKD is high. In this context the aim of the present study was to assess the  temporal trends of prevalence and disability progression for chronic kidney disease (CKD) caused by specific etiologies.

Methods: Using data from the Global Burden of Diseases Study (GBD) 2019, we examined the age-standardized rates of CKD prevalence and disability-adjusted life-years for different etiologies, including Type 1/2 diabetes mellitus (T1DM/T2DM), glomerulonephritis, and hypertension.

Association of Traditional dietary pattern with early and precocious puberty: a population-based cross-sectional study.

Background: Precocious puberty is an endocrine disease that is diagnosed by sex, age, and Tanner stage of puberty. This study aimed to investigate the association between various dietary patterns and early or precocious puberty, especially Traditional dietary patterns, which have been rarely investigated.

Methods: A total of 4085 primary school students in grades 1-3 (6-9 years) completed individual characteristic surveys, health examinations, and food frequency questionnaires (FFQs).

The green bad omen in blood smear and the potential of blood purification therapy: A case report.

Rationale: Green inclusions (GI) are distinct morphological features found in phagocytic cells like neutrophils and monocytes. These intracellular structures exhibit bright green color with unclear boundaries, and their origin and clinical significance are still not fully understood. GI carriers, often middle-aged to elderly with liver dysfunction, face higher mortality rates, earning them the nickname "inclusions of death.

Mendelian randomization analysis identifies a genetic casual association between circulating C-reactive protein and intracerebral hemorrhage.

Background: The causal effect of C-reactive protein (CRP) on intracerebral hemorrhage (ICH) remains controversial. We discussed the causal association of CRP with ICH based on two-sample Mendelian randomization.

Methods: The data from two genome-wide association studies (GWAS) of European ancestry was extracted, including circulating CRP levels (204,402 individuals) and ICH (1,687 cases and 201,146 controls).

Establishment of linkage phase, using Oxford Nanopore Technologies, for preimplantation genetic testing of Coffin-Lowry syndrome with a mutation.

This study aimed to perform preimplantation genetic testing (PGT) for a female Coffin-Lowry Syndrome (CLS) patient with a mutation (DNM) in RPS6KA3. It was challenging to establish the haplotype in this family because of the lack of information from affected family members. Hence, we explored a new and reliable strategy for the detection of the DNM in PGT, using Oxford Nanopore Technologies (ONT) and the MARSALA platform.

Expression patterns and immunological characterization of PANoptosis -related genes in gastric cancer.

Background: Accumulative studies have demonstrated the close relationship between tumor immunity and pyroptosis, apoptosis, and necroptosis. However, the role of PANoptosis in gastric cancer (GC) is yet to be fully understood.

Methods: This research attempted to identify the expression patterns of PANoptosis regulators and the immune landscape in GC by integrating the GSE54129 and GSE65801 datasets.

Effects of reduced follicle-stimulating hormone dosage before human chorionic gonadotropin trigger on in vitro fertilization outcomes.

Objective: To determine whether a reduced dose of follicle-stimulating hormone (FSH) before human chorionic gonadotropin (hCG) trigger during ovarian stimulation can affect in vitro fertilization (IVF) outcomes.

Methods: This study included 347 patients with a normal ovarian response who received a reduced dose of FSH before hCG trigger for 2-3 days (Group A) and 671 patients who did not receive a reduced dose (Group B) from a university-affiliated IVF center between January 2021 and December 2022. The primary endpoint was estrogen (E2) and progesterone (P) levels on the day of hCG trigger, fresh embryo transfer cycles, laboratory outcomes, and clinical outcomes between the two groups.

Ten years' experience in prenatal diagnosis of α-thalassemia in a municipal hospital and retrospective analysis of ultrasonic abnormalities.

Objective: This study reviewed and analyzed the prenatal diagnosis experience of thalassemia in our center over the past decade and the abnormal ultrasonic characteristics of fetuses with hemoglobin (Hb) Bart's hydrops fetalis.

Methods: Pregnant women and their partners who tested positive for α-thalassemia or were diagnosed with thalassemia intermedia (HbH diseases) underwent genetic counseling, and a prenatal diagnostic procedure for α-thalassemia was recommended. Ultrasonography was performed before prenatal diagnosis.

Immunogenic cell death-led discovery of COVID-19 biomarkers and inflammatory infiltrates.

Immunogenic cell death (ICD) serves a critical role in regulating cell death adequate to activate an adaptive immune response, and it is associated with various inflammation-related diseases. However, the specific role of ICD-related genes in COVID-19 remains unclear. We acquired COVID-19-related information from the GEO database and a total of 14 ICD-related differentially expressed genes (DEGs) were identified.

The impact of subclinical hypothyroidism on growth and development in infants and young children aged 0 to 5 years.

Introduction: The objective was to investigate the growth and development of infants and young children with mild subclinical hypothyroidism aged 0 to 5 years, especially those aged 0 to 2 years.

Material And Methods: The study was a retrospective analysis of the birth status, physical growth, and neuromotor development of patients aged 0 to 5 years, who were diagnosed with subclinical hypothyroidism during newborn screening (NBS) in Zhongshan between 2016 and 2019. Based on preliminary results, we compared 3 groups: with thyroid-stimulating factor (TSH) value of 5-10 mIU/L (442 cases), TSH value of 10-20 mIU/L (208 cases), and TSH above 20 mIU/L (77 cases).

Pregnant woman with acute promyelocytic leukemia delivers healthy twins and is cured successfully: A case report.

Acute promyelocytic leukemia (APL) during pregnancy is rare and difficult to treat. To the best of our knowledge, there is little precedent for successful treatment with combined chemotherapeutic agents without affecting delivery. The present study reported the case of a 31-year-old woman pregnant with twins who presented to the antenatal service at 13-week gestational age with complaints of vaginal bleeding, lower abdominal pain, bleeding gums and skin ecchymosis, and was eventually diagnosed with APL.

Analysis of Risk Factors and Screening Results of Neonatal Congenital Hypothyroidism in a Tertiary Care Center of Southern China.

Objective: To explore the risk factors for neonatal congenital hypothyroidism (CH) and the influencing factors of false-positive results in CH screening.

Methods: In this study, 255 neonatal patients with CH who completed the screening and further diagnosis and 366 neonates with positive CH screening results and normal thyroid function were selected as the case group. 246 healthy neonates with normal thyroid function were selected as the control group.

Ultrasound image-based deep learning to differentiate tubal-ovarian abscess from ovarian endometriosis cyst.

We developed ultrasound (US) image-based convolutional neural networks (CNNs) to distinguish between tubal-ovarian abscess (TOA) and ovarian endometriosis cyst (OEC). A total of 202 patients who underwent US scanning and confirmed tubal-ovarian abscess or ovarian endometriosis cyst by pathology were enrolled in retrospective research, in which 171 patients (from January 2014 to September 2021) were considered the primary cohort (training, validation, and internal test sets) and 31 patients (from September 2021 to December 2021) were considered the independent test cohort. There were 68 tubal-ovarian abscesses and 89 OEC, 4 TOA and 10 OEC, and 10 TOA and 21 OEC patients belonging to training and validation sets, internal sets, and independent test sets, respectively.

Characterization of protein-based risk signature to predict prognosis and evaluate the tumor immune environment in breast cancer.

Background: Proteomics profiles have enabled a systematic insight into the prognosis of cancer. This study aimed to establish a valuable protein-based risk signature to assess the prognosis and immune status in patients with breast cancer (BC).

Methods: Protein expression profile, RNA expression data, and clinical information were acquired from The Cancer Genome Atlas (TCGA).

Prenatal diagnosis of Bardet‑Biedl syndrome due to novel variants in the BBS10 gene in a fetus with multiple anomalies: A case report.

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by obesity, mental retardation, retinal dystrophy, hypogenitalism and renal and polydactyly malformations. The last two malformations may be observed antenatally and are highly variable, making the prenatal diagnosis of BBS challenging. The present study investigated the molecular etiology of BBS and validated a method for prenatal diagnosis.

Interleukin 13 participates in terminal differentiation of esophageal squamous cell carcinoma cells.

Background: In China, esophageal squamous cell carcinoma (ESCC) accounts for more than 90% of all esophageal cancer cases. Interleukin 13 (IL-13) was widely reported to play a key role in tumor progression. Our previous study reported that IL-13 was a favorable predictive marker for the overall survival of esophageal squamous cell carcinoma (ESCC) patients, but how IL-13 contributes to ESCC progression remains unknown.

m6A Regulator-Mediated Methylation Modification Patterns and Characteristics in COVID-19 Patients.

Background: RNA N6-methyladenosine (m6A) regulators may be necessary for diverse viral infectious diseases, and serve pivotal roles in various physiological functions. However, the potential roles of m6A regulators in coronavirus disease 2019 (COVID-19) remain unclear.

Methods: The gene expression profile of patients with or without COVID-19 was acquired from Gene Expression Omnibus (GEO) database, and bioinformatics analysis of differentially expressed genes was conducted.

[Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development].

To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes.

Risk Factors Associated With Renal and Urinary Tract Anomalies Delineated by an Ultrasound Screening Program in Infants.

Objective: To evaluate the value of ultrasound screening for congenital anomalies of the kidney and urinary tract (CAKUT) during the early postnatal period.

Methods: This is a prospective study that enrolled all neonates born from August 2019 to July 2020 at one medical center. Postnatal ultrasound screening was conducted in all neonates at 1, 3, and 6 months old, respectively.