Objective::To analyze fetal renal abnormality genetic features and the prenatal characteristics of the 17q12 microdeletion syndrome.Methods::This prospective cohort study examined prenatal ultrasound findings of renal abnormalities in pregnant women who underwent single nucleotide polymorphism (SNP) array or copy number variation sequencing (CNV-seq) testing on amniotic fluid or fetal tissue at Tianjin Central Obstetrics and Gynecology Hospital between January 2016 and August 2022. The study cohort comprised women with advanced maternal age, fetal ultrasound anomalies, high-risk non-invasive prenatal testing results, or suspected 17q12 microdeletion syndrome. Comprehensive clinical data, including maternal age, detailed ultrasound findings, and pregnancy outcomes, were systematically collected. SNP-array analysis was conducted using an Affymetrix CytoScan 750 K Array Chip to identify CNVs and loss of heterozygosity, while CNV-seq was performed on the Illumina HiSeq 2000 platform. Detected variants were classified according to the American College of Medical Genetics and Genomics guidelines. Statistical analyses were performed using SPSS version 27.0.Results::Abnormal renal development was identified in 141 patients, among whom 26 exhibited hyperechogenic kidneys (HCK). Of these, 12 cases were associated with 17q12 microdeletion syndrome, while the remaining 14 were linked to other chromosomal abnormalities. When excluding patients with HCK, those diagnosed with polycystic kidney disease demonstrated a higher prevalence of chromosomal abnormalities compared to those with multicystic dysplastic kidney and renal dysplasia. Although isolated conditions such as horseshoe kidney, hydronephrosis, ectopic kidney, and unilateral kidney typically presented with normal chromosomal findings, the incidence of chromosomal abnormalities increased when these conditions coexisted with other anomalies. A detailed analysis of the correlation between 17q12 microdeletion syndrome and HCK revealed that 12 out of the 14 patients diagnosed with 17q12 microdeletion syndrome exhibited HCK. Genetic testing confirmed the syndrome in seven patients, with five cases attributed to novel mutations and two cases resulting from inherited mutations.Conclusion::Fetal HCK was closely associated with the 17q12 microdeletion syndrome, and polycystic kidney disease showed a higher rate of chromosomal abnormalities. Chromosome test results were mostly normal in patients with other renal abnormalities, such as kidney dysplasia, horseshoe kidneys, hydronephrosis, kidney deficiency, and ectopic kidneys. Prenatal diagnosis is recommended, especially in cases of non-isolated fetal renal abnormalities. This study provides strong evidence supporting a link between fetal renal abnormalities and genetic syndromes.

Objective::To analyze fetal renal abnormality genetic features and the prenatal characteristics of the 17q12 microdeletion syndrome.Methods::This prospective cohort study examined prenatal ultrasound findings of renal abnormalities in pregnant women who underwent single nucleotide polymorphism (SNP) array or copy number variation sequencing (CNV-seq) testing on amniotic fluid or fetal tissue at Tianjin Central Obstetrics and Gynecology Hospital between January 2016 and August 2022. The study cohort comprised women with advanced maternal age, fetal ultrasound anomalies, high-risk non-invasive prenatal testing results, or suspected 17q12 microdeletion syndrome. Comprehensive clinical data, including maternal age, detailed ultrasound findings, and pregnancy outcomes, were systematically collected. SNP-array analysis was conducted using an Affymetrix CytoScan 750 K Array Chip to identify CNVs and loss of heterozygosity, while CNV-seq was performed on the Illumina HiSeq 2000 platform. Detected variants were classified according to the American College of Medical Genetics and Genomics guidelines. Statistical analyses were performed using SPSS version 27.0.Results::Abnormal renal development was identified in 141 patients, among whom 26 exhibited hyperechogenic kidneys (HCK). Of these, 12 cases were associated with 17q12 microdeletion syndrome, while the remaining 14 were linked to other chromosomal abnormalities. When excluding patients with HCK, those diagnosed with polycystic kidney disease demonstrated a higher prevalence of chromosomal abnormalities compared to those with multicystic dysplastic kidney and renal dysplasia. Although isolated conditions such as horseshoe kidney, hydronephrosis, ectopic kidney, and unilateral kidney typically presented with normal chromosomal findings, the incidence of chromosomal abnormalities increased when these conditions coexisted with other anomalies. A detailed analysis of the correlation between 17q12 microdeletion syndrome and HCK revealed that 12 out of the 14 patients diagnosed with 17q12 microdeletion syndrome exhibited HCK. Genetic testing confirmed the syndrome in seven patients, with five cases attributed to novel mutations and two cases resulting from inherited mutations.Conclusion::Fetal HCK was closely associated with the 17q12 microdeletion syndrome, and polycystic kidney disease showed a higher rate of chromosomal abnormalities. Chromosome test results were mostly normal in patients with other renal abnormalities, such as kidney dysplasia, horseshoe kidneys, hydronephrosis, kidney deficiency, and ectopic kidneys. Prenatal diagnosis is recommended, especially in cases of non-isolated fetal renal abnormalities. This study provides strong evidence supporting a link between fetal renal abnormalities and genetic syndromes.

Objective To investigates the applicability of cutting balloon in the pretreatment of superficial coronary artery calcified lesions, so as to decrease the occurrence of serious consequences in the treatment of calcified lesions. Methods The effect of cutting balloon on calcified plaques with different curvatures, thickness, and length was analyzed using the finite element method, with normal balloon as a control. The thickness of calcified plaque was set to 0.3 mm and 0.4 mm, and the length was set to 2 mm and 4 mm. The calcification degree was set to 120°, 180°, 270°and 360° according to the intravenous ultrasound (IVUS) calcification severity grading, with a total of 16 types of calcified plaques. The brittle fracture module was used to simulate calcification fracture of calcified plaques, and virtual stent implantation was carried out based on pretreatment simulation. The effect of pretreatment was evaluated by calcification fracture condition and stent roundness. Results For superficial calcification lesions, in lesions less than 120°, the balloon could not remove the calcification plaque obstruction, and the stent roundness rate was 82.75%. In 180° calcified lesions with thickness of less than 0.3 mm, the calcification was broken by cutting balloon under 1 215.9 kPa expansion pressure, and the post-stent roundness rate was 74.42%; normal balloon could not cause calcification fracture under safe expansion pressure (1 418.55 kPa). In 270°calcified lesions with thickness less than 0.3 mm, the normal balloon produced 3 fractures under 1 013.25 kPa expansion pressure. The cutting balloon produced 2 fractures under 1 013.25 kPa expansion pressure, and the balloon could not fracture the circular calcified lesions with thickness of 0.3 mm. Conclusions Cutting balloon is recommended for 180°calcified lesions with thickness less than 0.3 mm, the normal balloon is recommended for 270°calcified lesions, and balloon pretreatment is not recommended for annular lesions with thickness greater than 0.3 mm.

In 2019, preterm births (PTB) accounted for approximately 0.66 million deaths globally. PTB is also associated with a significantly higher risk of mortality and long-term complications for newborns. Long-term studies associated several factors, including disruption of immune tolerance and inflammation, with PTB. However, the pathogenesis of PTB remains unclear. Gonadal steroid hormones are critical for pregnancy maintenance and regulation of immune and inflammatory responses. However, it is not clear how unbalanced gonadal steroid hormones, such as imbalanced estrogen/androgen or estrogen/progesterone contribute to PTB. In this review, we discuss how gonadal steroid hormones mediate dysfunction in immune tolerance and inflammatory responses, which are known to promote the occurrence of PTB, and provide insight into PTB prediction.

Steroid hormones, including progestagens, estrogens, androgens, corticosteroids, and their precursor cholesterol, perform essential functions in the successful establishment and maintenance of pregnancy and normal fetal development. As the core endocrine organ at the prenatal stage, the human placenta is involved in the biosynthesis, metabolism, and delivery of steroid hormones. Steroidogenic pathways are tightly regulated by placenta-intrinsic cytochrome P450 and hydroxysteroid dehydrogenase. However, the relationship between placental steroidogenic enzyme expression and adverse pregnancy outcomes is controversial. In this review, we summarize the possible upstream regulatory mechanisms of placental steroidogenic enzymes in physiologic and pathophysiologic states. We also describe the human placental barrier model and examine the potential of single-cell sequencing for evaluating the primary functions and cellular origin of steroidogenic enzymes. Finally, we examine the existing evidence for the association between placental steroidogenic enzyme dysregulation and adverse pregnancy outcomes.

In 2019, preterm births (PTB) accounted for approximately 0.66 million deaths globally. PTB is also associated with a significantly higher risk of mortality and long-term complications for newborns. Long-term studies associated several factors, including disruption of immune tolerance and inflammation, with PTB. However, the pathogenesis of PTB remains unclear. Gonadal steroid hormones are critical for pregnancy maintenance and regulation of immune and inflammatory responses. However, it is not clear how unbalanced gonadal steroid hormones, such as imbalanced estrogen/androgen or estrogen/progesterone contribute to PTB. In this review, we discuss how gonadal steroid hormones mediate dysfunction in immune tolerance and inflammatory responses, which are known to promote the occurrence of PTB, and provide insight into PTB prediction.

Steroid hormones, including progestagens, estrogens, androgens, corticosteroids, and their precursor cholesterol, perform essential functions in the successful establishment and maintenance of pregnancy and normal fetal development. As the core endocrine organ at the prenatal stage, the human placenta is involved in the biosynthesis, metabolism, and delivery of steroid hormones. Steroidogenic pathways are tightly regulated by placenta-intrinsic cytochrome P450 and hydroxysteroid dehydrogenase. However, the relationship between placental steroidogenic enzyme expression and adverse pregnancy outcomes is controversial. In this review, we summarize the possible upstream regulatory mechanisms of placental steroidogenic enzymes in physiologic and pathophysiologic states. We also describe the human placental barrier model and examine the potential of single-cell sequencing for evaluating the primary functions and cellular origin of steroidogenic enzymes. Finally, we examine the existing evidence for the association between placental steroidogenic enzyme dysregulation and adverse pregnancy outcomes.

Microplastics refer to plastic fibers, particles, or films with a particle size less than 5 mm, and microplastics pollution has become one of the major global environmental problems. Microplastics can be exposed to the human body through ingestion, inhalation and skin contact, affecting maternal and fetal health through mechanisms such as cytotoxicity and signal transduction, energy homeostasis and metabolic disorders, immune dysfunction, and as carriers of microorganisms or toxic chemicals. The purpose of this paper is to review the physical and chemical properties of microplastics, human exposure pathways, maternal-fetal effects, and its mechanisms.

Objective This study aimed to explore the effect of peripheral blood mesenchymal stem cells combined with porous absorbable gelatin sponge/self assembling peptide composite scaffolds on SD rat femoral con-dyle bone defect reconstruction and provide a new strategy for the repair of bone defects. Methods 30 female SD rats,8W age,were randomly divided into 3 groups,10 every group.The group A was blank control group,group B was porous absorbable gelatin sponge/self assembling peptide composite scaffold group,and group C was periph-eral blood mesenchymal stem cells combined with porous absorbable gelatin sponge/self assembling peptide compos-ite scaffold group. The effect of osteogenesis was observed by paraffin section,hematoxylin eosin staining,X-ray examination,and Micro-CT scanning in 3 dimensional reconstruction of femoral condyle defect. Results Imaging examination showed that the experimental group had better osteogenesis effect. Histological examination showed that a lot of new bone tissue was found in group C,while only a small amount of new bone was found in the group of A and B. Conclusions The experiment shows that peripheral blood mesenchymal stem cells as the seed cells for tissue engineering,combined with porous absorbable gelatin sponge-self assembling peptide has better ability to repair bone defects,and has good application prospect,which is worthy of further research.