A clinical diagnosis and treatment strategy centered on "fetal phenotype" is the most fundamental aspect of prenatal genetic counseling. This article discusses how typical phenotypes help in determining genetic testing strategies, familiar phenotypes aid in assessing prognosis risks, atypical phenotypes require careful selection of genetic testing platforms, and the interpretation of dynamically changing phenotypes necessitates integrating genetic reports of phenotypes. It emphasizes that clinicians should integrate fetal imaging phenotypes, the degree and changes in phenotypes, medical history, and family history to determine optimal genetic counseling.

Turning to critical illness is a common stage of various diseases and injuries before death. Patients usually have complex health conditions, while the treatment process involves a wide range of content, along with high requirements for doctor′s professionalism and multi-specialty teamwork, as well as a great demand for time-sensitive treatments. However, this is not matched with critical care professionals and the current state of medical care in China. Telemedicine, which shortens the distance of medical professionals and the gap of disease diagnosis and treatments in various regions through electronic information, can effectively solve the current problem. Therefore, there is an urgent need to develop a standardized, high-quality visualization telemedicine round system .Therefore, experts have been organized to search domestic and foreign literature on telemedicine round for critically ill patients and to form this consensus based on clinical experiences so as to further improve the level of critical care treatments in regions.

Turning to critical illness is a common stage of various diseases and injuries before death. Patients usually have complex health conditions, while the treatment process involves a wide range of content, along with high requirements for doctor′s professionalism and multi-specialty teamwork, as well as a great demand for time-sensitive treatments. However, this is not matched with critical care professionals and the current state of medical care in China. Telemedicine, which shortens the distance of medical professionals and the gap of disease diagnosis and treatments in various regions through electronic information, can effectively solve the current problem. Therefore, there is an urgent need to develop a standardized, high-quality visualization telemedicine round system .Therefore, experts have been organized to search domestic and foreign literature on telemedicine round for critically ill patients and to form this consensus based on clinical experiences so as to further improve the level of critical care treatments in regions.

A clinical diagnosis and treatment strategy centered on "fetal phenotype" is the most fundamental aspect of prenatal genetic counseling. This article discusses how typical phenotypes help in determining genetic testing strategies, familiar phenotypes aid in assessing prognosis risks, atypical phenotypes require careful selection of genetic testing platforms, and the interpretation of dynamically changing phenotypes necessitates integrating genetic reports of phenotypes. It emphasizes that clinicians should integrate fetal imaging phenotypes, the degree and changes in phenotypes, medical history, and family history to determine optimal genetic counseling.

Background:Gastroesophageal reflux disease(GERD)is one of the most prevalent diseases in China,consuming substantial medical resources.Peroral endoscopic cardial constriction(PECC)represents a novel endoscopic technique for the treatment of GERD,yet its efficacy and safety are still under exploration.Aims:To explore the efficacy and safety of PECC for GERD.Methods:Literatures regarding PECC in the treatment of GERD were retrieved from CNKI,Wanfang data,VIP,China Biology Medicine disc,PubMed,Embase and Cochrane Library.The retrieval time span was from the establishment of each database to December 31,2023.Literatures were enrolled according to the inclusion and exclusion criteria,and the data were extracted.Newcastle-Ottawa scale(NOS)score was used to evaluate the quality of literature.Meta-analysis was conducted by RevMan 5.3 software.Results:A total of 11 literatures involving 265 patients with GERD were enrolled.The mean follow-up time was 4 months.Meta-analysis showed that the DeMeester score(SMD=3.00,95%CI:2.02-3.98,P<0.000 01),acid exposure time(AET)percentile(SMD=1.32,95%CI:1.02-1.63,P<0.000 01)and gastroesophageal reflux disease questionnaire(GerdQ)score(SMD=3.17,95%CI:1.91-4.43,P<0.000 01)in GERD patients were significantly decreased after PECC,while the lower esophageal sphincter pressure(LESP)was significantly increased(SMD=-4.50,95%CI:-7.45--1.55,P=0.003).All PECC procedures were completed successfully without serious complications.Conclusions:The short-term efficacy of PECC in the treatment of GERD is affirmative,and it demonstrates relatively high safety.However,its long-term efficacy needs to be further verified by subsequent research.

Background:Gastroesophageal reflux disease(GERD)is one of the most prevalent diseases in China,consuming substantial medical resources.Peroral endoscopic cardial constriction(PECC)represents a novel endoscopic technique for the treatment of GERD,yet its efficacy and safety are still under exploration.Aims:To explore the efficacy and safety of PECC for GERD.Methods:Literatures regarding PECC in the treatment of GERD were retrieved from CNKI,Wanfang data,VIP,China Biology Medicine disc,PubMed,Embase and Cochrane Library.The retrieval time span was from the establishment of each database to December 31,2023.Literatures were enrolled according to the inclusion and exclusion criteria,and the data were extracted.Newcastle-Ottawa scale(NOS)score was used to evaluate the quality of literature.Meta-analysis was conducted by RevMan 5.3 software.Results:A total of 11 literatures involving 265 patients with GERD were enrolled.The mean follow-up time was 4 months.Meta-analysis showed that the DeMeester score(SMD=3.00,95%CI:2.02-3.98,P<0.000 01),acid exposure time(AET)percentile(SMD=1.32,95%CI:1.02-1.63,P<0.000 01)and gastroesophageal reflux disease questionnaire(GerdQ)score(SMD=3.17,95%CI:1.91-4.43,P<0.000 01)in GERD patients were significantly decreased after PECC,while the lower esophageal sphincter pressure(LESP)was significantly increased(SMD=-4.50,95%CI:-7.45--1.55,P=0.003).All PECC procedures were completed successfully without serious complications.Conclusions:The short-term efficacy of PECC in the treatment of GERD is affirmative,and it demonstrates relatively high safety.However,its long-term efficacy needs to be further verified by subsequent research.

Pregnancy ; Female ; Humans ; Placenta Accreta/surgery* ; Cesarean Section ; Retrospective Studies ; Biomarkers ; Hysterectomy ; Placenta Previa ; Placenta

Objective:To investigate the effects of scarred uterus on endometrium receptivity and invasion of placental trophoblasts using a mouse model.Methods:A scarred uterus mouse model was established on 30 female Specific Pathogen Free mice. Full-layer incision on unilateral uteruses was performed simulating a cesarean section to establish the scarred uterus mice model and the contralateral uteruses were used as control. The number of implanted blastocysts between the scarred and non-scarred uteruses was compared at 4.5 d after conception (windows of implantation, WOI). The morphology of pinopod was observed under electron microscopy, and the expression of endometrial receptivity-related molecules, such as leukemia inhibitor factor (Lif) and mucin-1 (MUC1), and mRNA of Lif and MUC1 were analyzed by immunohistochemistry and reversed transcription-polymerase chain reaction technique, respectively. During the placental formation period (day 13.5, 15.5, and 17.5 after conception), the development of the decidual layer, junction layer, and labyrinth layer of the placenta were observed under microscope, and the distribution of glycogenotrophoblast cells and the location of CK7-traced invasion trophoblasts were determined with immunohistochemistry. Paired t test and one-way analysis of variance were used for statistical analysis. Results:Compared with the control side, the number of blastocysts implantation on the scarred uterus decreased significantly at 4.5 d after conception (3.50±0.54 vs. 1.33±0.81, t=7.05, P=0.001). In the WOI, the scarred uteruses were found to have decreased scores of endometrial pinopodes coverage (1.60±0.44 vs. 2.75±0.28, t=15.06, P<0.001), decreased mRNA expression of Lif (0.71±0.12 vs. 1.49±0.30, t=5.16, P=0.004) and increased MUC1 mRNA [(2.19±0.45) vs.(1.03±0.17), t=7.51, P<0.001] comparing with the control. No significant changes in the area and general morphology were observed in the three different layers on either side during the placental formation period. In terms of trophoblast invasion, the grayscales of glycogen trophoblast cells in the junction layer and near the decidua layer on the scarred side were higher than those of the control on day 15.5 (31.01±1.502 vs. 23.63±0.90, t=12.76, P<0.001) and day 17.5 (31.96±2.37 vs. 24.03±1.87, t=4.36, P=0.008), respectively. In the mature placenta on the scarred side on day 18.5, CK7+ traced trophoblast cells were abundant in the decidua layer near the maternal side, showing an overall excessive trophoblast invasion. Conclusion:Scarred uterus in mice affects the endometrial function, contributing to reduced endometrial receptivity during pregnancy and excessive invasion of trophoblasts during placental development after implantation.

Objective:To explore the effect of exercise intervention on regulation of Toll-like receptor 4 (TLR4) signaling pathway in overweight and obese pregnant women.Methods:The cohort was based on a randomized controlled trial (RCT) carried out by the same research group in Peking University First Hospital from December 2014 to July 2016. Overweight and obese patients who delivered by elective cesarean section without pregnancy complications were recruited, among which 12 cases in the exercise group and 11 cases in the control group were selected. Real-time polymerase chain reaction, Western Blot, and Luminex experiments were used to compare the expression of TLR4-myeloid differentiation factor 8(MyD88)-nuclear factor-κB(NF-κB) pathway in peripheral blood mononuclear cell (PBMC), rectus abdominis muscle, omental adipose, and subcutaneous adipose, as well as the levels of inflammatory factors (TNF-α, IL-1β, IL-10) in plasma between the two groups. Two independent samples t-test, generalized estimating equation, Chi-square test, and Pearson correlation analysis were adopted for statistical analysis. Results:(1) The expression of inflammatory factors TNF-α and IL-1β in the exercise group showed a downward trend compared with the control in the second and third trimester, but none of the differences were statistically significant (all P>0.05). (2) The mRNA expression of TLR4, MyD88, and NF-κB and the protein expression of TLR4 and NF-κB in PBMC of the exercise group were significantly lower than those in the control group during pregnancy (TLR4 mRNA: 0.06±0.03 vs 0.10±0.04 in the second trimester, 0.05±0.02 vs 0.11±0.05 in the third trimester, χ2=8.07; MyD88 mRNA: 0.09±0.03 vs 0.11±0.03 in the second trimester, 0.10±0.04 vs 0.17±0.06 in the third trimester, χ2=5.81; NF-κB mRNA: 0.10±0.03 vs 0.17±0.08 in the second trimester, 0.08±0.03 vs 0.20±0.08 in the third trimester, χ2=14.71; TLR4 protein: 1.7±0.5 vs 1.9±0.8 in the second trimester, 1.7±0.4 vs 2.3±0.8 in the third trimester, χ2=5.83; NF-κB protein: 1.0±0.4 vs 1.5±0.4 in the second trimester, 1.2±0.3 vs 1.5±0.5 in the third trimester, χ2=4.73; all P<0.05). Moreover, the differences in the mRNA expression of TLR4, MyD88, and NF-κB and TLR4 protein expression in PBMC between the two groups gradually increased. (3) NF-κB in rectus abdominis and omental adipose tissue (0.04±0.02 vs 0.08±0.04, t=－3.72; 0.25±0.05 vs 0.63±0.21, t=－5.41; both P<0.05) and TLR4 and MyD88 in subcutaneous adipose tissue (0.12±0.03 vs 0.30±0.10, t=－5.30; 0.24±0.09 vs 0.44±0.08, t=－5.38; both P<0.05) were observed a decreased mRNA level in the exercise group compared with the control group. The protein level of MyD88 and NF-κB in omental adipose tissue and NF-κB in subcutaneous adipose tissue in the exercise group were significantly lower than those in the control group (1.1±0.5 vs 2.0±0.8, t=－3.15; 1.3±0.5 vs 2.0±0.9, t=－2.23; 1.2±0.5 vs 1.9±0.8, t=－2.80, all P<0.05). (4) The expressions of TLR4 and NF-κB mRNA ( r=0.453 and 0.485) in rectus abdominis muscle, NF-κB mRNA, TLR4 and MyD88 protein ( r=0.539, 0.437 and 0.527) in omental adipose in the two groups were positively correlated with the level of fasting blood glucose ( P<0.05). Conclusions:Regular exercise during pregnancy can down-regulate the expression and activation of the TLR4-MyD88-NFκB pathway in overweight and obese pregnant women. The expression of related factors along this pathway has a certain correlation with fasting blood glucose.

The information arising from pedigree analysis is important for clinicians to understand the inheritance pattern of the disease, filter the testing data, and provide suggestions to other family members. Along with the development and clinical implementation of new genetic testing, an increasing number of "positive" results are obtained and pedigree analysis is required to further verify the pathogenicity.