Objective:To analyze the application efficacy of employing high-density porous polyethylene （Su-por） in combination with temporoparietal fascial flaps via a minimally invasive scalp incision in auricular reconstruction. Methods:This study carried out a retrospective analysis of 50 patients （50 ears in total） who underwentprimary auricular reconstruction with a Su-por scaffold in our hospital from June 2022 to January 2024. All patients underwent primary auricular reconstruction using a minimally invasive scalp incision with high-density porous polyethylene （Su-por） and temporoparietal fascial flaps. The postoperative treatment effects and complications were statistically analyzed. Results:The reconstructed ears of all patients survived. After 6 months of follow-up, the scar hyperplasia of the scalp minimally invasive incision was not obvious in any patient, and no significant hair loss was observed. The reconstructed auricle of 48 patients had a realistic shape and strong three-dimensional sense. With the extension of follow-up time, the three-dimensional structure of the auricle became clearer, and patient satisfaction increased. Among the remaining two patients, one case of flap necrosis survived after skin grafting and dressing changes. One patient had scar hyperplasia at the incision of the reconstructed ear due to a scar-prone constitution, and the shape of the auricle was not ideal, but the scar hyperplasia at the scalp incision was not obvious. Conclusion:One-stage ear reconstruction with high-density porous polyethylene （Su-por） combined with superficial temporal fascia flap through a minimally invasive scalp incision can better show the fine structure of the reconstructed ear. The minimally invasive scalp incision can effectively reduce the occurrence of scar hyperplasia and postoperative alopecia at the scalp incision.
Humans ; Plastic Surgery Procedures/methods* ; Retrospective Studies ; Surgical Flaps ; Tissue Scaffolds ; Polyethylene ; Ear Auricle/surgery* ; Male ; Scalp/surgery* ; Female ; Skin Transplantation ; Fascia/transplantation* ; Porosity ; Adult ; Middle Aged

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

The new-generation non-invasive prenatal screening technology (NIPT2.0) is a new method successfully realized in recent years based on high-throughput sequencing to synchronously and accurately detect fetal chromosomal aneuploidies, microdeletion/microduplication syndromes and dominantly inherited monogenic disorders. NIPT2.0 can circumvent the shortcomings of previous non-invasive prenatal screening techniques (NIPT and NIPT Plus) including incapability to detect fetal monogenic disorders, insufficient accuracy of detection and low positive predictive values for certain chromosomal abnormalities (in particular trisomy 13, sex chromosomal abnormalities, and small-segment microdeletions and microduplication syndromes). How to apply NIPT2.0 reasonably and normatively to maximize its clinical value has become an issue which requires clarification. The Reproductive Health Branch of the Chinese Maternal and Child Health Care Association has organized experts to fully discuss and jointly drafted this consensus, which has put forwards suggestions over the clinical application strategy for NIPT2.0, including the scope of application, target disease, pre-test consultation, clinical application pathway, post-test genetic counseling and intervention, quality control and limitations, for the reference by peers, with a view to standardize its application and provide better clinical service.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective: To investigate the relationship between adverse childhood experiences with depression and anxiety prevention and intervention among middle school students, so as to provide evidence for preventing and intervening in depression and anxiety among adolescents. Methods: From October to November 2020, a total of 4 861 middle school students from 12 schools in a province in central China, including junior high schools, senior high schools, secondary vocational schools, and vocational high school selected by using convenient sampling method. Demographic information, adverse childhood experiences, depression and anxiety symptoms were collected. The Chi square test and multivariate Logistic regression analysis were used to analyze the data. Results: The detection rates of depression and anxiety of students in middle school were 39.0% and 52.3%, respectively. Univariate analysis showed that the total scores of adverse childhood experiences and dimensions of childhood maltreatment and neglect, family dysfunction, parent absence, and violence outside the home were significantly associated with depressive and anxiety symptoms ( χ 2=105.36, 147.12, 43.69, 46.61, 196.48; 100.06, 132.28, 26.53, 24.32, 169.94, P <0.01). After controlling variables such as age, only child, sex and economic status of family, Logistic regression showed that childhood maltreatment and neglect, family dysfunction,family absence and violence outside the home were positively associated with depressive symptoms ( OR =1.61, 1.62, 1.06,2.08, P <0.01) and anxiety symptoms ( OR =1.66, 1.50, 1.98, P <0.05). Conclusion Depressive and anxiety symptoms among middle school students are associated with adverse childhood experiences, and those who experienced childhood maltreatment and neglect and violence outside the home are at higher risk.

With the rapid development of gene editing technology, the study of spermatogonial stem cells (SSCs) holds great significance in understanding spermatogenesis and its regulatory mechanism, developing transgenic animals, gene therapy, infertility treatment and protecting rare species. Biogenesis of lysosome-related organelles complex 1 subunit 1 (BLOC1S1) is believed to have anti-brucella potential. Exploring the impack of BLOC1S1 on goat SSCs not only helps investigate the ability of BLOC1S1 to promote SSCs proliferation, but also provides a cytological basis for disease-resistant breeding research. In this study, a BLOC1S1 overexpression vector was constructed by homologous recombination. The BLOC1S1 overexpression cell line of goat spermatogonial stem cells was successfully constructed by lentivirus packaging, transfection and puromycin screening. The overexpression efficiency of BLOC1S1 was found to be 18 times higher using real time quantitative PCR (RT-qPCR). Furthermore, the results from cell growth curve analysis, flow cytometry for cell cycle detection, and 5-ethynyl-2'-deoxyuridine (EdU) staining showed that BLOC1S1 significantly increased the proliferation activity of goat SSCs. The results of RT-qPCR, immunofluorescence staining and Western blotting analyses revealed up-regulation of proliferation-related genes (PCNA, CDK2, CCND1), and EIF2S3Y, a key gene regulating the proliferation of spermatogonial stem cells. These findings strongly suggest that the proliferative ability of goat SSCs can be enhanced through the EIF2S3Y/ERK pathway. In summary, this study successfully created a goat spermatogonial stem cell BLOC1S1 overexpression cell line, which exhibited improved proliferation ability. This research laid the groundwork for exploring the regulatory role of BLOC1S1 in goat spermatogonia and provided a cell platform for further study into the biological function of BLOC1S1. These findings also establish a foundation for breeding BLOC1S1 overexpressing goats.
Animals ; Male ; Goats ; Stem Cells ; Spermatogonia/metabolism* ; Cell Proliferation ; Flow Cytometry ; Testis/metabolism*

Objective: To investigate the clinical characteristics and maternal and fetal prognosis of pregnant women with acute fatty liver of pregnancy (AFLP). Methods: The clinical data of 86 AFLP pregnant women admitted to the Third Affiliated Hospital of Guangzhou Medical University from September 2017 to August 2022 were collected, and their general data, clinical characteristics, laboratory tests and maternal and fetal outcomes were retrospectively analyzed. Results: (1) General information: the age of the 86 pregnant women with AFLP was (30.8±5.4) years, and the body mass index was (21.0±2.5) kg/m². There were 50 primiparas (58.1%, 50/86) and 36 multiparas (41.9%, 36/86). There were 64 singleton pregnancies (74.4%, 64/86) and 22 twin pregnancies (25.6%, 22/86). (2) Clinical characteristics: the main complaints of AFLP pregnant women were gastrointestinal symptoms, including epigastric pain (68.6%, 59/86), nausea (47.7%, 41/86), anorexia (46.5%, 40/86), vomiting (39.5%, 34/86). The main non-gastrointestinal symptoms were jaundice of skin and/or scleral (54.7%, 47/86), edema (38.4%, 33/86), fatigue (19.8%, 17/86), bleeding tendency (16.3%, 14/86), polydipsia or polyuria (14.0%, 12/86), skin itching (8.1%, 7/86), and 17.4% (15/86) AFLP pregnant women had no obvious symptoms. (3) Laboratory tests: the incidence of liver and kidney dysfunction and abnormal coagulation function in AFLP pregnant women was high, and the levels of blood ammonia, lactate dehydrogenase and lactic acid were increased, and the levels of hemoglobin, platelet and albumin decreased. However, only 24 cases (27.9%, 24/86) of AFLP pregnant women showed fatty liver by imageology examination. (4) Pregnancy outcomes: ① AFLP pregnant women had a high incidence of pregnancy complications, mainly including renal insufficiency (95.3%, 82/86), preterm birth (46.5%, 40/86), hypertensive disorders in pregnancy (30.2%, 26/86), gestational diabetes mellitus (36.0%, 31/86), fetal distress (24.4%, 21/86), pulmonary infection (23.3%, 20/86), disseminated intravascular coagulation (16.3%, 14/86), multiple organ dysfunction syndrome (16.3%, 14/86), hepatic encephalopathy (9.3%, 8/86), and intrauterine fetal death (2.3%, 2/86). ② Treatment and outcome of AFLP pregnant women: the intensive care unit transfer rate of AFLP pregnant women was 66.3% (57/86). 82 cases were improved and discharged after treatment, 2 cases were transferred to other hospitals for follow-up treatment, and 2 cases (2.3%, 2/86) died. ③ Neonatal outcomes: except for 2 cases of intrauterine death, a total of 106 neonates were delivered, including 39 cases (36.8%, 39/106) of neonatal asphyxia, 63 cases (59.4%, 63/106) of neonatal intensive care unit admission, and 3 cases (2.8%, 3/106) of neonatal death. Conclusions: AFLP is a severe obstetric complication, which is harmful to mother and fetus. In the process of clinical diagnosis and treatment, attention should be paid to the clinical manifestations and laboratory tests of pregnant women, early diagnosis and active treatment, so as to improve maternal and fetal outcomes.
Pregnancy ; Infant, Newborn ; Female ; Humans ; Adult ; Retrospective Studies ; Premature Birth/epidemiology* ; Pregnancy Complications/diagnosis* ; Fatty Liver/diagnosis* ; Fetal Death ; Stillbirth

OBJECTIVE：To study the effect and potential mechanism of the total flavonoids from Marchantia convoluta on anti-hepatic fibrosis in the mice. METHODS ：Seventy-two mice were randomly divided into blank group ，model group ，positive control group （colchicine 0.2 mg/kg）and M. convoluta total flavonoids high-dose ，medium-dose and low-dose groups （300，150， 75 mg/kg），with 12 mice in eac group. Except for blank group ，other groups were subcutaneously given 25％ CCl4-peanut oil solution on the back to induce liver fibrosis model. At the same time ，blank group and model group were given water intragastrically，while other groups were given relevant medicine intragastrically 20 mL/kg，once a day ，for consecutive 10 weeks. After last administration ，the serum levels of ALT and AST were detected . Histopathological changes of liver tissue in mice was observed. The levels of COL- Ⅰ，COL-Ⅲ and TGF-β1 in liver tissue were detected . The protein expression levels of α-SMA and TGF-β1，Smad2，Smad4 and Smad 7 in liver tissue were detected . The expression levels of TGF-β1，Smad2，Smad4 and Smad 7 mRNA in liver tissue were detected . RESULTS ：Compared with blank group ，the serum levels of ALT and AST in model group，the levels of COL- Ⅰ，COL-Ⅲ and TGF-β1 in liver tissue，protein expression levels of α-SMA，TGF-β1，Smad2 and Smad 4，mRNA expression levels of TGF-β1，Smad2 and Smad4 were increased significantly （P＜0.05 or P＜0.01）.The mRNA and protein expression levels of Smad 7 in liver tis sue were decreased significantly （P＜0.05）. The degree of liver tissue injury and collagen fiber hyperplasia were serious. Compared with model group ，above indexes of mice were reversed significantly in positive control group and M. convoluta total flavonoids high-dose group （P＜0.05 or P＜0.01）. Serum level of ALT ，the levels of COL- Ⅰ，mRNA and protein expression of TGF-β1，Smad2 and Smad 4 in liver tissue were decreased significantly in M. convoluta total flavonoids medium-dose group （P＜0.05 or P＜0.01）. Protein expression of Smad 2 and Smad 4 in liver tissue were decreased significantly in M. convoluta total flavonoids low-dose group （P＜0.05）. The liver injury and fibrosis of mice were relieved in administration groups. CONCLUSIONS ：M. convoluta total flavonoids possess the effect of anti-hepatic fibrosis ，the mechanism of which is related to the regulation of mRNA and protein expression of TGF-β1，Smad2，Smad4 and Smad 7 in the signaling pathway of TGF-β/Smad.

【Objective】 To explore the relationship between changes in the entorhinal cortex （EC） of traumatic brain injury （TBI） and cognitive function based on structural magnetic resonance imaging. 【Methods】 MRI was performed in 26 patients with clinically confirmed TBI after admission， and the Mini-mental State Examination （MMSE） was followed up 6 months later. The TBI patients were classified as mild TBI and moderate to severe TBI according to the post-traumatic Glasgow coma scale （GCS）. We compared the differences in age， gender， education level， hypertension， diabetes， TBI operation history， and follow-up MMSE between the two groups. Then the morphology， surface area， volume and thickness of the patient’s EC were evaluated using the visual score and Freesurfer software， and finally the correlation between EC parameters and MMSE was analyzed. 【Results】 The study included 12 cases of mild TBI and 14 cases of moderate to severe TBI. There were no statistical differences in age， gender， years of education， hypertension， diabetes or TBI operation history. However， the two groups differed significantly in follow-up MMSE. Visual evaluation showed statistical difference in the left EC scores. Structural MRI showed that the volume and thickness of left EC were statistically different between the two groups. The correlation analysis showed that there was a positive correlation between the thickness of left EC and MMSE （r=0.430， P<0.05）. 【Conclusion】 Entorhinal cortex atrophy after TBI is related to the severity of trauma， and it can reflect the long-term cognitive level of patients， which can be used as a noninvasive and reliable imaging marker for evaluating cognitive impairment after TBI.

Objective:To establish a disease risk prediction model for the newborn screening system of inherited metabolic diseases by artificial intelligence technology.Methods:This was a retrospectively study. Newborn screening data ( n=5 907 547) from February 2010 to May 2019 from 31 hospitals in China and verified data ( n=3 028) from 34 hospitals of the same period were collected to establish the artificial intelligence model for the prediction of inherited metabolic diseases in neonates. The validity of the artificial intelligence disease risk prediction model was verified by 360 814 newborns ' screening data from January 2018 to September 2018 through a single-blind experiment. The effectiveness of the artificial intelligence disease risk prediction model was verified by comparing the detection rate of clinically confirmed cases, the positive rate of initial screening and the positive predictive value between the clinicians and the artificial intelligence prediction model of inherited metabolic diseases. Results:A total of 3 665 697 newborns ' screening data were collected including 3 019 cases ' positive data to establish the 16 artificial intelligence models for 32 inherited metabolic diseases. The single-blind experiment ( n=360 814) showed that 45 clinically diagnosed infants were detected by both artificial intelligence model and clinicians. A total of 2 684 cases were positive in tandem mass spectrometry screening and 1 694 cases were with high risk in artificial intelligence prediction model of inherited metabolic diseases, with the positive rates of tandem 0.74% (2 684/360 814)and 0.46% (1 694/360 814), respectively. Compared to clinicians, the positive rate of newborns was reduced by 36.89% (990/2 684) after the application of the artificial intelligence model, and the positive predictive values of clinicians and artificial intelligence prediction model of inherited metabolic diseases were 1.68% (45/2 684) and 2.66% (45/1 694) respectively. Conclusion:An accurate, fast, and the lower false positive rate auxiliary diagnosis system for neonatal inherited metabolic diseases by artificial intelligence technology has been established, which may have an important clinical value.