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1.
Prenat Diagn ; 2024 Jun 05.
Article in English | MEDLINE | ID: mdl-38840299

ABSTRACT

OBJECTIVE: To present the prenatal sonographic features and genomic spectrum of pregnancies with fetal Bardet-Biedl syndrome (BBS). METHODS: This was a retrospective study of 11 cases with BBS diagnosed by prenatal ultrasound and confirmed by genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular testing sequencing results, and pregnancy outcomes. RESULTS: All cases had unremarkable first-trimester ultrasound scans without reporting limb malformations. All had second-trimester abnormal ultrasounds: postaxial polydactyly in nine cases (9/11), renal abnormalities in seven (7/11), reduced amniotic fluid volume in two (2/11), central nervous system anomalies in two (2/11), and ascites in three (3/11). Ten fetuses presented with at least two-system anomalies, and one (Case 11) presented with only postaxial polydactyly. Variants were detected in five genes, including BBS2, ARL6/BBS3, BBS7, CEP290/BBS14 and IFT74/BBS22. Ten pregnancies were terminated in the second trimester, while one continued to term. CONCLUSION: Enlarged hyperechogenic kidneys and postaxial polydactyly are the two most common sonographic features of fetal BBS. Prenatal diagnosis of BBS can be done with ultrasound and genetic testing although the diagnosis may be made in the second trimester.

3.
Sci Rep ; 14(1): 9992, 2024 May 01.
Article in English | MEDLINE | ID: mdl-38693305

ABSTRACT

A two-dimensional unsteady seepage model for coal using a finite element program is developed, and the temporal variations of key factors such as water pressure and hydraulic gradient are analyzed in this paper. Additionally, the triaxial rock mechanical experiment and utilized pneumatic fracturing equipment on raw coal samples to investigate both hydraulic and pneumatic fracturing processes are conducted. Through these experiments, the relationship between pressure and crack formation and expansion are examined. The analysis reveals that the pore pressure gradient at the coal inlet reaches its peak during rapid surges in water pressure but diminishes over time. Conversely, the pore pressure gradient at the outlet side exhibits a gradual increase. Hydraulic fracturing is most likely to occur at the water inlet during sudden increases in water pressure. Besides, as the permeability of coal decreases, the duration for seepage stabilization prolongs due to the intensified pore pressure gradient resulting from sudden increases in water pressure. Moreover, an extended period of high hydraulic gradient further increases the risk of hydraulic fracturing. The experimental findings indicate that coal samples initially experience tensile failure influenced by water and air pressure. Subsequently, mode I cracks form under pressure, propagating along the fracture surface and becoming visible. The main types of failure observed in hydraulic and pneumatic fracturing are diametrical tensile failure, and the development of fractures can be categorized into three distinct stages, which contains the initial stage characterized by slight volume changes while water pressure increases, the expansion stage when pressure reaches the failure strength, and the crack closure stage marked by little or even decreasing volume changes during pressure unloading. The acoustic emission signal accurately corresponds to these three stages.

4.
Biomed Opt Express ; 15(4): 2697-2707, 2024 Apr 01.
Article in English | MEDLINE | ID: mdl-38633067

ABSTRACT

For the effectiveness of a computer-aided diagnosis system, the quality of whole-slide image (WSI) is the foundation, and a useful autofocus method is an important part of ensuring the quality of WSI. The existing autofocus methods need to balance focusing speed and focusing accuracy, and need to be optimized separately for different samples or scenes. In this paper, a robust autofocus method based on fiber bundle illumination and image normalization analysis is proposed. For various application scenes, it meets the requirements of autofocusing through active illumination, such as bright field imaging and fluorescence imaging. For different structures on samples, it ensures the autofocusing accuracy through image analysis. The experimental results imply that the autofocusing method in this paper can effectively track the change of the distance from the sample to the focal plane and significantly improve the WSI quality.

5.
Materials (Basel) ; 17(8)2024 Apr 09.
Article in English | MEDLINE | ID: mdl-38673074

ABSTRACT

The foundation ring (FR) is a steel component embedded within the concrete of a wind turbine foundation, playing a pivotal role in connecting the wind turbine tower to the foundation structure. In this paper, the FR-foundation connection is equivalent to the exposed foundation and the shallow foundation by analyzing the anchorage characteristics of the foundation ring. Based on the ABAQUS concrete damaged plasticity model, full-scale modeling of the wind turbine foundation is carried out. The influence of embedment depth, ring radius and base flange width of the foundation ring on moment capacity is simulated. Based on the observed stress distributions under ultimate loads, analytical expressions were proposed to estimate the variation law of anchorage load-bearing capacity in the ultimate load state. Compared with the numerical simulation, the average errors under different influencing factors are 8.2%, 9.6% and 10.8%, respectively. The results indicate that the base flange provided the majority of the moment capacity, though the contribution of the sidewall increased to 25-50% that of the base flange in later stages.

6.
J Med Ultrasound ; 32(1): 76-78, 2024.
Article in English | MEDLINE | ID: mdl-38665348

ABSTRACT

A pregnant woman had a normal second-trimester anatomic survey at 22 weeks gestation. She was revealed to have a fetal oral mass with polyhydramnios and invisible stomach bubble by ultrasound at 28 weeks. A 50 mm × 36 mm × 42 mm, solid mass was found in the fetal mouth, filling the entire oral cavity. Fetal magnetic resonance imaging showed a homogeneous solid mass in the oral cavity compressing the hypopharynx. At 33 weeks, preterm labor occurred because of the continuation of increased amniotic fluid volume, and a female infant was vaginally delivered. The infant died shortly after tracheal intubation attempt failed. Autopsy confirmed the prenatal sonographic finding. The final pathologic diagnosis was oral immature teratoma. Our study indicates that although oral teratomas are rare, they are readily apparent at prenatal sonographic examinations. Respiratory compromise is the frequent complication of oral teratomas, which is associated with high perinatal mortality.

7.
BMC Med Genomics ; 17(1): 96, 2024 Apr 22.
Article in English | MEDLINE | ID: mdl-38650036

ABSTRACT

BACKGROUND: The molecular mechanism of fetal cystic hygroma (CH) is still unclear, and no study has previously reported the transcriptome changes of single cells in CH. In this study, single-cell transcriptome sequencing (scRNA-seq) was used to investigate the characteristics of cell subsets in the lesion tissues of CH patients. METHODS: Lymphoid tissue collected from CH patients and control donors for scRNA-seq analysis. Differentially expressed gene enrichment in major cell subpopulations as well as cell-cell communication were analyzed. At the same time, the expression and interactions of important VEGF signaling pathway molecules were analyzed, and potential transcription factors that could bind to KDR (VEGFR2) were predicted. RESULTS: The results of scRNA-seq showed that fibroblasts accounted for the largest proportion in the lymphatic lesions of CH patients. There was a significant increase in the proportion of lymphatic endothelial cell subsets between the cases and controls. The VEGF signaling pathway is enriched in lymphatic endothelial cells and participates in the regulation of cell-cell communication between lymphatic endothelial cells and other cells. The key regulatory gene KDR in the VEGF signaling pathway is highly expressed in CH patients and interacts with other differentially expressed EDN1, TAGLN, and CLDN5 Finally, we found that STAT1 could bind to the KDR promoter region, which may play an important role in promoting KDR up-regulation. CONCLUSION: Our comprehensive delineation of the cellular composition in tumor tissues of CH patients using single-cell RNA-sequencing identified the enrichment of lymphatic endothelial cells in CH and highlighted the activation of the VEGF signaling pathway in lymphoid endothelial cells as a potential modulator. The molecular and cellular pathogenesis of fetal cystic hygroma (CH) remains largely unknown. This study examined the distribution and gene expression signature of each cell subpopulation and the possible role of VEGF signaling in lymphatic endothelial cells in regulating the progression of CH by single-cell transcriptome sequencing. The enrichment of lymphatic endothelial cells in CH and the activation of the VEGF signaling pathway in lymphatic endothelial cells provide some clues to the pathogenesis of CH from the perspective of cell subpopulations.


Subject(s)
Lymphangioma, Cystic , Single-Cell Analysis , Vascular Endothelial Growth Factor Receptor-2 , Humans , Lymphangioma, Cystic/genetics , Lymphangioma, Cystic/metabolism , Lymphangioma, Cystic/pathology , Female , Vascular Endothelial Growth Factor Receptor-2/metabolism , Vascular Endothelial Growth Factor Receptor-2/genetics , Sequence Analysis, RNA , Signal Transduction , Vascular Endothelial Growth Factor A/metabolism , Vascular Endothelial Growth Factor A/genetics , STAT1 Transcription Factor/metabolism , STAT1 Transcription Factor/genetics , Transcriptome
8.
Fetal Diagn Ther ; : 1-7, 2024 Apr 17.
Article in English | MEDLINE | ID: mdl-38631314

ABSTRACT

INTRODUCTION: CHARGE syndrome is an autosomal dominant genetic disorder with known pattern of features. The aim of the study was to present the fetal features of CHARGE syndrome to gain awareness that the antenatal characteristics can be very nonspecific. CASE PRESENTATION: This was a retrospective study of 13 cases with CHARGE syndrome diagnosed by prenatal or postnatal genetic testing and physical examination. Two (15.4%; 2/13) had normal ultrasound scans during pregnancy. One (7.7%; 1/13) with first-trimester cystic hygroma presented intrauterine fetal demise at 16 weeks gestation. The remaining 10 (76.9%; 10/13) cases had abnormal ultrasound features in utero; among these, 1 had an increased nuchal translucency in the first trimester, 5 had second-trimester abnormal ultrasounds including micrognathia, cardiac defects, and facial defects, and 4 third-trimester abnormal ultrasounds including micrognathia, isolated fetal growth restriction, and polyhydramnios. Among the 11 cases with abnormal prenatal ultrasound scans, no fetus could reach the diagnostic criteria of CHARGE syndrome if only based on the results of ultrasound. However, the diagnosis was made in all cases when CHD7 defects were detected. DISCUSSION/CONCLUSION: The CHARGE syndrome presents non-specific abnormal ultrasound markers in utero. Exome sequencing in the genetic workup will aid in prenatal diagnosis of this syndrome.

10.
Small ; : e2310031, 2024 Mar 14.
Article in English | MEDLINE | ID: mdl-38483041

ABSTRACT

High efficient dispersant that meanwhile possesses additional functions is highly desirable for the fabrication of graphene-based composite. In this paper, a new reactive dispersant, multi-silanols grafted naphthalenediamine (MSiND), is synthesized, which shows superiority compared with conventional dispersants. It can not only stabilize graphene in water at a high concentration of up to 16 mg mL-1 , but also simultaneously be applicable for ethanol medium, in which the graphene concentration can be as high as 12 mg mL-1 at the weight ratio of 1:1 (MSiND:graphene). The dispersion is compatible with multi-matrixes and affinity to various substrates. In addition, MSiND exhibits excellent reactivity due to the existence of high-density silanol groups. Tough graphene coatings are constructed on glass slides and non-woven fabric simply by direct painting and dip-coating. Moreover, with the assistance of MSiND, graphene-doped phase-change coatings on hydrophobic non-woven fabric (e.g., functional mask) are prepared via the spray method. The composite coatings show enhanced mechanical strength and excellent energy storage performance, exhibiting great potential in heat preservation and thermotherapy.

11.
Sensors (Basel) ; 24(5)2024 Mar 03.
Article in English | MEDLINE | ID: mdl-38475183

ABSTRACT

Detecting road cracks is essential for inspecting and assessing the integrity of concrete pavement structures. Traditional image-based methods often require complex preprocessing to extract crack features, making them challenging when dealing with noisy concrete surfaces in diverse real-world scenarios, such as autonomous vehicle road detection. This study introduces an image-based crack detection approach that combines a Random Forest machine learning classifier with a deep convolutional neural network (CNN) to address these challenges. Three state-of-the-art models, namely MobileNet, InceptionV3, and Xception, were employed and trained using a dataset of 30,000 images to build an effective CNN. A systematic comparison of validation accuracy across various base learning rates identified a base learning rate of 0.001 as optimal, achieving a maximum validation accuracy of 99.97%. This optimal learning rate was then applied in the subsequent testing phase. The robustness and flexibility of the trained models were evaluated using 6,000 test photos, each with a resolution of 224 × 224 pixels, which were not part of the training or validation sets. The outstanding results, boasting a remarkable 99.95% accuracy, 99.95% precision, 99.94% recall, and a matching 99.94% F1 Score, unequivocally affirm the efficacy of the proposed technique in precisely identifying road fractures in photographs taken on real concrete surfaces.

12.
Heliyon ; 10(3): e25289, 2024 Feb 15.
Article in English | MEDLINE | ID: mdl-38333785

ABSTRACT

The present investigation aims to design and development of hybrid zinc oxide (ZnO) and manganese dioxide (MnO2) nanoparticles (NPs) doped-biopolymer matrix-based cost-effective technique for the synthesis of biocompatible Kaolinite/Chitosan (Ka/CS) nanocomposites (NCs) could be used as agents for wound healing due to their efficiency and low toxicity. The crystallite size, phase purity and surface morphology of the synthesised NCs were investigated systemic analytical methods. The results revealed that the metal oxide nanocomposites presented that in rod-crystalline in shape and additionally exhibits that 20-30 nm in size. In vitro antibacterial analyses demonstrates that NCs have significantly improved bactericidal inhibition efficiency when compared to the bare hybrid NPs and polymeric components. The in vitro biocompatibility observation demonstrates that prepared hybrid-NPs encapsulated NCs have enhanced cell survival rate (>90 %), which was established by MTT assay and Live/Dead fluorescence assay methods at different incubation time. The DPPH assay was used to investigate the synergistic effects of prepared dressing materials increased antioxidant activity. Preliminary research indicates that these nanocomposites, ZnO/MnO2 incorporated and decorated with Ka/CS NCs, could be a significant promoter and potential candidate for use as a robust wound healing agent in post-operative nursing care.

13.
J Clin Nurs ; 2024 Feb 20.
Article in English | MEDLINE | ID: mdl-38379369

ABSTRACT

AIMS: To develop a nomogram to provide a screening tool for recognising patients at risk of post-operative pain undergoing abdominal operations. BACKGROUND: Risk prediction models for acute post-operative pain can allow initiating prevention strategies, which are valuable for post-operative pain management and recovery. Despite the increasing number of studies on risk factors, there were inconsistent findings across different studies. In addition, few studies have comprehensively explored predictors of post-operative acute pain and built prediction models. DESIGN: A prospective observational study. METHODS: A total of 352 patients undergoing abdominal operations from June 2022 to December 2022 participated in this investigation. A nomogram was developed for predicting the probability of acute pain after abdominal surgery according to the results of binary logistic regression. The nomogram's predictive performance was assessed by discrimination and calibration. Internal validation was performed via Bootstrap with 1000 re-samplings. RESULTS: A total of 139 patients experienced acute post-operative pain following abdominal surgery, with an incidence of 39.49%. Age <60, marital status (unmarried, divorced, or widowed), consumption of intraoperative remifentanil >2 mg, indwelling of drainage tubes, poor quality sleep, high pain catastrophizing, low pain self-efficacy, and PCIA not used were predictors of inadequate pain control in patients after abdominal surgery. Using these variables, we developed a nomogram model. All tested indicators showed that the model has reliable discrimination and calibration. CONCLUSIONS: This study established an online dynamic predictive model that can offer an individualised risk assessment of acute pain after abdominal surgery. Our model had good differentiation and calibration and was verified internally as a useful tool for risk assessment. RELEVANCE TO CLINICAL PRACTICE: The constructed nomogram model could be a practical tool for predicting the risk of experiencing acute post-operative pain in patients undergoing abdominal operations, which would be helpful to realise personalised management and prevention strategies for post-operative pain. REPORTING METHOD: The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) guidelines were adopted in this study. PATIENT OR PUBLIC CONTRIBUTION: Before the surgery, research group members visited the patients who met the inclusion criteria and explained the purpose and scope of the study to them. After informed consent, they completed the questionnaire. The patients' pain scores (VAS) were regularly assessed and documented by the bedside nurse for the first 3 days following surgery. Other information was obtained from medical records.

14.
Pain Manag Nurs ; 25(2): e108-e114, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38184383

ABSTRACT

BACKGROUND: Inadequately managed postoperative pain remains a common issue. Examining factors like pain sensitivity, pain catastrophizing, and pain self-efficacy can help improve postoperative pain management. While these factors have been identified as potential predictors of acute postoperative pain, their effects have been inconsistent. Few studies have explored the interactions between these factors. AIM: To investigate the influence of preoperative pain sensitivity, pain catastrophizing, and pain self-efficacy on acute postoperative pain in abdominal surgery patients and to determine the mediating roles of pain catastrophizing and pain self-efficacy in the relationship between pain sensitivity and acute postoperative pain, as per the gate control theory. METHODS: A total of 246 patients were enrolled in this study. General information was collected before surgery, and the Pain Sensitivity Questionnaire (PSQ), Pain Catastrophizing Scale (PCS), and Pain Self-Efficacy Questionnaire (PSEQ) were administered. After surgery, patients' average pain scores over the 24 hours were reported using the Numerical Rating Scale (NRS). Correlation analyses and a structural equation model were used to examine the relationships among these variables. RESULTS: NRS scores over 3 during the 24 hours post-surgery were reported by 21.54% of patients. Postoperative acute pain was found to be associated with pain sensitivity (rs = 0.463, p < .001), pain catastrophizing (rs = 0.328, p < .001), and pain self-efficacy (rs = -0.558, p < .001). A direct effect on postoperative acute pain was exerted by pain sensitivity (effect = 0.250, p = .001), along with indirect effects through: (A) pain catastrophizing (effect = 0.028, p = .001); (B) pain self-efficacy (effect = 0.132, p = .001); and (C) the chain mediation of pain self-efficacy and pain catastrophizing (effect = 0.021, p = .008). CONCLUSIONS: The severity of postoperative acute pain can be predicted by pain self-efficacy and pain catastrophizing, and the connection between moderate pain sensitivity and postoperative acute pain severity is mediated by them. Therefore, intervention programs aimed at boosting pain self-efficacy and reducing pain catastrophizing can enhance postoperative pain outcomes for abdominal surgery patients.


Subject(s)
Acute Pain , Humans , Self Efficacy , Catastrophization , Pain, Postoperative , Pain Measurement
15.
Eur J Obstet Gynecol Reprod Biol ; 292: 263-266, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38071834

ABSTRACT

OBJECTIVE: To present the prenatal features and postnatal outcomes of pregnancies with fetal nemaline myopathy (NM). STUDY DESIGN: This was a retrospective study of nine cases with NM diagnosed by prenatal or postnatal clinical features and confirmed by genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, exome sequencing (ES) results, and pregnancy outcomes. RESULTS: All of the nine cases were detected to have NM-causing variants, involving NEB gene in 2 cases, ACTA1 in 3 cases, KLHL40 in 3 cases, and TPM2 in 1 case. Almost all (8/9) had normal first-trimester ultrasound scans except one who had an increased nuchal translucency. Seven (7/9) cases had second-trimester abnormal ultrasounds with fetal akinesia and/or extremity anomalies. Two (2/9) had only third-trimester abnormal ultrasounds with fetal akinesia and polyhydramnios, with one combined with fetal growth restriction. Four pregnancies with a positive prenatal ES were terminated, while five having not receiving prenatal ES continued to term. Only one infant survived 1 year old, and four passed away within 12 months. CONCLUSION: Prenatal ultrasound can detect clues that lead to the diagnosis of NM, such as reduced or absent fetal movements, polyhydramnios and extremity anomalies.


Subject(s)
Myopathies, Nemaline , Polyhydramnios , Pregnancy , Female , Humans , Infant , Myopathies, Nemaline/diagnostic imaging , Myopathies, Nemaline/genetics , Retrospective Studies , Ultrasonography, Prenatal/methods , Pregnancy Outcome , Muscle Proteins
16.
China Pharmacy ; (12): 707-711, 2024.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1013106

ABSTRACT

OBJECTIVE To investigate the ameliorative effects and mechanism of Sanwei ganlu on hepatic fibrosis in rats. METHODS The rats were randomly divided into normal group, model group, silibinin group (positive control, 50 mg/kg), and Sanwei ganlu low-dose, medium-dose, and high-dose groups (80, 250, 800 mg/kg). Except for normal group, hepatic fibrosis rat models were established by intraperitoneal injection of CCl4 in the other groups of rats. Starting from the 6th week of modeling administration, they were given normal saline or corresponding drugs intragastrically at the same time. At the end of the ninth-week experiment, liver and spleen indexes of rats were calculated; the pathological structure and fibrosis changes of liver tissue were observed by HE, Masson and Sirus Red staining. The contents of alanine transaminase (ALT), aspartate transaminase (AST), procollagen type Ⅲ (PC Ⅲ), collagen type Ⅳ (COL-Ⅳ), interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α) and IL-1β in serum, and hyaluronic acid (HA) and laminin (LN) in liver tissue were all detected. RESULTS Compared with the model group, the liver injury and collagen fiber deposition of rats were improved to different extents in Sanwei ganlu groups and silibinin group; the contents of ALT, AST, PC Ⅲ, COL-Ⅳ, IL-6, TNF-α and IL-1β in serum as well as the contents of HA and LN in liver tissue significantly decreased (P<0.05 or P<0.01). CONCLUSIONS Sanwei ganlu can alleviate the progression of hepatic fibrosis in rats, possibly by inhibiting the synthesis of collagen fiber, reducing transaminase content, down-regulating the levels of HA, LN, PC Ⅲ and COL-Ⅳ, and reducing the inflammatory response.

17.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1007225

ABSTRACT

Objective To explore the antitumor effects of metformin on ovarian cancer cells in vitro, particularly on tumor cell proliferation, cell cycle, apoptosis, migration, and possible mechanism. Methods Ovarian cancer cell lines (A2780, CAOV3, and SKOV3) were treated with different concentrations of metformin. Their proliferation was explored using the MTT and clone formation assays, cell migration was examined using the scratch and Transwell assays, and cell cycle and apoptosis were examined using flow cytometry. In addition, metformin’s effects on the phosphorylation of AMPK and mTOR and the expression of CXCR4 and Wnt/β-catenin protein was measured by Western blot. Results The survival rates of ovarian cancer cells decreased significantly with increasing metformin concentration and metformin treatment time. The IC50 values of metformin at 48 h for A2780, CAOV3, and SKOV3 cells were 16.36, 36.65, and 43.44 mmol/L, respectively. Compared with the control group, the clone formation ability and cell migration ability of ovarian cancer cells were significantly inhibited by metformin treatment and cell cycle arrested at the G0/G1 phase, and the apoptosis rate increased. As metformin concentration increased, the expression of phosphorylated AMPK protein gradually increased, and the expression levels of phosphorylated mTOR, CXCR4, Dvl3, β-catenin, cyclin D1, and CDK1 decreased. Conclusion Metformin exerts an antitumor effect on ovarian cancer cells, which is related to the activation of AMPK to inhibit CXCR4-mediated Wnt/β-catenin signaling pathway.

18.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1009351

ABSTRACT

OBJECTIVE@#To study the genetic polymorphisms of short-tandem repeats (STR) for the D13S317 locus among an ethnic Han Chinese population and verify a novel tri-allelic pattern identified for the locus.@*METHODS@#A total of 378 paternity test cases from Guangdong Forensic Authentication Institute from October 17, 2017 to December 28, 2017 were selected as the study subjects. A GlobalFilerTM Express kit was used for the STR genotyping. Samples suspected for having a novel tri-allelic pattern were verified with a PowerPlex 21 kit. Potential variant of the primer-binding region and flanking sequences underlying the tri-allelic pattern was excluded by molecular cloning and sequencing.@*RESULTS@#Six alleles were detected for the D13S317 locus, with the characteristic distribution frequencies being 8 (29.1%), 9 (13.1%), 10 (15.21%), 11 (24.21%), 12 (13.89%) and 13 (3.44%), respectively. In one of the families, the D13S317 locus of the proband was suspected to harbor a triband allele (8, 9, 10). A re-test has confirmed the result of initial test. Molecular cloning and sequencing analysis of the D13S317 locus in the proband and his daughter has failed to find allelic variants in the primer-binding region and flanking sequence, which has confirmed the novel tri-allelic pattern for the locus.@*CONCLUSION@#A novel type 2 tri-allelic pattern (8, 9, 10) at the D13S317 locus has been identified among the ethnic Han Chinese population. The pattern has not been transmitted to the female offspring, and has been included in the international STRBase database for the first time.


Subject(s)
Humans , Alleles , China , Cloning, Molecular , Gene Frequency , Genetics, Population , Microsatellite Repeats , Polymorphism, Genetic , East Asian People/genetics
19.
Eur J Obstet Gynecol Reprod Biol ; 293: 115-118, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38141485

ABSTRACT

OBJECTIVE: To analyze the risk for genetic aberrations and pregnancy outcomes in pregnancies with isolated polyhydramnios. STUDY DESIGN: This was a retrospective study of singleton pregnancies complicated by isolated polyhydramnios that underwent genetic amniocentesis between 2016 and 2021. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, chromosomal microarray results, and pregnancy outcomes. RESULTS: A total of 94 singleton pregnancies were included. Three (3.2%) cases with chromosomal abnormalities were detected, including 2 case of trisomy 21 and 1 of 22q21.1 microdeletion. One case was diagnosed as Prader-Willi syndrome caused by maternal uniparental disomy of chromosome 15. Perinatal death occurred in 1 case with severe polyhydramnios, and was retrospectively diagnosed as Bartter syndrome. Of the 90 infants survived, two were identified to have single gene disorders after birth by whole exome sequencing. CONCLUSION: We first attempted to determine the value of exome sequencing in pregnancies with isolated polyhydramnios. Our results warrant more studies to evaluate advanced genetic testing technologies used in such pregnancies.


Subject(s)
Polyhydramnios , Humans , Pregnancy , Female , Retrospective Studies , Polyhydramnios/diagnostic imaging , Polyhydramnios/genetics , Chromosome Aberrations , Pregnancy Outcome , Amniocentesis
20.
Adv Sci (Weinh) ; 11(9): e2305508, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38145957

ABSTRACT

Hepatocellular carcinoma (HCC) is acknowledged as an immunosuppressive neoplasm, whereby the inactive microenvironment facilitates immune tolerance and evasion of HCC. Post-surgical resected liver cancer exhibits a proclivity for relapse, rendering prevention of recurrence challenging as it may transpire at any point subsequent to surgery. Among the various anti-recurrence interventions, the primary clinical approach involving the administration of regimens atezolizumab and bevacizumab (A+T) is deemed the most efficacious in reversing the tumor microenvironment, albeit still lacking in complete satisfaction. Therefore, the objective is to utilize a recently developed block copolymer as a protective carrier for two specific monoclonal antibody drugs. Subsequently, a modified hemostatic hydrogel will be synthesized for application during hepatic surgery. The immunotherapy impact of this approach is significantly prolonged and intensified due to the combined hemostasis properties and controlled release of the constituents within the synthesized nanocomposite hydrogel. Furthermore, these nanocomposite hydrogels exhibit remarkable efficacy in preventing postoperative wound bleeding and substantially enhancing the safety of liver cancer resection. This research on the anti-recurrence hydrogel system presents a novel therapeutic approach for addressing local recurrence of liver cancer, potentially offering a substantial contribution to the field of surgical treatment for liver cancer in the future.


Subject(s)
Carcinoma, Hepatocellular , Liver Neoplasms , Nanoparticles , Humans , Carcinoma, Hepatocellular/surgery , Liver Neoplasms/surgery , Blood Loss, Surgical , Hydrogels/therapeutic use , Neoplasm Recurrence, Local/prevention & control , Neoplasm Recurrence, Local/pathology , Nanoparticles/therapeutic use , Tumor Microenvironment
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