Predictors of metastasis in cervical indeterminate lymph nodes after thyroid cancer ablation by long-term ultrasound follow-up.

Objectives: To investigate the pattern of change over time and predictors for metastasis in indeterminate lymph nodes (LNs) among patients with thyroid cancer post-ablation.

Methods: We enrolled patients who developed new cervical LNs after papillary thyroid carcinoma (PTC) ablation. Changes in the ultrasound characteristics of the indeterminate LN were recorded at months 1, 3, 6 and 12 after ablation.

A Deep Learning Model System for Diagnosis and Management of Adnexal Masses.

Appropriate clinical management of adnexal masses requires a detailed diagnosis. We retrospectively collected ultrasound images of 1559 cases from the first Center of Chinese PLA General Hospital and developed a fully automatic deep learning (DL) model system to diagnose adnexal masses. The DL system contained five models: a detector, a mass segmentor, a papillary segmentor, a type classifier, and a pathological subtype classifier.

PLGA-Au-PFH-NPs-based Ultrasound Imaging in Detecting Fetal Spinal Deformities.

The study focused on the performance of ultrasound imaging in detecting fetal spinal deformities. First, the double emulsification method and the carbodiimide method were used to prepare the target Au-loaded nanorod phase-change nano-level contrast agent-PLGA-Au-PFH-NPs. After being characterized for physical and chemical properties, it was used in ultrasound imaging diagnosis.

[Comparison between Ultrasonography and CT in Diagnosis of Cervical Lymph Node Metastasis of Papillary Thyroid Carcinoma].

Objective To evaluate the efficacy of ultrasound and computed tomography (CT) in diagnosing cervical lymph node metastasis (CLNM) of papillary thyroid carcinoma (PTC). Methods The patients with PTC treated by surgery in the Chinese PLA General Hospital from January 2016 to January 2021 were selected for analysis.All the patients underwent preoperative ultrasound and CT examinations,the diagnostic values of which for CLNM were retrospectively analyzed.

Whole-exome sequencing analysis to identify novel potential pathogenetic mutations in fetuses with abnormal brain structure.

Background: Genetic mutations in genes related to the production, migration, or differentiation of cortical neurons can result in malformations of cortical development (MCDs). However, a large number of MCD-related pathogenetic mutations remain unknown. This study aimed to investigate the genetic cause of MCDs and to identify the new MCD-associated mutations through whole-exome sequencing (WES) in fetuses with abnormal brain structure.

Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield.

Objective: To investigate the genetic etiology of skeletal dysplasia in highly selected fetuses during the first and second trimesters using deep phenotyping and exome sequencing (ES).

Method: Fetuses with short femurs were identified using the established prenatal diagnostic approach. A multidisciplinary team reviewed fetal phenotypic information (prenatal ultrasound findings, fetal postmortem, and radiographs) in a cohort of highly selected fetuses with skeletal dysplasia during the first and second trimesters.

Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.

Background: Skeletal ciliopathies are a group of clinically and genetically heterogeneous disorders with the spectrum of severity spanning from relatively mild to prenatally lethal. The aim of our study was to identify pathogenic mutations in a Chinese family with two siblings presenting a Short-rib polydactyly syndrome (SRPS)-like phenotype.

Method: Karyotyping and NGS-based CNVseq were performed.

Two novel TCTN2 mutations cause Meckel-Gruber syndrome.

Meckel-Gruber syndrome (MKS) is a clinically and genetically heterogeneous ciliopathy characterized by a triad of occipital encephalocele, polycystic kidneys, and postaxial polydactyly. Pathogenesis of MKS is related to dysfunction of primary cilia. However, reports on MKS caused by Tectonic2 (TCTN2) mutations are scanty whilst.

Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese.

Background: Skeletal disorders, which have great genotypic and phenotypic varieties, are a considerable challenge to differentiate these diseases and provide a definitive prenatal diagnosis or pre-implantation. The present study aims to identify the causative mutation in two unrelated outbred Han-Chinese families.

Method: Two short-limb fetuses were referred to our hospital.

Ultrasound-guided local methotrexate treatment for cesarean scar pregnancy in the first trimester: 12 years of single-center experience in China.

Objective: To investigate the efficacy and safety of ultrasound-guided local injection of methotrexate (MTX) in the treatment of cesarean scar pregnancy (CSP) diagnosed in the first trimester.

Study Design: The clinical and imaging data of 101 CSP patients who received ultrasound-guided local injection of MTX in our hospital between January 2007 and December 2018 were retrospectively analyzed. The decline in serum β human chorionic gonadotropin (βHCG) level, size and blood flow of lesions, vaginal bleeding, liver/kidney functions, and other indicators were observed or tested after treatment on a weekly basis.

Quantitative diagnostic advantages of three-dimensional ultrasound volume imaging for fetal posterior fossa anomalies: Preliminary establishment of a prediction model.

Objectives: To quantitatively assess prenatal diagnostic performance of three-dimensional ultrasound (3D-US) for posterior fossa anomalies (PFA) and establish a preliminarily 3D-US prediction model.

Methods: Sixty singleton fetuses suspected of PFA by 2D-US presented their detailed 3D-US evaluation. The surface area of vermis (SAV), brainstem-vermis, and brainstem-tentorium angles were measured by 3D-US.

Correlations of p53 expression with transvaginal color Doppler ultrasound findings of cervical cancer after radiotherapy.

Purpose: To investigate the correlations of p53 expression with transvaginal color Doppler ultrasound findings of cervical cancer after radiotherapy (RT).

Methods: A total of 78 patients with cervical cancer (stage II and III) treated in the Oncology Department of our hospital from March 2011 to September 2017 were enrolled, and another 10 normal cervical tissue specimens were taken from the Pathology Department as controls. RT was performed to the 78 enrolled patients.

A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.

PurposeThe aim of this study was to assess the performance of a noninvasive prenatal screening (NIPS) assay for accurate fetal genotyping of pregnancies at genetic risk for autosomal recessive nonsyndromic hearing loss (ARNSHL).MethodsA total of 80 pregnant couples carrying known mutations in either the GJB2 or SLC26A4 genes associated with a risk for ARNSHL were recruited to the study. Fetal amniocyte samples were genotyped by invasive prenatal screening (IPS), whereas the cell-free fetal DNA present in maternal plasma samples was genotyped using a novel NIPS method based on circulating single-molecule amplification and resequencing technology (cSMART).

The effects of lauromacrogol injection into rat endometrial cysts: a preliminary experimental study.

Objective: To determine the effectiveness of different concentrations of lauromacrogol injections for the treatment of endometriosis in an experimental animal model and to provide an experimental basis for a pre-clinical application of the drug.

Methods: After autologous transplantation of endometrial tissue, 40 endometrial cysts were successfully established and randomly divided into three groups: a 1 % lauromacrogol injection group, a 0.5 % lauromacrogol injection group, and cysts without intervention (control group).

Advanced abdominal pregnancy: an increasingly challenging clinical concern for obstetricians.

Advanced abdominal pregnancy is rare. The low incidence, high misdiagnosis rate, and lack of specific clinical signs and symptoms explain the fact that there are no standard diagnostic and treatment options available for advanced abdominal pregnancy. We managed a case of abdominal pregnancy in a woman who was pregnant for the first time.

[Detection of fetal chromosomal aneuploidy in pregnant women at advanced maternal age during the first trimester].

Objective: To investigate the value of maternal plasma cell-free fetal DNA (cff-DNA) examination in detection of fetal chromosomal aneuploidy in pregnant women at advanced maternal ages during the first trimester of pregnancy.

Methods: A total of 136 pregnant women (11 to 13+6 gestational weeks) with advanced maternal ages were screened for fetal chromosomal aneuploidy with ultrasound and maternal plasma cff-DNA examination during March 1, 2011 to August 31, 2013, and the results were then confirmed by karyotype analysis and fluorescence in situ hybridization (FISH).

Results: Of the 136 women examined, cff-DNA screening detected chromosomal aneuploidy in 5 cases, including trisome-21 in 3 cases, trisome-18 in 1 case, and 45,X in 1 case as confirmed subsequently by karyotype analysis.

Role of preoperative sonography in the diagnosis and pathologic staging of pseudomyxoma peritonei.

Objectives: The purpose of this study was to analyze the sonographic features of pseudomyxoma peritonei and the ability of preoperative sonography to assess the pathologic grades of this disease.

Methods: Nineteen patients with pseudomyxoma peritonei who underwent preoperative sonographic examinations were included (9 male and 10 female; age range, 31-70 years). Four patients presented with disseminated peritoneal adenomucinosis, 7 with peritoneal mucinous carcinomatosis with intermediate or discordant features (intermediate-grade disease), and 8 with peritoneal mucinous carcinomatosis.

[Value of detection of cell-free fetal DNA in maternal plasma in the prenatal diagnosis of chromosomal abnormalities].

Objective: To investigate the value of detection of fetal cell-free fetal DNA (cff-DNA) in maternal plasma in the prenatal diagnosis of chromosomal abnormalities.

Methods: The plasma from 3200 gravidas (singleton with 20.3 ± 3.

Safety and efficacy of US-guided high-intensity focused ultrasound for treatment of submucosal fibroids.

Objectives: To evaluate the safety and efficacy of US-guided high-intensity focused ultrasound (HIFU) ablation for the treatment of submucosal fibroids

Methods: A total of 76 women with 78 submucosal uterine fibroids (68 type II fibroids, 10 type I fibroids) underwent US-guided HIFU ablation. The pretreatment fibroid diameter ranged from 2.4 to 13.

[Prenatal genetic test and clinical guidance for 213 hereditary deaf families].

Objective: To summarize the workflow, strategy and experience of prenatal genetic test for deafness based on the 6-year clinical practice.

Methods: There were 213 families who received prenatal test from 2005 to 2011. Among the 213 families, 205 families had had one deaf child, including 204 couples with normal hearing and one couple of the deaf husband and normal wife, 8 families including 6 couples with normal hearing and 2 deaf couples, had no child before test.

[Detection of trisomy 21 by quantitative fluorescent PCR in clinical samples undergoing prenatal diagnosis for hereditary hearing loss].

Objective: To establish the genetic test technique of trisomy 21 concurrently conducts with prenatal diagnosis for hereditary hearing loss.

Methods: Fifty-four pregnant women who underwent prenatal diagnosis for hearing loss of their fetuses in Chinese People's Liberation Army General Hospital from March 2009 to May 2010 were enrolled in this study. All probands from the deaf families have confirmed the causative mutation for hearing loss in Genetic Testing Center in Chinese People's Liberation Army General Hospital.

Study on the characteristics of contrast-enhanced ultrasound and its utility in assessing the microvessel density in ovarian tumors or tumor-like lesions.

Angiogenesis is a critical factor in tumor growth and metastasis, and microvessel density (MVD) was an important parameter for assessing vessels in tumors. However, radiologic assessment of tumor vascularity is not yet well established. In our study, we aimed at investigating the efficacy of contrast-enhanced ultrasonography (CEUS) in exploring the vascularity of the ovarian tumors or tumor-like lesions to assess the relationship between the parameters of the peak intensity (PI) and area under curve (AUC) on CEUS and MVD in ovarian masses.

Ultrasound-guided high-intensity focused ultrasound treatment for abdominal wall endometriosis: preliminary results.

Purpose: To evaluate the safety and therapeutic efficacy of ultrasound (US)-guided high-intensity focused ultrasound (HIFU) ablation for the treatment of abdominal wall endometriosis (AWE).

Materials And Methods: Twenty-one consecutive patients with AWE were treated as outpatients by US-guided HIFU ablation under conscious sedation. The median size of the AWE was 2.

[Diagnosis of spina bifida in fetuses using tomographic ultrasound imaging: a preliminary study].

Objective: To assess the value of tomographic ultrasound imaging (TUI) in the diagnosis of spina bifida in fectuses.

Methods: Eight fetuses suspected of having spina bifida following 2-D ultrasound underwent TUI examination. The fetal spines were observed on the coronal, transverse and sagittal views to confirm the location and severity of the spinal lesions, and the ultrasound findings were compared with the pathological results.