OBJECTIVE: To explore the prenatal and postnatal phenotypes of 22q11.2 microdeletion syndrome (22q11.2DS) and enhance clinical understanding of this condition. METHODS: Data were collected from 86 fetuses diagnosed with 22q11.2DS at four prenatal diagnostic centers across China between January 2014 and August 2025. Prenatal imaging findings, pregnancy outcomes, and postnatal conditions were analyzed. RESULTS: Among the 86 fetuses, complete ultrasound data were available for 65 cases. Cardiovascular abnormalities were observed in 42 cases, thymic hypoplasia or aplasia in 7 cases, urinary system anomalies in 6 cases, nuchal translucency (NT) thickening in 7 cases, butterfly vertebrae, clubfoot, omphalocele and diaphragmatic hernia in 1 case each, cleft lip and palate in 2 cases, and ultrasound soft markers in 13 cases. The parents of 9 fetuses opted to continue with the pregnancy. Among these, 6 showed no significant ultrasound abnormalities and no related phenotypes postnatally, while the remaining 3 exhibited ultrasound anomalies with postnatal manifestations including developmental delay, immunodeficiency, and cardiac defects. CONCLUSION Fetuses with 22q11.2DS may exhibit various ultrasound abnormalities in multiple systems before and after birth. In addition to cardiovascular anomalies, they may also present with thymic hypoplasia or aplasia, thickened NT, and urinary abnormalities. Fetuses with thickened NT or thymic anomalies should be closely monitored, and thymic assessment should be included in routine prenatal imaging evaluations. For fetuses with 22q11.2DS who show no ultrasound abnormalities, the risk of developing severe phenotypes after birth is relatively low, but occult palate clefts and psychiatric disorders cannot be ruled out. Due to limitations in sample size and follow-up duration, above conclusions require further validation through large-scale prospective studies.
Humans ; Female ; Pregnancy ; Ultrasonography, Prenatal ; DiGeorge Syndrome/genetics* ; Adult ; Male ; Follow-Up Studies ; Fetus/diagnostic imaging* ; Phenotype ; Infant, Newborn

OBJECTIVE: To investigate the genetic etiology of a fetus diagnosed with Mandibulofacial dysostosis with microcephaly (MFDM). METHODS: A fetus that underwent prenatal diagnosis at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, on May 19, 2025 was selected for analysis. Results of fetal ultrasound findings, chromosomal karyotyping, copy number variation sequencing (CNV-seq), and whole-exome sequencing (WES) were collected. Sanger sequencing was performed for familial validation of the pathogenic variant. The Human Protein Atlas (HPA), STRING, and Simple ClinVar databases were queried to characterize the biological features of the candidate gene. Three-dimensional structures of the wild-type and variant proteins were modeled and analyzed, and the evolutionary conservation of the affected amino acid was assessed using UGENE. Prenatal phenotypes associated with EFTUD2 variants were summarized through a review of the literature. This study was approved by the Ethics Committee of Beijing Obstetrics and Gynecology Hospital, Capital Medical University (Ethics No.: 2025-KY-029-01). RESULTS: At 23⁺² weeks of gestation, ultrasound examination revealed bilateral microtia with low-set ears, mild micrognathia with a reduced mandibular-facial angle, a single umbilical artery, a slightly narrow aortic diameter, and trivial mitral regurgitation. Amniotic fluid karyotyping and CNV-seq showed no abnormalities. WES identified a de novo, previously unreported EFTUD2 variant, c.698dupA (p.V235Gfs*27), in the fetus. This frameshift variant is predicted to alter the structural integrity of the EFTUD2 protein. Literature review indicated that micrognathia and microtia or low-set ears are the most common sonographic features in fetuses with EFTUD2 variants, while secondary findings may include abnormal stomach bubble, cleft palate, single umbilical artery, gastrointestinal atresia, polyhydramnios, and reduced aortic diameter. CONCLUSION The EFTUD2: c.698dupA (p.V235Gfs*27) variant is likely the genetic cause underlying MFDM in this fetus.
Humans ; Mandibulofacial Dysostosis/diagnostic imaging* ; Microcephaly/diagnostic imaging* ; Female ; Pregnancy ; Ribonucleoprotein, U5 Small Nuclear/chemistry* ; Peptide Elongation Factors/chemistry* ; Fetus ; DNA Copy Number Variations/genetics* ; Adult ; Ultrasonography, Prenatal

Objective:To describe a low-cost, reproducible phantom model for training medical practitioners in ultrasound-guided ethanol ablation (EA) of a cystic thyroid nodule.

Methods:The model of cyst contents was created using a mixture of coffee powder, cornstarch and water to mimic colloidal contents. This was injected into the finger of a cut surgical glove secured with transparent tape to serve as an inflatable capsule and placed inside a chicken breast. This setup allows practitioners to perform key ultrasound-guided ethanol ablation techniques including spinal needle insertion, cyst aspiration, saline flushing, re-aspiration and ethanol injection.

Results:The phantom model was assembled for PhP 150.30 per unit and took approximately 5 minutes to construct. This model was demonstrated to be a cost-effective and simple method for enabling specialists to practice and enhance their skills in ultrasound-guided ethanol ablation of a cystic thyroid nodule.

Conclusion:The described phantom model provides an accessible and practical training tool for healthcare providers to gain proficiency in ultrasound-guided ethanol ablation of a cystic thyroid nodule in a safe and controlled setting prior to actual patient handling.

Testicular histology based on testicular biopsy is an important factor for determining appropriate testicular sperm extraction surgery and predicting sperm retrieval outcomes in patients with azoospermia. Therefore, we developed a deep learning (DL) model to establish the associations between testicular grayscale ultrasound images and testicular histology. We retrospectively included two-dimensional testicular grayscale ultrasound from patients with azoospermia (353 men with 4357 images between July 2017 and December 2021 in The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China) to develop a DL model. We obtained testicular histology during conventional testicular sperm extraction. Our DL model was trained based on ultrasound images or fusion data (ultrasound images fused with the corresponding testicular volume) to distinguish spermatozoa presence in pathology (SPP) and spermatozoa absence in pathology (SAP) and to classify maturation arrest (MA) and Sertoli cell-only syndrome (SCOS) in patients with SAP. Areas under the receiver operating characteristic curve (AUCs), accuracy, sensitivity, and specificity were used to analyze model performance. DL based on images achieved an AUC of 0.922 (95% confidence interval [CI]: 0.908-0.935), a sensitivity of 80.9%, a specificity of 84.6%, and an accuracy of 83.5% in predicting SPP (including normal spermatogenesis and hypospermatogenesis) and SAP (including MA and SCOS). In the identification of SCOS and MA, DL on fusion data yielded better diagnostic performance with an AUC of 0.979 (95% CI: 0.969-0.989), a sensitivity of 89.7%, a specificity of 97.1%, and an accuracy of 92.1%. Our study provides a noninvasive method to predict testicular histology for patients with azoospermia, which would avoid unnecessary testicular biopsy.
Humans ; Male ; Azoospermia/diagnostic imaging* ; Deep Learning ; Testis/pathology* ; Retrospective Studies ; Adult ; Ultrasonography/methods* ; Sperm Retrieval ; Sertoli Cell-Only Syndrome/diagnostic imaging*

The aim of this study was to investigate the trend in testicular volume changes after orchiopexy in children with cryptorchidism. The clinical data of 854 children with cryptorchidism who underwent orchiopexy between January 2013 and December 2016 in Shenzhen Children's Hospital (Shenzhen, China) were retrospectively analyzed. The mean (standard deviation) age of the patients was 2.8 (2.5) years, and the duration of follow-up ranged from 1 year to 5 years. Ultrasonography was conducted preoperatively and postoperatively. The variables analyzed included age at the time of surgery, type of surgical procedure, laterality, preoperative testicular position, preoperative and postoperative testicular volumes, and the testicular volume ratio of them. The average testicular volumes preoperatively and at 1 year, 2 years, 3 years, and 5 years postoperatively were 0.27 ml, 0.38 ml, 0.53 ml, 0.87 ml, and 1.00 ml, respectively ( P < 0.001). The corresponding testicular volume ratios were 0.67, 0.76, 0.80, 0.83, and 0.84 ( P < 0.001). The mean volume of the undescended testes was significantly smaller than the mean normative value ( P < 0.001, lower than the 10 th percentile). The postoperative testicular volumes in children with cryptorchidism were generally lower than those in healthy boys but were still greater than the 10 th percentile and exhibited an increasing trend. The older the child is at the time of surgery, the larger the gap in volume between the affected and normal testes. Although testicular volume tends to gradually increase after orchiopexy for cryptorchidism, it could not normalizes. Earlier surgery results in affected testicular volumes closer to those of healthy boys.
Humans ; Male ; Cryptorchidism/diagnostic imaging* ; Orchiopexy ; Child, Preschool ; Testis/surgery* ; Retrospective Studies ; Organ Size ; Ultrasonography ; Infant ; Child ; Postoperative Period ; Follow-Up Studies

A middle-aged patient presented with persistent purulent discharge from a scalp incision five years after undergoing craniotomy with artificial dura mater implantation. The wound showed no significant improvement despite a month of systemic antibiotic therapy and local debridement. Subsequent superficial ultrasonography revealed complete separation of the artificial dura mater implant area from the surrounding flap tissue, with a loss of local blood supply. Based on these findings, the artificial dura mater was surgically removed, and a free skin flap transplantation was performed to successfully cover the wound. The wound was well-healed at the 10-month postoperative follow-up.
Humans ; Scalp/diagnostic imaging* ; Middle Aged ; Male ; Epidural Abscess/etiology* ; Ultrasonography ; Surgical Flaps ; Surgical Wound Infection/surgery* ; Dura Mater/surgery*

Endoscopic ultrasonography (EUS) has progressed beyond diagnostic imaging to include EUS-guided tissue acquisition and EUS-directed therapies. This review provides an update on EUS-guided drainage and anastomotic procedures, and other therapeutic procedures. Today, EUS-guided drainage of symptomatic walled-off pancreatic fluid collections is the norm, with endoscopic necrosectomy as an adjunct. For high-risk surgical patients unsuitable for cholecystectomy, EUS-guided gallbladder drainage of acute cholecystitis is an option. Additionally, EUS-guided drainage of obstructed biliary and pancreatic ductal system can be performed as salvage procedures after unsuccessful endoscopic retrograde cholangiopancreatography (ERCP). Bariatric procedures such as Roux-en-Y gastric bypass alter the gastric anatomy, hindering access to the major papilla. This can be overcome by creating a conduit through the excluded stomach using EUS-directed transgastric ERCP. Gastric outlet obstruction and afferent loop syndrome can be treated using EUS-guided gastrojejunostomy. These therapeutic interventions are a major advancement in the field of interventional EUS, achieving significant clinical impact.
Humans ; Endosonography/methods* ; Drainage/methods* ; Cholangiopancreatography, Endoscopic Retrograde/methods* ; Ultrasonography, Interventional/methods* ; Anastomosis, Surgical/methods*

OBJECTIVE: To evaluate the clinical efficacy of ultrasound-guided needle knife release with different pathways for carpal tunnel syndrome (CTS). METHODS: Sixty CTS patients were randomly divided into a transverse group and a longitudinal group, with 30 patients in each group. The transverse group received the needle knife release under ultrasound above and below the median nerve along the short axis, while the longitudinal group received the needle knife release under ultrasound above the median nerve along the long axis. The patients' visual analogue scale (VAS) scores, Levine scores, and median nerve cross-section area (CSA) were assessed before treatment, on the 7th, 14th, and 30th days after treatment. The median nerve conduction indexes (motor conduction: latency [Lat], amplitude[Amp], motor conduction velocity [MCV]; sensory conduction: Lat, Amp, sensory conduction velocity [SCV]) were evaluated before treatment and on the 30th day after treatment. RESULTS: Compared before treatment, the VAS scores, Levine scores, and median nerve CSA were reduced in both groups on the 7th, 14th, and 30th days after treatment (P<0.05); the transverse group showed lower VAS and Levine scores and smaller CSA than those in the longitudinal group (P<0.05). On the 30th day after treatment, motor and sensory Lat was reduced (P<0.05), motor and sensory Amp was increased (P<0.05), and MCV and SCV were faster (P<0.05) in both groups. The transverse group had shorter Lat, higher Amp, and faster MCV and SCV than those in the longitudinal group (P<0.05). CONCLUSION The ultrasound-guided needle knife release with transverse and longitudinal pathways could both effectively alleviate pain and improve median nerve conduction in CTS patients, with the transverse pathway showing superior efficacy to longitudinal pathway.
Humans ; Carpal Tunnel Syndrome/therapy* ; Female ; Middle Aged ; Male ; Adult ; Median Nerve/physiopathology* ; Acupuncture Therapy/instrumentation* ; Treatment Outcome ; Neural Conduction ; Aged ; Ultrasonography

OBJECTIVE: To evaluate the clinical efficacy of ultrasound-guided acupuncture at myofascial trigger points (MTrPs) on treating post-stroke foot drop. METHODS: Sixty patients with post-stroke foot drop were randomly assigned to an observation group 1 (20 cases, 1 case dropped out), an observation group 2 (20 cases, 2 casses dropped out), and a control group (20 cases). The control group received conventional acupuncture at Yanglingquan (GB34), Jiexi (ST41), Taichong (LR3), Zusanli (ST36), Xuanzhong (GB39), and Qiuxu (GB40) on the affected side, once daily. In addition to the treatment of the control group , the observation group 1 received acupuncture at the tibialis anterior and gastrocnemius MTrPs, once every other day, while the observation group 2 received ultrasound-guided acupuncture at the tibialis anterior and gastrocnemius MTrPs, once every other day. All groups were treated for two weeks. Three-dimensional gait analysis was performed using an infrared motion capture system, and the Holden walking scale was used to evaluate walking ability before and after treatment in the three groups. RESULTS: Compared before treatment, the patients in the observation groups 1 and 2 showed increased walking speed (P<0.05, P<0.01), and improved Holden walking scale grades (P<0.05, P<0.01) after treatment; the patients in the observation group 2 also showed increased ankle dorsiflexion angles (P<0.05). The walking speeds of the observation groups 1 and 2 were faster than those of the control group after treatment (P<0.05), the Holden walking scale grade in the observation group 2 was superior to that in the control group (P<0.05). CONCLUSION The ultrasound-guided acupuncture at MTrPs could effectively improve gait function in post-stroke foot drop patients.
Humans ; Acupuncture Therapy ; Male ; Female ; Middle Aged ; Stroke/physiopathology* ; Aged ; Trigger Points/physiopathology* ; Gait ; Acupuncture Points ; Adult ; Ultrasonography ; Treatment Outcome ; Gait Disorders, Neurologic/etiology*

This paper analyzed the causes of peripheral nerve injury induced by acupoint injection, and proposed methods for prevention. These methods included emphasizing the physicochemical properties of medications and strengthening research on medication compatibility, classifying high-risk acupoints and establishing international standards for safe acupoint needling, standardizing clinical procedures for acupoint injection, and incorporating ultrasound technology when necessary to improve the accuracy and safety of the procedure. These strategies aimed to reduce the risk associated with the clinical application of acupoint injection.
Humans ; Peripheral Nerve Injuries/prevention & control* ; Ultrasonography ; Acupuncture Points ; Injections/adverse effects*