OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of fetuses with anomalies of the central nervous system (CNS) and summarize the outcome of the pregnancies and follow-up. METHODS: A total of 636 fetuses from June 2014 to December 2020 who were referred to the Prenatal Diagnosis Center of Nanjing Drum Tower Hospital due to abnormal CNS prompted by ultrasound were selected as the research subjects. Based on the ultrasound findings, the fetuses were divided into ventricular dilatation group (n = 441), choroid plexus cyst group (n = 41), enlarged posterior fossa group (n = 42), holoprosencephaly group (n = 15), corpus callosum hypoplasia group (n = 22), and other anomaly group (n = 75). Meanwhile, they were also divided into isolated (n = 504) and non-isolated (n = 132) groups based on the presence of additional abnormalities. Prenatal samples (amniotic fluid/chorionic villi/umbilical cord blood) or abortus tissue were collected for the extraction of genomic DNA and CMA assay. Outcome of the pregnancies and postnatal follow-up were summarized and subjected to statistical analysis. RESULTS: In total 636 fetuses with CNS anomalies (including 89 abortus tissues) were included, and 547 cases were followed up. The overall detection rate of CMA was 11.48% (73/636). The detection rates for the holoprosencephaly group, ACC group, choroid plexus cyst group, enlarged posterior fossa group, ventricular dilatation group and other anomaly group were 80% (12/15), 31.82% (7/22), 19.51% (8/41), 14.29% (6/42), 7.48% (33/441) and 9.33% (7/75), respectively. Compared with the isolated CNS anomaly group, the detection rate for the non-isolated CNS anomaly group was significantly higher (6.35% vs. 31.06%) (32/504 vs. 41/132) (χ² = 62.867, P < 0.001). Follow up showed that, for 52 fetuses with abnormal CMA results, 51 couples have opted induced labor, whilst 1 was delivered at full term with normal growth and development. Of the 434 fetuses with normal CMA results, 377 were delivered at full term (6 had developmental delay), and 57 couples had opted induced labor. The rate of adverse pregnancy outcome for non-isolated CNS abnormal fetuses was significantly higher than that of isolated CNS abnormal fetuses (26.56% vs. 10.54%) (17/64 vs. 39/370) (χ² = 12.463, P < 0.001). CONCLUSION Fetuses with CNS anomaly should be tested with CMA to determine the genetic cause. Most fetuses with negative CMA result have a good prognosis, but there is still a possibility for a abnormal neurological phenotype. Fetuses with CNS abnormalities in conjunct with other structural abnormalities are at increased risk for adverse pregnancy outcomes.
Female ; Pregnancy ; Humans ; Holoprosencephaly ; Prenatal Diagnosis/methods* ; Central Nervous System ; Fetus/abnormalities* ; Nervous System Malformations/genetics* ; Microarray Analysis ; Central Nervous System Diseases ; Cysts ; Chromosome Aberrations ; Ultrasonography, Prenatal/methods*

PURPOSE: The purpose of this study was to investigate the feasibility of shear wave ultrasound elastography for differentiating superficial benign soft tissue masses through a comparison of their shear moduli. METHODS: We retrospectively analyzed 48 masses from 46 patients from February 2014 to May 2016. Surgical excision, fine-needle aspiration, and clinical findings were used for the differential diagnosis. The ultrasonographic examinations were conducted by a single musculoskeletal radiologist, and the ultrasonographic findings were reviewed by two other radiologists who were blinded to the final diagnosis. Conventional ultrasonographic features and the median shear modulus were evaluated. We compared the median shear moduli of epidermoid cysts, ganglion cysts, and lipomatous tumors using the Kruskal-Wallis test. Additionally, the Mann-Whitney U test was used to compare two distinct groups. RESULTS: Significant differences were found in the median shear moduli of epidermoid cysts, ganglion cysts, and lipomatous tumors (23.7, 5.8, and 9.2 kPa, respectively; P=0.019). Epidermoid cysts showed a greater median shear modulus than ganglion cysts (P=0.014) and lipomatous tumors (P=0.049). CONCLUSION: Shear wave elastography may contribute to the differential diagnosis of superficial benign soft tissue masses through a direct quantitative analysis.
Biopsy, Fine-Needle ; Diagnosis ; Diagnosis, Differential ; Elastic Modulus ; Elasticity Imaging Techniques* ; Epidermal Cyst ; Ganglion Cysts ; Humans ; Lipoma ; Retrospective Studies ; Shear Strength ; Ultrasonography

BACKGROUND: The purpose of this study was to report the ultrasonographic findings and clinical features of schwannoma of the hand. METHODS: We enrolled 8 patients who were initially diagnosed with ganglion by ultrasonography but finally with schwannoma by a tissue biopsy. We retrospectively analyzed the ultrasonographic findings of eight patients including echogenicity, internal homogeneity, posterior enhancement, internal vascularity, and clinical manifestations such as the occurrence site, tenderness, Tinel's sign, and paresthesia before the surgery. RESULTS: The occurrence sites were as follows: two cases on the thenar area, one case on the second web space, three cases on the third web space, one case on the radiovolar aspect of the proximal phalanx of the index finger, and one case on the radiovolar aspect of the proximal phalanx of the middle finger. Four patients suffered from tenderness and pain on presentation, and all patients had pain around the mass before presentation. Tinel's sign was present without paresthesia in one case. Ultrasonography revealed cystic lesions showing clear margins in all cases, and two of them had acoustic enhancement without internal flow. CONCLUSIONS: It may not be easy to diagnosis schwannoma of the hand with ultrasonography alone when the lesion is small because of the similarity to the ultrasonographic findings of ganglion. Therefore, it is necessary to consider the possibility of schwannoma if a mass near the digital nerve or cutaneous nerve branch is accompanied by dull pain and tenderness.
Acoustics ; Biopsy ; Diagnosis ; Fingers ; Ganglion Cysts ; Hand* ; Humans ; Neurilemmoma* ; Paresthesia ; Retrospective Studies ; Ultrasonography

Double compression of the ulnar nerve, including Guyon's canal syndrome associated with cubital tunnel syndrome caused by the anconeus epitrochlearis muscle, is a very rare condition. We present a case of double crush syndrome of the ulnar nerve at the wrist and elbow in a 55-year-old man, as well as a brief review of the literature. Although electrodiagnostic findings were consistent with an ulnar nerve lesion only at the elbow, ultrasonography revealed a ganglion compressing the ulnar nerve at the hypothenar area and the anconeus epitrochlearis muscle lying in the cubital tunnel. Careful physical examination and ultrasound assessment of the elbow and wrist confirmed the clinical diagnosis prior to surgery.
Crush Syndrome* ; Cubital Tunnel Syndrome ; Deception ; Diagnosis* ; Elbow ; Ganglion Cysts* ; Humans ; Middle Aged ; Physical Examination ; Ulnar Nerve* ; Ultrasonography* ; Wrist

Congenital cysts of the gallbladder are extremely rare, hence only a few ciliated foregut cysts of gallbladder have been reported. We report a case of a 20-year-old woman presenting with mild right upper quadrant abdominal discomfort, with normal levels of serum bilirubin and liver function tests. Abdominal ultrasonography revealed a well-defined cystic mass measured about 2 cm attached to the neck of gallbladder, with internal echogenic debris suggesting a complicated cyst, such as a hemorrhagic cyst. Abdominal computed tomography and magnetic resonance cholangiopancreatography revealed similar findings. Laparoscopic cholecystectomy showed a slightly distended gallbladder. The size of cyst on the neck was 1.6x1.2 cm, and it contained mucosa lined by ciliated pseudostratified columnar epithelium and underlying smooth muscle layers. Histopathology identified a ciliated foregut cyst of gallbladder.
Abdomen/diagnostic imaging ; Cholangiopancreatography, Magnetic Resonance ; Cholecystectomy, Laparoscopic ; Cysts/diagnostic imaging/pathology/surgery ; Female ; Gallbladder/pathology/surgery ; Gallbladder Diseases/*diagnosis ; Humans ; Tomography, X-Ray Computed ; Ultrasonography ; Young Adult

We report the case of a giant hypothalamic hamartoma with a large intracranial cyst in a neonate. On ultrasonography, the lesion presented as a lobulated, mass-like lesion with similar echogenicity to the adjacent brain parenchyma, located anterior to the underdeveloped and compressed left temporal lobe, and presenting as an intracranial cyst in the left cerebral convexity without definite internal echogenicity or septa. The presence of a hypothalamic hamartoma and intracranial neurenteric cyst were confirmed by surgical biopsy. The association of a giant hypothalamic hamartoma and a neurenteric cyst is rare. Due to the rarity of this association, the large size of the intracranial cyst, and the resulting distortion in the regional anatomy, the diagnosis of the solid mass was not made correctly on prenatal high-resolution ultrasonography.
Anatomy, Regional ; Biopsy ; Brain ; Central Nervous System Cysts ; Diagnosis ; Hamartoma* ; Humans ; Infant, Newborn* ; Magnetic Resonance Imaging ; Neural Tube Defects ; Temporal Lobe ; Ultrasonography

Acute-onset pelvic pain is an extremely common symptom in premenopausal women presenting to the emergency department. After excluding pregnancy in reproductive-age women, ultrasonography plays a major role in the prompt and accurate diagnosis of adnexal causes of acute pelvic pain, such as hemorrhagic ovarian cysts, endometriosis, ovarian torsion, and tubo-ovarian abscess. Its availability, relatively low cost, and lack of ionizing radiation make ultrasonography an ideal imaging modality in women of reproductive age. The primary goal of imaging in these patients is to distinguish between adnexal causes of acute pelvic pain that may be managed conservatively or medically, and those requiring emergency/urgent surgical or percutaneous intervention.
Abscess ; Adnexa Uteri ; Diagnosis ; Emergency Service, Hospital ; Endometriosis ; Fallopian Tube Diseases ; Female ; Humans ; Ovarian Cysts ; Ovary ; Pelvic Pain* ; Pregnancy ; Radiation, Ionizing ; Ultrasonography*

The tarsal tunnel is located beneath the flexor retinaculum, which connects the medial malleolus and calacaneus. The tarsal tunnel contains the posterior tibialis tendon, flexor digitorum longus tendon, posterior tibial artery and vein, posterior tibial nerve, and flexor halluces longus tendon. Tarsal tunnel syndrome is a compressive neuropathy of posterior tibial nerve and its branches under the flexor retinaculum. The etiologies of tarsal tunnel syndrome are space-occupying lesion, hypertrophied flexor retinaculum, osteophytes, tarsal coalition, varicose vein, and trauma. The symptoms are foot pain and hypoesthesia or paresthesia at dermatome according to involving nerve branches. Clinical diagnosis can be obtained from a detailed history and physical examination such as compressive test at the tarsal tunnel area. Ultrasonography and magnetic resonance imaging can reveal the space-occupying lesion, such as ganglion, lipoma, and neuroma. The initial treatments of tarsal tunnel syndrome are conservative management, such as physical therapy, night splint, and steroid injection. Surgical decompression is indicated after failure of conservative managements. Variable results of surgical treatment have been reported. Favorable result after decompression could be obtained from young patients, early onset symptoms, and space-occupying lesion.
Decompression ; Decompression, Surgical ; Diagnosis ; Foot ; Ganglion Cysts ; Humans ; Hypesthesia ; Lipoma ; Magnetic Resonance Imaging ; Neuroma ; Osteophyte ; Paresthesia ; Physical Examination ; Splints ; Tarsal Tunnel Syndrome* ; Tendons ; Tibial Arteries ; Tibial Nerve ; Ultrasonography ; Varicose Veins ; Veins

This report describes a rare case of two synchronous gastric duplication cysts in a 56-year-old woman. The larger gastric duplication cyst was identified on ultrasonography and computed tomography, whereas the smaller duplication cyst was identified on gastroscopic examination. The patient underwent open surgical excision of the cysts and had an uneventful recovery.
Cysts ; diagnosis ; diagnostic imaging ; surgery ; Digestive System Surgical Procedures ; Female ; Gastroscopy ; Humans ; Middle Aged ; Stomach ; diagnostic imaging ; surgery ; Tomography, X-Ray Computed ; Ultrasonography

INTRODUCTIONEndoscopic transenteric stenting is the standard treatment for pseudocysts, but it may be inadequate for treating infected collections with solid debris. Surgical necrosectomy results in significant morbidity. Direct endoscopic necrosectomy (DEN), a minimally invasive treatment, may be a viable option. This study examined the efficacy and safety of DEN for the treatment of infected walled-off pancreatic necrosis and infected pseudocysts with solid debris.

METHODSThis study was a retrospective analysis of data collected from a prospective database of patients who underwent DEN in the presence of infected walled-off pancreatic necrosis or infected pseudocysts with solid debris from April 2007 to October 2011. DEN was performed as a staged procedure. Endoscopic ultrasonography-guided transgastric stenting was performed during the first session for initial drainage and to establish endoscopic access to the infected collection. In the second session, the drainage tract was dilated endoscopically to allow transgastric passage of an endoscope for endoscopic necrosectomy. Outcome data included technical success, clinical success and complication rates.

RESULTSEight patients with infected walled-off pancreatic necrosis or infected pseudocysts with solid debris (mean size 12.5 cm; range 7.8-17.2 cm) underwent DEN. Underlying aetiologies included severe acute pancreatitis (n = 6) and post-pancreatic surgery (n = 2). DEN was technically successful in all patients. Clinical resolution was achieved in seven patients. One patient with recurrent collection opted for surgery instead of repeat endotherapy. No procedural complications were encountered.

CONCLUSIONDEN is a safe and effective minimally invasive treatment for infected walled-off pancreatic necrosis and infected pseudocysts.

Adult ; Aged ; Cysts ; diagnosis ; diagnostic imaging ; Endoscopy ; methods ; Female ; Humans ; Male ; Middle Aged ; Minimally Invasive Surgical Procedures ; methods ; Necrosis ; Pancreas ; pathology ; Pancreatic Diseases ; diagnosis ; diagnostic imaging ; surgery ; Pancreatitis, Acute Necrotizing ; diagnostic imaging ; surgery ; therapy ; Singapore ; Stents ; Treatment Outcome ; Ultrasonography