US of thyroid nodules: can AI-assisted diagnostic system compete with fine needle aspiration?

OBJECTIVES: Artificial intelligence (AI) systems can diagnose thyroid nodules with similar or better performance than radiologists. Little is known about how this performance compares with that achieved through fine needle aspiration (FNA). This study aims to compare the diagnostic yields of FNA cytopathology alone and combined with BRAFV600E mutation analysis and an AI diagnostic system. METHODS: The ultrasound images of 637 thyroid nodules were collected in three hospitals. The diagnostic efficacies of an AI diagnostic system, FNA-based cytopathology, and BRAFV600E mutation analysis were evaluated in terms of sensitivity, specificity, accuracy, and the κ coefficient with respect to the gold standard, defined by postsurgical pathology and consistent benign outcomes from two combined FNA and mutation analysis examinations performed with a half-year interval. RESULTS: The malignancy threshold for the AI system was selected according to the Youden index from a retrospective cohort of 346 nodules and then applied to a prospective cohort of 291 nodules. The combination of FNA cytopathology according to the Bethesda criteria and BRAFV600E mutation analysis showed no significant difference from the AI system in terms of accuracy for either cohort in our multicenter study. In addition, for 45 included indeterminate Bethesda category III and IV nodules, the accuracy, sensitivity, and specificity of the AI system were 84.44%, 95.45%, and 73.91%, respectively. CONCLUSIONS: The AI diagnostic system showed similar diagnostic performance to FNA cytopathology combined with BRAFV600E mutation analysis. Given its advantages in terms of operability, time efficiency, non-invasiveness, and the wide availability of ultrasonography, it provides a new alternative for thyroid nodule diagnosis. CLINICAL RELEVANCE STATEMENT: Thyroid ultrasonic artificial intelligence shows statistically equivalent performance for thyroid nodule diagnosis to FNA cytopathology combined with BRAFV600E mutation analysis. It can be widely applied in hospitals and clinics to assist radiologists in thyroid nodule screening and is expected to reduce the need for relatively invasive FNA biopsies. KEY POINTS: • In a retrospective cohort of 346 nodules, the evaluated artificial intelligence (AI) system did not significantly differ from fine needle aspiration (FNA) cytopathology alone and combined with gene mutation analysis in accuracy. • In a prospective multicenter cohort of 291 nodules, the accuracy of the AI diagnostic system was not significantly different from that of FNA cytopathology either alone or combined with gene mutation analysis. • For 45 indeterminate Bethesda category III and IV nodules, the AI system did not perform significantly differently from BRAFV600E mutation analysis.

EGF signaling promotes the lineage conversion of astrocytes into oligodendrocytes.

BACKGROUND: The conversion of astrocytes activated by nerve injuries to oligodendrocytes is not only beneficial to axonal remyelination, but also helpful for reversal of glial scar. Recent studies have shown that pathological niche promoted the Sox10-mediated astrocytic transdifferentiation to oligodendrocytes. The extracellular factors underlying the cell fate switching are not known. METHODS: Astrocytes were obtained from mouse spinal cord dissociation culture and purified by differential adherent properties. The lineage conversion of astrocytes into oligodendrocyte lineage cells was carried out by Sox10-expressing virus infection both in vitro and in vivo, meanwhile, epidermal growth factor (EGF) and epidermal growth factor receptor (EGFR) inhibitor Gefitinib were adopted to investigate the function of EGF signaling in this fate transition process. Pharmacological inhibition analyses were performed to examine the pathway connecting the EGF with the expression of oligodendrogenic genes and cell fate transdifferentiation. RESULTS: EGF treatment facilitated the Sox10-induced transformation of astrocytes to O4+ induced oligodendrocyte precursor cells (iOPCs) in vitro. The transdifferentiation of astrocytes to iOPCs went through two distinct but interconnected processes: (1) dedifferentiation of astrocytes to astrocyte precursor cells (APCs); (2) transformation of APCs to iOPCs, EGF signaling was involved in both processes. And EGF triggered astrocytes to express oligodendrogenic genes Olig1 and Olig2 by activating extracellular signal-regulated kinase 1 and 2 (Erk1/2) pathway. In addition, we discovered that EGF can enhance astrocyte transdifferentiation in injured spinal cord tissues. CONCLUSIONS: These findings provide strong evidence that EGF facilitates the transdifferentiation of astrocytes to oligodendrocytes, and suggest that targeting the EGF-EGFR-Erk1/2 signaling axis may represent a novel therapeutic strategy for myelin repair in injured central nervous system (CNS) tissues.

Ultrasound gray scale ratio for differential diagnosis of papillary thyroid microcarcinoma from benign micronodule in patients with Hashimoto's thyroiditis.

BACKGROUND: To investigate the diagnostic value of ultrasound gray scale ratio (UGSR) in differentiating papillary thyroid microcarcinomas (PTMCs) from benign micronodules (BMNs) in patients with Hashimoto's thyroiditis (HT). METHODS: The ultrasound images of 285 PTMCs (from 247 patients) and 173 BMNs (from 140 patients) in the HT group, as well as 461 PTMCs (from 417 patients) and 234 BMNs (from 197 patients) in the non-HT group were retrospectively analyzed. The diagnosis of all cases was confirmed by histopathological examinations. The gray scale values of the nodules and surrounding thyroid tissues were measured and subsequently the UGSRs were calculated. Receiver operating characteristic curve analysis was used to determine the area under the curve (AUC), optimal UGSR threshold, sensitivity and specificity in differentiating PTMCs and BMNs in the two groups. RESULTS: The UGSR of PTMC and BMN was 0.52 ± 0.12 and 0.85 ± 0.24 in the HT group (P < 0.001), and 0.57 ± 0.13 and 0.87 ± 0.20 in the non-HT group (P < 0.001), respectively. The difference in PTMC-UGSR was significant between the two groups (P < 0.001), whereas BMN-UGSR did not differ between the two groups (P = 0.416). The AUC, optimal UGSR threshold, sensitivity and specificity of UGSR for differentiating PTMC and BMN in the HT and non-HT group were 0.890 versus 0.901, 0.68 versus 0.72, 91.23% versus 90.67%, and 77.46% versus 82.05%, respectively. CONCLUSIONS: The USGR of the HT group was lower than that of the non-HT group. Moreover, UGSR exhibited important diagnostic value in differentiating PTMC from BMN in both HT and non-HT groups.

[Genetic analysis and pathological features of one 46,XX testicular disorder of sex development cases with prostate germ cell tumor].

OBJECTIVE: To analyze the clinical and genetic characteristics of a 46,XX case of testicular disease with prostate germ cell tumor and explore its pathogenesis. METHODS: The clinical features and pathological examination of the patient were reviewed, and the genetic basis was analyzed by chromosome karyotyping analysis and fluorescence in situ hybridization. RESULTS: The patient had slightly short stature, small testicles and large breast. Serum alpha fetoprotein was significantly increased, along with increased follicle stimulating hormone, luteinizing hormone and prolactine, and lower level of testosterone. The karyotype was 46,XX. Fluorescence in situ hybridization has identified the presence of SRY gene at the end of short arm of one X chromosome. The pathological diagnosis was primary germ cell tumor of prostate, mainly of yolk sac tumor type. CONCLUSION: A rare case of 46,XX testicular disorder of sex development combined with germ cell tumor of the prostate was diagnosed, which has enriched the phenotype spectrum of the disease and provided clues for the treatment of the disease.

LncRNA MCF2L-AS1 aggravates the malignant development of colorectal cancer via targeting miR-105-5p/RAB22A axis.

BACKGROUND: Colorectal cancer (CRC) represents one of the major malignant cancers in the world. It has been demonstrated that long non-coding RNAs (lncRNAs) can cause great influences on various human cancers. Though MCF.2 cell line derived transforming sequence like antisense RNA 1 (MCF2L-AS1) and its carcinogenic effect in CRC has been elucidated by several previous researches, the underlying mechanism remains unknown. AIM: We aimed at exploring the function and regulatory mechanism of MCF2L-AS1 in CRC. METHODS: MCF2L-AS1 expression in CRC cells was tested via RT-qPCR assay. The effects of MCF2L-AS1 on the biological properties of CRC cells were testified through functional experiments. The molecular mechanism of MCF2L-AS1 was verified through mechanism experiments. RESULTS: MCF2L-AS1 was highly expressed in CRC cells, and it could enhance the proliferation, migration, invasion and epithelial-mesenchymal transition (EMT) process of CRC cells. MiR-105-5p was sponged by MCF2L-AS1 in CRC cells and Ras-related protein Rab-22A (RAB22A) was verified to be the downstream target of miR-105-5p. It was verified through rescue assays that RAB22A overexpression or miR-105-5p silencing could reverse the repressive impact of MCF2L-AS1 silencing on CRC progression. CONCLUSION: MCF2L-AS1 accelerated the malignant development of CRC cells by targeting the miR-105-5p/RAB22A axis.

[Analysis of a infertile female with ring 21 chromosome using combined techniques].

OBJECTIVE: To investigate clinical phenotype and genetic characteristics of a 30-year-old infertile female carrying a mosaic ring 21 chromosome. METHODS: A combination of techniques including G-banding, C-banding, fluorescence in situ hybridization (FISH) and SNP array were performed to investigate the breaking point of the r(21). RESULTS: The karyotype of the patient was mos 46,XX,r(21)[166]/46, XX,der(21)[60]/45, XX, -21[20]/46, XX,dic r(21)[4].ish del(21)(q22.2?)(21qter-, AML1+, D21S259/D21S341/D21S342+). arr 21q22.3(43 457 934-48 093 361) × 1, 21q22.2q22.3(40 218 429-43 457 934)× 1-2. The karyotypes of her parents were both normal. CONCLUSION: Clinical phenotypes of patients carrying a ring 21 mainly depends on the percentage of abnormal cells and the deleted chromosomal fragment. The small uterus and oligomenorrhea in our patient may be attributed to the mosaic ring 21 chromosome.

Gadolinium deposition in the liver and brain in a rat model with liver fibrosis after intravenous administration of gadoxetate disodium.

Objectives: To investigate gadolinium deposition in the liver and brain in a rat model with liver fibrosis (LF) after intravenous administration of gadoxetate disodium (GD) and the histological effects of gadolinium deposition in the liver and brain. Methods: Adult male Sprague-Dawley rats were randomly assigned to one of the three groups: 1) LF group received intraperitoneal injection of carbon tetrachloride (CCl4) for 9 weeks alone; 2) LF&GD group received CCl4 and intravenous administration of GD (for 5 consecutive days); 3) GD group received olive oil and GD. Seven days after the final injection of GD, the deep cerebellar nuclei (DCN) and liver were excised to determine gadolinium concentrations via inductively coupled plasma mass spectrometry, and histologic staining was performed. Bonferroni's post-hoc test and Wilcoxon rank sum test were used to compare the differences between the three groups. Results: The concentrations of retained gadolinium in the liver in the LF&GD group (2.18 ± 0.44 µg/g) were significantly greater compared to the LF group (0.02 ± 0.01 µg/g, P < 0.001) and GD group (0.37 ± 0.11 µg/g, P < 0.001). Also, the concentrations of retained gadolinium in DCN were increased in the LF&GD group (0.13 ± 0.06 µg/g) compared to the LF group (0.01 ± 0.00 µg/g, P < 0.001) and GD group (0.06 ± 0.02 µg/g, P = 0.019). No histopathological alterations were detected in the liver and DCN between LF&GD group and LF group. Conclusions: LF aggravated gadolinium deposition in the liver and DCN after administration of GD. However, no significant acute histological alterations were observed due to gadolinium deposition.

Adult Primary Pineal Alveolar Rhabdomyosarcoma with FOXO1 Gene Rearrangement and OLIG2 Expression: A Rare Case Report and Literature Review.

Alveolar rhabdomyosarcoma is a common malignant soft tissue tumor in child and adolescents. Intracranial alveolar rhabdomyosarcoma in adults is rare, especially in the pineal region. We present a case of primary alveolar rhabdomyosarcoma of the pineal gland in a 36-year-old Chinese male with a chief complaint of dizziness, headache and a loss of balance when walking. Imaging identified a space-occupying mass in the pineal region with obstructive hydrocephalus. An endoscopic-assisted pineal mass resection was performed. Pathology revealed a solid, sheet-like growth of medium-sized, round or oval cells with map-like necrosis and some rhabdomyoblasts. The tumor cells were diffusely positive for desmin, myogenin, MyoD1, ALK, and OLIG2. Fluorescence in situ hybridization (FISH) detected FOXO1 gene rearrangement. This rare case is presented to expand the knowledge of pineal gland tumors and alert us to pay attention to the differential diagnosis of OLIG2-positive round-cell tumors of the central nervous system.

Intravascular fasciitis involving the external jugular vein and subclavian vein: A case report.

BACKGROUND: Intravascular fasciitis (IVF) is a rare nodular fasciitis that often involves the layers and lumens of blood vessels; therefore, it is easily misdiagnosed as a malignant tumor with invasion into blood vessels. CASE SUMMARY: A 13-year-old boy was admitted due to a mass on the left side of his neck. Duplex ultrasonography revealed a circular solid hypoechoic mass in the external jugular vein, and magnetic resonance imaging revealed an enhanced longitudinal mass-like lesion in the left supraclavicular fossa. Surgical treatment was arranged and completed, histopathological analysis showed a large amount of spindle cell proliferation, and immunohistochemistry showed that the spindle cells were positive for the expression of vimentin, caldesmon, and smooth muscle actin and negative for the expression of S-100 protein, desmin, CD34, and c-kit; Ki-67 staining revealed a low proliferative index (5%-10%), which confirmed the differentiation characteristics of myofibroblasts. Fluorescence in situ hybridization detected the rearrangement of USP6. IVF was subsequently diagnosed. CONCLUSION: IVF is characterized by intraluminal, intramural and extramural involvement of small to large arteries or veins. Unless the doctor has a deep understanding of the disease or suspects that there is an initial indicator, IVF may be confused with other intravascular malignancies, leading to unnecessary radical surgery. Imaging examination combined with histopathological examination can improve the diagnostic accuracy of this disease.

Cardiac myxoma shedding leads to lower extremity arterial embolism: A case report.

BACKGROUND: Left cardiac myxoma (CM) is the most common benign tumor of primary cardiac tumors, but because of its special position caused by pathological physiology change, caused by the complications of the heavier, the surface is often accompanied by blood clots, once fall out, it causes peripheral vascular embolization, such as acute lower limb artery embolization, harmfulness is large, high morbidity, and easy to occur repeatedly. CASE SUMMARY: A 67-year-old male patient suddenly appeared numbness and weakness of the left lower limb and could not walk without obvious incentive. The patient was finally diagnosed as left CM complicated with acute lower limb arterial embolism after completing cardiac ultrasound, computer tomography angiography, and histopathological analysis, such as hematoxylin-eosin stain staining, immunohistochemistry and special staining including alcian blue staining and periodic acid schiff staining. Arterial thrombosis was removed successfully by femoral artery thrombectomy, postoperative numbness and weakness of the patient's left lower limb disappeared, skin temperature became warm, and dorsal foot artery pulsation was accessible. The patient was readmitted to the hospital 8 mo after discharge for left atrial mass resection, and was diagnosed as CM by postoperative histopathological examination. CONCLUSION: Although CM is rare, it may be considered as the source of embolism in patients with acute limb ischemia. Repeated loss of thrombus on the tumor and its surface may lead to repeated embolism of peripheral vessels. Cardiac ultrasound is helpful for early diagnosis. Here, we use this case report to highlight left CM as an important cause of acute limb ischemia and to report our experience in the diagnosis and treatment of lower limb arterial embolism caused by CM detachment.

Diagnostic Performance Using Automated Breast Ultrasound System for Breast Cancer in Chinese Women Aged 40 Years or Older: A Comparative Study.

The purpose of this study was to investigate the diagnostic performance of the automated breast ultrasound system (ABUS) compared with hand-held ultrasonography (HHUS) and mammography (MG) for breast cancer in women aged 40 y or older. A total of 594 breasts in 385 patients were enrolled in the study. HHUS, ABUS and MG exams were performed for these patients. Follow-up and pathologic findings were used as the reference standard. Based on the reference standard, 519 units were benign or normal and 75 were malignant. The sensitivity, specificity, accuracy and Youden index were 97.33%, 89.79%, 90.74% and 0.87 for HHUS; 90.67%, 92.49%, 92.26% and 0.83 for ABUS; 84.00%, 92.87%, 91.75% and 0.77 for MG, respectively. The specificity of ABUS was significantly superior to that of HHUS (p = 0.024). The area under the receiver operating characteristic curve was 0.936 for HHUS, which was the highest, followed by 0.916 for ABUS and 0.884 for MG. However, the difference was not statistically significant (p > 0.05). In conclusion, the diagnostic performance of ABUS for breast cancer was equivalent to HHUS and MG and potentially can be used as an alternative method for breast cancer diagnosis.

Sarcomatoid carcinoma involving the nasal cavity and paranasal sinus: a rare and highly progressive tumor.

Sarcomatoid carcinoma of nasal cavity and paranasal sinuses is an extremely rare malignant neoplasm. We report a case of sarcomatoid carcinoma arising in the left-side nasal cavity and paranasal sinuses in a 65-year-old man who was hospitalized for left-side nasal epistaxis, odor sensation. Histopathologic examination revealed the tumor was composed of pleomorphic spindle and round cells with frequent mitosis, and no carcinomatous component was recognized. Immunohistochemistry revealed coexpression of cytokeratin and vimentin by the tumor cells, whereas expressions of EMA, S-100, HMB-45, Melan-A, LCA, MyoD1, CD34, CK7, F8 and desmin were negative. The diagnosis was sarcomatoid carcinoma of nasal cavity and paranasal sinuses. The neoplasm was partial resected by nasal endoscopic surgery following chemoradiation therapy immediately. But it was still progressing rapidly, and had a poor prognosis.

Morphological alteration of Golgi apparatus and subcellular compartmentalization of TGF-beta1 in Golgi apparatus in gerbils following transient forebrain ischemia.

Golgi apparatus (GA) is a very important organelle involved in the metabolism of numerous proteins. TGF-beta1 plays an important role in supporting neuronal survival after ischemic insults. Little is known, however, about the morphological alteration of GA and subcellular compartmentalization of TGF-beta1 in brain after ischemia. Therefore, our present study was designed to check for GA morphological alterations and TGF-beta1 subcellular localization. GA immunoreactivities were examined in the somatosensory cortex of gerbils after 10 min transient forebrain ischemia. Confocal Immunofluorographs of TGF-beta1 and TGN38 were also taken. Results indicated that no fragmentation of GA was found in gerbils of norm, shams and 6, 24 and 72 h postocclusion, but some of the cortical cells showed fragmentation of GA in gerbils 7 days postocclusion. TGF-beta1 was colocalized with TGN38, a marker molecule for the GA. We conclude that there was morphological alterations of GA and TGF-beta1 was present in GA in the somatosensory cortex after 10 min ischemia.