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Thyroid‐associated ophthalmopathy (TAO) is a serious, progressive, vision‐threatening and difficult‐to‐treat organ‐specific autoimmune disease. The course, therapeutic effects and prognosis of moderate to severe TAO vary greatly. High‐dose intravenous glucocorticoid (IVGC) therapy is considered a first‐line treatment for active moderate‐to‐severe TAO, but there is still insufficient evidence regarding the treatment duration. Long‐term IVGC therapy can influence the metabolism of glucose, lipids, and bone. This study was designed to compare changes in metabolic and immunological indexes as well as the magnetic resonance imaging apparent diffusion coefficient (ADC) of the extraocular muscles after 4 and 12 weeks of IVGC therapy. Forty‐eight patients with active moderate‐to‐severe TAO were included in this retrospective cohort study. Metabolism and immunological indexes were measured before and after therapy. The ADC and clinical activity score (CAS) were used to evaluate the efficacy of treatment in these patients. We found that the patients in the 12‐week group had increased fasting plasma glucose (p = 0.004), glycated hemoglobin (p = 0.028), total cholesterol (p

Background POU3F4 is the causative gene for X-linked deafness-2 (DFNX2), characterized by incomplete partition type III (IP-III) malformation of the inner ear. The purpose of this study was to investigate the clinical characteristics and molecular findings in IP-III patients by Sanger or nanopore single-molecule sequencing. Methods Diagnosis of IP-III was mainly based on clinical characteristics including radiological and audiological findings. Sanger sequencing of POU3F4 was carried out for these IP-III patients. For those patients with negative results for POU3F4 Sanger sequencing, nanopore long-read single-molecule sequencing was used to identify the possible pathogenic variants. Hearing intervention outcomes of hearing aids (HAs) fitting and cochlear implantation (CI) were also analyzed. Aided pure tone average (PTA) was further compared between two groups of patients according to their different locations of POU3F4 variants: in the exon region or in the upstream region. Results In total, 18 male patients from 14 unrelated families were diagnosed with IP-III. 10 variants were identified in POU3F4 by Sanger sequencing and 6 of these were reported for the first time (p.Gln181*, p.Val215Gly, p.Arg282Gln, p.Gln316*, c.903_912 delins TGCCA and p.Arg205del). Four different deletions that varied from 80 to 486 kb were identified 876–1503 kb upstream of POU3F4 by nanopore long-read single-molecule sequencing. De novo genetic mutations occurred in 21.4% (3/14) of patients with POU3F4 mutations. Among these 18 patients, 7 had bilateral HAs and 10 patients received unilateral CI. The mean aided PTA for HAs and CI users were 41.1 ± 5.18 and 40.3 ± 7.59 dB HL respectively. The mean PTAs for patients with the variants located in the exon and upstream regions were 39.6 ± 6.31 versus 43.0 ± 7.10 dB HL, which presented no significant difference (p = 0.342). Conclusions Among 14 unrelated IP-III patients, 28.6% (4/14) had no definite mutation in exon region of POU3F4. However, possible pathogenic deletions were identified in upstream region of this gene. De novo genetic mutations occurred in 21.4% (3/14) of patients with POU3F4 mutation. There was no significant difference of hearing intervention outcomes between the IP-III patients with variants located in the exon region and in the upstream region.

Objective To describe a new method to measure the cochlear parameters using Otoplan software, and to compare it with the traditional method using curved multiplanar reconstruction (cMPR). Study design Retrospective analysis using internal consistency reliability and paired sample t test. Setting Tertiary referral center. Patients Thirty-four patients including 68 ears from a clinical trial were retrospectively reviewed. Main outcome measures The length, width, height (distances A, B, H), and cochlear duct length of each cochlea were measured independently using two modalities: Otoplan and cMPR. Internal consistency reliability of the two modalities was analyzed. The time spent on each measurement was also recorded. Results Otoplan software was compatible with all radiological data in this series. Distances A, B, and H showed no significant differences between Otoplan (9.33 ± 0.365, 6.61 ± 0.359, and 2.91 ± 0.312 mm) and cMPR (9.32 ± 0.314, 6.59 ± 0.342, and 2.93 ± 0.250 mm). The average cochlear duct length calculated by Otoplan was 34.37 ± 1.481 mm, which was not significantly different from that calculated by cMPR (34.55 ± 1.903mm, p = 0.215). The measurements with Otoplan had better internal consistency reliability compared with those by cMPR, and measurements with a higher peak kilovoltage (140 kVp) CT scan showed further higher internal consistency reliability. Time spent on each cochlea by Otoplan was 5.9 ± 0.69 min, significantly shorter than that by cMPR (9.3 ± 0.72 min). Conclusion Otoplan provides more rapid and reliable measurement of the cochlea than cMPR. Furthermore, it can be easily used in the laptop computer.

BackgroundThis study aimed to establish a deep learning system for detecting the active and inactive phases of thyroid-associated ophthalmopathy (TAO) using magnetic resonance imaging (MRI). This system could provide faster, more accurate, and more objective assessments across populations.MethodsA total of 160 MRI images of patients with TAO, who visited the Ophthalmology Clinic of the Ninth People’s Hospital, were retrospectively obtained for this study. Of these, 80% were used for training and validation, and 20% were used for testing. The deep learning system, based on deep convolutional neural network, was established to distinguish patients with active phase from those with inactive phase. The accuracy, precision, sensitivity, specificity, F1 score and area under the receiver operating characteristic curve were analyzed. Besides, visualization method was applied to explain the operation of the networks.ResultsNetwork A inherited from Visual Geometry Group network. The accuracy, specificity and sensitivity were 0.863±0.055, 0.896±0.042 and 0.750±0.136 respectively. Due to the recurring phenomenon of vanishing gradient during the training process of network A, we added parts of Residual Neural Network to build network B. After modification, network B improved the sensitivity (0.821±0.021) while maintaining a good accuracy (0.855±0.018) and a good specificity (0.865±0.021).ConclusionsThe deep convolutional neural network could automatically detect the activity of TAO from MRI images with strong robustness, less subjective judgment, and less measurement error. This system could standardize the diagnostic process and speed up the treatment decision making for TAO.

Objective To evaluate magnetic resonance imaging parameters, T2 signal intensity ratios (SIRs), and normalized apparent diffusion coefficients (n-ADC) of the extraocular muscles (EOMs) in the identification of different stages of Graves’ ophthalmopathy (GO) and to find out the correlation of T2-SIRs and n-ADC values with disease changes after anti-inflammatory treatment. Methods Altogether, 43 patients (86 orbits) were enrolled and classified into “active” or “inactive” stages by clinical activity score (CAS). Twenty-three (53.5%) patients received anti-inflammatory treatment and underwent a follow-up evaluation. Fifteen age- and gender-matched control participants (30 orbits) were included. T2-SIRs and n-ADC values of EOMs were calculated among GO and healthy controls and were correlated with CAS. Changes in these parameters were also evaluated before and after anti-inflammatory treatment. Results Mean T2-SIRs and n-ADC values were both significantly higher in GO patients than in controls and higher in active GO than in inactive GO. In the inactive stage, n-ADC values of inferior rectus muscles were still higher than those in healthy controls. Both T2-SIRs and n-ADC values decreased after intravenous steroid pulse therapy. The cutoff value of pretreatment n-ADC was 1.780 to detect stages with specificity of 93.7% and sensitivity of 48.3% (P = .035). Conclusion T2-SIRs and n-ADC values are valuable magnetic resonance imaging indicators of the inflammatory activity in GO by detecting involvement of EOMs. They are also ideal tools to monitor the efficacy of anti-inflammatory treatment in patients with active stage GO. n-ADC values, when combined with CAS, can be promising predictive factors in the detection of stages of diseases.

Intraosseous arteriovenous malformations in jaws (j-AVMs) are rare congenital high-flow vascular anomalies with a high tendency of life-threatening haemorrhage and are regarded as one of the most dangerous haemorrhagic diseases in maxillofacial region. Pre-treatment clinical and imaging evaluations serve as the most important diagnostic modalities. A retrospective study involved 211 patients with j-AVMs from November 2003 to November 2017 was performed. The male-to-female ratio of j-AVMs was approximately 4:3. The mean age of the patients with j-AVMs is 21.86. Bleeding was the main complaint associated with j-AVMs. J-AVMs occurred in the mandible more often than in the maxilla (64.93% and 32.23%, respectively). Most j-AVMs (95.26%) occurred in the posterior teeth region. Classical imaging features of j-AVMs included: an unclear maxillary sinus with a mild ground-glass appearance (maxillary j-AVMs) and a clear oval or irregular lucency that is mostly centred on the root of the first molar (mandibular j-AVMs) on OPGs, enhancement in the cancellous bone on contrast-enhanced CTs. Other atypical features of j-AVMs were also concluded. A comprehensive diagnose system based on clinical and imaging features of j-AVMs could provide valuable reference data for clinical management of j-AVMs and help avoid improper iatrogenic trauma or delayed treatment.

To evaluate the potential use of diffusion-weighted imaging and dynamic contrast-enhanced MRI in the differential diagnosis of non-cystic lesions in the floor of the mouth (FOM). METHODS: A total of 82 patients were included in this study. The apparent diffusion coefficient (ADC) values and time–signal intensity curves (TICs) were measured. Clinical characteristics, ADC value, and TIC pattern were compared between benign and malignant FOM lesions. Receiver operating characteristic curve and logistic regression analyses were performed to evaluate respective and combined value of ADC value and TIC pattern for differential diagnosis. The retrospective study was approved by our institutional review board, and the need for informed consent was waived. RESULTS: The area under the curve ADC value and TIC pattern were 0.71 and 0.73, respectively. The combined use of ADC value and TIC pattern increased the area under the curve value to 0.81 [95% confidence interval (CI), (0.66–0.97)]. ADC < 1.23 × 10(−3) mm(2 )s(–1) (odds ratio, 45.8; 95% CI, 2.8–737.9) and both the plateau and washout TIC patterns (OR, 6.8; 95% CI, 1.8–24.8) were significantly associated with malignancy of FOM lesions. CONCLUSIONS: Our results suggest that both diffusion-weighted imaging and DCE-MRI could contribute to the differential diagnosis of non-cystic FOM lesions, especially when used in combination.

To investigate the therapeutic efficacy of Iodine-125 (125I) seeds brachytherapy to pancreatic ductal adenocarcinoma (PDAC) xenografts via multiparametric magnetic resonance imaging (MRI) analysis. Twenty mice were implanted subcutaneously with SW-1990 PDAC xenografts. The tumor-bearing mice were randomly divided into 125I seeds group (n = 10) and blank control group (n = 10). Treatment response was monitored by diffusion-weighted magnetic resonance imaging (DW-MRI) and dynamic contrast-enhanced MRI (DCE-MRI) obtained 1 day before, 14 and 60 days after treatment. Imaging results were correlated with histopathology. 125I seeds brachytherapy resulted in a significant increase in mean tumor apparent diffusion coefficient (ADC) values compared to the control at 14 and 60 days after treatment (p

To evaluate and compare the ability of conventional MRI, diffusion-weighted imaging (DWI) and a combination of both MRI techniques to differentiate malignant and benign palatal lesions.A retrospective review of MRI findings was performed in patients with pathologically confirmed palatal lesions between January 2012 and December 2014. Each lesion was evaluated with conventional MRI characteristics, including enhancement, inner texture, margin, adjacent soft-tissue involvement and cervical lymph node, and/or apparent diffusion coefficient (ADC) value. Statistical analyses were performed to assess the differential performance of each parameter separately and together.A total of 42 patients (24 males, 18 females; age: 54.9 ± 16.4 years) were investigated. The optimal cut-off ADC value to distinguish malignant from benign lesions was 1.02 × 10(-3) mm(2) s(-1), with a sensitivity of 87.5% and a specificity of 75.0%. Conventional MRI showed a sensitivity of 87.1% and a specificity of 63.6%. Combination of conventional MRI and ADC scores increased sensitivity to 100% and specificity to 75.0%. The AUCs did not differ significantly between conventional MRI alone, DWI alone and integration of both.Additional DWI does not substantially improve differential ability of conventional MRI. However, combining ADC values with conventional MRI improves both sensitivity and specificity, which is of worth to be further validated in prospective studies with larger sample sizes.Combination of conventional MRI and ADC scores could increase the ability to differentiate malignant from benign palatal lesions, with a sensitivity of 100% and specificity of 75.0%, although without statistical significance.

Because of its rarity, the exact imaging features of ectopic thyroid are poorly known.To analyze the value of scintigraphy, computed tomography (CT), magnetic resonance imaging (MRI), and single-photon emission computed tomography (SPECT)/CT in the diagnosis of ectopic thyroid in the head and neck.First, we retrospectively analyzed the scintigraphy, CT, MRI, and SPECT/CT images from 25 masses (22 patients) suspected of head and neck ectopic thyroid from 2006 to 2017 at the Shanghai Ninth People's Hospital. Each mass was imaged by nuclear imaging (scintigraphy with or without SPECT/CT) and radiological exam (CT and/or MRI). Pathological examination was considered as the gold standard. Secondly, thirteen malignant ectopic thyroids in the head and neck reported in the English literature from 2001 to 2017 were retrieved for comparison.The accuracy of scintigraphy was not significantly higher than that of CT (94.7%, vs 89.5%, P > .99) or MRI (92.3%, vs 84.6%, P > .99). Five masses which underwent scintigraphy with SPECT/CT were all true positive, while 1 was false negative on MRI, and 2 were false negative on CT. Compared to the benign ectopic thyroids in our study, the 13 malignant ectopic thyroids retrieved from the literature were grossly the same in shape, margins, and invasion on CT or MRI.The number of patients was limited, but scintigraphy combined with SPECT/CT could be a reliable method for the diagnosis of ectopic thyroid. Benign and malignant ectopic thyroids appear to be similar in shapes, margins, and invasion on CT or MRI.