Purpose Explore the predictive value of nomograms based on enhanced CT radiomics for invasiveness of thymic epithelial tumor.Materials and Methods The clinical and imaging data from 155 cases confirmed with thymic epithelial tumors at the First Affiliated Hospital of Wannan Medical College from January 2015 to January 2023 were retrospectively collected.All cases were randomly divided into training(n=108)and validation(n=47)groups in a 7∶3 ratio.The radiomics features from venous phase images were extracted.The least absolute shrinkage and selection operator algorithm for dimensionality reduction were utilized to establish radiomics labels and calculate the Rad-score.Univariate and multivariate regression analyses were conducted to identify independent risk factors.Imaging feature models,Rad-score and imaging omics clinical combined model were constructed to plot the corresponding nomograms.The diagnostic performance and clinical benefits of the models were evaluated via receiver operating characteristic curves and decision curves.The DeLong test was applied to compare area under the curve differences between models and used calibration curves to assess nomograms calibration.Results 16 optimal image omics features were selected by dimensionality reduction.Logistic regression analysis showed that tumor morphology(OR=2.932,P=0.025),peripheral tissue invasion(OR=11.461,P=0.005)and Rad-score(OR=255.27,P=0.002)were independent risk factors.The area under the curve in the training set and the verification set were 0.852 and 0.831,respectively.Compared with the image feature model and Rad-score in the training set,the differences were statistically significant(Z=3.607,2.270,P<0.05).The threshold probability of the column chart model training set was between 0.08 and 0.88 for clinical benefit.Conclusion The combined model nomograms based on enhanced CT radiomics and clinical features can effectively predict thymic epithelial tumor invasiveness and assist clinicians in formulating precise treatment plans before surgery.

Objective:To summarize the clinical and imaging features of 10 patients with genetically diagnosed neuronal intranuclear inclusion disease (NIID) to avoid clinical misdiagnosis and mismanagement of NIID.Methods:Ten patients with NIID, admitted to our hospital from January 2020 to March 2022, were chosen in our study. All patients were confirmed as having NIID by NOTCH2NLC gene assay. Their clinical data, gene detection results and skin pathological results were collected and anlyzed. Results:These patients aged from 57 to 84 years, including 8 females. The episodic symptoms as main symptoms were noted in 6 patients, including 3 patients with encephalopathy, 1 patient with TGA, 1 patient with stroke-like episode, and 1 patient with migraine-like symptoms. Chronic progressive symptoms as main symptoms were noted in 4 patients, including 3 patients with dementia and 1 patient with Parkinson's disease. There were characteristic linear hyper-intensities in diffusion weighted imaging (DWI) in the corticomedullary junction predominantly in the frontal lobes. White matter lesions appeared in T2 Flair might have been noted years before lesions appeared in DWI, with wider ranges. All had GGC repeated expansion in NOTCH2NLC gene in non-coding area, with mutation number>60. Skin biopsy was performed in 6 patients, showing the formation of intranuclear inclusion bodies in different cells; and ubiquitin and P62 were found positive in immunohistochemical staining. Conclusions:NIID patients have large clinical heterogeneity; most patients have episodic symptoms as main manifestations, often accompanied by chronic progressive symptoms; stroke attack and migraine are rare clinical phenotypes of NIID. The high signal at the cortical medullary junction in DWI is a characteristic imaging change.

Objective:To report 8 patients of sporadic Creutzfeldt-Jakob disease (sCJD) with real-time quaking-induced conversion (RT-QuIC) positive and analyze their clinical characteristics.Methods:The medical records of patients discharged from Henan Provincial People′s Hospital from January 2018 to May 2021 who were diagnosed with clinically probable sCJD and had RT-QuIC test were retrospectively analyzed. General information (gender, age, initial symptom, main clinical manifestations), accessory examination [brain magnetic resonance imaging (MRI), electroencephalogram, cerebrospinal fluid 14-3-3 protein, prion protein gene, antibodies related to autoimmune encephalitis and paraneoplastic syndrome] were collected. By a telephone-based follow-up survey, data about morality and total duration of course were collected. The patients were divided into two groups according to electroencephalogram, 14-3-3 protein, duration of disease and MRI results, and the differences of fluorescence peak time and fluorescence peak value in RT-QuIC results between groups were compared.Results:Among 8 patients, 7 patients had subacute onset and 1 patient had chronic onset. Main clinical manifestations included progressive cognitive decline (8/8), pyramid sign (5/8), walking instability (4/8), mental and behavior disorder (4/8), myoclonus (4/8), akinetic mutism (4/8), dizziness (3/8), limb shaking (2/8), dysarthria (2/8), visual hallucination (1/8), impaired vision (1/8). All cases had abnormal electroencephalogram and typical periodic sharp slow compound waves (PSWCs) were observed in 5 cases. Brain MRI showed high signal intensity in the cerebral cortex and/or basal ganglia on diffusion-weighted imaging in 7 cases, of which 6 cases involved bilateral basal ganglia. Cerebrospinal fluid 14-3-3 protein was positive in 2 cases, and RT-QuIC was positive in all cases. The fluorescence peak time of RT-QuIC was shorter in patients with PSWCs [(7.617±2.164) h vs (10.602±2.247) h, t=2.84, P=0.010] and high total MRI score [ (7.600±1.907) h vs (9.760±2.457) h, t=2.26, P=0.032]. Conclusions:RT-QuIC detection is a reliable method for early diagnosis of sCJD. RT-QuIC results were related to PSWCs and degree of MRI involvement.

Objective:To report the clinical and genetic features of a pedigree with familial encephalopathy with neuroserpin inclusions bodies (FENIB) and to enhance the understanding of the disease.Methods:The proband was admitted to Department of Neurology, Henan Provincial People′s Hospital in June 2020 due to cognitive impairment and epilepsy. Detailed medical history inquiry, physical examinations, and neuroimaging examination of the family were conducted. The proband completed the examination of brain magnetic resonance imaging (MRI), electroencephalogram (EEG), cerebrospinal fluid examinations. Whole exome sequencing and Sanger sequencing were used to screen the genetic variations in the proband. Sanger sequencing was performed in some family members to verify the mutation. Through literature review, the characteristics of the disease were summarized.Results:The proband was a 23-year-old young female with progressive cognitive impairment, epilepsy as the main manifestations. Brain MRI indicated moderate atrophy of bilateral cerebral cortex. Genetic sequencing revealed a heterozygous missense mutation (c.1013A>G; p.H338R) of SERPINI1 gene encoding the neuroserine protease inhibitor protein. The proband′s mother and brother had similar clinical symptoms in adolescence. Both of them passed away several years later. This mutation was a proven pathogenic mutation for FENIB. The clinical phenotype was consistent within the family. Genotype and clinical phenotype were co-segregated.Conclusion:FENIB due to SERPINI1 gene mutations should be considered in young cases of cognitive decline, epilepsy and myoclonus.

Objective:To explore the clinical data and gene mutation of a family of adult-onset autosomal dominant leukodystrophy (ADLD).Methods:The clinical data and neuroimaging features of a family of ADLD (4 generation, 5 patients), admitted to our hospital in January 2020, were retrospectively analyzed. Whole exome sequencing was performed in DNA from peripheral blood of the proband and some family members. Fluorescent quantitative PCR was used to verify the pathogenic genes of the proband and family members.Results:The clinical manifestations included abnormal autonomic dysfunction (transient hypoglycemia and dilated pupil), chronic spastic paraplegia, and movement disorder in the proband and other patients in the family; their neuroimaging features included extensive involvement of the white matter, cerebellar peduncles, corpus callosum, and spinal cord. A duplication of 1-11 coding exons in the LMNB1 gene was identified in the proband. Fluorescent quantitative PCR verified that duplication of 1, 5 and 11 coding exons in the LMNB1 gene was identified in the proband and 2 sisters. Conclusion:The duplication of 1-11 coding exons in the LMNB1 gene can cause ADLD, and the clinical manifestations, neuroimaging and genetic characteristics should be comprehensively analyzed in the diagnosis of ADLD .

Objective:To explore the expression and clinical significance of miR-143 in papillary thyroid cancer (PTC) .Methods:Tumor samples and adjacent tissues from 52 patients with PTC were obtained from Jan. 1st, 2018 to Mar. 31st, 2018 in Thyroid Surgery Department of the Affiliated Yantai Yuhuangding Hospital of Qingdao University. Quantitative reverse-transcriptase PCR (RT-qPCR) was used to measure the expression of miR-143 in those subjects. In addition, the relationship between the expression levels of miR-143 and the clinicopathological characteristics was analyzed.Results:RT-qPCR indicated that the expression of miR-143 was down-regulated in PTC, which was significantly lower than that in adjacent tissues ( t=-21.39, 95% CI: 18.20-15.07, P<0.001) . Low expression of miR-143 was related to the number of lymph node metastasis ≥3 in central compartment ( t=10.13, P=0.012) and lateral neck lymph node metastasis ( t=-4.67, P<0.001) . Conclusion:Downregulation of miR-143 in PTC is linked to the metastasis of PTC and may be a potential target for therapeutic intervention.

Objective:To explore the clinical significance of recurrent laryngeal nerve inlet zone(RLNIZ) lymph node metastasis in papillary thyroid cancer(PTC).Methods:The clinical data of the clinicopathologic characteristics of 738 cases with papillary thyroid cancer at our centers from Jul 2017 to Jun 2018 was retrospectively reviewed. 108 cases with RLNIZ lymph node dissection for pathological examination were included. The relationship between metastasis of RLNIZ lymph node and clinicopathologic characteristics was analyzed.Results:RLNIZ lymph node was detected in 12.3%(91/738)cases, the mean lymph node number in RLNIZ was 1.5±0.7, and 30.8%(28/91) cases suffered RLNIZ lymph node metastasis. RLNIZ lymph node metastasis(LNM) is associated with tumor size( P=0.028), capsular invasion( P=0.019), No. of central compartment LNM( P<0.001) and lateral neck LNM( P<0.001). No. of central compartment LNM was found to be the independent risk factor of RLNIZ lymph node metastasis. The incidence of dysphagia and inferior parathyroid damage was 0.9%(1/108)respectively. Conclusions:RLNIZ lymph node metastasis is common among PTC patients , therefore, RLNIZ lymph node should be routinely removed especially in patients with tumor size over 1cm、suspected capsular invasion and lateral neck lymph node metastasis confirmed by preoperative imaging examination.

Objective To explore the clinical, electrophysiological and molecular genetics features of Kennedy disease (KD) which might contribute to early diagnosis and avoid misdiagnosis of KD. Methods The clinical and electrophysiological data of 13 patients with KD, admitted to our hospital from December 2013 to March 2018, were retrospectively analyzed. The (CAG) repeats in the exon 1 of androgen receptor (AR) gene were conducted by capillary electrophoresis. Results All patients appeared chronic course. Progressive weakness of limbs and muscular atrophy, including lingual muscle and bulbar muscle, were the specific clinical characteristics. Ten patients presented with barymastia and 11 patients with hormonal imbalance. Electromyography (EMG) showed decline of sensory nerve action potential amplitude in most patients. A widespread neuronal damage, such as increased duration of motor unit action potential, fibrillation potential, fascicular potential and positive sharp wave, could be detected. AR gene mutations were detected in all 13 patients. The number of (CAG) repeats expansion in exon 1 of AR gene ranged from 40 to 54. Conclusions The impairment of lower motor neuron, bulbar palsy and hormonal imbalance are the main clinical features in patients with KD. EMG shows chronic widespread neuronal damage. AR gene mutation detection plays a vital role in the final diagnosis of KD.

Objective To analyze the clinical and electrophysiological features in a family with spinal muscular atrophy (SMA), and assess the probable causative gene mutations for the family. Methods To identify the nosogenesis of the proband with weakness and atrophy in the double lower proximal limbs, clinical data of his 12 family members were collected, and the proband and his mother were selected for clinical examinations, including laboratory tests, electromyogram (EMG), F-wave, H-reflex, X-ray of the spine and double lower limbs, brain and spinal cord magnetic resonance imaging, etc. Moreover, human whole exome sequencing was performed on blood sample from the proband, then its deleterious effects were assessed according to the Standards and guidelines for the interpretation of sequence variants, a joint consensus recommendation of the American College of Medical Genomics (ACMG) and the Association for Molecular Pathology (AMP). Subsequently, the strong pathogenic mutation was validated by Sanger sequencing. Results Familial investigation showed seven of 12 family members presented with weakness in the double lower proximal limbs. Among them, three had the main manifestation of atrophy in the double lower proximal limbs, one had high arched foot as the main presentation, and the others had weakness in the double lower proximal limbs. EMG studies showed the abnormal results in the anterior horn of the spinal cord. The strong pathogenic mutation in DYNC1H1 gene (exon8, c.2327C＞T, p.P776L) was identified from the proband according to ACMG and AMP guidelines. Sanger sequencing revealed six patients had this variant and it was passed mainly from his maternal grandmother. Conclusions A pathogenic mutation of the DYNC1H1 p.P776L in six Chinese pedigrees which cosegregated with SMA was identified. There existed individual differences in clinical presentations. This finding may have important implications for the study of SMA in Chinese patients.

The performance of CRA directly affects the quality of clinical trials. In the appraisal of the CRA performance, satisfaction of clinical institutions plays a vital role. This article presents the outcome of a satisfaction survey on 16 clinical research centers in Shandong province, and the analysis of 503 survey samples regarding their exploratory factor and confirmatory factor respectively. The purpose is to identify the main factors for the satisfaction and to build a model to evaluate the satisfaction of hospitals for CRA.