Objective To investigate the ultrasonic features of triple-negative breast cancer (TN-BC).Methods Ultrasonographic findings of 299 patients with pathologically confirmed breast cancer were analyzed retrospectively.Patients were divided into TNBC group (46 cases) and non-triple-negative breast cancer(NTNBC) group (253 cases) according to the expression of estrogen receptor (ER),progesterone receptor (PR),and human epidermal growth factor receptor 2 (HER2) that were determined with immunohistochemical staining.Each patient was ultrasonically analyzed.Results The ultrasonic images showed that TNBC group had a greater proportion in the mass with regular shape,clear boundary,or microlobulated relative to NTNBC group (P ＜ 0.01).Calcification was significantly less in TNBC than NTNBC (P ＜0.01).Eight (17.3％)of 46 Cases of TNBC had BI-RADS sonographic features that favored the diagnosis of a benign condition.Conclusions Some of sonographic criteria for TNBC are more likely to be associated with benign lesions,ultrasound-guided biopsy should be recommended for such lesions.

Objective To evaluate the prevalence of the DJ-1 mutation in early-onset Parkinson's disease (EOPD) patients,and analyzed the association between the certain polymorphic marker g.168_185del in intron1 and Parkinson' s disease (PD).Methods We screened all 7 exons and exon-intron boundary regions of DJ-1 by PCR and direct nucleotide sequencing in 90 Chinese patients with EOPD.We also compared the allele and genotype frequencies of the g.168_185del polymorphism between EOPD patients and controls.Results We found no causative DJ-1 mutations in our cohort of Chinese EOPD patients.But we did identified 4 known polymorphic variants,including the g.168_185del in intron 1,g.5027G ＞ A (rs17523802),g.5065T ＞ C (rs226249),and g.5094C ＞ T (rs11121064) within exon 1.Del/Ins frequencies of the g.168_185 del polymorphism were 11.1％ (10/90)and 13.3％ (14/105) in EOPD group and normal group,respectively.Ins/Ins frequencies were 88.9％ (80/90) and 86.7％ (91/105),thex2 and P value of genotype frequency were 0.222 and 0.669 between EOPD patients and controls,respectively.The insert frequencies were 94.4％ (170/180)and 93.3％ (196/210) in EOPD patients and controls,the deletion frequencies were 5.6％ (10/180) and 6.7％ (14/210),thex2 and P value of allele frequency were 0.207 and 0.679 between EOPD patients and normal,respectively.Furthermore,the P value of genotype and allele frequencies were 0.736 and 0.744 between familial EOPD patients and controls,respectively;P values of genotype and allele frequencies were 0.847 and 0.852 between sporadic EOPD patients and control group,respectively.There was no statistical difference between groups.Conclusion Mutations in DJ-1 are uncommon in Chinese EOPD patients,and no association is observed between the DJ-1 intron 1 g.168_185del polymorphism and risk of PD.

Objective To explore the value of elastography score and strain rate ratio in the diagnosis of small breast malignant focus. Methods We retrospectively analyzed 22 patients with breast small malignant foci less than 10 mm. Ultrasound characteristics were summed up in breast small cancer. Results On elastogram, 2 patients scored 3, 14 scored 4 and 6 scored 5.The average strain rate ratio of all foci was 4.76, and there was correlation between it and elastography scores. Conclusion Ultrasonic elastography has important value in the diagnosis of breast small cancer.

OBJECTIVETo analyze the clinical and genetic features of a family with Parkinson's disease caused by expansion of CAG triplet repeat in the ATXN2 gene.

METHODSThe CAG/CAA repeat in the ATXN2 gene was analyzed by polymerase chain reaction (PCR) and Sanger sequencing.

RESULTSMolecular testing has documented a pathological heterozygous expansion of the CAG repeat from 33 to 35 in 6 patients and other 8 family members. Two patients had pure CAG triplet repeat expansion in their ATXN2 gene, while others had CAA interruption.

CONCLUSIONExpanded CAG/CAA repeat in the ATXN2 gene is the causative mutation of the disease in this family.The 8 members with expanded CAG/CAA repeat may be asymptomatic patients. It is supposed that the number and configuration of the ATXN2 CAG/CAA repeat expansion may play an important role in the phenotypic variability of Parkinson's disease.

Aged ; Ataxin-2 ; genetics ; Base Sequence ; Family Health ; Female ; Genetic Predisposition to Disease ; genetics ; Humans ; Male ; Middle Aged ; Parkinson Disease ; genetics ; pathology ; Pedigree ; Polymerase Chain Reaction ; Sequence Analysis, DNA ; methods ; Trinucleotide Repeat Expansion ; genetics

Objective: Progressive supranuclear palsy (PSP) involves a variety of visual symptoms that are thought to be partially caused by structural abnormalities of the retina. However, the relationship between retinal structural changes, disease severity, and intracranial alterations remains unknown. We investigated distinct retinal thinning patterns and their relationship with clinical severity and intracranial alterations in a PSP cohort. Methods: We enrolled 19 patients with PSP (38 eyes) and 20 age-matched healthy controls (40 eyes). All of the participants underwent peripapillary and macular optical coherence tomography. Brain 11C-2β-carbomethoxy-3β-(4-fluorophenyl) tropane (11C-CFT) and 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography imaging were also performed in patients with PSP. We investigated the association between retinal thickness changes and clinical features, striatal dopamine transporter availability, and cerebral glucose metabolism. Results: The peripapillary retinal nerve fiber layer (pRNFL) and macula were significantly thinner in patients with PSP than in controls. The thickness of the superior sector of the pRNFL demonstrated a significant negative relationship with the Movement Disorder Society-Unified Parkinson’s Disease Rating Scale part III and Hoehn and Yahr staging scale scores. A significant negative correlation was found between outer inferior macular thickness and disease duration. Outer temporal macular thickness was positively correlated with Montreal Cognitive Assessment scores. In PSP, lower outer temporal macular thickness was also positively correlated with decreased dopamine transporter binding in the caudate. Conclusion The pRNFL and macular thinning may be candidate markers for monitoring disease severity. Additionally, macular thinning may be an in vivo indicator of nigrostriatal dopaminergic cell degeneration in PSP patients.

Objective To investigate the value of magnetic resonance imaging-proton density fat fraction (MRI-PDFF) and FibroScan in the quantitative evaluation of liver fat content in patients with chronic hepatitis B (CHB). Methods A total of 96 patients with CHB who were hospitalized in Department of Hepatology, The Second Clinical Medical College of Guangzhou University of Chinese Medicine, from February 2017 to July 2020 were enrolled, and all patients were diagnosed based on liver pathological examination. MRI-PDFF and FibroScan were performed before surgery. According to the results of liver biopsy, the patients were divided into non-fatty liver disease group with 44 patients, mild fatty liver disease group with 33 patients, and moderate-to-severe fatty liver disease group with 19 patients. A one-way analysis of variance was used for comparison of normally distributed continuous data between multiple groups, and the least significant difference t -test was used for further comparison between two groups; the Kruskal-Wallis H test was used for comparison of non-normally distributed continuous data between multiple groups, and the Mann-Whitney U test was used for further comparison between two groups; Bonferroni correction was also performed. The receiver operating characteristic (ROC) curve was plotted to analyze the area under the ROC curve (AUC) of hepatic fat fraction (HFF) and controllable attenuation parameters (CAP) in the diagnosis of fatty liver disease and obtain their sensitivities, specificities, and optimal cut-off values. The intraclass correlation coefficient was used to investigate the consistency of MRI-PDFF data. Results The moderate-to-severe fatty liver disease group had a significant increase in MRI-PDFF HFF compared with the non-fatty liver disease group and the mild fatty liver disease group (all P < 0.05), and the mild fatty liver disease group had a significant increase in MRI-PDFF HFF compared with the non-fatty liver disease group( P < 0.05). The moderate-to-severe fatty liver disease group had a significant increase in FibroScan CAP compared with the non-fatty liver disease group and the mild fatty liver disease group (all P < 0.05), and the mild fatty liver disease group had a significant increase in FibroScan CAP compared with the non-fatty liver disease group ( P < 0.05). In the diagnosis of mild fatty liver disease, MRI-PDFF HFF had an AUC of 0.901 ( P < 0.001), a sensitivity of 90.9%, and a specificity of 82.7% at the optimal cut-off value of 5.1%, and in the diagnosis of moderate-to-severe fatty liver disease, MRI-PDFF HFF had an AUC of 0.972 ( P < 0.001), a sensitivity of 96.1%, and a specificity of 89.5% at the optimal cut-off value of 9.7%. In the diagnosis of mild fatty liver disease, FibroScan CAP had an AUC of 0.829 ( P < 0.001), a sensitivity of 77.3%, and a specificity of 78.8% at the optimal cut-off value of 258.5 dB/m, and in the diagnosis of moderate-to-severe fatty liver disease, FibroScan CAP had an AUC of 0.830 ( P < 0.001), a sensitivity of 76.6%, and a specificity of 78.9% at the optimal cut-off value of 285.5 dB/m. Conclusion Both MRI-PDFF and FibroScan can objectively evaluate the degree of fatty liver disease in patients with CHB. MRI-PDFF HFF and FibroScan CAP can be used as noninvasive markers for the quantitative analysis of CHB with hepatic steatosis, and MRI-PDFF HFF tends to have higher diagnostic efficiency.