Gallbladder cancer is a highly aggressive malignancy of the biliary system, often diagnosed at the advanced stage due to its insidious early symptoms, leading to poor overall progno-sis. In recent years, the rapid advancement of artificial intelligence (AI) technologies and their inte-gration into medicine have opened new avenues for the early diagnosis and precision treatment of gallbladder cancer. Currently, AI incorporating deep learning algorithm has significantly improved diagnostic sensitivity and specificity in ultrasound, computed tomography, and pathological analysis. However, clinical translation of AI models remains limited by challenges such as insufficient annota-ted data and limited model interpretability. Future research should focus on establishing multi-center data-sharing mechanisms, developing interpretability tools, and optimizing multimodal data integration strategies, thereby promoting the transformation of AI technologies from an auxiliary diagnostic tool to a core component of clinical decision-making.

Gallbladder cancer is a highly aggressive malignancy of the biliary system, often diagnosed at the advanced stage due to its insidious early symptoms, leading to poor overall progno-sis. In recent years, the rapid advancement of artificial intelligence (AI) technologies and their inte-gration into medicine have opened new avenues for the early diagnosis and precision treatment of gallbladder cancer. Currently, AI incorporating deep learning algorithm has significantly improved diagnostic sensitivity and specificity in ultrasound, computed tomography, and pathological analysis. However, clinical translation of AI models remains limited by challenges such as insufficient annota-ted data and limited model interpretability. Future research should focus on establishing multi-center data-sharing mechanisms, developing interpretability tools, and optimizing multimodal data integration strategies, thereby promoting the transformation of AI technologies from an auxiliary diagnostic tool to a core component of clinical decision-making.

Objective:To explore the predictive value of methyltetrahydrofolate reductase (MTHFR) gene polymorphism in collaboration with serum ANG2 expression on the efficacy of estrogen receptor (ER) positive breast cancer chemotherapy.Methods:Sixty-six patients with ER-positive breast cancer who underwent chemotherapy were selected from Changshu First People’s Hospital from Mar. 2017 to Mar. 2022. According to the efficacy of chemotherapy, patients were divided into effective group and ineffective group. Clinical data of two groups of patients were collected, and PCR was used to detect MTHFR gene polymorphisms in leukocyte DNA and ANG2 expression in serum of patients before chemotherapy. The general data, MTHFR gene polymorphism and ANG2 level of the two groups were compared, and the factors influencing the efficacy of chemotherapy for ER-positive breast cancer were analyzed by Logistic regression. The predictive value of MTHFR gene polymorphism and ANG2 level in ER-positive breast cancer chemotherapy was analyzed according to receiver operating characteristic (ROC) curve.Results:There were 11 complete responses (CR), 38 partial responses (PR), 10 stable disease (SD), and 7 progressive disease (PD) after chemotherapy in 66 ER-positive breast cancer patients. The proportion of lymphatic metastases, the proportion of CC in C677T MTHFR gene and the level of ANG2 in serum in the ineffective group were higher than those in the effective group ( P<0.05). Logistic analysis showed that lymph metastases, C677T MTHFR gene and ANG2 level were independent risk factors for chemotherapy efficacy of ER-positive breast cancer by Logistic regression analysis ( P<0.05). ROC analysis showed that the area under the curve (AUC) values of C677T MTHFR gene and ANG2 in predicting the efficacy of chemotherapy for ER-positive breast cancer were 0.779 and 0.726, respectively, and 95% CI were 0.660-0.872 and 0.596-0.824. The combined predicted AUC value was 0.920, and 95% CI was 0.826-0.972. Conclusions:MTHFR gene polymorphism and ANG2 level are of reference value for chemotherapy efficacy of ER positive breast cancer. C677T type MTHFR gene has higher value in predicting the efficacy of ER-positive breast cancer chemotherapy in collaboration with serum ANG2 level.

Objective::Microchannels are associated with the progression of atherosclerotic vulnerable plaques. However, in patients with culprit optical coherence tomography (OCT)-defined plaque erosion, the knowledge of microchannels and culprit lesion vulnerability is limited. The aim of this study was to investigate culprit lesion characteristics in patients with ST-segment elevated myocardial infarction (STEMI) caused by plaque erosion with and without microchannels using OCT.Methods::In all, 348 STEMI patients with plaque erosion who underwent OCT of the culprit lesion at the 2 nd Affiliated Hospital of Harbin Medical University (Harbin, China) from August 2014 to December 2017 were included and divided into the microchannel group ( n= 116, 33.3%) and no-microchannel group ( n = 232, 66.7%). The clinical characteristics and OCT-derived plaque features were compared between both groups. Results::Among the 348 STEMI patients with plaque erosion, culprit lesions with microchannels had higher incidence of lipid plaque (59.5% vs. 45.3%, P= 0.012); calcification (41.4% vs. 24.6%, P= 0.002); spotty calcification (30.2% vs. 18.1%, P= 0.014); macrophages accumulation (72.4% vs. 45.7%, P < 0.001); and cholesterol crystals (32.8% vs. 14.2%, P < 0.001) than those without microchannels. In addition, minimal lumen area was smaller ((1.9 ± 0.9) mm 2vs. (2.8 ± 2.3) mm 2, P < 0.001) and lumen area stenosis was greater ((71.3% ± 13.4%) vs. (65.3% ± 19.3%), P= 0.001) in the microchannel group than in the no-microchannel group. Conclusion::In patients with STEMI caused by plaque erosion, one-third manifested typical microchannel characteristics, and those with microchannels were associated with more severe luminal stenosis and more vulnerable plaque features than those without microchannels.

Objective::Microchannels are associated with the progression of atherosclerotic vulnerable plaques. However, in patients with culprit optical coherence tomography (OCT)-defined plaque erosion, the knowledge of microchannels and culprit lesion vulnerability is limited. The aim of this study was to investigate culprit lesion characteristics in patients with ST-segment elevated myocardial infarction (STEMI) caused by plaque erosion with and without microchannels using OCT.Methods::In all, 348 STEMI patients with plaque erosion who underwent OCT of the culprit lesion at the 2 nd Affiliated Hospital of Harbin Medical University (Harbin, China) from August 2014 to December 2017 were included and divided into the microchannel group ( n= 116, 33.3%) and no-microchannel group ( n = 232, 66.7%). The clinical characteristics and OCT-derived plaque features were compared between both groups. Results::Among the 348 STEMI patients with plaque erosion, culprit lesions with microchannels had higher incidence of lipid plaque (59.5% vs. 45.3%, P= 0.012); calcification (41.4% vs. 24.6%, P= 0.002); spotty calcification (30.2% vs. 18.1%, P= 0.014); macrophages accumulation (72.4% vs. 45.7%, P < 0.001); and cholesterol crystals (32.8% vs. 14.2%, P < 0.001) than those without microchannels. In addition, minimal lumen area was smaller ((1.9 ± 0.9) mm 2vs. (2.8 ± 2.3) mm 2, P < 0.001) and lumen area stenosis was greater ((71.3% ± 13.4%) vs. (65.3% ± 19.3%), P= 0.001) in the microchannel group than in the no-microchannel group. Conclusion::In patients with STEMI caused by plaque erosion, one-third manifested typical microchannel characteristics, and those with microchannels were associated with more severe luminal stenosis and more vulnerable plaque features than those without microchannels.

OBJECTIVETo achieve early diagnosis for inheritable hearing loss and determine carrier rate of deafness causing gene mutations in order to provide information for premarital, prenatal and postnatal genetic counseling.

METHODSA total of 17 000 dried heel blood spots of normal newborns in Chengdu were collected with informed consent obtained from their parents. Genomic DNA was extracted from dried blood spots using Qiagen DNA extraction kits. Microarrays with 9 common mutation loci of 4 deafness-associated genes in Chinese population were used. Nine hot mutations including GJB2 (35delG, 176del16, 235delC and 299delAT), GJB3 (538C> T), SLC26A4 (IVS 7-2A> G, 2168A> G), and mitochondrial DNA 12S rRNA (1555A> G, 1494C> T) were detected by PCR amplification and microarray hybridization. Mutations detected by microarray were verified by Sanger DNA sequencing.

RESULTSOf the 17 000 new-borns, 542 neonates had mutations of the 4 genes. Heterozygous mutations of GJB2, at 235delC, 299delAT, and 176del16 were identified in 254, 55, and 15 newborns, respectively. Two newborns had homozygous mutation of GJB2, 235delC. Heterozygous mutations at 538C> T of GJB3, 2168A> G and IVS 7-2A> G of SLC26A4 were found in 23, 17 and 128 newborns, respectively. For mutation analysis of mitochondrial DNA 12S rRNA, 1494C> T and 1555A> G were homogeneous mutations in 4 and 42 neonates, respectively. In addition, 6 complexity mutations were detected, which demonstrated that one newborn had heterozygous mutations at GJB2 235delC and SLC26A4, IVS7-2A> G, one had heterozygous mutation GJB2 235delC and 12S rRNA homogeneous mutation, 1555 A> G, one heterozygous mutations at GJB2, 299delAT, and GJB3, 538C> T, one at GJB2, 299delAT and 12S rRNA, 1555 A> G, two at GJB2, 299delAT, and SLC26A4, IVS7-2A> G. All mutations as above were confirmed by DNA sequencing.

CONCLUSIONThe total mutation carrier rate of the 4 deafness genes is 3.19% in healthy newborns at Chengdu. Mutations of GJB2 and SLAC26A4 are major ones (86.5% of total). The mutation rate of mitochondrial DNA 12S rRNA is 2.71‰, which may have deafness induced by aminoglycoside antibiotics. Newborn screening for mutation of genes related to hereditary deafness plays an important role in the early detection and proper management for neonatal deafness as well as genetic counseling for premarital, prenatal and postnatal diagnosis.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; DNA, Mitochondrial ; chemistry ; genetics ; Deafness ; diagnosis ; ethnology ; genetics ; Dried Blood Spot Testing ; Genetic Predisposition to Disease ; ethnology ; genetics ; Genetic Testing ; methods ; Humans ; Infant, Newborn ; Membrane Transport Proteins ; genetics ; Microarray Analysis ; methods ; Mutation ; Neonatal Screening ; methods ; RNA, Ribosomal ; genetics

Brain metastasis is a common and devastating consequence of disease progression in patients with lung cancer.Epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKI) may enhance radiosensitivity by reducing the cells in S phase,reducing angiogenesis of tumor cells,increasing irradiation apoptosis,inhibiting tumor cells proliferation by fractionated irradiation and reducing radiotherapy resistance.The clinical results of radiotherapy combined with EGFR-TKI (such as gefitinib) in treatment of brain metastasis from lung cancer showed higher response rate and longer survival.The toxicities during EGFR-TKI treatments were low,and could be controllable after symptomatic treatment.Administration of EGFR-TKI combined radiotherapy conferred minimum influence on radiotherapy.

Objective To investigate the clinical, histopathological and immunopathological charac teristics of erythema annulare centrifugum (EAC). Methods A retrospective study was performed on 54 cases of EAC collected from 2001 to 2005. Information was gathered about patients' sex, age, disease course, distribution and morphology of eruptions, symptoms, complications. Also, the findings of histopathology and direct immunofluorescence examination in some patients were evaluated. Remits EAC most commonly occurred on the lower limb, and was usually complicated by various diseases among which mycosis predominated. Histological examination revealed compact lymphocyte infiltration in dermal vessels in 32 of these 54 patients. Direct immunofluorescence showed the deposition of IgG, lgM, or C3 on the walls of small vessels in 6 of 12 tissue samples tested. Conclusions EAC is a multifactorial disease, and it seems that the infiltration of lymphocytes and deposition of circulatory immune complex on small blood vessels in dermis may play important roles in its pathogenesis.

AIM: To examine the expression and distribution of tumor necrosis factor-? (TNF-?), tumor necrosis factor receptor I (TNFR I) and apoptosis in oral lichen planus, and evaluate their roles and relation in the oral lichen. METHODS: Immunohistochemical technique and TUNEL were employed to study the expression of TNF-?, TNFR I and apoptosis in 50 cases of oral lichen planus and 10 normal oral mucosa specimens. RESULTS: Compared with the normal control group, TNF-? expression was upregulated in mononuclear cells in lamina propria and decreased in keratinocytes in oral lichen planus lesion ( P