[Diagnostic value of Gd-EOB-DTPA-enhanced MRI radiomics models for dual-phenotype hepatocellular carcinoma].

Objective: To develop and validate clinical and radiomics models based on gadolinium ethoxybenzyl diethylenetriamine pentaacetic acid (Gd-EOB-DTPA)-enhanced MRI of dual-phenotype hepatocellular carcinoma (DPHCC) for preoperative differential diagnosis. Methods: Two hundred and fifty inpatients of hepatocellular carcinoma (HCC) confirmed by postoperative pathology, who underwent Gd-EOB-DTPA-enhanced MRI were retrospectively included. A total of 172 inpatients (72 DPHCC and 100 non-DPHCC) were included in Institution 1 (the First Affiliated Hospital of Soochow University) as a training cohort (between January 2020 and July 2023) and 78 inpatients (44 DPHCC and 34 non-DPHCC) were included in Institution 2 (the Third People's Hospital of Nantong) as an external validation cohort(between January 2019 and July 2023). The regions of interest of the tumor were delineated layer by layer in noncontrast phase, arterial phase (AP), portal venous phase (PP) and hepatobiliary phase (HBP) images. The software of FAE was used to extract the radiomics features of the images. Pearson correlation analysis and recursive feature elimination were used for feature selection. Each phase and combined radiomics models were established using logistic regression, linear discriminant analysis and support vector machine. Receiver operating characteristic curve and the areas under the curve (AUC) were used to evaluate and select the dominant radiomics model. The dominant radiomics model was combined with clinically independent predictors to construct a clinical radiomics model. Delong test was used to compare the performance of the models. Results: The age of the training cohort was (59.6±10.4) years, in which there were 135 men (78.5%). In the external validation cohort, the age was (57.8±9.2) years, including 56 men (71.8%). The maximum diameters of the lesions [M (Q1, Q3), 4.7 (2.6, 7.5) vs 2.7 (1.8, 4.4) cm, P<0.001] and the proportion of the multiple lesions (39.5% vs 16.7%, P<0.001) in the training cohort were higher than those in the external validation cohort. In the training group, the proportion of patients with hepatitis B virus (HBV) infection in the DPHCC subgroup (66.7%,48/172) was higher than that in non-DPHCC subgroup (49.0%,49/78,P=0.021). In the external validation cohort, the AUC (95%CI) of the PP [0.835 (0.733-0.937)] and combined radiomics models [0.786 (0.681-0.891)] were significantly higher than that of noncontrast phase [0.451 (0.319-0.584)], AP [0.566 (0.435-0.696)] and HBP models [0.496 (0.363-0.629)] (all P<0.05). There was no significant difference in AUC between PP radiomics model and combined radiomics model (P=0.189). The AUC between the radiomics models and clinical-radiomics models, which were brought into clinically independent variable HBV, showed no significant difference (all P>0.05). Conclusion: Gd-EOB-DTPA-enhanced MRI radiomics model based on portal venous phase may be available for discriminating DPHCC from non-DPHCC before operation.

Huntingtin gene CAG repeat numbers in Chinese patients with Huntington's disease and controls.

BACKGROUND AND PURPOSE: Huntington's disease is due to a CAG triplet repeat elongation in the huntingtin gene. Boundaries in CAG numbers have been found between healthy people with and without risk to pass the disorder to the next generation, and between people without, with a mild, or with a fully penetrant phenotype. These data have been generated in western populations and it is not clear whether they are also valid amongst Chinese. METHODS: In order to establish normative data in the huntingtin gene for Chinese people, 966 chromosomes from normal controls were tested. Further, the range of CAG repeats was examined in a cohort from six centres and a total of 368 patients with the disease were included. RESULTS: The CAG triplet repeat range in normal controls was between 9 and 35 (mean 18.9, SD 2.57). Triplets in the range between 26 and 35 were found in 2.5%. In the patient cohort, triplet repeats in the shorter allele were between 8 and 37 (mean 17.7, SD 1.6). In the longer allele, a range between 36 and 120 was found. There was a negative correlation (-0.65, r = 0.42) between age at onset and the number of triplet repeats in the larger allele. The mean age at onset was 38 years, with a range between 2 and 70 years. In 23 patients (6%) a childhood or juvenile onset was noted. CONCLUSION: These data show comparable ranges of huntingtin gene CAG triplet repeats in normal people and in patients with Huntington's disease as in western populations.

Spinocerebellar ataxia type 1 in China: molecular analysis and genotype-phenotype correlation in 5 families.

BACKGROUND: Twelve genetic types of autosomal dominant hereditary ataxia have been recently identified and the genes responsible for most of them cloned. Molecular identification of the type of ataxia is important to determine the disease prevalence and its natural history in various populations. OBJECTIVES: To perform molecular analysis of 75 Chinese families affected with spinocerebellar ataxia (SCA) and to evaluate the spectrum of mutations in these genes and the correlation between genotypes and phenotypes in Chinese patients. SETTING: Neurogenetics Unit, China-Japan Friendship Hospital, Beijing, China. METHODS: One hundred nine patients from 75 kindreds diagnosed as having autosomal dominant SCA, 16 patients with sporadic SCA or spastic paraplegia, 280 control chromosomes of the Chinese population, and 120 control chromosomes of the Sakha population were selected for this study. We conducted detailed mutational analysis by direct sequencing of polymerase chain reaction products amplified from genomic DNA. RESULTS: Spinocerebellar ataxia type 1 (SCA1) was identified in 5 families with 12 studied patients. All affected family members were heterozygous for a CAG repeat expansion in the SCA1 gene containing 51 to 64 trinucleotide repeats. Normal alleles had 26 to 35 repeats. Spinocerebellar ataxia type 1 accounted for 7% of the studied Chinese families with ataxia. In addition, we determined the frequency of a single vs double CAT interruption in 120 control chromosomes of the Siberian Sakha population, which has the highest known prevalence of SCA1, and compared this with 280 control chromosomes from the Chinese populations. The results show that 64.7% of the Siberian normal alleles contain a single CAT interruption, whereas 92% of the Chinese had more than 1 interruption. CONCLUSIONS: Spinocerebellar ataxia type 1 is responsible for 7% of affected families in the Chinese population. A correlation between the prevalence of SCA1 and the number of CAT interruptions in the trinucleotide chain suggests that a CAT-to-CAG substitution may have been the initial event contributing to the generation of expanded alleles and influencing relative prevalence of SCA1.