Objective To explore the value of quantitative parameters of spectral CT imaging in the diagnosis of non-small cell lung cancer (NSCLC) with different pathological types. Methods One hundred and thirty-six patients with NSCLC proved by pathology underwent chest plain and enhanced CT scan with gemstone spectral imaging (GSI) mode by Discovery CT750 HD, including 57 cases of squamous cell carcinoma (SQCC) and 79 cases of adenocarcinoma (ADC). All the cases were divided into two groups of tumor diameter>2 cm (120 cases, including 50 cases of SQCC and 70 cases of ADC) and diameter≤2 cm (16 cases, including 7 cases of SQCC and 9 cases of ADC). The slope between 40 and 65 keV(K40-65 keV) of spectral attenuation curve, effective atomic number (Eff-Z) and calcium concentration in plain scan (PS) and K40-65 keV of spectral attenuation curve, iodine concentration and water concentration in arterial phase (AP) of SQCC and ADC in the two groups were measured and compared respectively. Furthermore, all cases were classified according to the trend of spectral attenuation curve in PS. These quantitative parameters satisfying normal distribution were compared by two independent samples t test, while those parameters not satisfying normal distribution were compared by rank sum test. ROC curves was drawn for these parameters with statistical difference and area under the curve (AUC) was used to measure the differential diagnostic performance of each parameter. Chi square test was used to compare the differences of the trend of spectral attenuation curve in PS between SQCC and ADC. Results In the group of diameter>2 cm: (1) Comparison of quantitative parameters of spectral CT in PS:K40-65 keV, Eff-Z and calcium concentration of ADC were 0.69 ± 0.56, 7.76±0.19, and (4.11±2.93) mg/cm3, respectively. The corresponding parameters of SQCC were 0.19± 0.23, 7.59 ± 0.14, and (1.25 ± 1.59) mg/cm3, respectively. These parameters of ADC were significantly higher than SQCC (Z=-7.000,-6.249, t=-6.884, P<0.01). (2) Comparison of quantitative parameters of spectral CT in AP:K40-65 keV, iodine concentration and water concentration of ADC were 2.61 ± 1.72, (1.24 ± 0.77) mg/cm3, and (1024.46 ± 14.06) mg/cm3, respectively. The corresponding parameters of SQCC were 2.00 ± 1.79, (0.94±0.86) mg/cm3, and (1027.77±9.47) mg/cm3, respectively. The difference between ADC and SQCC was statistically significant (Z=-3.082,-2.946,-3.045, P<0.01). (3) ROC curve analysis showed that these quantitative parameters in PS were helpful in differentiating SQCC and ADC, especially K40-65 keV of spectral attenuation curve in PS. The AUC for it was 0.876. The sensitivity and specificity were 91.4%and 80.0%, respectively. (4)According to the trend of spectrum attenuation curve in PS, type Ⅰ was more common in SQCC, while typeⅡwas more common in ADC (χ2=54.208, P<0.01). In the group of diameter≤2 cm:There was no significant difference in all quantitative parameters between ADC and SQCC (P>0.05). The trend of spectrum attenuation curve in PS of all cases showed type Ⅱ. Conclusions Lung ADC and SQCC have different quantitative parameters in spectral CT imaging. These quantitative parameters are valuable in classifying the pathological type of NSCLC with diameter more than 2 cm.

OBJECTIVETo identify pathogenic mutation of the TSC1 and TSC2 genes in a patient with tuberous sclerosis.

METHODSPeripheral venous blood samples and clinical data of a pregnant woman with tuberous sclerosis and 4 family members (parents, uncle and husband) were collected. Genomic DNA was extracted. All coding exons of the TSC1 and TSC2 genes and their flanking intronic sequences were amplified by polymerase chain reaction and subjected to direct sequencing.

RESULTSThe patient has presented facial angiofibroma and prefrons fibrous plaque for 20 years, and lumbar connective tissue nevus for 10 years. She also had mental retardation but no epilepsy. A novel frame-shift mutation c.4258-4261delTCAG was detected in exon 34 of the TSC2 gene, which had led to a premature stop codon TAG after the 55th amino acids. The same mutation was not found in the unaffected family members and 100 unrelated healthy controls.

CONCLUSIONThe novel frame-shifting mutation c.4258-4261delTCAG (p.Ser1420GlyfsX55) in the TSC2 gene may be responsible for the disease in the patient.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; DNA Mutational Analysis ; Female ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Pedigree ; Pregnancy ; Tuberous Sclerosis ; genetics ; Tumor Suppressor Proteins ; genetics ; Young Adult

Objective:To investigate the features of chest computed tomography (CT) imaging and dynamic changes of severe corona virus disease 2019 (COVID-19).Methods:The clinical and CT data of 17 patients diagnosed with severe COVID-19 admitted to Chongqing Public Health Medical Center from January 24 to February 6, 2020 were collected. The first chest CT manifestations and the dynamic changes of imaging during treatment were retrospectively analyzed.Results:The first chest CT manifestations of the 17 patients showed that 16 cases presented with peripheral and subpleural distributions, and two cases presented with three lobes involved, one case with four lobes involved and 14 cases with five lobes involved, and 17 cases presented with ground-glass opacities, ten cases with consolidation, seven cases with subpleural line, nine cases with air bronchogram, three cases with thickened lobular septum, two cases with bronchiectasis, two cases with pleural effusion, three cases with lymphadenopathy with the short diameter of 1.0-1.2 cm.Among 16 patients who underwent repeated CT examination, the lesions of eight patients showed continuous improvement, and those of the other eight patients showed fluctuating changes.Conclusions:The CT findings of severe COVID-19 patients are mainly ground-glass opacities and consolidation, with the peripheral distribution. The range of lesions is wide, with five-lobe involvement mostly. Lymphadenopathy or pleural effusion is rare. Pynamic monitoring chest CT is useful for the evaluation for the therapeutic effects.