OBJECTIVE: To identify the gene mutation types of 4 suspected β-thalassemia patients in Yunnan Province, and to analyze the genotypes and hematological phenotypes. METHODS: Whole genome sequencing was performed on the samples of 4 suspected β-thalassemia patients from the Dai ethnic group in a thalassemia endemic area of Yunnan Province, whose hematological phenotypes were not consistent with the results of common thalassemia gene mutations. The mutations of β-globin gene clusters were confirmed by polymerase chain reaction (PCR) and Sanger DNA sequencing technology. RESULTS: The 3.5 kb deletion in β-globin gene cluster (NC_000011.10: g. 5224302-5227791del3490bp) was detected in 4 patients' samples, of which 1 case was also detected with HbE mutation and 1 case with CD17 mutation. These 2 patients displayed moderate anemia phenotype, while the two patients with only the 3.5 kb deletion presented with other mild anemia phenotype. CONCLUSION Heterozygous carriers with rare 3.5 kb deletion of the β-globin gene cluster may develop mild anemia, compound mutations of the 3.5 kb deletion with other mutations may led to intermediate thalasemia with moderate to sever anemia. In areas with a high incidence of thalassemia, suspected patients should undergo genetic testing to avoid missing or misdiagnosing rare mutations.
Humans ; beta-Globins/genetics* ; Multigene Family ; beta-Thalassemia/genetics* ; Mutation ; Genotype ; Sequence Deletion ; Phenotype ; Male ; Female

Objective To assess the viability and efficacy of employing automated segmentation for whole breast radiotherapy with simultaneous integrated boost to the medial tumor beds,a comparative analysis was conducted on the disparities in geometry,dosimetry,and working time between the auto-segmentation(AS)and manual segmentation(MS)groups.Methods A total of 30 patients with early breast cancer,who had undergone conserving surgery and received hypofractionated radiotherapy with a boost to the medial tumor bed,were enrolled from the First People's Hospital of Zunyi.AccuContour software was used in the AS group to obtain the whole breast planning target volume and cardiopulmonary structure.Geometric differences between AS and MS groups were assessed using Dice similarity coefficient(DSC)and 95%Hausdorff distance(95HD).Subsequently,a comparison was made between the two groups regarding target and cardiopulmonary dosimetry for PlanA and PlanM.Additionally,the time spent by each group was also compared.Results The DSC of PGTV,PTV,lung,and heart were 0.94(0.91,0.96),0.88(0.86,0.91),0.98(0.97,0.98)and 0.94(0.93,0.95),respectively.And the 95 HD(cm)were 0.25(0.20,0.33),0.99(0.56,1.20),0.29(0.25,0.35)and 0.50(0.50,0.59)respectively.The dosimetric results showed that the V95,D95,and Dmean of PGTV and PTV in the AS group were significantly lower than those in the MS group(P<0.05);while the V20 and MLD of the left lung were significantly higher(P<0.05).No significant difference was observed in cardiac dose between the two groups.The mean absolute differences of PGTV and cardiopulmonary dose parameters between the two groups were less than 1 Gy/1%,respec-tively.In terms of work efficiency,the AS approach substantially reduced contouring and planning time with over 70%of cases approved within two days.Conclusions The differences in geometric and dosimetric parameters between the auto-segmentation and manual segmentation groups were found to be negligible for whole breast radiotherapy with medial tumor bed boost patients.It is recommended that the PTV be manually modified prior to plan optimiza-tion,leading to a significant improvement in work efficiency.

Objective:To synthesize non-contrast-enhanced CT images from enhanced CT images using deep learning method based on convolutional neural network, and to evaluate the similarity between synthesized non-contrast-enhanced CT images by deep learning(DL-SNCT) and plain CT images considered as gold standard subjectively and objectively, as well as to explore their potential clinical value.Methods:Thirty-four patients who underwent conventional plain scan and enhanced CT scan at the same time were enrolled. Using deep learning model, DL-SNCT images were generated from the enhanced CT images for each patient. With plain CT images as gold standard, the image quality of DL-SNCT images was evaluated subjectively. The evaluation indices included anatomical structure clarity, artifacts, noise level, image structure integrity and image deformation using a 4-point system). Paired t-test was used to compare the difference in CT values of different anatomical parts with different hemodynamics (aorta, kidney, liver parenchyma, gluteus maximus) and different liver diseases with distinct enhancement patterns (liver cancer, liver hemangioma, liver metastasis and liver cyst) between DL-SNCT images and plain CT images. Results:In subjective evaluation, the average scores of DL-SNCT images in artifact, noise, image structure integrity and image distortion were all 4 points, which were consistent with those of plain CT images ( P>0.05). However, the average score of anatomical clarity was slightly lower than that of plain CT images (3.59±0.70 vs. 4) with significant difference ( Z = -2.89, P<0.05). For different anatomical parts, the CT values of aorta and kidney in DL-SNCT images were significantly higher than those in plain CT images ( t=-12.89, -9.58, P<0.05). There was no statistical difference in the CT values of liver parenchyma and gluteus maximus between DL-SNCT images and plain CT images ( P>0.05). For liver lesions with different enhancement patterns, the CT values of liver cancer, liver hemangioma and liver metastasis in DL-SNCT images were significantly higher than those in plain CT images( t=-10.84, -3.42, -3.98, P<0.05). There was no statistical difference in the CT values of liver cysts between DL-SNCT iamges and plain CT images ( P>0.05). Conclusions:The DL-SNCT image quality as well as the CT values of some anatomical structures with simple enhancement patterns is comparable to those of plain CT images considered as gold-standard. For those anatomical structures with variable enhancement and those liver lesions with complex enhancement patterns, there is still vast space for DL-SNCT images to be improved before it can be readily used in clinical practice.

ObjectiveTo perform the analysis of influenza surveillance in Dehong from 2016 to 2020 and determine the epidemic situation of influenza and prevalent virus strains， so as to provide evidence for local influenza prevention and control. MethodsThe influenza surveillance data in Dehong Prefecture was collected from January 2016 to December 2020. Statistical analysis was conducted by descriptive epidemiological methods. ResultsA total of 4 146 samples from influenza-like illness cases were examined. The 502 specimens tested positive for influenza virus， including 311 cases with influenza A virus and 136 cases with influenza B virus， resulting in a positive rate of 12.11%. The positive rate was the highest in 2017， followed by 2019， and the lowest in 2020 （P < 0.05）. It peaked in winter and fall. Furthermore， it was the lowest among children aged 0‒4 years and the highest among adults aged 25‒59 （P < 0.001）. In addition， positive rate did not differ significantly by gender（P>0.05） ConclusionThe positive rate of influenza has decreased in Dehong since January 2020. The influenza epidemic is seasonal， mainly in fall and winter， except 2020. Influenza A virus is predominant， compared to alternating influenza B virus.

Objective:To investigate the clinical value of magnetic resonance imaging (MRI) plain scan and diffusion weighted imaging (DWI) in the diagnosis of brain metastases.Methods:The MRI plain imaging findings of 105 cases with brain metastases and 103 cases without brain metastases confirmed by enhanced MRI examination and clinical diagnosis were retrospectively analyzed. The comparisons of plain MRI findings including T1 weighted image (T1WI), T2WI, T2/fluid attenuated inversion recovery (T2/FLAIR), DWI and apparent diffusion coefficient (ADC) values were made between brain metastases and non-brain metastases.Results:The numbers of hypo-intensity, iso-intensity, hyper-intensity and heterogeneous signal intensity of T1WI in the brain metastatic group were 54, 23, 9 and 19, respectively, while the numbers of hypo-intensity and iso-intensity in the non-brain metastatic group were 52 and 51, respectively, with statistically significant difference ( P<0.001). The numbers of hypo-intensity, iso-intensity, hyper-intensity and heterogeneous signal intensity of T2WI in the brain metastatic group were 1, 9, 72 and 23, respectively, while the numbers of iso-intensity and hyper-intensity in the non-brain metastatic group were 11 and 92, respectively, with statistically significant difference ( P<0.001). The numbers of hypo-intensity, hyper-intensity and heterogeneous signal intensity of DWI in the brain metastatic group were 4, 31 and 65, respectively, while the number of hyper-intensity in the non-brain metastatic group was 4 and others were iso-intensity, respectively, with statistically significant difference ( P<0.001). The numbers of hypo-intensity, iso-intensity, hyper-intensity and heterogeneous signal intensity of T2WI/FLAIR in the brain metastatic group were 4, 5, 60 and 36, respectively, while all cases in the non-brain metastatic group were hyper-intensity, with statistically significant difference ( P<0.001). The number of lesion accompanied with peripheral edema in the brain metastatic group were 69 cases, significantly higher than 0 cases in the non-brain metastatic group ( P<0.001). The mean ADC value in the brain metastatic group were (0.919±0.019)×10 -3 mm 2/s, significantly lower than (1.098±0.012)×10 -3 mm 2/s of non-brain metastatic group ( P<0.05). Conclusions:For patients with a history of primary malignancy, the MRI plain scan signals of T1WI, T2WI, T2WI/FLAIR and DWI are significantly different between brain metastatic tumor and non-metastatic tumor. The mixed signal, peripheral edema and the restriction of DWI diffusion indicate brain metastases. The combined application of the above parameters can improve the diagnostic efficacy of predicting brain metastases, and contrast enhancement MRI examination should be performed for the confirmation of diagnosis.

A 35-year-old male patient was admitted in October, 2018 to Burn and Plastic Surgery Department, Sanya Central Hospital (Hainan Third People’s Hospital) with diagnosis of complex pressure ulcer, hip arthritis, urethral fistula. The patient was treated with systemic support, debridement, negative pressure drainage, bilateral gluteus maximus myocutaneous flap and scrotal flap. After the two-week treatment with this method, the wounds were healed completely.

A 35-year-old male patient was admitted in October, 2018 to Burn and Plastic Surgery Department, Sanya Central Hospital (Hainan Third People’s Hospital) with diagnosis of complex pressure ulcer, hip arthritis, urethral fistula. The patient was treated with systemic support, debridement, negative pressure drainage, bilateral gluteus maximus myocutaneous flap and scrotal flap. After the two-week treatment with this method, the wounds were healed completely.

Objective:To investigate the clinical value of magnetic resonance imaging (MRI) plain scan and diffusion weighted imaging (DWI) in the diagnosis of brain metastases.Methods:The MRI plain imaging findings of 105 cases with brain metastases and 103 cases without brain metastases confirmed by enhanced MRI examination and clinical diagnosis were retrospectively analyzed. The comparisons of plain MRI findings including T1 weighted image (T1WI), T2WI, T2/fluid attenuated inversion recovery (T2/FLAIR), DWI and apparent diffusion coefficient (ADC) values were made between brain metastases and non-brain metastases.Results:The numbers of hypo-intensity, iso-intensity, hyper-intensity and heterogeneous signal intensity of T1WI in the brain metastatic group were 54, 23, 9 and 19, respectively, while the numbers of hypo-intensity and iso-intensity in the non-brain metastatic group were 52 and 51, respectively, with statistically significant difference ( P<0.001). The numbers of hypo-intensity, iso-intensity, hyper-intensity and heterogeneous signal intensity of T2WI in the brain metastatic group were 1, 9, 72 and 23, respectively, while the numbers of iso-intensity and hyper-intensity in the non-brain metastatic group were 11 and 92, respectively, with statistically significant difference ( P<0.001). The numbers of hypo-intensity, hyper-intensity and heterogeneous signal intensity of DWI in the brain metastatic group were 4, 31 and 65, respectively, while the number of hyper-intensity in the non-brain metastatic group was 4 and others were iso-intensity, respectively, with statistically significant difference ( P<0.001). The numbers of hypo-intensity, iso-intensity, hyper-intensity and heterogeneous signal intensity of T2WI/FLAIR in the brain metastatic group were 4, 5, 60 and 36, respectively, while all cases in the non-brain metastatic group were hyper-intensity, with statistically significant difference ( P<0.001). The number of lesion accompanied with peripheral edema in the brain metastatic group were 69 cases, significantly higher than 0 cases in the non-brain metastatic group ( P<0.001). The mean ADC value in the brain metastatic group were (0.919±0.019)×10 -3 mm 2/s, significantly lower than (1.098±0.012)×10 -3 mm 2/s of non-brain metastatic group ( P<0.05). Conclusions:For patients with a history of primary malignancy, the MRI plain scan signals of T1WI, T2WI, T2WI/FLAIR and DWI are significantly different between brain metastatic tumor and non-metastatic tumor. The mixed signal, peripheral edema and the restriction of DWI diffusion indicate brain metastases. The combined application of the above parameters can improve the diagnostic efficacy of predicting brain metastases, and contrast enhancement MRI examination should be performed for the confirmation of diagnosis.

Objective:To explore the value of multi-parametric MRI for thyroid gland in differentiating benign and malignant thyroid nodules.Methods:From December 2018 to May 2020, 78 patients with 91 post-surgically pathologically confirmed thyroid nodules were enrolled in Cancer Hospital & Shenzhen Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College. For each patient, the following MRI findings were obtained including the nodules′ location, size, shape, margin, signal intensity, cystic change, degree and pattern of contrast enhancement, involvement of surrounding structure, and ADC values. The time-intensity curve (TIC) were plotted and subtyped based on dynamic contrast enhancement MRI. The MRI findings between the benign and malignant thyroid nodules were compared using Mann-Whitney U test, χ 2 test or Fisher exact test. Multiple logistic regression analysis was used to select independent predictive variables and build a combined model, and the ROC curve was used to evaluate the diagnostic performance of each MRI finding and the combined model. Results:Between the benign and malignant thyroid nodules, the significant differences were found in size, shape, margin, presence of cystic changes, T 1WI signal intensity, ADC value, enhancement homogeneity, TIC subtypes and presence of thyroid capsule involvement ( P<0.05). Multivariate logistic analysis showed that ill-defined margin (OR=77.61), no presence of cystic changes (OR=36.11) and difference between TIC subtypes (OR=83.41) were independent predictive variables, and the area under the ROC curve (AUC) was 0.879, 0.788, and 0.751, respectively. The AUC, sensitivity and specificity of the combined model were 0.977, 0.986, and 0.904, respectively. Conclusions:Thyroid multi-parametric MRI derived findings can be used for the differential diagnosis of benign and malignant nodules. Combined with the independent risk factors with ill-defined margin, no presence of cystic changes, TIC of type plateau or washout, the diagnostic model has a higher diagnostic efficiency.

Objective:To investigate the feasibility and reproducibility of using three-dimensional arterial spin labeling (3D-ASL) technique to evaluate the thyroid blood flow (TBF) in healthy adults and compare the difference in TBF between subjects with different gender and age.Methods:In this prospective study, 100 healthy adult subjects were enrolled from November 2018 to June 2019 in Chinese Academy of Medical Sciences Cancer Hospital, Shenzhen Hospital. All subjects received thyroid 3D-ASL MRI scanning, but several subjects were excluded from analysis for reasons including intolerance to examination ( n=1), overt artifacts ( n=11), abnormality detected in thyroid gland during conventional MRI ( n=15), resulting in 73 subjects included. Two attending radiologists independently evaluated the quality of ASL images and measured the TBF in upper, middle and lower poles of each lobe in thyroid gland bilaterally. Cohen’s Kappa was used to test the agreement in image quality between 2 radiologists, while intraclass correlation (ICC) analysis was implemented to evaluate the consistency in TBF measurements. Univariate variance analysis was used to compare the TBF in upper, middle and lower pole of thyroid gland unilaterally, and student t-test was performed to test the difference in TBF between two lobes, or in the same lobe but between different gender or age groups. Results:For image quality, 2 radiologists have good agreement (Kappa=0.753, P<0.001). In terms of TBF, consistency was moderate in the lower pole of left lobe between 2 radiologists (ICC=0.648, P<0.001), but good in the remaining parts of thyroid gland (all ICC>0.75, P<0.001). Unilaterally, TBF in the middle pole was significantly higher than those in the upper or lower pole ( P<0.001), but no significant difference was found between the upper and lower pole ( P>0.05). Regardless of upper, middle or lower pole, TBF in the right lobe was higher than the counterpart in the left lobe ( t=6.182, 6.294, 4.896, P<0.001). Between male subjects ( n=31) and female subjects ( n=42), no significant difference was found in the corresponding upper, middle or lower pole of thyroid lobe unilaterally ( P>0.05). As for age group, TBF in the middle pole of thyroid gland was higher in the middle age group (45-59 years old, n=12) than that in the young adult group (18-44 years old, n=61) ( t=3.868, P=0.003 for the left lobe, and t=2.647, P=0.022 for the right lobe), but no significant difference was found in the upper or lower pole of the unilateral thyroid lobe ( P>0.05). Conclusion:ASL can accurately measure blood flow perfusion in the thyroid gland with good reproducibility.