OBJECTIVE: To investigate the gene carrier rate and genotype distribution characteristics of thalassemia in the population of Kunming, and compare the differences of red blood cell (RBC) parameters between β⁺ heterozygous carriers, β⁰ heterozygous carriers and healthy population, as well as between different sexes of adults aged 18-45 years. METHODS: A retrospective analysis of 3 195 cases of thalassemia gene screened in the First Affiliated Hospital of Kunming Medical University from April 1, 2020 to March 31, 2022 was performed to detect 21 mutations of β-globin genes which was common in Chinese people using fluorescence PCR melting curve method. Patients with single heterozygous carrying β-thalassemia gene were divided into β⁺ heterozygote group and β⁰ heterozygote group, while the control group consisted of 219 healthy individuals. Four indices, including RBC, hemoglobin (Hb), mean corpuscular volume (MCV), and mean corpuscular hemoglobin (MCH) were collected from all β heterozygous carriers and 219 healthy people, and compared between β⁺ heterozygote group, β⁰ heterozygote group and control group, as well as between β⁺ heterozygous carriers, β⁰ heterozygous carriers and healthy population of different sexes aged 18-45 years. RESULTS: There were 688 cases confirmed thalassemia gene carriers, accounting for 21.53%. Among them, 322 cases were found to have β-globin gene mutations, including 145 cases of β⁺ heterozygote, 151 cases of β⁰ heterozygote, and 14 cases of β⁺ homozygotes as well as β⁺ and β⁰ dual heterozygotes. Additionally, 12 cases were found to have simultaneous mutation or deletion of β-globin and α-globin. The carrier rate of CD26 G>A mutation in β⁺ thalassemia was the highest, accounting for 57.9%, while in β⁰ thalassemia CD17 A>T was the highest, accounting for 46.4%. The erythrocyte parameters of 296 β heterozygous mutation carriers were compared with the normal reference interval, and it was found that 218 cases with RBC value greater than the highest value of reference interval, while 105, 281, and 269 cases with Hb, MCV, and MCH value less than the lowest value of reference interval, respectively. There were significant differences in the 4 erythrocyte parameters between β⁺ heterozygotes, β⁰ heterozygotes and healthy individuals (all P < 0.001), and further comparison between different sexes also showed significant differences (all P < 0.001). CONCLUSIONS The carrier rates of thalassemia gene and β-thalassemia heterozygote are both at high level in Kunming, and there are significant differences in the erythrocyte parameters between β⁺ heterozygous carriers, β⁰ heterozygous carriers and healthy individuals. When genetic counseling, it is necessary to inform and strengthen screening among adults of marriageable age to prevent birth of children with severe thalassemia.
Humans ; beta-Thalassemia/blood* ; Adult ; Heterozygote ; Male ; Female ; beta-Globins/genetics* ; Retrospective Studies ; Middle Aged ; Mutation ; Adolescent ; Genotype ; Erythrocytes ; Erythrocyte Indices ; Young Adult ; China ; Genetic Testing ; Asian People/genetics*

ObjectiveThis study aimed to investigate the HIV genotypic subtypes and molecular transmission clusters among men who have sex with men （MSM） with newly reported HIV infections in Dehong Dai and Jingpo Autonomous Prefecture （Dehong Prefecture）， Yunnan Province， China， between 2010 and 2019. The study aimed to identify potential high-risk transmitters and provide reference data for screening， management， and intervention of infection sources. MethodsPlasma samples from newly reported HIV-positive MSM individuals in Dehong Prefecture between 2010 and 2019 were collected. The viral pol gene fragments were amplified， sequenced， and genotyped. Genetic distances （GD） between pairwise sequences were analyzed and calculated. MEGA 7.0 and Gephi were used for phylogenetic and molecular transmission network analysis. ResultsA total of 159 newly reported HIV infections among MSM were included in the study， with successful genotyping of 100 cases. Nine HIV-1 subtypes were identified， with the most prevalent being CRF01_AE subtype （52%）， followed by CRF07_BC subtype （31%）， CRF55_01B subtype （10%）， and others （7%）. Cluster analysis revealed a total network access rate of 67%， forming three transmission clusters. CRF01_AE subtype formed two transmission clusters with 38 and 3 infected individuals， while CRF07_BC subtypes formed one transmission cluster with 26 infected individuals. The transmission network within the CRF01_AE clusters exhibited a more complex relationship. Significant differences in educational level were observed between the two main transmission clusters. ConclusionThe predominant HIV subtypes among newly reported MSM cases in Dehong Prefecture between 2010 and 2019 were CRF01_AE and CRF07_BC. Significant cultural differences are observed between the main transmission clusters. Continued monitoring of genotypic subtypes and targeted interventions within transmission clusters are warranted.

OBJECTIVE To establish the met hod for the purific ation of test sample of Banxialu granules ，and to determine the contents of 4 ephedrine components such as ephedrine ，pseudoephedrine，norpseudoephedrine and methylephedrine. METHODS Three batches of Banxialu granules were extracted with methanol（containing 1％formic acid ）and pretreated with QuEChERS method of N-propyl ethylenediamine adsorbent （PSA）and octadecyl bonded silica gel adsorbent （C18）. Ultra high performance liquid chromatography tandem triple quadrupole mass spectrometry （UHPLC-MS/MS）was adopted. The separation was performed on an Agilent XDB-C 18 column with 5 mmol/L ammonium acetate solution （containing 0.1％ formic acid ）-acetonitrile as mobile phase（gradient elution ）at the flow rate of 0.40 mL/min. The column temperature was set at 30 ℃，and sample size was 2 μL. The electrospray ionization source was adopted ，and positive ion scanning was performed in multiple reaction monitoring mode. The ion pairs used for quantitative analysis were m/z 166.2→148.1（ephedrine，pseudoephedrine），m/z 152.2→134.1（norpseudoephedrine）， m/z 180.2→162.2（methylephedrine）. RESULTS The solution obtained by QuEChERS purification method was clear and nearly colorless. The linear ranges of ephedrine ， pseudoephedrine， norpseudoephedrine and methylephedrine were 1.38-206.82， 1.41-212.13，1.29-19.34，1.99-59.83 ng/mL（r＞0.99）. The limits of detection were 0.41，0.42，0.39 and 0.60 ng/mL. The limits of quantitation were 1.38 ，1.41 ，1.29 and 1.99 ng/mL，respectively. RSDs of precision ，stability（48 h）and repeatability tests were all lower than 2％. The average recoveries were 95.75％-100.87％（RSD＜2％，n＝9）. The contents of above 4 ephedrine components were 20.62-26.02，20.96-24.90，2.26-2.63，5.36-6.32 μg/g， respectively. CONCLUSIONS Established method is simple ，rapid，sensitive and suitable for simultaneous determination of 4 ephedrine components in Banxialu granules.

Objective:To learn about the epidemic law of animal plague in natural plague focus of Himalayan Marmot in Yumen City of Gansu Province, to explore the epidemiological characteristics of plague in the area and to provide scientific basis for formulating prevention and control strategies of the plague. Methods:The animal plague surveillance data of natural plague focus of Himalayan Marmot in Yumen City, Gansu Province from 2014 to 2021 were collected, main host density, rate of infected with fleas, flea index, small rodent species, bacteriology, serology were studied. Excel 2007 software was used to analyze the plague epidemic situation in the focus. Results:From 2014 to 2021, the total average density was 0.06 per hm 2 of the marmots. A total of 19 300 traps were placed, and 209 rats were caught, with an average catch rate of 1.08%. Among them, Dipus sagitta (59.81%, 125/209) and Mongolian Five-toed Jerboa(31.10%, 65/209) were dominant small rodent species. Totally 877 marmots were checked, 184 with flea. The rate of infected with fleas of marmots was 20.98%, with a flea index of 1.00, Callopsylla dolabris (52.69%, 461/875) and Oropsylla silantiewi (47.20%, 413/875) were dominant species in vector. The rate of infected with fleas of burrow was 7.72% (173/2 241), with a flea index of 0.20. A total of 39 strains of Yersinia pestis were isolated from infected animals. Among them, 35 strains from the marmots, and 4 strains from vectors. Totally 913 serum samples were checked from marmots and shepherd dog, the positive serum was 34. Among them, the positive rate of shepherd dog was 13.98% (33/236). Conclusions:The plague epidemic situation in natural plague focus of Himalayan Marmot in Yumen City of Gansu Province is still serious. The monitoring of plague should be strengthened, and the comprehensive measures for prevention and control of the plague should be carried out to prevent a outbreak of the plague in human being.

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 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.

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 explore the value of chest CT features and clinical indexes in the differential diagnosis between suspected COVID-19 with two or more negative nucleic acid tests and confirmed COVID-19. Methods: The clinical data and chest CT images of 105 cases withconfirmedCOVID-19 (55 males and 50 females, aged from 2 month to 88 years) and 97 cases with suspected COVID-19(59 males and 38 females, aged from 1 month to 93 years) were analyzed retrospectively in Shiyan Taihe Hospital from January 21 to February 10, 2020. χ²test and two independent sample t test were used to analyze the clinical data and CT signs of the two cases, with P<0.05 for the difference statistically significant. Results: Compared with the suspected patients, the average age of diagnosis of covid-19 was higher (t = 2.460, P = 0.01). The main pathological changes were pure ground glass (68 cases) and mixed ground glass density (53 cases) (χ² = 50.016, P< 0.01). Interstitial thickening (83 cases) (χ² = 55.395, P< 0.01), vascular thickening (73 cases) (χ² = 57.527, P< 0.01), air bronchoscopic sign or bronchiectasis Zhang (67 cases) (χ² = 17.899, P< 0.01), cord focus (54 cases) (χ² = 5.500, P = 0.02), easily distributed under the pleura and the long axis of the lesion was parallel to the pleura (89 cases) (χ² = 23.597, P< 0.01), most of them had no pleural effusion (χ² = 7.017, P< 0.01); both lesions were mainly distributed in patches (89 cases were confirmed, 87 suspected) (χ² = 19.573, P< 0.01). In addition, the lesions of patients with confirmed covid-19 showed progress in short term (72 / 87, 82.76%), and those with suspected covid-19 showed remission in short term (63 / 89, 70.78%). The difference was statistically significant (χ² = 51.114, P< 0.01). There was no significant difference in gender and distribution of pulmonary lobes (χ² = 1.462, P= 0.23; χ² = 7.381, P= 0.19). The number of white blood cells (χ² = 17.891, P< 0.01) and the percentage of lymphocytes (χ² = 11.151,P< 0.01) of covid-19 were mostly normal or decreased, creatine kinase (χ² = 9.589, P< 0.01) were mostly normal, and erythrocyte sedimentation rate was mostly normal or increased (χ² = 4.240, P= 0.04). Conclusions The imaging features and biochemical indexes of diagnosed COVID-19 are different from those of suspected COVID-19. The comparative analysis of imaging features, clinical indexes and reexamination are helpful for the differential diagnosis of COVID-19 and suspected COVID-19.

Objective To predict the response of induction chemotherapy in advanced nasopharyngeal carcinoma (NPC)by using pretreat-ment apparent diffusion coefficient (ADC)values.Methods 35 patients with advanced NPC underwent DWI examination prior to 2-week in-duction chemotherapy.The patients were divided into CR (complete response)group,PR (partial response)one and SD (stable disease)one according to the tumor response of treatment.The effective responders included CR and PR groups.The patients were divided into children-adolescents(below 20 years)group and adults one according to the age,into non-keratinizing undifferentiated carcinoma group and non-kera-tinizing differentiated carcinoma one according to the pathological type,and also into T2,T3 and T4 groups according to the T-staging (UICC2010).Statistical analysis was used to compare the pretreatment ADC values between different groups.Results The average pre-treatment ADC values of CR,PR,responders and SD groups were (0.70±0.06)×10 -3 mm2/s,(0.72±0.04)×10 -3 mm2/s,(0.71± 0.04)×10 -3 mm2/s and (0.85±0.02)×10 -3 mm2/s respectively.The average pretreatment ADC value of the SD group was signif-icantly higher than that of PR group and responders,and the differences were significant (P <0.05).The average pretreatment ADC value of children-adolescents and adults groups were (0.73±0.07)×10 -3 mm2/s and (0.75 ±0.07)× 10 -3 mm2/s,which showed no significant differences.The average pretreatment ADC value of non-keratinizing undifferentiated carcinoma and non-keratinizing dif-ferentiated carcinoma groups were (0.76 ±0.08)×10 -3 mm2/s and (0.74±0.06)×10 -3 mm2/s,which showed no significant differ-ences.The average pretreatment ADC values of T2,T3 and T4 groups were (0.78±0.05)×10 -3 mm2/s,(0.77 ±0.07)×10 -3 mm2/s and (0.75±0.08)×10 -3 mm2/s.Although there were no significant differences between T2,T3 and T4 groups,a trend towards lower ADC was observed with increasing tumor T-staging.Conclusion Pretreatment ADC value is a valuable quantitative parameter,and it can be used for predicting induction chemotherapy response in advanced naso-pharyngeal carcinoma.

Objective To summarize the CT features of anaplastic thyroid carcinoma (ATC).Methods CT manifestations of 12 patients with ATC confirmed by surgery or biopsy were analyzed retrospectively.Results 1 1 (91.7%)patients had single lesion. The lesions appeared as low attenuation mass with cord-like,flocculent or patchy high attenuation areas.The lesions had mild to moderate enhancement in 1 1 cases (91.7%).Coarse calcifications were detected in 8 cases (66.7%),4 of them were incomplete rim or eggshell.11 cases (91.7%)showed invasion into adjacent structures,including trachea (6 cases,50%),esophagus (4 cases,33.3%),strap muscles (7 cases,58.3%),larynx (2 cases,1 6.7%),blood vessels (6 cases,50%).5 cases (41.7%)had tumor thrombus in the internal jugular vein.10 cases (83.3%)had lymph nodes metastasis.The enhancements of lymph nodes were divided into 3 types:mild homogeneous enhancement (4 cases,40%),mild enhancement with internal low-attenuation areas (7 cases,70%)and ring-like enhancement without internal enhancement (7 cases,70%).Conclusion CT features of ATC include low-density mass with cords,flocculent and patchy high-density areas,coarse calcification and mild to moderate enhancement,invasion to adjacent structure and lymph node metastasis with necrosis are common.