RÉSUMÉ
Objective:To understand the incidence and genetic characteristics of thalassemia in newborns in Baisha Li Autonomous County, Hainan Province, and to provide data support for government decision-making departments to formulate appropriate policies for prevention and control of thalassemia.Methods:With the help of Newborn Disease Screening Network of Hainan Province, samples of dry blood spots on the heels of newborns born in Baisha Li Autonomous County from January to June 2020 were collected based on the principle of informed consent. Fluorescent PCR melting curve method was used to detect the common types of thalassemia genes in Chinese population, and some samples were verified by the PCR + flow-through hybridization method. Samples of suspected new or rare mutations were sent to gene companies for sequencing analysis.Results:A total of 391 samples of neonatal dry blood spots were collected, and 252 samples with thalassemia genes were detected, the detection rate was 64.45% (252/391). Among them, 213 samples with α-thalassemia genes were detected, and the detection rate was 54.48% (213/391); 13 samples with β-thalassemia genes were detected, and the detection rate was 3.32% (13/391); 26 samples with α- and β-thalassemia genes were detected, and the detection rate was 6.65% (26/391). Among the above mentioned thalassemia genotypes, 1 case of rare type α-thalassemia -α 4.2/HKαα and 1 case of rare type β-thalassemia β CD39/β N were detected. According to ethnicity, 176 samples with thalassemia genes were detected in 238 Li samples, with a detection rate of 73.95% (176/238); 67 samples with thalassemia genes were detected in 137 Han samples, with a detection rate of 48.91% (67/137); 9 samples with thalassemia genes were detected in 16 other ethnic samples, with a detection rate of 56.25% (9/16). Conclusions:The detection rate of neonatal thalassemia genes is relatively high in Baisha Li Autonomous County, Hainan Province, and α-thalassemia is the most common. It is recommended that relevant government departments of Hainan Province should carry out genetic testing of neonatal thalassemia in Baisha Li Autonomous County as soon as possible to ensure the quality of life of the newborns.
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Objective:To explore the correlation between TCM Syndromes of small pulmonary nodules (SPN) and the features of CT imaging and tumor markers in the chest.Methods:With retrospective study, the clinical data of 420 patients with small pulmonary nodules who were included from June 2016 to May 2018 from the East China Hospital Affiliated to Fudan University and Shanghai TCM Integrated Hospital were analized. The correlation between TCM syndromes and clinical high-risk indicators was analyzed by frequency analysis and Pearson correlation analysis.Results:The TCM syndromes were mainly lung qi and spleen qi deficiency syndrome (28.8%), followed by qi and yin deficiency syndrome (27.6%), lung yin deficiency syndrome (22.9%), qi deficiency and blood stasis syndrome (12.4%) and liver depression and spleen deficiency syndrome (8.3%). Compared with the patients with qi deficiency and blood stasis, the patients with liver depression and spleen deficiency had carcino embryonic antigen (CEA) level decreased significantly ( P<0.01); compared with the patients with qi and yin deficiency, CYFRA21-1 level in the patients with lung yin deficiency increased significantly ( P<0.001) and CYFRA21-1 level decreased in the patients with qi deficiency and blood stasis ( P=0.014); compared with the patients with lung yin deficiency, the level of neuron-specific- enolase (NSE) in the patients with lung qi and spleen qi deficiency. The level of NSE decreased ( P=0.044), and the level of NSE increased significantly in patients with liver depression and spleen deficiency ( P=0.005); there was no significant difference in the level of SCC between different syndromes ( F=0.825, P=0.551). The syndrome of deficiency of lung yin was moderately correlated with chronic bronchitis, smooth margin and burr ( r=0.613, -0.628, 0.755). The syndrome of qi and yin deficiency was lowly correlation to the solidity ( r=-0.421). The syndrome of lung qi and spleen qi deficiency was moderately correlation with the solidity ( r=0.540), and were low correlation with the chronic bronchitis history, ground glass, round, quasi round, and smooth edge ( r value was 0.303, -0.495, 0.376, -0.337, 0.319 respectively); liver depression and spleen deficiency syndrome were correlated with smoking history, chronic bronchitis history, left lower lobe of lung, isolated focus, multiple focus, quasi circle, NSE ( r value was -0.099, -0.150, 0.120, 0.113, -0.113, -0.107, 0.133 respectively); qi deficiency and blood stasis syndrome was moderately correlated with lobular shape ( r=0.682), and slightly correlated with irregular edge ( r=0.470). Conclusions:There is a certain correlation between TCM syndrome differentiation and clinical indexes in patients with pulmonary nodules. The level of tumor markers was different in different syndrome types. Among them, the lung yin deficiency syndrome and qi deficiency and blood stasis syndrome are at high risk of developing malignant tumors, but the lung qi and spleen qi deficiency syndrome, qi and yin deficiency syndrome and liver depression and spleen deficiency syndrome are at low risk of developing malignant tumors.
RÉSUMÉ
Objective To investigate the neonatal genetic carrier rate and genotype composition of thalassemia in Haikou city,and to evaluate the application of using dried blood spot specimens of neonates for population screening of thalassemia.Methods From January 2016 to December 2016,25% to 50% of all dried blood spot specimens of registered neonates were collected randomly by mechanical samping method in 30 hospitals of Haikou city everyday.Total of 6 864 samples were primarily analyzed by hemoglobin electrophoresis,and those with positive results were secondarily recalled for venous blood collection and subsequent genotyping tests.Feasibility of using neonatal dried blood spot specimens for population screening of thalassemia was retrospectively analyzed.Results A total of 6 864 neonatal dried blood spot specimens were analyzed.Out of 604 positive samples primarily screened by Hb electrophoresis, the positive rate was 8.80%,343 samples carried thalassemia gene mutations secondarily confirmed by genotyping test, the carrying rate was 5%(343/6 864),among which 81.92 %(281/343)were α-thalassemia,16.62%(57/343)were β-thalassemia and 1.46%(5/343)were both α-and β-thalassemia.In those α-thalassemia,the deleted α-gene types occupied 89.68%(252/281),the major genotype was --SEA/αα; the mutated α-gene types occupied 4.98%(14/281),the major genotype was αQS α/αα.In those β-thalassemia,there were 9 genotypes,the major genotype was CD41-42/N, occupying 61.40%(35/57).Conclusions The neonates have a relatively high carrying rate of thalassemia gene mutations in Haikou city, the genotype composition has geographical characteristics,and the major type is α-thalassemia.The method of using heel dried blood spot specimens on filter paper to screen thalassemia among neonates is advantageous and worthy of advocation.