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Objective To analyze the relationship between dietary and lifestyle inflammatory scores and metabolic syndrome, diabetes mellitus, cardiovascular disease, non-alcoholic fatty liver disease, tumor and other common metabolic diseases, and to explore the impact of dietary and lifestyle inflammatory potential on metabolic diseases, so as to provide new ideas for the diagnosis, treatment and prevention of metabolic diseases. Methods Databases such as CNKI, Wanfang , and PubMed were searched, and literatures related to the dietary and lifestyle inflammatory scores (DLIS) and metabolic diseases were reviewed . Results Seven articles showed that dietary and lifestyle inflammation scores had a positive correlation with metabolic diseases, and two articles showed that only lifestyle inflammatory scores had a positive correlation with metabolic diseases. Conclusion Dietary and lifestyle inflammatory scores may be positively correlated with metabolic diseases, but some results are still controversial. Further studies are needed to prove the correlation between DLIS and metabolic diseases.
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Globally, gynecological malignancies are common types of female cancer and the main cause of cancer death among women. Cervical cancer, endometrial cancer and ovarian cancer, which are the main types of gynecological cancers, pose a significant threat to women's health worldwide. Studies have shown that diet plays an important role in the occurrence and development of gynecological cancers such as cervical cancer, endometrial cancer, and ovarian cancer, for which added sugar may be an influencing factor due to its food source characteristic and related biological effect. However, this paper reviewed the research progress on the relationship between consumption of added sugar and gynecological cancers such as endometrial cancer, ovarian cancer and cervical cancer, with a view to providing a reference for the active prevention of gynecological cancer.
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Myeloid-derived suppressor cells (MDSCs) are a group of immature and heterogeneous cells that can inhibit T cell function. In pathological conditions such as tumors, infections, and chronic inflammation, the large expansion of MDSCs is involved in processes of immune escape, immune tolerance and inflammatory reactions. MDSCs are also crucial in the pathophysiology of hepatitis B virus (HBV) infection, however, their activation, differentiation, and function during HBV infection are still unclear. This article reviews the general characteristics and roles of MDSCs in HBV infection, as well as related drug therapies, in order to provide information for further research on the related mechanism and potential targeted treatment.
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Objective:To investigate the prevalence of depression symptoms in residents, and to analyze the demographic characteristics, training status and psychological influencing factors in order to provide the evidence for the mental health management and intervention of residents in China at current stage.Methods:A total of 1 050 participants from eight different training centers in Shenyang, Dalian, Jinzhou and Fushun of Liaoning Province were investigated by Pittsburgh sleep quality index, International physical activity questionnaire, Survey of perceived organizational support, Psychological capital questionnaire and Minnesota satisfaction questionnaire, which covered questions including social demographic information, training information, sleep status, physical activity, organization support, psychological capital, job satisfaction and depressive symptoms of residents. SPSS 22.0 were used to carry out statistical analysis such as logistic regression.Results:A total of 962 valid questionnaires were collected and the results showed that 44.59% (429/962) of residents had depressive symptoms. High training grade ( ORPGY-3=1.775, P=0.006) and poor quality of sleep ( OR=1.662, P<0.001) were risk factors of depressive symptoms, whereas psychological capital ( OR=0.962, P<0.001) and job satisfaction ( OR=0.972, P=0.001) were protective factors of depressive symptoms. Conclusion:The prevalence of depressive symptoms is high in residents. Training grade, sleep quality, psychological capital and job satisfaction are closely associated with the high prevalence of depressive symptoms, which should be paid more attention to.
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Objective:To investigate the correlation between serum N-terminal pro-brain natriuretic peptide (NT-pro-BNP) and lipoprotein phospholipase A2 (Lp-PLA2) levels and the severity of coronary artery lesions in patients with acute coronary syndrome (ACS) complicated with type 2 diabetes mellitus (T2DM) .Methods:A total of 68 patients with ACS and T2DM who were admitted to our hospital from Jun. 2018 to Oct. 2020 were selected as the experimental group, and the control group was 52 patients with simple ACS. The serum NT-pro-BNP and Lp-PLA2 levels of the two groups of patients were detected, and the correlation between the serum NT-pro-BNP and Lp-PLA2 levels and the degree of coronary artery disease in patients with ACS complicated with T2DM was analyzed to screen for ACS complicated with T2DM. Influencing factors of moderate to severe coronary artery disease in diabetic patients were selected.Results:The serum levels of NT-pro-BNP[ (349.18±45.98 vs 235.68±26.37) ] ng/L and Lp-PLA2 [ (421.84±55.84 vs 318.62±36.69) ] ng/mL in the experimental group were higher than those in the control group ( P<0.05) . The levels of serum NT-pro-BNP [ (374.35±39.42 vs 320.88±35.41) ] ng/L and Lp-PLA2 [ (452.67±48.32 vs 387.16±40.45) ]ng/mL in the moderate-severe group were higher than those in the mild group ( P<0.05) . Serum NT-pro-BNP and Lp-PLA2 levels were positively correlated with the severity of coronary artery lesions in patients with ACS and T2DM ( r=-0.585, P=0.000; r=-0.595, P=0.000) . Serum NT-pro-BNP and Lp-PLA2 were risk factors for moderate to severe coronary artery disease in patients with ACS complicated with T2DM ( P<0.05) . Conclusion:Serum levels of NT-pro-BNP and Lp-PLA2 in patients with ACS complicated with type 2 diabetes mellitus are related to the degree of coronary artery disease.
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At present, the incidence and mortality of cancers are increasing year by year, which has become a major global public health problem and the main cause of death of global population. In recent years, studies have shown that branched-chain amino acids levels play an important part in the incidence and prognosis of some malignant tumors, such as colorectal cancer, pancreatic cancer, liver cancer, breast cancer and so on. Therefore, this article summarizes the studies on the relationship between the level of branched-chain amino acids and cancers, providing clues for further exploration of the correlation between the two.
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Ovarian cancer, one of the gynecological malignancies, poses a serious threat to women's health. The machine learning combines statistics and computer science. Researchers apply the machine learning to the clinical diagnosis and prognosis research of ovarian cancer. This article reviews the applications of machine learning in ovarian cancers. The results show that the predictive ability of machine learning models is better than traditional statistical models, but further test and verification are needed in prospective large-scale studies.
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The incidence rate of ovarian cancer ranks the third among female malignant tumors, the mortality rate ranks the first and the prognosis is poor. Ovarian cancer poses a serious threat to the health of women's lives. The incidence of ovarian cancer is related to heredity, endocrine disorders and adverse lifestyle factors. In recent years, some scholars have carried out the impact of lifestyle, especially shift work, on the occurrence and development of ovarian cancer. Shift work can lead to circadian disruption, which affects hormonal balance in the body and may be a risk factor for ovarian cancer. This review summarizes four cohort studies and two case-control studies on the relation between shift work and ovarian cancer. The conclusion of the studies is inconsistent, suggesting that further researches are needed.
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Objective:Exposure to pollutants may induce aggravation of asthma in children through various ways.Ambient black carbon(BC)is a typical pollutant in Northeast China, and there has been no research report on the relationship between atmospheric BC exposure and childhood asthma in Northeast China.This study is to investigate the association between the atmospheric concentration of BC and hospital visits of daily childhood asthma.Methods:During the period of January 1 to August 31 in 2019, 52 653 hospital visits of childhood asthma children were recorded in several hospitals in Shenyang.A time series analysis was conducted to explore the relationship between the atmospheric concentration of BC and hospital visits of daily childhood asthma.Results:During the study period, the total number of children with asthma in outpatient and emergency departments in Shenyang was 52 653, the average concentration of BC was 2.58 mg/m 3.Increased concentrations of BC(2.00~10.03 mg/m 3)( RR=1.17, 95% CI: 1.07~1.28)and NO 2(0~88 μg/m 3)( RR=1.21, 95% CI: 1.06~ 1.39)were significantly associated with elevated number of childhood asthma in outpatient and emergency departments( P< 0.05). The highest cumulative effect of increased pollutants on children′s asthma within 10 days was BC( RR=1.60, 95% CI: 1.23~2.08). Conclusion:There is a positive association between BC concentration and hospital visits of childhood asthma, the accumulative effect of BC on childhood asthma is greater than other pollutants.
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Objective To analyze the epidemiological evidence on the relationship between ultra-processed foods intake and metabolic syndrome. Methods CNKI, Wanfang database, PubMed and Web of Science Core Collection database were searched to obtain literature, as of June 10, 2020, about ultra-processed foods intake and metabolic syndrome. The relevant literature was reviewed and analyzed. Results A total of 4 epidemiological studies about the relationship between ultra-processed foods intake and metabolic syndrome were found, of which three studies suggested a positive correlation, and one study suggested no correlation. Conclusion There may be a positive correlation between ultra-processed foods intake and metabolic syndrome, but the research results available are still controversial. Further research is needed to explore the relationship between ultra-processed foods intake and metabolic syndrome.
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In China, the aging of the population is becoming increasingly serious. Common diseases of the elderly, such as sarcopenia and metabolic syndrome, have gradually become key factors affecting their quality of life. Sarcopenia is a decline in skeletal muscle mass and function associated with aging. Metabolic diseases such as obesity, hypertension and diabetes play an important role in the development of sarcopenia. In recent years, the relationship between sarcopenia and metabolic syndrome has also become a research hotspot, but there is still a lack of strong evidence on whether they are a risk factor for each other. This paper summarizes the epidemiological data of the relationship between sarcopenia and metabolic syndrome in the last 5 years, and reviews the epidemiological background, research status and potential links in biological mechanism of sarcopenia and metabolic syndrome. There is a significant correlation between sarcopenia and metabolic syndrome that may share similar biological mechanisms. However, there are still some limitations in this study. In addition, the methods of early screening and diagnosis of sarcopenia should be continuously explored to achieve the purpose of simplicity, rapidity and efficiency. This review aims to raise the population's awareness of chronic syndromes sarcopenia and metabolic syndrome, and to provide theoretical support for further research on their relevance.
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The incidence of cervical cancer remains high globally, especially in developing countries, which poses a serious threat to women's life and health. How to reduce the risk of cervical cancer has become the focus of the efforts of researchers in this field. Dietary patterns are analyzed based on the overall dietary status, and at the same time the interaction between nutrients and food is taken into consideration. Accumulating evidence suggests that dietary patterns play an important role in the prevention of cervical cancer. This review summarizes the relationship between different dietary patterns and the incidence of cervical cancer, and aims to provide a basis for more in-depth research in the future.
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Abstract: Ovarian cancer is a gynecological malignant tumor with the highest fatality rate. It is characterized by concealed onset and poor prognosis. Recent studies have found that carbohydrate intake, food glycemic index and food glycemic load are closely related to the incidence of ovarian cancer. In this article, we summarize the current progress of the above-mentioned research and provide references for the prevention and future research of ovarian cancer.
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Hyperuricemia is a chronic disease caused by the imbalance of uric acid synthesis and excretion, which is influenced by both environmental and genetic factors. The results of genome-wide association analysis related to hyperuricemia in different regions during the past decade have shown that genes related to hyperuricemia may be region- specific. This article summarizes the genes detected by GWAS, and describes some of the involved molecular mechanisms. The genes related to hyperuricemia shared by people in Europe, Asia, Africa and South America, and genes related to hyperuricemia unique to Asian populations are reviewed in this article. In addition, some of the genes’ functions are discussed to enhance the understanding of the pathogenesis of hyperuricemia.
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OBJECTIVE：To establish a method for the content determination of to tal flavonoids from Amomum tsao-ko ，and to optimize the purification technology by macroporous resin. METHODS ：The content of total flavonoids was measured by HPLC. The determination was performed on Eclipse Plus C 18 column with mobile phase consisted of acetonitrile- 1％ acetic acid solution （15∶85，V/V）at the flow rate of 0.8 mL/min. The column temperature was 40 ℃，and the detection wavelength was set at 256 nm. The sample size was 10 μL. Taking the adsorption and desorption performance as indexes，6 kinds of macroporous resins were screened out by static adsorption and desorption tests ；adsorption and desorption time were investigated by static adsorption and desorption kinetics tests. Using the content of total flavonoids （calculated by rutin ）as index ，with sample concentration ，sample pH，ethanol volume fraction and elution amount as factors ，based on single factor test ，orthogonal design was used to optimize the purification technology of total flavonoids from A. tsao-ko ，and validation test was performed. RESULTS ：The linear range of rutin were 0.028-0.281 mg/mL（r＝0.999 9）. The limit of quantification was 437.5 ng/mL and the limit of detection was 109.4 ng/mL. RSDs of precision ，stability and reproducibility tests were all lower than 2％；the recoveries were 96.24％-99.75％（RSD＜2％，n＝ 6）. The comprehensive capacity of adsorption and desorption of HPD 450 macroporous resin was the most suitable ，and the best static adsorption and desorption time both were 12 h. The optimal purification technology was 1.854 4 mg/mL ； ethanol elution was 8 times of the column volume. Vertificationtests show that after optimized ，the content of total flavonoids from A. tsao-ko increased from 22.556 7 mg/g to 57.728 2 mg/g. The purity of was 2.56 and stable for the content determination. Optimal purification technology is stable and feasible ，which is suitable for purifieation of total flavonoids from A. tsao-ko .
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Objectives To analyze the studies about predicting COVID-19 by math models, to provide evidences and experiences to reduce the hazard of COVID-19. Methods PubMed, CNKI and other databases were searched for studies involving math models of COVID-19, and the studies were compared with each other and the real data. Results A total of 21 publications were included. SIR, SEIR and other models were used to predict the prevalence and evaluate the interventions. The results were predicted by SEIR+CAQ model were the closest to the actual situation. And the control measures have effectively restrained COVID-19. Conclusion Characteristics of COVID-19 and prevention measures should be concerned, when predicting the epidemic trend of COVID-19.
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Objective@#To analyze the variations of procalcitionin (PCT) and red blood cell distribution width (RDW) in premature infants with septicemia and to investigate their values in evaluating the severity and prognosis of septicemia.@*Methods@#A retrospective study was conducted to analyze the medical records of 96 premature infants diagnosed with septicemia and admitted to the First Affiliated Hospital of Anhui Medical University from December 1, 2014 to December 1, 2018. According to the severity of the disease and neonatal shock score, there were 42 cases selected to the severe septicemia group (severe clinical condition with shock, shock score >6 points) and 54 in the mild septicemia group (mild clinical condition without shock or shock score ≤6 points). Moreover, after three days' treatment, they were divided into two groups: death group (n=10) and survival group (n=86, survived during hospitalization). Peripheral venous blood samples were collected before and on the first and third day after treatment to detect PCT and RDW. Dynamic changes of the two indexes were compared between different groups. Mann-Whitney U test, Wilcoxon rank sum test, Friedman test or receiver operating characteristic (ROC) curve was used for statistical analysis.@*Results@#(1) Before and on the first and third day after treatment, the severe septicemia group had a higher level of PCT than the mild group [3.7 (0.4-37.3) vs 1.4 (0.2-5.0) ng/ml, 43.1 (18.7-83.0) vs 17.1 (4.1-34.6) ng/ml, 26.1 (3.8-67.3) vs 4.8 (0.3-32.9) ng/ml; Z=-2.017, -3.350 and -2.932; all P<0.05]. In both groups, PCT level on the first day after treatment was the highest, and that on the third day after treatment was higher than that before treatment (all P<0.05). On the first and third day after treatment, RDW in the severe group was higher than that in the mild group [16.5% (16.2%-18.6%) vs 16.3% (15.5%-17.3%), 16.1% (15.5%-19.4%) vs 15.7% (15.1%-16.5%); Z=-1.992 and -2.165; both P<0.05]. In the severe and mild groups, RDW on the first day after treatment was higher than that before and on the third day after treatment; in the mild group, RDW on the third day after treatment was lower than that before treatment, while in the severe group, RDW on the third day after treatment was higher than that before treatment (all P<0.05). (2) On the first and third day after treatment, PCT and RDW in the death group were higher than those in the survival group [PCT: 162.0 (62.9-187.2) vs 19.9 (4.3-46.1) ng/ml, 122.6 (65.0-180.8) vs 6.2 (0.5-32.9) ng/ml; Z=-4.114 and -4.594; RDW: 18.4% (16.9%-21.2%) vs 16.3% (15.7%-17.2%), 21.8% (20.6%-22.2%) vs 15.8% (15.2%-16.5%); Z=-3.307 and -4.831; all P<0.05]. In both groups, PCT on the first day after treatment was higher than that before and on the third day after treatment, and the level on the third day after treatment was higher than that before treatment (all P<0.05). In the death group, RDW on the first and third day after treatment were higher than that before treatment, and RDW on the third day after treatment was higher than that on the first day; in the survival group, RDW on the first day after treatment was higher than that before treatment, but on the third day after treatment, it was lower than that before and on the first day after treatment (all P<0.05). (3) The cut-off values of PCT for predicting severe septicemia in premature infants before and on the first and third day after treatment were 3.475, 29.765 and 3.460 ng/ml, respectively, and the sensitivity and specificity were 54.8% and 75.9%, 69.0% and 72.2%, and 83.3% and 46.3%, respectively. The cut-off values of PCT for predicting the death of premature infants with septicemia on the first and third day after treatment were 40.595 and 64.855 ng/ml, respectively, with the specificity of 73.3% and 87.2% and sensitivity of both 100.0%. The predictive thresholds of RDW for severe septicemia on the first and third day after treatment were 15.650% and 18.300%, respectively, and the sensitivity and specificity were 95.2% and 29.6%, 33.3% and 92.6%, respectively. The predictive thresholds for death were 16.650% and 18.450%, and the sensitivity and specificity were 100.0% and 68.6%, 100.0% and 91.9%, respectively.@*Conclusions@#Dynamic monitoring of PCT and RDW levels may help with early diagnosis, determination of severity and prognosis prediction of severe septicemia in premature infants.
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Objective To analyze the variations of procalcitionin (PCT) and red blood cell distribution width (RDW) in premature infants with septicemia and to investigate their values in evaluating the severity and prognosis of septicemia. Methods A retrospective study was conducted to analyze the medical records of 96 premature infants diagnosed with septicemia and admitted to the First Affiliated Hospital of Anhui Medical University from December 1, 2014 to December 1, 2018. According to the severity of the disease and neonatal shock score, there were 42 cases selected to the severe septicemia group (severe clinical condition with shock, shock score >6 points) and 54 in the mild septicemia group (mild clinical condition without shock or shock score ≤6 points). Moreover, after three days' treatment, they were divided into two groups: death group (n=10) and survival group (n=86, survived during hospitalization). Peripheral venous blood samples were collected before and on the first and third day after treatment to detect PCT and RDW. Dynamic changes of the two indexes were compared between different groups. Mann-Whitney U test, Wilcoxon rank sum test, Friedman test or receiver operating characteristic (ROC) curve was used for statistical analysis. Results (1) Before and on the first and third day after treatment, the severe septicemia group had a higher level of PCT than the mild group [3.7 (0.4-37.3) vs 1.4 (0.2-5.0) ng/ml, 43.1 (18.7-83.0) vs 17.1 (4.1-34.6) ng/ml, 26.1 (3.8-67.3) vs 4.8 (0.3-32.9) ng/ml; Z= － 2.017, － 3.350 and － 2.932; all P<0.05]. In both groups, PCT level on the first day after treatment was the highest, and that on the third day after treatment was higher than that before treatment (all P<0.05). On the first and third day after treatment, RDW in the severe group was higher than that in the mild group [16.5% (16.2%-18.6%) vs 16.3% (15.5%-17.3%), 16.1% (15.5%-19.4%) vs 15.7% (15.1%-16.5%);Z= － 1.992 and － 2.165; both P<0.05]. In the severe and mild groups, RDW on the first day after treatment was higher than that before and on the third day after treatment; in the mild group, RDW on the third day after treatment was lower than that before treatment, while in the severe group, RDW on the third day after treatment was higher than that before treatment (all P<0.05). (2) On the first and third day after treatment, PCT and RDW in the death group were higher than those in the survival group [PCT: 162.0 (62.9-187.2) vs 19.9 (4.3-46.1) ng/ml, 122.6 (65.0-180.8) vs 6.2 (0.5-32.9) ng/ml; Z= － 4.114 and － 4.594; RDW: 18.4% (16.9%-21.2%) vs 16.3% (15.7%-17.2%), 21.8% (20.6%-22.2%) vs 15.8% (15.2%-16.5%); Z=－3.307 and －4.831;all P<0.05]. In both groups, PCT on the first day after treatment was higher than that before and on the third day after treatment, and the level on the third day after treatment was higher than that before treatment (all P<0.05). In the death group, RDW on the first and third day after treatment were higher than that before treatment, and RDW on the third day after treatment was higher than that on the first day; in the survival group, RDW on the first day after treatment was higher than that before treatment, but on the third day after treatment, it was lower than that before and on the first day after treatment (all P<0.05). (3) The cut-off values of PCT for predicting severe septicemia in premature infants before and on the first and third day after treatment were 3.475, 29.765 and 3.460 ng/ml, respectively, and the sensitivity and specificity were 54.8% and 75.9%, 69.0% and 72.2%, and 83.3% and 46.3%, respectively. The cut-off values of PCT for predicting the death of premature infants with septicemia on the first and third day after treatment were 40.595 and 64.855 ng/ml, respectively, with the specificity of 73.3% and 87.2% and sensitivity of both 100.0%. The predictive thresholds of RDW for severe septicemia on the first and third day after treatment were 15.650% and 18.300%, respectively, and the sensitivity and specificity were 95.2% and 29.6%, 33.3% and 92.6%, respectively. The predictive thresholds for death were 16.650% and 18.450%, and the sensitivity and specificity were 100.0% and 68.6%, 100.0% and 91.9%, respectively. Conclusions Dynamic monitoring of PCT and RDW levels may help with early diagnosis, determination of severity and prognosis prediction of severe septicemia in premature infants.
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To explore target blood pressure (BP) for lower incidence rate of stroke and better prognosis in patients with H‐type hypertension .Methods :A total of 600 patients with H‐type hypertension according to BP were divided into low level group (＜ 120／90mmHg or DBP ＜ 90mmHg , n ＝ 200 ) , medium level group (120 ～ 130／90mmHg or DBP＜90mmHg ,n＝ 200 ) and high level group (130～140／90mmHg or DBP＜ 90mmHg ,n＝ 200 ) , three groups were treated for two years .Levels of BP ,serum homocysteine (Hcy) ,carotid intima‐media thickness (CIMT) were measured and compared among three groups before and after treatment ,and incidence rates of ad‐verse events were recorded in three groups during follow‐up .Results :During follow‐up ,there were gradual signifi‐cant reductions in serum Hcy level and CIMT in three groups ,P＜0.05 or ＜0. 01. After four‐week follow‐up ,com‐pared with low level group ,there were significant rise in levels of BP and Hcy in medium and high level group ,and SBP of high level group was significantly higher than that of medium level group ,CIMT was significantly higher than the other two groups , P＝0.001 all ;after eight‐week and two‐year follow‐up ,compared with low level group , there were significant rise in levels of BP ,Hcy and CIMT in medium and high level group ,SBP and CIMT of high level group were significantly higher than those of medium level group ;and Hcy level of medium level group was sig‐nificantly higher than that of high level group after two‐year follow‐up , P＜0.05 or ＜0.01. After two‐year follow‐up ,recurrence rate of stroke ,incidence rates of cardiovascular diseases and adverse reactions in high level group were significantly higher than those of low and medium level group ,and recurrence rate of stroke in medium level group was significantly lower than that of low level group , P＜0.05 or ＜0.01. Conclusion :Total therapeutic effect of low level group is significantly better than those of medium and high level group .It can more significantly reduce Hcy level ,further reduce recurrence rate of stroke and mortality and more comprehensively control risk factors of cardiovascular diseases .
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Objective To explore the diagnosis and treatment of atypical severe combined immunodeficiency disease (SCID). Methods The clinical data of atypical SCID in 7 children with IL2RG,JAK3,and RAG1 mutations were reviewed and analyzed from September 2012 to June 2017. Results In 7 cases (6 males and 1 female), there were 5 infants, 1 toddler and 1 school-age child. Cases 2, 4, and 6 were classic SCID clinical phenotypes. Cases 1, 3, 5, 7 were atypical SCID clinical phenotypes. Case 6 were diagnosed with Omenn syndrome. Cases 2, 5 were classic SCID immune phenotypes, cases 1, 3, 4, 6, 7 were atypical SCID immune phenotypes, and case 1 had maternal chimera. The next generation sequencing indicated that case 1 had a compound heterozygous JAK3 mutation with c.3097-1G>A/c.946-950GCGGA>ACinsGGT.Cases 2,3,and 4 had IL2RG mutations,with c.865C>T/p.R289X,c.664C>T/R222C,52delG,respectively.Case 5 had JAK3 mutations with c.2150A>G/p.E717G and c.1915-2A>G.Sanger sequencing indicated that case 6 had a RAG1 mutation of complex heterozygosity with c.994C>T/p.R332X and c.1439G>A/p.S480N. Case 7 had homozygous RAG1 mutation with c.2095C>T/p.R699W.Conclusion Under certain conditions,gene mutation can lead to atypical clinical and/or immune phenotypic SCID.