1.Clinical Observation on Navel Application of Jianpi Hewei Adhesive Plaster Combined with Oral Use of Modified Sini Hewei Anshen Decoction for the Treatment of Diabetic Gastroparesis Accompanied by Anxiety in Type 2 Diabetes
Xiao-Qian HUANG ; Jun-Huai ZHOU ; Xue-Fei CHU ; Ying LIU ; Xi DU
Journal of Guangzhou University of Traditional Chinese Medicine 2024;41(3):589-597
		                        		
		                        			
		                        			Objective To evaluate the clinical efficacy of navel application of Jianpi Hewei Adhesive Plaster combined with oral use of modified Sini Hewei Anshen Decoction in treating diabetic gastroparesis(DGP)accompanied by anxiety of liver-stomach disharmony type in type 2 diabetes patients.Methods One hundred patients with DGP accompanied by anxiety of liver-stomach disharmony type were randomly divided into a treatment group and a control group,with 50 patients in each group.The control group was given oral use of Mosapride Citrate Tablets orally,and the treatment group was given navel application of Jianpi Hewei Adhesive Plaster combined with oral use of modified Sini Hewei Anshen Decoction.The course of treatment for the two groups covered 4 weeks.The two groups were observed in the changes of the traditional Chinese medicine(TCM)syndrome scores,Gastroparesis Cardinal Symptom Index(GCSI)scores,Hamilton Anxiety Scale(HAMA)scores,gastric emptying time,and levels of fasting blood glucose(FBG),2-hour postprandial blood glucose(2hPG),glycated hemoglobin(HbA1c),plasma motilin(MOT),gastrin(GAS),and serum tumor necrosis factor alpha(TNF-α)and interleukin 6(IL-6)before and after the treatment.After treatment,the clinical efficacy and safety of the two groups were evaluated.Results(1)During the trial,4 patients in the treatment group and 3 patients in the control group fell off,and eventually a total of 93 patients were included for the efficacy statistics,including 46 patients in the treatment group and 47 patients in the control group.(2)After 4 weeks of treatment,the total effective rate of the treatment group was 95.65%(44/46)and that of the control group was 76.60%(36/47).The intergroup comparison(tested by chi-square test)showed that the therapeutic effect of the treatment group was significantly superior to that of the control group(P<0.01).(3)After treatment,the TCM syndrome scores(including epigastric and abdominal congestion,depression or irritability,and poor appetite)and GCSI scores in the two groups were decreased compared with those before treatment(P<0.05)and the gastric emptying time was shortened compared with that before treatment(P<0.05),and the effect of the treatment group on decreasing TCM syndrome scores and GCSI scores and on shortening the gastric emptying time were significantly superior to that of the control group(P<0.01).(4)After treatment,the plasma MOT and GAS levels of the two groups were increased compared with those before treatment(P<0.05),and the increase in the treatment group was significantly superior to that in the control group(P<0.01).(5)After treatment,the levels of glucose metabolism indicators of FBG,2hPG,and HbA1c in the two groups were decreased compared with those before treatment(P<0.05),but the differences of all glucose metabolism indicators between the two groups after treatment were not statistically significant(P>0.05).(6)After treatment,the serum TNF-α and IL-6 levels in the two groups were decreased compared with those before treatment(P<0.05),and the decrease in the treatment group was significantly superior to that in the control group(P<0.05).(7)After treatment,the total HAMA scores and the scores of mental anxiety factor and somatic anxiety factor of HAMA in the two groups were decreased compared with those before treatment(P<0.05),and the effect on lowering the scores in the treatment group was significantly superior to that in the control group(P<0.05).(8)During the treatment period,no significant adverse reactions occurred in the two groups of patients,which has high safety.Conclusion Navel application of Jianpi Hewei Adhesive Plaster combined with oral use of modified Sini Hewei Anshen Decoction exerts certain efficacy in treating DGP accompanied by anxiety of liver-stomach disharmony type.The therapy is effective on relieving clinical symptoms,enhancing gastric motility,inhibiting inflammatory response,and improving anxiety emotion and the quality of life of the patients.
		                        		
		                        		
		                        		
		                        	
2.Clinical Observation on Yiqi Yangyin Jiangtang Prescription Combined with Acupoint Injection in the Treatment of Newly-diagnosed Type 2 Diabetes Mellitus
Xi DU ; Jun-Huai ZHOU ; Xue-Fei CHU ; Xiao-Qian HUANG ; Ying LIU
Journal of Guangzhou University of Traditional Chinese Medicine 2024;41(4):847-855
		                        		
		                        			
		                        			Objective To observe the clinical efficacy of Yiqi Yangyin Jiangtang Prescription(mainly composed of Astragali Radix,Rehmanniae Radix,Imperatae Rhizoma,Ophiopogonis Radix,and Puerariae Lobatae Radix)combined with acupoint injection in the treatment of newly-diagnosed type 2 diabetes mellitus(T2DM).Methods One hundred patients with newly-diagnosed T2DM of qi-yin deficiency complicated with blood stasis type were randomly divided into a treatment group and a control group,with 50 patients in each group.The control group was given oral use of Metformin Hydrochloride Tablets,and the treatment group was given the granules of Yiqi Yangyin Jiangtang Prescription orally combined with acupoint injection at unilateral points of Zusanli(ST36),Shenshu(BL23)and Qihai(CV6)on the basis of treatment for the control group.The course of treatment lasted for 4 weeks.Before and after the treatment,the two groups were observed in the changes of traditional Chinese medicine(TCM)syndrome scores,fasting plasma glucose(FPG),2-hour postprandial blood glucose(2hPG),glycated hemoglobin(HbA1c),total cholesterol(TC),triglyceride(TG),and serum levels of inflammatory factors of interleukin 6(IL-6),C-reactive protein(CRP),tumor necrosis factor α(TNF-α),as well as the hemorheology indicators of whole blood low-shear viscosity and whole blood high-shear viscosity.After treatment,the clinical efficacy and safety of the two groups were evaluated.Results(1)During the trial,5 cases fell off from the treatment group and 4 cases fell off from the control group,and a total of 91 patients were eventually included in the efficacy statistics,of which 45 cases were in the treatment group and 46 cases were in the control group.(2)After 4 weeks of treatment,the total effective rate of the treatment group was 93.33%(42/45),and that of the control group was 71.74%(33/46).The intergroup comparison(tested by chi-square test)showed that the therapeutic effect of the treatment group was significantly superior to that of the control group(P<0.01).(3)After treatment,the scores of TCM symptoms of dry mouth and throat,frequent nocturia,shortness of breath and fatigue,hot flushes and night sweating as well as the total TCM syndrome scores in the two groups were significantly lower than those before the treatment(P<0.05),and the reduction of the scores in the treatment group was significantly superior to that of the control group(P<0.01).(4)After treatment,the levels of blood glucose and lipid indicators of FPG,2hPG,HbA1c,TC and TG of patients in the two groups were decreased compared with those before treatment(P<0.05),and the decrease in the treatment group was significantly superior to that in the control group(P<0.05 or P<0.01).(5)After treatment,the serum levels of inflammatory factors of IL-6,CRP,and TNF-α in the two groups were all lower than those before treatment(P<0.01),and the reduction in the treatment group was significantly superior to that in the control group(P<0.01).(6)After treatment,the levels of hemorheology indicators such as whole blood low-shear viscosity and high-shear viscosity in the two groups were all lower than those before treatment(P<0.05),and the reduction in the treatment group was significantly superior to that in the control group(P<0.05).(7)The incidence of adverse reactions in the treatment group was 8.89%(4/45),which was significantly lower than that of the control group(21.74%,10/46),and the difference was statistically significant(P<0.01).Conclusion Yiqi Yangyin Jiangtang Prescription combined with acupoint injection exerts certain effect in treating patients with newly-diagnosed T2DM of qi-yin deficiency complicated with blood stasis syndrome type.The combined therapy can effectively alleviate the early clinical manifestations,decrease the levels of blood glucose,blood lipids,and inflammatory factors,and improve the hematological indicators and the quality of life of the patients.
		                        		
		                        		
		                        		
		                        	
3.Clinical Observation on the Acupuncture at Neiyingxiang Points Combined with Western Medicine in the Treatment of Allergic Rhinitis of Deficiency-Cold of Lung Qi Type
Jian HUANG ; Ying-Kai GAO ; Cun-Jun LIU ; Dian-Xun WANG ; Xin-Yue WANG ; Dan-Yang WU
Journal of Guangzhou University of Traditional Chinese Medicine 2024;41(4):944-950
		                        		
		                        			
		                        			Objective To observe the clinical efficacy of acupuncture at Neiyingxiang(EX-HN09)points combined with western medicine in the treatment of allergic rhinitis of deficiency-cold of lung qi type.Methods Sixty patients with deficiency-cold of lung qi type of allergic rhinitis were randomly divided into observation group and control group,with 30 patients in each group.The control group was treated with Desloratadine Tablets combined with Mometasone Furoate Aqueous Nasal Spray,and the observation group was treated with acupuncture at Neiyingxiang points combined with the self-made rhinitis recipe on the basis of the control group,and the clinical efficacy of the two groups was evaluated after 14 days.The changes of nasal symptom scores,Visual Analogue Scale(VAS)and rhinoconjunctivitis quality of life scores of the patients of the two groups were observed before and after the treatment.After 14 days of treatment,the clinical efficacy of the two groups was evaluated.The changes in nasal symptom scores,as well as VAS and rhinoconjunctivitis quality of life questionnaire(RQLQ)scores were observed before and after treatment.The changes in traditional Chinese medicine(TCM)sydnrome scores and serum immunoglobulin E(IgE)were compared before and after treatment in the two groups,and the safety of the two groups was evaluated.Results(1)The total effective rate of the observation group was 93.33%(28/30),and the control group was 73.33%(22/30).The efficacy of the observation group was superior to that of the control group,and the difference was statistically significant(P<0.05).(2)After treatment,the symptoms of nasal congestion,sneezing,runny nose and nasal itching were significantly improved in the two groups(P<0.01),and the observation group was significantly superior to the control group in improving nasal symptoms,and the differences were statistically significant(P<0.05).(3)After treatment,the VAS scores of patients in the two groups were significantly improved(P<0.01),and the observation group was superior to the control group in improving VAS scores,with statistically significant differences(P<0.05).(4)After treatment,the PQLQ scores of patients in the two groups improved significantly(P<0.01),and the observation group was significantly superior to the control group in improving the PQLQ scores,and the difference was statistically significant(P<0.05).(5)After treatment,the TCM syndrome scores of the patients in the two groups were significantly improved(P<0.01),and the observation group was significantly superior to the control group in improving TCM syndrome scores,with statistically significant differences(P<0.05).(6)After treatment,the serum IgE levels of patients in the two groups were significantly improved(P<0.01),and the observation group was significantly superior to the control group in improving serum IgE levels(P<0.05),with a statistically significant difference.(7)There was no significant difference in the incidence of adverse reactions between the observation group and the control group(P>0.05).Conclusion Acupuncture at Neiyingxiang points plus self-made rhinitis recipe combined with western medicine in the treatment of deficiency-cold of lung qi type of allergic rhinitis can significantly improve the clinical symptoms of the patients,thus improving the quality of life of the patients,and the therapeutic efficacy is remarkable.
		                        		
		                        		
		                        		
		                        	
4.Progress in Clinical Research and Experimental Study of Danggui Shaoyao Powder in the Treatment of Chronic Pelvic Inflammatory Disease
Zi-Yi FENG ; Jia-Jun LIU ; Lan WANG ; Wan-Ying CHEN ; Jie-Ming HUANG
Journal of Guangzhou University of Traditional Chinese Medicine 2024;41(4):1091-1096
		                        		
		                        			
		                        			Chronic pelvic inflammatory disease(CPID)is a common chronic inflammatory disease in women,and has a long course and is easy to relapse.Danggui Shaoyao Powder is from Jin Gui Yao Lve(Synopsis of the Golden Chamber),which was a commonly-used formula for the treatment of women's abdominal pain in ancient medical records.It is now often used in the treatment of CPID and has achieved satisfactory therapeutic effect.The article summarizes and analyzes the achievements in the clinical research and experimental study of Danggui Shaoyao Powder in the treatment of CPID over the past 10 years,and invesigates the clinical efficacy of Danggui Shaoyao Powder in the treatment of CPID and its therapeutic mechanism.In the field of clinical studies,Danggui Shaoyao Powder for the treatment of CPID was used by modification,or alone,or in combination with antibiotics and Chinese medicine external treatment,and its combined use was effective on significantly improving the indicators of inflammatory response and immune function,alleviating the clinical signs and symptoms such as pain,and did not increase the incidence of adverse reactions compared with the application of western medicines alone.In the field of experimental studies,Danggui Shaoyao Powder played the therapeutic role in CPID by decreasing the adhesion of endothelial cells,regulating the degradation of extracellular matrix,improving the level of inflammatory factors,and down-regulating the expression of proteins related to the nuclear factor κB(NF-κB)pathway.
		                        		
		                        		
		                        		
		                        	
5.Effect of electroacupuncture on the expression of P53 and P21 in articular cartilage and subchondral bone of aged rats with knee osteoarthritis
Xiarong HUANG ; Lizhi HU ; Guanghua SUN ; Xinke PENG ; Ying LIAO ; Yuan LIAO ; Jing LIU ; Linwei YIN ; Peirui ZHONG ; Ting PENG ; Jun ZHOU ; Mengjian QU
Chinese Journal of Tissue Engineering Research 2024;28(8):1174-1179
		                        		
		                        			
		                        			BACKGROUND:There are many treatment methods for knee osteoarthritis,among which electroacupuncture,as an important non-drug treatment,is effective in the treatment of knee osteoarthritis,but its exact mechanism is not clear. OBJECTIVE:Effect of electroacupuncture on the expression of p53 and P21 in articular cartilage and subchondral bone of aged rats with knee osteoarthritis. METHODS:Eight 6-month-old male Sprague-Dawley rats were included in the young group and sixteen 24-month-old male Sprague-Dawley rats were randomly divided into old group(n=8)and electroacupuncture group(n=8).The rats in the electroacupuncture group received electroacupuncture stimulation once a day,5 days a week,for 8 continuous weeks,and the other two groups did not do any treatment.Eight weeks later,the level of type Ⅱ collagen C-terminal peptide in peripheral blood was detected by ELISA,the morphology of left knee cartilage and subchondral bone was observed by safranin O-fast green staining,the degree of knee cartilage degeneration was evaluated by modified Mankin's score,the microstructure of left knee cartilage and subchondral bone was detected by micro-CT,and the expression levels of matrix metalloproteinase 13,P53,P21 Mrna and protein were detected by RT-PCR and western blot respectively. RESULTS AND CONCLUSION:Compared with the young group,the level of C-terminal peptide of type Ⅱ collagen in the peripheral blood was increased in the old group(P<0.05).The micro-CT results showed that the bone volume fraction,bone mineral density and the number of bone trabeculae were decreased in the old group compared with the young group(P<0.05),while the trabecular separation increased(P<0.05).Safranin O-fast green staining showed that in the old group,the surface layer of cartilage was uneven with fissures,the morphology of chondrocytes was irregular and stained unevenly,the boundary between the cartilage and subchondral bone was blurred,and the matrix loss was serious.The Mankin's score was higher in the old group than the young group(P<0.05).The expression of matrix metalloproteinase 13,P53,P21 at Mrna and protein levels increased in the old group compared with the young group(P<0.05).Compared with the old group,electroacupuncture decreased the level of C-terminal peptide of type Ⅱ collagen(P<0.05),increased the bone volume fraction,bone mineral density and the number of bone trabeculae(P<0.05),and decreased the trabecular separation(P<0.05).Safranin O-fast green staining showed that in the electroacupuncture group,the surface of cartilage was smooth and red staining was uniform,and the cell morphology and structure were between the young group and the old group.Following electroacupuncture treatment,the Mankin's score(P<0.05),matrix metalloproteinase 13 and P21 Mrna expression(P<0.05),and matrix metalloproteinase 13 and P53 protein expression decreased(P<0.05),while there was a decreasing trend of P53 Mrna and P21 protein expression,but with no statistical significance(P>0.05).To conclude,electroacupuncture may delay articular cartilage degeneration and subchondral osteoporosis in aged rats by inhibiting the expression of P53 and P21,so as to protect joints and delay joint aging.
		                        		
		                        		
		                        		
		                        	
6.Application Situation on PI3Kδ Inhibitors in B-cell Lymphoma
Fanli ZHENG ; Yanan ZHENG ; Lili HUANG ; Chenjun SHEN ; Jun LU ; Jiajia YING ; Siyue LOU
Chinese Journal of Modern Applied Pharmacy 2024;41(6):847-858
		                        		
		                        			
		                        			PI3K/AKT/mTOR signaling pathway plays a crucial role in cell proliferation, survival, differentiation, motility and intracellular transport. PI3Kδ, an isoform of PI3K, is highly expressed in B lymphocytes and is involved in the malignant progression of B-cell lymphoma. Thus, PI3Kδ has emerged as an attractive target for the development of anti-B-cell lymphoma drugs. Currently, there are several PI3Kδ inhibitors approved by the FDA for the treatment of B-cell lymphoma, each with its own characteristics, but also with varying degrees of adverse effects in clinical practice. Due to the complexity and diversity of the pathogenesis of B-cell lymphoma, single-target PI3Kδ inhibitors often have limited efficacy and are prone to drug resistance, and need to be combined with chemotherapy or other targeted drugs to enhance their efficacy. The future trend is to design novel inhibitors with higher efficacy and lower toxicity or to develop novel combination regimens with other chemotherapy, radiotherapy, and target drugs to acquire better anti-tumor effects with reduced adverse effects. This review summarizes the PI3Kδ inhibitors that have been approved for the treatment of B-cell lymphoma or are still in clinical trials, mainly focusing on their characteristics, adverse effects and combination regimens.
		                        		
		                        		
		                        		
		                        	
7.Effect of pericapsular nerve group block with wound infiltration on postoperative analgesia after total hip arthroplasty
Ying HUANG ; Jun WANG ; Chunshan DONG
China Modern Doctor 2024;62(1):47-51
		                        		
		                        			
		                        			Objective To investigate the effect of pericapsular nerve group(PENG)block with wound infiltration(WI)on postoperative analgesia after total hip arthroplasty(THA).Methods A total of seventy-eight patients who were scheduled to undergo THA in the Third Affiliated Hospital of Anhui Medical University from December 2021 to October 2022 were selected.According to random number table method,they were divided into PENG block group and PENG block +WI group,39 cases in each group.Numerical rating scale(NRS)score of postoperative rest and exercise,incidence of postoperative movement block,first walking time,incidence of rescue analgesia and adverse reactions were compared between two groups.Results At 6h and 12h after surgery,NRS scores at rest in PENG block +WI group were significantly lower than those in PENG block group(P<0.05),and at 6h,12h and 24h after surgery,NRS scores at exercise in PENG block +WI group were significantly lower than those in PENG block group(P<0.05).The first walking time of patients in PENG block +WI group was significantly shorter than that in PENG block group[(22.48±4.00)h vs.(24.73±1.94)h,t=3.150,P=0.003].There were no significant differences in incidence of rescue analgesia,movement block at different time points,nausea and vomiting,and postoperative agitation between two groups(P>0.05).Conclusion PENG block +WI can reduce the postoperative pain of THA patients,and is conducive to early activity,which is in line with the concept of enhanced recovery after surgery.
		                        		
		                        		
		                        		
		                        	
8.Impact of ambient ozone exposure on death from cardiovascular and cerebrovascular diseases in Minhang District, Shanghai
Jie LIU ; Jun HUANG ; Xiaowen XU ; Lingyan ZHEN ; Linli CHEN ; Shengjie YING ; Xihao DU
Journal of Environmental and Occupational Medicine 2024;41(5):467-473
		                        		
		                        			
		                        			Background Ozone (O3) pollution has gradually become a primary problem of air pollution in recent years. Conducting epidemiological studies on the correlation between O3 concentration variation and risk of cardiovascular and cerebrovascular diseases can provide reference data for O3 risk assessment and related policy making. Objective To quantitatively evaluate the effects of O3 exposure on mortalities of cardiovascular and cerebrovascular diseases among residents in Minhang District, Shanghai. Methods Data of mortalities of cardiovascular and cerebrovascular diseases, air pollutants, and meteorological factors in Minhang District of Shanghai from January 1, 2016 to December 31, 2021 were collected. Associations between O3 concentration and the mortalities due to total cardiovascular and cerebrovascular diseases, coronary heart disease, and stroke were analyzed by generalized additive models with a quasi Poisson distribution with different lag patterns, such as current day effect (lag0), single-day lag effects (lag1-lag3), and cumulative lag effects (lag01-lag03). The subgroup analyses of age, sex, and season were conducted. Furthermore, temperature was divided into low, middle, and high levels based on the 25th percentile (P25) and the 75th percentile (P75) to perform hierarchical analyses. Increased excess risks (ER) of death from target diseases caused by a 10 µg·m−3 increase in daily maximum 8 h concentration of O3 (O3-8 h) and their 95% confidence intervals (CI) were used to indicate the effects of O3. Results The associations between O3 and the risks of death from cardiovascular and cerebrovascular diseases were statistically significant at lag2, lag3, lag02, and lag03 (P<0.05), with the greatest effect size observed at lag03. The ER values of death from cardiovascular and cerebrovascular diseases in general population, male residents, and people aged 65 years and older, from coronary heart disease in male residents, and from stroke in general population increased by 1.02% (95%CI: 0.36%, 1.69%), 1.40% (95%CI: 0.47%, 2.34%), 0.87% (95%CI: 0.19%, 1.55%), 1.96% (95%CI: 0.49%, 3.44%), and 1.02% (95%CI: 0.07%, 1.98%) for a 10 µg·m−3 increase in O3-8 h concentration at lag03, respectively. During the warm season (from April 1 to September 30), the ER values of death from cardiovascular and cerebrovascular diseases and coronary heart disease per 10 µg·m−3 increase in O3 were 1.18% (95%CI: 0.33%, 3.33%) and 2.69% (95%CI: 0.39%, 5.03%), while the O3 effect was only statistically significant on cardiovascular and cerebrovascular diseases during the cold season (from October 1 to March 31 next year). At the middle and high temperature levels, the ER values of death from cardiovascular and cerebrovascular diseases increased by 1.63% (95%CI: 0.32%, 2.96%) and 1.14% (95%CI: 0.17%, 2.12%) respectively. The two-pollutant models showed similar results after including other pollutants (carbon monoxide, nitrogen dioxide, sulfur dioxide, fine particulate matter, or inhalable particulate matter). Conclusion Ambient O3 pollution may increase the mortality risks of cardiovascular and cerebrovascular diseases, coronary heart disease, and stroke in Minhang District of Shanghai.
		                        		
		                        		
		                        		
		                        	
9.Analysis of vision screening and glasses wearing status among students in primary and secondary schools in Xi'an City
Yan YANG ; Qianqian MA ; Jun LI ; Ying HUANG ; Songjie ZHANG ; Yanbo WANG
International Eye Science 2024;24(12):1992-1996
		                        		
		                        			
		                        			 AIM: To understand the visual acuity and spectacle usage among primary and secondary school students in Xi'an city, providing scientific evidence for making myopia prevention and control efforts.METHODS:Vision screening and spectacles usage survey was conducted on 38 226 students in 119 primary and secondary schools from 16 counties and districts in Xi'an city, and uncorrected visual acuity, refractive power, glasses wearing rate, full correction rate were statistically analyzed.RESULTS:The myopia rate among primary and secondary school students in Xi'an city is 61.53%, showing an increasing trend as the grade level goes up(χ2trend=5332.203, P<0.01). Among them, the proportion of mild myopia decreases with the increase of grade level, while the proportion of moderate and high myopia shows an upward trend with the increase of grade level(χ2trend=2671.562, P<0.01). The glasses wearing rate among myopic students is 51.69%, showing an upward trend as the grade level goes up(χ2trend=1486.941, P<0.01). The spectacle prescription rate for female students is higher than that for male students(χ2=23.659, P<0.01), and the rate in urban areas is higher than that in suburban counties(χ2=102.241, P<0.01). The full correction rate among students wearing glasses is 67.08%, and the rate for students wearing glasses in urban areas is higher than that in suburban counties(χ2=4.980, P<0.05). Among myopic students, 63.66% had undergone visual acuity checks more than or equal to twice in the past year, with vocational high school students having the lowest frequency of twice vision screenings, accounting for 58.06%. There is a negative correlation between myopic students residing in suburban counties and their glasses wearing rate, while a higher grade level and increased frequency of annual vision checks are positively correlated with the glasses wearing rate among myopic students(all P<0.01).CONCLUSION:The situation of students' myopia prevention and control is severe in Xi'an city, with low rates of spectacles usage, full correction, and frequency of visual checks. Special attention needs to be paid to the vision correction status of students in suburban counties, primary schools, and vocational high schools. 
		                        		
		                        		
		                        		
		                        	
10.A Case Report of Clinical Features Analysis of a Novel IKBKG Variant Leading to Anhidrotic Ectodermal Dysplasia and Immunodeficiency
Xiaomei HUANG ; Ying LUO ; Tingyan HE ; Yongbin XU ; Yu XIA ; Zhi YANG ; Xiaona ZHU ; Yanyan HUANG ; Ruohang WENG ; Jun YANG ; Linlin WANG
JOURNAL OF RARE DISEASES 2024;3(4):492-500
IKBKG is the essential modulator for nuclear factor-κB(NF-κB) signaling pathway, and mutations within this gene can lead to anhidrotic ectodermal dysplasia and immunodeficiency (EDA-ID). Here we report a male patient, who presented with mild frontal bossing, sparse hair, skin pigmentation, conical teeth, and recurrent infections involving bacteria, fungi, and viruses after one month of age, together with hypogammaglobulinemia. These symptoms were consistent with the phenotype of EDA-ID. Genetic analysis revealed a hemizygous mutation c.1249T > G (p.Cys417Gly) in exon 10 of the 
            

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