1.Direct economic analysis of carbapenem-resistant gram-negative bacteria infections in southern Hainan region
Tingli SHI ; Chunyan ZHANG ; Rushou CHEN ; Xiefen LEI ; Lu WANG ; Haihua XU ; Xiangli CHEN ; Ting FU
Chinese Journal of Nosocomiology 2025;35(12):1871-1876
OBJECTIVE To analyze the direct economic burden associated with carbapenem-resistant gram-negative bacteria(CRGNB)infections during hospitalization,and to provide reference for relevant policy formulation.METHODS Basic information including ICU admission,International Classification of Diseases(ICD)codes and CRGNB infection of intensive care unit(ICU)inpatients from Sanya Central Hospital(the Third People's Hospi-tal of Hainan Province)in the southern Hainan region from 2019 to 2023 was collected for risk factor analysis.Propensity matching was performed between the CRGNB infection and non-infection subgroups,and the direct economic differences between the two groups were analyzed.RESULTS A total of 164 373 cases were includ-ed.Multifactor logistic regression analysis revealed that ICD codes F00-F99,G00-G99,I00-I99,J00-J99,L00-L99,N00-N99,P00-P96 and S00-T98,ICU admission,hospital-acquired infection,readmission within 90 days and hospitalization exceeding 7 days were risk factors for CRGNB infection,especially,codes J00-J99(respiratory system diseases)were 7.68 to 17.47 folds higer than codes C00-D48(tumors).In the direct economic analysis of CRGNB infection,different matching results yielded consistent findings.In the 1∶1 matching results,a compari-son of total hospitalization costs(yuan)between different groups showed that the infection group had higher total hospitalization costs than the non-infection group.The costs were as follows:CRGNB group(88 421.40 vs.32 475.56),subgroup with two or more CRGNB types(130 984.02 vs.47 367.27),group with CRGNB and oth-er multidrug-resistant bacteria(103 056.35 vs.37 724.78),CRAB group(98 486.01 vs.36 487.98),and CRE group(26 031.38 vs.17 621.82).CONCLUSIONS The direct economic burden of CRGNB infection is greater than that of the non-infection group.Among them,the direct economic burden of carbapenem-resistant gram-negative bacteria infection,carbapenem-resistant gram-negative bacteria co-infected with other multidrug-resistant bacteria and CRAB infection are the highest.
2.Direct economic analysis of carbapenem-resistant gram-negative bacteria infections in southern Hainan region
Tingli SHI ; Chunyan ZHANG ; Rushou CHEN ; Xiefen LEI ; Lu WANG ; Haihua XU ; Xiangli CHEN ; Ting FU
Chinese Journal of Nosocomiology 2025;35(12):1871-1876
OBJECTIVE To analyze the direct economic burden associated with carbapenem-resistant gram-negative bacteria(CRGNB)infections during hospitalization,and to provide reference for relevant policy formulation.METHODS Basic information including ICU admission,International Classification of Diseases(ICD)codes and CRGNB infection of intensive care unit(ICU)inpatients from Sanya Central Hospital(the Third People's Hospi-tal of Hainan Province)in the southern Hainan region from 2019 to 2023 was collected for risk factor analysis.Propensity matching was performed between the CRGNB infection and non-infection subgroups,and the direct economic differences between the two groups were analyzed.RESULTS A total of 164 373 cases were includ-ed.Multifactor logistic regression analysis revealed that ICD codes F00-F99,G00-G99,I00-I99,J00-J99,L00-L99,N00-N99,P00-P96 and S00-T98,ICU admission,hospital-acquired infection,readmission within 90 days and hospitalization exceeding 7 days were risk factors for CRGNB infection,especially,codes J00-J99(respiratory system diseases)were 7.68 to 17.47 folds higer than codes C00-D48(tumors).In the direct economic analysis of CRGNB infection,different matching results yielded consistent findings.In the 1∶1 matching results,a compari-son of total hospitalization costs(yuan)between different groups showed that the infection group had higher total hospitalization costs than the non-infection group.The costs were as follows:CRGNB group(88 421.40 vs.32 475.56),subgroup with two or more CRGNB types(130 984.02 vs.47 367.27),group with CRGNB and oth-er multidrug-resistant bacteria(103 056.35 vs.37 724.78),CRAB group(98 486.01 vs.36 487.98),and CRE group(26 031.38 vs.17 621.82).CONCLUSIONS The direct economic burden of CRGNB infection is greater than that of the non-infection group.Among them,the direct economic burden of carbapenem-resistant gram-negative bacteria infection,carbapenem-resistant gram-negative bacteria co-infected with other multidrug-resistant bacteria and CRAB infection are the highest.
3.Relationship between serum LRG1 and TGF-β1 and carotid intimal middle layer thickness and short-term poor prognosis in acute cerebral infarction
Haihua LIU ; Xiaohui WANG ; Hongyan SUN ; Lu ZHANG ; Dan WU
International Journal of Laboratory Medicine 2024;45(14):1725-1730
Objective To investigate the relationship between serum leucine-rich a-2 glycoprotein-1(LRG1),transforming growth factor-β1(TGF-β1)and the carotid intimal middle layer thickness(IMT)and short-term poor prognosis in acute cerebral infarction(ACI).Methods A total of 123 patients with ACI who were treated in Guangji Hospital of Suzhou from January 2020 to January 2023 were selected,and the patients were divided into normal group(23 cases),thickened group(30 cases)and plaque group(70 cases)according to the IMT,and 35 healthy physical examiners in Guangji Hospital of Suzhou during the same period were se-lected as the health control group,and the serum LRG1,TGF-β1 levels and IMT of 4 groups were compared.The patients were followed up for 3 months and divided into good prognosis group(75 cases)and poor prog-nosis group(48 cases)according to the prognosis.The correlation between serum LRG1,TGF-β1 and IMT was analyzed by Pearson method.Univariate and multivariate Logistic regression were used to analyze the risk factors of short-term poor prognosis in ACI patients.The receiver operating characteristics(ROC)curve was used to analyze the predictive value of serum LRG1 and TGF-β1 for the short-term poor prognosis of ACI.Re-sults The serum LRG1 level in health control group,normal group,thickened group and plaque group in-creased sequentially,and TGF-β1 level decreased sequentially(P<0.05).Pearson correlation analysis showed that serum LRG1 was positively correlated with IMT,while TGF-β1 was negatively correlated with IMT(P<0.05).Age,proportion of patients with diabetes,the National Institutes of Health Stroke Scale(NIHSS)score at admission,low-density lipoprotein cholesterol(LDL-C),fasting plasma glucose(FPG),white blood cell count(WBC),C-reactive protein(CRP)and serum LRG1 levels in the poor prognosis group were higher than those in the good prognosis group(P<0.05),time from onset to thrombolysis was longer than that in the good prognosis group(P<0.0.05),while the serum TGF-β1 level was lower than that in the good prognosis group(P<0.05).Multivariate Logistic regression analysis showed that high NIHSS score,long time from onset to thrombolysis,elevated serum LRG1 level and decreased TGF-β1 level were risk factors for short-term poor prognosis in ACI patients(P<0.05).ROC curve results showed that the area under the curve of the sin-gle and combined detection of serum LRG1 and TGF-β1 for predicting the short-term prognosis of ACI pa-tients were 0.824,0.708 and 0.902,respectively.Conclusion ACI patients have elevated serum LRG1 levels and decreased TGF-β1 levels.Serum LRG1 and TGF-β1 levels are closely related to the IMT and the short-term prognosis of ACI patients,and the combined detection of serum LRG1 and TGF-β1 levels have high ref-erence value for predicting the short-term poor prognosis of ACI patients.
4.Effect and Neuroimaging Mechanism of Scalp Acupuncture Combined with rTMS on Post-Stroke Cognitive Impairment based on the Resting-state Fraction Amplitude of Low Frequency Fluctuation
Dan XIONG ; Pan ZHU ; Haihua XIE ; Lin LU ; Hao LI ; Jie TAN ; Ning ZHAO
World Science and Technology-Modernization of Traditional Chinese Medicine 2024;26(9):2314-2320
Objective To explore the effect of scalp acupuncture combined with repetitive transcranial magnetic stimulation(rTMS)on global cognitive function in patients with post-stroke cognitive impairment(PSCI).To explore the resting-state neuroimaging mechanism of scalp acupuncture combined with rTMS in improving cognitive function in patients with PSCI using fraction amplitude of low frequency fluctuation(fALFF).Methods PSCI patients were randomly assigned to scalp acupuncture group and scalp acupuncture combined with rTMS group(the combined group).Both groups were given conventional rehabilitative training.The scalp acupuncture group selected the affected-side anterior oblique parietotemporal line(MS6).Low frequency(1Hz)rTMS over primary motor cortex(M1)of the unaffected-side in the combined group.The duration was once a day for 20 min,6 sessions one week,in total of 12 sessions for consecutive two weeks.Comparing the total and subtests of the Montreal Cognitive Assessment Scale(MoCA)before and after treatment.At the same time,the statistical method of Difference-in-Difference(DID)was used to analyze the trend of each observational index.The fALFF was used to detect the changes of spontaneous neurological activity in local brain areas and partial correlation analysis was performed with statistical differences cognitive behavioral indicators and significant fALFF values.Results A total of 47 subjects entered the final statistical analyses,including 25 subjects in the scalp acupuncture group and 22 subjects in the combined group.Compared with scalp acupuncture group,there were no significant differences in the global cognitive function in the combined group(P=0.914>0.05).However,the MoCA subscore-delayed memory task score was significantly improved in the combined group(P=0.035<0.05).At the same time,the trend analysis also showed that the improvement effect in the combined group was significantly better than those in the scalp acupuncture group(DID=0.80,t=2.20,P=0.033<0.05).After two weeks of intervention,compared with the baseline fALFF value,the increase of left precuneus,right cerebelum,left fusiform gyrus,left superior parietal gyrus in the combined group were significantly decreased than those of scalp acupuncture group.(GRF corrected,voxel P<0.01,cluster P<0.05).The results of partial correlation analysis showed that the fALFF difference of left fusiform gyrus was positively correlated with the difference of subscore-delayed memory in combined group(r=0.719,P<0.05).Other correlation analyses were not statistically significant(P>0.05).Conclusion Scalp acupuncture combined with rTMS intervention have definite efficacy in delayed memory.The underpinning neuroimaging mechanism may be related to local neurological spontaneous activity in brain regions involving in cognitive processing such as left fusiform gyrus.
5.Effect and Neuroimaging Mechanism of Scalp Acupuncture Combined with rTMS on Post-Stroke Cognitive Impairment based on the Resting-state Fraction Amplitude of Low Frequency Fluctuation
Dan XIONG ; Pan ZHU ; Haihua XIE ; Lin LU ; Hao LI ; Jie TAN ; Ning ZHAO
World Science and Technology-Modernization of Traditional Chinese Medicine 2024;26(9):2314-2320
Objective To explore the effect of scalp acupuncture combined with repetitive transcranial magnetic stimulation(rTMS)on global cognitive function in patients with post-stroke cognitive impairment(PSCI).To explore the resting-state neuroimaging mechanism of scalp acupuncture combined with rTMS in improving cognitive function in patients with PSCI using fraction amplitude of low frequency fluctuation(fALFF).Methods PSCI patients were randomly assigned to scalp acupuncture group and scalp acupuncture combined with rTMS group(the combined group).Both groups were given conventional rehabilitative training.The scalp acupuncture group selected the affected-side anterior oblique parietotemporal line(MS6).Low frequency(1Hz)rTMS over primary motor cortex(M1)of the unaffected-side in the combined group.The duration was once a day for 20 min,6 sessions one week,in total of 12 sessions for consecutive two weeks.Comparing the total and subtests of the Montreal Cognitive Assessment Scale(MoCA)before and after treatment.At the same time,the statistical method of Difference-in-Difference(DID)was used to analyze the trend of each observational index.The fALFF was used to detect the changes of spontaneous neurological activity in local brain areas and partial correlation analysis was performed with statistical differences cognitive behavioral indicators and significant fALFF values.Results A total of 47 subjects entered the final statistical analyses,including 25 subjects in the scalp acupuncture group and 22 subjects in the combined group.Compared with scalp acupuncture group,there were no significant differences in the global cognitive function in the combined group(P=0.914>0.05).However,the MoCA subscore-delayed memory task score was significantly improved in the combined group(P=0.035<0.05).At the same time,the trend analysis also showed that the improvement effect in the combined group was significantly better than those in the scalp acupuncture group(DID=0.80,t=2.20,P=0.033<0.05).After two weeks of intervention,compared with the baseline fALFF value,the increase of left precuneus,right cerebelum,left fusiform gyrus,left superior parietal gyrus in the combined group were significantly decreased than those of scalp acupuncture group.(GRF corrected,voxel P<0.01,cluster P<0.05).The results of partial correlation analysis showed that the fALFF difference of left fusiform gyrus was positively correlated with the difference of subscore-delayed memory in combined group(r=0.719,P<0.05).Other correlation analyses were not statistically significant(P>0.05).Conclusion Scalp acupuncture combined with rTMS intervention have definite efficacy in delayed memory.The underpinning neuroimaging mechanism may be related to local neurological spontaneous activity in brain regions involving in cognitive processing such as left fusiform gyrus.
6.TRPV1 participates in the protective effect of propolis on colonic tissue of ulcerative colitis.
Jing WANG ; Zhen QIAN ; Taiyu LU ; Ruirui LI ; Hui LI ; Hao ZHANG ; Li SUN ; Haihua WANG
Journal of Central South University(Medical Sciences) 2023;48(2):182-190
OBJECTIVES:
Ulcerative colitis (UC) is a type of inflammatory bowel disease (IBD) mainly characterized by inflammation, ulceration and erosion of colonic mucosa and submucosa. Transient receptor potential vanilloid 1 (TRPV1) is an important mediator of visceral pain and inflammatory bowel disease. This study aims to investigate the protective effect of water soluble propolis (WSP) on UC colon inflammatory tissue and the role of TRPV1.
METHODS:
Male SD rats were randomly divided into 6 groups (n=8): a normal control (NC) group, an ulcerative colitis model (UC) group, a low-WSP (L-WSP) group, a medium-WSP (M-WSP) group, a high-WSP (H-WSP) group, and a salazosulfapyridine (SASP) group. The rats in the NC group drank water freely, and the other groups drank 4% dextran sulfate sodium (DSS) solution freely for 7 d to replicate the ulcerative colitis model. Based on the successful replication of the UC, the L-WSP, M-WSP, and H-WSP groups were given 50, 100, and 200 mg/kg of water-soluble propolis by gavage for 7 d, and the SASP group was given 100 mg/kg of sulfasalazine by gavage for 7 d. The body weight of rats in each group was measured at the same time every day, the fecal traits and occult blood were observed to record the disease activity index (DAI). After intragastric administration, the animals were sacrificed after fasted 24 h. Serum and colonic tissue were collected, and the changes of MDA, IL-6 and TNF-α were detected. The pathological changes of colon tissues were observed by HE staining, and the expression of TRPV1 in colon tissues was observed by Western blotting, immunohistochemistry, and immunofluorescence.
RESULTS:
The animals in each group that drank DSS freely showed symptoms such as weight loss, decreased appetite, depressed state, and hematochezia, indicating that the model was successfully established. Compared with the NC group, DAI scores of other groups were increased (all P<0.05). MDA, IL-6, TNF-α in serum and colon tissues of the UC group were increased compared with the NC group (all P<0.01), and they were decreased after WSP and SASP treatment (all P<0.01). The results of showed that the colon tissue structure was obviously broken and inflammatory infiltration in the UC group, while the H-WSP group and the SASP group significantly improved the colon tissue and alleviated inflammatory infiltration. The expression of TRPV1 in colon tissues in the UC group was increased compared with the NC group (all P<0.01), and it was decreased after WSP and SASP treatment.
CONCLUSIONS
WSP can alleviate the inflammatory state of ulcerative colitis induced by DSS, which might be related to the inhibition of inflammatory factors release, and down-regulation or desensitization of TRPV1.
Animals
;
Male
;
Rats
;
Antineoplastic Agents/therapeutic use*
;
Colitis, Ulcerative/chemically induced*
;
Colon/pathology*
;
Disease Models, Animal
;
Interleukin-6/pharmacology*
;
Propolis/therapeutic use*
;
Rats, Sprague-Dawley
;
Sulfasalazine/therapeutic use*
;
TRPV Cation Channels
;
Tumor Necrosis Factor-alpha/pharmacology*
7.In situ vessel anastomosis in treatment of severe degloving injury of hand: clinical efficacy and long-term follow-up
Shuming CAO ; Bo ZHANG ; Lu YIN ; Ketong GONG ; Wengbo YANG ; Haihua ZHAN
Chinese Journal of Microsurgery 2023;46(4):419-423
Objective:To explore the feasibility and clinical efficacy of in situ vessels anastomosis in treatment of severe degloving injury of hand, and long-term follow-up observation of the clinical efficacy.Methods:From January 2016 to December 2018, 11 patients of severe degloving avulsion injuries were treated in the Department of Hand and Microsurgery of Tianjin Hospital. Six patients had right hands injuried and 5 in left hands. The age of patients ranged from 16 to 51 years old, with an average age of 31.5 years old. All injuries accompanied with metacarpal or phalangeal fractures. In situ vascular anastomosis was applied to all patients in the replantation surgery. Long-time follow-ups and observation of postoperative appearance, sensory and hand function recovery were conducted through visits of outpatient clinic.Results:All operations were successful. All degloving tissues survived after replantation in 6 patients. Partial palm skin necrosis and thumb nail bed necrosis occurred in 1 patient, and treated with skin grafting and abdominal flap transfer. Thumb nail bed necrosis occurred in 2 patient, in which 1 patient repaired by abdominal pedicled flap transfer, and the other patient repair by local flap transfer. One patient had dorsal hand skin necrosis, and repaired with free anterolateral thigh flap(ALTF). One patient had palm hand skin necrosis, and repaired with free skin grafting. There were 1 patient had index and middle finger necrosis and 1 with little finger necrosis. And finger amputation was performed later. Mean follow-up period was 22 (15-36) months. According to the Evaluation Standard of Upper Limb Partial Functional of Hand Surgery of Chinese Medical Association, 6 patients were in excellent, 3 in good and 2 in fair. According to the standard of British Medical Research Council (BMRC), sensation recovered to S 4 in 5 patients, S 3 in 5 patients and S 2 in 1 patient. Conclusion:Using precise microsurgical techniques to directly anastomose in situ vessels in the treatment of severe hand degloving injuries can achieve satisfactory long-term recovery of hand function.
8.Effect of hyperbaric oxygen combined with Xingnaojing injection on 53 patients with delayed encephalopathy caused by acute carbon monoxide poisoning
Hui QIN ; Haihua WU ; Yanfei LU ; Yan HONG ; Pengjie DENG ; Yuanyuan ZHANG ; Guolin OUYANG
Chinese journal of nautical medicine and hyperbaric medicine 2022;29(2):198-202,229
Objective:To observe the effects of hyperbaric oxygen combined with Xingnaojing injection on serum nerve injury,serum factors,and cognitive function in patients with acute carbon monoxide poisoning delayed encephalopathy(ACMPDE).Methods:A total of 106 cases with ACMPDE who were admitted to the First People’s Hospital of Nanning from July 2018 to July 2020 were selected as the research subjects and divided into control group and research group according to the random number table method,with 53 cases in each group. The control group was given hyperbaric oxygen treatment for 20 days,while the research group was given Xingnaojing injection on the basis of the treatment in the control group for 20 days. The levels of hypersensitive C-reactive protein(hs-CRP),interleukin-6(IL-6),interleukin-10(IL-10),tumor necrosis factor - α(TNF - α),neuron specific enolase(NSE),5-hydroxytryptamine(5-HT),angiopoietin-2(Ang-2),inducible nitric oxide synthase(iNOS),malondialdehyde(MDA),superoxide dismutase(SOD)in the two groups were detected before and after treatment. The Montreal Cognitive Assessment Scale(MoCA),Mini-Mental State Examination(MMSE)and 36-Item Short Form Health Survey(SF-36)were used to evaluate the cognitive function and quality of life of the two groups of patients and to compare the clinical efficacy of the two groups after treatment.Results:The levels of hs CRP,TNF - α and IL-6 in the research group were lower than those in the control group( P < 0.01),the level of IL-10 in the research group was higher than that in the control group( P < 0.01),the level of 5-HT in the research group was higher than that in the control group( P < 0.01),the levels of NSE,Ang-2,and iNOS in the research group were lower than those in the control group( P < 0.01),the level of SOD in the research group was higher than that in the control group( P < 0.01),and the level of MDA in the research group was lower than that in the control group( P < 0.01).The MMSE,MOCA and SF-36 scores of the research group were higher than those of the control group( P < 0.01). After treatment,the total effective rate of the research group(98.11%)was significantly higher than that of the control group(84.91%),and the difference was statistically significant(χ 2 = 4.371, P = 0.037). Conclusion:Hyperbaric oxygen combined with Xingnaojing injection can improve the level of serum factors in patients with ACMPDE,inhibit inflammatory response,alleviate nerve injury,reduce oxidative stress response,and improve the cognitive function and the quality of life of patients,which is worthy of clinical application.
9.Effect of hyperbaric oxygen combined with Xingnaojing injection on 53 patients with delayed encephalopathy caused by acute carbon monoxide poisoning
Hui QIN ; Haihua WU ; Yanfei LU ; Yan HONG ; Pengjie DENG ; Yuanyuan ZHANG ; Guolin OUYANG
Chinese journal of nautical medicine and hyperbaric medicine 2022;29(2):198-202,229
Objective:To observe the effects of hyperbaric oxygen combined with Xingnaojing injection on serum nerve injury,serum factors,and cognitive function in patients with acute carbon monoxide poisoning delayed encephalopathy(ACMPDE).Methods:A total of 106 cases with ACMPDE who were admitted to the First People’s Hospital of Nanning from July 2018 to July 2020 were selected as the research subjects and divided into control group and research group according to the random number table method,with 53 cases in each group. The control group was given hyperbaric oxygen treatment for 20 days,while the research group was given Xingnaojing injection on the basis of the treatment in the control group for 20 days. The levels of hypersensitive C-reactive protein(hs-CRP),interleukin-6(IL-6),interleukin-10(IL-10),tumor necrosis factor - α(TNF - α),neuron specific enolase(NSE),5-hydroxytryptamine(5-HT),angiopoietin-2(Ang-2),inducible nitric oxide synthase(iNOS),malondialdehyde(MDA),superoxide dismutase(SOD)in the two groups were detected before and after treatment. The Montreal Cognitive Assessment Scale(MoCA),Mini-Mental State Examination(MMSE)and 36-Item Short Form Health Survey(SF-36)were used to evaluate the cognitive function and quality of life of the two groups of patients and to compare the clinical efficacy of the two groups after treatment.Results:The levels of hs CRP,TNF - α and IL-6 in the research group were lower than those in the control group( P < 0.01),the level of IL-10 in the research group was higher than that in the control group( P < 0.01),the level of 5-HT in the research group was higher than that in the control group( P < 0.01),the levels of NSE,Ang-2,and iNOS in the research group were lower than those in the control group( P < 0.01),the level of SOD in the research group was higher than that in the control group( P < 0.01),and the level of MDA in the research group was lower than that in the control group( P < 0.01).The MMSE,MOCA and SF-36 scores of the research group were higher than those of the control group( P < 0.01). After treatment,the total effective rate of the research group(98.11%)was significantly higher than that of the control group(84.91%),and the difference was statistically significant(χ 2 = 4.371, P = 0.037). Conclusion:Hyperbaric oxygen combined with Xingnaojing injection can improve the level of serum factors in patients with ACMPDE,inhibit inflammatory response,alleviate nerve injury,reduce oxidative stress response,and improve the cognitive function and the quality of life of patients,which is worthy of clinical application.
10.Clinical and genetic analysis of an infant with aldosterone synthase deficiency.
Haihua YANG ; Qiong CHEN ; Lu ZHANG ; Yan CUI ; Haiyan WEI
Chinese Journal of Medical Genetics 2021;38(9):865-868
OBJECTIVE:
To analyze the clinical characteristics and genetic variants in a two-month-and-one-day male infant with aldosterone synthase deficiency.
METHODS:
Clinical data of the child was collected. Whole exome sequencing was carried out by next generation sequencing(NGS). Candidate variants were verified by Sanger sequencing.
RESULTS:
The infant had measured 54 cm (-2.1 SD) in length and 3.9 kg (-2.8 SD) in weight, and featured recurrent vomiting, poor feeding, apathetic appearance and failure to thrive. Blood electrolyte testing showed low sodium and increased potassium. Serum cortisol, adrenocorticotrophic hormone, 17-alpha-hydroxyl progesterone, androstenedione, and testosterone were all within the normal ranges. The plasma renin activity activity was increased, and plasma aldosterone level was low. NGS revealed that the infant has harbored compound heterozygous variants of the CYP11B2 gene, namely c.1334T>G(p.Phe445Cys) inherited from his father and c.1121G>A(p.Arg374Gln) inherited from his mother. Neither variant was reported previously, and both were predicted to be deleterious for the function of the protein product.
CONCLUSION
The compound heterozygous variants of c.1334T>G (p.Phe445Cys) and c.1121G>A (p.Arg374Gln) of the CYP11B2 gene probably underlay the disease in this patient.
Child
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Cytochrome P-450 CYP11B2/genetics*
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Genetic Testing
;
High-Throughput Nucleotide Sequencing
;
Humans
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Infant
;
Male
;
Mutation
;
Whole Exome Sequencing

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