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IL13RA2 promotes progression of infantile haemangioma by activating glycolysis and the Wnt/β-catenin signaling pathway
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作者 ZIYONG LIU TAO MA +2 位作者 JINFANG LI WEI REN ZHIXIN ZHANG 《Oncology Research》 SCIE 2024年第9期1453-1465,共13页
Background:Interleukin 13 receptor subunit alpha 2(IL13RA2)plays an essential role in the progression of many cancers.However,the role of IL13RA2 in infantile haemangioma(IH)is still unknown.Materials and Methods:IL13... Background:Interleukin 13 receptor subunit alpha 2(IL13RA2)plays an essential role in the progression of many cancers.However,the role of IL13RA2 in infantile haemangioma(IH)is still unknown.Materials and Methods:IL13RA2 expression in IH tissues was analyzed using western blot,qRT-PCR,and immunofluorescence.The role of IL13RA2 in haemangioma-derived endothelial cells(HemECs)was determined following knockdown or overexpression of IL13RA2 using CCK-8,colony formation,apoptosis,wound healing,tubule formation,Transwell,and western blot.Results:IL13RA2 expression was upregulated in IH tissues.IL13RA2 overexpression promoted proliferation,migration,and invasion of HemECs and induced glycolysis,which was confirmed with a glycolysis inhibitor.Specifically,IL13RA2 interacted withβ-catenin and activated the Wnt/β-catenin pathway in HemECs,which were involved in the above-mentioned effects of IL13RA2.Conclusions:These findings revealed that targeting IL13RA2 is a potential therapeutic approach for IH. 展开更多
关键词 infantile haemangioma IL13RA2 GLYCOLYSIS Wnt/β-catenin pathway
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Response to magnesium sulfate and adrenocorticotropic hormone combination therapy for infantile spasms with failed first-line treatments
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作者 Qiuhong Wang Wen He +4 位作者 Yangyang Wang Liying Liu Mengna Zhang Xiaoyan Yang Liping Zou 《Pediatric Investigation》 CAS CSCD 2023年第1期29-35,共7页
Importance:Infantile spasm(IS)is a kind of refractory epilepsy.The first-line treatments for IS are adrenocorticotropic hormone(ACTH),oral corticosteroids,and vigabatrin.Objective:This study aimed to evaluate the effi... Importance:Infantile spasm(IS)is a kind of refractory epilepsy.The first-line treatments for IS are adrenocorticotropic hormone(ACTH),oral corticosteroids,and vigabatrin.Objective:This study aimed to evaluate the efficacy of magnesium sulfate and ACTH(MgSO_(4)+ACTH)combination therapy in patients with IS who failed first-line treatments.Methods:In this retrospective study,the clinical data of patients with IS who failed first-line treatments were collected in the Chinese PLA General Hospital.Patients received MgSO_(4)+ACTH combination therapy after first-line treatments failed.The course of treatments was 2 weeks.The therapeutic dose of ACTH and MgSO_(4)was 2.5 U·kg^(-1)·d^(-1)and 0.25 g·kg^(-1)·d^(-1),respectively.Results:A total of 229 patients with IS who failed the first-line treatments were collected.At the end of the MgSO_(4)+ACTH combination treatment,the seizure-free rate was 48.5%(111/229),and the resolution of hypsarrhythmia on electroencephalogram(EEG)was 72.1%(165/229).About 21.4%(49/229)of patients showed side effects,including infectious diseases,hypokalemia,and diarrhea.Interpretation:For patients with IS who failed first-line treatments,in terms of the seizure-free rate and resolution of hypsarrhythmia on EEG,MgSO_(4)+ACTH combination therapy can be considered. 展开更多
关键词 infantile spasms Magnesium sulfate Adrenocorticotropic hormone TREATMENT EFFICACY
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Prenatal ultrasound diagnosis of congenital infantile fibrosarcoma and congenital hemangioma: Three case reports
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作者 Ru-Na Liang Jue Jiang +9 位作者 Jie Zhang Xi Liu Miao-Yan Ma Qian-Long Liu Li Ma Lei Zhou Yun Wang JuanWang Qi Zhou Shan-Shan Yu 《World Journal of Clinical Cases》 SCIE 2023年第30期7403-7412,共10页
BACKGROUND Congenital infantile fibrosarcoma(CIF)and congenital hemangioma(CH)have similarities on prenatal ultrasound and are rare.CASE SUMMARY We report 3 cases of fetuses with superficial hypervascular tumors,confi... BACKGROUND Congenital infantile fibrosarcoma(CIF)and congenital hemangioma(CH)have similarities on prenatal ultrasound and are rare.CASE SUMMARY We report 3 cases of fetuses with superficial hypervascular tumors,confirmed by postnatal pathology as CIF(1 case)and CH(2 cases,including 1 in a twin fetus).In Case 1,a mass with a rich blood supply in the fetal axilla was discovered by prenatal ultrasound at 28+0 wk of gestation.The postpartum pathological diagnosis was CIF,the mass was surgically removed,and the prognosis of the child was good.In Case 2,at 23+1 wk of gestation,a mass was discovered at the base of the fetus’s thigh on prenatal ultrasound.The postpartum pathological diagnosis was CH.After conservative treatment,the mass shrank significantly.Case 3 occurred in a twin fetus.At 30+0 wk of gestation,prenatal ultrasound revealed a bulging mass with a rich blood supply on the abdominal wall of one of the fetuses.Three weeks later,the affected fetus died,and the unaffected baby was successfully delivered by emergency cesarean section.The affected fetus was pathologically diagnosed with CH.CONCLUSION Prenatal ultrasound can provide accurate information,such as the location,size and blood supply of a surface mass in a fetus.We found similarities between CIF and CH in prenatal ultrasound findings.Although it is difficult to distinguish these conditions by prenatal ultrasound alone,for superficial hypervascular tumors that rapidly increase in size in a short period,close ultrasound monitoring of the fetus is required to quickly address possible adverse outcomes. 展开更多
关键词 Congenital infantile fibrosarcoma Congenital hemangiomas Prenatal ultrasound Fetal tumor Case report
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Intralesional corticosteroid injections for infantile hemangioma
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作者 Rui Chang Yajing Qiu Xiaoxi Lin 《Chinese Journal Of Plastic and Reconstructive Surgery》 2023年第2期80-85,共6页
Infantile hemangiomas(IHs) are the most common benign soft-tissue tumors in infancy;about 10%–15% of them may result in various complications that require active management. The current first-line treatment for IH is... Infantile hemangiomas(IHs) are the most common benign soft-tissue tumors in infancy;about 10%–15% of them may result in various complications that require active management. The current first-line treatment for IH is oral propranolol;however, some studies recommend intralesional corticosteroid injections for small, limited, deep, or prominent tumors because of concern regarding serious systemic complications related to propranolol. This review summarizes and analyzes the current clinical studies on corticosteroid injections in IHs, discusses treatment norms, and explores future research directions. 展开更多
关键词 infantile hemangioma Intralesional injections CORTICOSTEROIDS Clinical norms BLEOMYCIN PROPRANOLOL LAUROMACROGOL BEVACIZUMAB
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Genetic polymorphisms of MC2R gene associated with responsiveness to adrenocorticotropic hormone therapy in infantile spasms 被引量:5
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作者 LIU Zhan-li HE Bing +2 位作者 FANG Fang TANG Cai-yun ZOU Li-ping 《Chinese Medical Journal》 SCIE CAS CSCD 2008年第17期1627-1632,共6页
Background Infantile spasms is a severe epileptic encephalopathy, which is refractory to conventional antiepileptic drugs. Adrenocorticotropic hormone (ACTH) has been the major therapy for infantile spasms; however,... Background Infantile spasms is a severe epileptic encephalopathy, which is refractory to conventional antiepileptic drugs. Adrenocorticotropic hormone (ACTH) has been the major therapy for infantile spasms; however, ACTH therapy is ineffective for some patients. The variations in the receptor genes can contribute to antiepileptic drug resistance. This study was to elucidate the possible associations between the variations of the MC2R gene and ACTH responsiveness in patients with infantile spasms. Methods We screened for variations in the promoter and coding region of the MC2R gene in 91 Chinese patients with infantile spasms and 94 controls, using PCR and a direct sequencing method. The frequencies of the genotypes, alleles and reconstructed haplotypes were analyzed in the cases and controls. The association between ACTH responsiveness and genetic variations of the MC2R gene was also assessed. Results Four single nucleotide polymorphisms (SNPs) were identified in the MC2R promoter, one of which was a novel specimen at position-2 from the transcription start site ATT, -2T〉C. Three SNPs (rs1893220, rs2186944 and -2T〉C) showed a significant difference between the cases and controls (P 〈0.05 for all). The frequency of the common TCCT haplotype carrying four-SNP major alleles was significantly lower in the cases (39%) than in the controls (60%) (P=-0.00003). The homozygous carriers of the TCCT haplotype had a much lower relative risk than the non-carriers (RR=O.42, 95%C/ 0.26-0.70, P=-0.0001). ACTH responsiveness was strongly associated with the TCCT haplotype (P=-0.000082). Compared with non-carriers of the TCCT haplotype, the homozygous and heterozygous carriers were more responsive to ACTH therapy (P=0.0002; P=-0.0003, respectively). Conclusions Our results indicated that the TCCT haplotype in the MC2R promoter is strongly associated with the responsiveness of the ACTH therapy performed on patients with infantile spasms. The polymorphisms of the MC2R promoter might be one important factor that influences the efficacy of ACTH therapy on infantile spasms. 展开更多
关键词 spasms infantile MC2R gene HAPLOTYPE genetic polymorphism association
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Clinical characteristics of two cohorts of infantile spasms: response to pyridoxine or topiramate monotherapy 被引量:5
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作者 Jiao Xue Ping Qian +4 位作者 Hui Li Ye Wu Hui Xiong Yue-Hua Zhang Zhi-Xian Yang 《World Journal of Pediatrics》 SCIE CAS CSCD 2018年第3期290-297,共8页
Background Infantile spasms (IS) was an epileptic disease with varied treatment widely among clinicians. Here, we aimed to compare and analyze the clinical characteristics of IS response to pyridoxine or topiramate mo... Background Infantile spasms (IS) was an epileptic disease with varied treatment widely among clinicians. Here, we aimed to compare and analyze the clinical characteristics of IS response to pyridoxine or topiramate monotherapy (TPM control IS). Methods The clinical manifestations, treatment processes and outcomes were analyzed in 11 pyridoxine responsive IS and 17 TPM-control IS. Results Of the 11 patients with pyridoxine responsive IS, nine were cryptogenic/idiopathic. Age of seizure onset was 5.36 ± 1.48 months. Spasms were controlled within a week in most of the patients. At the last follow-up, EEG returned to normal in 8. Psychomotor development was normal in 6, mild delay in 3, severe delay in 2. Of the 17 patients with TPM-control IS, 10 were cryptogenic/idiopathic. The age of seizure onset was 5.58 ± 2.09 months. All patients were controlled within a month. At the last follow-up, EEG was normal in 10. Psychomotor development was normal in 8, mild delay in 5, severe delay in 4. Genetic analysis did not show any meaningful results. Conclusions The clinical characteristics and disease courses of pyridoxine responsive IS and TPM-control IS were similar, which possibly clued for a same pathogenic mechanism. Pyridoxine should be tried first in all IS patients, even in sympto-matic cases. If patients were not responsive to pyridoxine, TPM could be tried. 展开更多
关键词 infantile spasms PYRIDOXINE TOPIRAMATE
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A multicenter retrospective cohort study of ketogenic diet therapy in 481 children with infantile spasms 被引量:7
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作者 Yuanzhen Ye Dan Sun +19 位作者 Hua Li Jianmin Zhong Rong Luo Baomin Li Dengna Zhu Dan Li Shaoping Huang Yuwu Jiang Nong Xiao Yucai Chen Yuqin Zhang Mei Yu Xiaoyun Shen Li Gao Guo Zheng Congmin Zhao Baoqiang Yuan Jianxiang Liao Jiong Qin CAAE KD group 《Acta Epileptologica》 2022年第1期42-49,共8页
Background:Ketogenic diet(KD)therapy is one of the main treatments for drug-resistant epilepsy.However,the KD therapy has been applied in only a small number of infantile spasm cases.In this large multicenter study,we... Background:Ketogenic diet(KD)therapy is one of the main treatments for drug-resistant epilepsy.However,the KD therapy has been applied in only a small number of infantile spasm cases.In this large multicenter study,we investigated the efficacy of KD therapy in the treatment of infantile spasms.Methods:In this retrospective,multicenter cohort study,clinical data from main epilepsy centers were analyzed.Patients were classified into different groups according to age,type of drug and whether glucocorticoid was used before initiation of KD.Results:From October 2014 to March 2020,481 patients(308 males and 173 females)with infantile spasms were treated with the KD therapy.The age of the patients ranged from 2 months to 20 years,with a mean age of 1 year and 10 months.The number of anti-seizure medications(ASMs)used before KD initiation ranged 0-6,with a median of 3.In different time from initiation(1,3,6,and 12 months),the rates of seizure freedom after KD were 6.9,11.6;16.0 and 16.8%,respectively(x^(2)=27.1772,P<0.0001).There was a significant difference in the rate of seizure freedom between 3 months and 1 month(x^(2)=6.5498,P=0.0105)groups,and 6 months and 3 months(x^(2)=3.8478,P=0.0498)groups,but not between 12 months and 6 months(x^(2)=0.1212,P=0.7278)groups.The rates of effectiveness were 44.7;62.8,49.1 and 32.0%(x^(2)=93.2674,P<0.0001),respectively.The retention rates were 94.0,82.5,55.7 and 33.1%(x^(2)=483.7551,P<0.0001),correspondingly.The rate of effectiveness and the retention rate of KD were significantly different among the 1,3,6 and 12 months.KD treatment was the first choice in 25 patients(5.2%),55 patients(11.4%)started KD after the failure of the first ASM,158 patients(32.8%)started KD after the failure of the second ASM,157 patients(32.6%)started KD after the failure of the third drug,and 86 patients(17.9%)started KD after the failure of the fourth and more.The KD effect was not related to the number of ASMs used before KD startup(P>0.05).Two hundred and eighteen patients(45.3%)failed to respond to corticotropin or glucocorticoid before initiation.There was no significant difference in the effectiveness rate at different time points between the group of KD therapy after glucocorticoid failure and the group after non-hormone failure (x^(2)=0.8613,P=0.8348).The rate of adverse events of KD in 1,3,6,and 12 months after KD initiation were 22.3,21.7,16.8 and 6.9%,respectively.The adverse events mainly occurred during the first 3 months of KD,and the main adverse events were gastrointestinal disturbance and constipation.Conclusions:The efficacy of the KD treatment for infantile spasms was not affected by age,medication,and glucocorticoid use before initiation.KD is one of the effective treatments for infantile spasms. 展开更多
关键词 EPILEPSY infantile spasms Ketogenic diet Adverse events Effectiveness rate West syndrome Multicenter study RETROSPECTIVE COHORT
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Integration of multiscale entropy and BASED scale of electroencephalography after adrenocorticotropic hormone therapy predict relapse of infantile spasms 被引量:1
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作者 Lin Wan Chu-Ting Zhang +8 位作者 Gang Zhu Jian Chen Xiu-Yu Shi Jing Wang Li-Ping Zou Bo Zhang Wen-Bin Shi Chien-Hung Yeh Guang Yang 《World Journal of Pediatrics》 SCIE CAS CSCD 2022年第11期761-770,共10页
Background Even though adrenocorticotropic hormone(ACTH)demonstrated powerful efficacy in the initially successful treatment of infantile spasms(IS),nearly half of patients have experienced a relapse.We sought to inve... Background Even though adrenocorticotropic hormone(ACTH)demonstrated powerful efficacy in the initially successful treatment of infantile spasms(IS),nearly half of patients have experienced a relapse.We sought to investigate whether features of electroencephalogram(EEG)predict relapse in those IS patients without structural brain abnormalities.Methods We retrospectively reviewed data from children with IS who achieved initial response after ACTH treatment,along with EEG recorded within the last two days of treatment.The recurrence of epileptic spasms following treatment was tracked for 12 months.Subjects were categorized as either non-relapse or relapse groups.General clinical and EEG recordings were collected,burden of amplitudes and epileptiform discharges(BASED)score and multiscale entropy(MSE)were carefully explored for cross-group comparisons.Results Forty-one patients were enrolled in the study,of which 26(63.4%)experienced a relapse.The BASED score was significantly higher in the relapse group.MSE in the non-relapse group was significantly lower than the relapse group in theγband but higher in the lower frequency range(δ,θ,α).Sensitivity and specificity were 85.71%and 92.31%,respectively,when combining MSE in theδ/γfrequency of the occipital region,plus BASED score were used to distinguish relapse from non-relapse groups.Conclusions BASED score and MSE of EEG after ACTH treatment could be used to predict relapse for IS patients without brain structural abnormalities.Patients with BASED score≥3,MSE increased in higher frequency,and decreased in lower frequency had a high risk of relapse. 展开更多
关键词 Burden of amplitudes and epileptiform discharges score infantile spasms Multiscale entropy Prediction RELAPSE
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Early surgical intervention for structural infantile spasms in two patients under 6 months old:a case report 被引量:1
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作者 Haiyan Yang Zhiquan Yang +4 位作者 Jing Peng Yehong Huang Zhuanyi Yang Fei Yin Liwen Wu 《Acta Epileptologica》 2020年第1期145-150,共6页
Background:Infantile spasms(IS)are the most common childhood epileptic encephalopathy.Focal cortical dysplasia(FCD)and gray matter heterotopias(GH)are common structural causes of IS.The recommended first-line treatmen... Background:Infantile spasms(IS)are the most common childhood epileptic encephalopathy.Focal cortical dysplasia(FCD)and gray matter heterotopias(GH)are common structural causes of IS.The recommended first-line treatment for IS patients with structural causes is surgical intervention,according to the International League Against Epilepsy(ILAE)commission guidelines.However,there is currently no consensus on appropriate timings of surgery.Case presentations:Two structural IS cases are presented here:one was caused by FCD,and the other by GH.Both patients exhibited recurrent seizures at the age of 2 months,had poor responses to various antiepileptic drugs(AEDs)and displayed severe mental and motor developmental retardation.Seizure types included focal seizures and spasms.Brain magnetic resonance imaging showed abnormal gray signal or suspicious FCD lesions that coincided with the origin of the focal seizures.The patients underwent lesion resection before the age of 6 months.Follow-up observation showed that seizures of both patients were completely controlled several days after the surgery.All AEDs were gradually reduced in dosage within 1 year,and the mental and motor development almost returned to normal.Conclusion:Early resection of lesions in structural IS patients has benefits of effectively controlling convulsions and improving developmental retardation.Infants at several months of age can well tolerate craniotomy,and their cognitive development is more likely to return to normal after early surgery. 展开更多
关键词 infantile spasms Focal cortical dysplasia Gray matter heterotopias Early lesion resection
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Effect of Topical Propranolol Gel on Plasma Renin,Angiotensin Ⅱ and Vascular Endothelial Growth Factor in Superficial Infantile Hemangiomas 被引量:3
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作者 唐玉娟 张再重 +6 位作者 陈少全 陈淑明 黎成金 陈剑伟 原博 夏印 王烈 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2015年第5期759-762,共4页
The effect of topical propranolol gel on the levels of plasma renin,angiotensin Ⅱ(ATⅡ) and vascular endothelial growth factor(VEGF) in superficial infantile hemangiomas(IHs) was investigated. Thirty-three cons... The effect of topical propranolol gel on the levels of plasma renin,angiotensin Ⅱ(ATⅡ) and vascular endothelial growth factor(VEGF) in superficial infantile hemangiomas(IHs) was investigated. Thirty-three consecutive children with superficial IHs were observed pre-treatment,1 and 3 months after application of topical propranolol gel for the levels of plasma renin,AT Ⅱand VEGF in Department of General Surgery of Dongfang Hospital from February 2013 to February 2014. The plasma results of IHs were compared with those of 30 healthy infants of the same age from out-patient department. The clinical efficiency of topical propranolol gel at 1st,and 3rd month after application was 45%,and 82% respectively. The levels of plasma renin,AT and VEGF in patients preⅡ-treatment were higher than those in healthy infants(565.86±49.66 vs. 18.19±3.56,3.20±0.39 vs 0.30±0.03,and 362.16±27.29 vs. 85.63±8.14,P〈0.05). The concentrations of VEGF and renin at 1st and 3rd month after treatment were decreased obviously as compared with those pre-treatment(271.51±18.59 vs. 362.16±27.29,and 405.18±42.52 vs. 565.86±49.66 P〈0.05; 240.80±19.89 vs. 362.16±27.29,and 325.90±35.78 vs. 565.86±49.66,P〈0.05,respectively),but the levels of plasma AT declined slightly Ⅱ(2.96±0.37 vs. 3.20±0.39,and 2.47±0.27 vs. 3.20±0.39,P〉0.05). It was indicated that the increased renin,AT Ⅱand VEGF might play a role in the onset or development of IHs. Propranolol gel may suppress the proliferation of IHs by reducing VEGF. 展开更多
关键词 superficial Renin Angiotensin infantile suppress renin children declined consecutive proliferating
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A case of 9p deletion syndrome with congenital infantile glaucoma,effective method of diagnosis,and treatment 被引量:1
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作者 Xu Jia Xu-Yang Liu Xuan-Chu Duan 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2017年第2期318-320,共3页
Dear Editor,I am Dr.Jia X from the Department of Ophthalmology,Second Xiangya Hospital,Central South University,Changsha,China.I write to present a rare case report of 9p deletion syndrome with congenital infantile gl... Dear Editor,I am Dr.Jia X from the Department of Ophthalmology,Second Xiangya Hospital,Central South University,Changsha,China.I write to present a rare case report of 9p deletion syndrome with congenital infantile glaucoma in an infant,accompanying with an effective method of both diagnosis and treatment. 展开更多
关键词 CASE A case of 9p deletion syndrome with congenital infantile glaucoma effective method of diagnosis and treatment IOP
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Essential infantile esotropia with inferior oblique hyperfunction:long term follow-up of 6 muscles approach
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作者 Adriano Magli Roberta Carelli +3 位作者 Elisabetta Chiariello Vecchio Francesca Esposito Luca Rombetto Paolo Esposito Veneruso 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2016年第12期1802-1807,共6页
AIM: To evaluate long term follow-up (10y) of 6 muscle surgical approach in essential infantile esotropia (EIE).METHODS: A 6 muscle approach to EIE was retrospectively evaluated in patients with inferior oblique... AIM: To evaluate long term follow-up (10y) of 6 muscle surgical approach in essential infantile esotropia (EIE).METHODS: A 6 muscle approach to EIE was retrospectively evaluated in patients with inferior oblique (IO) hyperfunction and lateral rectus (LR) pseudoparalysis, who underwent surgery at different ages. Different clinical characters were analyzed pre- and postoperatively, in patients who underwent a 6 muscles approach ≤4 years of age. All patients underwent a multiple muscles approach: bilateral medial recti (MR) recession (4-5 mm), bilateral LR resection (lower than 7 mm) and bilateral IO recession and anteroposition. Of 108 children with preoperative angle ≥+30 prism diopters (PD) and IO hyperfunction were selected from larger cohort of patients (n=213, 103 females and 110 males) after excluding patients with: angle variability, who underwent reoperation and with incomplete follow up. Preoperative assessment and complete orthoptic examination were performed. Follow-up was performed 3mo, 2, 5 and 10y after surgery. Statistical analysis was performes using SAS statistical software package (version 9.1, SAS Institute Inc., Cary, NC, USA).RESULTS: Ten years follow up data analysis showed the following percentage of orthotropic patients: (0 PD): 3mo, 22.2%; 2y, 16.7%; 5y, 25.0% and 10y, 27.8%. A slight, significant (P〈0.01), increase of 2y follow up residual deviation was found when compared to 3mo one. Stationary surgical results is reported during time, with a trend of mean residual deviation reduction (P=0.04).CONCLUSION: Our results confirm the reliability of multiple muscles surgical approach in the treatment of patients affected by EIE with OI hyperfunction. 展开更多
关键词 essential infantile esotropia surgical treatment FOLLOW-UP
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Bilateral papilledema caused by chronic infantile neurological cutaneous and articular syndrome in a child with a novel (p. D305N) mutation in NLRP3 gene: a case report 被引量:1
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作者 Li Li Huanfen Zhou +4 位作者 Wei Shi Xiaotun Ren Xiaohua Tan Lirong Tian Chunxia Peng 《Annals of Eye Science》 2021年第3期80-88,共9页
The rare disease of chronic infantile neurological cutaneous and articular(CINCA)syndrome,is caused by the over-secretion of interleukin(IL)-1βdue to a gain-of-function NLRP3 gene mutation in the autosomal chromosome... The rare disease of chronic infantile neurological cutaneous and articular(CINCA)syndrome,is caused by the over-secretion of interleukin(IL)-1βdue to a gain-of-function NLRP3 gene mutation in the autosomal chromosome which often involves in eyes.In this report,we studied a 9-year-old girl with CINCA.The eyes were also involved and presented bilateral papilledema.Genetic testing revealed that the symptoms were caused by a novel gene mutation site(c.913G>A,p.D305N)in conservative domain exon-3 of NLRP3 which is gain-function gene of CINCA.The patient had the characteristic facial features,frontal fossa and saddle nose,manifested the generalized urticaria-like skin rash at two weeks after birth,periodic fever 6 months after birth,sensorineural deafness at 7 years old,and bilateral papilledema,aseptic meningitis and knee arthropathy at 9 years old.White cell counts,C-reactive protein increased and intracranial pressure raised to 300 mmH2O.The meningeal thickening enhanced by gadolinium in magnetic resonance imaging(MRI).Based on clinical features and genetic test,the girl was diagnosed bilateral papilledema secondary to CINCA and administered prednisone and lowered intracranial pressure medicine to resolve symptoms.With 3-year follow-up,patient had no inflammatory flare-up with visual acuity improvement.The finding of novel genetic mutation site(p.D305N)in NLRP3 gene expanded genotype spectrum associated with CINCA.This case also expanded the cause spectrum of papilledema and it highlighted systemic disease history for patients with bilateral papilledema. 展开更多
关键词 PAPILLEDEMA chronic infantile neurological cutaneous and articular syndrome(CINCA syndrome) novel genetic mutation site IL-1 blockage agent
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Fecal microbiota transplantation induces remission of infantile allergic colitis through gut microbiota re-establishment 被引量:20
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作者 Sheng-Xuan Liu Yin-Hu Li +9 位作者 Wen-Kui Dai Xue-Song Li Chuang-Zhao Qiu Meng-Ling Ruan Biao Zou Chen Dong Yan-Hong Liu Jia-Yi He Zhi-Hua Huang Sai-Nan Shu 《World Journal of Gastroenterology》 SCIE CAS 2017年第48期8570-8581,共12页
AIM To investigate the impact of fecal microbiota transplantation(FMT) treatment on allergic colitis(AC) and gut microbiota(GM).METHODS We selected a total of 19 AC infants,who suffered from severe diarrhea/hematochez... AIM To investigate the impact of fecal microbiota transplantation(FMT) treatment on allergic colitis(AC) and gut microbiota(GM).METHODS We selected a total of 19 AC infants,who suffered from severe diarrhea/hematochezia,did not relieve completely after routine therapy or cannot adhere to the therapy,and were free from organ congenital malformations and other contraindications for FMT. Qualified donor-derived stools were collected and injected to the AC infants via a rectal tube. Clinical outcomes and follow-up observations were noted. Stools were collected from ten AC infants before and after FMT,and GM composition was assessed for infants and donors using 16 S r DNA sequencing analysis.RESULTS After FMT treatment,AC symptoms in 17 infants were relieved within 2 d,and no relapse was observed in the next 15 mo. Clinical improvement was also detected in the other two AC infants who were lost to followup. During follow-up,one AC infant suffered from mild eczema and recovered shortly after hormone therapy. Based on the 16 S r DNA analysis in ten AC infants,most of them(n = 6) had greater GM diversity after FMT. As a result,Proteobacteria decreased(n = 6) and Firmicutes increased(n = 10) in post-FMT AC infants. Moreover,Firmicutes accounted for the greatest proportion of GM in the patients. At the genus level,Bacteroides(n = 6),Escherichia(n = 8),and Lactobacillus(n = 4) were enriched in some AC infants after FMT treatment,but the relative abundances of Clostridium(n = 5),Veillonella(n = 7),Streptococcus(n = 6),and Klebsiella(n = 8) decreased dramatically.CONCLUSION FMT is a safe and effective method for treating pediatric patients with AC and restoring GM balance. 展开更多
关键词 Pediatric infantile ALLERGIC COLITIS Fecal MICROBIOTA TRANSPLANTATION Gut MICROBIOTA Immune reaction
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A Mutant Gene Found to Be the Pathogenic Origin of Infantile Cataract
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作者 (Zhao Baohua Guo Haiyan) 《Bulletin of the Chinese Academy of Sciences》 2002年第3期137-137,共1页
  According to a report in the June 24 issue of Nature Genetics, mutations in a gene named heat-shock transcription factor 4 (HSF4) have been discovered to be responsible for lamellar and Marner cataract. Experts be...   According to a report in the June 24 issue of Nature Genetics, mutations in a gene named heat-shock transcription factor 4 (HSF4) have been discovered to be responsible for lamellar and Marner cataract. Experts believe that this will open new horizons for revealing the pathogenic origin of congenital cataract. …… 展开更多
关键词 BE A Mutant Gene Found to Be the Pathogenic Origin of infantile Cataract HSF
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Distribution and pheotype changes of macrophage in infantile hemangioma
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作者 陈岩青 《外科研究与新技术》 2011年第4期271-272,共2页
Objective To observe distribution and phenotypc changes of macrophage in infantile hemangioma. Methods Forty - three infantile hemangioma samples were harvested from resection operation,Distribution and phenolype chan... Objective To observe distribution and phenotypc changes of macrophage in infantile hemangioma. Methods Forty - three infantile hemangioma samples were harvested from resection operation,Distribution and phenolype changes of macrophages labelled with CD68, 展开更多
关键词 Distribution and pheotype changes of macrophage in infantile hemangioma
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Cardiovascular drugs in the treatment of infantile hemangioma 被引量:4
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作者 Israel Fernandez-Pineda Regan Williams +1 位作者 Lucia Ortega-Laureano Ryan Jones 《World Journal of Cardiology》 CAS 2016年第1期74-80,共7页
Since the introduction of propranolol in the treatment of complicated infantile hemangiomas(IH) in 2008, other different beta-blockers, including timolol, acetabutolol, nadolol and atenolol, have been successfully use... Since the introduction of propranolol in the treatment of complicated infantile hemangiomas(IH) in 2008, other different beta-blockers, including timolol, acetabutolol, nadolol and atenolol, have been successfully used for the same purpose. Various hypotheses including vasoconstriction, inhibition of angiogenesis and the induction of apoptosis in proliferating endothelial cells have been advanced as the potential beta-blockerinduced effect on the accelerated IH involution, although the exact mechanism of action of beta-blockers remains unknown. This has generated an extraordinary interest in IH research and has led to the discovery of the role of the renin-angiotensin system(RAS) in the biology of IH, providing a plausible explanation for the beta-blocker induced effect on IH involution and the development of new potential indications for RAS drugs such as angiotensin-converting enzyme inhibitors and angiotensin-receptor blockers in the treatment of IH. This review is focused on the current use of cardiovascular drugs in the treatment of IH. 展开更多
关键词 infantile HEMANGIOMA BETA-BLOCKERS RENIN-ANGIOTENSIN system ANGIOGENESIS
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Topical Propranolol Hydrochloride Gel for Superficial Infantile Hemangiomas 被引量:2
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作者 王烈 夏印 +2 位作者 翟亚楠 黎成金 李毅清 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2012年第6期923-926,共4页
The clinical efficacy and safety of topical propranolol hydrochloride gel in the treatment of superficial infantile hemangiomas (IHs) were assessed. Fifty-one cases of IHs from Oct. 2010 to Sept. 2011 were subjected t... The clinical efficacy and safety of topical propranolol hydrochloride gel in the treatment of superficial infantile hemangiomas (IHs) were assessed. Fifty-one cases of IHs from Oct. 2010 to Sept. 2011 were subjected to the topical propranolol hydrochloride gel intervention in Fuzhou General Hospital of Nanjing Military Commands, China. Changes in size, texture, color, peak systolic velocity of the hemangiomas, resistance index and adverse effects were observed. The results were evaluated by using Achauer system, and responses of IHs to pranpronolol were considered scaleⅠ(poor) in 4 patients (17.24%), scaleⅡ(moderate) in 18 patients (24.14%), scale Ⅲ (good) in 22 patients (44.83%) and scale Ⅳ (excellent) in 7 patients (13.79%). The response of superficial hemangiomas was significantly better than other hemangiomas (P<0.05), and no differences in response were found among different primary sites (P>0.05). Our study indicates that topical application of 3% propranolol hydrochloride gel is effective and safe in treating IHs. 展开更多
关键词 PROPRANOLOL hydrochloride gel infantile hemangiomas
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Clinical observations on the treatment of infantile hemangiomas with topical imiquimod 5% cream 被引量:3
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作者 Zhengtuan Guo Guowei Li +6 位作者 Quan Xu Ya Gaox Peng Li Xiansheng Zhang Yitao Duan Xinkui Guo Baijun Zheng 《Journal of Nanjing Medical University》 2009年第3期177-182,共6页
Objective: To observe the efficacy and safety of topical imiquimod 5% cream in the treatment of uncomplicated infantile hemangiomas (IHs). Methods: A total of 68 IHs were treated with topical imiquimod 5% cream. A... Objective: To observe the efficacy and safety of topical imiquimod 5% cream in the treatment of uncomplicated infantile hemangiomas (IHs). Methods: A total of 68 IHs were treated with topical imiquimod 5% cream. Among them, 36 were superficial, 22 were mixed, and 10 were deep. The size of IHs ranged from 1.0 cm × 1.5 cm to an area of a whole forearm. All the hemangiomas were in a proliferative stage. Imiquimod was applied 3 times weekly in 44 patients and 5 times weekly in 24 patients for up to 36 weeks. Results: All superficial IHs improved, and 18 achieved complete clinical resolution, 10 had excellent improvement, 5 showed moderate improvements, and 3 patients displayed minimal improvement. Two mixed IHs showed excellent improvement, 3 showed moderate improvement and 5 manifested minimal improvements. The remaining 12 mixed IHs and all deep IHs did not respond to the therapy. The total incidence of local adverse events was 58.82%(40/68), which included erythema or edema, local itching, incrustation or peeling, erosion or ulceration, although most of these were mild to moderate reactions and did not affect the treatment. Scarring occurred in 2 mixed IHs. No systemic side effects developed. Conclusion: Imiquimod 5% cream may be a safe and effective alternative for the treatment of superficial IHs and some mixed IHs in which the superficial component predominates. An appropriate treatment duration for proliferative IHs treated with this therapy may be 24 weeks. Some local adverse events, such as crusting and erosion with possible scarfing potential may occur and should be addressed by prompt, but temporary, discontinuation of the imiquimod. Topical imiquimod 5% cream can be prudently used in the treatment of IHs larger than 5.0 cm × 5.0 cm in newborns and infants less than 6 months of age. To our knowledge, this is the largest IH group treated with imiquimod that has been reported in the literature to date. 展开更多
关键词 infantile hemangioma IMIQUIMOD TREATMENT
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Analysis of the therapeutic evolution in the management of airway infantile hemangioma 被引量:3
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作者 Grecia V Vivas-Colmenares Israel Fernandez-Pineda +3 位作者 Juan Carlos Lopez-Gutierrez Miguel Angel Fernandez-Hurtado Maria Antonia Garcia-Casillas Jose Antonio Matute de Cardenas 《World Journal of Clinical Pediatrics》 2016年第1期95-101,共7页
AIM: To analyze the evolution in the management of airway infantile hemangioma(AIH) and to report the results from 3 pediatric tertiary care institutions.METHODS: A retrospective study of patients with diagnosis of AI... AIM: To analyze the evolution in the management of airway infantile hemangioma(AIH) and to report the results from 3 pediatric tertiary care institutions.METHODS: A retrospective study of patients with diagnosis of AIH and treated in 3 pediatric tertiary care institutions from 1996 to 2014 was performed. RESULTS: Twenty-three patients with diagnosis of AIH were identified. Mean age at diagnosis was 6 mo(range, 1-27). Single therapy was indicated in 16 patients and 7 patients received combined therapy. Two therapeutic groups were identified: Group A included 14 patients who were treated with steroids, interferon, laser therapy and/or surgery; group B included 9 patients treated with oral propranolol. In group A, oral corticosteroids were used in 9 patients with a good response in 3 cases(no requiring other therapeutic option), the other patients required additional treatment options. Cushing syndrome was observed in 3 patients. One patient died of a fulminant sepsis. Open surgical excision and endoscopic therapy were performed in 11 patients(in 5 of them as a single treatment) with a response rateof 54.5%. Stridor persisted in 2 cases, and one patient died during the clinical course of bronchial aspiration. In group B, oral propranolol was used in 9 patients(in 8 of them as a single treatment) with a response rate of 100%, with an mean treatment duration of 7 mo(range, 5-10); complications were not observed. CONCLUSION: Our experience and the medical literature support the use of propranolol as a first line of treatment in AIH. 展开更多
关键词 infantile HEMANGIOMA PROPRANOLOL SURGERY AIRWAY Fibrobronchoscopy
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