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
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
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
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
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
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
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
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
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
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
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
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
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
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
BACKGROUND We have previously proved that treatment of thick/deep infantile hemangiomas (IHs) with a long-pulse Alexandrite laser was clinically effective and safe. This article aims to investigate the efficiency of l...BACKGROUND We have previously proved that treatment of thick/deep infantile hemangiomas (IHs) with a long-pulse Alexandrite laser was clinically effective and safe. This article aims to investigate the efficiency of long-pulse Alexandrite laser use in treating thick and high-risk IHs located in particular anatomic areas and provides some new data on this issue. CASE SUMMARY A two-month-old girl with a thick and high-risk IH covering most of the right labia majora was examined in this study. The infant received four treatment sessions at 4- to 6-wk intervals with a long-pulse Alexandrite laser with settings as follows: 3 ms pulse duration, 8 mm spot size, 45 to 50 J/cm2 fluences, and dynamic cooling device (DCD) spray duration of 90 ms with a delay of 80 ms. Following each of the four treatment sessions, the IH showed a remarkable reduction in thickness and size without any sign of relapse. Ten months after the last treatment, the IH had completely regressed without adverse effects. During the laser treatment, no severe side effects were observed;blistering occurred only immediately after treatment and then scabbed over the next day, gradually improving in the following days. CONCLUSION Long-pulse Alexandrite laser treatment may be considered one of the first-line noninvasive therapeutic options for the treatment of thick IH.展开更多
Infantile hemangioma is clinically classified as superficial, superficial and deep (mixed), and deep. Dermoscopy can be used for analyzing vascular structure and for classifying infantile hemangioma. Here, we focus on...Infantile hemangioma is clinically classified as superficial, superficial and deep (mixed), and deep. Dermoscopy can be used for analyzing vascular structure and for classifying infantile hemangioma. Here, we focus on vascular features of the superficial and deep type of infantile hemangioma and show the three characteristic dermoscopic forms, mostly reddish, diffuse reddish, and cerebriform reddish.展开更多
Infantile hemangioma(IH) is the most common benign tumor seen in infancy. This review provides up-to-date information on the pathophysiology, variations in clinical presentation, and natural history of IH, elaborating...Infantile hemangioma(IH) is the most common benign tumor seen in infancy. This review provides up-to-date information on the pathophysiology, variations in clinical presentation, and natural history of IH, elaborating on associated anomalies, such as PHACE(S) syndrome and LUMBAR syndrome. Because of the benign and self-limiting characteristics seen in more than 90% of cases of IH, a conservative approach is usually chosen. However, some circumstances, such as ulceration, vision loss, breathing difficulties, or potential disfigurement, will require treatment during the proliferative phase. For decades, treatment of IH has primarily consisted of corticosteroids or surgery. Since 2008, propranolol has become the treatment of first choice. In this article, we bring to light the crucial changes in the treatment of IH over the past years. To date, there is still a lack of data on the possible long-term effects of propranolol treatment in young infants. A theoretical probability of the central nervous system being affected(that is, impairment of short- and long-term memory, psychomotor function, sleep quality, and mood) has recently been suggested. This review highlights research topics concerning these long-term adverse effects. Finally, information is provided on the potential instruments to measure IH severity and activity in clinical trials and/or in clinical practice and the recently developed and first-validated IH-specific quality-of-life questionnaire.展开更多
Infantile hemangioma (IH) is a common tumor in infants. After the proliferative phase, hemangiomas regress, but sometimes leave scars. Propranolol is now the recommended first-line oral therapy for IH. To evaluate the...Infantile hemangioma (IH) is a common tumor in infants. After the proliferative phase, hemangiomas regress, but sometimes leave scars. Propranolol is now the recommended first-line oral therapy for IH. To evaluate the effectiveness of oral propranolol administration, we measured quantitative changes in an IH by digital camera and Computed Tomography (CT) or Magnetic Resonance Imaging (MRI). Although digital cameras are very simple, changes in color tones occur with time, lesions are evaluated in two dimensions, and changes in the thickness of the hemangioma are difficult to evaluate. Therefore, we investigated the feasibility of 3D photography to quantify volumes in IH during oral propranolol treatment.展开更多
AIM Infantile-onset inflammatory bowel disease(IO-IBD) with the onset of disease before 12 mo of age, is a different disease entity from childhood IBD. We aimed to describe the clinical features, outcome and role of m...AIM Infantile-onset inflammatory bowel disease(IO-IBD) with the onset of disease before 12 mo of age, is a different disease entity from childhood IBD. We aimed to describe the clinical features, outcome and role of mutation in interleukin-10(IL-10) and interleukin-10 receptors(IL-10R) in Asian children with IO-IBD. METHODS All cases of IO-IBD, defined as onset of disease before 12 mo of age, seen at University Malaya Medical Center, Malaysia were reviewed. We performed mutational analysis for IL10 and IL10 R genes in patients with presenting clinical features of Crohn's disease(CD).RESULTS Six [13%; CD = 3, ulcerative colitis(UC) = 2, IBDunclassified(IBD-U) = 1] of the 48 children(CD = 25; UC = 23) with IBD have IO-IBD. At final review [median(range) duration of follow-up: 6.5(3.0-20) years], three patients were in remission without immunosuppression [one each for post-colostomy(IBD-U), after standard immunosuppression(CD), and after total colectomy(UC)]. Three patients were on immunosuppression:one(UC) was in remission while two(both CD) had persistent disease. As compared with later-onset disease, IO-IBD were more likely to present with bloody diarrhea(100% vs 55%, P = 0.039) but were similar in terms of an associated autoimmune liver disease(0% vs 19%, P = 0.31), requiring biologics therapy(50% vs 36%, P = 0.40), surgery(50% vs 29%, P = 0.27), or achieving remission(50% vs 64%, P = 0.40). No mutations in either IL10 or IL10 R in the three patients with CD and the only patient with IBD-U were identified.CONCLUSION The clinical features of IO-IBD in this Asian cohort of children who were negative for IL-10 or IL-10 R mutations were variable. As compared to childhood IBD with onset of disease after 12 mo of age, IO-IBD achieved remission at a similar rate.展开更多
Aim: To observe the therapeutic effect of acupoint catgut implantation therapy in the treatment of infantile primary epilepsy. Methods: A total of 63 cases of primary epilepsy children were randomly divided into medic...Aim: To observe the therapeutic effect of acupoint catgut implantation therapy in the treatment of infantile primary epilepsy. Methods: A total of 63 cases of primary epilepsy children were randomly divided into medication group (n=32) and acupoint catgut implantation group (n=31) and treated respectively with Sodium Valproate 5-10 mg/kg/d and catgut implantation at Changqiang (GV 1), Jiuwei (CV 15), bilateral Xinshu (BL 15) and bilateral Zusanli (ST 36). Results: Following 60 days of treatment, the abnormal changes of electroencephlogram (EEG), the seizure frequency and duration and clinical symptoms were improved apparently in comparison with those of pre treatment, but no significant differences were found between the two groups (P>0.05). There was a significant difference between two groups in the cure rate of the short term effect (P<0.05), with the therapeutic effect of the treatment group being superior to that of medication group. Conclusion: Acupoint catgut implantation therapy has a good therapeutic effect in the treatment of primary infantile epilepsy.展开更多
文摘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.
文摘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.
基金supported by the National Nature Science Foundation of China (grant no. 82272288)。
文摘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.
基金supported by Key Project of Social Development in Science and Technology Bureau of Fujian Province,China(No.2011Y0042)
文摘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.
基金Supported by the Natural Science Foundation of China(No.81370913)
文摘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.
文摘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.
文摘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.
基金Supported by National Clinical Key Specialty Construction Project(Pediatric Digestive Disease)No.[2011]873
文摘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.
文摘 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. ……
文摘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,
文摘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.
文摘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.
基金supported by Science and Technology Foundation of shaanxi Province(2005K13-G6)
文摘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.
文摘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.
基金Supported by Zhejiang Provincial Natural Science Foundation of China,No.LQ16H110001 and No.LQ13C100001Wenzhou Science and Technology Bureau Foundation,No.2017Y0750Medicine and Health Science and Technology Projects of Zhejiang Province of China,No.2013KYA128
文摘BACKGROUND We have previously proved that treatment of thick/deep infantile hemangiomas (IHs) with a long-pulse Alexandrite laser was clinically effective and safe. This article aims to investigate the efficiency of long-pulse Alexandrite laser use in treating thick and high-risk IHs located in particular anatomic areas and provides some new data on this issue. CASE SUMMARY A two-month-old girl with a thick and high-risk IH covering most of the right labia majora was examined in this study. The infant received four treatment sessions at 4- to 6-wk intervals with a long-pulse Alexandrite laser with settings as follows: 3 ms pulse duration, 8 mm spot size, 45 to 50 J/cm2 fluences, and dynamic cooling device (DCD) spray duration of 90 ms with a delay of 80 ms. Following each of the four treatment sessions, the IH showed a remarkable reduction in thickness and size without any sign of relapse. Ten months after the last treatment, the IH had completely regressed without adverse effects. During the laser treatment, no severe side effects were observed;blistering occurred only immediately after treatment and then scabbed over the next day, gradually improving in the following days. CONCLUSION Long-pulse Alexandrite laser treatment may be considered one of the first-line noninvasive therapeutic options for the treatment of thick IH.
文摘Infantile hemangioma is clinically classified as superficial, superficial and deep (mixed), and deep. Dermoscopy can be used for analyzing vascular structure and for classifying infantile hemangioma. Here, we focus on vascular features of the superficial and deep type of infantile hemangioma and show the three characteristic dermoscopic forms, mostly reddish, diffuse reddish, and cerebriform reddish.
文摘Infantile hemangioma(IH) is the most common benign tumor seen in infancy. This review provides up-to-date information on the pathophysiology, variations in clinical presentation, and natural history of IH, elaborating on associated anomalies, such as PHACE(S) syndrome and LUMBAR syndrome. Because of the benign and self-limiting characteristics seen in more than 90% of cases of IH, a conservative approach is usually chosen. However, some circumstances, such as ulceration, vision loss, breathing difficulties, or potential disfigurement, will require treatment during the proliferative phase. For decades, treatment of IH has primarily consisted of corticosteroids or surgery. Since 2008, propranolol has become the treatment of first choice. In this article, we bring to light the crucial changes in the treatment of IH over the past years. To date, there is still a lack of data on the possible long-term effects of propranolol treatment in young infants. A theoretical probability of the central nervous system being affected(that is, impairment of short- and long-term memory, psychomotor function, sleep quality, and mood) has recently been suggested. This review highlights research topics concerning these long-term adverse effects. Finally, information is provided on the potential instruments to measure IH severity and activity in clinical trials and/or in clinical practice and the recently developed and first-validated IH-specific quality-of-life questionnaire.
文摘Infantile hemangioma (IH) is a common tumor in infants. After the proliferative phase, hemangiomas regress, but sometimes leave scars. Propranolol is now the recommended first-line oral therapy for IH. To evaluate the effectiveness of oral propranolol administration, we measured quantitative changes in an IH by digital camera and Computed Tomography (CT) or Magnetic Resonance Imaging (MRI). Although digital cameras are very simple, changes in color tones occur with time, lesions are evaluated in two dimensions, and changes in the thickness of the hemangioma are difficult to evaluate. Therefore, we investigated the feasibility of 3D photography to quantify volumes in IH during oral propranolol treatment.
基金Supported by a research grant from Ministry of Higher Education,Malaysia(UM.C/625/HIR/MOHE/CHAN/13/1)Hong Kong Society for the Relief of Disabled Children(to Chan KW and Lau YL)
文摘AIM Infantile-onset inflammatory bowel disease(IO-IBD) with the onset of disease before 12 mo of age, is a different disease entity from childhood IBD. We aimed to describe the clinical features, outcome and role of mutation in interleukin-10(IL-10) and interleukin-10 receptors(IL-10R) in Asian children with IO-IBD. METHODS All cases of IO-IBD, defined as onset of disease before 12 mo of age, seen at University Malaya Medical Center, Malaysia were reviewed. We performed mutational analysis for IL10 and IL10 R genes in patients with presenting clinical features of Crohn's disease(CD).RESULTS Six [13%; CD = 3, ulcerative colitis(UC) = 2, IBDunclassified(IBD-U) = 1] of the 48 children(CD = 25; UC = 23) with IBD have IO-IBD. At final review [median(range) duration of follow-up: 6.5(3.0-20) years], three patients were in remission without immunosuppression [one each for post-colostomy(IBD-U), after standard immunosuppression(CD), and after total colectomy(UC)]. Three patients were on immunosuppression:one(UC) was in remission while two(both CD) had persistent disease. As compared with later-onset disease, IO-IBD were more likely to present with bloody diarrhea(100% vs 55%, P = 0.039) but were similar in terms of an associated autoimmune liver disease(0% vs 19%, P = 0.31), requiring biologics therapy(50% vs 36%, P = 0.40), surgery(50% vs 29%, P = 0.27), or achieving remission(50% vs 64%, P = 0.40). No mutations in either IL10 or IL10 R in the three patients with CD and the only patient with IBD-U were identified.CONCLUSION The clinical features of IO-IBD in this Asian cohort of children who were negative for IL-10 or IL-10 R mutations were variable. As compared to childhood IBD with onset of disease after 12 mo of age, IO-IBD achieved remission at a similar rate.
文摘Aim: To observe the therapeutic effect of acupoint catgut implantation therapy in the treatment of infantile primary epilepsy. Methods: A total of 63 cases of primary epilepsy children were randomly divided into medication group (n=32) and acupoint catgut implantation group (n=31) and treated respectively with Sodium Valproate 5-10 mg/kg/d and catgut implantation at Changqiang (GV 1), Jiuwei (CV 15), bilateral Xinshu (BL 15) and bilateral Zusanli (ST 36). Results: Following 60 days of treatment, the abnormal changes of electroencephlogram (EEG), the seizure frequency and duration and clinical symptoms were improved apparently in comparison with those of pre treatment, but no significant differences were found between the two groups (P>0.05). There was a significant difference between two groups in the cure rate of the short term effect (P<0.05), with the therapeutic effect of the treatment group being superior to that of medication group. Conclusion: Acupoint catgut implantation therapy has a good therapeutic effect in the treatment of primary infantile epilepsy.