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Clinicopathological and genetic findings of infantile nodular fasciitis

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Chinese Medical Journal 2021年第22期134卷 2768-2770页

作者： Yan Qiu Xue Hu Xin He Wen-Jing Zeng Hong-Ying Zhang Department of Pathology West China HospitalSichuan UniversityChengduSichuan 610041China

To the Editor:Nodular fasciitis(NF)has been described as a rapidly growing benign soft tissue tumor with fibroblas-tic/myofibroblastic proliferation.[1]It commonly involves the upper extremities of adults aged 20 to 40 years.[1]Due to its rapid growth rate,high cellularity,and brisk mitosis,these lesions are easily confused with soft tissue sarcomas in the diagnosis-making process.Recent findings indicated that recurrent gene rearrangement of ubiquitin-specific protease 6(USP6),located at 17p13.2,favors the clonally proliferative nature of NF.[1]USP6 rearrangements have been discovered in approximately 90%of NF cases and>65%of NFs harbor myosin heavy chain 9(MYH9)-USP6 fusions with a type I(exon 1–exon 1)or type II(exon 1–exon 2)pattern.[1,2]Thus,USP6 rearrangements have been adopted as a valuable diagnostic biomarker for distinguishing challenging cases from their histologic mimics.NF is frequently seen in adulthood but extremely rare in infants.Here,we evaluated the clinical,pathologi-cal,and genetic features of infantile NF to understand the tumorigenesis mechanism underlying this entity.

关键词： infantile fas diagnosis

Fecal microbiota transplantation induces remission of infantile allergic colitis through gut microbiota re-establishment

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World Journal of Gastroenterology 2017年第48期23卷 8570-8581页

作者： Sheng-Xuan Liu Yin-Hu Li 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 Department of Pediatrics Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030Hubei ProvinceChina Department of Microbial Research We Health Gene InstituteShenzhen 518000Guangdong ProvinceChina Department of Computer Science College of Science and EngineeringCity University of Hong KongHong KongChina

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.

关键词： Pediatric infantile allergic colitis Fecal microbiota transplantation Gut microbiota Immune reaction

Noteworthy effects of a long-pulse Alexandrite laser for treatment of high-risk infantile hemangioma: A case report and literature review

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World Journal of Clinical Cases 2019年第14期7卷 1876-1883页

作者： Wen-Ting Su Ji-Xin Xue You-Hui Ke Medical Cosmetology Department Wenzhou Hospital of Integrated Traditional Chinese and Western MedicineWenzhou Skin Disease and Plastic Surgery HospitalWenzhou 325000Zhejiang ProvinceChina Department of Hand and Plastic Surgery The Second Affiliated Hospital and Yuying Children’s Hospital of Wenzhou Medical UniversityWenzhou 325000Zhejiang ProvinceChina

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.

关键词： Alexandrite laser infantile hemangiomas Treatment Case report

Clinical characteristics of two cohorts of infantile spasms: response to pyridoxine or topiramate monotherapy

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World Journal of Pediatrics 2018年第3期14卷 290-297页

作者： Jiao Xue Ping Qian Hui Li Ye Wu Hui Xiong Yue-Hua Zhang Zhi-Xian Yang Department of Pediatrics Peking University First HospitalNo.1Xi'anmen StreetXicheng DistrictBeijing 100034China

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.

关键词： infantile spasms Pyridoxine Topiramate

Predictive factors for time to full enteral feeding after pyloromyotomy for infantile hypertrophic pyloric stenosis

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World Journal of Pediatric Surgery 2020年第1期3卷 12-17页

作者： David Eriksson Martin Salo Department of Clinical Sciences PediatricsLund UniversityLundSweden Department of Pediatric Surgery Skåne University HospitalLundSweden

Background The aim of the study was to evaluate how different parameters in the preoperative,perioperative,and postoperative period affect time to full enteral feeding(TFEF)in children undergoing pyloromyotomy.Methods A retrospective study of all children operated for infantile hypertrophic pyloric stenosis between 2001 and 2017 was conducted.Parameters in demographics and in the preoperative and postoperative period were evaluated against TFEF(hours)using linear regression models.Results In the whole cohort of 175 children,mean TFEF was 47 hours with Standard Deviation(SD)of±35.In the multivariate model,TFEF decreased with age[beta(B):−0.62;95%confidence interval(95%CI)−1.05 to−0.19;p=0.005)and increased with the presence of severe underlying disease(congenital heart defect or syndrome)(B:26.5;95%CI 3.3 to 49.7;p=0.026).Hence,for every day of age,the time to fully fed decreased by 0.6 hour,and the presence of an underlying disease increased the time to fully fed with over one day.TFEF did not seem to be affected by prematurity,weight loss,symptom duration,preoperative acid/base balance or electrolyte values,surgical method,or method of postoperative feeding.Conclusions TFEF decreased with higher age and increased in children with a severe underlying disease.These results may be useful in providing adequate parental information regarding what affects TFEF and the length of hospital stay.

关键词： stenosis infantile pylori

Two cases of variant late infantile ceroid lipofuscinosis in Jordan

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World Journal of Clinical Cases 2019年第2期7卷 203-208页

作者： Omar Nafi Bashar Ramadan Olaf Riess Rebecca Buchert Tawfiq Froukh Department of Pediatrics Faculty of Medicine Mutah University Institute of Medical Genetics and Applied Genomics Rare Disease Center University of Tübingen Department of Biotechnology and Genetic Engineering Philadelphia University

BACKGROUND Late infantile ceroid lipofuscinosis is a rare neurodegenerative disorder that appears between the ages of 2 and 4 years and is difficult to diagnose. In this report we present two sisters with this condition, and the clinical course consisted of delayed developmental skills initially and later regression of previously acquired skills. The cases were initially considered as childhood disintegrative disorder(CDD); however, when whole exome sequencing(WES) genetic testing was done, they proved to be variant late infantile ceroid lipofuscinosis. This is the first report from Jordan.CASE SUMMARY Clinical presentation included developmental delay and initially speech delay,followed by lose of sphincter control. Motor development was normal until 4 years of age, then they developed ataxia(fear of going downstairs) and weakness while walking. Atonic and myoclonic seizures become intractable, and this was followed by inability to stand or sit and loss of expressive language. In addition to complete blood count test, liver function test, kidney function test, serum electrolyte test, and blood sugar test, serum amino acid profile, B12 level test,thyroid function test, and a brain computed tomography scan were also normal.An electroencephalogram showed a generalized spike and wave pattern, and magnetic resonance imaging showed little to no abnormalities. After dealing with the cases as CDD, WES testing proved a final diagnosis of variant late infantile ceroid lipofuscinosis. Current treatment is anti-epileptic drugs and supportive care at home, and they are now in vegetative state.CONCLUSION This report highlights the importance of WES for the identification of genetic diseases, especially neurodegenerative disorders.

关键词： Ceroid lipofuscinosis Childhood disintegrative disorder Lysosomal storage disorders Neurodegenerative disorders Variant late infantile Case report

CD117 is not always positive in infantile gastrointestinal stromal tumor

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World Journal of Pediatrics 2018年第1期14卷 100-103页

作者： Jin Peng He Jie Xiong Feng Department of Pediatric Surgery Tongji HospitalTongji Medical CollegeHuazhong University of Science and Technology1095 Jiefang AveQiaokou DistrictWuhan 430030HubeiChina

Gastrointestinal stromal tumors (GISTs) are rare in infants. GIST was presumed to originate from the interstitial cells of Cajal (ICC), which has been proven by their immu-nophenotype (CD117 positive). About 95% of GISTs express CD117 and 80% of GISTs also express CD34. They locate mostly in the stomach or the small intestine and usu-ally cause obstruction (1)The UK National Registry of Childhood Tumors reported the incidence of GISTs at 0.02 per million per year in children below the age of 14 years (2)Here we will discuss a very rare case of infantile GIST with negative CD117 expression and make a review of lit-eratures about its clinical, histopathological, and prognos-tic findings.

关键词： CD117 infantile gastrointestinal stromal tumor Gastrointestinal stromal tumors (GISTs)

Retraction: Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy

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Neural Regeneration Research 2022年第2期17卷 245-245页

作者： Gollapalli

The Editors of Neural Regeneration Research have retracted the publication entitled“Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy”(Gollapalli et al.,2021;doi:10.4103/1673-5374.308073)following concerns stemming from misquoting and,accordingly,faulty characterization of key literature cited.

关键词： Regeneration infantile dysfunction

Genetic etiologies associated with infantile hydrocephalus in a Chinese infantile cohort

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World Journal of Pediatrics 2021年第3期17卷 305-316页

作者： Hong-Fang Mei Xin-Ran Dong Hui-Yao Chen Yu-Lan Lu Bing-Bing Wu Hui-Jun Wang Guo-Qiang Cheng Lai-Shuan Wang Yun Cao Lin Yang Wen-Hao Zhou Department of Neonatology Children's Hospital of Fudan UniversityNational Children's Medical CenterShanghaiChina Key Laboratory of Birth Defects Children’s Hospital of Fudan UniversityNational Children’s Medical CenterShanghaiChina Center for Molecular Medicine of Children’s Hospital of Fudan University Institutes of Biomedical SciencesFudan UniversityShanghaiChina Clinical Genetic Center Children’s Hospital of Fudan UniversityNational Children's Medical Center399 Wan Yuan RoadShanghai 201102China

Background infantile hydrocephalus(IHC)is commonly related to other central nervous system diseases,which may have adverse effects on prognosis.The causes of IHC are heterogeneous,and the genetic etiologies are not fully understood.This study aimed to analyze the genetic etiologies of an IHC cohort.Methods The data for 110 IHC patients who had received exome sequencing at the Clinical Genetic Center of the Children's Hospital of Fudan University between 2016 and 2019 were reviewed and analyzed retrospectively.An exome-wide association analysis(EWAS)was performed within this cohort using IHC as the study phenotype.Results Of the 110 IHC patients,a pathogenic or likely pathogenic variant was identified in 16(15%)patients,spanning 13 genes.The genes were mainly associated with metabolic disorders,brain abnormalities,and genetic syndromes.IHC patients who had unclear clinical etiology were more likely to possess a genetic etiology.Based on previous studies and on our EWAS results,ZEB1,SBF2,and GNAI2 were over-represented among IHC patients and might alfect the signaling pathways involved in IHC formation.Conclusions Our study showed heterogeneous genetic etiologies in an IHC cohort.It is essential to perform genetic testing on IHC patients who have unclear clinical etiology,and genes associated with metabolic disorders,brain abnormalities,and genetic syndromes should he noted.In addition,when aiming to discover IHC susceptibility genes,genes that might influence the signaling pathways involved in IHC formation should be prioritized.

关键词： Etiology Genetic Hydrocephalus infantile