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Exploring the role of interleukin-6 receptor blockade in epilepsy and associated neuropsychiatric conditions through a mendelian randomization study

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World Journal of Psychiatry 2024年第8期14卷 1244-1253页

作者： Yan-Mei Yu Gui-Hong Jin Chong Zhong Hao Qian Lei Wang Feng Zhan department of pediatrics The First People's Hospital of ChuzhouChuzhou 239001Anhui ProvinceChina department of Wenzhou Institute University of Chinese Academy of SciencesWenzhou 325000Zhejiang ProvinceChina

BACKGROUND The interplay between inflammation,immune dysregulation,and the onset of neurological disorders,including epilepsy,has become increasingly ***(IL)-6,a pro-inflammatory cytokine,is suspected to not only mediate traditional inflammatory pathways but also contribute to neuroinflammatory responses that could underpin neuropsychiatric symptoms and broader psychiatric disorders in epilepsy *** role of IL-6 receptor(IL6R)blockade presents an intriguing target for therapeutic intervention due to its potential to attenuate these *** conditions due to *** Mendelian randomization(MR)analysis employing single nucleotide poly-morphisms(SNPs)in the vicinity of the IL6R gene(total individuals=408225)was used to evaluate the putative causal relationship between IL6R blockade and epilepsy(total cases/controls=12891/312803),focal epilepsy(cases/controls=7526/399290),and generalized epilepsy(cases/controls=1413/399287).SNP weights were determined by their effect on C-reactive protein(CRP)levels and integrated using inverse variance-weighted meta-analysis as surrogates for IL6R *** address potential outlier and pleiotropic influences,sensitivity analyses were conducted employing a variety of MR methods under different modeling *** The genetic simulation targeting IL6R blockade revealed a modest but significant reduction in overall epilepsy risk[inverse variance weighting:Odds ratio(OR):0.827;95%confidence interval(CI):0.685-1.000;P=0.05].Subtype analysis showed variability,with no significant effect observed in generalized,focal,or specific childhood and juvenile epilepsy *** the primary inflammatory marker CRP,the findings also suggested potential non-inflammatory pathways mediated by IL-6 signaling contributing to the neurobiological landscape of epilepsy,hinting at possible links to neuroinflammation,psychiatric symptoms,and associated mental *** The i

关键词： Epilepsy Interleukin-6 receptor blockade Mendelian randomization Neuroinflammation Psychiatric disorders

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Genetic variant reanalysis reveals a case of Sandhoff disease with onset of infantile epileptic spasm syndrome

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Acta Epileptologica 2024年第1期7卷 67-73页

作者： Qi Zhang Liping Zou Qian Lu Qiuhong Wang Shuo Dun Jing Wang Medical School of Chinese PLA Beijing100853China department of pediatrics the First Medical Center of PLA General HospitalBeijing100853China

Background Sandhoff disease(SD)i s an autosomal recessive lysosomal disease with clinical manifestations such as epilepsy,psychomotor retardation and developmental ***,infantile SD with onset of infantile epilepsy spasm syndrome(IESS)is extremely *** presentation The case presented here was a 22-month-old boy,who presented with IESS and psychomotor retardation/regression at 6 months of *** patient showed progressive aggravation of seizures and excessive startle *** whole exome sequencing data,which initially revealed negative results,were reanalyzed and indicated a homozygous mutation at the c.1613+4del splice site of the HEXB *** activities ofβ-hexosaminidase A and total hexosaminidase were significantly *** fundus examination showed cherry red spots at the *** IESS can be an epileptic phenotype of infantile *** phenotypes should be adequately collected in genetic *** the case of negative sequencing results,gene variant reanalysis can be performed when the patients show clinically suspicious indications.

关键词： Infantile Sandhoff disease Gene variant reanalysis HEXB gene Infantile epilepsy spasm syndrome Cherry red spot Human phenotype ontology

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Sirolimus can promote the disappearance of renal angiomyolipoma associated with tuberous sclerosis complex:a prospective cohort study

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World Journal of pediatrics 2024年第6期20卷 602-610页

作者： Shuo Dun Yang-Yang Wang Lin Wan Qiu-Hong Wang Qian Lu Xiao-Yan Yang Qi Zhang Hui-Min Chen Lu-Peng Qiu Li-Ping Zou Medical School of Chinese PLA Beijing 100853China department of pediatrics The First Medical CenterChinese PLA General HospitalBeijing 100853China Center of Epilepsy Beijing Institute for Brain DisordersBeijing 100069China

Background Renal angiomyolipoma(RAML)is the most common kidney lesion in patients with tuberous sclerosis complex(TSC),affecting about 80%of *** is a benign tumor that grows over time,usually bilaterally,and can easily lead to kidney complications such as acute ***,we investigated the efficacy and safety of sirolimus in children with TSC-associated RAML and explored the factors affecting tumor disappearance under sirolimus treatment through subgroup *** A prospective cohort study was *** was initiated at 1 mg/(m^(2)×day),and dose adjustments were made by a 2-week titration period to attain a trough blood concentration of 5-10 ng/*** disappearance of RAML in chil-dren after sirolimus treatment was observed,and Cox regression was used to screen the factors affecting tumor *** One hundred and twenty-six patients who met the criteria were *** 3 months,6 months,12 months,and 24 months of follow-up,tumors disappeared in 18(14.3%),30(23.8%),39(31.0%),and 42(33.3%)children,*** disappeared in 50(39.7%)children by the last visit of each individual,and 30(60%)of them occurred within 6 *** multivariate Cox regression analysis showed that patients with a smaller maximum tumor diameter at baseline had a higher tumor disappearance ***-six(29%)patients had stomatitis during the entire treatment period,and no serious *** Sirolimus could promote the disappearance of TSC-related *** disappearance rate was correlated with the maximum diameter at baseline,and the smaller the tumor was,the higher the disappearance *** is well tolerated in the treatment of RAML associated with TSC.

关键词： Angiomyolipoma mTOR inhibitor Sirolimus Tuberous sclerosis

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Insights into postural orthostatic tachycardia syndrome after COVID-19 in pediatric patients

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World Journal of pediatrics 2024年第3期20卷 201-207页

作者： Ya-Xi Cui Jun-Bao Du Hong-Fang Jin department of pediatrics Peking University First HospitalNo.1 Xi-an Men StreetWest DistrictBeijing 100034China State Key Laboratory of Vascular Homeostasis and Remodeling Peking UniversityBeijing 100191China

The pandemic caused by the novel severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)profoundly threatened human health globally and greatly impacted the world economy[1].While most patients recovered,some suff... 详细信息

关键词： acute patients tachycardia

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Height and body mass index trajectories from 1975 to 2015 and prevalence of stunting,underweight and obesity in 2016 among children in Chinese cities:findings from five rounds of a national survey

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World Journal of pediatrics 2024年第4期20卷 404-412页

作者： Xin‑Nan Zong Hui Li Ya‑Qin Zhang department of Growth and Development Capital Institute of PediatricsBeijing 100020China

Background A more comprehensive assessment of growth and nutrition in children is required in China due to rapid socioeconomic *** aimed to investigate height and body mass index(BMI)trajectories from 1975 to 2015 and the prevalence of stunting and obesity in 2016 among children in Chinese *** A total of 904,263 children from birth to 6.9 years were collected from a series of nationally representative surveys in *** and BMI trajectories and prevalence of stunting,underweight,overweight and obesity were *** The average height level of Chinese urban children under 7 years presented a positive secular trend from 1975 to 2015;however,a slowing tendency occurred in 2005‒*** apparent increase was observed at the 5th,50th and 95th percentiles of BMI in urban children aged 3 years and older,with a more prominent increase at the 95th *** total prevalence of stunting and underweight under 7 years was 1.4%and 2.0%,*** total prevalence of overweight and obesity under 7 years was 12.6%and 4.3%,respectively,with 12.7%and 4.9%for boys,12.6%and 3.6%for girls,12.1%and 4.0%in urban areas and 13.1%and 4.5%in suburban rural *** The average height level of Chinese urban children has reached World Health Organization child growth standards since 2005 and presented a slowing tendency in secular trend in 2005‒*** attention and efforts and public health interventions should be urgently made to combat overweight and obesity among preschool children.

关键词： Body mass index Children Height Obesity Stunting

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Associations between Geriatric Nutrition Risk Index,bone mineral density and body composition in type 2 diabetes patients

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World Journal of Diabetes 2024年第3期15卷 403-417页

作者： Xiao-Xiao Zhu Kai-Feng Yao Hai-Yan Huang Li-Hua Wang department of pediatrics The Second Affiliated Hospital of Nantong UniversityFirst People’s Hospital of Nantong CityNantong 226001Jiangsu ProvinceChina department of Nursing The Second Affiliated Hospital of Nantong UniversityFirst People’s Hospital of Nantong CityNantong 226001Jiangsu ProvinceChina department of Endocrinology The Second Affiliated Hospital of Nantong UniversityFirst People’s Hospital of Nantong CityNantong 226001Jiangsu ProvinceChina

BACKGROUND Type 2 diabetes mellitus(T2DM),a fast-growing issue in public health,is one of the most common chronic metabolic disorders in older *** and sarcopenia are highly prevalent in T2DM patients and may result in fractures and *** people with T2DM,the association between nutrition,sarcopenia,and osteoporosis has rarely been *** To evaluate the connections among nutrition,bone mineral density(BMD)and body composition in patients with *** We enrolled 689 patients with T2DM for this cross-sectional *** patients underwent dual energy X-ray absorptiometry(DXA)examination and were categorized according to baseline Geriatric Nutritional Risk Index(GNRI)values calculated from serum albumin levels and body *** GNRI was used to evaluate nutritional status,and DXA was used to investigate BMD and body *** forward linear regression analysis was used to identify the factors associated with BMD and skeletal muscle mass *** Of the total patients,394 were men and 295 were *** with patients in tertile 1,those in tertile 3 who had a high GNRI tended to be younger and had lower HbA1c,higher BMD at all bone sites,and higher appendicular skeletal muscle index(ASMI).These important trends persisted even when the patients were divided into younger and older *** GNRI was positively related to ASMI(men:r=0.644,P<0.001;women:r=0.649,P<0.001),total body fat(men:r=0.453,P<0.001;women:r=0.557,P<0.001),BMD at all bone sites,lumbar spine(L1-L4)BMD(men:r=0.110,P=0.029;women:r=0.256,P<0.001),FN-BMD(men:r=0.293,P<0.001;women:r=0.273,P<0.001),and hip BMD(men:r=0.358,P<0.001;women:r=0.377,P<0.001).After adjustment for other clinical parameters,the GNRI was still significantly associated with BMD at the lumbar spine and femoral ***,a low lean mass index and higherβ-collagen special sequence were associated with low BMD at all bone *** was negatively correlated with

关键词： Geriatric Nutrition Risk Index Bone mineral density Skeletal muscle mass Type 2 diabetes

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Risk factors for renal outcomes in children with antineutrophil cytoplasmic antibody-associated vasculitis:a nationwide retrospective study in China

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World Journal of pediatrics 2024年第5期20卷 506-516页

作者： Li-Wen Tan Jun-Li Wan Chun-Hua Zhu Hong Xu Zheng-Kun Xia Li-Zhi Chen Xiao-Chuan Wu Fang Wang Xiao-Rong Liu Cheng-Guang Zhao Xiao-Zhong Li Jian-Hua Mao Xiao-Wen Wang Wen-Yan Huang Yu-Hong Li Jian-Jiang Zhang Shi-Pin Feng Jun Yang Jiao-Jiao Liu Chun-Lin Gao Li-Ping Rong Lan-Jun Shuai Ke Xu He-Jia Zhang Qiu Li Ai-Hua Zhang Mo Wang department of Nephrology Children’s Hospital of Chongqing Medical UniversityZhongshan 2nd Rd.136Chongqing400014China Ministry of Education Key Laboratory of Child Development and Disorders National Clinical Research Center for Child Health and DisordersChina International Science and Technology Cooperation Base of Child Development and Critical DisordersChildren’s Hospital of Chongqing Medical UniversityChongqingChina Chongqing Key Laboratory of pediatrics Children’s Hospital of Chongqing Medical UniversityChongqingChina department of Nephrology Children’s Hospital of Nanjing Medical University72 Guangzhou RoadNanjing210008China department of Nephrology Children’s Hospital of Fudan UniversityNational Paediatric Medical Center of ChinaShanghaiChina department of pediatrics Jinling HospitalNanjing Medical UniversityNanjingChina department of pediatrics Jinling HospitalThe First School of Clinical MedicineSouthern Medical UniversityNanjingChina department of pediatrics Jinling HospitalMedical School of Nanjing UniversityNanjingChina department of Pediatric Nephrology and Rheumatology The First Affiliated Hospital of Sun Yat-Sen UniversityGuangzhouChina department of pediatrics The Second Xiangya Hospital of Central South UniversityChangshaChina department of pediatrics Peking University First HospitalBeijingChina department of Nephrology Beijing Children’s HospitalCapital Medical UniversityBeijing100045China National Center for Children’s Health BeijingChina department of pediatrics Shengjing Hospital of China Medical UniversityShenyangChina department of Nephrology and Immunology Children’s Hospital of Soochow UniversitySuzhouChina department of Nephrology Children HospitalZhejiang University School of MedicineHangzhouChina department of Nephrology Wuhan Children’s Hospital(Wuhan Maternal and Child Healthcare Hospital)Tongji Medical CollegeHuazhong University of Science&TechnologyWuhanChina department of Nephrology and Rheumatology Shanghai Children’s HospitalSchool

Background Pediatric antineutrophil cytoplasmic antibody-associated vasculitis(AAV)is a life-threatening systemic vasculitis featured by liability to renal ***,there are few studies on the risk factors and predictive models for renal outcomes of AAV in *** Data from 179 AAV children in multiple centers between January 2012 and March 2020 were collected *** risk factors and predictive model of end-stage renal disease(ESRD)in AAV were *** Renal involvement was the most typical manifestation(95.5%),and the crescent was the predominant pathological lesion(84.9%).The estimated glomerular filtration rate(eGFR)was evaluated in 114 patients,of whom 59.6%developed ESRD,and the median time to ESRD was 3.20 *** eGFR[P=0.006,odds ratio(OR)=0.955,95%confidence interval(CI)=0.924–0.987]and the percentages of global glomerulosclerosis(pGGS;P=0.018,OR=1.060,95%CI=1.010–1.112)were independent risk factors for ESRD of renal *** on the pGGS and eGFR at renal biopsy,we developed three risk grades of ESRD and one predictive *** Kaplan‒Meier curve indicated that renal outcomes were significantly different in different risk grades(P<0.001).Compared with serum creatinine at baseline,the predictive model had higher accuracy(0.86 versus 0.58,P<0.001)and a lower coefficient of variation(0.07 versus 0.92)in external *** Renal involvement is the most common manifestation of pediatric AAV in China,of which more than half deteriorates into *** predictive model based on eGFR at renal biopsy and the pGGS may be stable and accurate in speculating the risk of ESRD in AAV children.

关键词： Antineutrophil cytoplasmic antibody End-stage renal disease Glomerulonephritis Pediatric nephrology Vasculitis

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Growth and development of children in China:achievements,problems and prospects

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World Journal of pediatrics 2024年第2期20卷 97-104页

作者： Xin-Nan Zong Hui Li department of Growth and Development Capital Institute of PediatricsBeijing 100020China

Growth reflects the general condition of society,and is a measure of the nutritional and hygienic status of a population[1,2].Nutrition is one of the most important components of children’s well-being[3].The Chinese government attaches great importance to children’s health and development,with a clear statement and consistent practice for“Children are the future and hope of the motherland”.

关键词： mother statement children

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Hemodynamic management of congenital diaphragmatic hernia:the role of targeted neonatal echocardiography

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World Journal of Pediatric Surgery 2024年第2期7卷 81-89页

作者： Aimann Surak Linda Mahgoub Joseph Y Ting department of pediatrics University of AlbertaEdmontonAlbertaCanada

Congenital diaphragmatic hernia(CDH)is a major congenital anomaly,resulting from the herniation of abdominal contents into the thoracic cavity,thereby impeding the proper development of the lungs and pulmonary *** severity correlates with a spectrum of pulmonary hypoplasia,pulmonary hypertension(PHT),and cardiac dysfunction,constituting the pathophysiological triad of this complex *** accurate diagnosis and effective management of PHT and cardiac dysfunction is pivotal to optimizing patient *** neonatal echocardiography is instrumental in delivering real-time data crucial for the bespoke,pathophysiology-targeted hemodynamic management of CDH-associated PHT.

关键词： congenital targeted neonatal

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Stubborn Hypoxia in Neonates with D-Transposition of the Great Arteries after Arterial Switch Operation: Central Sleep Apnea as the Cause and Potential Indicator of Brain Immaturity

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Congenital Heart Disease 2024年第2期19卷 185-195页

作者： Camden L.Hebson Kyle Bliton Amr Y.Hammouda Kaitlyn Barr W.Hampton Gray Mohini Gunnett Waldemar F.Carlo department of pediatrics Division of Pediatric CardiologyUniversity of Alabama BirminghamBirmingham35233USA department of pediatrics Division of Pediatric PulmonologyUniversity of Alabama BirminghamBirmingham35233USA department of pediatrics University of Alabama BirminghamBirmingham35233USA department of Surgery Division of Cardiothoracic SurgeryUniversity of Alabama BirminghamBirmingham35233USA

D-transposition of the great arteries(d-TGA)is surgically repaired with the arterial switch operation(ASO)with excellent results,however short and long-term morbidities still develop including neurocognitive *** significant central sleep apnea is uncommon in non-premature infants,but when present indicates immature autonomic control of respiration likely due to a neurologic *** report the unanticipatedfinding of central sleep apnea in four-term neonates with d-TGA after uncomplicated ASO,with the short-term complication of delayed hospital discharge and long-term concerns regarding this early marker of brain immaturity and its hindrance to normal *** this report,we will review each patient’s clinical course and then examine the literature on pediatric central sleep apnea,neurodevelopmental outcomes after ASO,and the important overlap of these entities in the care of patients going forward.

关键词： Transposition congenital heart disease sleep apnea polysomnography

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