MALFORMATIONS

作品数：63被引量：92H指数：5
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相关领域：医药卫生农业科学更多>>
相关作者：陈亮朱小辉闫丽盈乔杰更多>>
相关机构：大连大学中山大学附属第一医院北京大学第三医院上海交通大学医学院附属新华医院更多>>
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Biopsychosocial Impact of Lymphaticovenous Malformations on Children and Their Parents: Emphasizing a Multidisciplinary Approach
《Open Journal of Pediatrics》2024年第6期1101-1107,共7页Eric Dos Santos De Andrade Ramy Aly 
Introduction: Lymphaticovenous malformations (LVM) are benign congenital anomalies of the venous and lymphatic systems, frequently presenting as complex masses in the head and neck region of children. While the clinic...
关键词：Lymphaticovenous Malformations Multidisciplinary Care Psychosocial Impact 
Targeted therapy for capillary-venous malformations被引量：2
《Signal Transduction and Targeted Therapy》2024年第7期3024-3039,共16页Lola Zerbib Sophia Ladraa Antoine Fraissenon Charles Bayard Marina Firpion Quitterie Venot Sanela Protic Clément Hoguin Amandine Thomas Sylvie Fraitag Jean-Paul Duong Sophie Kaltenbach Estelle Balducci Coline Lefevre Patrick Villarese Vahid Asnafi Christine Broissand Nicolas Goudin Ivan Nemazanyy Gwennhael Autret Bertrand Tavitian Christophe Legendre Nadia Arzouk Veronique Minard-Colin Caroline Chopinet Michael Dussiot Denise MAdams Tristan Mirault Laurent Guibaud Paul Isenring Guillaume Canaud 
supported by the European Research Council(CoG 2020 grant number 101000948 awarded to GC);the Agence Nationale de la Recherche-Programme d’Investissements d’Avenir(ANR-18-RHUS-005 to GC);the Agence Nationale de la Recherche-Programme de Recherche Collaborative(19-CE14-0030-01 to GC);supported by the CLOVES SYNDROME COMMUNITY(West Kennebunk,USA),Association Syndrome de CLOVES(Nantes,France),Fondation d’entreprise IRCEM(Roubaix,France),Fonds de dotation Emmanuel BOUSSARD(Paris,France),the Fondation DAY SOLVAY(Paris,France),the Fondation TOURRE(Paris,France)to GC,the Fondation BETTENCOURT SCHUELLER(Paris,France)to GC,the Fondation Simone et Cino DEL DUCA(Paris,France),the Fondation Line RENAUD-Loulou GASTE(Paris,France,the Fondation Schlumberger pour l’Education et la Recherche(Paris,France),the Association Robert Debrépour la Recherche.
Sporadic venous malformations are genetic conditions primarily caused by somatic gain-of-function mutation of PIK3CA or TEK,an endothelial transmembrane receptor signaling through PIK3CA.Venous malformations are assoc...
关键词：PIK3CA MALFORMATIONS VENOUS 
Balloon cells in malformations of corticaldevelopment:friends or foes?
《Acta Epileptologica》2024年第2期87-99,共13页Zili Liu Xuefeng Shen Kaomin Lin Fengpeng Wang Jin Gao Yi Yao Jianyuan Sun 
supported by the National Science and Technology Innovation 2030-Major Project of China(2021ZD0202500,to JS);The Joint Funds of the National Natural Science Foundation of China(U20A6005,to JS);National Natural Science Foundation of China(32100765,to ZL);Natural Science Foundation of Guangdong Province(2022A1515010297,to XS);Shenzhen-Hong Kong-Macao Science and Technology Innovation Project(SGDX2020110309280100,to YY);Xiamen Medical health science and technology project(3502Z20194098,to FW).
Balloon cells(BCs)are specific pathological marker of cortical malformations during brain development,often associ-ated with epilepsy and development delay.Although a large number of studies have investigated the role...
关键词：Balloon cells MCD EPILEPSY mTOR pathway 
A mutation in TBXT causes congenital vertebral malformations in humans and mice
《Journal of Genetics and Genomics》2024年第4期433-442,共10页Shuxia Chen Yunping Lei Yajun Yang Chennan Liu Lele Kuang Li Jin Richard HFinnell Xueyan Yang Hongyan Wang 
supported by the National Key R&D Program of China(2021YFC2701101 to H.W.and X.Y.);the National Natural Science Foundation of China(81930036 and 82150008 to H.W.,and 31000542 to X.Y.);the Commission of Science and Technology of Shanghai Municipality(20JC1418500 to H.W.).
T-box transcription factor T(TBXT;T)is required for mesodermal formation and axial skeletal development.Although it has been extensively studied in various model organisms,human congenital vertebral malformations(CVMs...
关键词：Congenital vertebral malformation TBXT T gene Loss-of-function mutation 
Major Ear Aplasia and Cochleovestibular Dysplasia: Rare Congenital Malformation about a Case
《International Journal of Otolaryngology and Head & Neck Surgery》2023年第6期397-404,共8页Mouangue-Mbonjo Louise Epée Ngoué Jeannette Mantho Fopa Pauline Njifou Njimah Amadou 
Introduction: The congenital malformations of the ear are rare and often isolated, may be unilateral or bilateral, and can be associated with another syndromic malformation. Such malformations so not necessarily impac...
关键词：Ear Malformations Congenital Malformations Major Aplasia Congenital Facial Paralysis Congenital Deaf-Mutism 
CT Profile of Hydrocephalus in Children at the Charles de Gaulle Pediatric Teaching Hospital in Ouagadougou
《Open Journal of Radiology》2023年第3期155-166,共12页Soré Moussa Zanga Kisito Nagalo Fadiilah Laetitia Nonkané Aïscha Madina Napon Ousséini Diallo Léonie Claudine Lougué/Sorgho Rabiou Cissé 
Aim of the Study: The aim is to analyse the epidemiological, clinical and CT aspects of hydrocephalus in children. Method: This was a cross-sectional descriptive study with retrospective collection from 1 June 2021 to...
关键词：HYDROCEPHALUS MALFORMATIONS CEREBRAL TOMOGRAPHY 
Compound Heterozygous PLD1 Variants in Right-Sided Heart Malformations
《Congenital Heart Disease》2023年第2期213-218,共6页Cherith Somerville Kelsey Kalbfleisch Roozbeh Manshaei Qiliang Ding John B.A.Okello Rachel Silver David Chitayat Varsha Thakur Olivier Villemain Rebekah Jobling 
This work was funded by the Ted Rogers Centre for Heart Research.
We report a three-year-old male child who presented with congenital valvular defects,right ventricular malformation,and initial developmental delay.Genome sequencing showed rare deleterious biallelic missense variants...
关键词：Genome sequencing PLD1 fetal echocardiogram right ventricular malformation congenital valve defects 
Effect of an amalgamated antibiotic and its connection to cytogenotoxicity and histo-architectural malformations in stinging catfish
《Emerging Contaminants》2022年第1期381-390,共10页Mostt Tajnova Islam Golam Mohammod Mostakim Md Golam Azom Umme Ohida Rahman Mst Mansura Khan Mohd Golam Quader Khan M.Sadiqul Islam 
Intensive fish farming has an excessive prevalence of infection and is typically controlled by the administration of antibiotics.Although amalgamated antibiotics are a relatively novel therapeutic idea and more effect...
关键词：Antibiotic CYTOTOXICITY GENOTOXICITY Histomorphological defects Stinging catfish 
Perspectives on diagnosis and surgical treatment of congenital cervical malformations被引量：1
《Science Bulletin》2022年第19期1935-1938,共4页Yiying Sun Grigoris F.Grimbizis Lan Zhu 
supported by the National Key Research and Development Program of China(2021YFC2701401);the National Natural Science Foundation of China(82171614);the Nonprofit Central Research Institute Fund of Chinese Academy of Medical Sciences(2020-PT320-003 and 2021-PT320-001)。
Malformations of the female lower genital tract are congenital deviations from normal anatomy caused by abnormal development of the Müllerian ducts and urogenital sinus.These malformations may cause troublesome sympt...
关键词：ANATOMY CONGENITAL CERVICAL 
Screening for musculoskeletal system malformations and birth injuries in newborns:Results of a screening program in two hospitals in Shenzen,China被引量：1
《Pediatric Investigation》2022年第3期156-162,共7页Zhu Xiong Zhenhui Zhao Hansheng Deng Xin Qiu Weiqing Li Xiaodi Chen Yu Tang Shuai Han Jiaxin Zhao Ting Cai Xian Liu Shuaidan Zeng Shengping Tang 
Sanming Project of Medicine in Shenzhen(Grant/Award Number:SZSM202011012);Shenzhen Fund for Guangdong Provincial High-level Clinical Key specialties(Grant/Award Number:No.SZXK035);Shenzhen Innovation Science and Technology Committee(Grant/Award Number:JCYJ20180228175358223)。
Importance:There are a variety of musculoskeletal malformations and injuries that can occur in newborns.These can be a significant cause of perinatal death or a reason for miscarriage and can lead to long-term functio...
关键词：Musculoskeletal system malformations NEWBORN SCREENING 
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