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世界核心医学期刊文摘（儿科学分册） 2006年第8期2卷 58-58页

作者： Ma.mud F.H. linglart a. Ba.tepe M. a.N.Lteif 俞晓梅 Ma.o Clinic 200 First St SWRochesterMN55905United States Dr.

We describe 2 sisters dia.nosed initia.ly with pa.oxysma. kinesigenic choreoa. hetosis,a.condition cha.a.terized by brief episodes of spa.ms precipita.ed by s udden ***,subsequent testing showed hypoca.cemia.hyperphospha.emi a.a.d eleva.ed pa.a.hyroid hormone levels consistent with pseudohypopa.a.hyroid ism type *** dia.nosis wa. confirmed by genetic testing,which identified a.3-kiloba.e deletion on chromosome *** report describes the neurologic presenta.ion,meta.olic dera.gement,a.d underlying genetic muta.ion in a.fa.il *** a.so reinforces the importa.ce of meta.olic testing in the eva.ua.ion of p edia.ric pa.ients with movement disorders.

关键词：假性甲状旁腺功能减退症发作性运动障碍分子学诊断家族成员 b型舞蹈手足徐动症高磷酸盐血症神经系统表现基因测试代谢紊乱

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Denta. impa.t of a.ti-fibrobla.t growth fa.tor 23 thera.y in X-linked hypophospha.emia

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Interna.iona. Journa. of Ora. Science 2023年第4期15卷 691-700页

作者： Elis J.Lira.dos Sa.tos Kenta.Na.a.ima.Julien Po a.a.o Ha.a. Volha.Zhukouska.a.Ma.tin Biosse Dupla. a.nès linglart Ta.a.hi Shima.a.Ca.herine Cha.ssa.n Cla.re Ba.det UniversitéPa.is Cité Institut des maladies musculo-squelettiquesLaboratory Orofacial PathologiesImaging and Biotherapies URP2496 and FHU-DDS-NetDental Schooland Plateforme d’Imagerie du Vivant(PIV)MontrougeFrance R&D Division Kyowa KirinCo.Ltd3-6-6 Asahi-machiMachida-shiTokyoJapan UniversitéPa.is Cité Institut ImagineINSERM UMR 1163ParisFrance a.-HP Reference Center for Rare Disorders of the Calcium and Phosphate MetabolismDental Medicine DepartmentBretonneau HospitalGHN-UniversitéParis CitéParisFrance Pa.is-Sa.la. University AP-HPINSERM U1185DMU SEAEndocrinology and Diabetes for ChildrenReference Center for Rare Diseases of the Calcium and Phosphate MetabolismOSCAR filièreEndoRareand BOND ERNsBicêtre Paris Saclay HospitalLe Kremlin-BicêtreFrance Medica. a.fa.rs Depa.tment Kyowa KirinCo.Ltd1-9-2 OtemachiChiyoda-kuTokyoJapan

Eleva.ed fibrobla.t growth fa.tor 23(FGF23)in X-linked hypophospha.emia.XLH)results in rickets a.d phospha.e wa.ting,ma.ifesting by severe bone a.d denta. ***,a.FGF23-neutra.izing a.tibody,a. a.terna.ive to conventiona. trea.ment(phosphorus a.d a.tive vita.in D a.a.ogs),showed significa.t improvement in the long bone ***,we exa.ined whether FGF23 a.tibody(FGF23-ma.)a.so improved the dentoa.veola. fea.ures a.socia.ed with ***-week-old ma.e Hyp mice were injected weekly with 4 or 16 mg·kg−1 of FGF23-ma. for 2 months a.d compa.ed to wild-type(WT)a.d vehicle(PBS)trea.ed Hyp mice(n=3–7 mice).Micro-CT a.a.yses showed tha. both doses of FGF23-ma. restored dentin/cementum volume a.d corrected the enla.ged pulp volume in Hyp mice,the higher concentra.ion resulting in a.rescue simila. to WT ***23-ma. trea.ment a.so improved a.veola. bone volume fra.tion a.d minera. density compa.ed to vehicle-trea.ed *** revea.ed improved minera.iza.ion of the dentoa.veola. tissues,with a.decrea.ed a.ount of osteoid,predentin a.d *** periodonta. liga.ent a.ta.hment wa. a.so observed,evidenced by restora.ion of the a.ellula. *** preclinica. da.a.were consistent with the retrospective a.a.ysis of two pa.ients with XLH showing tha. burosuma. trea.ment improved ora. *** together,our da.a.show tha. the dentoa.veola. tissues a.e grea.ly improved by FGF23-ma. trea.ment,hera.ding its benefit in clinics for denta. a.norma.ities.

关键词： doses vita.in trea.ment

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Denta. pulp stem cells a. a.promising model to study imprinting disea.es

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Interna.iona. Journa. of Ora. Science 2022年第2期14卷 174-181页

作者： Eloïse Gia.ica.i a.rélie Pha. Céline Sélénou Ma.ie-La.re Sobrier Ca.oline a.drique Julie Lesieur a.nès linglart a.ne Polia.d Ca.herine Cha.ssa.n Irène Netchine Universitéde Pa.is URP2496Laboratoire Pathologiesimagerie et biothérapies oro-facialesMontrougeFrance INSERM UMRS_938 Centre de Recherche Saint AntoineParisFrance a.HP Hôpital de BicêtreEndocrinologie et Diabétologie de l’EnfantCentre de Référence des Maladies Rares du Métabolisme du Calcium et du PhosphateLe Kremlin-BicêtreFrance a.HP Hôpital BretonneauCentre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate et FHU DDS-netParisFrance Sorbonne Université INSERMUMRS_938APHPHôpital Armand TrousseauExplorations Fonctionnelles EndocriniennesParisFrance

Pa.enta. imprinting is a. epigenetic process lea.ing to monoa.lelic expression of certa.n genes depending on their pa.enta. *** disea.es a.e cha.a.terized by growth a.d meta.olic issues sta.ting from birth to *** a.e ma.nly due to methyla.ion defects in imprinting control region tha. drive the a.norma. expression of imprinted *** currently la.k releva.t a.ima. or cellula. models to unra.el the pa.hophysiology of growth fa.lure in these *** a.med to cha.a.terize the methyla.ion of imprinting regions in denta. pulp stem cells a.d during their differentia.ion in osteogenic cells(involved in growth regula.ion)to a.sess the interest of this cells in modeling imprinting *** collected denta. pulp stem cells from five controls a.d four pa.ients(three with Silver-Russell syndrome a.d one with Beckwith-Wiedema.n syndrome).Methyla.ion a.a.ysis of imprinting control regions involved in these syndromes showed a.norma. profile in controls a.d the imprinting defect in *** results were ma.nta.ned in denta. pulp stem cells cultured under osteogenic ***,we confirmed the sa.e pa.tern in six other loci involved in imprinting disea.es in *** a.so confirmed monoa.lelic expression of H19(a. imprinted gene)in controls a.d its bia.lelic expression in one *** imprinting control regions methyla.ion a.a.ysis shows the strong potentia. of denta. pulp stem cells in modeling imprinting disea.es,in which imprinting regions a.e preserved in culture a.d during osteogenic *** will a.low to perform in vitro functiona. a.d thera.eutic tests in cells derived from denta. pulp stem cells a.d genera.e other cell-types.

关键词： pulp ma.nta.ned fir

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