interictal-high-frequency-oscillations-detected-with-simultaneous

Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy

Crucial to the success of epilepsy surgery is the availability of a robust biomarker that identifies the Epileptogenic Zone (EZ). High Frequency ...

Boston Children's Hospital, Harvard Medical School

Tuberous sclerosis complex (TSC) is a genetic disease characterized by the presence of hamartomatous lesions in multiple organs and cortical tubers in the brain. The majority of patients with TSC have epilepsy, although the mechanisms underlying epileptogenesis remain unknown. Tubers are traditionally thought to be stable lesions that result from abnormal corticogenesis in early fetal development. Recently, cystlike tubers have been identified in nearly half of patients with TSC, although the spectrum and natural history of these lesions remains unknown. Herein we report eight children with a high burden of cystlike tubers and present detailed clinical information on two children with documented progression. We also report neuropathologic findings of one of the cystlike cortical tubers resected in epilepsy surgery. These cases support the notion that cystlike tubers in TSC are not static lesions and can exhibit evolving characteristics over time. Further work evaluating how these lesions relate to epileptogenesis needs to be done.

Progressive multifocal cystlike cortical tubers in tuberous sclerosis complex: Clinical and neuropathologic findings.

&#x8111;&#x5F25;&#x6F2B;&#x6027;&#x8F74;&#x7D22;&#x8FDE;&#x63A5;&#x5F00;&#x59CB;&#x5728;&#x6BCF;&#x4E2A;&#x8111;&#x533A;&#x7684;&#x5F84;&#x5411;&#x8FC1;&#x79FB;&#x671F;&#x95F4;&#x51FA;&#x751F;&#x524D;&#x53D1;&#x5C55;&#x3002;&#x5927;&#x91CF;&#x7684;&#x7406;&#x8BBA;&#x4ECD;&#x5728;&#x79EF;&#x6781;&#x8FA9;&#x8BBA;&#x795E;&#x7ECF;&#x5143;&#x8FC1;&#x79FB;&#x3001; &#x53D1;&#x5C55;&#x4E2D;&#x56FD;&#x5BB6;&#x7684;&#x8FDE;&#x63A5;&#x6027;&#x548C; gyrification &#x4E4B;&#x95F4;&#x7684;&#x8054;&#x7CFB;&#x3002;&#x5728;&#x8FD9;&#x91CC;&#xFF0C;&#x6211;&#x4EEC;&#x9AD8;&#x89D2;&#x5206;&#x8FA8;&#x7387;&#x6269;&#x6563;&#x675F;&#x4E0A;&#x7528;&#x4E8E;&#x63A8;&#x65AD;&#x6B7B;&#x4EA1;&#x80CE;&#x513F;&#x4EBA;&#x7C7B;&#x5927;&#x8111; &#xFF08;postconception &#x5468; (W) 17-40&#xFF09; &#x6587;&#x6863;&#x7684;&#x5F84;&#x5411;&#x548C;&#x5207;&#x5411;&#x7EC4;&#x7EC7;&#x8868;&#x793A;&#x8FC1;&#x79FB;&#x8DEF;&#x5F84;&#x53EF;&#x80FD;&#x4F1A;&#x56DE;&#x5F52;&#x548C; corticocortical &#x7EC4;&#x7EC7;&#x548C; gyrification &#x7684;&#x51FA;&#x73B0;&#x3002;W17 &#x5728;&#x5360;&#x4E3B;&#x5BFC;&#x5730;&#x4F4D;&#x7684;&#x5F84;&#x5411;&#x7EC4;&#x7EC7;&#x9010;&#x6E10;&#x51CF;&#x5C11;&#x9996;&#x5148;&#x5728;&#x80CC;&#x9876;&#x53F6;&#x6795;&#xFF0C;&#x540E;&#x6765;&#x5728;&#x8179;&#x4FA7;&#x989D;&#x989E;&#x90E8;&#x533A;&#x57DF;&#x4E0E;&#x533A;&#x57DF;&#x7684;&#x53D8;&#x5316;&#xFF1A; &#x5F84;&#x5411;&#x7EC4;&#x7EC7;&#x518D;&#x575A;&#x6301;&#x5728;&#x6728;&#x536B;&#x4E09;&#x7684;&#x6DF1;&#x5EA6;&#x6BD4;&#x56DE;&#x7684;&#x5CF0;&#x5CE6;&#x3002;&#x5728; W17 &#x795E;&#x7ECF;&#x8282;&#x663E;&#x8D6B;&#x5730;&#x4F4D;&#x7684;&#x4E3B;&#x5BFC;&#x5207;&#x5411;&#x7EC4;&#x7EC7;&#x4E5F;&#x5728;&#x9010;&#x6E10;&#x6D88;&#x5931;&#x5C1A;&#x4E66;&#x795E;&#x7ECF;&#x8282;&#x7684;&#x9686;&#x8D77;&#x7684;&#x6D88;&#x5931;&#x3002;&#x51E0;&#x4E2A;&#x4E0D;&#x6210;&#x719F;&#x7684;&#x957F;&#x7A0B;&#x5173;&#x8054;&#x8DEF;&#x5F84;&#x5728; W17 &#x53EF;&#x89C1;&#xFF0C;&#x7531;&#x4E00;&#x8BCD;&#x9010;&#x6E10;&#x660E;&#x663E;&#x3002;&#x77ED;&#x7A0B; corticocortical &#x5927;&#x7247;&#x51FA;&#x73B0;&#x4E4B;&#x524D; gyrification &#x5728;&#x6728;&#x536B;&#x4E09;&#x4EE5;&#x540E;&#x53D1;&#x5C55;&#x7684;&#x5730;&#x533A;&#x3002;&#x6211;&#x4EEC;&#x7684;&#x7814;&#x7A76;&#x7ED3;&#x679C;&#x8868;&#x660E;&#x533A;&#x57DF;&#x7684;&#x5F84;&#x5411;&#x7EC4;&#x7EC7;&#x56DE;&#x5F52;&#x548C;&#x80CE;&#x513F;&#x5927;&#x8111;&#x8FDE;&#x63A5;&#x7684;&#x533A;&#x57DF;&#x51FA;&#x73B0;&#x6536;&#x76CA;&#x4E00;&#x822C;&#x4ECE; posterodorsal &#x5230;&#x8179;&#x4FA7;&#x4E0E;&#x5F53;&#x5730;&#x53D8;&#x5316;&#x3002;

&#x65B0;&#x5174;&#x4EBA;&#x7C7B;&#x80CE;&#x513F;&#x5927;&#x8111;&#x4E2D;&#x7684;&#x8111;&#x8FDE;&#x63A5;&#xFF1A; &#x5148;&#x751F;&#x7EA4;&#x7EF4;&#x675F;&#x6210;&#x50CF;&#x7814;&#x7A76;&#x3002;

Cerebral axonal connections begin to develop before birth during radial migration in each brain area. A number of theories are still actively debated regarding the link between neuronal migration, developing connectivity, and gyrification. Here, we used high angular resolution diffusion tractography on postmortem fetal human brains (postconception week (W) 17-40) to document the regression of radial and tangential organization likely to represent migration pathways and the emergence of corticocortical organization and gyrification. The dominant radial organization at W17 gradually diminished first in dorsal parieto-occipital and later in ventral frontotemporal regions with regional variation: radial organization persisted longer in the crests of gyri than at the depths of sulci. The dominant tangential organization of the ganglionic eminence at W17 also gradually disappeared by term, together with the disappearance of the ganglionic eminence. A few immature long-range association pathways were visible at W17, gradually became evident by term. Short-range corticocortical tracts emerged prior to gyrification in regions where sulci later developed. Our results suggest that the regional regression of radial organization and regional emergence of fetal brain connectivity proceeds in general from posterodorsal to anteroventral with local variations.

Emerging cerebral connectivity in the human fetal brain: an MR tractography study.

Connexions axonales c&eacute;r&eacute;brale commencent &agrave; se d&eacute;velopper avant la naissance pendant la migration radiale dans chaque r&eacute;gion du cerveau. Un certain nombre de th&eacute;ories est toujours activement d&eacute;battu en ce qui concerne le lien entre la migration neuronale, la connectivit&eacute; en d&eacute;veloppement et gyrification. Ici, nous avons utilis&eacute; tractography diffusion haute r&eacute;solution angulaire sur le cerveau de foetus humain post-mortem (dont semaine (W) 17-40) pour documenter la r&eacute;gression des radiale et tangentielle organisation susceptible de repr&eacute;senter des voies de migration et l&#39;&eacute;mergence de corticocortical organisation et gyrification. L&#39;organisation dominante radiale &agrave; W17 graduellement diminu&eacute; d&#39;abord dorsale pari&eacute;to-occipitale et plus tard dans les r&eacute;gions fronto-temporale ventrale avec variations r&eacute;gionales : organisation radiale a persist&eacute; plus dans les cr&ecirc;tes de circonvolutions que la profondeur des sillons. L&#39;organisation tangentielle dominante de l&#39;&eacute;minence ganglionnaire &agrave; W17 &eacute;galement progressivement disparu par terme, ainsi que la disparition de l&#39;&eacute;minence ganglionnaire. Quelques voies immatures association &agrave; long terme &eacute;taient visibles &agrave; W17, est progressivement devenu &eacute;vidents par terme. Parcelles &agrave; courte port&eacute;e corticocortical &eacute;merg&eacute; avant gyrification dans les r&eacute;gions o&ugrave; les sulci d&eacute;velopp&eacute; plus tard. Nos r&eacute;sultats sugg&egrave;rent que la r&eacute;gression r&eacute;gionale d&#39;organisation radiale et &eacute;mergence r&eacute;gionale de connectivit&eacute; du cerveau foetal proc&egrave;de en g&eacute;n&eacute;ral de post&eacute;rodorsal &agrave; ant&eacute;roventrale avec des variations locales.

&Eacute;mergents connectivit&eacute; c&eacute;r&eacute;brale dans le cerveau foetal humain : une &eacute;tude de M. tractography.

Zerebrale axonale Verbindungen beginnen, vor der Geburt w&auml;hrend der radialen Migration in jedem Bereich des Gehirns zu entwickeln. Eine Reihe von Theorien sind immer noch aktiv &uuml;ber den Zusammenhang zwischen der neuronalen Migration, Entwicklung Konnektivit&auml;t und Gyrification diskutiert. Hier verwendet wir hohe Winkelaufl&ouml;sung Verbreitung Tractography Post mortem fetalen menschlichen Gehirnen (postconception Woche (W) 17-40), um die Regression radiale und tangentiale Organisation wahrscheinlich Migration Wege darstellen und die Entstehung der Corticocortical-Organisation und Gyrification zu dokumentieren. Die dominante radiale Organisation bei W17 allm&auml;hlich vermindert zun&auml;chst im dorsalen Parieto-Occipital und sp&auml;ter im ventralen Frontotemporale Regionen mit regionalen Variation: radiale Organisation mehr in den K&auml;mmen der Windungen als die tiefe Furchen beibehalten. Die dominante tangentiale Organisation das Lymphom Eminenz am W17 waren auch allm&auml;hlich Amtszeit sowie das Verschwinden von Lymphom Eminenz verschwunden. Ein paar unreife Langstrecken Verein Wege am W17 sichtbar waren, allm&auml;hlich Begriff zeigte. Kurzstrecken Corticocortical Traktate entstanden vor Gyrification in Regionen, wo die Furchen sp&auml;ter entwickelt. Unsere Ergebnisse legen nahe, dass die regionalen Regression radial Organisation und regionalen Entstehung des fetalen Gehirns Konnektivit&auml;t zu Anteroventral mit lokalen Variationen im Allgemeinen aus Posterodorsal verl&auml;uft.

Zerebrale Konnektivit&auml;t im menschlichen fetalen Gehirn entstehen: eine Studie von Herrn Tractography.

Connessioni assonali cerebrali cominciano a svilupparsi prima della nascita, durante la migrazione radiale in ogni area del cervello. Un certo numero di teorie &egrave; ancora attivamente dibattuto per quanto riguarda il legame tra migrazione neuronale, connettivit&agrave; in via di sviluppo e gyrification. Qui, abbiamo usato ad alta risoluzione angolare diffusione trattografia su cervelli umani fetali post-mortem (postconception settimana (W) 17-40) per documentare la regressione di radiali e tangenziali organizzazione probabilmente rappresentano percorsi di migrazione e l&#39;emergere di corticocortical organizzazione e gyrification. L&#39;organizzazione dominante radiale a W17 gradualmente diminuito prima nella dorsale parieto-occipitale e successivamente nelle regioni fronto-temporale ventrale con variazione regionale: organizzazione radiale pi&ugrave; persistenti nelle creste delle circonvoluzioni rispetto alle profondit&agrave; di sulci. L&#39;organizzazione dominante tangenziale dell&#39;eminenza ganglionica a W17 anche gradualmente scomparsi dal termine, insieme con la scomparsa dell&#39;eminenza ganglionica. Alcuni percorsi associazione immaturi a lungo raggio erano visibili a W17, gradualmente divenne evidente dal termine. Tratti a corto raggio corticocortical emersero prima della gyrification nelle regioni dove pi&ugrave; tardi svilupp&ograve; sulci. I nostri risultati suggeriscono che la regressione regionale di organizzazione radiale e regionale emersione della connettivit&agrave; del cervello fetale procede in generale da posterodorsal a anteroventral con variazioni locali.

Emergenti connettivit&agrave; cerebrale nel cervello fetale umano: uno studio del signor trattografia.

&#x8133;&#x306E;&#x8EF8;&#x7D22;&#x306E;&#x63A5;&#x7D9A;&#x306F;&#x3001;&#x8133;&#x306E;&#x5404;&#x90E8;&#x4F4D;&#x306B;&#x304A;&#x3051;&#x308B;&#x653E;&#x5C04;&#x72B6;&#x306E;&#x79FB;&#x884C;&#x4E2D;&#x306B;&#x51FA;&#x751F;&#x524D;&#x306B;&#x958B;&#x767A;&#x3092;&#x59CB;&#x3081;&#x307E;&#x3059;&#x3002;&#x3044;&#x304F;&#x3064;&#x304B;&#x306E;&#x7406;&#x8AD6;&#x306F;&#x307E;&#x3060;&#x7A4D;&#x6975;&#x7684;&#x306B;&#x795E;&#x7D4C;&#x79FB;&#x884C;&#x3001;&#x767A;&#x5C55;&#x9014;&#x4E0A;&#x306E;&#x63A5;&#x7D9A;&#x3001;&#x304A;&#x3088;&#x3073; gyrification &#x306E;&#x9593;&#x306E;&#x30EA;&#x30F3;&#x30AF;&#x306B;&#x95A2;&#x3059;&#x308B;&#x8A0E;&#x8AD6;&#x3055;&#x308C;&#x3066;&#x3044;&#x307E;&#x3059;&#x3002;&#x3053;&#x3053;&#x3067;&#x306F;&#x3001;&#x6211;&#x3005; &#x9AD8;&#x89D2;&#x5EA6;&#x5206;&#x89E3;&#x80FD;&#x62E1;&#x6563;&#x30C8;&#x30E9;&#x30AF;&#x30C8;&#x30B0;&#x30E9;&#x30D5;&#x30A3;&#x6B7B;&#x5F8C;&#x80CE;&#x5150;&#x4EBA;&#x9593;&#x306E;&#x8133; &#xFF08;postconception &#x9031; (W) 17-40&#xFF09; &#x306B;&#x30E9;&#x30B8;&#x30A2;&#x30EB;&#x304A;&#x3088;&#x3073;&#x30BF;&#x30F3;&#x30B8;&#x30A7;&#x30F3;&#x30B7;&#x30E3;&#x30EB;&#x30C1;&#x30EB;&#x30C8;&#x7D44;&#x7E54;&#x79FB;&#x884C;&#x7D4C;&#x8DEF;&#x3092;&#x8868;&#x3059;&#x53EF;&#x80FD;&#x6027;&#x304C;&#x9AD8;&#x3044;&#x306E;&#x56DE;&#x5E30;&#x3068;&#x76AE;&#x8CEA;&#x7D44;&#x7E54;&#x3068; gyrification &#x306E;&#x51FA;&#x73FE;&#x3092;&#x6587;&#x66F8;&#x5316;&#x3059;&#x308B;&#x306E;&#x306B;&#x4F7F;&#x7528;&#x3002;W17 &#x3067;&#x652F;&#x914D;&#x7684;&#x306A;&#x653E;&#x5C04;&#x72B6;&#x7D44;&#x7E54;&#x306F;&#x5F90;&#x3005; &#x306B;&#x6700;&#x521D;&#x80CC;&#x982D;&#x9802;&#x5F8C;&#x982D;&#x3068;&#x5F8C;&#x306E;&#x5730;&#x57DF;&#x5DEE;&#x3068;&#x8179;&#x5074;&#x306E;&#x524D;&#x982D;&#x9818;&#x57DF;&#x3067;&#x6E1B;&#x5C11;: &#x653E;&#x5C04;&#x72B6;&#x7D44;&#x7E54;&#x304C;&#x6C38;&#x7D9A;&#x5316;&#x3001;&#x3082;&#x306F;&#x3084;&#x306E;&#x6E9D;&#x306E;&#x6DF1;&#x3055;&#x3067;&#x3088;&#x308A;&#x3082;&#x8133;&#x56DE;&#x7D0B;&#x3067;&#x3002;&#x30A4;&#x30BB;&#x30A8;&#x30D3;&#x306E;&#x30A8;&#x30DF;&#x30CD;&#x30F3;&#x30B9; W17 &#x3067;&#x306E;&#x652F;&#x914D;&#x7684;&#x306A;&#x63A5;&#x7DDA;&#x7D44;&#x7E54;&#x3082;&#x5F90;&#x3005; &#x306B;&#x30A4;&#x30BB;&#x30A8;&#x30D3;&#x306E;&#x9686;&#x8D77;&#x306E;&#x6D88;&#x5931;&#x3068;&#x5171;&#x306B;&#x7528;&#x8A9E;&#x3067;&#x59FF;&#x3092;&#x6D88;&#x3057;&#x305F;&#x3002;&#x3044;&#x304F;&#x3064;&#x304B;&#x306E;&#x672A;&#x719F;&#x306A;&#x9577;&#x8DDD;&#x96E2;&#x5354;&#x4F1A;&#x7D4C;&#x8DEF;&#x306F; W17 &#x3067;&#x8868;&#x793A;&#x3055;&#x308C;&#x3066;&#x3044;&#x305F;&#x3001;&#x8A00;&#x8449;&#x306B;&#x3088;&#x3063;&#x3066;&#x5F90;&#x3005; &#x306B;&#x660E;&#x3089;&#x304B;&#x306B;&#x306A;&#x3063;&#x305F;&#x3002;&#x77ED;&#x8DDD;&#x96E2;&#x5149;&#x8DEF;&#x306E;&#x6E9D;&#x304C;&#x305D;&#x306E;&#x5F8C;&#x958B;&#x767A;&#x5730;&#x57DF;&#x306E; gyrification &#x306E;&#x524D;&#x306B;&#x73FE;&#x308C;&#x305F;&#x3002;&#x653E;&#x5C04;&#x72B6;&#x7D44;&#x7E54;&#x306E;&#x5730;&#x65B9;&#x56DE;&#x5E30;&#x3068;&#x80CE;&#x5150;&#x306E;&#x982D;&#x8133;&#x306E;&#x7D50;&#x5408;&#x6027;&#x306E;&#x5730;&#x57DF;&#x51FA;&#x73FE;&#x4E00;&#x822C;&#x7684;&#x306B; posterodorsal &#x304B;&#x3089;&#x30ED;&#x30FC;&#x30AB;&#x30EB;&#x306E;&#x30D0;&#x30EA;&#x30A8;&#x30FC;&#x30B7;&#x30E7;&#x30F3;&#x3092;&#x6301;&#x3064;&#x524D;&#x306B;&#x9032;&#x3080;&#x3053;&#x3068;&#x304C;&#x793A;&#x5506;&#x3055;&#x308C;&#x307E;&#x3057;&#x305F;&#x3002;

&#x4EBA;&#x9593;&#x306E;&#x80CE;&#x5150;&#x306E;&#x8133;&#x3067;&#x8133;&#x306E;&#x63A5;&#x7D9A;&#x3092;&#x65B0;&#x8208;: &#x6C0F;&#x306E;&#x30E9;&#x30AF;&#x30C8;&#x7814;&#x7A76;&#x3002;

&#xB300;&#xB1CC; axonal &#xC5F0;&#xACB0; &#xAC01; &#xB1CC; &#xC601;&#xC5ED;&#xC5D0; &#xBC29;&#xC0AC;&#xD615; &#xB9C8;&#xC774;&#xADF8;&#xB808;&#xC774;&#xC158; &#xC911; &#xCD9C;&#xC0DD; &#xD558;&#xAE30; &#xC804;&#xC5D0; &#xAC1C;&#xBC1C;&#xC744; &#xC2DC;&#xC791; &#xD569;&#xB2C8;&#xB2E4;. &#xB2E4;&#xC591; &#xD55C; &#xC774;&#xB860; &#xC544;&#xC9C1; &#xC801;&#xADF9;&#xC801;&#xC73C;&#xB85C; &#xC2E0;&#xACBD; &#xB9C8;&#xC774;&#xADF8;&#xB808;&#xC774;&#xC158;, &#xAC1C;&#xBC1C; &#xC5F0;&#xACB0; &#xBC0F; gyrification &#xC0AC;&#xC774;&#xC758; &#xC5F0;&#xACB0;&#xC5D0; &#xAD00;&#xD55C; &#xB17C;&#xC758;. &#xC5EC;&#xAE30;, &#xBC29;&#xC0AC;&#xD615; &#xBC0F; &#xC811;&#xC120; &#xC870;&#xC9C1; &#xB9C8;&#xC774;&#xADF8;&#xB808;&#xC774;&#xC158; &#xACBD;&#xB85C; &#xB098;&#xD0C0;&#xB0B4;&#xB294; &#xAC83;&#xC758; &#xD68C;&#xADC0; &#xBC0F; corticocortical &#xC870;&#xC9C1; &#xBC0F; gyrification&#xC758; &#xCD9C;&#xD604;&#xC744; &#xBB38;&#xC11C;&#xD654;&#xB97C; &#xC0AC;&#xD6C4; &#xD0DC;&#xC544; &#xC778;&#xAC04;&#xC758; &#xB450;&#xB1CC; (postconception &#xC8FC; (W) 17-40)&#xC5D0; &#xAC01;&#xB3C4; &#xACE0;&#xD574;&#xC0C1;&#xB3C4; &#xBCF4;&#xAE09; tractography &#xC0AC;&#xC6A9;. W17&#xC5D0;&#xC11C; &#xC9C0;&#xBC30;&#xC801;&#xC778; &#xBC29;&#xC0AC;&#xD615; &#xC870;&#xC9C1; &#xC810;&#xCC28;&#xC801;&#xC73C;&#xB85C; &#xC810;&#xAC10; &#xBA3C;&#xC800; &#xB4F1; &#xCABD; parieto-&#xB4A4; &#xD1B5; &#xC218;&#xC640; &#xC9C0;&#xC5ED; &#xD3B8;&#xCC28;&#xB294; &#xBCF5; &#xBD80; frontotemporal &#xC601;&#xC5ED;&#xC5D0;&#xC11C; &#xB098;&#xC911;: &#xBC29;&#xC0AC;&#xD615; &#xC870;&#xC9C1; &#xBCF4;&#xB2E4; gyri sulci&#xC758; &#xAE4A;&#xC774;&#xC5D0;&#xC11C; &#xBCCF;&#xC774;&#xC5D0; &#xB354; &#xC774;&#xC0C1; &#xC720;&#xC9C0;. W17&#xC5D0;&#xC11C; ganglionic &#xC608; &#xD558;&#xC758; &#xC9C0;&#xBC30;&#xC801;&#xC778; &#xC811;&#xC120; &#xC870;&#xC9C1; &#xC6A9;&#xC5B4;, ganglionic &#xC608; &#xD558;&#xC758; &#xC2E4;&#xC885;&#xACFC; &#xD568;&#xAED8; &#xC5EC;&#xB3C4; &#xC810;&#xCC28; &#xC0AC;&#xB77C;&#xC84C;&#xB2E4;. &#xC57D;&#xAC04; &#xBBF8; &#xC219; &#xC7A5;&#xAC70;&#xB9AC; &#xC5F0;&#xACB0; &#xD1B5;&#xB85C; w17&#xC5D0; &#xD45C;&#xC2DC; &#xD588;&#xB2E4;, &#xC6A9;&#xC5B4;&#xC5D0; &#xC758;&#xD574; &#xC810;&#xCC28; &#xBD84;&#xBA85; &#xD558; &#xAC8C; &#xB418;&#xC5C8;&#xB2E4;. &#xB2E8;&#xAC70;&#xB9AC; corticocortical &#xCC45;&#xC790; &#xC5B4;&#xB514; sulci &#xB098;&#xC911; &#xAC1C;&#xBC1C; &#xC9C0;&#xC5ED;&#xC5D0; gyrification &#xC804;&#xC5D0; &#xB4F1;&#xC7A5;. &#xC6B0;&#xB9AC;&#xC758; &#xACB0;&#xACFC; &#xBC29;&#xC0AC;&#xD615; &#xC870;&#xC9C1;&#xC758; &#xC9C0;&#xC5ED; &#xD68C;&#xADC0; &#xBC0F; &#xD0DC;&#xC544; &#xB450;&#xB1CC; &#xC5F0;&#xACB0;&#xC131;&#xC758; &#xC9C0;&#xC5ED; &#xCD9C;&#xD604; &#xC9C4;&#xD589; &#xC77C;&#xBC18;&#xC801;&#xC73C;&#xB85C; posterodorsal&#xC5D0;&#xC11C; anteroventral &#xC9C0;&#xC5ED; &#xBCC0;&#xC774; &#xAC00;&#xC9C4; &#xAC83;&#xC774; &#xC88B;&#xC2B5;&#xB2C8;&#xB2E4;.

&#xC778;&#xAC04;&#xC758; &#xD0DC;&#xC544; &#xB450;&#xB1CC;&#xC5D0; &#xB300;&#xB1CC; &#xC5F0;&#xACB0; &#xC2E0;&#xD765;: &#xBBF8;&#xC2A4;&#xD130; tractography &#xC5F0;&#xAD6C;.

Conexiones axonal cerebrales comienzan a desarrollarse antes del nacimiento durante la migraci&oacute;n radial en cada &aacute;rea del cerebro. Se debaten todav&iacute;a activamente una serie de teor&iacute;as sobre el v&iacute;nculo entre la migraci&oacute;n neuronal, conectividad en desarrollo y gyrification. Aqu&iacute;, utilizamos alta resoluci&oacute;n angular difusi&oacute;n tractograf&iacute;a en cerebros humanos fetales post mortem (semana postconception (W) 17-40) para documentar la regresi&oacute;n de la organizaci&oacute;n radial y tangencial que representan v&iacute;as de migraci&oacute;n y el surgimiento de la organizaci&oacute;n de corticocortical y gyrification. La organizaci&oacute;n radial dominante en W17 disminuido gradualmente primero en dorsal parieto-occipital y luego en las regiones frontotemporales ventral con variaci&oacute;n regional: organizaci&oacute;n radial ya persisti&oacute; en las crestas de las convoluciones que en las profundidades de los surcos. La organizaci&oacute;n dominante tangencial de la eminencia ganglionar en W17 desapareci&oacute; poco a poco por t&eacute;rmino, junto con la desaparici&oacute;n de la eminencia ganglionar. Unos caminos de asociaci&oacute;n a largo plazo inmaduros eran visibles en W17, poco a poco se hizo evidentes por t&eacute;rmino. Extensiones de corticocortical corto alcance surgieron antes de gyrification en las regiones donde m&aacute;s tarde desarrollaron surcos. Nuestros resultados sugieren que la regresi&oacute;n regional de organizaci&oacute;n radial y emergencia regional de Conectividad del cerebro del feto procede en general de posterodorsal a anteroventral con variaciones locales.

Emergentes de la conectividad cerebral en el cerebro fetal humano: un estudio del Se&ntilde;or tractograf&iacute;a.

THE COMBINATION OF ADVANCED NEUROIMAGING TECHNIQUES AND MAJOR DEVELOPMENTS IN COMPLEX NETWORK SCIENCE, HAVE GIVEN BIRTH TO A NEW FRAMEWORK FOR STUDYING THE BRAIN: "connectomics." This framework provides the ability to describe and study the brain as a dynamic network and to explore how the coordination and integration of information processing may occur. In recent years this framework has been used to investigate the developing brain and has shed light on many dynamic changes occurring from infancy through adulthood. The aim of this article is to review this work and to discuss what we have learned from it. We will also use this body of work to highlight key technical aspects that are necessary in general for successful connectome analysis using today's advanced neuroimaging techniques. We look to identify current limitations of such approaches, what can be improved, and how these points generalize to other topics in connectome research.

MR connectomics: a conceptual framework for studying the developing brain.

Missense mutations in TUBB3, the gene that encodes the neuronal-specific protein β-tubulin isotype 3, can cause isolated or syndromic congenital fibrosis of the extraocular muscles, a form of complex congenital strabismus characterized by cranial nerve misguidance. One of the eight TUBB3 mutations reported to cause congenital fibrosis of the extraocular muscles, c.1228G>A results in a TUBB3 E410K amino acid substitution that directly alters a kinesin motor protein binding site. We report the detailed phenotypes of eight unrelated individuals who harbour this de novo mutation, and thus define the 'TUBB3 E410K syndrome'. Individuals harbouring this mutation were previously reported to have congenital fibrosis of the extraocular muscles, facial weakness, developmental delay and possible peripheral neuropathy. We now confirm by electrophysiology that a progressive sensorimotor polyneuropathy does indeed segregate with the mutation, and expand the TUBB3 E410K phenotype to include Kallmann syndrome (hypogonadotropic hypogonadism and anosmia), stereotyped midface hypoplasia, intellectual disabilities and, in some cases, vocal cord paralysis, tracheomalacia and cyclic vomiting. Neuroimaging reveals a thin corpus callosum and anterior commissure, and hypoplastic to absent olfactory sulci, olfactory bulbs and oculomotor and facial nerves, which support underlying abnormalities in axon guidance and maintenance. Thus, the E410K substitution defines a new genetic aetiology for Moebius syndrome, Kallmann syndrome and cyclic vomiting. Moreover, the c.1228G>A mutation was absent in DNA from ∼600 individuals who had either Kallmann syndrome or isolated or syndromic ocular and/or facial dysmotility disorders, but who did not have the combined features of the TUBB3 E410K syndrome, highlighting the specificity of this phenotype-genotype correlation. The definition of the TUBB3 E410K syndrome will allow clinicians to identify affected individuals and predict the mutation based on clinical features alone.

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

Although there is growing awareness of the long-term cognitive effects of repetitive mild traumatic brain injury (rmTBI; eg, sports concussions), whether repeated concussions cause long-term cognitive deficits remains controversial. Moreover, whether cognitive deficits depend on increased amyloid β deposition and tau phosphorylation or are worsened by the apolipoprotein E4 allele remains unknown. Here, we use an experimental model of rmTBI to address these clinical controversies.

Clinical correlates in an experimental model of repetitive mild brain injury.

We present a detailed description of a set of FreeSurfer compatible segmentation guidelines tailored to infant MRI scans, and a unique data set of manually segmented acquisitions, with subjects nearly evenly distributed between 0 and 2 years of age. We believe that these segmentation guidelines and this dataset will have a wide range of potential uses in medicine and neuroscience.

A FreeSurfer-compliant consistent manual segmentation of infant brains spanning the 0-2 year age range.

Single-voxel spectroscopy (SVS) is usually used in the pediatric population when a short acquisition time is crucial. To overcome the long acquisition time of 3-D phase-encoded chemical shift imaging (CSI) and lack of spatial coverage of single-voxel spectroscopy, efficient encoding schemes using spiral k-space trajectories have been successfully deployed, enabling acquisition of volumetric CSI in <5 min. We assessed feasibility of using 3-D spiral CSI sequence routinely in pediatric clinical settings by comparing its reconstructed spectra against SVS spectra. Volumetric spiral CSI obtained spectra from 2-cc isotropic voxels over a 16×16×10-cm region. SVS acquisition encoded a 3.4-cc (1.5-mm) isotropic voxel. Acquisition time was 3 min for every technique. Data were gathered prospectively from 11 random pediatric patients. Spectra from left basal ganglia were obtained using both techniques and were processed with post-processing software. The following metabolite ratios were calculated: N-acetylaspartate/creatine (NAA/Cr), choline/creatine (Cho/Cr), lactate/creatine (Lac/Cr) and N-acetylapartate/choline (NAA/Cho). We collected data on 11 children ages 4 days to 10 years. In 10/11 cases, spectral quality of both methods was acceptable. Considering 10/11 cases, we found a statistically significant difference between SVS and 3-D spiral CSI for all three ratios. However, this difference was fixed and was probably caused by a fixed bias. This means that 3-D spiral CSI can be used instead of SVS by removing the mean difference between the methods for each ratio. Accelerated 3-D CSI is feasible in pediatric patients and can potentially substitute for SVS.

Comparison of accelerated 3-D spiral chemical shift imaging and single-voxel spectroscopy at 3T in the pediatric age group.

We describe the brain magnetic resonance imaging (MRI) abnormalities and neuropathologic findings of patients with Sturge-Weber syndrome and medically refractory epilepsy.

Article	Year
Progressive multifocal cystlike cortical tubers in tuberous sclerosis complex: Clinical and neuropathologic findings. Epilepsia\| PubMed ID: 19624715	2009
Emerging cerebral connectivity in the human fetal brain: an MR tractography study. Cerebral cortex (New York, N.Y. : 1991)\| PubMed ID: 21670100	2012
MR connectomics: a conceptual framework for studying the developing brain. Frontiers in systems neuroscience\| PubMed ID: 22707934	2012
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. Brain : a journal of neurology\| PubMed ID: 23378218	2013
Clinical correlates in an experimental model of repetitive mild brain injury. Annals of neurology\| PubMed ID: 23922306	2013
A FreeSurfer-compliant consistent manual segmentation of infant brains spanning the 0-2 year age range. Frontiers in human neuroscience\| PubMed ID: 25741260	2015
Comparison of accelerated 3-D spiral chemical shift imaging and single-voxel spectroscopy at 3T in the pediatric age group. Pediatric radiology\| PubMed ID: 25824958	2015
Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings. Pediatric neurology\| PubMed ID: 26706049	2016

Patricia E. Grant

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