Genética molecular do hipotireoidismo congênito

O hipotireoidismo congênito (HC) ocorre, mundialmente, em 1/3000-4000 neonatos e pode ser classificado em permanente ou transitório. O HC primário é responsável pela maioria dos afetados, enquanto o secundário e terciário são raros. Nos países iodo-suficientes, a disgenesia tireóidea (DT) é a causa mais freqüente de HC. Os defeitos hereditários da síntese hormonal ocorrem em minoria de crianças portadoras de HC. Fatores ambientais, genéticos e auto-imunes concorrem na etiologia do HC, mas na maioria dos casos de DT a causa é obscura. Atribui-se aos genes envolvidos na ontogenia da glândula tireóidea, como os fatores de transcrição TITF1, TITF2, PAX-8 e receptor de TSH (TSHR), função patogenética na DT. Até o momento não foi descrita anormalidade no gene TITF1 como causa de HC, enquanto foram identificadas mutações no PAX-8 em cinco recém-nascidos com DT. Embora não envolvidas na DT, mutações inativadoras do TSHR podem produzir espectro de defeitos congênitos oscilando entre hipertirotropinemia com eutireoidismo e hipotireoidismo com hipoplasia glandular. A clonagem dos genes envolvidos na biossíntese dos hormônios tireóideos, como o da tireoperoxidase (TPO) e tireoglobulina (Tg), permitiu a identificação de mutações responsáveis por alguns casos de bócio e hipotireoidismo decorrente de defeito de incorporação de iodeto ou anormalidades na síntese de Tg. Recentemente, foi demonstrada a base molecular do defeito de transporte ativo de iodeto e da síndrome de Pendred, respectivamente, devidas a mutações no gene NIS (simportador de sódio e iodeto) e no gene PDS (pendrina). em conclusão, grande parte dos pacientes com HC e DT não tem esclarecida, ainda, a causa molecular desta síndrome.

Aspectos genéticos do hipotireoidismo congênito

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

1.° Tractatus pacis inter Ludovicum IX. Regem Francorum, et Henricum III. Regem Angliae : anno 1259. — 2.° Tractatus pacis inter Philippum III. Regem Francorum, et Edwardum I. Regem Angliae : anno 1279. — 3.° Tractatus pacis inter eosdem Reges : anno 1286. — 4.° Quarta et ultima pax facta inter Reges : anno 1303. translata de romancio in latinum, de verbo ad verbum. — 5.° Alia concordantia, seu compositio vel pax inter Reges : anno 1303. — 6.° Pronunciatio Bonifacii, Papae, super pacibus : anno pontificatus quarto. — 7.° De remediis Aquitanorum adversùs vexationem curiae Regis Franciae. — 8.° Copia arresti contra Arnaldum de Romynhano, dati anno 1312. — 9.° Variae litterae Philippi Pulchri et Ludovici X. de rebus Anglicis. — 10.° Bulla Clementis, Papae V. approbans donationem Motae et domorum de Pessaco, factam ecclesiae Burdegalensi à nobili viro Gaillardo de Guto, germano suo, anno primo pontificatus. — 11.° Traitté de paix conclu entre les Rois Philippe et Edouard ; sans date. — 12.° Lettres de Charles IV. Roy de France et de Navarre, touchant les excès commis au lieu de Saint-Sacerdos par le Senechal de Gascogne : l'an 1324. — 13.° Traitté entre la France et l'Angleterre : en la même année. — 14.° Judicium latum apud Oleronem, anno 1287. per D. Norwicensem Episcopum, contra D. Joannem de Greilliaco, dudum Senescallum Vasconiae. — 15.° Tractatus matrimonii inter Alienoram filiam Edwardi Regis Angliae, et Alphonsum filium majorem Petri Regis Aragonum. — 16.° Litterae Petri, Regis Aragonum, de matrimonio filii sui Alphonsi cum Alienora, filia primogenita Regis Edwardi. — 17.° Joannis XXII. bulla contra Michaëlem de Cesena, Ministrum generalem ordinis Minorum : VIII. idus Junii, pontificatus anno XII. — 18.° Edwardi, Regis Anglorum, constitutiones variae ad Aquitaniam spectantes et ad Angliam. — 19.° Traitté de paix entre les Rois de France et d'Angleterre, fait en l'an 1325. — 20.° Litterae Agennensium ad Carolum IV. Regem Franciae, pro Rege Angliae, nominatim de facto Sancti-Sacerdotis, scriptae anno 1324. — 21.° Tractatus matrimonii inter Alphonsum, Regem Castellae et Legionis, et Alienoram, filiam Edwardi Regis Angliae ; item alius inter Edwardum, Regis Angliae primogenitum, et Alienoram sororem Regis Castellae : anno 1325. — 22.° Instructions données par le Roy d'Angleterre à ses Ambassadeurs allans en Espagne pour le fait dudit mariage. — 23.° Abusiones quae exercentur in regno Angliae circa beneficia ecclesiastica ; et remedia sine quibus nunquam cessare creduntur. — 24.° Clementis V. bulla de saecularisatione monasterii de sancto Aemiliano, in dioecesi Burdigalensi ; data anno pontificatus quinto. — 25.° Litterae Edwardi II. Regis Angliae, de servanda pace facta cum Carolo IV. Rege Franciae. — 26.° Ejusdem litterae quibus Edmundum, Comitem Cantiae, fratrem suum, constituit Capitaneum in Ducatu Aquitaniae. — 27.° Lettres de Charles IV. Roy de France, contre le Roy d'Angleterre, qui refusoit de luy faire les foy et hommage pour la Duché d'Aquitaine : de l'année 1324. — 28.° Litterae ejusdem Caroli IV. Regis Francorum, de eadem re ; quibus Carolo, Comiti Valesiae, patruo suo, dat potestatem puniendi rebelles Aquitaniae ; datae anno 1324. — 29.° Litterae ejusdem de salvagardia Guillelmi Galteri, Clerici, datae anno 1323. — 30.° Ejusdem litterae pro Margareta de Guouda, tutrice Pontii domini de Castellione, filii sui, datae anno 1323. — 31.° Ejusdem litterae pro Comitissa Fuxi et Vicecomitissa Bearni et Marciani, tutrice Gastonis filii sui ; datae anno 1322. — 32.° Litterae Antonini Pessaigne, Senescalli Ducatus Aquitaniae, quibus Ostencium Jordani, Clericum ac Jurisperitum, constituit suum et Regis Angliae Procuratorem ; datae anno 1318. — 33.° Litterae Almarici domini de Credonio, Senescalli Ducatus Aquitaniae, quibus Roberto de la Vertadausa, Anglico, decem libras Turonensium parvorum singulis annis solvendas concedit vice et nomine Regis Angliae ; datae anno 1322. — 34.° Divers actes entre les Rois de France et d'Angleterre, pour assurer la paix ; faits depuis l'an 1259. jusques en 1323. — 35.° Acta processus habiti in curia Romana inter capitulum ecclesiae Coventrensis et capitulum ecclesiae Lichefeldiensis de electione Episcopi, tempore Joannis XXII. — 36.° Traitté d'alliance et de confederation entre la France et l'Ecosse contre l'Angleterre ; fait en 1325. — 37.° Articuli exhibiti à Procuratore ecclesiae Lichfeldensis. — 38.° Articuli exhibiti à Procuratore ecclesiae Coventrensis. — 39.° Joannis XXII. bulla de unione Episcopatuum Corkagiensis et Clonensis, data Avenione anno pontificatus XI. — 40.° Acta processus apud eumdem Papam agitati super praebenda sancti Stephani in ecclesia Beverlacensi.

Colbertinus

Pax : los operarios de Astorga : memoria agradecida

Expone la labor docente y ministerial de dos presb??teros diocesanos de Astorga. Han recibido m??ltiples reconocimientos por su labor a la cultura leonesa y defensa en??rgica del patrimonio eclesi??stico as?? como de las tradiciones de la ciudad astorgana as?? como de su di??cesis.

Jornada europea de estudios de 'Pax Romana'.

Análisis de las acontecido en la Jornada europea de estudios de 'Pax Romana' celebrada durante el mes de abril de 1952 en Salzburgo, Austria, organizada por el Movimiento Internacional de Intelectuales Católicos de 'Pax romana', sobre el tema: 'Los derechos de los padres en relación con la escuela'. Algunas de las conclusiones a las que se llegaron, se resumen en los siguientes puntos: 1. El niño tiene derecho a una educación completa, al desarrollo integral de su personalidad. 2. La familia tiene el derecho y deber de llevar a cabo la procreación. 3. La Iglesia debe llevar a cabo las obras del bautismo, la educación moral y religiosa. 4. El Estado debe proteger los derechos del niño; promover la instrucción y educación y velar sobre la escuela. 5. La escuela tiene derecho a la libertad necesaria para el desarrollo de su existencia y libre ejercicio de su función. 6. La escuela no oficial tiene el derecho de representación sobre temas relacionados con ella. 7. La familia tiene el derecho de poder escoger entre la escuela oficial y la privada. 8. La familia tiene derecho a exigir una equitativa distribución de los fondos públicos, cualquiera que sea la escuela que frecuenten sus hijos.

Pax gene expression in the developing central nervous system of Ciona intestinalis

We compare the expression patterns in Ciona intestinalis of three members of the Pax gene family, CiPax3/7, CiPax6 and Cipax2/5/8. All three genes are expressed in restricted patterns in the developing central nervous system. At the tailbud stage, CiPax3/7 is present in three patches in the brain and along the posterior neural tube, CiPax6 throughout the anterior brain and along the posterior neural tube and CiPax2/5/8 in a restricted region of the posterior brain. Double in situ hybridisations were used to identify areas of overlap between the expression of different genes. This showed that CiPax3/7 overlaps with the boundaries of CiPax6 expression in the anterior brain, and with CiPax2/5/8 in the posterior brain. The overlap between CiPax3/7 and CiPax2/5/8 is unlike that described in the ascidian Halocynthia rorezti. (C) 2003 Elsevier B.V. All rights reserved.

Evolution of paired domains: Isolation and sequencing of jellyfish and hydra Pax genes related to Pax-5 and Pax-6

Pax proteins are a family of transcription factors with a highly conserved paired domain; many members also contain a paired-type homeodomain and/or an octapeptide. Nine mammalian Pax genes are known and classified into four subgroups: Pax-1/9, Pax-2/5/8, Pax-3/7, and Pax-4/6. Most of these genes are involved in nervous system development. In particular, Pax-6 is a key regulator that controls eye development in vertebrates and Drosophila. Although the Pax-4/6 subgroup seems to be more closely related to Pax-2/5/8 than to Pax-3/7 or Pax-1/9, its evolutionary origin is unknown. We therefore searched for a Pax-6 homolog and related genes in Cnidaria, which is the lowest phylum of animals that possess a nervous system and eyes. A sea nettle (a jellyfish) genomic library was constructed and two pax genes (Pax-A and -B) were isolated and partially sequenced. Surprisingly, unlike most known Pax genes, the paired box in these two genes contains no intron. In addition, the complete cDNA sequences of hydra Pax-A and -B were obtained. Hydra Pax-B contains both the homeodomain and the octapeptide, whereas hydra Pax-A contains neither. DNA binding assays showed that sea nettle Pax-A and -B and hydra Pax-A paired domains bound to a Pax-5/6 site and a Pax-5 site, although hydra Pax-B paired domain bound neither. An alignment of all available paired domain sequences revealed two highly conserved regions, which cover the DNA binding contact positions. Phylogenetic analysis showed that Pax-A and especially Pax-B were more closely related to Pax-2/5/8 and Pax-4/6 than to Pax-1/9 or Pax-3/7 and that the Pax genes can be classified into two supergroups: Pax-A/Pax-B/Pax-2/5/8/4/6 and Pax-1/9/3/7. From this analysis and the gene structure, we propose that modern Pax-4/6 and Pax-2/5/8 genes evolved from an ancestral gene similar to cnidarian Pax-B, having both the homeodomain and the octapeptide.

Vibrational spectroscopy of phthalocyanine and naphthalocyanine in sandwich-type (na)phthalocyaninato and porphyrinato rare earth complexes: Part 14. The infrared and Raman characteristics of phthalocyanine in “pinwheel-like” homoleptic bis[1,8,15,22-tetrakis(3-pentyloxy)phthalocyaninato] rare earth(III) double-decker complexes

The infrared (IR) spectroscopic data and Raman spectroscopic properties for a series of 13 “pinwheel-like” homoleptic bis(phthalocyaninato) rare earth complexes M[Pc(α-OC5H11)4]2 [M = Y and Pr–Lu except Pm; H2Pc(α-OC5H11)4 = 1,8,15,22-tetrakis(3-pentyloxy)phthalocyanine] have been collected and comparatively studied. Both the IR and Raman spectra for M[Pc(α-OC5H11)4]2 are more complicated than those of homoleptic bis(phthalocyaninato) rare earth analogues, namely M(Pc)2 and M[Pc(OC8H17)8]2, but resemble (for IR) or are a bit more complicated (for Raman) than those of heteroleptic counterparts M(Pc)[Pc(α-OC5H11)4], revealing the decreased molecular symmetry of these double-decker compounds, namely S8. Except for the obvious splitting of the isoindole breathing band at 1110–1123 cm−1, the IR spectra of M[Pc(α-OC5H11)4]2 are quite similar to those of corresponding M(Pc)[Pc(α-OC5H11)4] and therefore are similarly assigned. With laser excitation at 633 nm, Raman bands derived from isoindole ring and aza stretchings in the range of 1300–1600 cm−1 are selectively intensified. The IR spectra reveal that the frequencies of pyrrole stretching and pyrrole stretching coupled with the symmetrical CH bending of –CH3 groups are sensitive to the rare earth ionic size, while the Raman technique shows that the bands due to the isoindole stretchings and the coupled pyrrole and aza stretchings are similarly affected. Nevertheless, the phthalocyanine monoanion radical Pc′− IR marker band of bis(phthalocyaninato) complexes involving the same rare earth ion is found to shift to lower energy in the order M(Pc)2 > M(Pc)[Pc(α-OC5H11)4] > M[Pc(α-OC5H11)4]2, revealing the weakened π–π interaction between the two phthalocyanine rings in the same order.

8-Ammonionaphthalene-2-sulfonate monohydrate : the zwitterionic hydrate of 1,7-Cleve's acid

The structure of 8-amino-2-naphthalenesulfonic acid monohydrate (1,7-Cleve's acid hydrate), C10H9NO3S.H2O, shows the presence of a sulfonate-aminium group zwitterion, both groups and the water molecule of solvation giving cyclic R3/3(8) intermolecular hydrogen-bonding interactions forming chains which extend down a axis of the unit cell. Additional peripheral associations, including weak aromatic ring pi-pi interactions [centroid-centroid distance 3.6299(15)A], result in a two-dimensional sheet structure.

Raman spectroscopic study of the uranyl sulphate mineral jáchymovite (UO2)8(SO4)(OH)14•13H2O

Raman spectra of jáchymovite, (UO2)8(SO4)(OH)14•13H2O, were studied, complemented with infrared spectra, and compared with published Raman and infrared spectra of uranopilite, [(UO2)6(SO4)O2(OH)6(H2O)6] •6H2O. Bands related to the stretching and bending vibrations of (UO2)2+, (SO4)2-, (OH)- and water molecules were assigned. U-O bond lengths in uranyl and O-H…O hydrogen bond lengths were calculated from the Raman and infrared spectra.

Year 8, 9 and 10 students’ understanding and access of percent knowledge

This paper reports on Years 8, 9 and 10 students’ knowledge of percent problem types, use of diagrams, and type of solution strategy. Non- and semi-proficient students displayed the expected inflexible formula approach to solution but proficient students used a flexible mixture of estimation, number sense and trial and error instead of expected schema based methods.

A comparison of executive function in very preterm and term infants at 8 months corrected age

Executive function (EF) emerges in infancy and continues to develop throughout childhood. Executive dysfunction is believed to contribute to learning and attention problems in children at school age. Children born very preterm are more prone to these problems than their full-term peers.

Crystallographic characterization of the first reported crystalline form of the potent hallucinogen (R)-2-amino-1-(8-bromobenzo[1,2-b;5,4-b']difuran-4-yl)propane or `bromodragonfly': the 1:1 anhydrous proton-transfer compound with 3,5-dinitrosalicylic acid

The 1:1 proton-transfer compound of the potent substituted amphetamine hallucinogen (R)-1-(8-bromobenzo[1,2-b; 4,5-b']difuran-4-yl)-2-aminopropane (common trivial name 'bromodragonfly') with 3,5-dinitrosalicylic acid, 1-(8-bromobenzo[1,2-b;4,5-b']difuran-4-yl)-2-mmoniopropane 2-carboxy-4,6-dinitrophenolate, C13H13BrNO2+ C7H3N2O7- forms hydrogen-bonded cation-anion chain substructures comprising undulating head-to-tail anion chains formed through C(8) carboxyl O-H...O(nitro) associations and incorporating the aminium groups of the cations. The intra-chain cation-anion hydrogen-bonding associations feature proximal cyclic R33(8) interactions involving both a N+-H...O(phenolate) and the carboxyl O--H...O(nitro)associations. Also present are aromatic pi-pi ring interactions [minimum ring centroid separation, 3.566(2)A; inter-plane dihedral angle, 5.13(1)deg]. A lateral hydrogen-bonding interaction between the third aminium proton and a carboxyl O acceptor link the chain substructures giving a two-dimensional sheet structure. This determination represents the first of any form of this compound and confirms that it has the (R) absolute configuration. The atypical crystal stability is attributed both to the hydrogen-bonded chain substructures provided by the anions, which accommodate the aminium proton-donor groups of the cations and give cross-linking, and to the presence of cation--anion aromatic ring pi-pi interactions.