Thesis (D.M.A.)--University of North Texas, 2005. / System requirements: Adobe Acrobat Reader. Accompanied by 4 recitals, recorded Oct. 11, 1999, Apr. 16, 2001, Apr. 25, 2003, and Mar. 21, 2005. Includes bibliographical references (p. 44-48).

The goal of this thesis is to study the use of the Kantorovich-Rubinstein distance as to build a descriptor of sample complexity in classification problems. The idea is to use the fact that the Kantorovich-Rubinstein distance is a metric in the space of measures that also takes into account the geometry and topology of the underlying metric space. We associate to each class of points a measure and thus study the geometrical information that we can obtain from the Kantorovich-Rubinstein distance between those measures. We show that a large Kantorovich-Rubinstein distance between those measures allows to conclude that there exists a 1-Lipschitz classifier that classifies well the classes of points. We also discuss the limitation of the Kantorovich-Rubinstein distance as a descriptor.

A Síndrome de Rubinstein-Taybi foi primeiramente descrita em 1963 pelos médicos Jack Rubinstein & Hooshang Taybi e está relacionada à microdeleção cromossômica na região 16p13. Suas principais características são retardo mental baixa estatura, nariz pontudo, polegares largos e angulados e problemas cardíacos. As características bucais têm sido relatadas na literatura através de casos esporádicos e incluem retrognatia, palato fendido, má-formação e apinhamento dentário. Foram estudadas as características clínicas de relevância para a odontologia, de 13 pacientes portadores da SRT que procuraram o CAPE para tratamento odontológico do período de 1998 a 2004. O manejo clínico do paciente em ambulatório foi possível na maioria dos casos apesar do comprometimento intelectual. As manifestações bucais mais frequentemente encontradas foram: gengivite e periodontite, ptose do palato mole e presença de palato ogival, malformação dos dentes incisivos laterais superiores, e alterações oclusais como retrusão mandibular e mordida cruzada posterior. Foi salientada a importância do cirurgião dentista conhecer as implicações da síndrome para que possa previní-las através de orientação aos cuidadores e intervenções precoces, especialmente no que se refere à ortodontia e periodontia. / The Rubinstein-Taybi syndrome was first report in 1963 by Jack Rubinstein and Hooshang Taybi and it’s related with the chromossomal microdelection in the region 16p13. The main characteristics are mental retardation, low stature, pointed nose, broad thumbs and toes and cardiac alterations. The buccal characteristics are reported in the literature by sporadic cases and includes retrognathia, fissured palate and dental malformation. It was studied the clinical characteristics with significance for the dentistry in 13 patients with RTS that seek treatment at the Special Care Dentristy Center during the period from 1998 to 2004. The ambulatorial clinical attendance was possible in the majority cases although the intelectual compromissing. The buccal manifestations frequently found were gingivitis and periodontitis, soft palate ptosis and ogival palate, talon cusps and oclusal alterations, like mandibular retrusion and posterior crossbite. It was accentuated the importance for the dentristry to know the implications from the syndrome to prevent them through directions for the relatives and previous interventions, especially orthodontics and periodontics.

A Síndrome de Rubinstein-Taybi foi primeiramente descrita em 1963 pelos médicos Jack Rubinstein & Hooshang Taybi e está relacionada à microdeleção cromossômica na região 16p13. Suas principais características são retardo mental baixa estatura, nariz pontudo, polegares largos e angulados e problemas cardíacos. As características bucais têm sido relatadas na literatura através de casos esporádicos e incluem retrognatia, palato fendido, má-formação e apinhamento dentário. Foram estudadas as características clínicas de relevância para a odontologia, de 13 pacientes portadores da SRT que procuraram o CAPE para tratamento odontológico do período de 1998 a 2004. O manejo clínico do paciente em ambulatório foi possível na maioria dos casos apesar do comprometimento intelectual. As manifestações bucais mais frequentemente encontradas foram: gengivite e periodontite, ptose do palato mole e presença de palato ogival, malformação dos dentes incisivos laterais superiores, e alterações oclusais como retrusão mandibular e mordida cruzada posterior. Foi salientada a importância do cirurgião dentista conhecer as implicações da síndrome para que possa previní-las através de orientação aos cuidadores e intervenções precoces, especialmente no que se refere à ortodontia e periodontia. / The Rubinstein-Taybi syndrome was first report in 1963 by Jack Rubinstein and Hooshang Taybi and it’s related with the chromossomal microdelection in the region 16p13. The main characteristics are mental retardation, low stature, pointed nose, broad thumbs and toes and cardiac alterations. The buccal characteristics are reported in the literature by sporadic cases and includes retrognathia, fissured palate and dental malformation. It was studied the clinical characteristics with significance for the dentistry in 13 patients with RTS that seek treatment at the Special Care Dentristy Center during the period from 1998 to 2004. The ambulatorial clinical attendance was possible in the majority cases although the intelectual compromissing. The buccal manifestations frequently found were gingivitis and periodontitis, soft palate ptosis and ogival palate, talon cusps and oclusal alterations, like mandibular retrusion and posterior crossbite. It was accentuated the importance for the dentristry to know the implications from the syndrome to prevent them through directions for the relatives and previous interventions, especially orthodontics and periodontics.

Der bedeutende russische Pianist, Dirigent, Komponist, Musikpublizist, Initiator, Gründer und langjähriger Leiter des St. Petersburger Konservatoriums Anton Grigorjewitsch Rubinstein (1829-1894) weilte mehrfach in Dresden. In den Jahren 1893 bis 1894 nahm er hier seinen Wohnsitz, und in der Residenzstadt an der Elbe schuf er einige seiner letzten Kompositionen.

The topic of the thesis is devided into three parts. In the first part I am describing marketing and brand theoretically and cosmetics market in general. In the second part I am analyzing the strategy of the Helena Rubinstein brand worldwide. Third part concentrates on Helena Rubinstein brand on the Czech market.

Thesis (Ph. D.)--Johannes Gutenberg-Universität, Mainz, 1995. / Includes bibliographical references (p. 280-288).

Anton Rubinstein was primarily recognized as one of the greatest pianists of his time. However, Rubinstein yearned for recognition as a composer and worked prodigiously to realize that goal. Unfortunately, Rubinstein's works were virtually unknown today. One of Rubinstein's finest compositions, the Piano Concerto in D Minor, op. 70 has been the most frequently performed. It is one of the first "Russian" concertos that was written by a Russian composer, and was performed in Russian concert halls instead of the homes of Russian aristocracy. It is also considered the most successful and harmonious convergent of various musical styles which influenced Rubinstein. However, there is no formal, detailed analysis of the Concerto in the entire music literature. Therefore, the main purpose of this dissertation is to provide a thorough study of the Concerto from an analytical and historical standpoint. Rubinstein was also one of the most eminent educators in Russia. The St. Petersburg Conservatory of Music, which Rubinstein helped found in 1862, has to this day produced some of the most influential musicians in Russia. The other purpose of this dissertation is to evaluate Rubinstein's role as music educator. An overview of Rubinstein's works for piano and orchestra offers a general idea of his compositional style. Literature on Anton Rubinstein currently available is limited. The two most valuable primary sources are Rubinstein's Autobiography of Anton Rubinstein, and Rubinstein's A Conversation on Music. Jeremy Norris's The Russian Piano Concerto, Volume I: The Nineteenth Century provides an insightful but short analysis on the Concerto. Sources discussing Anton Rubinstein as a pianist and an educator are relatively plentiful. Larry Sitsky's Anton Rubinstein: Annotated Catalog of Piano Works and Biography is an excellent work on Rubinstein's piano works. This dissertation includes four chapters: Chapter 1 - Introduction Chapter 2 - Rubinstein's works for piano and orchestra Chapter 3 - Piano Concerto No. 4 in D Minor, Op. 70 Chapter 4 - Conclusion.

INTRODUÇÃO: A Síndrome de Rubinstein-Taybi (RTS) é uma doença genética rara, caracterizada por dismorfismos craniofaciais típicos, polegares e háluces alargados, deficiência mental e baixa estatura. A incidência estimada é de 1: 125 000 a 1: 330000 nativivos. A SRT geralmente ocorre esporadicamente, mas pode ser herdada com um padrão de herança autossômico dominante. O diagnóstico da SRT é essencialmente clínico. OBJETIVOS: Realizar o estudo genético-clínico e citogenético em 30 pacientes brasileiros com SRT, e descrever de forma sistematizada a freqüência de dismorfismos faciais e malformações múltiplas encontradas. MÉTODOS: Neste estudo observacional retrospectivo e prospectivo, os pacientes foram seguidos no período de agosto de 2005 a junho de 2009. O cariótipo com bandeamento G foi realizado em todos os pacientes. RESULTADOS: A maioria dos pacientes avaliados foi do sexo feminino (60%). As seguintes características foram observadas em todos os pacientes da nossa casuística: atraso de desenvolvimento neuropsicomotor, ponta nasal voltada para baixo, columela proeminente, sorriso característico, dificuldades alimentares na infância, persistência dos coxins fetais, falanges distais dos polegares alargadas e pés planos. A baixa estatura e a microcefalia foi observada em 80% e 76% dos casos, respectivamente. As principais características craniofaciais observadas foram: fronte proeminente (86%), ponte nasal larga (60%), hipertelorismo (70%), sobrancelhas espessas e arqueadas (96%) cílios longos em 93%, prega epicântica (76%), fissura palpebral infra vertidas (76%), abertura bucal estreita (93%), retrognatismo (76 %), sorriso característico em 100%, palato alto e estreito (93%), anomalias dentárias (83%). Outras anomalias identificadas foram: estrabismo, erros de refração, obstrução do canal lacrimal, háluces e polegares alargados, angulação de polegares, anomalias do pavilhão auricular (rotação/posição/tamanho/forma), angulação do hálux, clinodactilia, sobreposição dos pododáctilos, falanges distais alargadas de outros dedos, marcha rígida, hipotonia, sopro cardíaco, cardiopatia congênita, criptoquidia, hemangioma plano e hipertricose. Uma paciente apresentou translocação recíproca de novo 46, XX, t (2; 16)(q36.3; p13.3). CONCLUSÕES: A raridade da SRT e o amplo espectro das manifestações clínicas pode atrasar o diagnóstico clínico. A média da idade ao diagnóstico dos nossos pacientes com SRT foi de três anos e oito meses. Todas as crianças devem receber avaliação por geneticista pediátrico, cardiologista, oftalmologista, neuropediatra, e odontopediatra / INTRODUCTION: Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder characterized by distinctive craniofacial dysmorphisms, broad thumbs and toes and mental and statural deficiency. The prevalence of RTS has been estimated to be 1 in 125000 to 1: 330000 live births. RTS usually occurs sporadically although it can be inherited as an autosomal dominant disorder. The diagnosis of RTS is primarily based on clinical features. OBJECTIVES: We performed a clinical and cytogenetic assay in a group of 30 Brazilian RTS patients. We also decribed the frequencies of facial dysmorphisms and multiple malformations. METHODS: In this observational retrospective and prospective study, the patients were followed from August 2005 to June 2009. Chromosomal analysis was performed by G-banding karyotype. RESULTS: Most of the patients were female (60%).The following abnormalities were present in all of the patients: delayed psychomotor development, beaked nose, proeminent collumel, typical facies, broad thumbs and toes, flat feet, joint laxity, feeding problems during the childhood, and finger pads. Short stature was present in 80%, and microcephalia in 76% of the cases, respectively. Main craniofacial characteristics are frontal bossing (86%), wide nasal bridge (60%), ocular hyperthelorism (70%), high arched eyebrows (96%), long eyelashes (93%), epicathal folds (76%), downslanting palpebral fissures (76%), small opening of the mouth (93%), retrognathism (76%), grimacing smile (100%), high arched palate (93%), and dental anomalies (83%). Other findings were: strabism, refractive error, lacrimal obstruction, wide thumb and halux, angulated thumbs, external ears anomalies (rotation, implantation and morfology), angulated halux, clinodactyly, crowded toes, broad distal falanges of other fingers, stiff gait, hipotonia, cardiac murmur, congenital heart defect, undescendent testis, hypertrichosis, and hemangioma. One female patient has found to have a reciprocal de novo translocation t(2;16)(q36.3;p13.3) on G-banding karyotype CONCLUSIONS: The rarity of RTS and the wide spectrum of clinical manifestations, may delay the clinical diagnosis of RTS. The average age at the diagnosis of our patients was 3 years and 8 months. All children of RTS should receive an evaluation by a pediatric geneticist, cardiologist, ophthalmologist, pediatric neurologist, and pediatric dentist

A Síndrome de Rubinstein-Taybi (RTSs) é uma doença rara de herança autossômica dominante, caracterizada por dismorfismos craniofaciais, polegares e háluces alargados, deficiência intelectual e de crescimento. RTSs tem sido associada com mutações no gene CREBBP (CBP) e mutações menos frequentes no gene EP300 que foram descritas em oito indivíduos. CBP e p300 possuem alta homologia e são extremamente importantes em várias vias de sinalização, principalmente como coativadores de transcrição e na acetilação das histonas. Nosso estudo baseou-se na análise de alterações moleculares por sequenciamento direto do CBP, FISH e array-CGH em 20 pacientes com RTSs. Dos 20 pacientes avaliados por sequenciamento direto foram identificadas oito alterações moleculares, dentre estas, seis são alterações moleculares novas as quais não foram descritas na literatura, são elas: i) duas deleções (p.M747fs STOP830 e p.G1011fs STOP1021) ii) duas alterações do tipo nonsense (p.Arg1341X, p.Arg1498X) iii) três do tipo missense (p.Arg1907Trp, p.Leu604Pro e p.His1291Arg). Também identificamos um polimorfismo de único nucleotídeo (SNP) (rs115594471/ c.5874CT). Dois pacientes apresentaram deleção do gene CBP em um dos alelos, identificado pelo método array-CGH. Outro, apresentou uma translocação aparentemente equilibrada t(2;16), cuja análise subsequente com FISH revelou uma quebra na região do CBP. Neste trabalho, a taxa de detecção de alteração molecular no CBP por sequenciamento direto foi de 40% (08/20). Porém, a taxa de detecção das alterações moleculares no CBP foi de 55% (11/20), considerando a combinação das diferentes técnicas utilizadas (FISH, sequenciamento direto e array-CGH). Não houve correlação genótipo-fenótipo, exceto por uma maior frequência da presença de epicanto nos pacientes com alteração no CBP. Os resultados obtidos neste trabalho servem como o diagnóstico molecular para os pacientes com RTSs atendidos no Ambulatório do Laboratório de investigação Médica 001 (ALIM 001) do Instituto da Criança - FMUSP, contribuindo para uma melhor orientação médica, como também para realização do aconselhamento genético às famílias / Rubinstein-Taybi syndrome (RTSs) is a rare autosomal dominant disease characterized by craniofacial dysmorphisms, broad thumbs and toes, mental and growth deficiency. RTS has been associated with CREBBP (CBP) gene mutations and less frequently with mutations in EP300 gene, which have been reported in eight individuals. CBP and p300 have high homology and are extremely important in many signaling pathways especially as transcriptional coactivators and histone acetylation. Our study was based on the alteration analysis by direct sequencing of the CBP, by FISH and array-CGH in 20 RTSs patients. We identified eight molecular alterations in 20 RTSs patients evaluated by direct sequencing: i) two deletions (p.M747fs STOP830 and p.G1011fs STOP1021) ii) two nonsense alterations (p.Arg1341X and p.Arg1498X) iii) Three missense alteration (p.Arg1907Trp, p.Leu604Pro and p.His1291Arg). Single-nucleotide polymorphism were also identified (rs115594471 / c.5874CT), and six of these are new molecular alterations, not described in literature. Two RTSs patients studied had CBP gene deletion in one allele, identified by array-CGH method. Other patient, presented with apparent balanced translocation t(2;16) in which the subsequent analysis using FISH, showed a break in region of CBP. In this work, the rate of detection of molecular alteration in CBP by direct sequencing in RTSs patient was 40.0% (08/20). However, the rate of detection of molecular alteration in CBP was 55.0% (11/20), considering the combination of different techniques (FISH, direct sequencing and array-CGH. No significant correlation could be established in this study between the different types of mutations and genotype-phenotype of RTSs patients, except a higher frequency of the presence of epicanthus in the RTS patients with alteration in the CBP. The results of this study serve as a molecular diagnosis for RTSs patients treated at the Ambulatory of the Medical Investigation Laboratory 001 (ALIM 001) of the Instituto da Criança - FMUSP, and this contributes to better clinical management, such as making an appropriate genetic counseling for families