As alterações cromossômicas estruturais associadas a fenótipos clínicos oferecem a oportunidade de identificação de genes cujas mutações possam estar determinando essas patologias, tendo em vista a possibilidade de que esses genes podem ter sido alterados pelas quebras ou ter o número de cópias modificado. Um número cada vez maior de evidências aponta para a participação de certas seqüências do genoma na formação de rearranjos cromossômicos recorrentes e não recorrentes. Neste trabalho, estudamos duas deleções cromossômicas detectadas em indivíduos com retardo mental associado a sinais clínicos. O objetivo foi determinar que mecanismos originaram esses rearranjos e como a perda ou quebra dos segmentos cromossômicos está relacionada com o fenótipo dos portadores. A caracterização das seqüências nos pontos de quebra e junção desses rearranjos é fundamental para a compreensão dos mecanismos de formação das alterações cromossômicas. A delimitação precisa dos segmentos deletados é necessária para a correlação com o quadro clínico. Para isso, este trabalho aliou o estudo cromossômico por hibridação in situ fluorescente (FISH) à análise do DNA. / Structural chromosomal alterations related to clinical phenotypes bring the opportunity to identify gene mutations determining the pathologies, because the causative genes may have been disrupted by the breaks or may have an altered number of copies. The delimitation of the segments involved in the chromosomal rearrangements is necessary for these genotype-phenotype correlations. The characterization of breakpoint and junction sequences in these chromosome alterations enables the identification of mechanisms originating them, and evidence has been produced pointing to the participation of particular genomic sequences in their formation. In this work, we studied two chromosomal deletions in patients with syndromic mental retardation, combining chromosomal analysis by fluorescent in situ hybridization (FISH) to DNA analysis. Our aim was to determine the mechanisms that originated these aberrations and how they were involved with the clinical phenotypes.

The thesis is concerned with establishing the braking retardation and determining of it's influence for standing passengers. The thesis consists of three parts. The first part is theoretical and it is engaged in brake system of tramway. The second, experimentally part talks about practical establishing of braking retardation. And the third part of thesis is gived to discussion about established values of braking retardation. The aim of thesis is to find a value of braking retardation, when standing passengers don't fall down.

Résumé : Le sFlt1 semble être un bon marqueur de la prééclampsie (PE). Nous avons évalué dans le cadre d’un essai randomisé contrôlé (MOMA), l’impact sur l’issue de grossesse d’un suivi rapproché de femmes identifiées comme « à risque » par un taux élevé de sFlt1 plasmatique entre 24 et 29 SA. Dans cet essai 939 nullipares ont été incluses en 2 bras (sflt1 connu ou non connu). Nos résultats ne montrent pas d’amélioration de l’issue de grossesse et suggèrent que l’inefficience de l’intervention (suivi rapproché) en est la cause la plus probable. Aussi la mesure du sFlt1 pour prédire la survenue d'une PE ne semble pas utile tant qu’un traitement efficace n’est pas à disposition. Des anomalies de la stéroïdogénèse placentaire ont été retrouvées associées à la PE. 90 échantillons issus de la cohorte MOMA répartis en trois groupes (25 PE, 25 retard de croissance intra utérin (RCIU) sans PE et 40 contrôles) ont été utilisés pour évaluer le profil stéroïdes par la technique fiable de GC/MS (entre 24 et 29 SA) - soit avant les signes cliniques -. Nous avons mis en évidence dans le groupe PE un défaut d'aromatisation des androgènes par le calcul du ratio estradiol/Δ4-Dione (sang) et un défaut d’expression de l’aromatase (placenta). Tout comme les taux significativement bas de sulfate de prégnénolone retrouvés, ce défaut d’aromatisation semble spécifique de la PE car ils n’ont pas été observés dans le groupe RCIU. Ces modifications s'inscrivent dans une dérégulation du profil stéroïdien global. Nous avons en effet observé dans les groupes PE et RCIU, un excés de 20α-dihydro-progestérone (20α-DHP) et un ratio 20α-DHP/Progestérone significativement élevé. Les stéroïdes sexuels partagent des voies de signalisation communes avec les facteurs angiogéniques, faisant inscrire aisément l’hypothèse « anomalies de la stéroïdogénèse » dans les concepts actuels de la physiopathologie de la PE. Les liens entre perturbations de la stéroïdogénèse et la prééclampsie sont discutés. / Abstract : sFlt1 appears to be a good biomarker of preeclampsia (PE). The impact on pregnancy outcomes of close monitoring of women identified as "at risk" at 24 and 29 weeks of gestation (weeks) by a high level of plasma sFlt1, was evaluated in a randomized controlled trial (MOMA). 939 nulliparous women were included in 2 arms (sFlt1 known or unknown). Our results do not show any improvement of pregnancy outcomes and suggest that the inefficiency of the intervention (close follow-up) is the most likely cause. Thus, routine sFlt1 screening to predict the occurrence of PE does not seem useful until effective treatment is available. Abnormalities of placental steroidogenesis have been associated with PE. 90 samples from the MOMA cohort divided into three groups (25 intra-uterine growth retardation (IUGR) without PE, 25 PE and 40 controls) were used to assess by the reliable GC / MS technique, the steroid profile (between 24 and 29 weeks)before the development of clinical signs. In the PE group, we showed abnormal androgen aromatization, by calculating the estradiol/Δ4-Dione ratio (blood), and a lack of expression of placental aromatase. Similarly to the significantly low levels of pregnenolone sulfate found, this lack of aromatization seems specific to PE as they are not found in the IUGR group. These modifications are part of a deregulation of the overall steroid profile. In the PE and IUGR groups, we observed an excess of 20α-dihydroprogesterone (20α-DHP) and a significantly high 20α-DHP/Progesterone ratio. Sex steroids share common signaling pathways with angiogenic factors which easily integrate the "steroidogenesis abnormalities" hypothesis in the current concepts in the pathophysiology of PE. Links between disturbances of steroidogenesis and preeclampsia are discussed.

L’étude des propriétés plasmoniques est un champ de recherche actuellement très actif. En particulier, la possibilité de manipuler la lumière à des échelles sub-longueur d’ondes rend ce domaine très attractif. Récemment, plusieurs études ont montré que les plasmons collectifs dans des méta-matériaux bi-dimensionnels constitués de nanoparticules métalliques se comportaient de manière similaire aux électrons dans les cristaux et partageaient certaines de leurs propriétés. Dans ce manuscrit, nous présentons une théorie unifiée permettant de décrire les propriétés de tels modes plasmoniques dans des réseaux ordonnés de géométrie arbitraires constitués de nanoparticules métalliques couplées en champ proche. En particulier, nous évaluons les taux de décroissance de ces modes ainsi que leurs décalages en fréquence afin de prédire leur observabilité expérimentale. / The study of plasmonic properties is one of the fields of research currently very active. In particular, the ability to manipulate light at subwavelength scales makes this subject very appealing. Recently, several studies have shown that collective plasmons in two-dimensional meta-materials based on metallic nanoparticles behave similarly to electrons in crystals and share some of their properties. In this manuscript, we present a unified theory for describing the properties of such modes in regular arrays of arbitrary geometries constituted by near-field coupled spherical nanoparticles. In particular, we have evaluated the linewidths of these modes as well as their frequency shifts in order to discussed their experimental observabilities.

Orientador: Lígia Maria Suppo de Souza Rugolo / Resumo: INTRODUÇÃO: O efeito da idade gestacional e do crescimento fetal nos imunocomponentes do leite materno ainda é pouco conhecido. OBJETIVO: Determinar a quantidade de citocinas no colostro em função da idade gestacional e do crescimento fetal. MÉTODO: Estudo transversal, envolvendo mães de recém-nascidos prematuros (PT) e de termo (T), nascidos na Maternidade da Faculdade de Medicina de Botucatu – UNESP, em 2014-2015. Critério de inclusão: gestação única; ausência de diabetes materno, ou uso de medicações/drogas ilícitas, sorologias negativas; recém-nascido com peso adequado (AIG) ou pequeno para idade gestacional (PIG) e sem malformação. Excluídos: não obtenção do colostro, mastite, uso de medicamento pela puérpera. Foram estudados 4 grupos: PT-PIG (n=18), PT-AIG (n=42), T-PIG (n=45), T-AIG (controle, n=42). No colostro coletado entre 24-72 horas pós-nascimento, foram dosadas as citocinas (IL-1β, IL-6, IL-8, IL-10, IL-12 e TNF-α) por citometria de fluxo. Na comparação entre grupos utilizou-se o Qui-quadrado ou teste Exato de Fisher, ANOVA, e Correlação de Pearson. RESULTADOS: As características maternas foram semelhantes nos 4 grupos. A idade gestacional média foi 34 semanas nos prematuros e 39 semanas nos termos. Os níveis de citocinas do colostro não diferiram entre os grupos de termo e pretermo. O grupo T-PIG apresentou maior quantidade de citocinas comparado aos demais. Nos 4 grupos houve correlação entre as citocinas, especialmente nos T-PIG. CONCLUSÃO: A quantidade de c... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: INTRODUCTION: The effect of gestational age and foetal growth in the imunno componentes of human milk is not well stablished. OBJECTIVE: To determine cytokines levels in colostrum according to gestational age and foetal growth. METHOD: Cross-sectional study with mothers of term (T) and preterm (PT) infants, with birth weight appropriate-for-gestational age (AGA) and small-for-gestational age (SGA), born at the Maternity of Botucatu School of Medicine- UNESP, during 2014 -2015. Inclusion criteria were: single gestation; absence of diabetes mellitus; no maternal use of medications or illicit drugs; negative maternal serology; and newborn without malformation. Mothers with mastitis, or use of medication, or failure to obtain colostrum, were excluded. Four groups were studied: PT-SGA (n=18), PT-AGA (n=42), T-SGA (n=45), and T-AGA (control, n=42). Colostrum was collected between 24-72 hours after birth, and cytokines (IL-1β, IL-6, IL-8, IL-10, IL-12 and TNF-α) were measured by flow cytometry. Chi-square or Fisher's exact test, ANOVA and Pearson's correlation were used to evaluate differences among the groups. RESULTS: Maternal characteristics did not differ between groups. The mean gestational age was 34 and 39 weeks for preterm and term groups. Cytokines levels in the colostrum were not different between term and preterm groups. However cytokines levels were significantly higher in colostrum from mothers of T-SGA. A positive correlation between cytokines was found in all groups, ... (Complete abstract click electronic access below) / Mestre

Thesis (MPH.) -- University of Limpopo, 2021 / Background: Malnutrition has become a problem in the world, with 2.2 million deaths of children under five years of age globally have been linked to growth retardation, stunting and severe wasting, while other 600 000 children in the same age group are said to have died due to deficiencies in Vitamin A (Black, Allen, Bhutta, Caulfield, De Onis, Ezzati, Mathers, Rivera, and Maternal and Child Undernutrition Study Group, 2008 ). Objectives: This study aimed at determining the prevalence of malnutrition in children below 5 years of age, and to quantify stunting, underweight, wasting, overweight and obesity of children in the same group. Methods: This was a descriptive quantitative study. The data for the study was collected from 10 clinics, situated in the Ba-Phalaborwa District Municipality, using a standardized questionnaire. Stratified random sampling was used and stata program was used to analyse the data. Results: A total of 404 of mothers gave positive responses for children to participate in the current study, yielding to 97.1% response rate. Fifty-two-point-two percent of these children were females. The average age of the mothers of these children was 28.3 ±7.0 years Fifty-three-point-four percent of the mothers were single, 27% were divorced, 18.6% were married and 0.5% were widowed. The overall prevalence of malnutrition among the children was 26.7%. Males had higher percentage of underweight with 19.1%, compared to females (9.9%). The highest prevalence of malnutrition in females occurred in the age group 48-59 months, at 40.0%, followed by the age groups 0-11 months, 36-47 months, 24-35 months and 12-23 months at 26.9%, 25.0%, 24.0% and 17.5%, respectively. Of the different types of malnutrition, the occurrence of obesity was the lowest among the children. Conclusion The results of the findings are consistent with the findings of other studies. However, this study could not find that characteristics such as education, type of residence or financial background contribute immensely to child malnutrition.

Title: Negative emotions in swimming lessons for people with mental disability Objectives: The aim of this diploma thesis is to determine the occurrence of negative emotions associated with swimming lessons in people with mental disabilities through selected methods. Other goals are to find out the nature of the occurrence and the possibility of influencing these emotions. The result of guided interviews and the subsequent synthesis of knowledge should be the development of principles that are causal for the prevention and possible positive influence of negative emotions associated with swimming instruction in people with mental disabilities. Research questions 1. Do people with mental disabilities experience negative emotions in connection with swimming lessons? 2. On what basis do these emotions arise? 3. How can these emotions be prevented? 4. How can these emotions be positively influenced? Hypotheses I. In the swimming lessons of people with mental disabilities, we encounter negative emotions. II. It is possible to find out on the basis of what these emotions arise. III. Negative emotions can be positively influenced. IV. If these emotions are positively influenced, the individual's motor learning will be accelerated. Methods: Semi-structured interview, which will be evaluated on the basis of...

Mental retardation (MR) is a very heterogeneous common neurodevelopmental disorder with a population prevalence of 2.5-3 %. The importance of genetic factors in the development of MR is high but in a significant number of cases the etiology remains unexplained. Recent studies using array methods pointed to frequent occurrence of copy number variants (CNVs) in patients with MR. Pathogenic CNVs were identified in 10-15 % patients with idiopathic MR and normal karyotype. The aim of our work was the analysis of genome-wide gains and losses of genetic material in a group of Czech patients with MR and a thorough bioinformatic analysis of the genetic changes identified aiming at the assessment of their clinical significance. We performed whole genome analysis using the HumanCytoSNP-12 BeadChips (Illumina) in 183 patients with idiopathic MR, normal karyotype and no FMR1 gene expansion. Data analysis was carried out using two independent programmes, GenomeStudio and QuantiSNP. The findings were subjected to two rounds of thorough bioinformatic analysis. Based on this analysis we classified the CNVs into 4 categories: pathogenic CNVs, probably pathogenic CNVs, CNVs with uncertain clinical significance and benign CNVs. With the exception of the benign variants, all CNVs were confirmed using an independent laboratory...

Key words: Disability, mental retardation, social services, comprehensiveness, continuity, availability. Abstract (in English): The aim of the diploma thesis is to map the needs of persons with disabilities with a focus on persons with mental retardation from birth until the end of their life and also quantity, diversity and quality of social services with emphasis on continuity and comprehensiveness in the former district town of Rychnov nad Kneznou. In this thesis, I will focus on the challenges and needs of families in which a child with disabilities was born and the amount of support and care that the child received in the past and gets in the present. Also, I point out the difficulties associated with the availability of social services for people with disabilities and their families in a village located 20 km from the district town or regional town. In the practical part, I perform empirical investigation of families with children with disabilities where some of them will come from the district town and the surrounding area and some of them from more isolated parts of Rychnov region.

This study compares the morbidity and mortality of non-adults in urban and rural cemeteries between AD 850-1859 It was hypothesised that the development of urbanisation and industrialisation with subsequenot overcrowding and environmental pollution, would result in a decline in human health in the urban groups. This would be evident in lower mean ages at death, retarded growth and higher rates of childhood stress and chronic infection in the children living in the urbanised environments. Non-adult skeletons were examined from Raunds Furnells in Northamptonshire (Anglo- Saxon), St. Helen-on-the-Walls in York (later medieval, urban), Wharrarn Percy in Yorkshire (later medieval, rural) and from the crypt of Christ Church Spitalfields, in London (AD 1729-1859). The results showed that it was industrialisation, rather than urbanisation that was most detrimental to child health. Weaning ages declined from two years in the Anglo-Saxon period to one year in the eighteenth and nineteenth century. Industrialisation was characterised by a lower mean age at death, growth retardation and an increase in the prevalence of rickets and scurvy. Although higher rates of dental disease and matemal stress were apparent in the urbanised samples, respiratory diseases were more common in the rural areas. Growth profiles suggested that environmental factors were similar in the urban and rural communities in the later medieval period. However, there was evidence that employment had a detrimental effect on the health of later medieval apprentices. This study demonstrates the importance of non-adult remains in addressing issues of health and adaptation in the past and, the validity of using skeletal material to measure environmental stress. / University of Bradford Studentship