Clefts of orofacial komplex are the most common birth development defects. One of them is Pierre Robin sequence, which is characterized by presence of micrognathia, glossoptosis and upper airway obstruction. Because of these symptoms, isolated cleft palate "U" or "V" shaped can be part of the diagnose. Other clinical manifestations are feeding difficulties, obstructive sleep apnea syndrome and / or gastroesophageal reflux disease. The aim of the treatment is to secure the airway and the child's thriving after birth by using conservative or invasive treatment methods. Choosing of methods and procedures should be established by multidisciplinary cooperation. The other part of diploma thesis is trying to find out, which clinical manifestation are the most common in patients from the Czech Republic compare to foreign patients and the differences in management of the treatment. Furthermore we are trying to investigate, whether there is higher percentage of patients with delayed neuromotor development among PRS patients, which are under physical therapy. The last part is trying to find out the relationship between the poor posture and PRS diagnose in children age 4 - 6 years.

Introduction: The reconstruction of the alveolar cleft is a step of great importance in the treatment of patients with lip and palate cleft. This phase of treatment corrects oral-nasal communication, improves phonation, prevents maxillary arch collapse, improves periodontal condition of adjacent teeth, and promotes bone support for non-erupted canine eruption. Objective: To evaluate the reconstruction of the alveolar bone with the bone graft and to compare the outcomes of two different bone graft materials: autogenous bone grafts from mandibular symphysis and lyophilized bone grafts associated with platelet-rich plasma (PRP) for the reconstruction of alveolar cleft. Methods: Forty five individuals met the inclusion criteria and accepted to participate in the case series study. Patients were evaluated for area and volume reduction and were then divided into two groups. Group A patients underwent alveolar bone grafting using autologous bone graft and group B patients using bovine bone graft associated with PRP. Cone beam computed tomography scans were taken, and reconstructed three-dimensionally for all patients preoperatively and 1 year postoperatively. Results: A significant reduction was detected for area and volume in all patients, within the group A and the group B. Between groups, no significant difference was found for area or volume. Conclusion: Lyophilized grafts associated with PRP are a good option for the reconstruction of alveolar clefts, and provide good results such as autologous bone grafts. / Introdução: A reconstrução da fenda alveolar é uma etapa de grande importância no tratamento dos pacientes portadores de fissura lábio-palatal. Esta fase do tratamento corrige a comunicação buco-nasal, melhora a fonação, previne o colapso do arco maxilar, melhora a condição periodontal dos dentes adjacentes e promove suporte ósseo para erupção do canino não irrompido. Objetivos: Avaliar a reconstrução do osso alveolar com a enxertia óssea e comparar os resultados de dois diferentes grupos de materiais de enxerto ósseo: osso autógeno da sínfise mandibular e osso liofilizado associado ao plasma rico em plaquetas (PRP) na reconstrução de fendas alveolares. Métodos: Quarenta e cinco indivíduos foram incluídos nos critérios estabelecidos e aceitaram participar deste estudo de série de casos. Os pacientes foram avaliados quanto a redução da área e volume, posteriormente foram divididos em dois grupos. Grupo A pacientes que receberam enxerto ósseo autógeno da sínfise mandibular na fenda alveolar e o Grupo B pacientes que receberam osso liofilizado associado ao PRP. Tomografia computadorizada tipo cone beam foram realizadas e reconstruídas tridimensionalmente em todos os pacientes no pré-operatório e no pós-operatório de 1 ano. Resultados: Uma redução significativa foi encontrada na área e volume em todos os pacientes, no grupo A e no grupo B. Entre os grupos, não foram encontradas diferenças significantes na área e volume. Conclusão: Osso liofilizado associado ao PRP é uma boa opção para a reconstrução de fendas alveolares, e promove bons resultados assim como o osso autógeno. / Aracaju

Historique & Objectifs: Les effets de l’avancement maxillaire (AM) sur l’anatomie velopharyngée ont déjà été étudiés en utilisant la céphalométrie. Cette modalité ne permet toutefois pas de bien caractériser les tissus mous. Le but de cette étude est de comparer la configuration de l’espace vélopharyngé en pré- et post-opératoire, telle que mesurée par tomodensitométrie (TDM). De plus, notre objectif est d’analyser et de comparer les différences dans ces mesures chez les patients avec et sans fente palatine (FP). Méthodologie: Ceci est une étude rétrospective portant sur 44 patients avec et sans FP, traités avec AM pour une hypoplasie maxillaire et une malocclusion dento-squelettique. Les TDM pré- et post-opératoires ont été comparés en se basant sur des repères préétablis. Des distances linéaires, des aires de sections transversales et des mesures volumétriques ont été mesurées en utilisant des reconstructions tridimensionnelles des TDM. Résultats: Pour les distances linéaires mesurées, une différence statistiquement significative a été notée pour les mesures linéaires du nasopharynx et du palais mou (25.1 vs 28.5 mm p=0.001 et 6.5 vs 7.6 mm p=0.026, respectivement). Les aires des sections transversales au niveau du nasopharynx et du palais mou ainsi que l'évaluation volumétrique de l'espace vélopharyngé n'ont pas démontrées une différence statistiquement significative en comparant les mesures en pré- et post-opératoire (p>0,05). En comparant les patients avec et sans FP, une différence statistiquement significative n’a été notée que pour la distance linéaire et l’aire de la section transversale du nasopharynx (p=0.045 et p=0.04, respectivement). Un antécédent de réparation de FP n’était pas prédictif de différences de mesures pré- et post-opératoire. Conclusion: Nos résultats confirment que, bien que certaines modifications structurelles de l’espace vélopharyngé soient inhérentes à l’AM chez les patients avec FP, leurs aires et volumes ne semblent pas changer de façon significative. Ces changements sont indépendants d’une histoire de FP réparée. / Background & Purpose: The effects of maxillary advancement (MA) on velopharyngeal anatomy have primarily been studied using lateral cephalometric radiographs. However, with recent advances in orthognathic surgery, there is an increased need for more detailed and precise imaging such as computerized tomographic (CT) scan reconstructions, to help in surgical planning and to measure outcomes. The purpose of this study is to compare the pre-and post-operative velopharyngeal space configuration modifications as measured on CT scans. The aim is also to assess differences in these airway measures between patients with and without history of prior repaired cleft palate (CP). Methods: This is a retrospective cohort study of 44 patients with and without CP who were treated with MA for midface hypoplasia and secondary malocclusion at skeletal maturity. The pre-and post-operative CT scans were compared with respect to pre-established landmarks. Linear distances, cross-sectional areas, and volumes were measured using 3-dimensional (3D) CT scan reconstructions. Results: For the linear distances measured, a statistically significant difference was found when comparing the pre-and post-operative measures of the narrowest part of the nasopharynx and the narrowest part of the retropalatal airway space (25.1 vs 28.5 mm p=0.001 and 6.5 vs 7.6 mm p=0.026, respectively). Retropalatal cross-sectional areas, nasopharyngeal cross-sectional areas and the volumetric assessment of the nasopharyngeal space showed no statistically significant differences when comparing pre-and post-operative scans (p>0.05). The main effect of palatal repair (CP vs. Non-CP) showed that there was only a statistically significant difference for the measures of the narrowest part of the nasopharynx and the nasopharyngeal cross-sectional area (p=0.045 and p=0.04, respectively). Mean changes in the measures did not differ over time (pre-and post-op) depending on whether there was prior history of CP repair. Conclusion: Our results support the hypothesis that although structural modifications of the pharyngeal space are inherent to MA in patients with CP, its surface area and volume do not change significantly. These changes are also independent of history of previous CP repair.

Les fentes labio-palatines (FLP) sont la malformation cranio-faciale congénitale la plus fréquente. D'origine multifactorielle, elles sont la conséquence d'un défaut de fusion des bourgeons faciaux.Objectif et MéthodologieL'objectif de ce travail a été d'étudier la place des gènes de l'angiogenèse dans le cadre de la piste étiologique des FL/P. La méthodologie de ce travail comportait 3 étapes :- Une analyse systématique et exhaustive des gènes impliqués dans les FL/P comprenant les gènes identifiés mais aussi les gènes potentiellement impliqués.- Une analyse rétrospective des explorations génétiques des FL/P opérées au CHU de Reims entre 2003 et 2009.- La mise en place d'une analyse prospective (2009-2012, AOL) :- Génomique constitutionnelle par CGH Array- In situ au niveau des berges des fentes issues de déchets opératoires des chirurgies primaires des FL/P comprenant :Le développement d'un protocole de culture cellulaire de fibroblastesUne analyse anatomopathologiqueEt surtout le développement d'un modèle d'étude in vivo chez l'enfant d'analyse d'expression des gènes de l'angiogenèse.RésultatsL'analyse systématique des gènes impliqués dans les FL/P a mis en évidence 95 gènes dont plus d'une dizaine sont connus comme liés aux mécanismes d'angiogenèse (facteurs de croissance et protéases). Ces derniers sont en interaction entre eux mais aussi avec 18 autres gènes impliqués eux aussi dans les FL/P. Ainsi au total 1/3 des gènes d'intérêt sont soit des gènes de l'angiogenèse soit en lien avec eux.L'étude rétrospective nous a permis de mettre en exergue certaines formes cliniques originales qui ont été étudiées et publiées sous un angle « étiologique ».L'étude prospective nous a permis, après obtention des consentements, d'inclure 72 patients (30 FLP, 24FL, 18FP) opérés au CHU de Reims entre 2009 et 2012 d'une chirurgie primaire.Nous présentons :- nos résultats anatomopathologiques, et génétiques (CGH Array)- notre protocole de culture cellulaire- nos réflexions, notre cheminement aboutissant à la création du modèle d'étude d'analyse d'expression des gènes de l'angiogenèseDiscussionLa littérature a bien mis en avant une implication des phénomènes angiogéniques dans la constitution des FL/P par le biais des facteurs de croissance (TGFβ, PDGF C et Ra, FGF, TGFA, FGFR1, FGFR2 ; VEGF) et des protéases (MMP/TIMP2). L'ensemble de nos manipulations in situ nous permet aujourd'hui de disposer du matériel nécessaire pour l'étude de l'expression des facteurs impliqués dans l'angiogenèse sur les berges des fentes.Parallèlement, l'étude génomique constitutionnelle en CGH Array a permis de retrouver des variations non-connues comme polymorphiques chez 62% de nos patients. Des études familiales vont compléter notre travail. Elles permettront de savoir si ces CNV sont héritées ou De Novo et ainsi de préciser leur caractère bénin ou pathologique. L'identification chez un de nos patients d'une amplification, même de petite taille, du gène SKI (gène lié à la voie des TGFβ) nous encourage dans la poursuite de nos recherches d'anomalies constitutionnelles des gènes de l'angiogenèse dans les FL/PLa CGH array est une technique qui nous a paru particulièrement utile et fiable en terme de « scanning » et de dépistage.En conclusion, en pratique clinique, la découverte des anomalies préalablement certainement sous estimées par les cliniciens doit nous mener à une nouvelle réflexion sur le conseil génétique et sur l'utilité dans l'avenir d'un dépistage plus systématique. / Cleft lip and palate (CLP) are the most common congenital craniofacial malformation. They have a multifactorial etiology and are the consequence of incomplete fusion of the facial buds.Objective and MethodologyThe objective of this work was to study the role of the genes of angiogenesis in the framework of studying the etiology of CL/P. Our methodological approach included 3 steps:- Systematic and thorough analysis of the genes involved in CL/P including identified genes but also genes that could be potentially involved.- A retrospective analysis of the operated clefts at the University Hospital of Reims between 2003 and 2009.- Implementation of a prospective analysis (2009-2012, AOL):- Constitutional genomic study by CGH Array- In situ with tissue specimens extracted from surgically excised cleft edges including:The development of a protocol for fibroblast cell culturesHistopathological analysisAnd above all the development of an in vivo study model in children for analyzing the expression of genes of angiogenesis.ResultsThe systemic analysis of genes involved in cleft lip palate unveiled 95 genes including about ten that are known to be related to angiogenesis mechanisms (growth factor and proteases). These genes interact between themselves but also with 18 other genes also involved in CL/P. In all, 1/3 of relevant genes are either angiogenesis-related genes or in direct relation with them.The retrospective study permitted to underline the some original clinical forms that were studied and published under an « etiological » angle.The prospective study included 72 patients (30 CLP, 24CL, 18CP), for whom we obtained informed signed consents, operated at the University Hospital of Reims between 2009 and 2012 for primary cleft surgery.We present:- Our histopathological and genetic results (CGH Array)- Our cell culture protocol (submitted for publication)- Our approaches and thought process behind the design of a study model for analyzing expression profiling of angiogenic genesDiscussionThe literature has highlighted the role of angiogenesis in the formation of cleft lip/palate via growth factors (TGFβ, PDGF C and Ra, FGF, TGFA, FGFR1, FGFR2, VEGF) and proteases (MMP/TIMP2). All our manipulations in situ have yielded the necessary material, i.e. edges of resected clefts, to study the expression of factors involved in cleft angiogenesis.In parallel, the constitutional genomic study in CGH Array enabled to uncover abnormalities in 62% of our patients. Family studies will complete our work. They will help to refine if these CNV are inherited or de novo and thus indicate their benign or pathological nature. In one of our patients, the identification of the SKI gene (related to the TGFβ pathway) encourages us to continue our research of genetic abnormalities of angiogenic genes involved in cleft lip/palate. CGH array appeared to be a very useful and reliable method in terms of scanning and screening.In conclusion, in clinical practice, the discovery of abnormalities which were probably underestimated by clinicians before, leads us to rethink the issue of genetic counseling and the relevance of a more systematic screening for these abnormalities in the future.

The topic of this diploma thesis is an analysis of interdisciplinary approach to children with orofacial clefts. The first chapter deals with theoretical base and defines terminology - communication, communication disabilites. It also defines anatomy and physiology of nasal cavity and oral cavity. The second chapter relates to issues of orofacial clefts. It describes classification, etiology, symptomatology, prevention, aestetic and psychosocial impacts and orofacial cleft children care. The third chapter deals with occurence of communication disabilites of children with orofacial clefts. It focuses on the definition of palatholaly, velopharyngeal inadequacy and it describes various linguistic levels and speech therapy and intervention. The fourth chapter is empiric and it deals with analysis of interdisciplinary approach to children with orofacial clefts. In research processes there were used scientific literature analysis, anamnestic data analysis and available specialized materials analysis. Based on all of these materials six case studies were created. Main goal of this empiric chapter was to analyze interdisciplinary approach to children with orofacial clefts. Partial goals were to analyze whether information provided by experts and doctors to parents of newborn children with orofacial cleft...

Aim: The aim of this literature study was to systematically review the scientific evidence on the most effective donor sites and/or bone substitute material for secondary alveolar cleft grafting in alveolar cleft patients. Material and method: In order to acquire a systematic and transparent reporting this literature review was conducted according to the PRISMA statement. The literature search was performed in the following four databases; PubMed, CENTRAL, Web of Science and Scopus.The quality of the included studies was assessed using the revised Cochrane Risk of Bias 2 tool (RoB 2 tool). Result: The search identified 4754 studies. Five RCT studies was included in this systematic review and assessed different donor site or bone substitute materials. Two studies showed low risk of bias and three moderate risk of bias. Only one study showed a statistically significant difference when comparing iliac bone to substitute material however all studies presented substitute materials with satisfactory results. Conclusion: According to the data from this systematic review no clear conclusion can be drawn regarding what the most effective bone donor site and/or tissue engineered bone substitute material to use in secondary bone grafts. Based on the available evidence iliac bone could still be regarded as a benchmark, but more research and RCT’s of high quality are required, especially for artificial bone substitute materials. / Syfte: Syftet med denna litteraturstudie var att systematiskt granska den vetenskapliga evidensen gällande det mest effektiva bentagningsstället och/eller bensubstitutmaterialet vid sekundär bentransplantation hos patienter med käkspalt. Material och metod: För att uppnå en systematisk och transparent rapportering av denna litteraturstudie följdes PRISMA statement. Litteratursökningen gjordes i följande fyra databaser; PubMed, CENTRAL, Web of Science och Scopus. Kvaliteten av inkluderade studier granskades med hjälp av Cochrane Risk of Bias 2 tool (Rob 2 tool). Resultat: Sökningen identifierade 4754 studier. Fem RCT studier inkluderades i denna systematiska översikt vilka värderade olika bentagningsställen eller bensubstitut. Två studier bedömdes ha låg risk för bias och tre artiklar måttlig risk för bias. Endast en studie visade på en statistiskt signifikant skillnad vid jämförelse av höftben med bensubstitut däremot presenterade samtliga studier substitutmaterial med tillfredsställande resultat. Konklusion: Denna systematiska översikt visade att ingen klar slutsats kan dras gällande vilken det mest effektiva bentagningsstället eller bensubstitutsmaterialet är för sekundär bentransplantation hos patienter med käkspalt. Baserat på tillgänglig evidens kan transplantat från höftbenet fortfarande anses vara bäst lämpat men mer forskning samt RCT studier av hög kvalité erfordras, särskilt för artificiella bensubstitutmaterial.

The topic of cleft lip and/or palate is widely researched in literature. However no research to date has focused on mothers' experiences raising twins when one twin is born with a cleft lip and/or palate. This qualitative study aims to explore the unigue experiences of these mothers. The epistemological foundations of this study are postmodern, social constructionist and systemic. In accordance with a gualitative methodology data was collected in the form of the participants' personal written stories. This was done from a post-modern paradigm, from a systemic perspective. Themes that were extracted from the stories according to thematic content analysis, not only reflect the experiences of mothers raising twins when one twin is born with a cleft lip and/or palate, they also provide an in-depth understanding of these mothers' experiences and unique situations. Recommendations for future research are offered. / Psychology / M.A. (Clinical Psychology)

Es wurde eine Datenbankmanagementsystem-Anwendung zur Dokumentation von Patienten mit Lippen-Kiefer-Gaumenspalten entwickelt. Ziel des Computerprogramms ist, anhand großer Patientenzahlen weitere statistisch abgesicherte Daten zur Heredität, anderen ätiologischen Faktoren, Epidemiologie und Therapiebewertung zu gewinnen. Besonderes Augenmerk wurde auf Angaben zu möglichen ursächlichen Faktoren der Spaltentstehung gelegt. Möglicherweise ergeben sich doch einmal durchgreifende präventive Maßnahmen bei Risikoschwangerschaften. Die Auswertung großer Patientenkollektive (seit 1948 etwa 3000 Spaltpatienten an der Charité) im objektiven Vergleich mit anderen Behandlungszentren kann zur Therapieoptimierung beitragen. Zur Analyse werden die funktionellen und aesthetischen Behandlungsresultate in Abhängigkeit vom Therapieverfahren eingeschätzt. Die Gesamtbehandlung erstreckt sich über 20 Jahre. Eine endgültige Ergebnisbeurteilung kann erst nach dieser Zeit erfolgen. Es muß von einer großen Variationsbreite der Behandlungsmodelle ausgegangen werden. Diese müssen an großen Patientenkollektiven statistisch in ihrem Erfolg abgesichert werden. Das Projekt steht im Konsens mit den Empfehlungen des interdisziplinären Arbeitskreises Dokumentation der Arbeitsgemeinschaft Lippen-Kiefer-Gaumenspalten der Deutschen Gesellschaft für Mund-, Kiefer- und Gesichtschirurgie. Die Anwendung wurde auf Basis eines relationalen Datenbankmanagementsystems entwickelt. Das Programm zeichnet sich durch einfache Bedienbarkeit und schnelle Datenerfassung aus. Es ist als detaillierte Erfassung konzipiert. Verschiedenartige Eingabeerleichterungen wurden eingearbeitet. Die Datenerfassung ist weitgehend standardisiert und skaliert. Voraussetzung für diese Eigenschaften, die in ihrer Gesamtheit einen Fortschritt im Vergleich zu vorgenannten anderen Systemen darstellen, war die rasante Entwicklung der Hard- und Softwaretechnik. Nunmehr ist es problemlos möglich, die Datenfülle zu bewältigen. Schon für den einzelnen Patienten besteht durch die vielen beteiligten Fachgebiete, diverse Behandlungsmaßnahmen und wiederholte Kontrolluntersuchungen ein beachtlicher Dokumentationsbedarf. Bei den für die statistische Auswertung nötigen hohen Patientenzahlen resultieren tausende Datensätze. Der erreichte Stand ist nicht endgültig. Das Programm kann ständig weiterentwickelt und angepaßt werden. Bezugnehmend auf andere Systeme soll der interdisziplinäre Charakter noch einmal betont werden. Dafür spricht unter anderem die Netzwerkkompatibilität. Im Wechselspiel mit der Kieferorthopädie, der Hals-Nasen-Ohrenheilkunde, Pädiatrie, Logopädie sowie der konservierenden Zahnheilkunde ergibt sich eine gegenseitige Beeinflussung. Das fand Berücksichtigung bereits im anamnestischen Bereich, setzt sich bei der Diagnose und Befunddokumentation fort. Auch die Menügestaltung ist darauf abgestimmt. Die Wechselwirkung der beteiligten Fachgebiete zu optimieren, ist das Ziel der Auswertung großer Patientenkollektive. Dazu sind ausgezeichnete Voraussetzungen geschaffen worden. Größte Patientenkollektive können nach beliebigen Kriterien und deren Verknüpfung in beeindruckender Schnelligkeit ausgewertet werden. Die Anwendung moderner Erfassungssysteme und insbesondere die Archivierung und Bearbeitung visueller Befunde besitzt nicht nur wissenschaftlichen Wert in ihrer Auswertung oder der Therapieplanung, sondern kann im Praxisbetrieb motivierende Wirkung auf den Patienten haben. Er fühlt sich optimal mit modernsten Mitteln betreut, was die Compliance erhöhen kann. Die eingehende Beschäftigung mit seinen Befunden beziehungsweise mit den Eltern bezüglich der Krankengeschichte vermittelt dem Einzelnen, daß sein Schicksal nicht nur für ihn wichtig ist, sondern sich in die Gesamtheit der Bemühungen einordnet, die Prävention und Therapie der Spaltbildungen zu verbessern. / The efforts in the past to improve the treatment of patients suffering from cleft lip and palate as well as to better understand the etiology of clefts have shown that a large number of cases with very large amount of data will normally have to be assessed considering the natural variation of the cleft lip and palate and the true effects to be apparent clinically and statistically. With the help of computer supported databases it is possible to keep comprehensive records about anamnestic information and results of clinical examination before and after all types of treatment including the assessment of the standard of outcome. If necessary the future treatment approaches can be altered. Therefore a computer supported database system using the latest features of object orientated relational database management systems was developed. The efforts of the German Society Of Maxillofacial Surgery to standardize the clinical records and treatment evaluations were considered. The introduced system features network compatibility, high performance query tools and can be managed by average computer users. Running it on actual customary hardware the processing speed considering the very large amount of data to be collected from thousands of patients with often more than 18 years of treatment is excellent. The introduced system contributes to the general approach to improve the treatment outcome and to better understand the etiology of cleft lip and palate.

Este estudo tratou de avaliar possíveis efeitos a saúde de recémnascidos cujas mães foram expostas ao trihalometanos (THM) contidos nas água de abastecimento público da cidade de São Paulo. O processo de tratamento da água de abastecimento utilizado no Brasil envolve uma etapa de desinfecção cujo objetivo é eliminar microorganismos patogênicos presentes na água. O cloro é um dos principais agentes desinfetantes. Apesar de pesquisas apontarem benefícios para a saúde humana no uso do cloro durante o processo de desinfecção, quando na água de abastecimento há a presença de matéria orgânica ocorrem reações entre essas substâncias que geram como subproduto, os THM. Estudos têm sido conduzidos para avaliar os efeitos da exposição ao THM e a ocorrência de eventos adversos na gravidez. Alguns destes trabalhos têm encontrado excesso de risco; outros não têm encontrado tal associação. Os artigos de revisão publicados sobre o assunto relatam que os resultados destas avaliações ainda são inconclusivos. O presente estudo objetivou avaliar se existe associação entre a exposição ao THM presente na água de abastecimento, utilizando para isso mensurações realizadas nas redes de distribuição da cidade de São Paulo, e a ocorrência de malformações congênitas. Foram considerados os seguintes desfechos: defeitos cardíacos, fenda labial e fenda palatina; anomalias cromossômicas, defeito no sistema nervoso central. Nesta classe, avaliou-se também o defeito do tubo neural. A população estudada foi composta de recém-nascidos de mães residentes na cidade de São Paulo cuja gestação foi única e a termo, no período de janeiro de 2002 a dezembro de 2006. As informações sobre os recém-nascidos foram obtidas do Sistema de Informação sobre Nascidos Vivos (SINASC). As concentrações de THM foram obtidas por meio de mensurações realizadas rotineiramente pela Companhia de Saneamento Básico de São Paulo (SABESP), nas redes de distribuição de água da cidade de São Paulo. A exposição ao THM atribuída a casos e controles foi determinada a partir da associação da medida realizada na rede de distribuição com o endereço residencial da gestante, no período da concepção. Os resultados encontrados apontaram que a exposição ao THM está inversamente associada às ocorrências de malformações avaliadas no estudo. A falta de informação quanto à mobilidade, origem e quantidade de água clorada à qual a gestante foi exposta, bem como a não avaliação de outras vias de exposição, além da ingestão, podem ter conduzido a vieses que subestimaram os riscos do efeito da exposição aos compostos. Este fato fortalece a necessidade de trabalhos mais aprofundados, avaliando mais criteriosamente a exposição materna ao THM e considerando também um melhor aprofundamento da investigação sobre a possibilidade de efeitos interativos de outros compostos clorados contidos na água de abastecimento. / This present application is going to deal about the potential effects related to the newborn babies health whose mothers had been exposed to the trihalomethanes (THM) that the water supply of the city of São Paulo contain. The water treatment process of supply used in Brazil has one stage of disinfection which purpose is eliminate the pathogenic microorganism presents in the water. Chlorine is one of the main disinfectant agents. Although researches indicates the chlorine benefits to human health when used in the disinfection process, when in the water supply has some organic material, some reactions can occur between these substances generating as a sub-product the trihalomethanes. Many studies is being conducted to consider the effects of the trihalomethanes (THM) exposition and the adverse events that can occur during pregnancy. Some of these studies have found excess of risks; others havent. The review articles published about this topic report that the results are still inconclusive. The present study wants to assess whether there is an association between exposures to THM in the water supply by means of measurements taken in the distribution networks of the city of São Paulo and the occurrence of congenital malformations, considering the following outcomes: cardiac defects, cleft lip and cleft palate, chromosomal abnormalities, defects in the central nervous system. It will also assess the neural tubes defect. The studied population was composed by mothers of newborn babies living in São Paulo, between January, 2002 and December, 2006, whose had a normal and single pregnancy. The information about the newborn was obtained from the SINASC (Information System about Live Births). The concentrations of trihalomethanes were obtained by measurements carried out routinely by SABESP (Basic Sanitation Company of the State of São Paulo) in water distribution networks of the city of São Paulo. The exposition to THM related to the cases and controls, was determined to the realized association in the distributed network with the pregnants address, in the period of conception. The results indicate that the exposition to THM is inversely associated with the malformations occurrence evaluated in the study. The lack of information about the mobility, origin and amount of chlorinated water to which the pregnant woman was exposed, as well as the non evaluation of others ways of exposure, instead of ingestion, may have led to bias which under-estimated the risks of the effect of exposure to the compounds. This fact shows that more specific researches must be done, evaluating more carefully the maternal exposure to the THM, and it also has to consider greater depth of research about the possibility of interactive effects of other chlorinated compounds in the water supply.

The topic of cleft lip and/or palate is widely researched in literature. However no research to date has focused on mothers' experiences raising twins when one twin is born with a cleft lip and/or palate. This qualitative study aims to explore the unigue experiences of these mothers. The epistemological foundations of this study are postmodern, social constructionist and systemic. In accordance with a gualitative methodology data was collected in the form of the participants' personal written stories. This was done from a post-modern paradigm, from a systemic perspective. Themes that were extracted from the stories according to thematic content analysis, not only reflect the experiences of mothers raising twins when one twin is born with a cleft lip and/or palate, they also provide an in-depth understanding of these mothers' experiences and unique situations. Recommendations for future research are offered. / Psychology / M.A. (Clinical Psychology)