Mothers who have an infant with severe congenital heart disease (CHD) face an uncertain and emotionally challenging postpartum period as their baby is hospitalised and undergoes life-saving cardiac surgical treatment. There are many potential risk factors to mother-infant bonding, that is, the emotional tie a mother develops with her baby, in the context of infant illness. Having an infant with a diagnosis of severe CHD could be seen as a threat to the mother's experience of bonding. However, there is limited understanding about the maternal perception of bonding with an infant with severe CHD. This study aimed to explore mothers' bonding with their infant with severe CHD throughout antenatal, perinatal and postnatal periods and how they coped with any challenges to this bond. Interviews were conducted with eight mothers of infants aged between eight and fifteen months with severe CHD, who were recruited from a children's hospital and who were diagnosed either antenatally or postnatally. Interpretative Phenomenological Analysis was used to identify themes across the mothers' accounts. Four superordinant themes were identified: ‘An Emotional Start to Motherhood and the Mother-Infant Bond', ‘Losing Control in the Context of CHD', ‘Keeping Connected to the Baby' and ‘Moving on Together'. The findings identify mother-infant bonding as a process that can withstand challenges such as maternal-infant separation, potential loss of the infant and maternal feelings of disconnection from the baby. Practical strategies were used by mothers to maintain their bond with their infant following diagnosis and during hospitalisation. These included being close to their infant and taking over caregiving duties from the nurses. Mothers described strength and resilience from the experience and a process of increasingly feeling closer to their infant. Several potential research implications and clinical recommendations for healthcare professionals are suggested.

Congenital heart disease (CHD) includes a variety of disorders that are characterized by structural defects to the heart or the coronary blood vessels that occur in fetal development. CHD occurs in 8 of every 1,000 live births. CHD often requires surgical repair and increases caregiving burden for families. The purpose of this study was to better understand the relations between illness-related parenting stress, coping resources, and psychological functioning in primary caregivers of young children with CHD. 69 parents provided demographic information and completed measures of parenting stress, self-efficacy, mindfulness, social support, and adjustment. Results revealed that psychological functioning in this sample is comparable to other chronic illness populations. In regression analyses, illness-related parenting stress was positively related and mindfulness was negatively related to psychological distress.

En litteraturbaserad studie har gjorts med analys av nio kvalitativa studier från 2005-2016. Idag överlever fler patienter med medfött hjärtfel tack vare tidig diagnostisering och förbättrade behandlingsmöjligheter. För unga vuxna mellan 13-39 år finns skilda meningar om hur de upplever sitt medfödda hjärtfel. Ett medfött hjärtfel uppstår redan i fosterstadiet, då hjärtat utvecklas. Ungefär en procent av världens barn föds varje dag med ett medfött hjärtfel. En tredjedel av hjärtfelen är varken i behov av operation eller behandling. Hjärtfelet kan förändras över tid vilket gör att uppföljning under livets gång är viktig. Tidigare har det inte varit möjligt för unga vuxna med medfött hjärtfel att växa upp, vilket gör att vuxensjukvården fått en ny patientgrupp. Det gör att det saknas kunskap om vad som kommer vänta de unga vuxna i framtiden. Dessutom har allmänsjuksköterskan inte en traditionell utbildning inom området, trots det kan allmänsjuksköterskan möta den här patientgruppen i sjukvårdens alla vårdformer. För att kunna bemöta unga vuxna på bästa sätt krävs en ökad kunskap om medfödda hjärtfel. Sjuksköterskan bör sätta sig in i patientens livsvärld och på så sätt göra vården personcentrerad. Antalet vuxna med medfött hjärtfel har ökat, vilket gör att fundera kring yrkesval, förmåga att bilda familj och ärftlighet av sjukdomen uppstår. Studiens resultat grundar sig på artiklar från olika delar av världen, vilket gör att upplevelserna kan skilja sig åt beroende på land och sjukvårdssystem. Studiens resultat visar att unga vuxna upplever sitt hjärtfel på olika sätt. En del känner att de har kontroll över sin sjukdom och därmed upplever de sig friska. Hjärtfelet är en del av identiteten och de känner sig inte begränsade i sin vardag, medan andra unga vuxna upplever att det är hjärtfelet som styr och kontrollerar deras liv och de ser sig som inneboende i sin sjukdom. Det kan leda till upplevelser om att vilja ge upp och det kan ha en negativ påverkan på hälsotillståndet. Unga vuxna lever med oro och osäkerhet om sin framtid eftersom den upplevs som oviss. En vanlig upplevelse unga vuxna har är att de känner sig annorlunda. Det kan bero på fysiska begränsningar och operationsärret men den största anledningen är hur de upplever sig bli bemötta från sin omgivning. Studien är tänkt för att sjuksköterskan ska få en ökad förståelse för patientens livsvärld. / Background: Every day approximately one percent of the world's children are born with a congenital heart disease. Life span has increased for patients with congenital heart disease due to early diagnosis and development in recent decades in cardiac surgery. Living with a congenital heart disease got young adults to think about the disease itself, the ability to start a family, sexual activity, pregnancy, childbirth, choice of profession, physical activity and heredity. Today there are more adults than children with a congenital heart disease and the study highlights the experiences of the disease of young adults aged 13-39 years. Aim: The aim of the study was to describe young adults' experiences of living with a congenital heart disease. Method: A literature-based study has been made of qualitative studies retrieved from databases Cinahl and PubMed. The study is based on nine articles from different countries around the world. The articles have been analyzed by content analysis for qualitative studies. Results: The study's analysis resulted in three main themes; "feel different", "to be controlled by the disease," and "to take control of the disease." Conclusion: Living with a congenital heart disease was experienced in different ways, it was splitted opinions if the young adults felt they had control over their heart disease or not. The most common experience was to feel different. The young adults felt anxiety and uncertainty for the future because it could be experienced as uncertain.

Thesis (M.S.)--Boston University / PLEASE NOTE: Boston University Libraries did not receive an Authorization To Manage form for this thesis or dissertation. It is therefore not openly accessible, though it may be available by request. If you are the author or principal advisor of this work and would like to request open access for it, please contact us at open-help@bu.edu. Thank you. / 2031-01-01

M.Sc. (Med. (Paediatric Cardiology)), Faculty of Health Sciences, University of the Witwatersrand, 2008 / Left ventricular (LV) noncompaction is characterized by the presence of an extensive trabecular myocardial layer within the luminal aspect of the compact myocardium of the ventricular wall. The trabeculae are both excessive in number and more prominent than normal. Noncompaction may occur in isolation usually with clinical features of dilated cardiomyopathy, or it may be associated with congenital or acquired heart diseases. Echocardiography is the reference standard for diagnosis, where a ratio of thickness of trabecular-to-compact myocardium (compaction ratio) of >2 is a major diagnostic criterion. Noncompaction is usually considered to result from persistence of the highly trabeculated myocardium found in early cardiogenesis of the human embryo. If persistence of excess trabeculae is the only determinant of the compaction ratio it would be expected that it would remain a consistent measurement in postnatal life. However, temporal changes in the degree of noncompaction in individual case reports have raised the question as to whether the compaction ratio might be sensitive to haemodynamic or other factors. In the present dissertation, I assessed echocardiographically whether the compaction ratio is associated with increases in indices of LV volume preload in 100 children or adolescents with ventricular septal defects (VSD), and 36 with chronic rheumatic heart disease (RHD). Compared to 79 normal controls (compaction ratio=1.4±0.07), patients with VSDs (compaction ratio=2.0±0.2, p<0.0001) and RHD (compaction ratio = 2.0±0.3, p< 0.0001) had a marked increase in the compaction ratio. A compaction ratio>2 was found in 42% of patients with VSDs and 47% with RHD. In VSDs, independent of age and gender, the compaction ratio was positively associated with LV mass index (LVMI) (partial r=0.44, p<0.0001), VSD size (partial r=0.4, p<0.0001), LV end diastolic diameter indexed (LVEDD) (partial r=0.24, p= 0.01), and the presence of additional shunts (partial r=0.21, p=0.02). In RHD, independent of age and gender, the compaction ratio was positively associated with LVEDD (partial r=0.62, p=0.0001), and LVMI (partial r=0.48, p=0.005), and negatively with LV ejection fraction (partial r=0.31, p=0.03). The strong association of indices of LV volume load and the compaction ratio would suggest that haemodynamic influences are contributing to the compaction ratio both in congenital and acquired cardiac disease in childhood. Thus an increased compaction ratio may be the consequence of an increased volume preload, and therefore may not necessarily occur only as a result of persistence of embryonic patterns.

Aim: To describe innovative uses of catheter based treatment in a variety of native and post surgical stenoses in children and young adults with congenital heart disease. Background: Cardiac catheterization in man was first described 1929 and since then there has been a drive to develop endovascular techniques to investigate and treat both congenital and acquired heart disease. Many of the advances are being made in congenital heart disease. Methods: A number of congenital cardiac stenotic lesions were studied including baffle obstruction after atrial switch for transposition of the great arteries, aortic stenosis in infants, coarctation of the aorta, peripheral pulmonary artery stenosis and superior vena caval obstruction. The use of angioplasty balloons, cutting balloons, stents and alternative catheter approaches were investigated for these lesions. Results: Following atrial redirection surgery for transposition of the great arteries balloon angioplasty improved baffle haemodynamics. The technique of anterograde balloon dilation of the aortic valve was developed and had superior outcomes in terms of aortic insufficiency compared to a retrograde approach in neonates with severe aortic valve stenosis. In an animal model of peripheral pulmonary arterial stenosis, the application of cutting balloon angioplasty produced effective relief in a controlled fashion. Balloon mounted stents were used in patients with native and post surgical coarctation of the aorta with significant relief of stenosis and relief of hypertension. Finally, a group of patients with superior vena obstruction syndrome after surgical repair of partial anomalous pulmonary venous drainage had successful treatment using balloon mounted stents. Conclusions: Catheter based treatment of congenital and post surgical vascular stenoses of the heart and great arteries using angioplasty balloons, cutting balloons and balloon mounted stents is safe and appears to be effective in the short and medium term. It may represent a useful alternative to surgery and will reduce the number of surgical procedures required over a lifetime. Future directions will include bio-absorbable stents and hybrid techniques involving surgery.

O pé torto congênito (PTC) é a deformidade congênita de maior prevalência na ortopedia. No Brasil, cerca de 2:1000 nascidos vivos são acometidos por essa malformação. As deformidades fundamentais são adução, e supinação do antepé, varo do calcâneo, equinismo na articulação subtalar. O tratamento pode ser cirúrgico ou conservador e deve ser iniciado o mais cedo possível. Os métodos biomecânicos descrevem o movimento das estruturas do aparelho locomotor durante as atividades funcionais. O objetivo geral desta pesquisa de mestrado foi realizar a análise cinemática dos movimentos entre o antepé e o retropé de crianças com pé torto congênito, tratadas pelo método Funcional Francês Adaptado. Para isto foram avaliadas 7 crianças com idades entre dois e 8 anos por meio de quatro câmeras filmadoras digitais que gravaram os deslocamentos de marcadores colocados em pontos anatômicos dos membros inferiores durante a fase de apoio e balanço da marcha em velocidade auto selecionada. Posteriormente os pontos foram digitalizados, a reconstrução tridimensional e o calculado dos ângulos de Euler foram feitos por meio do programa Matlab. Os movimentos de pronação/supinação, dorsiflexão/flexão plantar e abdução/adução destes dois segmentos do pé destas crianças foram comparados com crianças com desenvolvimento típico. Apenas o movimento de pronação/supinação do retropé foi igual entre as crianças com desenvolvimento típico e crianças com pé torto congênito. Este é o primeiro estudo que mostra como se comportam os movimentos do antepé e retropé de crianças com pé torto congênito, durante a marcha em esteira. Estes resultados são importantes, pois auxiliam a compreender compõem um estudo pioneiro na identificação da mobilidade do pé durante a marcha em crianças com pé torto congênito / Congenital clubfoot (PTC) is the most prevalent congenital deformity in orthopedics. In Brazil, about 2: 1000 live births are affected by this malformation. The fundamental deformities are adduction, and supination of the forefoot, varus of the calcaneus, equinism in the subtalar joint. Treatment may be surgical or conservative and should be started as soon as possible. Biomechanical methods describe the movement of structures of the locomotor apparatus during functional activities. The general objective of this master\'s research was to perform the kinematic analysis of walking of children with congenital crooked feet. Seven children aged between two and eight years were evaluated through four digital camcorders recording the displacements of markers placed in anatomical points of the lower limbs during the support phase and self-selected speed gait. After the points were digitalized, the three-dimensional reconstruction and the Euler angles calculation were done through programming routines written in Matlab. The pronation / supination movements, dorsiflexion / plantar flexion and abduction / adduction of these two foot segments were compared with children with typical development. Only the pronation / supination movement of the hindfoot was the same among children with typical development and children with congenital crooked feet. This is the first study that shows how the movements of the forefoot and hindfoot of children with congenital clubfoot behave during treadmill walking. These results are important because they help to understand the joint mobility of the feet of children during gait and to contribute to the treatment of patients with congenital clubfoot

The development and function of the heart is governed by a conserved set of transcription factors (TFs) that regulate gene expression in a cell-type, time point and stimulus driven manner. Of these core cardiac TFs, the most ubiquitously expressed is the zinc finger protein GATA4. In cardiomyocytes, GATA4 is central to proliferation, differentiation, hypertrophy and induction of pro-survival pathways. In cardiac endothelial cells, it is required for valve and septal development, although the exact mechanisms remain unclear. To regulate such a wide array of functions in a spatially and temporally controlled manner, GATA4 interacts with specific protein partners, the majority of whom have been identified in cardiomyocytes. However, a complete understanding of the protein interactome of GATA4, particularly in cardiac endothelial cells, has not yet been achieved. Using a mass spectrometry-based approach, we have identified a series of novel GATA4 interacting partners in cardiac endothelial cells. 3xFlag GATA4 was stably overexpressed via retroviral transduction in the TC13 cardiac endothelial precursor cell line, immunoprecipitated from nuclear protein extracts and sent for HPLC-ESI-MS/MS. Several novel GATA4 interacting partners were identified including the chaperone protein Heat Shock Protein 70 (HSP70), the inducible orphan nuclear receptor Nerve Growth Factor 1β (NGFIβ, NUR77) and the Drosophila-Binding/Human Splicing protein family members Non-POU Domain Containing Octamer Binding Protein (NONO) and Paraspeckle 1 (PSPC1). Chapter 1 discusses the interaction between GATA4 and HSP70 and its role in cardiomyocyte survival upon exposure to chemotherapeutic agent Doxorubicin (DOX). HSP70 binds directly to GATA4, preventing DOX-mediated cleavage and degradation by Caspase-1, cardiomyocyte cell death and heart failure. Chapter 2 focuses on the cooperative interaction between GATA4 and NUR77 in cardiac microvascular endothelial cells and its central role in myocardial angiogenesis in response to pressure overload. The GATA4-NUR77 complex transactivates the promoter of Angiopoietin-Like 7 (ANGPTL7), a secreted pro-angiogenic chemotactic factor, triggering endothelial cell proliferation and tube formation in cultured cardiac endothelial cells and increasing myocardial capillary density in vivo. Chapter 3 discusses the interaction between GATA4 and the DBHS proteins NONO and PSPC1 in the regulation of cardiac development. These proteins play opposing roles when bound to GATA4 as PSPC1 enhances GATA4 activation of critical cardiac promoter targets and NONO acts as a rheostat to repress GATA4 activity. In vivo, loss of NONO results in left ventricular non-compaction consistent with humans with loss-of-function mutations. However, simultaneous Gata4 haploinsufficiency partially rescues this phenotype. Together, this data identifies multiple novel cell type and time point specific GATA4 protein partners and sheds light on GATA4 regulatory mechanisms in cardiac development and disease.

Introdução: O hipotireoidismo congênito possui prevalência de 1/4000 crianças nascidas vivas e pode ser causado por disgenesia tireoideana (80% dos casos) ou por defeitos de síntese hormonal (20% restantes). A disormonogênese tem sido associada a mutações nos genes: tireoglobulina, simportador sódio/iodo, tireoperoxidase, dual oxidase 2, e pendrina. A tireoglobulina é uma glicoproteína de 660KDa e funciona como matriz para a síntese dos hormônios tireoideanos. Até o momento 38 mutações inativantes, associadas a bócio e hipotireoidismo, foram identificadas no gene da tireoglobulina. Objetivos: Este estudo visou caracterizar mutações no gene da tireoglobulina em 13 pacientes brasileiros com bócio e hipotireoidismo congênito e verificar o efeito funcional da mutação A2215D identificada neste estudo. Casuística e Métodos: Foram estudados 13 pacientes com hipotireoidismo congênito por possível defeito de síntese de tireoglobulina. Foi utilizado DNA de sangue periférico de todos os pacientes e amostra de tecido da paciente portadora da mutação A2215D. Os métodos utilizados foram: amplificação e sequenciamento dos 48 exons e das junções exon/intron, transfecção de células de mamífero com plasmídeos contendo o cDNA da tireoglobulina mutada e não mutada, eletroforese de proteínas e hibridização com anticorpo específico, dosagem de tireoglobulina por fluoroimunoensaio indireto, quantificação de RNAm por PCR quantitativo em tempo real, imunohistoquímica, microscopia por coloração de hematoxilina/eosina e microscopia eletrônica e imunoeletrónica. Resultados: O defeito de síntese de tireoglobulina nos pacientes foi confirmado pela ausência de elevação do valor da tireoglobulina sérica 24 e 48hs após a aplicação de 0,45mg de TSH humano recombinante. No gene da tireoglobulina foram identificadas cinco mutações, sendo duas novas (Q2142X e IVS46-1G>A) e três já descritas na literatura (R277X, IVS30+1G>T e A2215D); 19 polimorfismos e 13 alterações em introns. Doze dos treze pacientes apresentaram mutações bialélicas (homozigose ou em heterozigose composta). O estudo funcional em células de mamíferos revelou diminuição da secreção da proteína mutada e no tecido do paciente portador da mutação A2215D mostrou: localização intracelular da tireoglobulina com ausência quase total no colóide; retículo endoplasmático rugoso de volume extremamente aumentado, presença de tireoglobulina dentro do retículo endoplasmático rugoso e baixo conteúdo de RNAm de tireoglobulina e da própria proteína. Também foram verificados baixo conteúdo de RNAm de genes tireoideanos (TPO, TTF1, PAX-8, NIS, receptor de TSH). Conclusão: Todas as mutações identificadas neste estudo explicaram o hipotireoidismo congênito diagnosticado nos pacientes. A mutação A2215D promoveu a retenção da proteína mutada dentro do retículo endoplasmático rugoso e diminuiu sua secreção para o colóide, ocasionando grave defeito de síntese hormonal e hipotireoidismo. A tireoglobulina endógena portadora da mutação A2215D poderia atuar como regulador da função tireoideana via supressão da expressão dos fatores de transcrição importantes na fisiologia da tireóide. / Introduction: Congenital hypothyroidism is one of the most common hereditary endocrine disorders, which affects 1:4000 newborns. Congenital hypothyroidism is caused by thyroid gland dysgenesis (80%) or inborn errors of thyroid hormone synthesis (20%). Genetic defects in thyroglobulin, pendrin, thyroperoxidase, dual oxidase 2, simporter sodium/iodine have been associated to dyshormonogenesis. Thyroglobulin is a large glycoprotein that functions as the matrix for thyroid hormone synthesis. At least 38 mutations in the TG gene have been identified in patients with thyroid dyshormonogenesis. Objectives: The aims of this study were to identify thyroglobulin gene mutations associated with congenital hypothyroidism in 13 Brazilian patients, and to determine the functional effect of the mutation A2215D identified in this study. Patients and methods: Thirteen patients with congenital hypothyroidism due to defective thyroglobulin synthesis were included. Peripheral blood DNA from all the patients and one thyroid tissue sample from a patient with the A2215D mutation were collected. Thyroglobulin exons and exons/introns borders were amplified by PCR and sequenced. Mammalian cells were transfected with expression vectors encoding mutated and non-mutated thyroglobulin cDNA. Immunoblots, determination of thyroglobulin concentrations, real time PCR to quantify mRNA expression, immunohistochemical analysis, hematoxilyn-eosin staining and electronic and immunogold microscopy were performed. Results Abnormal thyroglobulin synthesis and secretion was confirmed by the absence of a serum thyroglobulin elevation 24 and 48 hours after the stimulation with recombinant human TSH (0.45 mg). Molecular analysis revealed five mutations in the thyroglobulin gene, 2 novel (Q2142X and IVS46-1G>A) and three previously described mutations (R277X, IVS30+1G>T and A2215D); 19 polymorphisms and 13 intronic alterations. Biallelic mutations (homozygous or compound heterozygous) in the thyroglobulin gene were identified in twelve of thirteen patients. Functional studies in mammallian cells showed low secretion of the mutated thyroglobulin (A2215D). The complete analysis of the thyroid tissue from a patient with the A2215D mutation revealed: mutant thyroglobulin in the follicular cell but not in the lumen, marked dilatation of the endoplasmic reticulum, thyroglobulin immunopositivity in the endoplasmic reticulum and low concentration of thyroglobulin protein and mRNA. Furthermore, low mRNA levels of thyroid genes (TPO, TTF1, PAX-8, NIS, receptor de TSH) were detected. Conclusions: All the identified thyroglobulin gene mutations explained the congenital goiter hypothyroidism of the patients. The mutation A2215D promoted the retention of the mutant thyroglobulin in the endoplasmic reticulum, decreased the thyroglobulin secretion to the colloid resulting in an impairment of thyroid hormone synthesis and congenital hypothyroidism. The endogenous A2215D mutant thyroglobulin could be considered a regulator of follicular function mediated by the transcriptional suppression of thyroid genes.

Submitted by Sarah de Lima Alloufa da Silveira (sarah_alloufa@yahoo.com.br) on 2017-02-14T17:11:12Z No. of bitstreams: 1 Dissertação de Mestrado - Sarah Alloufa.pdf: 1243465 bytes, checksum: 513c08d3ce0e0ee3c45008a9ba9114b5 (MD5) / Rejected by LUIZA DE MENEZES ROMANETTO (luizamenezes@reitoria.unesp.br), reason: Solicitamos que realize uma nova submissão seguindo a orientação abaixo: Incluir o número do processo de financiamento nos agradecimentos da dissertação/tese. Corrija esta informação e realize uma nova submissão com o arquivo correto. Agradecemos a compreensão on 2017-02-16T15:23:53Z (GMT) / Submitted by Sarah de Lima Alloufa da Silveira (sarah_alloufa@yahoo.com.br) on 2017-02-24T20:01:59Z No. of bitstreams: 1 Dissertação de Mestrado - Sarah Alloufa.pdf: 1243465 bytes, checksum: 513c08d3ce0e0ee3c45008a9ba9114b5 (MD5) / Approved for entry into archive by LUIZA DE MENEZES ROMANETTO (luizamenezes@reitoria.unesp.br) on 2017-03-06T16:21:58Z (GMT) No. of bitstreams: 1 silveira_sla_me_bot.pdf: 1243465 bytes, checksum: 513c08d3ce0e0ee3c45008a9ba9114b5 (MD5) / Made available in DSpace on 2017-03-06T16:21:58Z (GMT). No. of bitstreams: 1 silveira_sla_me_bot.pdf: 1243465 bytes, checksum: 513c08d3ce0e0ee3c45008a9ba9114b5 (MD5) Previous issue date: 2017-02-14 / INTRODUÇÃO: A incidência da sífilis congênita (SC) mais que dobrou na última década, sendo um importante problema de saúde pública e agravo de morbimortalidade perinatal. OBJETIVOS: Determinar a incidência de sífilis congênita e comparar dois períodos: 2011-2012 versus 2013-2014; Caracterizar o perfil dos recém-nascidos (RN) e suas mães; Determinar as principais formas de apresentação; Avaliar o seguimento dos expostos e estabelecer um fluxograma para o acompanhamento ambulatorial. METODOLOGIA: Estudo epidemiológico, retrospectivo, longitudinal, realizado no período de janeiro de 2011 a dezembro de 2014. Selecionados todos os casos notificados de mães com VDRL positivo e seus RN. Os dados foram coletados dos registros de notificação da Vigilância Epidemiológica e dos registros da Unidade Neonatal. Amostra de conveniência. Variáveis maternas: idade, pré-natal, uso de drogas, sorologia para sífilis, tratamento adequado, tratamento do parceiro e tipo de parto. Variáveis neonatais: peso ao nascer, idade gestacional, apgar, manifestações clínicas, sorologia para sífilis e exames complementares. Variáveis pós neonatais: líquor, avaliação auditiva, oftalmológica e sorologia aos 18 meses. Estatística descritiva com cálculo de proporções, testes não paramétricos com significancia se p<0.05. RESULTADOS: A incidência de SC foi de 21/1000 nascidos vivos (NV) aumentando entre os periodos de 18,5/1000 NV para 23,5 /1000 NV. A idade média materna foi de 24 anos (30% adolescentes), a maioria realizou pré-natal (87%). O tratamento adequado ocorreu em apenas 15% dos casos. Os parceiros foram tratados em 35% dos casos. 86% dos RN apresentaram VDRL positivo, 70% foram assintomáticos. As manifestações mais frequentes foram: neurossífilis (30%), prematuridade (25%), baixo peso ao nascer (24%), pequeno para idade gestacional (13%), anemia (10%), plaquetopenia (7%) e hepatoesplenomegalia (3%). A maioria dos pacientes não realizou seguimento e houve baixa adesão na avaliação oftalmológica e auditiva. CONCLUSÃO: A incidência de SC foi alta e aumentou entre os períodos. Embora tenha ocorrido ampla cobertura pré-natal, esta não foi eficaz, uma vez que a maioria das mães não trataram sífilis adequadamente, principalmente pela falta de tratamento do parceiro. A maioria dos RN foi assintomática, e a adesão ao seguimento dessas crianças foi baixa. SC continua sendo um grave problema de saúde pública. / INTRODUCTION: The incidence of congenital syphilis (CS) has more than doubled in the last decade, being an important public health problem and aggravating perinatal morbidity and mortality. OBJECTIVES: To determine the incidence of congenital syphilis and compare two periods: 2011-2012 versus 2013-2014; Characterize the profile of newborns and their mothers; Determine the main forms of presentation; Evaluate the follow-up of those exposed and establish an outpatient follow-up flowchart. METHODS: Epidemiological, retrospective, longitudinal study, carried out from January 2011 to December 2014. All reported cases of mothers with positive VDRL and their newborns were selected. Data were collected from Epidemiological Surveillance records and Neonatal Unit records. Convenience sample. Maternal variables: age, prenatal, drug use, serology for syphilis, adequate treatment, partner treatment and type of delivery. Neonatal variables: birth weight, gestational age, apgar, clinical manifestations, serology for syphilis and complementary tests. Post neonatal variables: cerebrospinal fluid, auditory and ophthalmologic evaluation and serology at 18 months. Descriptive statistics with proportions calculation, non-parametric tests with significance if p <0.05. RESULTS: Incidence of CS was 21/1000 live births (LB) increasing between the periods from 18.5/1000 LB to 23.5/1000 LB. The mean maternal age was 24 years (30% adolescents), the majority performed prenatal care (87%). Adequate treatment occurred in only 15% of cases. The partners were treated in 35% of cases. 86% of the newborns presented positive VDRL, 70% were asymptomatic. The most frequent manifestations were: Neurosyphilis (30%), prematurity (25%), low birth weight (24%), small for gestational age (13%), anemia (10%), thrombocytopenia (7%) and hepatosplenomegaly (3%). Most of the patients did not follow up and there was a low adhesion in ophthalmologic and auditory evaluation. CONCLUSION: The incidence of CS was high and increased between the periods. Although there was extensive prenatal coverage, this was not effective, since most mothers did not treat syphilis adequately, mainly due to inadequate treatment of the partner. Most of the newborns were asymptomatic, and adherence to post-neonatal follow-up of these children was low. CS continues to be a serious health problem.