The burden of coronary heart disease in simultaneous pancreas-kidney transplantation: coronary angiography as a diagnostic method for all? - a retrospective study / O peso da doença arterial coronariana no transplante de pâncreas-rim simultâneo: angiografia coronária como método diagnóstico para todos? - um estudo retrospectivo

Abstract Introduction: Type 1 diabetes mellitus is associated with an increased risk of coronary artery disease, which is frequently asymptomatic. This risk increases significantly in those with nephropathy. In selected patients, simultaneous pancreas-kidney transplantation is the renal and pancreatic replacement therapy of choice, as it increases longevity and stabilizes diabetic complications. Despite essential, universal screening protocols are still controversial for coronary artery disease in this population. Methods: We retrospectively analysed 99 simultaneous pancreas-kidney recipients from our centre from 2011 to 2018 and selected 77 patients who underwent coronary angiography during the pre-transplant evaluation. Our aim was to identify potential risk factors associated with significant lesions on coronary angiography. Results: Almost half of our cohort of 77 candidates submitted to coronary angiography had coronary artery disease. Of these, nearly 30% underwent revascularization, although only one of them reported symptoms of myocardial ischemia. In a univariate analysis, the presence of smoking habits was the only risk factor for coronary artery disease. We also found that 20 or more years of type 1 diabetes mellitus was significantly associated with the presence of coronaropathy. Discussion: Selection of diabetic candidates with acceptable cardiac risk before simultaneous pancreas-kidney transplantation is imperative. Given the impact of a correct diagnosis and a low procedural risk, we defend the routine use of coronary angiography as the initial screening method for coronary artery disease in this population. Particularly care must be taken in evaluating asymptomatic patients with long-term type 1 diabetes mellitus and smokers.

Resumo Introdução: O diabetes mellitus tipo 1 está associado ao risco aumentado de doença arterial coronariana, que é frequentemente assintomática. Este risco aumenta significativamente em pessoas com nefropatia. Em pacientes selecionados, o transplante de pâncreas- rim simultâneo é a terapia substitutiva, renal e pancreática, de escolha, pois aumenta a longevidade e estabiliza complicações diabéticas. Apesar de essenciais, protocolos de triagem universais ainda são controversos para doença arterial coronariana nesta população. Métodos: Analisamos retrospectivamente 99 receptores de pâncreas-rim simultâneo de nosso centro, de 2011 a 2018, e selecionamos 77 pacientes que realizaram angiografia coronária durante avaliação pré-transplante. Nosso objetivo foi identificar fatores de risco potenciais associados a lesões significativas na angiografia coronária. Resultados: Quase metade de nossa coorte de 77 candidatos submetidos à angiografia coronária apresentou doença arterial coronariana. Destes, quase 30% foram submetidos à revascularização, embora apenas um tenha relatado sintomas de isquemia miocárdica. Em uma análise univariada, a presença do hábito de fumar foi o único fator de risco para doença arterial coronariana. Também descobrimos que 20 ou mais anos de diabetes mellitus tipo 1 estavam significativamente associados à presença de coronariopatia. Discussão: A seleção de candidatos diabéticos com risco cardíaco aceitável antes do transplante de pâncreas-rim simultâneo é imperativa. Dado o impacto de um diagnóstico correto e baixo risco de procedimento, defendemos o uso rotineiro da angiografia coronária como método de triagem inicial para doença arterial coronariana nesta população. Deve-se ter um cuidado especial na avaliação de pacientes assintomáticos com diabetes mellitus tipo 1 de longa duração e fumantes.

The burden of coronary heart disease in simultaneous pancreas-kidney transplantation: coronary angiography as a diagnostic method for all? - a retrospective study.

INTRODUCTION: Type 1 diabetes mellitus is associated with an increased risk of coronary artery disease, which is frequently asymptomatic. This risk increases significantly in those with nephropathy. In selected patients, simultaneous pancreas-kidney transplantation is the renal and pancreatic replacement therapy of choice, as it increases longevity and stabilizes diabetic complications. Despite essential, universal screening protocols are still controversial for coronary artery disease in this population. METHODS: We retrospectively analysed 99 simultaneous pancreas-kidney recipients from our centre from 2011 to 2018 and selected 77 patients who underwent coronary angiography during the pre-transplant evaluation. Our aim was to identify potential risk factors associated with significant lesions on coronary angiography. RESULTS: Almost half of our cohort of 77 candidates submitted to coronary angiography had coronary artery disease. Of these, nearly 30% underwent revascularization, although only one of them reported symptoms of myocardial ischemia. In a univariate analysis, the presence of smoking habits was the only risk factor for coronary artery disease. We also found that 20 or more years of type 1 diabetes mellitus was significantly associated with the presence of coronaropathy. DISCUSSION: Selection of diabetic candidates with acceptable cardiac risk before simultaneous pancreas-kidney transplantation is imperative. Given the impact of a correct diagnosis and a low procedural risk, we defend the routine use of coronary angiography as the initial screening method for coronary artery disease in this population. Particularly care must be taken in evaluating asymptomatic patients with long-term type 1 diabetes mellitus and smokers.

Impact of the COVID-19 pandemic on breast and cervical cancer stage at diagnosis in Brazil.

BACKGROUND: The COVID-19 pandemic has led to the need for health services adjustments, which may have compromised management of other diseases. For cancer patients, delays may significantly impair outcomes in some situations. We aimed to assess the impact of the COVID-19 pandemic in breast and cervical cancer diagnosis and treatment compared to the same period prior to the pandemic. METHODS: Data were collected from patients attending their first visit to a Brazilian cancer centre from 1 September 2020 to 31 January 2021 and from 1 September 2019 to 31 January 2020. The pandemic started in February 2020 in Brazil and is still ongoing. We considered this period (September/20-January/21) to be representative of the pandemic impact on cancer management. The primary endpoint was breast and cervical cancer stages at diagnosis. RESULTS: A total of 268 breast cancer patients and 44 cervical cancer patients had their first consult in our cancer centre from September/20 to January/21; 457 and 60, respectively, occurred from September/19 to January/20. Patients who attended their first visit during the pandemic (September/20-January/21) presented with more advanced-stage breast cancer (p < 0.001) and cervical cancer (p = 0.328) than those in the period prior to the pandemic (September/19-January/20), although the difference was not statistically significant for cervical cancer. The proportion of cervical cancer patients diagnosed with locally advanced disease (stages III-IVA) was 56.8% (N = 25) in September/20-January/21 compared to 43.3% (N = 26) in September/19-January/20. Similarly, 37.3% (N = 100) of breast cancer patients had stage III disease in September/20-January/21 compared to 23.2% (N = 106) in September/19-January/20. Fewer breast cancer patients (13.7%) were diagnosed due to screening tests during the pandemic than before it (25.5%) (p < 0.001). CONCLUSIONS: Breast and cervical cancer patients had more advanced-stage diseases in their first visit to a cancer centre during the COVID-19 pandemic compared to a similar period prior to the pandemic. Efforts should be made not to compromise essential cancer services since this results in long-term negative impacts for oncologic patients.

Latent leprosy infection identified by dual RLEP and anti-PGL-I positivity: Implications for new control strategies.

The number of new cases of leprosy reported worldwide has remained essentially unchanged for the last decade despite continued global use of free multidrug therapy (MDT) provided to any diagnosed leprosy patient. In order to more effectively interrupt the chain of transmission, new strategies will be required to detect those with latent disease who contribute to furthering transmission. To improve the ability to diagnose leprosy earlier in asymptomatic infected individuals, we examined the combined use of two well-known biomarkers of M. leprae infection, namely the presence of M. leprae DNA by PCR from earlobe slit skin smears (SSS) and positive antibody titers to the M. leprae-specific antigen, Phenolic Glycolipid I (anti-PGL-I) from leprosy patients and household contacts living in seven hyperendemic cities in the northern state of Pará, Brazilian Amazon. Combining both tests increased sensitivity, specificity and accuracy over either test alone. A total of 466 individuals were evaluated, including 87 newly diagnosed leprosy patients, 52 post-treated patients, 296 household contacts and 31 healthy endemic controls. The highest frequency of double positives (PGL-I+/RLEP+) were detected in the new case group (40/87, 46%) with lower numbers for treated (12/52, 23.1%), household contacts (46/296, 15.5%) and healthy endemic controls (0/31, 0%). The frequencies in these groups were reversed for double negatives (PGL-I-/RLEP-) for new cases (6/87, 6.9%), treated leprosy cases (15/52, 28.8%) and the highest in household contacts (108/296, 36.5%) and healthy endemic controls (24/31, 77.4%). The data strongly suggest that household contacts that are double positive have latent disease, are likely contributing to shedding and transmission of disease to their close contacts and are at the highest risk of progressing to clinical disease. Proposed strategies to reduce leprosy transmission in highly endemic areas may include chemoprophylactic treatment of this group of individuals to stop the spread of bacilli to eventually lower new case detection rates in these areas.

Confiança seletiva em crianças pré-escolares: uma revisão sistemática / La confiança selectiva: una revisión sistemática / Selective trust in preschoolers: a systematic review

RESUMO. Embora o campo de estudos sobre confiança seletiva tenha ganhado destaque nos últimos anos, essa linha de pesquisa não é ainda suficientemente divulgada no Brasil. A presente revisão sistemática teve como objetivo avaliar a produção científica sobre confiança seletiva em crianças pré-escolares, bem como sobre possíveis variáveis que influenciam os julgamentos de confiança. A busca foi realizada nas bases de dados PSYCINFO, Scielo Brasil, PEPSIC e LILACS, utilizando-se as palavras-chave selective trust, epistemic trust e seus correspondentes em português 'confiança seletiva' e 'confiança epistêmica'. De um total de 103 trabalhos, foram analisados 45 artigos empíricos, publicados entre 2008 e 2018, seguindo o protocolo PRISMA. Contrariando uma crença predominante em muitas culturas de que as crianças acreditam em tudo o que ouvem, elas não são consumidoras ingênuas de informação. Discutem-se os efeitos de variáveis individuais e contextuais sobre os julgamentos de confiança seletiva que apontam para direções futuras promissoras de pesquisa.

RESUMEN. Aunque el campo de estudios sobre confianza selectiva ha ganado destaque en los últimos años, esta línea de investigación aún no ha sido suficientemente divulgada en Brasil. En la presente revisión sistemática se tuvo como objetivo evaluar la producción científica sobre confianza selectiva en niños preescolares, así como sobre posibles variables que influencian los juicios de confianza. La búsqueda fue realizada en las bases de datos PSYINFO, Scielo Brasil, PEPSIC y LILACS, utilizando las palabras clave selective trust, epistemic trust y sus correspondientes en portugués 'confiança seletiva' y 'confiança epistémica'. De un total de 103 estudios, se analizaron 45 artículos empíricos, publicados entre 2008 y 2018, siguiendo el protocolo PRISMA. Contrariando una creencia predominante en muchas culturas de que los niños creen en todo lo que oyen, ellos no son consumidores ingenuos de información. Se discuten los efectos de variables individuales y contextuales sobre los juicios de confianza selectiva que apuntan a futuras direcciones prometedoras de investigación.

ABSTRACT. Although the field of studies on selective trust has gained much attention in recent years, this line of research is not yet sufficiently publicized in Brazil. The present systematic review aimed to assess scientific evidence on selective trust in preschool children, as well as on possible variables influencing trust judgements. The search was performed in PSYCINFO, ScieloBrasil, PEPSIC and LILACS, using the keywords 'selective trust', 'epistemic trust' and their correspondents in Portuguese confiança seletiva and confiança epistêmica. From a total of 103 studies found, 45 empirical articles, published between 2008 and 2018, were analyzed using the PRISMA protocol. In contrast to a predominant view in many cultures that children believe everything they hear, they are not naïve consumers of information. Effects of individual and contextual variables on selective trust judgments are discussed, which point to promising future research directions.

Polymerization Shrinkage Evaluation of Restorative Resin-Based Composites Using Fiber Bragg Grating Sensors.

The purpose of this study was to compare the linear polymerization shrinkage of different restorative resin-based composites (RBCs) using fiber Bragg grating (FBG) sensors. Five RBCs were evaluated: Zirconfill® (ZFL); Aura Bulk-Fill (ABF); Tetric® N-Ceram Bulk-Fill (TBF); FiltekTM Bulk-Fill (FBF); and Admira Fusion-Ormocer® (ADF). Ten samples per resin were produced in standardized custom-made half-gutter silicone molds. Two optical FBG sensors were used to assess temperature and polymerization shrinkage. Light curing was performed for 40 s and polymerization shrinkage was evaluated at 5, 10, 40, 60, 150, and 300 s. Statistical analysis was accomplished for normal distribution (Shapiro-Wilk, p > 0.05). Two-way repeated measures ANOVA with Greenhouse-Geisser correction followed by Bonferroni's post-hoc test was used to analyze the linear shrinkage data (p < 0.05). ZFL showed the highest linear shrinkage and ADF the lowest. Shrinkage increased for all RBCs until 300 s, where significant differences were found between ADF and all other resins (p < 0.05). Among bulk-fill RBCs, TBF showed the lowest shrinkage value, but not statistically different from FBF. The ADF presented lower linear shrinkage than all other RBCs, and restorative bulk-fill composites exhibited an intermediate behavior.

Evaluation of Immunodiagnostic Tests for Leprosy in Brazil, China and Ethiopia.

Leprosy remains persistently endemic in several low- or middle income countries. Transmission is still ongoing as indicated by the unabated rate of leprosy new case detection, illustrating the insufficiency of current prevention methods. Therefore, low-complexity tools suitable for large scale screening efforts to specifically detect M. leprae infection and diagnose disease are required. Previously, we showed that combined detection of cellular and humoral markers, using field-friendly lateral flow assays (LFAs), increased diagnostic potential for detecting leprosy in Bangladesh compared to antibody serology alone. In the current study we assessed the diagnostic performance of similar LFAs in three other geographical settings in Asia, Africa and South-America with different leprosy endemicity. Levels of anti-PGL-I IgM antibody (humoral immunity), IP-10, CCL4 and CRP (cellular immunity) were measured in blood collected from leprosy patients, household contacts and healthy controls from each area. Combined detection of these biomarkers significantly improved the diagnostic potential, particularly for paucibacillary leprosy in all three regions, in line with data obtained in Bangladesh. These data hold promise for the use of low-complexity, multibiomarker LFAs as universal tools for more accurate detection of M. leprae infection and different phenotypes of clinical leprosy.

miRNome Expression Analysis Reveals New Players on Leprosy Immune Physiopathology.

Leprosy remains as a public health problem and its physiopathology is still not fully understood. MicroRNAs (miRNA) are small RNA non-coding that can interfere with mRNA to regulate gene expression. A few studies using DNA chip microarrays have explored the expression of miRNA in leprosy patients using a predetermined set of genes as targets, providing interesting findings regarding the regulation of immune genes. However, using a predetermined set of genes restricted the possibility of finding new miRNAs that might be involved in different mechanisms of disease. Thus, we examined the miRNome of tuberculoid (TT) and lepromatous (LL) patients using both blood and lesional biopsies from classical leprosy patients (LP) who visited the Dr. Marcello Candia Reference Unit in Sanitary Dermatology in the State of Pará and compared them with healthy subjects. Using a set of tools to correlate significantly differentially expressed miRNAs with their gene targets, we identified possible interactions and networks of miRNAs that might be involved in leprosy immunophysiopathology. Using this approach, we showed that the leprosy miRNA profile in blood is distinct from that in lesional skin as well as that four main groups of genes are the targets of leprosy miRNA: (1) recognition and phagocytosis, with activation of immune effector cells, where the immunosuppressant profile of LL and immunoresponsive profile of TT are clearly affected by miRNA expression; (2) apoptosis, with supportive data for an antiapoptotic leprosy profile based on BCL2, MCL1, and CASP8 expression; (3) Schwann cells (SCs), demyelination and epithelial-mesenchymal transition (EMT), supporting a role for different developmental or differentiation gene families, such as Sox, Zeb, and Hox; and (4) loss of sensation and neuropathic pain, revealing that RHOA, ROCK1, SIGMAR1, and aquaporin-1 (AQP1) may be involved in the loss of sensation or leprosy pain, indicating possible new therapeutic targets. Additionally, AQP1 may also be involved in skin dryness and loss of elasticity, which are well known signs of leprosy but with unrecognized physiopathology. In sum, miRNA expression reveals new aspects of leprosy immunophysiopathology, especially on the regulation of the immune system, apoptosis, SC demyelination, EMT, and neuropathic pain.

Effect of Nebivolol on MIBG Parameters and Exercise in Heart Failure with Normal Ejection Fraction / Efeito do Nebivolol sobre Parâmetros do MIBG e Exercício na Insuficiência Cardíaca com Fração de Ejeção Normal

Abstract Background: More than 50% of the patients with heart failure have normal ejection fraction (HFNEF). Iodine-123 metaiodobenzylguanidine (123I-MIBG) scintigraphy and cardiopulmonary exercise test (CPET) are prognostic markers in HFNEF. Nebivolol is a beta-blocker with vasodilating properties. Objectives: To evaluate the impact of nebivolol therapy on CPET and123I-MIBG scintigraphic parameters in patients with HFNEF. Methods: Twenty-five patients underwent 123I-MIBG scintigraphy to determine the washout rate and early and late heart-to-mediastinum ratios. During the CPET, we analyzed the systolic blood pressure (SBP) response, heart rate (HR) during effort and recovery (HRR), and oxygen uptake (VO2). After the initial evaluation, we divided our cohort into control and intervention groups. We then started nebivolol and repeated the tests after 3 months. Results: After treatment, the intervention group showed improvement in rest SBP (149 mmHg [143.5-171 mmHg] versus 135 mmHg [125-151 mmHg, p = 0.016]), rest HR (78 bpm [65.5-84 bpm] versus 64.5 bpm [57.5-75.5 bpm, p = 0.028]), peak SBP (235 mmHg [216.5-249 mmHg] versus 198 mmHg [191-220.5 mmHg], p = 0.001), peak HR (124.5 bpm [115-142 bpm] versus 115 bpm [103.7-124 bpm], p= 0.043), HRR on the 1st minute (6.5 bpm [4.75-12.75 bpm] versus 14.5 bpm [6.7-22 bpm], p = 0.025) and HRR on the 2nd minute (15.5 bpm [13-21.75 bpm] versus 23.5 bpm [16-31.7 bpm], p = 0.005), but no change in peak VO2 and 123I-MIBG scintigraphic parameters. Conclusion: Despite a better control in SBP, HR during rest and exercise, and improvement in HRR, nebivolol failed to show a positive effect on peak VO2 and 123I-MIBG scintigraphic parameters. The lack of effect on adrenergic activity may be the cause of the lack of effect on functional capacity.

Resumo Fundamento: Mais de 50% dos pacientes com insuficiência cardíaca têm fração de ejeção preservada (ICFEN). A cintilografia marcada com iodo 123 com metaiodobenzilguanidina (123I-MIBG) e o teste cardiopulmonar do exercício (TCPE) são marcadores de prognóstico da ICFEN. O nebivolol é um betabloqueador com propriedade vasodilatadora. Objetivos: Avaliar o impacto da terapia com nebivolol sobre as variáveis da cintilografia com 123I-MIBG e do TCPE em pacientes com ICFEN. Métodos: Vinte e cinco pacientes realizaram cintilografia com 123I-MIBG para avaliar a taxa de washout e a relação coração/mediastino precoce e tardia. Durante o TCPE, foi analisado o comportamento da pressão arterial sistólica (PAS), frequência cardíaca (FC) durante o esforço e a recuperação (FCR) e o consumo de oxigênio (VO2). Após avaliação inicial, separamos nossa amostra em grupos controle versus intervenção, iniciamos o nebivolol e repetimos os exames após 3 meses. Resultados: Após o tratamento, o grupo intervenção apresentou melhora na PAS (149 mmHg [143,5-171 mmHg] versus 135 mmHg [125-151 mmHg, p = 0,016]), FC em repouso (78 bpm [65,5-84 bpm] versus 64,5 bpm [57,5-75,5 bpm, p = 0,028]), PAS no pico do esforço (235 mmHg [216,5-249 mmHg] versus 198 mmHg [191-220,5 mmHg], p = 0,001), FC no pico do esforço (124,5 bpm [115-142 bpm] versus 115 bpm [103,7-124 bpm], p = 0,043) e FCR no 1º minuto (6,5 bpm [4,75-12,75 bpm] versus 14,5 bpm [6,7-22 bpm], p = 0,025) e no 2º minuto (15,5 bpm [13-21,75 bpm] versus 23,5 bpm [16-31,7 bpm], p = 0,005), porém não apresentou mudança no VO2 de pico e nos parâmetros da cintilografia com 123I-MIBG. Conclusão: Apesar de um melhor controle da PAS e na FC em repouso e durante o esforço e uma melhora na FCR, o nebivolol não ocasionou efeito positivo sobre o VO2 de pico e nos parâmetros da cintilografia com 123I-MIBG. A ausência de efeito sobre a atividade adrenérgica pode ser a causa da falta de efeito sobre a capacidade funcional.

Effect of Nebivolol on MIBG Parameters and Exercise in Heart Failure with Normal Ejection Fraction.

BACKGROUND: More than 50% of the patients with heart failure have normal ejection fraction (HFNEF). Iodine-123 metaiodobenzylguanidine (123I-MIBG) scintigraphy and cardiopulmonary exercise test (CPET) are prognostic markers in HFNEF. Nebivolol is a beta-blocker with vasodilating properties. OBJECTIVES: To evaluate the impact of nebivolol therapy on CPET and123I-MIBG scintigraphic parameters in patients with HFNEF. METHODS: Twenty-five patients underwent 123I-MIBG scintigraphy to determine the washout rate and early and late heart-to-mediastinum ratios. During the CPET, we analyzed the systolic blood pressure (SBP) response, heart rate (HR) during effort and recovery (HRR), and oxygen uptake (VO2). After the initial evaluation, we divided our cohort into control and intervention groups. We then started nebivolol and repeated the tests after 3 months. RESULTS: After treatment, the intervention group showed improvement in rest SBP (149 mmHg [143.5-171 mmHg] versus 135 mmHg [125-151 mmHg, p = 0.016]), rest HR (78 bpm [65.5-84 bpm] versus 64.5 bpm [57.5-75.5 bpm, p = 0.028]), peak SBP (235 mmHg [216.5-249 mmHg] versus 198 mmHg [191-220.5 mmHg], p = 0.001), peak HR (124.5 bpm [115-142 bpm] versus 115 bpm [103.7-124 bpm], p= 0.043), HRR on the 1st minute (6.5 bpm [4.75-12.75 bpm] versus 14.5 bpm [6.7-22 bpm], p = 0.025) and HRR on the 2nd minute (15.5 bpm [13-21.75 bpm] versus 23.5 bpm [16-31.7 bpm], p = 0.005), but no change in peak VO2 and 123I-MIBG scintigraphic parameters. CONCLUSION: Despite a better control in SBP, HR during rest and exercise, and improvement in HRR, nebivolol failed to show a positive effect on peak VO2 and 123I-MIBG scintigraphic parameters. The lack of effect on adrenergic activity may be the cause of the lack of effect on functional capacity.

Aplicação de metodologias de segmentação de imagem para medição automatizada dos níveis ósseos de implantes em radiografias periapicais padronizadas / Application of image segmentation methods for automated implant bone level measurements in periapical standardized radiographs

Objetivo: validar um método automatizado para a determinação de níveis ósseos de implantes. Material e métodos: dois examinadores analisaram 60 radiografias de implantes (Camlog Screw-Line) através de uma interface gráfica desenvolvida para a aplicação do método de segmentação de imagem. O processo baseou-se na aplicação de uma série de passos automatizados para isolar a crista óssea e os implantes, a fim de computar a intersecção entre o osso e o implante. Os níveis ósseos foram posteriormente computados através da determinação da distância entre o primeiro contato osso-implante e o ombro do implante. A concordância e a exatidão do método foram determinadas por comparação dos níveis ósseos obtidos pelo método com os correspondentes obtidos manualmente. Resultados: não foram determinadas diferenças entre os resultados das medições manuais e as obtidas através do método de segmentação (teste Anova para medidas repetidas, p=0,852). A análise de concordância revelou um coeficiente de correlação intraclasse de 0,839 ([0,783-0,884, 95% IC], p < 0,01). Mais de 60% das medições foram consideradas exatas. Conclusões: o método proposto provou ser uma ferramenta precisa e fidedigna para a medição de níveis ósseos, contribuindo para a diminuição da variabilidade entre observadores.

O mosaicismo cromossômico em amostra de vilo corial / Chromosome mosaicism in chorionic villus sampling

Este trabalho relata o estudo cromossômico de 1752 AVC realizadas pelo método direto modificado (cultura de 24 horas). O mosaicismo cromossômico representou 1,9 por cento da amostra total (34/1752). Mosaicismo envolvendo cromossomos autossômicos foi observado em 64,7 por cento (22/34), mosaicismo envolvendo cromossomos sexuais em 23,5 por cento dos casos (8/34), mosaicismo envolvendo poliploidia em 5,9 por cento (2/34); um caso (2,9 por cento) envolveu um cromossomo marcador e outro, um rearranjo entre um autossomo e um cromossomo sexual. O mosaicismo placentário confinado representou 58,8 por cento dos casos de mosaicismo (20/34) enquanto que o mosaicismo verdadeiro esteve presente em 14,7 por cento dos casos (5/34). Nós perdemos contato com uma paciente e uma outra abortou antes da realizaçao da amniocentese. Os seguimentos citogenéticos em 7 casos nao foram realizados porque 5 das 7 (l4,7 por cento) decidiram interromper a gestaçao após o resultado da AVC e duas pacientes (5,9 por cento) prosseguiram a gestaçao e relataram que as crianças, ao nascerem, eram clinicamente normais.