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ABSTRACT Purpose: This study aimed to assess grating visual acuity and functional vision in children with congenital Zika syndrome. Methods: Initial and final grating visual acuity was measured using Teller acuity cards. Cerebral vision impairment standardized tests were used to assess functional vision. Patients were referred to the early visual intervention program for visually disabled children. Neuroimaging was performed. Results: In this study, 10 children were included with an age range of 1-37 months. Eight patients presented with macular atrophic scars. Neuroimaging revealed microcephaly and cerebral abnormalities in all patients. Low vision and cerebral vision impairment characteristics were observed in all children. The final grating visual acuity in this group varied from 3.00 to 0.81 logMAR. Conclusions: The grating visual acuity test revealed low vision in all children with congenital Zika syndrome. Functional vision evaluation revealed cerebral vision impairment characteristics in all patients, who were referred to the early visual intervention program. Visual acuity improved in six children.
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The Zika virus (ZIKV) epidemic had a sanitary, psychosocial, and economic impact on individuals of reproductive age. The primary concern revolved around infection during pregnancy due to possible vertical transmission and its association with adverse fetal and infant outcomes, known as Congenital Zika Syndrome (CZS). This qualitative study employs phenomenology and grounded theory. This study includes interviews with 98 women, some pregnant during the ZIKV epidemic in Brazil, Colombia, and Puerto Rico, who had children with CZS or without diagnosed neurological impairment. Additionally, the study included a group of women who were pregnant during the COVID-19 pandemic in these same countries. In both groups, interviewees had varying levels of knowledge about ZIKV. The study found that messages conveyed through the media tended to be alarmist, in contrast to the information provided by healthcare professionals, which was considered more trustworthy. Pregnant women during the ZIKV epidemic reported receiving their ZIKV and CSZ infection diagnoses late, either during or after childbirth. The study underscores the needs of pregnant women in high-risk scenarios, the importance of health education processes, and the necessity to reinforce communication and continuing education.
A epidemia do vírus Zika (ZIKV) teve impacto sanitário, psicossocial e econômico sobre pessoas em idade reprodutiva. A principal preocupação foi a infecção durante a gravidez devido a possível transmissão vertical e sua associação com resultados fetais e infantis adversos, conhecida como síndrome congênita associada à infecção pelo Vírus Zika (SCZ). Este estudo qualitativo utiliza a fenomenologia e a teoria fundamentada. O estudo inclui entrevistas com 98 mulheres, parte grávida durante a epidemia de ZIKV no Brasil, Colômbia e Porto Rico e que tiveram filhos com SCZ ou sem comprometimento neurológico diagnosticado. Além disso, o estudo inclui um grupo de mulheres grávidas durante a pandemia de COVID-19 nos mesmos países. Em ambos os grupos, as entrevistadas tinham diferentes níveis de conhecimento sobre ZIKV. O estudo constatou que as mensagens veiculadas por meio da mídia eram alarmistas; em contraste com as informações fornecidas por profissionais de saúde, consideradas mais confiáveis. Mulheres gestantes durante a epidemia do ZIKV relataram ter recebido seu diagnóstico de infecção por ZIKV e SCZ tardiamente ou após o parto. O estudo destaca as necessidades das mulheres grávidas em cenários de alto risco, a importância de processos de educação em saúde e a necessidade de reforçar a comunicação e a educação continuada.
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OBJECTIVE: The objective of this study was to describe feeding practices and weight status in a cohort of children with congenital Zika syndrome (CZS) in northeastern Brazil. METHODS: This longitudinal study of children with CZS (N = 156) included data collection on child feeding practices and weight status at five timepoints between 2018 and 2022. The average age of the children was 32.1 months at enrollment and 76.6 months at the fifth assessment. Multilevel models, with repeated observations nested within children, were used to estimate time-related differences in each outcome. RESULTS: Use of enteral feeding, such as gastrostomy, increased from 19.2% to 33.3% over 4 years (p < .001). Among children who did not exclusively use an enteral feeding method, the percentage experiencing at least one dysphagia-associated behavior, such as coughing or gagging, increased from 73.9% to 85.3% (p = .030) while consuming liquids and from 36.2% to 73.5% (p = .001) while consuming solids. Based on weight-for-age z-scores, the percentage of children who were moderately or severely underweight increased from 42.5% to 46.1% over the 4 years but was not statistically significant. Children exclusively using an enteral feeding method had significantly decreased odds of being underweight at assessments 3, 4, and 5. CONCLUSIONS: These data highlight the ongoing and increasing challenges of feeding young children with CZS. Our findings elucidate the physiological reasons children with CZS may be underweight and point to intervention targets, such as enteral feeding, to improve their feeding practices.
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Peso Corporal , Nutrição Enteral , Infecção por Zika virus , Humanos , Estudos Longitudinais , Brasil/epidemiologia , Infecção por Zika virus/congênito , Infecção por Zika virus/complicações , Infecção por Zika virus/epidemiologia , Feminino , Masculino , Pré-Escolar , Nutrição Enteral/métodos , Lactente , Comportamento Alimentar , CriançaRESUMO
Introduction. Several studies have shown population differences in head circumference (HC) that question the universal validity of the World Health Organization (WHO) standard to assess head growth. Objectives. To compare the Argentine reference charts for HC from 0 to 5 years of age with the WHO standards. Population and methods. The 3rd and 97th percentiles for HC based on the Argentine reference charts were compared with the corresponding WHO standard and the percentage of children classified as having microcephaly (HC < 3rd percentile of the WHO) and macrocephaly (HC > 97th percentile of the WHO) at specific ages between 0 and 5 years were estimated. Results. The comparison of the Argentine reference charts with the WHO standards shows that, in both males and females, at the 3rd percentile, the Argentine reference charts are below the WHO standards from 1 to 6 months of age, similar from 9 to 18 months of age, and then above until 60 months old. In relation to the 97th percentile, the Argentine reference charts are above the WHO standards from birth to 60 months in both boys and girls. Conclusions. The head size of Argentine children is different from that established by the WHO standards. The adoption of the WHO standards for our population increases the percentage of macrocephaly diagnosis at all ages.
Introducción. Diversos estudios han evidenciado diferencias poblacionales en el tamaño cefálico que cuestionan la validez universal del estándar de la Organización Mundial de la Salud (OMS) para evaluar el crecimiento cefálico. Objetivos. Comparar las referencias argentinas de perímetro cefálico (PC) de 0 a 5 años con los estándares de la OMS. Población y métodos. Se compararon los percentiles 3 y 97 de PC de las referencias argentinas con los correspondientes del estándar de la OMS y se calcularon los porcentajes de niños clasificados como microcefálicos (PC < percentil 3 de la OMS) y macrocefálicos (PC > percentil 97 de la OMS) a edades específicas entre el nacimiento y los 5 años de edad. Resultados. La comparación de las referencias argentinas con los estándares de la OMS, muestra que en ambos sexos en el percentil 3, desde el primer mes y hasta los 6 meses, las referencias argentinas se encuentran por debajo de los estándares de la OMS, son similares entre los 9 y 18 meses, y luego se ubican por encima hasta los 60 meses. En relación con el percentil 97, las referencias argentinas se ubican por encima de los estándares de la OMS desde el nacimiento hasta los 60 meses en ambos sexos. Conclusiones. El tamaño cefálico de los niños y niñas argentinos difiere del de los estándares de la OMS. La adopción de los estándares de la OMS en nuestra población incrementa el porcentaje de diagnóstico de macrocefalia a todas las edades.
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Cefalometria , Cabeça , Organização Mundial da Saúde , Humanos , Argentina , Masculino , Feminino , Lactente , Pré-Escolar , Cefalometria/normas , Recém-Nascido , Cabeça/anatomia & histologia , Valores de Referência , Microcefalia/diagnóstico , Megalencefalia/diagnóstico , Gráficos de CrescimentoRESUMO
Viral infections in low-income countries such as Brazil pose a significant challenge for medical authorities, with epidemics such as Zika virus infection having lasting effects. The increase in microcephaly among newborns has prompted investigations into the association between Zika virus and this congenital syndrome. The severity and prevalence of microcephaly led to the declaration of national and international emergencies. Extensive research has been conducted to understand the teratogenic effects of Zika virus, particularly its impact on neural progenitor cells in the fetal brain. Various pre- and postnatal imaging techniques, such as ultrasound, magnetic resonance imaging (MRI), and postnatal computed tomography (CT), have played crucial roles in diagnosing and monitoring malformations linked to congenital Zika virus infection in the central nervous system (CNS). These modalities can detect brain parenchymal abnormalities, calcifications, cerebral atrophy, and callosal anomalies. Additionally, three-dimensional ultrasound and fetal MRI provide detailed anatomical images, while CT can identify calcifications that are not easily detected by other methods. Despite advancements in imaging, there are still unanswered questions and ongoing challenges in comprehending the long-term effects and developmental impairments in children affected by Zika virus. Radiologists continue to play a crucial role in diagnosing and assisting in the management of these cases.
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BACKGROUND: Prenatal exposure to the Zika virus can lead to microcephaly and adverse developmental outcomes, even in children without evident birth defects. The social environment plays a crucial role in infant health and developmental trajectories, especially during periods of heightened brain plasticity. The study aimed to assess socioenvironmental factors as predictors of developmental outcomes of 36-month-old children exposed to Zika virus prenatally. STUDY DESIGN: This cross-sectional study included 53 mothers and 55 children enrolled in the Pediatric Outcomes of Prenatal Zika Exposure cohort study in Puerto Rico. The study performs follow-up developmental assessments of children born to mothers with confirmed and probable Zika virus infection during pregnancy. Mothers completed socioenvironmental questionnaires (e.g., Perceived Neighborhood Scale and US Household Food Insecurity Survey). Children's developmental outcomes were assessed with the Bayley Scales of Infant and Toddler Development: Third Edition, the Ages and Stages Questionnaires: Third Edition, the Ages and Stages Questionnaire-Socioemotional: Second Edition, and the Child Adjustment and Parent Efficacy Scale. RESULTS: Linear regression models, adjusting for a child's sex and age and maternal education, revealed that early life exposure to food insecurity and maternal pregnancy stressors were significantly associated with poorer developmental outcomes in Zika virus-exposed children at 36 months of age. Maternal resilience representation of adaptive ability was associated with the preservation of adequate developmental outcomes in children. CONCLUSIONS: Pregnancy and early childhood are critical life periods for ensuring optimal brain development in children. While the mechanisms in the interaction of children with their environment are complex, the risk and protective factors identified in the study are modifiable through public policy and preventive initiatives. Implementation of comprehensive strategies that improve access to social support programs, educational and nutritional interventions, and mental health services during pregnancy and early childhood can enhance the developmental potential of vulnerable children.
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Desenvolvimento Infantil , Complicações Infecciosas na Gravidez , Efeitos Tardios da Exposição Pré-Natal , Meio Social , Infecção por Zika virus , Humanos , Feminino , Gravidez , Estudos Transversais , Porto Rico , Pré-Escolar , Masculino , Adulto , LactenteRESUMO
We present a case study of a patient exhibiting acquired microcephaly along with global developmental delay and drug-resistant epilepsy. Brain magnetic resonance imaging revealed distinctive features, including a Z-shaped morphology of the brainstem, volumetric reduction of white matter, diffuse thinning of the corpus callosum, and partial fusion of the cerebellar hemispheres at their most cranial portion. Whole-exome sequencing uncovered a pathogenic variant in the ARF3 gene c.200A>T, p.(Asp67Val). The neurodevelopmental disorder associated with the ARF3 gene is exceptionally rare, with only two previously documented cases in the literature. This disorder is characterized by global developmental delay and brain malformations, particularly affecting the white matter, cerebellum, and brainstem. It can also manifest as acquired microcephaly and epilepsy. These phenotypic characteristics align with Golgipathies, underscoring the significance of considering this group of conditions in relevant clinical contexts. In cases where a Z-shaped morphology of the brainstem is observed, ARF3-associated disorder should be included in the list of differential diagnoses.
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Fatores de Ribosilação do ADP , Transtornos do Neurodesenvolvimento , Feminino , Humanos , Fatores de Ribosilação do ADP/genética , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/patologia , Sequenciamento do Exoma , Predisposição Genética para Doença , Imageamento por Ressonância Magnética , Microcefalia/genética , Microcefalia/patologia , Microcefalia/diagnóstico , Mutação/genética , Transtornos do Neurodesenvolvimento/genética , Transtornos do Neurodesenvolvimento/patologia , Transtornos do Neurodesenvolvimento/diagnóstico por imagem , Fenótipo , Substância Branca/patologia , Substância Branca/diagnóstico por imagem , Pré-EscolarRESUMO
Resumen Introducción: El síndrome de Miller-Dieker cuenta con un patrón de herencia autosómico dominante y pertenece al grupo de trastornos de la migración neuronal. Se caracteriza por la presencia de lisencefalia de tipo 1, retraso global del desarrollo, microcefalia, epilepsia y dismorfismos faciales dados por mutaciones en el cromosoma 17p13. El síndrome de Miller-Dieker es una enfermedad extremadamente rara con prevalencia de 1 caso por cada 100,000 recién nacidos vivos. Presentación de casos: Nosotros presentamos dos casos de síndrome de Miller-Dieker en los que datos de la exploración física y del interrogatorio fueron pistas que permitieron una fuerte sospecha diagnóstica y que a su vez el diagnóstico definitivo mediante FISH permitió brindar un adecuado manejo con la finalidad de mejorar el pronóstico a largo plazo. Conclusión: Se debe tener una alta sospecha diagnóstica mediante la exploración física dirigida a identificar alteraciones en pacientes con epilepsia de difícil control, ya que permite guiar el diagnóstico etiológico y con ello brindar un adecuado tratamiento.
Abstract Introduction: Miller-Dieker syndrome has an autosomal dominant pattern of inheritance and belongs to the group of neuronal migration disorders. It is characterized by the presence of type 1 lissencephaly, global development delay, microcephaly, epilepsy and facial dysmorphisms caused by mutations in chromosome 17p13. Miller-Dieker syndrome is an extremely rare disease with a prevalence of 1 case per 100,000 live births. Case presentation: We present two cases of Miller-Dieker syndrome in which data from the physical examination and questioning were clues that allowed a strong diagnostic suspicion and that, in turn, the definitive diagnosis by means of FISH allowed us to provide adequate management in order to improve the long-term prognosis. Conclusion: A high diagnostic suspicion must be achieved through physical examination aimed at identifying alterations in patients with difficult-to-control epilepsy, since it allows guiding the etiological diagnosis and thereby providing adequate treatment.
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A microcefalia é uma condição sem tratamento causa alterações de cunho sensorial, cognitivo, motor, auditivo e visual, podendo ser adquirida por meio da infecção congênita pelo vírus Zika. O objetivo desta pesquisa foi avaliar o estado nutricional, o consumo alimentar e os fatores socioeconômicos que implicam na alimentação das crianças com microcefalia oriunda da infecção pelo Zika Vírus. Este estudo é uma pesquisa de campo descritiva, de delineamento transversal, que foi realizada com dez crianças na faixa etária de 2 a 3 anos. O estado nutricional foi avaliado utilizando balança digital e fita métrica, e os questionários sobre o consumo alimentar e condições socioeconômicas foram respondidos pelos cuidadores das crianças. Os resultados encontrados apresentaram inadequações das seguintes maneiras: 60% na estatura por idade, 50% no peso por idade e 40% no peso por estatura. Sobre a alimentação, 70% tinham uma alimentação inadequada e 60% apresentavam condições socioeconômicas de risco. Perante os achados, é possível interligar os fatores pesquisados com um retardo no desenvolvimento infantil. Portanto, ressalta-se que a microcefalia associada à alimentação inadequada e baixa condição social é capaz de agravar o estado nutricional.
Microcephaly is an untreated condition that leads to sensory, cognitive, motor, auditory and visual changes and can be acquired through congenital infection by the Zika Virus. Hence, this study evaluates the nutritional status, food consumption and socioeconomic factors that affect the nutrition of children with microcephaly transmitted by Zika Virus infection. A descriptive, cross-sectional field research was conducted with ten children aged 2 to 3 years. Nutritional status was assessed using a digital scale and measuring tape. Questionnaires on food consumption and socioeconomic conditions were answered by the children's caregivers. The results found presented the following inadequacies: 60% in height for age, 50% in weight for age, and 40% in weight for height. Regarding nutrition, 70% of the children had inadequate nutrition and 60% lived under risky socioeconomic conditions. Given these findings, the factors researched can be linked with a delay in child development. Therefore, microcephaly associated with inadequate nutrition and low social status can worsen nutritional status.
La microcefalia es una afección no tratada que conlleva cambios sensoriales, cognitivos, motores, auditivos y visuales, y puede adquirirse a través de una infección congénita por el virus Zika. El objetivo de este estudio fue evaluar el estado nutricional, el consumo de alimentos y los factores socioeconómicos que afectan la nutrición de niños con microcefalia provocada por la infección por el virus Zika. Se trata de un estudio descriptivo, de enfoque transversal, que se realizó con 10 niños de entre 2 y 3 años. El estado nutricional se evaluó mediante una balanza digital y una cinta métrica, y los cuidadores de los niños respondieron cuestionarios sobre consumo de alimentos y condiciones socioeconómicas. Los resultados encontrados presentaron insuficiencias en los siguientes aspectos: 60% en talla para la edad, 50% en peso para la edad y 40% en peso para la talla. En cuanto a la nutrición, el 70% tenía una nutrición inadecuada y el 60% tenía condiciones socioeconómicas de riesgo. Teniendo en cuenta los hallazgos, es posible relacionar los factores investigados con un retraso en el desarrollo infantil. Por tanto, cabe destacar que la microcefalia asociada a una nutrición inadecuada y un bajo estatus social es capaz de empeorar el estado nutricional.
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Humanos , Pré-EscolarRESUMO
OBJECTIVE: To describe the feeding characteristics and growth of children with prenatal exposure to Zika virus (ZIKV) from birth to 48 months. DESIGN: Using data from the prospective Microcephaly Epidemic Research Group Pediatric Cohort (MERG-PC), children without microcephaly born to mothers with evidence of ZIKV infection during pregnancy (ZIKV-exposed children without microcephaly) and children with Zika-related microcephaly were compared using repeated cross-sectional analyses within the following age strata: birth; 1 to 12; 13 to 24; 25 to 36; and 37 to 48 months. The groups were compared in relation to prematurity, birth weight, breastfeeding, alternative feeding routes, dysphagia and anthropometric profiles based on the World Health Organization Anthro z-scores (weight-length/height, weight-age, length/height-age and BMI-age). RESULTS: The first assessment included 248 children, 77 (31.05%) with microcephaly and 171 (68.95%) without microcephaly. The final assessment was performed on 86 children. Prematurity was 2.35 times higher and low birth weight was 3.49 times higher in children with microcephaly. The frequency of breastfeeding was high (> 80%) in both groups. On discharge from the maternity hospital, the frequency of children requiring alternative feeding route in both groups was less than 5%. After 12 months of age, children with microcephaly required alternative feeding route more often than children without microcephaly. In children with microcephaly, the z-score of all growth indicators was lower than in children without microcephaly. CONCLUSIONS: Children with Zika-related microcephaly were more frequently premature and low birth weight and remained with nutritional parameters, i.e., weight-for-age, weight-for-length/height and length/height-for-age below those of the children without microcephaly.
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Aleitamento Materno , Microcefalia , Complicações Infecciosas na Gravidez , Efeitos Tardios da Exposição Pré-Natal , Infecção por Zika virus , Humanos , Microcefalia/epidemiologia , Microcefalia/etiologia , Microcefalia/virologia , Infecção por Zika virus/complicações , Infecção por Zika virus/epidemiologia , Feminino , Gravidez , Recém-Nascido , Lactente , Masculino , Complicações Infecciosas na Gravidez/epidemiologia , Pré-Escolar , Estudos Transversais , Estudos Prospectivos , Desenvolvimento Infantil , Brasil/epidemiologiaRESUMO
Zika virus (ZIKV), the causative agent of Zika fever, is a flavivirus transmitted by mosquitoes of the Aedes genus. Zika virus infection has become an international concern due to its association with severe neurological complications such as fetal microcephaly. Viral infection can induce the release of ATP in the extracellular environment, activating receptors sensitized by extracellular nucleotides, such as the P2X7 receptor. This receptor is the primary purinergic receptor involved in neuroinflammation, neurodegeneration, and immunity. In this work, we investigated the role of ATP-P2X7 receptor signaling in Zika-related brain abnormalities. Wild-type mice (WT) and P2X7 receptor-deficient (P2X7-/-) C57BL/6 newborn mice were subcutaneously inoculated with 5 × 106plaque-forming units of ZIKV or mock solution. P2X7 receptor expression increased in the brain of Zika virus-infected mice compared to the mock group. Comparative analyses of the hippocampi from WT and P2X7-/-mice revealed that the P2X7 receptor increased hippocampal damage in CA1/CA2 and CA3 regions. Doublecortin expression decreased significantly in the brains of ZIKV-infected mice. WT ZIKV-infected mice showed impaired motor performance compared to P2X7-/- infected mice. WT ZIKV-infected animals showed increased expression of glial markers GFAP (astrocytes) and IBA-1 (microglia) compared to P2X7-/- infected mice. Although the P2X7 receptor contributes to neuronal loss and neuroinflammation, WT mice were more efficient in controlling the viral load in the brain than P2X7 receptor-deficient mice. This result was associated with higher induction of TNF-α, IFN-ß, and increased interferon-stimulated gene expression in WT mice than P2X7-/-ZIKV-infected. Finally, we found that the P2X7 receptor contributes to inhibiting the neuroprotective signaling pathway AKT/mTOR while stimulating the caspase-3 activation, possibly two distinct pathways contributing to neurodegeneration. These findings suggest that ATP-P2X7 receptor signaling contributes to the antiviral response in the brain of ZIKV-infected mice while increasing neuronal loss, neuroinflammation, and related brain abnormalities.
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Infecção por Zika virus , Zika virus , Gravidez , Feminino , Animais , Camundongos , Zika virus/genética , Doenças Neuroinflamatórias , Receptores Purinérgicos P2X7/genética , Receptores Purinérgicos P2X7/metabolismo , Camundongos Endogâmicos C57BL , Encéfalo/metabolismo , Transdução de Sinais , Trifosfato de AdenosinaRESUMO
The Zika virus received significant attention in 2016, following a declaration by the World Health Organization of an epidemic in the Americas, in which infections were associated with microcephaly. Indeed, prenatal Zika virus infection is detrimental to fetal neural stem cells and can cause premature cell loss and neurodevelopmental abnormalities in newborn infants, collectively described as congenital Zika syndrome. Contrastingly, much less is known about how neonatal infection affects the development of the newborn nervous system. Here, we investigated the development of the dentate gyrus of wild-type mice following intracranial injection of the virus at birth (postnatal day 0). Through this approach, we found that Zika virus infection affected the development of neurogenic regions within the dentate gyrus and caused reactive gliosis, cell death and a decrease in cell proliferation. Such infection also altered volumetric features of the postnatal dentate gyrus. Thus, we found that Zika virus exposure to newborn mice is detrimental to the subgranular zone of the dentate gyrus. These observations offer insight into the cellular mechanisms that underlie the neurological features of congenital Zika syndrome in children.
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Infecção por Zika virus , Zika virus , Humanos , Criança , Lactente , Feminino , Gravidez , Animais , Camundongos , Infecção por Zika virus/complicações , Neurogênese , Morte Celular , Proliferação de CélulasRESUMO
The Zika virus (ZIKV) can be vertically transmitted, causing congenital Zika syndrome (CZS) in fetuses. ZIKV infection in early gestational trimesters increases the chances of developing CZS. This syndrome involves several pathologies with a complex diagnosis. In this work, we aim to identify biological processes and molecular pathways related to CZS and propose a series of putative protein and metabolite biomarkers for CZS prognosis in early pregnancy trimesters. We analyzed serum samples of healthy pregnant women and ZIKV-infected pregnant women bearing nonmicrocephalic and microcephalic fetuses. A total of 1090 proteins and 512 metabolites were identified by bottom-up proteomics and untargeted metabolomics, respectively. Univariate and multivariate statistical approaches were applied to find CZS differentially abundant proteins (DAP) and metabolites (DAM). Enrichment analysis (i.e., biological processes and molecular pathways) of the DAP and the DAM allowed us to identify the ECM organization and proteoglycans, amino acid metabolism, and arachidonic acid metabolism as CZS signatures. Five proteins and four metabolites were selected as CZS biomarker candidates. Serum multiomics analysis led us to propose nine putative biomarkers for CZS prognosis with high sensitivity and specificity.
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Complicações Infecciosas na Gravidez , Infecção por Zika virus , Zika virus , Gravidez , Feminino , Humanos , Infecção por Zika virus/diagnóstico , Zika virus/genética , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/patologia , Multiômica , BiomarcadoresRESUMO
Microcephaly is characterized by an occipitofrontal circumference at least two standard deviations below the mean for age and sex. Neurodevelopmental disorders (NDD) are commonly associated with microcephaly, due to perturbations in brain development and functioning. Given the extensive genetic heterogeneity of microcephaly, managing patients is hindered by the broad spectrum of diagnostic possibilities that exist before conducting molecular testing. We investigated the genetic basis of syndromic microcephaly accompanied by NDD in a Brazilian cohort of 45 individuals and characterized associated clinical features, as well as evaluated the effectiveness of whole-exome sequencing (WES) as a diagnostic tool for this condition. Patients previously negative for pathogenic copy number variants underwent WES, which was performed using a trio approach for isolated index cases (n = 31), only the index in isolated cases with parental consanguinity (n = 8) or affected siblings in familial cases (n = 3). Pathogenic/likely pathogenic variants were identified in 19 families (18 genes) with a diagnostic yield of approximately 45%. Nearly 86% of the individuals had global developmental delay/intellectual disability and 51% presented with behavioral disturbances. Additional frequent clinical features included facial dysmorphisms (80%), brain malformations (67%), musculoskeletal (71%) or cardiovascular (47%) defects, and short stature (54%). Our findings unraveled the underlying genetic basis of microcephaly in half of the patients, demonstrating a high diagnostic yield of WES for microcephaly and reinforcing its genetic heterogeneity. We expanded the phenotypic spectrum associated with the condition and identified a potentially novel gene (CCDC17) for congenital microcephaly.
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Microcefalia , Transtornos do Neurodesenvolvimento , Humanos , Microcefalia/genética , Brasil , Masculino , Feminino , Transtornos do Neurodesenvolvimento/genética , Transtornos do Neurodesenvolvimento/diagnóstico , Criança , Pré-Escolar , Adolescente , Sequenciamento do Exoma , Síndrome , Adulto Jovem , Estudos de Coortes , Adulto , LactenteRESUMO
Resumo Distantes temporalmente da declaração da emergência em saúde pública de importância internacional (ESPII) e emergência em saúde pública de importância nacional (ESPIN) provocada pela epidemia de zika, no ano de 2015, enunciamos a herança da emergência humanitária. Com base em uma pesquisa qualitativa, por meio de grupos focais realizados com profissionais de saúde e familiares das crianças afetadas epidemia de zika em Natal e Feira de Santana, buscamos discutir esse fenômeno de saúde pública pelas lentes da Antropologia do Estado. Concluímos que o não reconhecimento do Estado como uma instância encarnada no cotidiano das práticas por parte dos seus agentes locais leva à reprodução de práticas discriminatórias esvaziadas de sentido político e do reconhecimento de moralidades que permeiam as ausências nas ações de promoção de saúde e estratégias de reconhecimento e busca por estratégias para a garantia do direito à saúde.
Abstract Temporarily distant from the declaration of the Public Health Emergency of International Importance (ESPII) and Public Health Emergency of National Importance (ESPIN) caused by the Zika epidemic, in 2015, we enunciate the legacy of the humanitarian emergency. Based on qualitative research, through focus groups with health professionals and families of children affected by the Zika epidemic in Natal and Feira de Santana, we seek to discuss this public health phenomenon through the lens of State Anthropology. We conclude that the non-recognition of the State as an instance embodied in the daily practices of its local agents leads to the reproduction of discriminatory practices emptied of political sense and the recognition of moralities that permeate the absences in health promotion actions and recognition strategies, and search for methods to guarantee the right to health.
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Resumo Objetivo: Realizar uma análise descritiva dos gastos privados diretos domiciliares em saúde e da vulnerabilidade socioeconômica associados à condição de microcefalia, uma das manifestações mais evidentes da síndrome congênita do Zika vírus (SCZ). O surto de microcefalia e outros distúrbios neurológicos em crianças menores de um ano de idade foi associado à infecção pelo vírus Zika, durante a epidemia ocorrida no período de 2015-2016 no Brasil. Método: Noventa e seis entrevistas foram realizadas em dois centros especializados de atendimento às crianças acometidas por microcefalia nas cidades do Rio de Janeiro e Fortaleza. O questionário estruturado abrangeu características sociodemográficas, gastos com desembolso direto associados com a doença e estratégias adotadas pelas famílias para lidarem com os desafios financeiros impostos pela anomalia congênita. Resultados: Os domicílios eram majoritariamente chefiados por não-brancos e pertenciam às classes C e D-E. Os gastos com medicamentos contabilizaram 78% dos gastos médicos, enquanto as despesas com transporte representaram 46% do gasto privado não-médico. A maioria dos domicílios enfrentaram endividamento e redução do consumo doméstico, inclusive de alimentos, a fim de fazer face às despesas incorridas pela doença. Conclusão: A microcefalia parece reforçar a vulnerabilidade socioeconômica das famílias, reforçando o círculo vicioso característico da abordagem conceitual da armadilha saúde-pobreza.
Abstract Objective: To carry out a descriptive analysis of direct private household health expenditures and socioeconomic vulnerability associated with the condition of Microcephaly, one of the most evidence manifestations of Congenital Zika Syndrome (CZS). The outbreak of microcephaly and other neurological disorders in children under one year of age was linked to Zika virus infection during the 2015-2016 epidemic in Brazil. Method: Ninety-six interviews were carried out in two specialized care centers for children with microcephaly in the cities of Rio de Janeiro and Fortaleza, Brazil. The structured questionnaire covered sociodemographic characteristics, out-of-pocket expenditures associated with the disease, and strategies adopted by families to deal with the financial challenges imposed by the congenital anomaly. Results: The households were mostly headed by non-whites and belonged to classes C and D-E. Expenditures on medicines accounted for 78% of medical expenses, while transportation represented 46% of private non-medical expenses. Most households faced debt and reduced domestic consumption, including food, to meet the expenses incurred by the disease. Conclusion: Microcephaly appears to reinforce the socioeconomic vulnerability of families, reinforcing the vicious circle characteristic of the health-poverty trap conceptual approach.
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Resumo A epidemia do vírus Zika (ZIKV) teve impacto sanitário, psicossocial e econômico sobre pessoas em idade reprodutiva. A principal preocupação foi a infecção durante a gravidez devido a possível transmissão vertical e sua associação com resultados fetais e infantis adversos, conhecida como síndrome congênita associada à infecção pelo Vírus Zika (SCZ). Este estudo qualitativo utiliza a fenomenologia e a teoria fundamentada. O estudo inclui entrevistas com 98 mulheres, parte grávida durante a epidemia de ZIKV no Brasil, Colômbia e Porto Rico e que tiveram filhos com SCZ ou sem comprometimento neurológico diagnosticado. Além disso, o estudo inclui um grupo de mulheres grávidas durante a pandemia de COVID-19 nos mesmos países. Em ambos os grupos, as entrevistadas tinham diferentes níveis de conhecimento sobre ZIKV. O estudo constatou que as mensagens veiculadas por meio da mídia eram alarmistas; em contraste com as informações fornecidas por profissionais de saúde, consideradas mais confiáveis. Mulheres gestantes durante a epidemia do ZIKV relataram ter recebido seu diagnóstico de infecção por ZIKV e SCZ tardiamente ou após o parto. O estudo destaca as necessidades das mulheres grávidas em cenários de alto risco, a importância de processos de educação em saúde e a necessidade de reforçar a comunicação e a educação continuada.
Abstract The Zika virus (ZIKV) epidemic had a sanitary, psychosocial, and economic impact on individuals of reproductive age. The primary concern revolved around infection during pregnancy due to possible vertical transmission and its association with adverse fetal and infant outcomes, known as Congenital Zika Syndrome (CZS). This qualitative study employs phenomenology and grounded theory. This study includes interviews with 98 women, some pregnant during the ZIKV epidemic in Brazil, Colombia, and Puerto Rico, who had children with CZS or without diagnosed neurological impairment. Additionally, the study included a group of women who were pregnant during the Covid-19 pandemic in these same countries. In both groups, interviewees had varying levels of knowledge about ZIKV. The study found that messages conveyed through the media tended to be alarmist, in contrast to the information provided by healthcare professionals, which was considered more trustworthy. Pregnant women during the ZIKV epidemic reported receiving their ZIKV and CSZ infection diagnoses late, either during or after childbirth. The study underscores the needs of pregnant women in high-risk scenarios, the importance of health education processes, and the necessity to reinforce communication and continuing education.
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ABSTRACT Purpose: to describe the development, focusing on language, of children affected by congenital Zika syndrome and compare it with that of typically developing children. Methods: a quantitative, observational, cross-sectional, case-control study. Data from the group of children with congenital Zika virus syndrome (case) were matched for sex and age with data from the group of typically developing children without comorbidities (control). The research included 20 parents/guardians of the children in the case group and 20 parents/guardians of the children in the control group, using interview as an adapted instrument. The data underwent descriptive and inferential statistical analysis, through association tests and comparison of means, with the significance level set at 5%. Results: there was a statistical difference in motor, auditory, and language development between the groups, according to the parents' perception. Conclusion: Based on the caregivers' reports, most of the case group communicated non-verbally through babbling, shouting, and eye contact, whereas the minority communicated through dialogue, understood simple orders, and performed imitative behaviors, symbolic play, and shared attention. On the other hand, the control group communicated through complex sentences constructed into narratives.
RESUMO Objetivo: descrever o desenvolvimento infantil, com enfoque na linguagem, de crianças acometidas da síndrome congênita do Zika e compará-lo com o de crianças com desenvolvimento típico. Métodos: trata-se de um estudo observacional, transversal, do tipo caso-controle, e de natureza quantitativa. Os dados do grupo de crianças com Síndrome Congênita do Zika vírus (caso) foram pareados por sexo e idade com os dados do grupo de crianças sem comorbidades e desenvolvimento típico (controle). Participaram da pesquisa, 20 responsáveis pelas crianças do grupo caso e 20 pelas crianças do grupo controle e o instrumento utilizado foi uma entrevista adaptada. Os dados foram examinados por meio de uma análise estatística descritiva e inferencial por meio de testes de associação e de comparação de médias, com nível de significância de 5%. Resultados: foi observada diferença estatística entre os grupos estudados, referente ao desenvolvimento infantil, no âmbito motor, auditivo e de linguagem, com base na percepção dos pais. Conclusão: diante das informações dos cuidadores, a comunicação da maioria do grupo caso ocorre de forma não verbal por meio de gorjeios, gritos e contato visual; e a minoria comunica-se por diálogo, compreende ordens simples, realiza condutas imitativas, brincar simbólico e tem atenção compartilhada. Diferentemente, o grupo controle comunica-se por meio de frases complexas presentes em narrativas.
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Abstract The aim of the present study was to compare the oral conditions of children with congenital Zika syndrome (CZS)-associated microcephaly, non-CZS-associated microcephaly, and normotypical children, as well as to characterize their sociodemographic aspects and medical history. A paired cross-sectional study was carried out on 14 children with CZS-associated microcephaly and 24 age-matched controls, in Belo Horizonte, in southeastern Brazil. Children's oral conditions were assessed: dental caries experience (dmft/DMFT indices); developmental defects of enamel (DDE) index; dental anomalies; mucosal changes; lip sealing, and malocclusion (overjet, overbite, and/or posterior crossbite alterations). The quality of oral hygiene was analyzed by the simplified oral hygiene index. The children's mothers also answered a questionnaire about sociodemographic and medical history data. The variables were analyzed descriptively. Female participants were more prevalent (60.5%), and the mean age of the participants was 4.9 years (±1.4) (range: 2-8 years) and 92.1% of their exhibited some oral condition. All participants with CZS-associated microcephaly showed absence of lip sealing and had malocclusion (100.0%). When compared to the other groups, children with CZS had a higher percentage of dental anomalies (35.7%), mucosal changes (71.4%), and unsatisfactory oral hygiene (64.3%). In a sample composed mainly of female participants aged less than 5 years, the prevalence of oral conditions and unsatisfactory oral hygiene was higher in the group with CZS-associated microcephaly, followed by the group with non-CZS-associated microcephaly. Normotypical children had the highest percentage of dental caries experience.
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ABSTRACT Purpose: to investigate the frequency-following response (FFR) for sustained neural activity. Methods: 39 individuals, aged between 20 to 47 months old were divided into 2 groups: (i) 20 individuals without prenatal exposure to the congenital Zika syndrome (CZS) or hydrocephaly, normal development, no risk factors for hearing loss or syndromic hearing impairment and (ii) 19 individuals diagnosed with CZS and microcephaly - based on imaging studies linked to the clinical presentation of the condition. All participants exhibited normal click-ABR tests. FFR waveforms were documented using the /da/ syllable employing the Navigator Pro. The statistical analysis used was ANOVA (p-value <0.05). Results: no distinctions were observed concerning the variables of group, age, or gender with respect to FFR latency values, except for an interaction between gender and group for latency values associated with waves V and F. Children with CZS and microcephaly showed a difference for latency values in wave V for both males and females, when compared to the control group. Conclusion: children presented with CZS and microcephaly showed higher average latencies for waves V, A, C, D and F (male) compared to the control group, whereas, in waves E, F (female) and O they showed higher values in the control group.