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1.
J Trop Pediatr ; 69(5)2023 09 07.
Artigo em Inglês | MEDLINE | ID: mdl-37705261

RESUMO

INTRODUCTION: Congenital Zika syndrome (CZS) is a recently described disease. Our main objective was to evaluate and monitor, over 3 years, the ophthalmoscopic findings in children exposed to zika virus (ZIKV) during gestation. METHODS: This prospective observational study was conducted in Rio de Janeiro, Brazil, between April 2016 and May 2019. We evaluated two groups with exanthema serving as a proxy for viremia: (i) children whose mothers had exanthema during pregnancy and (ii) children who had microcephaly without maternal exanthema during pregnancy. We performed indirect ophthalmoscopy at recruitment and every 6 months thereafter. We also tested the association between ocular findings with maternal exanthema, microcephaly, CZS and maternal infection confirmed by reverse transcriptase quantitative polymerase chain reaction and gender. RESULTS: Of the 72 children included, 16 (22.2%) had optic nerve and/or retinal lesions. All 16 had CZS and 15 (93.7%) had microcephaly (14 at birth and 1 postnatally). The child with postnatally acquired microcephaly was born to a mother without exanthema during pregnancy. Fifty-six (77.8%) of the 72 children were followed for a median time of 24 months and none exhibited differences between admission and follow-up examinations. After logistic regression, only microcephaly at birth was associated with eye abnormalities (odds ratio, 77.015; 95% confidence interval, 8.85-670.38; p < 0.001). CONCLUSION: We observed that there was no progression of the lesions over the follow-up period. We also showed that the eye findings were associated only with microcephaly at birth. Attention should be paid to all children born during a ZIKV epidemic, regardless of maternal exanthema and/or microcephaly at birth.


Assuntos
Exantema , Microcefalia , Infecção por Zika virus , Zika virus , Recém-Nascido , Feminino , Gravidez , Criança , Humanos , Zika virus/genética , Infecção por Zika virus/diagnóstico , Infecção por Zika virus/epidemiologia , Microcefalia/epidemiologia , Seguimentos , Brasil/epidemiologia , Exantema/etiologia , Mães
2.
Int J Mol Sci ; 24(15)2023 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-37569253

RESUMO

Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare, frequently misdiagnosed, autosomal dominant disease caused by mutations in the FTL gene. It causes bilateral pediatric cataract and hyperferritinemia without iron overload. The objective of this case series, describing three Brazilian families, is to increase awareness of HHCS, as well as to discuss possible phenotypic interactions with concurrent mutations in HFE, the gene associated with autosomal recessive inheritance hereditary hemochromatosis. Whole-exome sequencing was performed in eight individuals with HHCS from three different families, as well as one unaffected member from each family for trio analysis-a total of eleven individuals. Ophthalmological and clinical genetic evaluations were conducted. The likely pathogenic variant c.-157G>A in FTL was found in all affected individuals. They presented slowly progressing bilateral cataract symptoms before the age of 14, with a phenotype of varied bilateral diffuse opacities. Hyperferritinemia was present in all affected members, varying from 971 ng/mL to 4899 ng/mL. There were two affected individuals with one concurrent pathogenic variant in HFE (c.187C>G, p.H63D), who were also the ones with the highest values of serum ferritin in our cohort. Few publications describe individuals with pathogenic mutations in both FTL and HFE genes, and further studies are needed to assess possible phenotypic interactions causing higher values of hyperferritinemia.


Assuntos
Catarata , Hiperferritinemia , Distúrbios do Metabolismo do Ferro , Humanos , Brasil , Linhagem , Distúrbios do Metabolismo do Ferro/patologia , Catarata/patologia , Mutação
3.
Int J Mol Sci ; 23(15)2022 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-35897758

RESUMO

Vision is an important sense for humans, and visual impairment/blindness has a huge impact in daily life. The retina is a nervous tissue that is essential for visual processing since it possesses light sensors (photoreceptors) and performs a pre-processing of visual information. Thus, retinal cell dysfunction or degeneration affects visual ability and several general aspects of the day-to-day of a person's lives. The retina has a blood-retinal barrier, which protects the tissue from a wide range of molecules or microorganisms. However, several agents, coming from systemic pathways, reach the retina and influence its function and survival. Pesticides are still used worldwide for agriculture, contaminating food with substances that could reach the retina. Natural products have also been used for therapeutic purposes and are another group of substances that can get to the retina. Finally, a wide number of medicines administered for different diseases can also affect the retina. The present review aimed to gather recent information about the hazard of these products to the retina, which could be used to encourage the search for more healthy, suitable, or less risky agents.


Assuntos
Retina , Degeneração Retiniana , Barreira Hematorretiniana , Humanos , Células Fotorreceptoras , Retina/metabolismo , Degeneração Retiniana/metabolismo , Visão Ocular , Percepção Visual
4.
J Infect Dis ; 224(6): 1060-1068, 2021 09 17.
Artigo em Inglês | MEDLINE | ID: mdl-33528564

RESUMO

BACKGROUND: Zika virus (ZIKV) is associated with severe congenital abnormalities and laboratory diagnosis of antenatal infection is difficult. Here we evaluated ZIKV neutralizing antibody (nAb) kinetics in infants born to mothers with PCR-confirmed ZIKV infection during pregnancy. METHODS: Neonates (n = 98) had serum specimens tested repeatedly for ZIKV nAb over the first 2 years of life using virus neutralization test (VNT). ZIKV neonatal infection was confirmed by RT-PCR in blood or urine and/or presence of ZIKV IgM antibodies, and results were correlated with infant clinical features. RESULTS: Postnatal laboratory evidence of ZIKV vertical transmission was obtained for 60.2% of children, while 32.7% exhibited clinical abnormalities. Congenital abnormalities were found in 37.3% of children with confirmed ZIKV infection and 31.0% of children without confirmed infection (P = .734). All but 1 child displayed a physiologic decline in ZIKV nAb, reflecting maternal antibody decay, despite an early ZIKV-IgM response in one-third of infants. CONCLUSIONS: Infants with antenatal ZIKV exposure do not develop ZIKV nAb despite an early IgM response. Therefore, ZIKV VNT in children is not useful for diagnosis of congenital infection. In light of these findings, it remains to be determined if children infected in utero are potentially susceptible to reinfection.


Assuntos
Anticorpos Neutralizantes/sangue , Anticorpos Antivirais/sangue , Transmissão Vertical de Doenças Infecciosas , Complicações Infecciosas na Gravidez , Infecção por Zika virus/diagnóstico , Zika virus/imunologia , Biomarcadores , Feminino , Humanos , Imunoglobulina M , Lactente , Recém-Nascido , Cinética , Masculino , Reação em Cadeia da Polimerase , Gravidez , Zika virus/genética , Zika virus/isolamento & purificação , Infecção por Zika virus/congênito
5.
Ophthalmology ; 128(10): e51-e68, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34247850

RESUMO

PURPOSE: The International Classification of Retinopathy of Prematurity is a consensus statement that creates a standard nomenclature for classification of retinopathy of prematurity (ROP). It was initially published in 1984, expanded in 1987, and revisited in 2005. This article presents a third revision, the International Classification of Retinopathy of Prematurity, Third Edition (ICROP3), which is now required because of challenges such as: (1) concerns about subjectivity in critical elements of disease classification; (2) innovations in ophthalmic imaging; (3) novel pharmacologic therapies (e.g., anti-vascular endothelial growth factor agents) with unique regression and reactivation features after treatment compared with ablative therapies; and (4) recognition that patterns of ROP in some regions of the world do not fit neatly into the current classification system. DESIGN: Review of evidence-based literature, along with expert consensus opinion. PARTICIPANTS: International ROP expert committee assembled in March 2019 representing 17 countries and comprising 14 pediatric ophthalmologists and 20 retinal specialists, as well as 12 women and 22 men. METHODS: The committee was initially divided into 3 subcommittees-acute phase, regression or reactivation, and imaging-each of which used iterative videoconferences and an online message board to identify key challenges and approaches. Subsequently, the entire committee used iterative videoconferences, 2 in-person multiday meetings, and an online message board to develop consensus on classification. MAIN OUTCOME MEASURES: Consensus statement. RESULTS: The ICROP3 retains current definitions such as zone (location of disease), stage (appearance of disease at the avascular-vascular junction), and circumferential extent of disease. Major updates in the ICROP3 include refined classification metrics (e.g., posterior zone II, notch, subcategorization of stage 5, and recognition that a continuous spectrum of vascular abnormality exists from normal to plus disease). Updates also include the definition of aggressive ROP to replace aggressive-posterior ROP because of increasing recognition that aggressive disease may occur in larger preterm infants and beyond the posterior retina, particularly in regions of the world with limited resources. ROP regression and reactivation are described in detail, with additional description of long-term sequelae. CONCLUSIONS: These principles may improve the quality and standardization of ROP care worldwide and may provide a foundation to improve research and clinical care.


Assuntos
Retina/diagnóstico por imagem , Retinopatia da Prematuridade/classificação , Diagnóstico por Imagem , Progressão da Doença , Idade Gestacional , Humanos , Recém-Nascido , Retinopatia da Prematuridade/diagnóstico
6.
J Infect Dis ; 221(11): 1838-1845, 2020 05 11.
Artigo em Inglês | MEDLINE | ID: mdl-31773163

RESUMO

BACKGROUND: There are limited data on the natural history of antenatal Zika virus (ZIKV) exposure in twin pregnancies, especially regarding intertwin concordance of prenatal, placental, and infant outcomes. METHODS: This prospective cohort study included twin pregnancies referred to a single institution from September 2015 to June 2016 with maternal ZIKV. Polymerase chain reaction (PCR) testing of maternal, placental, and neonatal samples was performed. Prenatal ultrasounds were completed for each twin, and histomorphologic analysis was performed for each placenta. Abnormal neonatal outcome was defined as abnormal exam and/or abnormal imaging. Two- to three-year follow-up of infants included physical exams, neuroimaging, and Bayley-III developmental assessment. RESULTS: Among 244 pregnancies, 4 twin gestations without coinfection were identified. Zika virus infection occurred at 16-33 weeks gestation. Zika virus PCR testing revealed discordance between dichorionic twins, between placentas in a dichorionic pair, between portions of a monochorionic placenta, and between a neonate and its associated placenta. Of the 8 infants, 3 (38%) had an abnormal neonatal outcome. Of 6 infants with long-term follow-up, 3 (50%) have demonstrated ZIKV-related abnormalities. CONCLUSIONS: Neonatal PCR testing, placental findings, and infant outcomes can be discordant between co-twins with antenatal ZIKV exposure. These findings demonstrate that each twin should be evaluated independently for vertical transmission.


Assuntos
Complicações Infecciosas na Gravidez/diagnóstico , Gravidez de Gêmeos , Infecção por Zika virus/diagnóstico , Adulto , Feminino , Humanos , Lactente , Recém-Nascido , Transmissão Vertical de Doenças Infecciosas , Placenta/virologia , Reação em Cadeia da Polimerase , Gravidez , Complicações Infecciosas na Gravidez/virologia , Estudos Prospectivos , Ultrassonografia Pré-Natal , Adulto Jovem , Zika virus/patogenicidade , Infecção por Zika virus/transmissão , Infecção por Zika virus/virologia
7.
Clin Infect Dis ; 70(12): 2663-2672, 2020 06 10.
Artigo em Inglês | MEDLINE | ID: mdl-31346616

RESUMO

BACKGROUND: Zika-exposed infants with microcephaly (proportional or disproportional) and those who are small for gestational age without microcephaly should be closely followed, particularly their growth trajectories. They are at high risk of adverse outcomes in the first year of life.Antenatal Zika virus (ZIKV) exposure may lead to adverse infant outcomes including microcephaly and being small for gestational age (SGA). ZIKV-exposed infants with a diagnosis of microcephaly (proportional [PM] or disproportional [DM]) or SGA at birth were evaluated with anthropometric measurements and health outcomes. METHODS: Infants had laboratory-confirmed ZIKV exposure in Brazil. PM, DM, or SGA classification was based on head circumference and weight. First-year growth parameters and clinical outcomes were recorded with analyses performed. RESULTS: Among the 156 ZIKV-exposed infants, 14 (9.0%) were SGA, 13 (8.3%) PM, 13 (8.3%) DM, and 116 (74.4%) were neither SGA nor had microcephaly (NSNM). High rates of any neurologic, ophthalmologic, and hearing abnormalities were observed for PM (100%), DM (100%), and SGA (42.9%) vs NSNM infants (18.3%; P <.001); odds ratio [OR], 3.4 (95% confidence interval [CI], 1.1-10.7) for SGA vs NSNM. Neuroimaging abnormalities were seen in 100% of PM and DM and in 42.9% of SGA vs NSNM infants 16%; (P <.001); OR 3.9 (95% CI, 1.2-12.8) for SGA vs NSNM. Growth rates by z score, particularly for microcephaly infants, were poor after birth but showed improvement beyond 4 months of life. CONCLUSIONS: ZIKV-exposed infants with microcephaly (PM and DM) had similarly high rates of adverse outcomes but showed improvement in growth measurements beyond 4 months of life. While SGA infants had fewer adverse outcomes compared with microcephaly infants, notable adverse outcomes were observed in some; their odds of having adverse outcomes were 3 to 4 times greater compared to NSNM infants.Zika-exposed infants with microcephaly, irrespective of being proportional or disproportional, and those who are small for gestational age without microcephaly should be closely followed, particularly their growth trajectories. They are at high risk of adverse outcomes in the first year of life.


Assuntos
Microcefalia , Complicações Infecciosas na Gravidez , Infecção por Zika virus , Zika virus , Brasil/epidemiologia , Feminino , Idade Gestacional , Humanos , Lactente , Microcefalia/epidemiologia , Gravidez , Complicações Infecciosas na Gravidez/epidemiologia , Infecção por Zika virus/complicações , Infecção por Zika virus/epidemiologia
8.
Clin Infect Dis ; 69(4): 713-716, 2019 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-30624579

RESUMO

There are limited data on amniocentesis as a diagnostic tool for congenital Zika syndrome. Here we report on a prospective cohort of 16 women with suspected Zika virus infection in a highly endemic area, and discuss the role of amniocentesis in the prenatal diagnosis of fetal Zika infection.


Assuntos
Amniocentese , Doenças Fetais/diagnóstico , Complicações Infecciosas na Gravidez/diagnóstico , Infecção por Zika virus/congênito , Infecção por Zika virus/diagnóstico , Feminino , Humanos , Transmissão Vertical de Doenças Infecciosas , Gravidez , Estudos Prospectivos
9.
N Engl J Med ; 375(24): 2321-2334, 2016 12 15.
Artigo em Inglês | MEDLINE | ID: mdl-26943629

RESUMO

BACKGROUND: Zika virus (ZIKV) has been linked to central nervous system malformations in fetuses. To characterize the spectrum of ZIKV disease in pregnant women and infants, we followed patients in Rio de Janeiro to describe clinical manifestations in mothers and repercussions of acute ZIKV infection in infants. METHODS: We enrolled pregnant women in whom a rash had developed within the previous 5 days and tested blood and urine specimens for ZIKV by reverse-transcriptase-polymerase-chain-reaction assays. We followed women prospectively to obtain data on pregnancy and infant outcomes. RESULTS: A total of 345 women were enrolled from September 2015 through May 2016; of these, 182 women (53%) tested positive for ZIKV in blood, urine, or both. The timing of acute ZIKV infection ranged from 6 to 39 weeks of gestation. Predominant maternal clinical features included a pruritic descending macular or maculopapular rash, arthralgias, conjunctival injection, and headache; 27% had fever (short-term and low-grade). By July 2016, a total of 134 ZIKV-affected pregnancies and 73 ZIKV-unaffected pregnancies had reached completion, with outcomes known for 125 ZIKV-affected and 61 ZIKV-unaffected pregnancies. Infection with chikungunya virus was identified in 42% of women without ZIKV infection versus 3% of women with ZIKV infection (P<0.001). Rates of fetal death were 7% in both groups; overall adverse outcomes were 46% among offspring of ZIKV-positive women versus 11.5% among offspring of ZIKV-negative women (P<0.001). Among 117 live infants born to 116 ZIKV-positive women, 42% were found to have grossly abnormal clinical or brain imaging findings or both, including 4 infants with microcephaly. Adverse outcomes were noted regardless of the trimester during which the women were infected with ZIKV (55% of pregnancies had adverse outcomes after maternal infection in the first trimester, 52% after infection in the second trimester, and 29% after infection in the third trimester). CONCLUSIONS: Despite mild clinical symptoms in the mother, ZIKV infection during pregnancy is deleterious to the fetus and is associated with fetal death, fetal growth restriction, and a spectrum of central nervous system abnormalities. (Funded by Ministério da Saúde do Brasil and others.).


Assuntos
Sistema Nervoso Central/anormalidades , Morte Fetal , Retardo do Crescimento Fetal/virologia , Microcefalia/virologia , Complicações Infecciosas na Gravidez , Infecção por Zika virus/complicações , Zika virus/isolamento & purificação , Adolescente , Adulto , Encéfalo/anormalidades , Brasil/epidemiologia , Sistema Nervoso Central/embriologia , Feminino , Morte Fetal/etiologia , Retardo do Crescimento Fetal/epidemiologia , Feto/anormalidades , Idade Gestacional , Humanos , Pessoa de Meia-Idade , Gravidez , Nascimento Prematuro/epidemiologia , Ultrassonografia Pré-Natal , Adulto Jovem
10.
Childs Nerv Syst ; 34(1): 63-71, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29110197

RESUMO

PURPOSE: The purpose of this review is to comprehensively review Congenital Zika Syndrome in regard to their epidemiology and clinical manifestations. METHODS: This subject review of congenital Zika syndrome was composed after conducting a thorough review of the available literature on this topic using PubMed and other primary sources. RESULTS: The first epidemic of Zika virus infection in Brazil was followed by an unexpected sharp increase in the incidence of infants born with microcephaly and the description of a new disease, the congenital Zika syndrome. This review focuses on the epidemiological and clinical aspects of Zika infection in children. We conducted a brief historical account of the virus description in 1947, the rare cases of Zika infection occurring up to 2007, and the first epidemics in the Pacific between 2007 and 2014. We also discussed the isolation of the virus in Brazil in 2015 and its spread in the Americas, the microcephaly outbreak in Brazil and its association with Zika virus, and the current epidemiological panorama. We address the known clinical spectrum of Zika virus infection in the pediatric population, including manifestations of acute infection and congenital Zika syndrome, with emphasis on cranial, ophthalmic, and orthopedic abnormalities. CONCLUSION: While much has been learned about congenital Zika syndrome, the full spectrum of this infection is not yet known. This review is based on current, limited data about Zika vírus infection. As more information becomes available, we will have a more accurate picture of this new disease.


Assuntos
Infecção por Zika virus/epidemiologia , Infecção por Zika virus/terapia , Adulto , Brasil/epidemiologia , Surtos de Doenças , Anormalidades do Olho/etiologia , Feminino , Humanos , Incidência , Recém-Nascido , Microcefalia/etiologia , Gravidez , Complicações Infecciosas na Gravidez , Infecção por Zika virus/diagnóstico
11.
Clin Infect Dis ; 65(6): 877-883, 2017 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-28535184

RESUMO

BACKGROUND: Congenital Zika virus (ZIKV) syndrome is a newly identified condition resulting from infection during pregnancy. We analyzed outcome data from a mother-infant cohort in Rio de Janeiro in order to assess whether clinical severity of maternal ZIKV infection was associated with maternal virus load, prior dengue antibodies, or abnormal pregnancy/infant outcomes. METHODS: A clinical severity assessment tool was developed based on duration of fever, severity of rash, multisystem involvement, and duration of symptoms during ZIKV infection. ZIKV-RNA load was quantified by polymerase chain reaction (PCR) cycles in blood/ urine. Dengue immunoglobulin G (IgG) antibodies were measured at baseline. Adverse outcomes were defined as fetal loss or a live infant with grossly abnormal clinical or brain imaging findings. Regression models were used to study potential associations. RESULTS: 131 ZIKV-PCR positive pregnant women were scored for clinical disease severity, 6 (4.6%) had mild disease, 98 (74.8%) had moderate disease, and 27 (20.6%) severe manifestations of ZIKV infection. There were 58 (46.4%) abnormal outcomes with 9 fetal losses (7.2%) in 125 pregnancies. No associations were found between: disease severity and abnormal outcomes (P = .961; odds ratio [OR]: 1.00; 95% confidence interval [CI]: 0.796-1.270); disease severity and viral load (P = .994); viral load and adverse outcomes (P = .667; OR: 1.02; 95% CI: 0.922-1.135); or existence of prior dengue antibodies (88% subjects) with severity score, ZIKV-RNA load or adverse outcomes (P = .667; OR: 0.78; 95% CI: 0.255-2.397). CONCLUSIONS: Congenital ZIKV syndrome does not appear to be associated with maternal disease severity, ZIKV-RNA load at time of infection or existence of prior dengue antibodies.


Assuntos
Morte Fetal , Doenças do Sistema Nervoso/epidemiologia , Malformações do Sistema Nervoso/epidemiologia , Complicações Infecciosas na Gravidez/sangue , Infecção por Zika virus/sangue , Infecção por Zika virus/complicações , Adolescente , Adulto , Anticorpos Antivirais/sangue , Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Brasil/epidemiologia , Vírus da Dengue/imunologia , Feminino , Humanos , Nascido Vivo/epidemiologia , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/congênito , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/fisiopatologia , Malformações do Sistema Nervoso/diagnóstico , Neuroimagem , Exame Neurológico , Gravidez , Complicações Infecciosas na Gravidez/virologia , Estudos Prospectivos , RNA Viral/sangue , Índice de Gravidade de Doença , Carga Viral , Adulto Jovem , Zika virus/genética
13.
Community Eye Health ; 33(108): 83-84, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32395034
14.
Rev Panam Salud Publica ; 36(1): 37-43, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25211676

RESUMO

OBJECTIVE: To assess the additional cost of incorporating the detection and treatment of retinopathy of prematurity (ROP) into neonatal care services of Brazil's Unified Health System (SUS). METHODS: A deterministic decision-tree simulation model was built to estimate the direct costs of screening for and treating ROP in neonatal intensive-care units (NICUs), based on data for 869 preterm infants with birth weight less than 1 500 g examined in six governmental NICUs in the capital city of Rio de Janeiro, where coverage was 52% and 8% of infants were treated. All of the parameters from this study were extrapolated to Brazilian newborn estimates in 2010. Costs of screening and treatment were estimated considering staff, equipment and maintenance, and training based on published data and expert opinion. A budget impact analysis was performed considering the population of preterm newborns, screening coverage, and the incidence of treatable ROP. One- and two-way sensitivity analyses were performed. RESULTS: In Rio de Janeiro, unit costs per newborn were US$ 18 for each examination, US$ 398 per treatment, and US$ 29 for training. The estimated cost of ROP diagnosis and treatment for all at-risk infants NICUs was US$ 80 per infant. The additional cost to the SUS for one year would be US$ 556 640 for a ROP program with 52% coverage, increasing to US$ 856 320 for 80% coverage, and US$ 1.07 million or 100% coverage. CONCLUSIONS: The results of this study indicate that providing ROP care is affordable within the framework of the SUS in Brazil, and might be feasible elsewhere in Latin America, considering the evidence of the effectiveness of ROP treatment and the social benefits achieved.


Assuntos
Custos de Cuidados de Saúde , Triagem Neonatal/economia , Retinopatia da Prematuridade/diagnóstico , Retinopatia da Prematuridade/terapia , Brasil , Árvores de Decisões , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Retinopatia da Prematuridade/economia
15.
J Community Genet ; 15(3): 235-247, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38730191

RESUMO

Up to 25% of pediatric cataract cases are inherited. There is sparse information in the literature regarding the cost of whole-exome sequencing (WES) for suspected hereditary pediatric cataracts. Molecular diagnosis of suspected hereditary pediatric cataracts is important for comprehensive genetic counseling. We performed a partial economic evaluation with a mixed costing analysis, using reimbursement data and microcosting approach with a bottom-up technique to estimate the cost of using WES for genetic diagnosis of suspected hereditary pediatric cataracts from the perspective of the Brazilian governmental health care system. One hundred and ten participants from twenty-nine families in Rio de Janeiro (RJ) were included. Costs of consumables, staff and equipment were calculated. Two scenarios were created: (1) The reference scenario included patients from RJ with suspected hereditary pediatric cataracts plus two family members. (2) The alternative scenario considered other genetic diseases, resulting in 5,280 exams per month. Sensitivity analysis was also performed. In the reference scenario, the total cost per exam was 700.09 United States dollars (USD), and in the alternative scenario, the total cost was 559.23 USD. The cost of WES alone was 527.85 USD in the reference scenario and 386.98 USD in the alternative scenario. Sensitivity analysis revealed that the largest costs were associated with consumables in both scenarios. Economic evaluations can help inform policy decisions, especially in middle-income countries such as Brazil.

16.
Artigo em Inglês | MEDLINE | ID: mdl-37174254

RESUMO

The 24-Hour Movement Guidelines provide specific recommendations on movement behaviors for children and adolescents. The objective of this study was to verify the adequacy of children and adolescents to the guidelines for moderate to vigorous physical activity, recreational screen time, and sleep duration, and the overall adequacy to the guidelines, before and during the COVID-19 pandemic. A cross-sectional study was conducted with parents or guardians of children or adolescents from different regions of Brazil using a digital interview form including sociodemographic characteristics of families, moderate to vigorous physical activity, recreational screen time, and sleep duration before and during the pandemic. Statistically significant variation was observed in both groups in relation to moderate to vigorous physical activity and recreational screen time between the two periods evaluated. Overall adequacy to the guidelines before the pandemic was 19.28% for children from Group 1 (0-5 years old) and 39.50% for those from Group 2 (6 to 17 years old). During the pandemic, it corresponded to 3.58% in Group 1 and 4.94% in Group 2 (p-value between periods ≤0.001). This study showed the significant impact of pandemic restrictions on reducing overall compliance and physical activity, and increasing screen time among Brazilian children and adolescents.


Assuntos
COVID-19 , Pandemias , Humanos , Criança , Adolescente , Recém-Nascido , Lactente , Pré-Escolar , Brasil/epidemiologia , COVID-19/epidemiologia , Estudos Transversais , Sono , Comportamento Sedentário
17.
J AAPOS ; 27(2): 116-119, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36898657

RESUMO

Retinopathy of prematurity (ROP) care in Brazil varies in availability of resources and infrastructure. A cross-sectional survey was conducted among ophthalmologists of the Brazilian ROP Group (BRA-ROP) to assess the profiles and practices of ophthalmologists involved in ROP care. A total of 78 responses of BRA-ROP participants (79%) were included. Participants were mostly retina experts (64.1%), female (65.4%), and over 40 years of age (60.2%). Eighty-six percent reported following Brazil's ROP screening criteria. Retinal imaging is available to 16.9% of respondents; fluorescein angiography, to 1.4%. For ROP stage 3 zone II (with plus disease), laser treatment was the preferred treatment (78.9%); for aggressive ROP, anti-VEGF was favored (66.2%). There were significant regional differences in treatment choice. Not all respondents continued to follow treated patients after discharge from the neonatal intensive care unit, highlighting an aspect of ROP care in need of improvement.


Assuntos
Oftalmologistas , Retinopatia da Prematuridade , Recém-Nascido , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Retinopatia da Prematuridade/terapia , Retinopatia da Prematuridade/prevenção & controle , Brasil , Estudos Transversais , Unidades de Terapia Intensiva Neonatal , Idade Gestacional
18.
Dis Model Mech ; 16(7)2023 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-37458166

RESUMO

An outbreak of births of microcephalic patients in Brazil motivated multiple studies on this incident. The data left no doubt that infection by Zika virus (ZIKV) was the cause, and that this virus promotes reduction in neuron numbers and neuronal death. Analysis of patients' characteristics revealed additional aspects of the pathology alongside the decrease in neuronal number. Here, we review the data from human, molecular, cell and animal model studies attempting to build the natural history of ZIKV in the embryonic central nervous system (CNS). We discuss how identifying the timing of infection and the pathways through which ZIKV may infect and spread through the CNS can help explain the diversity of phenotypes found in congenital ZIKV syndrome (CZVS). We suggest that intraneuronal viral transport is the primary mechanism of ZIKV spread in the embryonic brain and is responsible for most cases of CZVS. According to this hypothesis, the viral transport through the blood-brain barrier and cerebrospinal fluid is responsible for more severe pathologies in which ZIKV-induced malformations occur along the entire anteroposterior CNS axis.


Assuntos
Microcefalia , Infecção por Zika virus , Zika virus , Animais , Humanos , Infecção por Zika virus/complicações , Microcefalia/etiologia , Microcefalia/patologia , Sistema Nervoso Central/patologia , Barreira Hematoencefálica/patologia , Encéfalo/patologia
19.
Cad Saude Publica ; 39(11): e00247622, 2023.
Artigo em Português | MEDLINE | ID: mdl-38126419

RESUMO

We aimed to identify the reports of symptoms of depression, anxiety, and stress among caregivers of children without visual impairment, with low vision, and with blindness and their relationship with the degree of social, emotional, material, and affective support. This cross-sectional and multicenter study was conducted in the municipality of Rio de Janeiro, Brazil, from 2019 to 2020. A questionnaire was applied to obtain caregivers' sociodemographic and economic data. The Medical Outcomes Study Social Support Scale (MOS-SSS) and The Depression, Anxiety, and Stress Scale (DASS-21) were used. Tests were used for multiple comparisons of these scales. The prevalence ratio of symptoms of depression, anxiety, and stress was estimated. Of all caregivers (N = 355), more than 90% were women-mothers. Caregivers of children with visual impairment show the highest proportion of no schooling, incomplete elementary education, or lower average monthly income. Most caregivers of children with blindness reported symptoms of depression, anxiety, and stress (66.7%, 73.3%, and 80%, respectively) as did those of children with low vision. The evaluation of the relationship between MOS-SSS and DASS-21 results shows greater support and lower scores of reports of depression, anxiety, and stress for caregivers of children without disabilities or with less visual impairment. For caregivers of blind children, the highest prevalence of such reports was independent of the received support. Results indicate the need for a care policy with mechanisms to protect the mental health of caregivers of visually impaired children.


O objetivo foi identificar os relatos de sintomas de depressão, ansiedade e estresse entre cuidadores de crianças sem deficiência visual, com baixa visão e com cegueira e sua relação com o grau de apoio social, emocional, material e afetivo. Estudo transversal e multicêntrico, realizado no Município do Rio de Janeiro, Brasil, entre 2019 e 2020. Aplicou-se um questionário para obter dados sociodemográficos e econômicos do cuidador. Foram utilizadas a Escala de Apoio Social (The Medical Outcomes Study Social Support Scale - MOS-SSS) e a Escala de Depressão, Ansiedade e Estresse (The Depression, Anxiety, and Stress Scale - DASS-21). Na comparação entre as escalas, foram utilizados testes para comparações múltiplas. Estimou-se a razão de prevalência de sintomas de depressão, ansiedade e estresse. Do total de cuidadores (N = 355), mais de 90% eram mulheres-mães e a maior proporção de cuidadores sem instrução ou Ensino Fundamental incompleto e com menor renda média mensal foi daqueles de crianças com deficiência visual. A maioria dos cuidadores de crianças com cegueira relatou sintomas de depressão, ansiedade e estresse (respectivamente, 66,7%, 73,3% e 80%), mesmo comportamento observado no grupo de cuidadores de crianças com baixa visão. Na avaliação da relação entre os resultados das escalas MOS-SSS e DASS-21, entre os cuidadores de crianças sem deficiência ou com menor comprometimento visual, observou-se maiores apoios e menores escores de relatos de depressão, ansiedade e estresse. Entre os cuidadores de crianças cegas, as maiores prevalências não dependeram dos apoios recebidos. Os resultados indicam a necessidade de uma política de cuidado com mecanismos de proteção à saúde mental dos cuidadores de crianças com deficiência visual.


El objetivo fue identificar los relatos de síntomas de depresión, ansiedad y estrés entre cuidadores de niños sin discapacidad visual, con baja visión y con ceguera y su relación con el grado de apoyo social, emocional, material y afectivo. Estudio transversal y multicéntrico realizado en la ciudad de Río de Janeiro, Brasil, entre el 2019 y el 2020. Se aplicó un cuestionario para obtener datos sociodemográficos y económicos del cuidador. Se utilizaron la Escala de Apoyo Social (The Medical Outcomes Study Social Support Scale - MOS-SSS) y Escala de Depresión, Ansiedad y Estrés (The Depression, Anxiety, and Stress Scale - DASS-21). Al comparar las escalas, se utilizaron pruebas para comparaciones múltiples. Se estimó la razón de prevalencia de síntomas de depresión, ansiedad y estrés. Del total de cuidadores (N = 355), más del 90% eran mujeres madres y la mayor proporción de cuidadores sin escolaridad o con primaria incompleta y con menor ingreso mensual promedio fueron los de niños con discapacidad visual. La mayoría de los cuidadores de niños con ceguera reportó síntomas de depresión, ansiedad y estrés, respectivamente, 66,7%, 73,3% y 80%, mismo comportamiento observado en el grupo de cuidadores de niños con baja visión. Al evaluar la relación entre los resultados de las escalas MOS-SSS y DASS-21, entre los cuidadores de niños sin discapacidad o con menor compromiso visual, se observó mayor apoyo y menores puntajes de relatos de depresión, ansiedad y estrés. Entre los cuidadores de niños ciegos, la mayor prevalencia de tales relatos no dependió del apoyo recibido. Los resultados indican la necesidad de una Política de Cuidado con mecanismos para proteger la salud mental de los cuidadores de niños con discapacidad visual.


Assuntos
Depressão , Baixa Visão , Criança , Humanos , Feminino , Masculino , Estudos Transversais , Depressão/epidemiologia , Depressão/psicologia , Qualidade de Vida/psicologia , Cuidadores , Brasil/epidemiologia , Ansiedade/epidemiologia , Ansiedade/psicologia , Cegueira , Apoio Social , Estresse Psicológico/epidemiologia , Estresse Psicológico/psicologia
20.
Artigo em Inglês | MEDLINE | ID: mdl-36714276

RESUMO

Background: Knowledge regarding the risks associated with Zika virus (ZIKV) infections in pregnancy has relied on individual studies with relatively small sample sizes and variable risk estimates of adverse outcomes, or on surveillance or routinely collected data. Using data from the Zika Brazilian Cohorts Consortium, this study aims, to estimate the risk of adverse outcomes among offspring of women with RT-PCR-confirmed ZIKV infection during pregnancy and to explore heterogeneity between studies. Methods: We performed an individual participant data meta-analysis of the offspring of 1548 pregnant women from 13 studies, using one and two-stage meta-analyses to estimate the absolute risks. Findings: Of the 1548 ZIKV-exposed pregnancies, the risk of miscarriage was 0.9%, while the risk of stillbirth was 0.3%. Among the pregnancies with liveborn children, the risk of prematurity was 10,5%, the risk of low birth weight was 7.7, and the risk of small for gestational age (SGA) was 16.2%. For other abnormalities, the absolute risks were: 2.6% for microcephaly at birth or first evaluation, 4.0% for microcephaly at any time during follow-up, 7.9% for neuroimaging abnormalities, 18.7% for functional neurological abnormalities, 4.0% for ophthalmic abnormalities, 6.4% for auditory abnormalities, 0.6% for arthrogryposis, and 1.5% for dysphagia. This risk was similar in all sites studied and in different socioeconomic conditions, indicating that there are not likely to be other factors modifying this association. Interpretation: This study based on prospectively collected data generates the most robust evidence to date on the risks of congenital ZIKV infections over the early life course. Overall, approximately one-third of liveborn children with prenatal ZIKV exposure presented with at least one abnormality compatible with congenital infection, while the risk to present with at least two abnormalities in combination was less than 1.0%.

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