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BACKGROUND: Several screening strategies for identifying congenital CMV (cCMV) have been proposed; however, the optimal solution has yet to be determined. We aimed to determine the prevalence of cCMV by universal screening with saliva pool testing and to identify the clinical variables associated with a higher risk of cCMV to optimize an expanded screening strategy. METHODS: We carried out a prospective universal cCMV screening (September/2022 to August/2023) of 2186 newborns, analyzing saliva samples in pools of five (Alethia-LAMP-CMV®) and then performed confirmatory urine CMV RT-PCR. Infants with risk factors (small for gestational age, failed hearing screening, HIV-exposed, born to immunosuppressed mothers, or <1000 g birth weight) underwent expanded screening. Multivariate analyses were used to assess the association with maternal/neonatal variables. RESULTS: We identified 10 infants with cCMV (prevalence: 0.46%, 95% CI 0.22-0.84), with significantly higher rates (2.1%, 95% CI 0.58-5.3) in the high-risk group (p = 0.04). False positives occurred in 0.09% of cases. No significant differences in maternal/neonatal characteristics were observed, except for a higher prevalence among infants born to non-Chilean mothers (p = 0.034), notably those born to Haitian mothers (1.5%, 95% CI 0.31-4.34), who had higher odds of cCMV (OR 6.82, 95% CI 1.23-37.9, p = 0.04). Incorporating maternal nationality improved predictive accuracy (AUC: 0.65 to 0.83). CONCLUSIONS: For low-prevalence diseases such as cCMV, universal screening with pool testing in saliva represents an optimal and cost-effective approach to enhance diagnosis in asymptomatic patients. An expanded screening strategy considering maternal nationality could be beneficial in resource-limited settings.
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Infecções por Citomegalovirus , Citomegalovirus , Países em Desenvolvimento , Triagem Neonatal , Saliva , Humanos , Saliva/virologia , Infecções por Citomegalovirus/diagnóstico , Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/epidemiologia , Infecções por Citomegalovirus/virologia , Recém-Nascido , Feminino , Citomegalovirus/genética , Citomegalovirus/isolamento & purificação , Estudos Prospectivos , Triagem Neonatal/métodos , Masculino , Técnicas de Diagnóstico Molecular/métodos , Prevalência , Programas de Rastreamento/métodos , Sensibilidade e Especificidade , Gravidez , Fatores de RiscoRESUMO
The asymptomatic population's role in COVID-19 transmission poses challenges for control efforts. Pregnant women are susceptible to severe manifestations, increasing maternal and perinatal morbidity and mortality. This study describes the clinical characteristics, maternal and fetal outcomes, and our experience in universal severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) screening of pregnant women admitted to a high-complexity obstetric unit in Latin America. Of 568 pregnant women tested for SARS-CoV-2, 23 obtained a positive result. Among these patients, 17% had symptoms at admission, and 0.2% reported an epidemiological link. Pregnant women with positive were associated with an increased risk of eclampsia (16.7% vs 4.9%, P = .014) and acute respiratory distress (16.7% vs 4.9%, P = .014). In this group, 4 patients developed maternal near misses, and no maternal deaths were noted. Two early perinatal deaths occurred in the positive SARS-CoV-2 test group (2, 9.5% vs 17, 4.1%, P = .235). The high prevalence of asymptomatic pregnant women with SARS-CoV-2 and the adverse outcomes for those infected during pregnancy highlights the importance of universal screening upon hospital admission. This approach streamlines risk management, and enhances service structure, resource allocation, care pathways, patient management, follow-up, and overall outcomes.
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OBJECTIVE: To examine the classification rates and screening properties, including sensitivity and specificity, of the web-based Modified Checklist for Autism in Toddler, Revised with Follow-Up (M-CHAT-R/F) compared with paper-phone administration, and to determine the extent to which electronic M-CHAT-R/F streamlines screening, increases screening fidelity, increases diagnostic evaluation participation, and decreases waiting time from screening to evaluation compared with paper-phone modality. STUDY DESIGN: Primary-care practices in urban and suburban settings administered either the web-based or paper-phone M-CHAT-R/F using a prospective nonrandomized control design. Toddlers (n = 17â900) were screened between 2009 and 2016 at routine well-child check-ups. Toddlers who screened at risk on the M-CHAT-R/F were invited to complete diagnostic evaluations; 176 children were diagnosed with autism. The χ2, Fisher exact, and t-tests, as well as regression and screening properties, were used to compare outcome distributions, screening properties, and implementation by modality. RESULTS: Classification rates of the initial M-CHAT-R into low, medium, and high risk were significantly different across modalities with very small effect sizes. Sensitivity and specificity were high across both modalities. For children in the medium-risk range, the web-based modality had a greater rate of predicting risk for autism after Follow-Up compared with the paper-phone modality, and the web eliminated delay between initial screen and Follow-Up. The web-based modality showed increased screening fidelity, no data loss, and similar rates of evaluation attendance and time to evaluation from Follow-Up administration. CONCLUSIONS: The web-based M-CHAT-R/F is a valid tool for universal autism screening. Systems-level decisions should balance the increased feasibility of the electronic administration with the increase in Follow-Up accuracy provided by skilled clinician interview.
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Transtorno do Espectro Autista , Transtorno Autístico , Humanos , Pré-Escolar , Lactente , Transtorno Autístico/diagnóstico , Programas de Rastreamento , Lista de Checagem , Estudos Prospectivos , Sensibilidade e Especificidade , Transtorno do Espectro Autista/diagnósticoRESUMO
OBJECTIVE: Our study aimed to evaluate the expected cost-effectiveness of pediatric universal screening for the early diagnosis of familial hypercholesterolemia in Argentina using a probabilistic model. METHODS: Two different healthcare technologies were compared: (1) Universal screening of hypercholesterolemia at 6 years of age and (2) previous diagnostic situation (comparator). The perspective of the public Argentine healthcare system funded by the National Ministry of Health was used, considering only direct costs. Effectiveness was evaluated in terms of the number of life-years gained (LYG) and quality-adjusted life-years (QALYs) obtained by identifying familial hypercholesterolemia through each of the screening strategies. Only direct costs of screening and treatment of each strategy were evaluated. The time horizon was extended to 60 years. Future avoided costs of prevented coronary events were also included. Cost-effectiveness was measured in terms of the incremental cost-effectiveness ratio (ICER) per LYG and QALYs. Different scenarios were evaluated: (1) only index case, (2) index case and first-degree relatives, and (3) index case and first-degree relatives measuring QALYs. Sensitivity studies were conducted. RESULTS: Each identified child complying with follow-up visits and treatment gains 8.14 life-years. The ICER values obtained were 1465.35 USD/LYG and 1726.50 USD/LYG when applying a discount rate of 5%. The ICER was 10%-17% of the gross domestic product per capita in Argentina (mean 2010-2019: 12 446 USD) and did not exceed the minimum annual retirement income. CONCLUSION: Pediatric universal screening for familial hypercholesterolemia could be considered a cost-effective health technology in Argentina.
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Hipercolesterolemia , Hiperlipoproteinemia Tipo II , Humanos , Criança , Análise Custo-Benefício , Argentina/epidemiologia , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/epidemiologia , Modelos EstatísticosRESUMO
Introducción: La hipoacusia congénita es una patología frecuente entre los recién nacidos con gran impacto en su calidad de vida si no es diagnosticada y tratada precozmente. Para su pesquisa, se recomienda, internacionalmente, el tamizaje auditivo universal neonatal (TAUN), que desde 2014 se aplica en el Hospital Clínico La Florida Dra. Eloísa Díaz Insunza (HLF). Objetivo: Describir la experiencia del programa de TAUN del Servicio de Otorrinolaringología HLF. Material y Método: Estudio descriptivo, retrospectivo. Se incluyó a todos los recién nacidos vivos (RNV) del establecimiento entre 2015 y 2021, evaluados de acuerdo con el protocolo del programa. Resultados: Fueron evaluados 17.804 RNV. Se obtuvo una cobertura de 97,1% y tasa de referencia de 0,98%. Se confirmaron a 21 pacientes con hipoacusia sensorioneural (HSN), obteniéndose una tasa de HSN de 1,5 cada 1.000 RNV. Conclusión: La tasa de incidencia de HSN congénita fue similar a la estimada a nivel mundial. El programa de TAUN HLF cumple con estándares internacionales en cuanto a cobertura, tiempo de evaluación del tamizaje y tasa de referencia. El trabajo multidisciplinario, mejoría de tecnología y registro adecuado de pacientes, son las principales fortalezas. La dificultad de seguimiento durante horario inhábil y presencia de sólo un profesional con dedicación exclusiva, son aspectos a perfeccionar.
Introduction: Congenital hearing loss is a frequent pathology among newborns with great impact on their quality of life if it is not diagnosed and treated early. The Joint Committee on Infant Hearing recommends universal newborn hearing screening (UNHS) and has been applied at the Hospital Clínico La Florida Dra. Eloísa Díaz Insunza (HLF) since 2014. Aim: To describe the experience of UNHS program at the Otolaryngology Service of the HLF. Material and Method: Descriptive, retrospective study, including all newborns of the HLF between 2015 and 2021. They were evaluated according to the protocol proposed in the program. Results: 17804 newborns were evaluated. Coverage of 97,1% and a referral rate of 0,98% were obtained. Twenty-one patients with sensorineural hearing loss (SNHL) were confirmed, obtaining a SNHL rate of 1.5 per 1000 live births. Conclusion: The incidence rate of congenital SNHL is similar to that estimated worldwide. The UNHS program in HLF complies with international standards in terms of coverage, timing and referral rates. Multidisciplinary work, improved technology and adequate patient registration are the main strengths of the program. The difficulty of follow-ups during the weekends and the presence of only one full-time professional are aspects that can be improved.
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Humanos , Recém-Nascido , Triagem Neonatal/métodos , Perda Auditiva/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Epidemiologia Descritiva , IncidênciaRESUMO
Alcohol-associated liver disease is one of the main causes of chronic liver disease. It comprises a clinical-histologic spectrum of presentations, from steatosis, steatohepatitis, to different degrees of fibrosis, including cirrhosis and severe necroinflammatory disease, called alcohol-associated hepatitis. In this focused update, we aim to present specific therapeutic interventions and strategies for the management of alcohol-associated liver disease. Current evidence for management in all spectra of manifestations is derived from general chronic liver disease recommendations, but with a higher emphasis on abstinence and nutritional support. Abstinence should comprise the treatment of alcohol use disorder as well as withdrawal syndrome. Nutritional assessment should also consider the presence of sarcopenia and its clinical manifestation, frailty. The degree of compensation of the disease should be evaluated, and complications, actively sought. The most severe acute form of this disease is alcohol-associated hepatitis, which has high mortality and morbidity. Current treatment is based on corticosteroids that act by reducing immune activation and blocking cytotoxicity and inflammation pathways. Other aspects of treatment include preventing and treating hepatorenal syndrome as well as preventing infections although there is no clear evidence as to the benefit of probiotics and antibiotics in prophylaxis. Novel therapies for alcohol-associated hepatitis include metadoxine, interleukin-22 analogs, and interleukin-1-beta antagonists. Finally, granulocyte colony-stimulating factor, microbiota transplantation, and gut-liver axis modulation have shown promising results. We also discuss palliative care in advanced alcohol-associated liver disease.
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BACKGROUND: COVID-19 symptoms vary widely among pregnant women. We aimed to assess the most frequent symptoms amongst pregnant women with SARS-CoV-2 infection in a tertiary hospital in Mexico City. METHODS: A cross-sectional study of pregnant women attending the National Institute of Perinatology in Mexico City was performed. All women who attended the hospital, despite their symptoms, were tested for SARS-CoV-2. A multivariate-age-adjusted logistic regression was used to assess the association between the main outcome and each characteristic of the clinical history. RESULTS: A total of 1880 women were included in the data analysis. Among all women, 30.74% (n = 578) had a positive PCR for SARS-CoV-2 from which 2.7 (n = 50) were symptomatic. Symptoms associated with a positive PCR result were headache (p=.01), dyspnea (p=.043), and myalgia (p=.043). CONCLUSIONS: At universal screening for SARS-CoV-2, one-third of the population had a positive result, while those symptoms associated with a positive PCR were headache, dyspnea, and myalgia.
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COVID-19 , Complicações Infecciosas na Gravidez , Feminino , Gravidez , Humanos , COVID-19/epidemiologia , SARS-CoV-2 , Gestantes , Estudos Transversais , Mialgia , México/epidemiologia , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/epidemiologia , Fatores de Risco , Dispneia , CefaleiaRESUMO
BACKGROUND: To identify readers who are struggling or at risk of reading difficulties, reference standards in oral reading fluency (ORF) are used to conduct an assessment that is based on a widely reported method known as curriculum-based measurement (CBM), which itself is based on 1-min fluency measures. The purpose of this study was to evaluate students' ORF (with a 1-min fluency measure) to characterize their fluency and to determine references of appropriate development in reading at the 50th percentile. METHOD: For this study, a database of readings made available by the Learning Studies Research Laboratory was used. This database consisted of 365 readings by elementary-school students from the third to fifth grades in two cities in the interior of the state of São Paulo from two different public school systems that use the same teaching methodology. The data consisted of digital audio recordings of the passage "The Umbrella" (text suitable for schooling levels) of the Protocol for Assessment of Reading Comprehension procedure. For this procedure, three steps were performed: step 1-listening to the 365 readings and assessing the scores for the number of words read correctly per minute; step 2-the calculation of the mean and percentiles for each grade; and step 3-the adaptation of the reference table to indicate students eligible to receive reading fluency intervention. RESULTS: Third-year students who correctly read 86 or more words per minute, fourth-year students who correctly read 104 or more words per minute, and fifth-year students who correctly read 117 or more words per minute were considered students who had made adequate progress in reading. CONCLUSION: It was possible to classify students based on the 1-min fluency measures, with reference intervals of words read correctly per minute per school year (for the third, fourth, and fifth years) for those who were making adequate progress in reading and reference intervals for those who were considered readers who were struggling or at risk of reading difficulties.
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Resumen La principal infección viral transmisible por sangre es actualmente la debida al virus de hepatitis C (VHC). Uno de los mayores obstáculos para el logro de su control en la Argentina se relaciona con las dificultades de acceso al diagnóstico y tratamiento oportuno de las personas infectadas. Este estudio se realizó con el objetivo de caracterizar a los pacientes infectados con VHC que iniciaron tratamiento con antivirales de acción directa (AAD) y describir la experiencia vinculada al tratamiento. Se seleccionaron las historias clínicas de 82 pacientes, 44 (53.7%) de sexo masculino, 37 (45.1%) de sexo femenino, y uno (1.2%) transgénero. La media de edad fue de 49 años. Se halló una frecuencia de cirrosis de 39%, 32 pacientes, coinfección con HIV en 48 (58.5%) y con VHB en 27 (32.9%). En 52 (63.4%) no se observó ningún factor de riesgo claramente asociado a infección. Todos completaron la terapia, de ellos 72 (87.8%) efectuaron el control para confirmar respuesta viral sostenida (RVS), que fue de 98.6%. Concluimos que el testeo universal debe implementarse por sobre el testeo con enfoque de riesgo, y que debe promoverse un criterio de atención simplificado y descentralizado, reservando la atención especializada para pacientes con cirrosis descompensada y cáncer de hígado.
Abstract Hepatitis C virus (HCV) infection is currently the main blood-borne viral infection. One of the main obstacles to achieving its control in Argentina is related to difficulties in accessing the diagnosis and timely treatment of infected people. We carried out this study with the aim of characterizing the HCV-infected patients who started treatment with direct-acting antivirals (DAAs) and to describe the experience related to treatment. The medical records of 82 patients, 44 (53.7%) male, 37 (45.1%) female, and one (1.2%) transgender, were selected. The mean age was 49 years. We report a frequency of cirrhosis, 39%, in 32 patients, coinfection with HIV in 48 (58.5%) and with HBV in 27 (32.9%). In 52 patients (63.4%), no risk factor clearly associated with infection was observed. All completed the therapy, of them 72 (87.8%) carried out the control to confirm sustained viral response (SVR), that attained 98.6%. We conclude that universal testing should be implemented over testing based on a risk approach, and that a simplified and decentralized care criterion should be promoted, reserving specialized care for patients with decompensated cirrhosis and liver cancer.
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Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Antivirais/uso terapêutico , Infecções por HIV/tratamento farmacológico , Hepatite C/diagnóstico , Hepatite C/tratamento farmacológico , Hepatite C/epidemiologia , Hepatite C Crônica/tratamento farmacológico , Coinfecção/epidemiologia , Argentina/epidemiologia , Hepacivirus , Cirrose HepáticaRESUMO
Hepatitis C virus (HCV) infection is currently the main blood-borne viral infection. One of the main obstacles to achieving its control in Argentina is related to difficulties in accessing the diagnosis and timely treatment of infected people. We carried out this study with the aim of characterizing the HCV-infected patients who started treatment with direct-acting antivirals (DAAs) and to describe the experience related to treatment. The medical records of 82 patients, 44 (53.7%) male, 37 (45.1%) female, and one (1.2%) transgender, were selected. The mean age was 49 years. We report a frequency of cirrhosis, 39%, in 32 patients, coinfection with HIV in 48 (58.5%) and with HBV in 27 (32.9%). In 52 patients (63.4%), no risk factor clearly associated with infection was observed. All completed the therapy, of them 72 (87.8%) carried out the control to confirm sustained viral response (SVR), that attained 98.6%. We conclude that universal testing should be implemented over testing based on a risk approach, and that a simplified and decentralized care criterion should be promoted, reserving specialized care for patients with decompensated cirrhosis and liver cancer.
La principal infección viral transmisible por sangre es actualmente la debida al virus de hepatitis C (VHC). Uno de los mayores obstáculos para el logro de su control en la Argentina se relaciona con las dificultades de acceso al diagnóstico y tratamiento oportuno de las personas infectadas. Este estudio se realizó con el objetivo de caracterizar a los pacientes infectados con VHC que iniciaron tratamiento con antivirales de acción directa (AAD) y describir la experiencia vinculada al tratamiento. Se seleccionaron las historias clínicas de 82 pacientes, 44 (53.7%) de sexo masculino, 37 (45.1%) de sexo femenino, y uno (1.2%) transgénero. La media de edad fue de 49 años. Se halló una frecuencia de cirrosis de 39%, 32 pacientes, coinfección con HIV en 48 (58.5%) y con VHB en 27 (32.9%). En 52 (63.4%) no se observó ningún factor de riesgo claramente asociado a infección. Todos completaron la terapia, de ellos 72 (87.8%) efectuaron el control para confirmar respuesta viral sostenida (RVS), que fue de 98.6%. Concluimos que el testeo universal debe implementarse por sobre el testeo con enfoque de riesgo, y que debe promoverse un criterio de atención simplificado y descentralizado, reservando la atención especializada para pacientes con cirrosis descompensada y cáncer de hígado.
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Antivirais , Coinfecção , Infecções por HIV , Hepatite C Crônica , Hepatite C , Antivirais/uso terapêutico , Argentina/epidemiologia , Coinfecção/tratamento farmacológico , Feminino , Infecções por HIV/tratamento farmacológico , Hepacivirus , Hepatite C/diagnóstico , Hepatite C/tratamento farmacológico , Hepatite C/epidemiologia , Hepatite C Crônica/tratamento farmacológico , Humanos , Cirrose Hepática , Masculino , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: Colorectal cancer is the leading cause of cancer death in Puerto Rico and third among Hispanics in the USA. Up to 2-4% of colorectal cancer cases are a result of Lynch syndrome (LS), a hereditary cancer syndrome caused by a germline mutation in at least one of the DNA mismatch repair genes. The objective of this study was to determine the prevalence of LS in colorectal tumors during the first 15-months after the implementation of universal tumor-based screening for LS in Puerto Rico. METHODS: A total of 317 colorectal tumors were evaluated in a large private pathology laboratory from September 2014 to December 2015. Clinical characteristics were obtained from the pathology reports. Unadjusted and adjusted logistic regression models were used to estimate the magnitude of association (odds ratio [OR] with 95% confidence intervals [CI]) between absent MMR protein expression and patient characteristics. RESULTS: Most cases (93.4%) were analyzed by immunohistochemistry; 11.8% (35 of 296) had deficient mismatch repair protein expression. While 29 of the 317 cases were subjected to PCR-based microsatellite instability analysis of which 10.3% (3 of 317) had microsatellite instability. In total, 11.0% of the tumors were reported MMR deficient. These tumors were more likely from females and more likely localized in the proximal colon compared to those with proficient MMR expression. CONCLUSIONS: Our data is consistent with the results from other studies including US Hispanics, where approximately 10% of Hispanic individuals with colorectal cancer have microsatellite instability. Our results support universal tumor-based screening for LS among Hispanics in accordance with National Comprehensive Cancer Network guidelines.
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Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/etnologia , Detecção Precoce de Câncer , Hispânico ou Latino/genética , Assistência de Saúde Universal , Idoso , Neoplasias Colorretais Hereditárias sem Polipose/genética , Estudos Transversais , Reparo de Erro de Pareamento de DNA , Feminino , Hispânico ou Latino/estatística & dados numéricos , Humanos , Imuno-Histoquímica , Masculino , Instabilidade de Microssatélites , Pessoa de Meia-Idade , Porto RicoRESUMO
Abstract Background: To identify readers who are struggling or at risk of reading difficulties, reference standards in oral reading fluency (ORF) are used to conduct an assessment that is based on a widely reported method known as curriculum-based measurement (CBM), which itself is based on 1-min fluency measures. The purpose of this study was to evaluate students' ORF (with a 1-min fluency measure) to characterize their fluency and to determine references of appropriate development in reading at the 50th percentile. Method: For this study, a database of readings made available by the Learning Studies Research Laboratory was used. This database consisted of 365 readings by elementary-school students from the third to fifth grades in two cities in the interior of the state of São Paulo from two different public school systems that use the same teaching methodology. The data consisted of digital audio recordings of the passage "The Umbrella" (text suitable for schooling levels) of the Protocol for Assessment of Reading Comprehension procedure. For this procedure, three steps were performed: step 1—listening to the 365 readings and assessing the scores for the number of words read correctly per minute; step 2—the calculation of the mean and percentiles for each grade; and step 3—the adaptation of the reference table to indicate students eligible to receive reading fluency intervention. Results: Third-year students who correctly read 86 or more words per minute, fourth-year students who correctly read 104 or more words per minute, and fifth-year students who correctly read 117 or more words per minute were considered students who had made adequate progress in reading. Conclusion: It was possible to classify students based on the 1-min fluency measures, with reference intervals of words read correctly per minute per school year (for the third, fourth, and fifth years) for those who were making adequate progress in reading and reference intervals for those who were considered readers who were struggling or at risk of reading difficulties.
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Humanos , Masculino , Feminino , Criança , Leitura , Estudantes/estatística & dados numéricos , Avaliação Educacional/métodos , Brasil , Currículo , Ensino Fundamental e Médio , Deficiências da AprendizagemRESUMO
INTRODUCCIÓN Y OBJETIVOS: El Síndrome Respiratorio Agudo Grave Coronavirus 2 (SARSCoV-2) es una enfermedad altamente contagiosa y que puede ser transmitida por pacientes asintomáticos. Por esto surge el interés de poder determinar la prevalencia de la infección por SARS-Cov-2 en pacientes embarazadas que ingresan para interrupción de la gestación. MÉTODOS: Se realizó un análisis descriptivo, retrospectivo en el Servicio de Obstetricia y Ginecología de Hospital de Carabineros de Chile entre el 15 de mayo y el 30 junio del 2020. Se incluyeron todas las mujeres embarazadas que ingresaron para interrupción de la gestación, a las que se les realizó el examen PCR SARS-CoV-2; y una encuesta de signos y síntomas sugerentes de la enfermedad. RESULTADOS: Se realizaron 73 interrupciones de la gestación, con toma de PCR a 72 mujeres; de estas pacientes 65 (90.3%) fueron negativas, 5 (6.9%) positivas y 2 (2.8%) indeterminadas; los resultados indeterminados fueron considerados como positivos, por lo que la prevalencia de positividad fue de 9,5%. De estas pacientes, sólo 1 de ellas tenía síntomas sugerentes de la enfermedad, todas las demás (6) eran pacientes asintomáticas, y se mantuvieron así durante toda la hospitalización. CONCLUSIÓN: La realización del examen PCR para SARS-CoV-2 a todas las embarazadas que ingresan a un servicio de Ginecología y Obstetricia ayuda a identificar a las pacientes asintomáticas contagiadas con el virus. Ya que la consulta por presencia de signos y síntomas no permite identificar los casos positivos, es necesario considerar la realización de este examen en los protocolos de ingreso hospitalario a lo largo de nuestro país.
INTRODUCTION AND OBJECTIVES: Severe Acute Respiratory Syndrome Coronavirus (SARSCoV-2) is a highly contagious disease that can be transmitted by asymptomatic patients. Therefore, is of interest to determine the prevalence of SARS-Cov-2 infection in pregnant patients entering for interruption. METHODS: A descriptive, retrospective analysis was performed in the Obstetrics and Gynecology Service of the Hospital de Carabineros de Chile between May 15 and June 30, 2020. Pregnant women who entered for interruption of their pregnancy and who were given the SARS-CoV-2 PCR exam were included. A survey of signs and symptoms suggestive of the disease was applied. RESULTS: There were 73 pregnancy interruptions, 72 of them were tested by SARS-CoV-2 PCR exam. Among these patients, 65 (90.3%) resulted negative, 5 (6.9%), were positive and 2 (2.8%) were indeterminate; indeterminate results were considered positive, so the prevalence of positivity was 9.5%. Of these patients only 1 had symptoms suggestive of the disease, all the others (6) were asymptomatic, and remained so throughout the hospitalization. CONCLUSION: Conducting the PCR test for SARS-CoV-2 for all pregnant women entering a Gynecology and Obstetrics service helps to identify asymptomatic patients infected with the virus. As a survey of signs and symptoms cannot identify positive patiens, it is necessary to consider conducting universal screeing in hospital admission protocols throughout our country.
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Humanos , Feminino , Gravidez , Adulto , Adulto Jovem , Pneumonia Viral/epidemiologia , Complicações Infecciosas na Gravidez/epidemiologia , Infecções por Coronavirus/epidemiologia , Betacoronavirus , Pneumonia Viral/diagnóstico , Complicações Infecciosas na Gravidez/diagnóstico , Unidade Hospitalar de Ginecologia e Obstetrícia/estatística & dados numéricos , Resultado da Gravidez , Cesárea/estatística & dados numéricos , Chile , Programas de Rastreamento , Reação em Cadeia da Polimerase , Prevalência , Inquéritos e Questionários , Estudos Retrospectivos , Infecções por Coronavirus/diagnóstico , PandemiasRESUMO
OBJECTIVE: To report the frequency of Lynch syndrome (LS) in a cohort of patients from Southeast Brazil bearing endometrial cancer (EC), using a tumor screening universal approach. METHODS: A total of 242 endometrial carcinomas were screened by immunohistochemistry (IHC) and microsatellite instability (MSI) for detection of DNA mismatch repair deficiency (dMMR). MLH1 methylation was assessed to identify sporadic cases. Patients with dMMR tumors were recruited for germline variant analysis by next-generation sequencing of the MLH1, MSH2, MSH6, PMS2, and EPCAM genes. RESULTS: Ninety-three out of 242 tumors (38.5%) were classified as dMMR based on MSI and IHC results. Of these, 54 cases were selected for germline analysis, and 37/54 (68.5%) were available for sequencing. Ten patients (10/37, 27%) harbored germline pathogenic or likely pathogenic variants, most of them in the MSH6 gene (4/10, 40%). Seven variants of uncertain significance were found. Eight novel germline variants were identified. The LS prevalence in our cohort was of at least 4.1%. LS patients presented lower mean age at cancer diagnosis compared with patients diagnosed with sporadic EC. Individuals with dMMR tumors, without germline pathogenic variants detected in LS-genes ("Lynch-like" syndrome), had an intermediate mean age at cancer diagnosis between LS and sporadic cases. CONCLUSION: This is the first report of the LS prevalence in EC screened by a universal approach in Brazil. Our findings contribute to a better understanding of the mutational landscape of this syndrome in Brazil, which is relevant for improved identification, genetic counseling, prevention and control of cancer in LS.
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Biomarcadores Tumorais/genética , Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Detecção Precoce de Câncer/estatística & dados numéricos , Neoplasias do Endométrio/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/análise , Brasil/epidemiologia , Neoplasias Colorretais Hereditárias sem Polipose/complicações , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais Hereditárias sem Polipose/prevenção & controle , Metilação de DNA , Reparo de Erro de Pareamento de DNA , Análise Mutacional de DNA , Neoplasias do Endométrio/diagnóstico , Neoplasias do Endométrio/patologia , Neoplasias do Endométrio/prevenção & controle , Endométrio/patologia , Feminino , Aconselhamento Genético/organização & administração , Aconselhamento Genético/estatística & dados numéricos , Mutação em Linhagem Germinativa , Heterozigoto , Humanos , Imuno-Histoquímica , Instabilidade de Microssatélites , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Estudos RetrospectivosRESUMO
ABSTRACT Objective Maternal hypothyroidism during pregnancy may lead to adverse outcomes. Recently published guidelines by the American Thyroid Association (ATA) do not advocate for universal screening but recommend a case-finding approach in high-risk pregnant women. The present study aims to evaluate the accuracy of this approach in identifying women with thyroid dysfunction during early pregnancy. Subjects and methods This is a multiple-center, cross-sectional study. Three hundred and one pregnant women were enrolled. Anamnesis and a physical examination were performed to detect which women fulfilled the criteria to undergo laboratory screening of thyroid dysfunction, according to the ATA's 2017 guidelines. The Zulewski's validated clinical score was applied to assess signs and symptoms of hypothyroidism. Serum levels of thyrotropin (TSH), free thyroxine (FT4), anti-thyroperoxidase (TPO-Ab), and anti-thyroglobulin (Tg-Ab) antibodies were determined. Results Two hundred and thirty one women (78%) were classified as high risk, and 65 (22%) were classified as low risk for thyroid dysfunction. Regarding the clinical score, 75 patients (31.2%) presented mild symptoms that were compatible with SCH, of which 22 (7.4%) had symptoms as the only risk factor for thyroid disease. 17 patients (5.7%) had SCH, of which 10 (58.8%) belonged to the high-risk group, and 7 (41.2%) belonged to the low-risk group. OH was found in 4 patients (1.4%): 3 (75%) in the high-risk group and 1 (25%) in the low-risk group. Conclusions The ATA's proposed screening criteria were not accurate in the diagnosis of thyroid dysfunction in pregnancy. Testing only the high-risk pregnant women would miss approximately 40% of all hypothyroid patients.
Assuntos
Humanos , Feminino , Gravidez , Adulto , Complicações na Gravidez/diagnóstico , Programas de Rastreamento/métodos , Hipotireoidismo/diagnóstico , Primeiro Trimestre da Gravidez , Testes de Função Tireóidea , Estudos Transversais , Fatores de Risco , Medição de RiscoRESUMO
OBJECTIVES: To determine the prevalence of and demographic characteristics associated with toxic stress risk factors by universal screening, the impact of screening on referral rates to community resources, and the feasibility and acceptability of screening in a medical home setting. STUDY DESIGN: We developed the Addressing Social Key Questions for Health Questionnaire, a 13-question screen of adverse childhood experiences (ACEs) and unmet social needs. Parents/guardians of children 0-17 years of age received this questionnaire at well-child visits at 4 academic clinics from August 1, 2016 to February 28, 2017. Providers reviewed the tool and referred to community resources as needed. A subset of families completed demographic and satisfaction surveys. Prevalence of ACEs and unmet social needs, community referral rates at 1 site with available data, and family acceptability data were collected. Analyses included frequency distributions, χ2 tests, and Poisson regression. RESULTS: Of 2569 families completing an Addressing Social Key Questions for Health Questionnaire, 49% reported ≥1 stressor; 6% had ≥1 ACE; 47% had ≥1 unmet social need. At 1 site, community referral rates increased from 2.0% to 13.3% (P < .0001) after screening implementation. Risk factors for having a stressor include male sex and African American or Hispanic race. 86% of 446 families want clinics to continue screening. CONCLUSIONS: Universal screening for toxic stress risk factors in pediatric primary care improved identification and management of family needs. Screening was feasible and acceptable to families. Prevalence of unmet social needs but not ACEs was comparable with prior studies. Further evaluation and modification of the screening protocol is needed to increase screening and identification.
Assuntos
Adultos Sobreviventes de Eventos Adversos na Infância/estatística & dados numéricos , Programas de Rastreamento/métodos , Atenção Primária à Saúde/estatística & dados numéricos , Medição de Risco/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Prevalência , Estudos Retrospectivos , Fatores de Risco , Estados UnidosRESUMO
Microsatellite instability (MSI) is a hallmark tool for Lynch syndrome (LS) screening and a prognostic marker for sporadic colorectal cancer (CRC). In regions with limited resources and scarce CRC molecular characterization as South America, the implementation of universal MSI screening is under debate for both its purposes. We sought to estimate the frequency of BAT26 in colorectal adenocarcinomas and to determine associated clinical and histological features. Consecutive patients from a CRC registry were included. BAT26 determination was performed in all cases; if instability was found, immunohistochemistry (IHC) and BRAF mutation analyses were done, as appropriate. Differences were assessed by chi-squared or Fisher's exact test, or by T test or Mann-Whitney. Multiple logistic regression was used to identify factors independently associated with BAT26-unstable tumors. We included 155 patients; mean age was 65.6 (SD 14.4) and 56.1% were male. The frequency of BAT26-unstable tumors was 22% (95% CI 15.7-29.3). Factors independently associated with BAT26-unstable tumors were right colon localization (OR 3.4, 95% CI 1.3-8.7), histological MSI features (OR 5.1, 95% CI 1.9-13.6) and Amsterdam criteria (OR 23.2, 95% CI 1.9-286.7). IHC was altered in 85.3% BAT26-unstable tumors and 70.6% lacked MLH1 expression; 47.8% of these harbored BRAF V600E mutation. We provide evidence to link the frequency of BAT26 to an increased diagnostic yield (up to 1.4-folds) of suspected LS cases in comparison to the revised Bethesda guidelines alone. In regions with limited resources, clinical and histological features associated with BAT26-unstable status could be useful to direct MSI screening in sporadic CRCs and may help guide clinical care and future research.
Assuntos
Adenocarcinoma/genética , Biomarcadores Tumorais/genética , Neoplasias Colorretais/genética , Marcadores Genéticos/genética , Repetições de Microssatélites/genética , Adenocarcinoma/diagnóstico , Adenocarcinoma/patologia , Adulto , Idoso , Argentina , Estudos de Coortes , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/patologia , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais Hereditárias sem Polipose/patologia , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Instabilidade de Microssatélites , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Subclinical hypothyroidism (SCH) has been reported to be associated with adverse pregnancy outcomes, however universal screening and treatment is controversial. OBJECTIVES: Our objectives were to determine population-specific pregnancy reference values (R1) for serum thyroid-stimulating hormone (TSH) and free thyroxine (FT4) at 14 weeks' gestation, along with the prevalence of SCH and thyroid peroxidase antibody (TPOAb). METHODS: This was a prospective hospital-based cohort study. 1,402 subjects were recruited. Blood samples were obtained from 769 singleton pregnancies due to default between recruitment and scheduled blood draw. The prevalence of SCH was determined using R1, the laboratory non-pregnant reference values (R2) and previously recommended pregnancy reference values (R3). RESULTS: R1 for TSH and FT4 was 0.03-3.17 mU/l (mean ± SD, 1.1 ± 0.76) and 8.85-17.02 pmol/l (mean ± SD, 11.96 ± 2.06), respectively. The prevalence of SCH using reference values R1, R2 and R3 was 1.4% (11/769), 0.5% (4/769) and 1.9% (15/769). Prevalence was significantly greater using R3 when compared to R2 (p = 0.011). TPOAb prevalence was 2.6%. A significantly greater prevalence of TPOAb was found in subclinical hypothyroid subjects using all three reference values than in euthyroid subjects (â¼25 vs. 2%, p < 0.05). CONCLUSIONS: These reference values are the first to be reported for an Afro-Caribbean population. Our findings support the use of pregnancy-specific reference values in our population.