Utilidad y confiabilidad del cuestionario PreViAs para la evaluación de la visión en neonatos y lactantes turcos / The utility and reliability of the PreViAs questionnaire for the assessment of vision in Turkish neonates and infants

Introducción. La evaluación de la visión en los niños durante el periodo preverbal, con un método fácil de usar y basado en la evidencia, permitiría el diagnóstico temprano y la intervención en los trastornos visuales. El objetivo del estudio fue determinar la utilidad y confiabilidad de la versión en idioma turco del cuestionario Preverbal Visual Assessment (PreViAs), desarrollado para evaluar la visión en niños preverbales. Población y métodos. El cuestionario PreViAs se administró a los cuidadores primarios de niños nacidos de término, antes de los 24 meses de edad. Se registraron sus respuestas. Resultados. Se analizaron los datos de 278 participantes para evaluar la consistencia interna del cuestionario PreViAs. Se encontró un alto nivel de consistencia con un alfa de Cronbach de 0,958 para el puntaje total, lo que sugiere una fuerte coherencia interna. Los valores del alfa de Cronbach para cada dominio fueron: 0,890 ­ 0,913 ­ 0,951 y 0,922 para la atención visual, la comunicación visual, el procesamiento visual y la coordinación visomotora respectivamente; esto indica una buena consistencia interna para cada subdominio. Conclusión. La versión en idioma turco del cuestionario PreViAs es útil y confiable para evaluar la visión durante el periodo preverbal.

Introduction: Evaluating the visual functions of children with an easy-to-use and evidence-based method during the preverbal period will enable early diagnosis and intervention of visual impairments. The aim of this study is to determine the utility and reliability of the Turkish version of the Preverbal Visual Assessment (PreViAs) questionnaire, which was developed to evaluate the visual functioning of preverbal infants. Population and Methods: The PreViAs questionnaire was administered to primary caregivers of term infants under 24 months of age, and their responses were recorded. Results: Data from the 278 participating infants were analyzed to assess the internal consistency of the PreViAs questionnaire. Results showed a high level of consistency with Cronbach's alpha value of 0.958 for the total score, suggesting strong internal coherence. In addition, the Cronbach's alpha values for each domain were 0.890, 0.913, 0.951, and 0.922 for visual attention, visual communication, visual processing, and visual-motor coordination, respectively, indicating good internal consistency for each subdomain. Conclusion: The Turkish version of the PreViAs questionnaire is useful and reliable for assessing functional vision during the preverbal period.

Versión argentina de la herramienta de evaluación de la alimentación pediátrica PediEAT / Argentine version of the PediEAT, a pediatric eating assessment tool

Introducción. Durante la infancia, los niños pueden experimentar algún grado de dificultad al comer. Existe una herramienta, desarrollada en Estados Unidos, de evaluación de la alimentación pediátrica (PediEAT), que permite identificar síntomas problemáticos. Objetivo. Realizar una adaptación transcultural para una versión argentina, con adecuación cultural y equivalencia semántica respecto a su versión original. Población y métodos. Se utilizó una versión autoadministrada del PediEAT que fue respondida por familias y/o cuidadores de niños de 6 meses a 7 años. Se realizó una primera fase de evaluación de validez del contenido con un grupo de expertos. Luego, una fase de pretest con familias mediante entrevistas cognitivas para comprobar la comprensión de las palabras y frases. Se realizaron las modificaciones necesarias para que quedara adaptada al contexto. Resultados. En la fase de evaluación de validez del contenido con el grupo de 8 expertos, de los 80 ítems se modificaron 36. En el pretest, se realizaron entrevistas cognitivas a 18 cuidadores; se realizaron cambios en 11 ítems para mejorar la comprensión por parte de la población argentina. La versión argentina fue aprobada por los autores originales. Conclusiones. El instrumento PediEAT versión argentina resulta lingüísticamente equivalente a su versión original, lo que permite su uso para la detección de problemáticas alimentarias en niños.

Introduction. During childhood, children may experience some degree of difficulty eating. A tool (PediEAT) has been developed in the United States and is available to assess pediatric eating and to identify problematic symptoms. Objective. To obtain an Argentine version that is transculturally adapted, culturally adequate, and semantically equivalent to the original version. Population and methods. A self-administered version of the PediEAT was used and completed by families and/or caregivers of children aged 6 months to 7 years. In the first phase, content validity was assessed by a group of experts. This was followed by a pre-test phase with families using cognitive interviews to test word and phrase comprehension. The necessary changes were made to obtain a version adapted to the context. Results. The tool's content validity was assessed by a group of 8 experts; as a result, 36 of the 80 items were changed. During the pre-test phase, cognitive interviews were conducted with 18 caregivers; 11 items were changed to improve comprehension by the Argentine population. The Argentine version was approved by the original authors. Conclusions. The Argentine version of the PediEAT tool is linguistically equivalent to the original version, and this allows its use to screen for feeding problems in children.

Herramientas para el tamizaje de aneurisma de aorta abdominal / Tools for abdominal aortic aneurysm screening

Introducción. El aneurisma de la aorta abdominal (AAA) es la dilatación de la aorta abdominal mayor de 1,5 veces el diámetro esperado. Su prevalencia es variable, con tasas reportadas de hasta el 12,5 %. Se considera como causa de muerte de más de 10.000 personas al año en los Estados Unidos. El objetivo de esta revisión de la literatura fue describir los factores de riesgo y las herramientas de tamizaje de AAA. Métodos. Se realizó una búsqueda de la literatura utilizando dos ecuaciones en bases de datos electrónicas, empleando términos seleccionados de "Medical Subject Heading" (MeSH) y "Descriptores en Ciencias de la Salud" (DeCS). Se evaluó la calidad de los estudios con la herramienta STROBE (Strengthening the Reporting of Observational Studies in Epidemiology). Resultados. Se recolectaron 40 artículos y a partir de ellos se construyó el texto de revisión, identificando en estos, los factores de riesgo asociados al desarrollo de AAA, tales como sexo masculino, tabaquismo, hipertensión arterial, antecedente familiar y obesidad, entre otros. La diabetes mellitus parece actuar como factor protector. Dentro de los instrumentos de tamizaje, el ultrasonido abdominal es uno de los más usados. Conclusión. El AAA es una patología multifactorial. En la actualidad la ultrasonografía de aorta es el método de elección para el tamizaje, permitiendo la detección precoz. El tamizaje de AAA con métodos no invasivos, como el ultrasonido, es útil sobre todo en zonas con prevalencia alta de la patología y en pacientes con determinados factores de riesgo.

Introduction. Abdominal aortic aneurysm (AAA) is a dilation of the abdominal aorta greater than 1.5 times the expected diameter. Its prevalence is variable, with reported rates of up to 12.5%. It is considered the cause of death of more than 10,000 people a year in the United States. The objective of this literature review was to describe risk factors and screening tools for AAA. Methods. A literature search was conducted using two equations in electronic databases, using terms selected from "Medical Subject Heading" (MeSH) and "Descriptors in Health Sciences" (DeCS). The quality of the studies was evaluated with the STROBE (Strengthening the Reporting of Observational Studies in Epidemiology) tool. Results. Forty articles were collected and from them the review text was constructed, identifying the risk factors associated with the development of AAA, such as male sex, smoking, high blood pressure, family history and obesity, among others. Diabetes mellitus seems to act as a protective factor. Among the screening instruments, abdominal ultrasound is one of the most used. Conclusion. AAA is a multifactorial pathology. Currently, aortic ultrasonography is the method of choice for screening, allowing early detection. Screening for AAA with non-invasive methods, such as ultrasound, is useful especially in areas with a high prevalence of this pathology and in patients with certain risk factors.

Sobreuso de ecografía transvaginal en un hospital universitario privado de Argentina: estudio de corte transversal / Transvaginal ultrasound overuse in a private university hospital in Argentina: a cross-sectional study

Introducción. Si bien contamos con recomendaciones basadas en la evidencia en contra de realizar tamizaje de cáncer ovárico con ecografía transvaginal debido a que aumenta el riesgo de resultados falsamente positivos y de cascadas diagnósticas, sin disminuir la mortalidad por esta enfermedad, su solicitud en mujeres sanas es frecuente. Sin embargo, no conocemos la magnitud de la implementación de esta práctica, que constituye un cuidado de bajo valor. Objetivo. Documentar el sobreuso de ecografías transvaginales realizadas en forma ambulatoria en un hospital universitario privado de Argentina. Métodos. Estudio de corte transversal de una muestra aleatoria de ecografías realizadas en forma ambulatoria durante 2017 y 2018. Mediante revisión manual de las historias clínicas, la solicitud de cada ecografía fue clasificada como apropiada cuando algún problema clínico justificaba su realización, o inapropiada cuando había sido realizada con fines de control de salud o por una condición clínica sin indicación de seguimiento ecográfico. Resultados. De un total de 1.997 ecografías analizadas, realizadas a 1.954 mujeres adultas (edad promedio 50 años),1.345 (67,4 %; intervalo de confianza [IC] 95 % 65,2 a 69,4) habían sido solicitadas en el contexto de un control de saludo sin un problema asociado en la historia clínica y otras 54 (8,3 %; IC 95 % 6,3 a 10,7), por condiciones de salud para las que no hay recomendaciones de realizar seguimiento ecográfico. Conclusiones. Esta investigación documentó una alta proporción de sobre utilización de la ecografías transvaginales en nuestra institución. Futuras investigaciones permitirán comprender los motivos que impulsan esta práctica y ayudarán a diseñar intervenciones para disminuir estos cuidados de bajo valor. (AU)

Background. Although we have evidence-based recommendations against screening for ovarian cancer with transvaginalultrasound because it increases the risk of false positive results and diagnostic cascades without reducing mortality from this disease, its request in healthy women is frequent. However, we do not know the magnitude of the implementation of this practice, which constitutes low-value care. Objective. To document the overuse of transvaginal ultrasounds performed on an outpatient basis in a private university hospital in Argentina. Methods. Cross-sectional study of a random sample of outpatient ultrasounds performed during 2017 and 2018. Through a manual review of the medical records, the request for each ultrasound was classified as appropriate when a clinical problem justified its performance or inappropriate when it was carried out for health control purposes or for a clinical condition that had no indication for ultrasound follow-up. Results. Of a total of 1997 ultrasounds analyzed, performed on 1954 adult women (average age 50 years), 1,345 (67.4 %;95 % confidence interval [CI] 65.2 to 69.4) had been requested in the context of a health check-up or without a documented problem in the medical history that would support its performance, and another 54 (8.3 %; 95 % CI 6.3 to 10.7), for health conditions for which there are no treatment recommendations to perform ultrasound follow-up. Conclusions. This research documented a high proportion of overuse of transvaginal ultrasound in our institution. Future research will allow us to understand the reasons that drive this practice and will help design interventions to reduce thislow-value care. (AU)

Findings of ocular examinations in healthy full-term newborns / Achados de exame ocular realizado em recém-nascidos a termo saudáveis

ABSTRACT Purpose: To assess the anterior and posterior segments of full-term neonates over a 1.5-year period. Methods: The findings of full-term neonates who underwent ophthalmological examinations between June 2019 and December 2020 were analyzed, and the results were retrospectively recorded. Results: The study comprised 2972 neonates with a mean birth week of 38.7 ± 1.2 weeks and a mean birth weight of 3235 ± 464 g. The neonates were examined on an average of 49.3 ± 18.9 postnatal days. Of the examined neonates, 185 (6.2%) showed abnormal ophthalmological findings, the most prevalent of which were retinal hemorrhage in 2.3% (n=68) and white changes in the peripheral retina in 1.9% (n=55) of the neonates. Cases of optic disc pathologies (n=20), choroidal nevus (n=10), iris-choroidal coloboma (n=5), subconjunctival hemorrhage (n=6), non-specific retinal pigmentary change (n=4), congenital cataract (n=3), posterior synechia (n=3), iris nevus (n=3), corneal opacity (n=1), choroidal coloboma (n=1), iris coloboma (n=1), buphthalmos (n=1), anophthalmos (n=1), microphthalmia (n=1), lid hemangioma (n=1), and vitreous hemorrhage (n=1) collectively accounted for approximately 2% of all neonates. Pathologies that could potentially impair vision, which were detected by ophthalmological examination, accounted for 1.2% of all neonates (n=37). Conclusion: The most prevalent finding of the ophthalmological examinations of neonates in the present study was retinal hemorrhage. Ophthalmological examinations of neonates can help in identifying diseases that may affect their vision and are curable or may lead to amblyopia in the long term.

RESUMO Objetivo: Avaliar os segmentos anterior e posterior em recém-nascidos a termo durante um período de 1,5 anos. Métodos: Foram analisados recém-nascidos a termo que tiveram os olhos examinados entre junho de 2019 e dezembro de 2020, e os resultados foram registrados retrospectivamente. Resultados: O estudo foi composto por 2.972 recém-nascidos com média de uma semana de nascimento de 38,7 ± 1,2 semanas e um peso médio ao nascer de 3235 ± 464 g. Os recém-nascidos foram examinados em média pós-natal de 49,3 ± 18,9 dias. Dos recém-nascidos, 185 (6,2%) apresentaram resultados oculares anormais. Os achados oculares anormais mais prevalentes foram hemorragia da retina em 2,3% (n=68) e alterações brancas na retina periférica em 1,9% (n=55) dos recém-nascidos. Casos de patologias de disco óptico (n=20), nevo de coroide (n=10), coloboma iris-coroide (n=5), hemorragia subconjuntival (n=6), alteração pigmentar da retina não específica (n=4), catarata congênita (n=3), Sinequia posterior (n=3), nevo da íris (n=3), opacidade da córnea (n=1), coloboma de coroide (n=1), coloboma de íris (n=1), buftalmos (n=1), anoftalmia (n=1), microftalmia (n=1), hemangioma de pálpebra (n=1) e hemorragia vítrea (n=1) contabilizaram coletivamente cerca de 2% dos recém-nascidos. As patologias que potencialmente prejudicam a visão, detectadas por exame ocular, representaram 1,2% dos recém-nascidos (n=37). Conclusão: O achado mais prevalente de exames oculares de recém-nascidos neste estudo foi hemorragia da retina. Exames oftalmológicos em recém-nascidos podem ser úteis na identificação de doenças que podem impactar a visão deles, podendo ser curáveis ou levar à ambliopia no longo prazo.

Evidências de validade de critério concorrente e preditiva do Instrumento de Rastreio da Comunicação de Crianças de 0 a 36 meses (IRC-36) / Evidence of concurrent and predictive criterion validity of the Child Communication Screening Instrument from 0 to 36 months (IRC-36)

RESUMO Objetivo Determinar evidências de validade de critério concorrente e preditiva do Instrumento de Rastreio da Comunicação de crianças de 0 a 36 meses (IRC-36). Método Participaram da pesquisa 78 pais/responsáveis de crianças que frequentam o serviço de puericultura das Unidades de Saúde da Família, além de 33 crianças com idades entre 0 e 36 meses, convidadas para segunda etapa do estudo. Na primeira etapa do estudo, 13 profissionais de saúde foram treinados para realizar a aplicação do IRC-36 nos pais/responsáveis das crianças. No segundo momento, os pais responderam a uma nova aplicação do IRC-36 e as crianças foram avaliadas com o Denver II. Resultados O IRC-36 apresentou correlação com o Denver II em mais da metade dos casos, confirmando a validade de critério concorrente do instrumento. Os resultados do IRC-36 da primeira etapa quando correlacionados com o Denver II, não apresentaram valores significativos. O valor de ponto de corte do instrumento foi 12, sendo este o valor de referência entre crianças em risco e sem risco para alteração da comunicação. O instrumento apresentou valor de acurácia dentro dos níveis preconizados e alta sensibilidade. A ocorrência de risco para alteração da comunicação apresentou-se maior na segunda aplicação do IRC-36. Conclusão O estudo apresentou evidências de validade de critério concorrente, indicando que o instrumento possui evidências de medidas de acurácia e de validade para o rastreio da comunicação de crianças de 0 a 36 meses sendo capaz de identificar risco para as alterações da comunicação.

ABSTRACT Purpose To determine evidence of concurrent and predictive criterion validity of the Communication Screening Instrument for children aged 0 to 36 months (IRC-36). Methods 78 parents/guardians of children who attend the childcare service of the Family Health Centers participated in the research, in addition to 33 children aged between 0 and 36 months, invited to the second stage of the study. In its first stage, 13 health professionals were trained to apply the IRC-36 to the children's parents/guardians. In the second moment, the parents responded to a new IRC-36 application, and the children were evaluated with Denver II. Results IRC-36 correlated with Denver II in more than half of the cases, confirming the instrument's concurrent criterion validity. IRC-36 results in the first stage did not significantly correlate with Denver II. The instrument's cutoff value was 12, which is the reference value between children at risk and not at risk of communication disorders. The instrument had high sensitivity and an accuracy value within the recommended levels. The occurrence of risk of communication changes was higher in the second IRC-36 application. Conclusion The study presented evidence of concurrent criterion validity, indicating that the instrument has evidence of accuracy and validity measures to screen communication in children aged 0 to 36 months, being able to identify the risk for communication disorders.

Panorama da Saúde Auditiva infantil no Sistema Único de Saúde no estado de Sergipe / Children's Hearing Health Panorama in the Unified Health System in the state of Sergipe

RESUMO Objetivo Descrever o panorama da saúde auditiva infantil no Sistema Único de Saúde do estado de Sergipe. Método Estudo quantitativo e retrospectivo, composto por quatro etapas: 1) Busca no Cadastro Nacional de Estabelecimento de Saúde das instituições conveniadas ao Sistema Único de Saúde no estado de Sergipe que realizam serviços obstétricos e dos serviços que atuam na saúde auditiva; 2) Obtenção de dados de cobertura da Triagem Auditiva Neonatal (TAN), por meio do DATASUS (de 2012 a 2020); 3) Coleta de dados em prontuários das instituições com obstetrícia e/ou que realizam a TAN; e 4) Entrevista aos responsáveis das crianças em reabilitação auditiva. Os resultados foram sumarizados por meio de estatística descritiva (frequência absoluta e relativa, medidas de tendência central e de dispersão). Resultados Dos 29 estabelecimentos com obstetrícia, um realiza a TAN. Há dois Centros de Referência em Saúde Auditiva (CRSA) com habilitação para implante coclear e dois Centros Especializados em Reabilitação. De 2012 a 2020 a cobertura da TAN no estado foi inferior a 40% e quando realizada na maternidade, houve ausência de encaminhamentos para a realização do Potencial Evocado Auditivo de Tronco Encefálico (PEATE) e do diagnóstico audiológico. Observou-se cobertura considerável no CRSA com menor taxa de evasão para realizar PEATE e com taxa de diagnóstico de 4,8%. O tempo médio da TAN universal à reabilitação foi superior ao recomendado. Conclusão Existe necessidade de aumentar a cobertura da TAN, ajustar a rede de saúde auditiva para a articulação nos diferentes níveis de atenção e diminuir o tempo para identificação, diagnóstico e início da reabilitação.

ABSTRACT Purpose To describe the panorama of children's hearing health in the Unified Health System of the state of Sergipe. Methods A quantitative and retrospective study consisting of four steps: 1) Search the National Registry of Health Establishments of institutions affiliated to the Health Unic System in the state of Sergipe that perform obstetric services and hearing health services; 2) Collecting Neonatal Hearing Screening (NHS) coverage data through DATASUS (from 2012 to 2020); 3) Data collection from medical records of institutions with obstetrics and that perform NHS; and 4) Interview with the guardians of children undergoing auditory rehabilitation. The results were summarized using descriptive statistics (absolute and relative frequency, measures of central tendency, and dispersion). Results Only one out of the 29 establishments with obstetrics performs NHS. Two of the Hearing Health Reference Centers (HHRC) are qualified for cochlear implants and two Specialized Centers are qualified for Rehabilitation. From 2012 to 2020, NHS coverage in the state was less than 40%, and when performed in the maternity ward, there were no referrals for Brainstem Auditory Evoked Response (BERA) and audiological diagnosis. The HHRC showed considerable coverage and a lower evasion rate to perform BERA, with a diagnosis rate of 4.8%. The mean time from the NHS to rehabilitation was longer than recommended. Conclusion NHS coverage must be increased, adjusting the hearing health network to articulate the different levels of care, and reducing the time for identification, diagnosis, and start of rehabilitation.

Phytochemical Screening and chemical investigation of lipoidal matter of the leaves of Latania verschaffeltii Lem. Family Arecaceae cultivated in Egypt

Abstract This study presents the first preliminary phytochemical screening and investigation of the lipoidal matter of Latania verschaffeltii Lem. leaves, belonging to the Arecaceae family. Gas chromatography coupled with mass spectroscopy (GC/MS) was used to analyze and identify compounds of saponifiable and unsaponifiable content. The preliminary phytochemical screening of total methanolic extract of Latania verschaffeltii Lem. leaves revealed the presence of unsaturated sterols and/or triterpenes, carbohydrates and/or glycosides, flavonoids, tannins, saponins, and phenolic acids in the leaves. However, cardenolides, cyanogenic compounds, alkaloids, and iridoids were not detected. The results of the gas chromatography/mass spectrometry (GC/MS) analysis indicated that the percentage of saturated fatty acids (83.82%) is higher than that of unsaturated fatty acids (9.42%). The predominant methyl ester of a saturated fatty acid detected in the sample was hexadecanoic acid methyl ester, accounting for 41.68% of the total. The composition of the unsaponifiable matter consisted of hydrocarbons (5.66%), fatty alcohols (0.96%), terpenes (85.97%), and sterols (2.18%). The major terpenes observed were phytol (43.62%) and squalene (39.27%).

Rational drug repurposing for alzheimer's treatment using in-silico ligand and structure-based approaches

Abstract Alzheimer's disease is a devastating neurodegenerative disorder characterized by memory loss and cognitive decline. New AD treatments are essential, and drug repositioning is a promising approach. In this study, we combined ligand-based and structure-based approaches to identify potential candidates among FDA-approved drugs for AD treatment. We used the human acetylcholinesterase receptor structure (PDB ID: 4EY7) and applied Rapid Overlay of Chemical Structures and Swiss Similarity for ligand-based screening.Computational shape-based screening revealed 20 out of 760 FDA approved drugs with promising structural similarity to Donepezil, an AD treatment AChE inhibitor and query molecule. The screened hits were further analyzed using docking analysis with Autodock Vina and Schrodinger glide. Predicted binding affinities of hits to AChE receptor guided prioritization of potential drug candidates. Doxazosin, Oxypertine, Cyclopenthiazide, Mestranol, and Terazosin exhibited favorable properties in shape similarity, docking energy, and molecular dynamics stability.Molecular dynamics simulations confirmed the stability of the complexes over 100 ns. Binding free energy analysis using MM-GBSA indicated favourable binding energies for the selected drugs. ADME, formulation studies offered insights into therapeutic applications and predicted toxicity.This comprehensive computational approach identified potential FDA-approved drugs (especially Doxazosin) as candidates for repurposing in AD treatment, warranting further investigation and clinical assessment.

Brazilian adaptation of the McLean Screening Instrument for Borderline Personality Disorder

Abstract Objective Borderline personality disorder (BPD) is a serious and extremely prevalent mental disorder. Early diagnosis is vital for treatment. However, there are no specific screening instruments validated for Brazilian Portuguese. This study aimed to adapt the McLean Screening Instrument for Borderline Personality Disorder (MSI-BPD) to the Brazilian context. The MSI-BPD is a self-report instrument based on the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5), that enables fast and reliable assessment of BPD, with measures of sensitivity (SN) and specificity (SP) similar to the diagnostic interview for the DSM-5 (Structured Clinical Interview for DSM-V Axis II Disorders [SCID-II]), taken as the gold standard. Methods Two independent translations, a synthesis version, back-translation, and analysis by experts were employed to create the final version of the instrument in Brazilian Portuguese. The translated instrument was administered to 1,702 adults aged 18-59 years to verify evidence of validity relating to content, internal structure, relationship with other variables, and reliability. Results The exploratory and confirmatory factor analyses show that the one-factor structure is adequate. The scale showed satisfactory internal consistency (Kuder-Richardson coefficient [KR-20] of Cronbach's alpha = 0.691) and good test-retest reliability (intraclass correlation coefficient [ICC] = 0.802). Logistic regression analysis using the Personality Inventory for the DSM-5-Brief Form (PID-5-BF) (DSM-5) as reference established an ideal cut-off point of eight symptoms, with adequate SN (0.79) and SP (0.75), similar to the original instrument. The area under the curve (AUC) was 0.830 (95% confidence interval: 0.802-0.858), with a positive predictive value of 89.2%. Conclusion The Brazilian version of the MSI-BPD has adequate psychometric properties for use as a BPD screening tool by clinicians.

Cystic fibrosis: when neonatal screening is unsatisfactory for early diagnosis / Fibrose cística: quando a triagem neonatal é insatisfatória para o diagnóstico precoce

Abstract Introduction: cystic fibrosis newborn screening must enable its earlier diagnosis, which may enhance outcomes. This study was a series case of delayed-diagnosis children submitted to cystic fibrosis newborn screening. Description: fourteen children were included; eight (57.1%) were due to false-negative screening, while six (42.9%) were due to processing errors. Two samples collected after 30 days of life were incorrectly classified as negative, and four infants with a positive test could not be located due to screening processing errors. Cystic fibrosis diagnosis was confirmed at a median (IQR) age of 5.3 (4.2-7.4) months. Poor nutritional status was the most prevalent clinical sign at diagnosis, being present in 78.6% of infants. The mean (SD) weight-for-length and length-for-age Z-scores were -3.46 (0.84) and -3.99 (1.16), respectively. Half of the children had Pseudo-Bartter syndrome, and 42.9% had breathing difficulties. Twelve children (85.7%) required hospitalization, with a median (IQR) length of stay of 17.0 (11.5-26.5) days. Discussion: newborn screening had some faults, from incorrect collections to inefficient active search. Early identification of these children in which screening was unsatisfactory is essential, emphasizing the importance and efforts to not miss them. In the case of a failed test, healthcare professionals must be prepared to recognize the main symptoms and signs of the disease.

Resumo Introdução: a triagem neonatal para fibrose cística deve contribuir para diagnóstico precoce e melhor prognóstico da doença. O estudo é uma série de casos com lactentes submetidos à triagem, porém com diagnóstico tardio da doença. Descrição: quatorze crianças foram incluídas; oito (57,1%) com triagem falso-negativo e seis (42,9%) com erros processuais na triagem neonatal. Duas amostras foram coletadas tardiamente, sendo incorretamente classificadas como negativas e quatro lactentes com triagem positiva não foram localizados, por erros na busca ativa. Confirmou-se o diagnóstico da fibrose cística com idade mediana (IIQ) de 5,3 (4,2-7,4) meses. O Comprometimento nutricional precoce foi o sinal clínico mais prevalente ao diagnóstico, presente em 78,6% das crianças. Os Z escores médios (SD) do peso para altura e altura para idade foram -3,46 (0,84) e -3,99 (1,16), respectivamente. Metade das crianças teve síndrome de Pseudo-Bartter e 42,9% dificuldade respiratória. Doze crianças (85,7%) precisaram hospitalização com tempo mediano de permanência de 17 dias. Discussão: a triagem neonatal para fibrose cística apresentou falhas, desde testes falso-negativos, coletas incorretas, até problemas com a busca ativa. Entretanto, o diagnóstico ágil é essencial e os profissionais de saúde devem reconhecer os sintomas e sinais precoces da doença, mesmo quando a triagem neonatal não for satisfatória.

Effectiveness Evaluation of Low-dose Spiral Computed Tomography for Lung Cancer Screening in Minhang District of Shanghai / 中国肺癌杂志

BACKGROUND@#Low-dose spiral computed tomography (LDCT) has been recommended for lung cancer screening in high-risk populations. However, evidence from Chinese populations was limited due to the different criteria for high-risk populations and the short-term follow-up period. This study aimed to evaluate the effectiveness in Chinese adults based on the Lung Cancer Screening Program in Minhang District of Shanghai initiated in 2013.@*METHODS@#A total of 26,124 subjects aged 40 years or above were enrolled in the Lung Cancer Screening Program during the period of 2013 and 2017. Results of LDCT examination, and screen-detected cancer cases in all participants were obtained from the Reporting System of the Lung Cancer Screening Program. The newly-diagnosed cases and their vital status up to December 31, 2020 were identified through a record linkage with the Shanghai Cancer Registry and the Shanghai Vital Statistics. Standardized incidence ratio (SIR) and 95%CI were calculated using the local population at ages of 40 or above as the reference. Proportions of early-stage cancer (stage 0-I), pathological types, and 5-year observed survival rates of lung cancer cases were estimated and compared between the cases derived from the screened and non-screened populations. Cox regression models were applied to evaluate the hazard ratio (HR) and 95%CI of LDCT screening with all-cause death of the lung cancer cases.@*RESULTS@#The crude and age-standardized incidence of lung cancer in screened population were 373.3 (95%CI: 343.1-406.1) and 70.3 per 100,000 person-years, respectively, with an SIR of 1.8 (95%CI: 1.6-1.9), which was observed to decrease with following-up time. The early-stage cancer accounted for 49.4% of all lung cancer cases derived from the screened population, significantly higher than 38.4% in cases from the non-screened population during the same period (P<0.05). The proportion of lung adenocarcinoma (40.7% vs 35.9%) and 5-year survival rate (53.7% vs 41.5%) were also significantly higher in the cases from the screened population (all P<0.05). LDCT screening was associated with 30% (HR=0.7, 95%CI: 0.6-0.8) reduced all-cause deaths of the cases.@*CONCLUSIONS@#The participants of the screening program are at high-risk of lung cancer. LDCT favors the early-detection of lung cancer and improves 5-year survival of the screened cases, indicating a great potential of LDCT in reducing the disease burden of lung cancer in Chinese populations.

Knowledge, attitudes, and practices in colorectal cancer screening in the Philippines

Background and Objective@#Colorectal cancer (CRC) has the third highest incidence in the Philippines. Currently, there is a paucity in literature that is focused on the knowledge, attitudes, and perceptions of Filipinos regarding CRC screening. This is the first study in the Philippines that describes this. @*Methods@#This is a cross-sectional study that validated a 52-item Filipino questionnaire on the knowledge on colorectal cancer, willingness to undergo CRC screening, and perceived benefits and barriers to fecal occult blood test (FOBT) and colonoscopy. The study enrolled household heads more than 20 years of age residing in both urban and rural communities in the Philippines. @*Results@#The UP-PGH CRC KAP (University of the Philippines – Philippine General Hospital Colorectal Cancer Knowledge, Attitudes, and Practices) and Rawl Questionnaire’s validity and internal consistency were established in a pilot study of 30 respondents. A total of 288 respondents were then enrolled to the main study group with a median age of 54.0. Knowledge scores for prognosis and utility of CRC screening were modest (6.3/12 and 8.4/20, respectively). Perceived benefit scores to FOBT and colonoscopy were high (9.9/12 and 13.9/16, respectively).Median scores to barriers to FOBT and colonoscopy were intermediate (22.5/36 and 35.8/60, respectively). Notably, a vast majority (86.1%) were willing to participate in CRC screening programs initiated by the government, and 46.9% agreed to undergo screening tests even as out-of-pocket expense. @*Conclusion@#The UP-PGH CRC KAP Questionnaire as well as the Filipino translation of the Rawl Questionnaire are reliable and valid tools in extensively assessing the knowledge of Filipinos on CRC and willingness to undergo screening, as well as the benefits of and barriers to FOBT and colonoscopy. Knowledge scores were modest suggesting that directed educational campaigns and awareness programs can aid in increasing awareness about CRC and its screening. Household income and highest educational attainment were significantly positively correlated with knowledge scores, and perceived benefits of and barriers to CRC screening. Scores were generally comparable between urban and rural communities.

Anti-SARS-CoV-2 activity of small molecule inhibitors of cathepsin L / 药学学报

The coronavirus disease 2019 (COVID-19) is an acute infectious disease caused by the new severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, which has led to serious worldwide economic burden. Due to the continuous emergence of variants, vaccines and monoclonal antibodies are only partial effective against infections caused by distinct strains of SARS-CoV-2. Therefore, it is still of great importance to call for the development of broad-spectrum and effective small molecule drugs to combat both current and future outbreaks triggered by SARS-CoV-2. Cathepsin L (CatL) cleaves the spike glycoprotein (S) of SARS-CoV-2, playing an indispensable role in enhancing virus entry into host cells. Therefore CatL is one of the ideal targets for the development of pan-coronavirus inhibitor-based drugs. In this study, a CatL enzyme inhibitor screening model was established based on fluorescein labeled substrate. Two CatL inhibitors IMB 6290 and IMB 8014 with low cytotoxicity were obtained through high-throughput screening, the half inhibition concentrations (IC50) of which were 11.53 ± 0.68 and 1.56 ± 1.10 μmol·L-1, respectively. SDS-PAGE and cell-cell fusion experiments confirmed that the compounds inhibited the hydrolysis of S protein by CatL in a concentration-dependent manner. Surface plasmon resonance (SPR) detection showed that both compounds exhibited moderate binding affinity with CatL. Molecular docking revealed the binding mode between the compound and the CatL active pocket. The pseudovirus experiment further confirmed the inhibitory effects of IMB 8014 on the S protein mediated entry process. In vitro pharmacokinetic evaluation indicated that the compounds had relatively good drug-likeness properties. Our research suggested that these two compounds have the potential to be further developed as antiviral drugs for COVID-19 treatment.

Biosensor analysis technology and its research progress in drug development of Alzheimer's disease / 药学学报

Biosensor analysis technology is a kind of technology with high specificity that can convert biological reactions into optical and electrical signals. In the development of drugs for Alzheimer's disease (AD), according to different disease hypotheses and targets, this technology plays an important role in confirming targets and screening active compounds. This paper briefly describes the pathogenesis of AD and the current situation of therapeutic drugs, introduces three biosensor analysis techniques commonly used in the discovery of AD drugs, such as surface plasmon resonance (SPR), biolayer interferometry (BLI) and fluorescence analysis technology, explains its basic principle and application progress, and summarizes their advantages and limitations respectively.

Prevalence and influencing factors analysis of the polycystic ovary syndrome among female college students in Fuzhou City， Jiangxi Province / 上海预防医学

ObjectiveTo investigate the prevalence of polycystic ovary syndrome （PCOS） among female college students at a university in Fuzhou City， Jiangxi Province， and to facilitate early detection and intervention of PCOS. MethodsUsing a stratified sampling method， a total of 450 female freshmen were randomly selected for PCOS screening. A self-designed questionnaire was used for data collection， covering menstrual status， high androgen signs， lifestyle， dietary habits， and awareness of PCOS. Sample t test and χ2 test were used to compare the basic information and dietary habits between PCOS and non-PCOS cases. The correlation between various indicators and the prevalence of PCOS was analyzed by a logistic regression model. ResultsA total of 12 PCOS cases were identified， with a prevalence rate of 2.99%. PCOS cases exhibited statistically significant differences compared to non-PCOS cases in terms of waist-to-hip ratio， waist circumference， abdominal obesity， the proportion of overweight or obese individuals， and a preference for sweet food （all P<0.05）. Multivariate logistic regression analysis revealed a significant correlation between preference for sweet food and the occurrence of PCOS （OR=4.858， 95%CI=1.199‒19.675，P=0.027）， as well as a significant correlation with PCOS accompanied by abdominal obesity （OR=7.083， 95%CI=0.773‒64.937， P=0.048）. Among the female college students surveyed， 37.90% had never heard of PCOS， 51.62% were only familiar with the name of the disease， and 10.47% had attempted to search for PCOS-related information. ConclusionThe prevalence of PCOS among female college students should not be overlooked and unhealthy dietary habits may be a crucial factor contributing to the occurrence of PCOS during this period. Early screening for PCOS during puberty is crucial.

Research progress of early screening and clinical prevention services for high-risk population with cardiovascular diseases / 公共卫生与预防医学

Cardiovascular diseases are preventable and controllable, and the disease burden caused by them can be reduced after preventive intervention. Attentions should be paid to the prevention of disease causes. For high-risk population, it is necessary to conduct early screening of cardiovascular diseases, control risk factors, reduce exposure level, prevent and control the occurrence or progression of diseases. Clinical prevention services are to evaluate risk factors of health in clinical sites, which can prevent diseases by personalized intervention measures. Clinical prevention services for high-risk population with cardiovascular diseases are generally at a low level in China. This article reviews the early screening, risk factors and clinical prevention services for high-risk population with cardiovascular diseases.

Application of Circulating Tumor DNA in Precision Diagnosis and Treatment of Colorectal Cancer / 肿瘤防治研究

Colorectal cancer (CRC) is one of the most common malignant tumors recorded worldwide. This condition has high morbidity and mortality and seriously endangers people's health. Traditional diagnostic models fail to meet people's current needs for real-time monitoring of tumors. Compared with traditional detection methods, ctDNA detection is not only noninvasive but can also attain real-time detection of comprehensive genomic information of tumors. The advancement of detection technology has gradually highlighted the potential of ctDNA detection in the clinical treatment of CRC. This article reviews the advancements on the clinical application of ctDNA in early screening, minimal residual disease detection, and guidance on individualized treatment of CRC patients.

Prevalence and influencing factors of mild cognitive impairment in the elderly in Songjiang District, Shanghai / 环境与职业医学

Background With the aging of China's population, cognitive impairment in the elderly is receiving increasing public attention. Screening and intervention of people with mild cognitive impairment (MCI) are of great significance to prevent and reduce the occurrence of cognitive impairment. Objective To understand the prevalence and explore potential influencing factors of MCI in the elderly in Songjiang District, Shanghai, and to provide scientific basis for promoting early screening of cognitive impairment and precise intervention of MCI in the elderly in this area. Methods A cross-sectional study design was adopted. From August to October 2022, using multi-stage random sampling, 1800 elderly residents aged 60 years and above were screened for cognitive impairment in 6 neighborhood/village committees in 6 towns in Songjiang District. The survey questionnaires included a sociodemographic questionnaire, a health status and lifestyle questionnaire, the Instrumental Activities of Daily Living (IADL), the Patient Health Questionnaire (PHQ-9), and the Mini-Mental State Examination (MMSE). Prevalence rates of MCI among the elderly by selected social demographic characteristics, health status, and lifestyle were estimated, and potential influencing factors of MCI were evaluated by binary logistic regression. Results A total of 209 elderly residents with MCI and 1591 healthy elderly residents were detected, and the prevalence of MCI in the elderly aged 60 and above was 11.6% in Songjiang District. Being physically active (OR=0.556, 95%CI: 0.399, 0.774) reduced the risk of MCI. Illiteracy (OR=1.810, 95%CI: 1.239, 2.644), primary school education level (OR=3.454, 95%CI: 2.342, 5.092), non-participation in social activities (OR=1.945, 95%CI: 1.360, 2.781), IADL damaged (OR=3.173, 95%CI: 2.137, 4.712), and depression (OR=1.957, 95%CI: 1.112, 3.443) increased the risk of MCI (P＜0.05). Conclusion The prevalence of MCI among the elderly in Songjiang District is lower than the national average. Educational level, physical activity, participation in social activities, IADL, and depression may be the influencing factors of MCI in the elderly. It is recommended to carry out early screening, early detection, and early intervention for cognitive impairment in the elderly. Improving involvement in physical exercise and increasing participation in social activities are encouraged. Special attention should be paid to the needs of vulnerable groups such as low education level and disabled elderly during a community MCI intervention program.

Fundus screening results and related factors of fundus diseases in 5 307 newborns / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To explore the results of fundus screening in 5 307 newborns and the related factors of fundus diseases.METHODS: A total of 5 307 newborns who underwent fundus screening in our ophthalmology department from January to December 2022 were selected. RetCam III system was used for fundus examination, and abnormal fundus conditions were recorded. The influencing factors of retinal hemorrhage in full-term infants and retinopathy of prematurity(ROP)in preterm infants were analyzed.RESULTS: The incidence of ocular abnormalities in newborns was 27.17%, with the highest incidence of retinal hemorrhage(61.23%), followed by retinal exudation(22.95%), ROP and ROP like retinopathy(10.68%). The incidence of morning glory syndrome(0.21%), albino fundus(0.21%), and permanent fetal vasculature(PFV; 0.28%)was lower. The incidence of eye abnormalities in full-term infants was lower than that in preterm infants(26.30% vs 30.08%, P&#x003C;0.05), and the incidence of retinal hemorrhage and exudation in full-term infants was higher than that in preterm infants(P&#x003C;0.05). The incidence of ROP and ROP like retinopathy in preterm infants was higher than that in full-term infants(P&#x003C;0.05). Natural delivery is a risk factor for retinal hemorrhage in full-term infants(P&#x003C;0.05). Fetal age(32-34, 30-31 wk), birth weight(1 500-2 499, &#x003C;1 500 g), milk powder feeding, and oxygen inhalation are risk factors for ROP in premature infants(all P&#x003C;0.05).CONCLUSION: The incidence of eye abnormalities in newborns at our hospital is relatively high, and early detection of eye abnormalities in newborns can be achieved through fundus screening.