RESUMO

SUMMARY OBJECTIVE: The objective of this study was to analyze the genetic alterations of tumors within the scope of the homologous recombination deficiency gene panel in patients diagnosed with synchronous endometrial ovarian cancer who have been followed for over 5 years using next-generation sequencing. METHODS: DNA was isolated from the patient's formalin-fixed, paraffin-embedded tissue blocks. Next-generation sequencing was performed using the Illumina capture-based sequencing method. Samples were sequenced using the Sophia HR Solution DNA Kit. RESULTS: Seven patients were included in this study. The ratios of likely pathogenic (LP)/pathogenic (P) somatic mutations in ATM (serine/threonine kinase or Ataxia-telangiectasia mutated gene), BRCA2 (breast cancer type 2 susceptibility gene), BARD1 (BRCA1 associated RING domain 1), TP53 (tumor protein p53), BIRP1 (BRCA1-interacting helicase 1 gene), PALB2 (partner and localizer of BRCA2), and CHECK2 were 21 (48.8%), 8 (18.6%), 5 (11.6%), 3 (6.9%), 2 (4.6%), 2 (4.6%), and 2 (4.6%), respectively, in endometrium, and the ratios of somatic mutations in ATM, BRCA2, TP53, BARD1, RAD54L (DNA repair/recombination protein like), BIRP1, and RAD51D (RAD51 recombinase paralog D) were 24 (60%), 6 (15%), 5 (12.5%), 2 (5%), 2 (5%), 1 (2.5%), and 1 (2.5%), respectively, in ovary. In endometrioid-synchronous endometrial ovarian cancer cases, P/LP mutations were observed in ATM and CHECK2 genes in endometrium and ATM, BRCA2, and TP53 genes in ovary. In two non-endometrioid-synchronous endometrial ovarian cancer cases, CHEK2 (checkpoint kinase 2) mutations were observed in endometrium and ATM and TP53 mutations in ovary, whereas in one case, P/LP mutations in ATM and TP53 genes were common in both tissues. CONCLUSION: Pathogenic variations confirming the diagnosis of synchronous endometrial ovarian cancer with genetic alterations were identified in all but one case. ATM gene mutation emerged as the most common alteration and has a potential association with a favorable prognosis.

RESUMO

SUMMARY: In this study, we aim to share the volumes of the carpal bone and the ratio of these volumes to the total volume of wrist bones from Computed Tomography (CT) images obtained from individuals of different ages and sex using 3D Slicer. Right wrist CT images of 0.625 mm slice thickness of 42 healthy individuals (21 female, 21 male) of both sexes were included in our study. Volume calculations were made by loading the images into 3D Slicer, an open-source software package. In this study, mean capitate volume was the largest in both sexes (male 3479.9±679.2; female 2207.1±272.1 mm3), while pisiform had the smallest mean volume (male 810.0±141.2; female 566.6±97.7 mm3). This order was ordered from largest to smallest as hamate, scaphoid, trapezium, lunate, triquetrum, trapezoid, and pisiform. According to this study, carpal bone volumes were larger in males than in females (p0.05). In this study, it was seen that carpal bone volume differed according to sex. However, it was observed that the bone volumes of both sexes took up the same amount in the total bone volume. This information will be very useful in sex determination, 3D anatomical material creation, implant applications and reconstructive surgery.

Nuestro objetivo fue determinar los volúmenes de los huesos del carpo y la relación entre estos volúmenes y el volumen total de estos huesos a partir de imágenes de TC obtenidas de individuos de diferentes edades y sexos utilizando 3D Slicer. En el estudio se incluyeron imágenes de TC del carpo de la mano derecha de los participantes en el estudio, con un grosor de corte de 0,625 mm, en 42 individuos sanos (21 mujeres, 21 hombres) de ambos sexos. Los cálculos de volumen se realizaron cargando las imágenes en 3D Slicer, un paquete de software de código abierto. El volumen medio del hueso capitado fue el mayor en ambos sexos (hombre 3479,9 ± 679,2; mujer 2207,1 ± 272,1 mm3), mientras que el hueso pisiforme tuvo el volumen medio más pequeño (hombre 810,0 ± 141,2; mujer 566,6 ± 97,7 mm3). De mayor a menor el volumen de los otros huesos fue: hamato, escafoides, trapecio, lunato, piramidal, trapezoide y pisiforme. Según este estudio, los volúmenes óseos del carpo eran mayores en hombres que en mujeres (p0,05). En este estudio se observó que el volumen de los huesos del carpo difería según el sexo. Sin embargo, se observó que los volúmenes óseos de ambos sexos ocuparon la misma cantidad del volumen óseo total. Esta información será de gran utilidad en la determinación del sexo, creación de material anatómico 3D, aplicaciones de implantes y cirugía reconstructiva.

Assuntos

RESUMO

OBJECTIVE: This study was conducted to examine the relationship between the pre-operative anxiety levels of patients scheduled for thoracic surgery and their e-health literacy levels pertaining to skills such as finding and evaluating electronic health information about health problems. METHODS: This study was a descriptive and correlational study. One hundred and two patients scheduled for thoracic surgery were interviewed in Izmir. The Amsterdam pre-operative anxiety and information scale (APAIS), the Visual Analog Scale for anxiety (VAS-A), the eHealth literacy scale (eHEALS), and a patient information form were used to collect data. RESULTS: The mean VAS-A score of the patients was 6.02 ± 2.51, their mean APAIS score was 18.73 ± 5.85, and their mean eHEALS score was 24.84 ± 9.21. There was no significant relationship between the anxiety and e-health literacy levels of the patients. Significant differences were found in the e-health literacy levels of the patients according to their ages and reasons for surgery. CONCLUSION: Patients scheduled for thoracic surgery were determined to experience moderate anxiety and need moderate levels of information. The patients were also found to have moderate e-health literacy levels. There was no significant relationship between the anxiety and e-health literacy levels of the patients.

OBJETIVO: Examinar la relación entre los niveles de ansiedad pre-operatoria de los pacientes que se someterán a una cirugía torácica y la alfabetización en salud electrónica, como encontrar y evaluar información de salud electrónica sobre problemas de salud. MÉTODOS: Estudio descriptivo y relacional. Para recopilar datos se utilizaron la Escala de Ansiedad e Información Pre-operatoria de Amsterdam (APAIS), la Escala de Ansiedad Analógica Visual (EVA-A) y la Escala de Alfabetización en E-salud, y un formulario de información descriptiva del paciente. RESULTADOS: Según la EVA-A, los niveles de ansiedad de los pacientes fueron de 6.02 ± 2.51. La puntuación APAIS fue de 18.73 ± 5.85. La puntuación de la escala de alfabetización en salud electrónica de los pacientes fue de 24.84 ± 9.21. No hubo una relación significativa entre los niveles de ansiedad de los pacientes y su alfabetización en salud electrónica. Se encontró una diferencia significativa entre los niveles de alfabetización en salud electrónica de los pacientes según su edad y el motive de la cirugía. CONCLUSIONES: Los pacientes que serán sometidos a cirugía torácica experimentan ansiedad moderada y se determinó que necesitan información moderada. También se descubrió que los pacientes tenían niveles moderados de conocimientos sobre cibersalud. No hubo una relación significativa entre la ansiedad y los niveles de alfabetización en salud electrónica de los pacientes.

Assuntos

RESUMO

OBJECTIVE: We aimed to compare the etiology and perinatal outcomes of non-immune hydrops fetalis diagnosed early- and late-onset at our hospital. METHODS: The records of the patients who applied to our department were reviewed, and we reached 42 non-immune hydrops fetalis cases retrospectively and examined the medical records. Hydrops diagnosis week, birth week, accompanying anomalies, and perinatal outcomes were compared as ≤12 weeks (early-onset) and >12 weeks (late-onset). RESULTS: The prevalence of non-immune hydrops fetalis was 0.05%, and the median week of diagnosis for hydrops was 18 weeks. Consanguinity (16.7%) was found in seven pregnancies, and the other seven patients (16.7%) had a history of hydrops in previous pregnancies. Anomalies of the skeletal system, central nervous system, and gastrointestinal tract accounted for 66.7% of ≤12 weeks in non-immune hydrops fetalis cases. Cardiac abnormalities were more common (26.7%) in patients at > 12 weeks (p=0.078). A statistically significant difference was found between the distribution of week of birth and week of diagnosis (p=0.029). Notably, 66.7% of patients diagnosed before week 12 and 23.3% of patients diagnosed after week 12 delivered their babies before week 24. Spontaneous intrauterine death occurred before week 12 in 45.5% (n=5) of non-immune hydrops fetalis and after week 12 in 39.1% (n=9) of non-immune hydrops fetalis. Notably, 69.2% (n=9) of the patients who had prenatal invasive testing resulted in normal karyotype. CONCLUSION: In this study, most of the fetuses diagnosed with early-onset non-immune hydrops fetalis were born in the first 24 weeks. Additionally, live birth rates and cardiac anomalies were observed to be higher in late-onset non-immune hydrops fetalis.

Assuntos

RESUMO

OBJECTIVE: The aim of this study was to investigate the relationship between Chitinase 3-Like 1 gene polymorphisms and the occurrence of preeclampsia in a selected cohort of pregnant women. METHODS: A total of 75 pregnant women participated in the study, 35 of whom were diagnosed with preeclampsia, while 40 served as healthy controls. The preeclamptic group was subdivided based on severity. Real-time polymerase chain reaction was employed to analyze the serum samples for variations in Chitinase 3-Like 1 gene polymorphisms. RESULTS: The rs880633 polymorphism was found to be significantly more frequent in the control group (80%) compared with the overall preeclamptic group (60%) (p<0.05). In the severity-based subgroups, rs880633 appeared in 57.1% of non-severe and 61.9% of severe preeclamptics. Contrarily, the heterozygous form of rs7515776 polymorphism showed a significantly higher prevalence in the preeclamptic cohort (p<0.05), without distinctions in severity subgroups. CONCLUSION: The study suggests that the rs880633 polymorphism may serve a protective role against the development of preeclampsia, whereas the rs7515776 polymorphism may be associated with an elevated risk. Further research is warranted to elucidate the clinical implications of these findings.

Assuntos

RESUMO

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.

Assuntos

RESUMO

OBJECTIVE: The objective of the study is to compare the optic coherence tomography (OCT) parameters of the healthy and affected sides of patients with idiopathic sudden sensorineural hearing loss (ISSNHL) and to investigate the relationships between these and the improvement in hearing levels. METHODS: A bilateral eye evaluation of patients diagnosed with ISSNHL was performed with OCT. The ganglion cell complex (GCC) and retina nerve fiber layer (RNFL) thickness values were recorded and the differences between the two eyes were examined. RESULTS: An evaluation was made of 39 patients with a mean age of 44.82 ± 14.90 years. The RNFL thickness of the eyes was determined to be mean 89.87 ± 3.65 µm on the affected side and 103.87 ± 3.98 µm on the healthy control side (p = 0.0001). The mean GCC was determined to be mean 90.46 ± 3.49 µm on the affected side and 103.77 ± 3.96 µm on the healthy control side (p = 0.0001). CONCLUSIONS: A statistically significant difference was observed between the healthy and affected eyes of patients with ISSNHL with respect to mean GCC and mean RNFL thickness. OCT could be a useful technique for measuring this neural degeneration.

OBJETIVO: Comparar e investigar los parámetros de la tomografía de coherencia óptica (OCT) de los lados sanos y afectados de pacientes con pérdida auditiva neurosensorial súbita idiopática (PANSI). MÉTODO: La evaluación ocular bilateral de los pacientes diagnosticados con PANSI se realizó con OCT. Se registraron los valores de espesor del complejo de células ganglionares (CCG) y de la capa de fibras nerviosas de la retina (CFNR), y se examinaron las diferencias entre los dos ojos. RESULTADOS: Se evaluaron 39 pacientes, con una edad media de 44.82 ± 14.90 años. Se determinó que el grosor de la CFNR de los ojos era una media de 89.87 ± 3.65 µm en el lado afectado y 103.87 ± 3.98 µm en el lado de control sano (p = 0.0001). Se determinó que el CCG medio era 90.46 ± 3.49 µm en el lado afectado y 103.77 ± 3.96 µm en el lado de control sano (p = 0.0001). CONCLUSIONES: Se encontró una diferencia estadísticamente significativa entre los ojos sanos y afectados de pacientes con PANSI con respecto al CCG medio y al espesor medio de la CFNR. La OCT podría ser una técnica útil para medir esta degeneración neuronal.

Assuntos

RESUMO

OBJECTIVE: the objective of this study is to examine the relationships between sleep, quality of life and anxiety in patients undergoing cardiac surgeries during the preoperative period, at discharge, two weeks after discharge and three months after discharge. METHOD: this study had a prospective, descriptive and correlational design and was conducted in a single center. The sample consisted of 68 patients who had undergone cardiac surgeries. The data were collected using an Information Form, the State-Trait Anxiety Inventory, the Richard-Campbell Sleep Questionnaire and the Nottingham Health Profile. RESULTS: the patients' sleep quality increased from moderate to good at each measurement moment after the surgeries, when compared to sleep quality measured at their first hospitalization. While the state anxiety scores decreased at discharge and 2 weeks after the initial hospitalization, they increased to a moderate level 3 months after discharge. There was no significant relationship between anxiety levels and sleep quality at any measurement moment. Additionally, the patients' quality of life was significantly improved 2 weeks and 3 months after discharge. CONCLUSION: The results of this study showed that the sleep quality of patients who had undergone cardiac surgeries was improved during the postoperative period, and that this improvement exerted a positive effect on their quality of life.

Assuntos

RESUMO

Objective This study aimed to determine the clinical outcomes and risk factors affecting mortality in patients with COVID-19 following hematological malignancy (HM). Methods Patients diagnosed with HM and hospitalized for COVID-19 were included in this retrospective study. The age, demographic and clinical characteristics, prognosis and treatment of surviving and non-surviving patients were compared. Results A total of 49 patients were included in this study, 17 (34.6%) of whom died within 28 days of being diagnosed with COVID-19. Older age (p = 0.001), diabetes (p = 0.001), chronic obstructive pulmonary disease (p = 0.002), secondary infection (p < 0.001) and secondary bacterial infection (p = 0.005) were statistically significantly higher in non-survivors. The remission status of HM was higher in surviving patients (p < 0.001). In multivariate regression analysis, age (OR: 1.102, p = 0.035) and secondary infection (OR: 16.677, p = 0.024) were risk factors increasing mortality, the remission status of HM (OR: 0.093, p = 0.047) was a protective factor from mortality. Conclusion The older age, the remission status of HM and secondary infection due to COVID-19 were determined as prognostic factors predicting mortality in HM patients with following COVID-19.

Assuntos

RESUMO

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.

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.

Assuntos

RESUMO

Abstract Dental fillings, frequently used in dentistry to address various dental tissue issues, may pose problems when not aligned with the anatomical contours and physiology of dental and periodontal tissues. Our study aims to detect the prevalence and distribution of normal and overhanging filling restorations using a deep CNN architecture trained through supervised learning, on panoramic radiography images. A total of 10480 fillings and 2491 overhanging fillings were labeled using CranioCatch software from 2473 and 1850 images, respectively. After the data obtaining phase, validation (80%), training 10%), and test-groups (10%) were formed from images for both labelling. The YOLOv5x architecture was used to develop the AI model. The model's performance was assessed through a confusion matrix and sensitivity, precision, and F1 score values of the model were calculated. For filling, sensitivity is 0.95, precision is 0.97, and F1 score is 0.96; for overhanging were determined to be 0.86, 0.89, and 0.87, respectively. The results demonstrate the capacity of the YOLOv5 algorithm to segment dental radiographs efficiently and accurately and demonstrate proficiency in detecting and distinguishing between normal and overhanging filling restorations.

RESUMO

Objective: the objective of this study is to examine the relationships between sleep, quality of life and anxiety in patients undergoing cardiac surgeries during the preoperative period, at discharge, two weeks after discharge and three months after discharge. Method: this study had a prospective, descriptive and correlational design and was conducted in a single center. The sample consisted of 68 patients who had undergone cardiac surgeries. The data were collected using an Information Form, the State-Trait Anxiety Inventory, the Richard-Campbell Sleep Questionnaire and the Nottingham Health Profile. Results: the patients' sleep quality increased from moderate to good at each measurement moment after the surgeries, when compared to sleep quality measured at their first hospitalization. While the state anxiety scores decreased at discharge and 2 weeks after the initial hospitalization, they increased to a moderate level 3 months after discharge. There was no significant relationship between anxiety levels and sleep quality at any measurement moment. Additionally, the patients' quality of life was significantly improved 2 weeks and 3 months after discharge. Conclusion: The results of this study showed that the sleep quality of patients who had undergone cardiac surgeries was improved during the postoperative period, and that this improvement exerted a positive effect on their quality of life.

Objetivo: el objetivo de este estudio es examinar las relaciones entre el sueño, la calidad de vida y la ansiedad en pacientes sometidos a cirugías cardíacas durante el período preoperatorio, al momento del alta hospitalaria, y dos semanas y tres meses después del alta. Método: este estudio tuvo un diseño prospectivo, descriptivo y correlacional y se realizó en un único centro. La muestra estuvo compuesta por 68 pacientes que habían sido sometidos a cirugías cardíacas. Los datos se recolectaron por medio de un Formulario de Información y a través de los siguientes instrumentos: State-Trait Anxiety Inventory , Richard-Campbell Sleep Questionnaire y Nottingham Health Profile . Resultados: la calidad del sueño de los pacientes mejoró de moderada a buena en cada medición después de las cirugías, en comparación con la evaluada al momento de la primera internación. Si bien las puntuaciones de ansiedad rasgo disminuyeron al momento del alta hospitalaria y 2 semanas después de la internación inicial, aumentaron al nivel moderado 3 meses después del alta. No se registró ninguna relación significativa entre niveles de ansiedad y calidad del sueño en ninguna de las mediciones. Además, la calidad de vida de los pacientes mejoró significativamente 2 semanas y 3 meses después del alta hospitalaria. Conclusión: los resultados de este estudio demostraron que la calidad de sueño de los pacientes sometidos a cirugías cardíacas mejoró durante el período postoperatorio, además de que esta mejora ejerció un efecto positivo sobre su calidad de vida.

Objetivo: o objetivo deste estudo é examinar as relações entre sono, qualidade de vida e ansiedade em pacientes sujeitos a cirurgias cardíacas durante o período pré-operatório, na alta, duas semanas após a alta e três meses após a alta. Método: este estudo teve um projeto prospectivo, descritivo e correlacional e foi realizado em um único centro. A amostra foi composta por 68 pacientes sujeitos a cirurgias cardíacas. Os dados foram coletados por meio de um Formulário de Informações, do State-Trait Anxiety Inventory , do Richard-Campbell Sleep Questionnaire e do Nottingham Health Profile . Resultados: a qualidade de sono dos pacientes aumentou de moderada para boa em cada momento de medição após as cirurgias, quando comparada à qualidade de sono medida em sua primeira internação. Embora a pontuação de ansiedade-estado tenha diminuído na alta e duas semanas após a internação inicial, ela aumentou para um nível moderado três meses após a alta. Não houve relação significativa entre os níveis de ansiedade e a qualidade do sono em nenhum momento de medição. Além disso, a qualidade de vida dos pacientes melhorou significativamente duas semanas e três meses após a alta. Conclusão: os resultados desse estudo mostraram que a qualidade de sono dos pacientes sujeitos a cirurgias cardíacas melhorou durante o período pós-operatório, e que essa melhora exerceu um efeito positivo em sua qualidade de vida.

Assuntos

RESUMO

ABSTRACT Purposes: The purpose of this study is to compare the standard inner limiting membrane peeling technique to the inner limiting membrane abrasion technique with respect to visual outcomes and central retinal thickness in the primary epiretinal membrane surgery. Methods: A total of 59 eyes from 57 epiretinal membrane patients were separated into two groups including the standard inner limiting membrane peeling group and the inner limiting membrane peeling with abrasion technique group. At 6, 12, and 24 months of follow-up, the mean alteration in best-corrected visual acuity and central retinal thickness were assessed for each group. Results: The study includes 32 (54%) standard inner peeling and 27 (46%) inner limiting membrane peeling with abrasion technique patients. The mean preoperative logMAR best-corrected visual acuity for the standard inner limiting membrane peeling and inner limiting membrane peeling with abrasion groups was 0.73 (±0.29) and 0.61 (±0.3) respectively. At 6, 12, and 24 months of follow-up, the best-corrected visual acuity improved significantly in each group. At each period of observation, the alteration in best-corrected visual acuity was not statistically significant (p=0.54, p=0.52, p=0.67). When comparing the alterations between the standard inner limiting membrane peeling and inner limiting membrane peeling with abrasion technique groups at 6 months (p=0.26) and 24 months (p=0.06), no statistically significant differences were observed, but they were statistically different at 12 months (p=0.03), reflecting a greater reduction in central retinal thickness for the inner limiting membrane peeling with abrasion technique group after one year. Conclusion: Abrasion of the inner limiting membrane with a diamond-dusted membrane scraper during epiretinal membrane surgery demonstrates similar effectiveness to the standard inner limiting membrane peeling technique. At 12 months, retinal thinning was found to be more significant in inner limiting membrane peeling with abrasion technique patients in terms of central retinal thickness values. As a result, it may be argued that the inner limiting membrane abrasion technique eliminates the inner limiting membrane and related structures more effectively while inflicting less retinal damage.

RESUMO Objetivo: Este estudo tem como objetivo comparar a técnica padrão de peeling da membrana limitadora interna com a técnica de abrasão da membrana limitadora interna com relação aos resultados visuais e à espessura central da retina na cirurgia primária de membrana epirretiniana. Métodos: Cinquenta e nove olhos de 57 pacientes com membrana epirretiniana foram divididos em dois grupos, incluindo o grupo de remoção padrão da membrana limitante interna e o grupo de remoção da membrana limitante interna com técnica de abrasão. A alteração média da melhor acuidade visual corrigida e da espessura central da retina foram medidas para cada grupo aos 6, 12 e 24 meses de acompanhamento. Resultados: O estudo incluiu 32 (54%) de padrão de membrana limitante e 27 (46%) de membrana interna com técnica de abrasão. A média de logMar pré-operatório de melhor acuidade visual corrigida foi de 0,73 (±0,29) e 0,61 (±0,3) para os grupos de remoção padrão da membrana limitante interna e de remoção da membrana limitante interna com técnica de abrasão, respectivamente. A melhor acuidade visual corrigida melhorou significativamente em cada grupo aos 6, 12 e 24 meses de acompanhamento. A alteração na melhor acuidade visual corrigida não foi estatisticamente significante (p=0,54, p=0,52, p=0,67) em cada período de observação. Quanto à espessura central da retina, diferenças estatisticamente significativas não foram observadas aos 6 meses (p=0,26) e 24 meses (p=0,06), mas foram estatisticamente diferentes aos 12 meses (p=0,03) quando comparadas às alterações entre os grupos de remoção padrão da membrana limitante interna e de remoção da membrana limitante interna com técnica de abrasão, refletindo uma maior redução da espessura central da retina para o grupo de remoção da membrana limitante interna com técnica de abrasão após um ano. Conclusão: A abrasão da membrana limitante interna com um raspador de membrana com pó de diamante em cirurgia de membrana epirretiniana demonstra eficácia semelhante com a técnica de remoção padrão de membrana limitante interna. Em relação aos valores de espessura central da retina, o afinamento da retina foi mais significativo em pacientes com remoção da membrana limitante interna com técnica de abrasão aos 12 meses. Assim, pode-se argumentar que a técnica de abrasão da membrana limitante interna remove a membrana limitante interna e as estruturas relacionadas de forma mais eficaz sem causar danos significativos à retina.

RESUMO

ABSTRACT Objective To evaluate the complementary feeding practices of mothers in infant and child nutrition using Infant and Young Child Feeding Indicator and Infant and Child Feeding Index and to determine their relationship with nutritional status. Methods Study data were collected through an online questionnaire administered to 141 parents on healthy 6-24 month infants/children. Complementary feeding practices for infants/children were evaluated in line with the Infant and Child Feeding Index and Infant and Young Child Feeding Indicator. In the evaluation of growth, weight for age z-scores, length for age z-scores, and weight for length z-scores of infants/children were calculated with the World Health Organization Anthro program. Results 74.5% of 141 infants and children (71 boys, 70 girls) evaluated in the study are breastfed. The prevalence of stunting, wasted, and underweight was determined as 6.4%, 0.7%, and 4.3%, respectively. When evaluated using Infant and Young Child Feeding Indicator, it was determined that 82.3% of children met the minimum meal frequency, 80.9% met the minimum dietary diversity, and 67.4% met the minimum acceptable diet. Regarding Infant and Child Feeding Index evaluations of the children, while there was no difference between 9-11 and 12-24 month age groups, the mean Infant and Child Feeding Index score in the 6-8 month group was significantly lower than the other age groups (p=0.000). The Infant and Child Feeding Index scores used to evaluate complementary feeding practices in our study were found to be high in most infants/children. No clear relationship was found between stunting and minimum acceptable diet, minimum dietary diversity or minimum meal frequency, which are indicators of both Infant and Child Feeding Index scores and World Health Organization, Infant and Young Child Feeding Indicator. Conclusion The Infant and Child Feeding Index scores used to evaluate complementary feeding practices in our study were high in most infants/children. In addition, the high rates of MMF, minimum dietary diversity, and minimum acceptable diet coverage in evaluating infants/children in terms of World Health Organization indicators show that they have appropriate complementary feeding practices. However, study found no clear relationship between stunting and minimum acceptable diet, minimum dietary diversity or MMF, which are indicators of both Infant and Child Feeding Index I scores and WHO Infant and Young Child Feeding Indicator. It was concluded that World Health Organization Infant and Young Child Feeding Indicator indicators may be better than length for age z-scores in the weight for length z-scores explanation.

RESUMO Objetivo Avaliar as práticas de alimentação complementar das mães na nutrição de lactentes e crianças utilizando o Indicador de Alimentação de Lactentes e Crianças Pequenas e o Índice de Alimentação de Lactentes e Crianças e determinar sua relação com o estado nutricional. Métodos Os dados do estudo foram coletados por meio de um questionário online administrado a 141 pais de bebês/crianças saudáveis de 6 a 24 meses. As práticas de alimentação complementar de lactentes/crianças foram avaliadas de acordo com o Índice de Alimentação de Lactentes e Crianças e o Indicador de Alimentação de Lactentes e Crianças Pequenas. Na avaliação do crescimento, os escores z de peso para idade, escores z de comprimento para idade e escores z de peso para comprimento de bebês/crianças foram calculados com o programa Organização Mundial da Saúde Anthro. Resultados Quando avaliadas por meio do Indicador de Alimentação de Lactentes e Crianças Pequenas, constatou-se que 82,3% das crianças atendiam à frequência mínima de refeições, 80,9% atingiam a diversidade alimentar mínima e 67,4% atingiam a dieta mínima aceitável. Em relação às avaliações do Índice de Alimentação de Lactentes e Crianças das crianças, embora não tenha havido diferença entre as faixas etárias de 9 a 11 e 12 a 24 meses, a pontuação média do Índice de Alimentação de Lactentes e Crianças no grupo de 6 a 8 meses foi significativamente menor do que nas outras faixas etárias (p=0,000). Os escores do Índice de Alimentação de Lactentes e Crianças utilizados para avaliar as práticas de alimentação complementar em nosso estudo foram elevados na maioria dos bebês/crianças. Não foi encontrada nenhuma relação clara entre o atraso no crescimento e a dieta mínima aceitável, diversidade alimentar mínima ou frequência mínima de refeição ,que são indicadores tanto das pontuações do Índice de Alimentação de Lactentes e Crianças como do Indicador de Alimentação de Lactentes e Crianças Pequenas da Organização Mundial da Saúde. Conclusão Escores altos do Índice de Alimentação de Lactentes e Crianças na maioria dos bebês/crianças são um bom indicador de Indicador de Alimentação de Lactentes e Crianças Pequenas nessa população. No entanto, nenhuma relação clara foi encontrada entre o déficit de estatura e os escores do Índice de Alimentação de Lactentes e Crianças e do Indicador de Alimentação de Lactentes e Crianças Pequenas neste estudo.

Assuntos

RESUMO

SUMMARY OBJECTIVE: The primary objective was to assess the diagnostic accuracy of a deep learning-based artificial intelligence model for the detection of acute appendicular fractures in pediatric patients presenting with a recent history of trauma to the emergency department. The secondary goal was to examine the effect of assistive support on the emergency doctor's ability to detect fractures. METHODS: The dataset was 5,150 radiographs of which 850 showed fractures, while 4,300 radiographs did not show any fractures. The process utilized 4,532 (88%) radiographs, inclusive of both fractured and non-fractured radiographs, in the training phase. Subsequently, 412 (8%) radiographs were appraised during validation, and 206 (4%) were set apart for the testing phase. With and without artificial intelligence assistance, the emergency doctor reviewed another set of 2,000 radiographs (400 fractures and 600 non-fractures each) for labeling in the second test. RESULTS: The artificial intelligence model showed a mean average precision 50 of 89%, a specificity of 92%, a sensitivity of 90%, and an F1 score of 90%. The confusion matrix revealed that the model trained with artificial intelligence achieved accuracies of 93 and 95% in detecting fractures, respectively. Artificial intelligence assistance improved the reading sensitivity from 93.7% (without assistance) to 97.0% (with assistance) and the reading accuracy from 88% (without assistance) to 94.9% (with assistance). CONCLUSION: A deep learning-based artificial intelligence model has proven to be highly effective in detecting fractures in pediatric patients, enhancing the diagnostic capabilities of emergency doctors through assistive support.

RESUMO

SUMMARY OBJECTIVE: The aim of this study was to investigate the relationship between Chitinase 3-Like 1 gene polymorphisms and the occurrence of preeclampsia in a selected cohort of pregnant women. METHODS: A total of 75 pregnant women participated in the study, 35 of whom were diagnosed with preeclampsia, while 40 served as healthy controls. The preeclamptic group was subdivided based on severity. Real-time polymerase chain reaction was employed to analyze the serum samples for variations in Chitinase 3-Like 1 gene polymorphisms. RESULTS: The rs880633 polymorphism was found to be significantly more frequent in the control group (80%) compared with the overall preeclamptic group (60%) (p<0.05). In the severity-based subgroups, rs880633 appeared in 57.1% of non-severe and 61.9% of severe preeclamptics. Contrarily, the heterozygous form of rs7515776 polymorphism showed a significantly higher prevalence in the preeclamptic cohort (p<0.05), without distinctions in severity subgroups. CONCLUSION: The study suggests that the rs880633 polymorphism may serve a protective role against the development of preeclampsia, whereas the rs7515776 polymorphism may be associated with an elevated risk. Further research is warranted to elucidate the clinical implications of these findings.

RESUMO

SUMMARY OBJECTIVE: We aimed to compare the etiology and perinatal outcomes of non-immune hydrops fetalis diagnosed early- and late-onset at our hospital. METHODS: The records of the patients who applied to our department were reviewed, and we reached 42 non-immune hydrops fetalis cases retrospectively and examined the medical records. Hydrops diagnosis week, birth week, accompanying anomalies, and perinatal outcomes were compared as ≤12 weeks (early-onset) and >12 weeks (late-onset). RESULTS: The prevalence of non-immune hydrops fetalis was 0.05%, and the median week of diagnosis for hydrops was 18 weeks. Consanguinity (16.7%) was found in seven pregnancies, and the other seven patients (16.7%) had a history of hydrops in previous pregnancies. Anomalies of the skeletal system, central nervous system, and gastrointestinal tract accounted for 66.7% of ≤12 weeks in non-immune hydrops fetalis cases. Cardiac abnormalities were more common (26.7%) in patients at > 12 weeks (p=0.078). A statistically significant difference was found between the distribution of week of birth and week of diagnosis (p=0.029). Notably, 66.7% of patients diagnosed before week 12 and 23.3% of patients diagnosed after week 12 delivered their babies before week 24. Spontaneous intrauterine death occurred before week 12 in 45.5% (n=5) of non-immune hydrops fetalis and after week 12 in 39.1% (n=9) of non-immune hydrops fetalis. Notably, 69.2% (n=9) of the patients who had prenatal invasive testing resulted in normal karyotype. CONCLUSION: In this study, most of the fetuses diagnosed with early-onset non-immune hydrops fetalis were born in the first 24 weeks. Additionally, live birth rates and cardiac anomalies were observed to be higher in late-onset non-immune hydrops fetalis.

RESUMO

Ligula intestinalis is a cestode parasite that affects freshwater fish in different countries of the world. The current study aims to reveal the phylogenetic, genetic and haplotype diversity of mt-CO1 gene sequences sent to the NCBI database from different countries by using in-silico analysis. The 105 mt-CO1 (371 bp) gene sequences of L. intestinalis obtained from NCBI were used for bioinformatics analyses. Sequences were subjected to phylogenetic and haplotype analysis. As a result of the haplotype analysis of L. intestinalis, 38 haplotypes were obtained from 13 different countries. Hap24 constituted 44.76% of the obtained haplotype network. Changes in nucleotides between haplotypes occurred at 1-84 different points. China and Turkey have highest fixation index (Fst) values of 0.59761, while the lowest (-0.10526) was found between Russia and Turkey. This study provides a baseline for future studies on extensive scale on the epidemiology, ecological aspects, distribution pattern, transmission dynamics and population dispersion of L. intestinalis worldwide.

Ligula intestinalis é um parasita cestódeo que acomete peixes de água doce em diversos países do mundo. O presente estudo visa revelar a diversidade filogenética, genética e de haplótipos das sequências do gene mt-CO1 enviadas ao banco de dados do NCBI de diferentes países, por meio de análise in-silico. As sequências gênicas de 105 mt-CO1 (371 pb) de L. intestinalis obtidas do NCBI foram utilizadas para análises bioinformáticas. As sequências foram submetidas a análise filogenética e de haplótipos. Como resultado da análise de haplótipos de L. intestinalis, 38 haplótipos foram obtidos de 13 países diferentes. Hap24 constituiu 44,76% da rede de haplótipos obtida. Mudanças nos nucleotídeos entre os haplótipos ocorreram em 1-84 pontos diferentes. A China e a Turquia apresentam os maiores valores do índice de fixação (Fst), 0,59761, enquanto o menor (-0,10526) foi encontrado entre a Rússia e a Turquia. Este estudo fornece uma linha de base para futuros estudos em larga escala sobre epidemiologia, aspectos ecológicos, padrão de distribuição, dinâmica de transmissão e dispersão populacional de L. intestinalis em todo o mundo.

Assuntos

RESUMO

Mucopolysaccharidosis (MPS) IVA is a lysosomal storage disorder caused by mutations in the GALNS gene that leads to the lysosomal accumulation of keratan sulfate (KS) and chondroitin 6-sulfate, causing skeletal dysplasia and cardiopulmonary complications. Current enzyme replacement therapy does not impact the bone manifestation of the disease, supporting that new therapeutic alternatives are required. We previously demonstrated the suitability of the CRISPR-nCas9 system to rescue the phenotype of human MPS IVA fibroblasts using iron oxide nanoparticles (IONPs) as non-viral vectors. Here, we have extended this strategy to an MPS IVA mouse model by inserting the human GALNS cDNA into the ROSA26 locus. The results showed increased GALNS activity, mono-KS reduction, partial recovery of the bone pathology, and non-IONPs-related toxicity or antibody-mediated immune response activation. This study provides, for the first time, in vivo evidence of the potential of a CRISPR-nCas9-based gene therapy strategy for treating MPS IVA using non-viral vectors as carriers.

RESUMO

OBJECTIVE: Multiple sclerosis is an autoimmune disease that commonly affects the cervical part of the spinal cord. The aim of this study was to evaluate the relationship between cervical spinal cord atrophy and clinical disability in multiple sclerosis patients. METHODS: We examined the cervical spinal cord area measurements of 64 multiple sclerosis patients and 64 healthy control groups over the images obtained by a T2-weighted magnetic resonance imaging device. RESULTS: The C2-3, C3-4, C4-5, and C6-7 axial cross-sectional surface area values of the patient group were statistically lower than those of the control group (p<0.05). A negative correlation was found between patients' Expanded Disability Status Scale scores and C4-5, C5-6, and C6-7 axial area (axial area p<0.05; r1=-0.472, r2=-0.513, and r3=-0.415). CONCLUSION: When all parameters were evaluated, the data of our control group were found to be higher than the multiple sclerosis groups. There appears to be a significant relationship between patients with cervical spinal cord atrophy and an increase in Expanded Disability Status Scale scores.

Assuntos