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Background: Quantification of change is crucial for correctly estimating the effect of a treatment and for distinguishing random or non-systematic changes from substantive changes. The objective of the present study was to learn about the performance of two distribution-based methods [the Jacobson-Truax Reliable Change Index (RCI) and the Hageman-Arrindell (HA) approach] that were designed for evaluating individual reliable change. Methods: A pre-post design was simulated with the purpose to evaluate the false positive and false negative rates of RCI and HA methods. In this design, a first measurement is obtained before treatment and a second measurement is obtained after treatment, in the same group of subjects. Results: In relation to the rate of false positives, only the HA statistic provided acceptable results. Regarding the rate of false negatives, both statistics offered similar results, and both could claim to offer acceptable rates when Ferguson's stringent criteria were used to define effect sizes as opposed to when the conventional criteria advanced by Cohen were employed. Conclusion: Since the HA statistic appeared to be a better option than the RCI statistic, we have developed and presented an Excel macro so that the greater complexity of calculating HA would not represent an obstacle for the non-expert user.

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Abstract Objective: To present signs and symptoms and clinical course in cystic fibrosis patients with false-negative newborn screening (CF NBS). Materials and methods: All children presented in this paper were covered by CF NBS. The group of 1.869.246 newborns was screened in the Institute of Mother and Child in Warsaw within a period of 01.01.1999 - 31.05.2019. Screening protocols evolved over time from IRT/IRTto IRT/DNA/EGA. Results: The authors identified 11 patients with false-negative NBS, in whom CF was diagnosed based on clinical symptoms or the examination of siblings with positive CF NBS. In the study group, the diagnosis was made significantly later in comparison to positive CF NBS patients ranging from 2 months to 15 years of age. CF NBS strategy does not significantly affect the sensitivity of the screening. Conclusion: In the presence of clinical symptoms, additional diagnostics must be implemented, in spite of the negative screening results. At first, the sweat test should be conducted, followed by a DNA analysis of the most common mutations in the given population. The diagnostic process requires searching for CFTR mutations not typically associated with a high chloride concentration in sweat. Repetition of sweat chloride concentration enables the diagnosis in children whose initial chloride values in sweat are borderline, and no CF-causing mutations are detected. In strong clinical indications, the extension of DNA analysis (EGA) is recommended in order to identify rare CF variants. In children with meconium ileus, genetic analysis is mandatory.

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PURPOSE: This study aims to determine if the presence of specific clinical and computed tomography (CT) patterns are associated with epidermal growth factor receptor (EGFR) mutation in patients with non-small cell lung cancer. METHODS: A systematic literature review and meta-analysis was carried out in 6 databases between January 2002 and July 2021. The relationship between clinical and CT patterns to detect EGFR mutation was measured and pooled using odds ratios (OR). These results were used to build several mathematical models to predict EGFR mutation. RESULTS: 34 retrospective diagnostic accuracy studies met the inclusion and exclusion criteria. The results showed that ground-glass opacities (GGO) have an OR of 1.86 (95%CI 1.34 -2.57), air bronchogram OR 1.60 (95%CI 1.38 - 1.85), vascular convergence OR 1.39 (95%CI 1.12 - 1.74), pleural retraction OR 1.99 (95%CI 1.72 - 2.31), spiculation OR 1.42 (95%CI 1.19 - 1.70), cavitation OR 0.70 (95%CI 0.57 - 0.86), early disease stage OR 1.58 (95%CI 1.14 - 2.18), non-smoker status OR 2.79 (95%CI 2.34 - 3.31), female gender OR 2.33 (95%CI 1.97 - 2.75). A mathematical model was built, including all clinical and CT patterns assessed, showing an area under the curve (AUC) of 0.81. CONCLUSIONS: GGO, air bronchogram, vascular convergence, pleural retraction, spiculated margins, early disease stage, female gender, and non-smoking status are significant risk factors for EGFR mutation. At the same time, cavitation is a protective factor for EGFR mutation. The mathematical model built acts as a good predictor for EGFR mutation in patients with lung adenocarcinoma.

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OBJECTIVE: To present signs and symptoms and clinical course in cystic fibrosis patients with false-negative newborn screening (CF NBS). MATERIALS AND METHODS: All children presented in this paper were covered by CF NBS. The group of 1.869.246 newborns was screened in the Institute of Mother and Child in Warsaw within a period of 01.01.1999 - 31.05.2019. Screening protocols evolved over time from IRT/IRT to IRT/DNA/EGA. RESULTS: The authors identified 11 patients with false-negative NBS, in whom CF was diagnosed based on clinical symptoms or the examination of siblings with positive CF NBS. In the study group, the diagnosis was made significantly later in comparison to positive CF NBS patients ranging from 2 months to 15 years of age. CF NBS strategy does not significantly affect the sensitivity of the screening. CONCLUSION: In the presence of clinical symptoms, additional diagnostics must be implemented, in spite of the negative screening results. At first, the sweat test should be conducted, followed by a DNA analysis of the most common mutations in the given population. The diagnostic process requires searching for CFTR mutations not typically associated with a high chloride concentration in sweat. Repetition of sweat chloride concentration enables the diagnosis in children whose initial chloride values in sweat are borderline, and no CF-causing mutations are detected. In strong clinical indications, the extension of DNA analysis (EGA) is recommended in order to identify rare CF variants. In children with meconium ileus, genetic analysis is mandatory.

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BACKGROUND: Cervical cancer progresses slowly, increasing the chance of early detection of pre-neoplastic lesions via Pap exam test and subsequently preventing deaths. However, the exam presents both false-negatives and false-positives results. Therefore, automatic methods (AMs) of reading the Pap test have been used to improve the quality control of the exam. We performed a literature review to evaluate the feasibility of implementing AMs in laboratories. METHODS: This work reviewed scientific publications regarding automated cytology from the last 15 years. The terms used were "Papanicolaou test" and "Automated cytology screening" in Portuguese, English, and Spanish, in the three scientific databases (SCIELO, PUBMED, MEDLINE). RESULTS: Of the resulting 787 articles, 34 were selected for a complete review, including three AMs: ThinPrep Imaging System, FocalPoint GS Imaging System and CytoProcessor. In total, 1 317 148 cytopathological slides were evaluated automatically, with 1 308 028 (99.3%) liquid-based cytology slides and 9120 (0.7%) conventional cytology smears. The AM diagnostic performances were statistically equal to or better than those of the manual method. AM use increased the detection of cellular abnormalities and reduced false-negatives. The average sample rejection rate was ≤3.5%. CONCLUSION: AMs are relevant in quality control during the analytical phase of cervical cancer screening. This technology eliminates slide-handling steps and reduces the sample space, allowing professionals to focus on diagnostic interpretation while maintaining high-level care, which can reduce false-negatives. Further studies with conventional cytology are needed. The use of AM is still not so widespread in cytopathology laboratories.

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Resumen:El carcinoma de mama representó el tumor en mujeres más frecuente en Costa Rica para el año 2013. La disección axilar en el cáncer de mama es una de las causas de mayor comorbilidad en las pacientes. La realización de un ganglio centinela para determinar si es necesario la disección axilar, ha resultado de gran ayuda, reduciendo las comorbilidades en las pacientes con cáncer de mama. La experiencia del cirujano en la realización de procedimiento y del patólogo, han reducido los falsos negativos en los ganglios centinelas por congelación hasta en un 4.5%.En este estudio se analizaron los ganglios centinelas por congelación que contaban con biopsia definitiva y se determinó que los falsos negativos para nuestro hospital eran del 1.2%, además en estos casos, se determinó la media de tipo histológico, el grado histológico y el tamaño del cáncer de mama. En conclusión, se determinó que una de las casusas principales asociadas a los falsos negativos es la presencia de tejido adiposo en el ganglio centinela.

AbstractBreast carcinoma represented de most frequent tumor in Costa Rica during 2013. The axillary dissection in pacients with breast cancer is one of the causes of the most frecuent comorbidity. Studying sentinel ganglion to decide if it is necesary to make an axillary dissection has become very useful in reducing comorbidity in pacients with breast cancer. The surgeon´s and de pathologist´s work experience with this procedure has reduced false positive results in the sentinel ganglion´s biopsies by frezzing method in 4,5%. During the current report the sentinel ganglions by freezing method that had a definite biopsy were studied and we arrived to the conclusion that for our hospital falsepositives were less than 1,2%. As well in this cases it was determined the histologic type, the histologic grade and the size of the breast cancer. In conclusion it was determined that one of the most frecuent causes associated with false positives is the presence of adipose tissue in the sentinel ganglion.

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