Clinical complications in children with false-negative results in cystic fibrosis newborn screening

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.

Resultados falsos negativos transoperatorios en los ganglios centinelas de cáncer de mama, asociación con las características histológicas del tumor en el Departamento de Patología del Hospital México / Intraoperative false negative results in sentinel nodes of breast cancer, association with the histological characteristics of the tumor in the Department of Pathology of Hospital México

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.

Clinical Experience and Sensitivity of the AutoPap 300 QC System in Cervicovaginal Cytology / 대한세포병리학회지

OBJECTIVE: False negatives of cervical smears due to screening errors pose a significant and persistent problem. AutoPap 300 QC System, an automated screening device, is designed to rescreen conventionally prepared Pap smears initially screened by cytotechnologists as normal. Clinical experience and sensitivity of the AutoPap 300 QC System were assessed and compared with current 10% random quality control technique. MATERIALS AND METHODS: In clinical practice, a total of 18,592 "within normal limits" or "benign cellular changes" cases classified by The Bethesda System were rescreened by the AutoPap System. In study for sensitivity of The AutoPap System to detect false negatives, a total of 1,680 "within normal limits" or "benign cellular changes" cases were rescreened both manually and by the AutoPap System. The sensitivity of the AutoPap System to these false negatives was assessed at 10% review rate to compare 10% random manual rescreen. RESULTS: In clinical practice, 38 false negatives were identified by the AutoPap System and we had achieved 0.2% reduction in the false negative rate of screening error. In study for sensitivity, 37 false negatives were identified by manual rescreening, and 23 cases(62.2%) of the abnormal squamous cytology were detected by the AutoPap System at 10% review rate. CONCLUSONS: The AutoPap 300 QC System is a sensitive automated rescreening device that can detect potential false negatives prior to reporting and can reduce false negative rates in the laboratory. The device is confirmed to be about eight times superior to the 10% random rescreen in detecting false negatives.