Amyloidosis comprises a diverse group of diseases characterized by misfolding of precursor proteins which eventually form amyloid aggregates and preceding intermediaries, which are deposited in target tissues causing progressive organ damage. In all forms of amyloidosis, vital organs may fail; depending on the specific amyloidosis type, this may occur rapidly or progress slowly. Beyond therapies to reduce the precursor protein (chemotherapy for light chain [AL] amyloidosis, anti-inflammatory therapy in serum A amyloid-osis [AA], and antisense RNA therapy in transthyretin amyloidosis [ATTR]), organ transplantation may also be a means to reduce amyloidogenic protein, e.g., in types of amyloid-osis in which the variant precursor is produced by the liver. Heart transplantation is a life-saving approach to the treatment of patients with advanced cardiac amyloidosis; however, amyloidosis may still be considered a contraindication to the procedure despite data supporting improved outcomes, similar to patients with other indications. Kidney transplantation is associated with particularly favorable outcomes in patients with amyloidosis, especially if the precursor protein has been eliminated. Overall, outcomes of solid organ transplantation are improving, but more data are needed to refine the selection criteria and the timing for organ transplantation, which should be performed in highly experienced centers involving multidisciplinary teams with close patient follow-up to detect amyloid recurrence.Balanced chromosomal rearrangements are usually associated with a normal phenotype, although in some individuals, phenotypic alterations are observed. In these patients, molecular characterization of the breakpoints can reveal the pathogenic mechanism, providing the annotation of disease-associated loci and a better genotype-phenotype correlation. In this study, we describe a patient with a balanced reciprocal translocation between 4q27 and 7p22 associated with neurodevelopmental delay. We performed cytogenetic evaluation, next-generation sequencing of microdissected derivative chromosomes, and Sanger sequencing of the junction points to define the translocation’s breakpoints at base pair resolution. We found that the PCDH10 and TNRC18 genes were disrupted by the breakpoints at chromosomes 4 and 7, respectively, with the formation of chimeric genes at the junction points. Anlotinib supplier Gene expression studies in the patient’s peripheral blood showed reduced expression of TNRC18, a gene with unknown function and clinical significance. PCDH10 plays a role in the development of the nervous system and might be involved with the patient’s neurodevelopmental delay. In this study, the full molecular characterization of the junction points was shown as an efficient tool for fine breakpoint mapping in balanced translocations in order to unmask gene disruptions and investigate the potential pathogenic role of the disrupted genes.Objective The aim of this study was to find out whether ThinPrep Integrated Imager (Hologic Inc.) screening is non-inferior to manual screening in the detection of cervical lesion. Study design For a total of 4,011 ThinPrep Pap test specimens stained by ThinPrep staining, manual screening (Manual arm) and ThinPrep Integrated Imager screening (Imager arm) were performed so as not to be screened by the same cytotechnologist, and the sensitivity and specificity in the detection of cervical lesion were compared using McNemar’s test. Results The sensitivity to detect CIN1 or more squamous cell abnormalities or glandular abnormalities was 91.67% (= 374/408, 95% confidence interval [CI] 88.44-94.08%) for the Manual arm and 92.40% (= 377/408, 95% CI 89.28-94.70%) for the Imager arm, and the specificity was 88.87% (= 3,113/3,503, 95% CI 87.77-89.88%) for the Manual arm and 89.55% (= 3,137/3,503, 95% CI 88.48-90.54%) for the Imager arm. The differences in sensitivity and in specificity, respectively, were 0.74% (95% CI -3.14-4.61%, McNemar’s test, p = 0.8041) and 0.69% (95% CI -0.13-1.50%, McNemar’s test, p = 0.1125). About the equality of sensitivity and specificity between the 2 methods, 95% CIs of the difference between sensitivity and specificity are in the clinical equivalence range of ±5%, so the Imager arm is non-inferior to the Manual arm. Conclusion The Imager arm was confirmed to have an equivalent and non-inferior capacity in the detection of cervical lesions compared with the Manual arm, suggesting that its practical application in cervical cytology tests is highly possible.Background Early identification of attention-deficit/hyperactivity disorder (ADHD) in individuals with substance use disorders (SUD) is important because ADHD has an adverse effect on the development and course of SUD. Given the limited validity of self-report measures of ADHD in individuals with SUD, it is important to investigate the utility of the continuous performance test (CPT) in classifying ADHD in adults with SUD. Objective This review aims to examine the quantitative similarities and differences in CPT performance of adults with ADHD, SUD, and their comorbidity to determine if a distinct neurocognitive profile exists for each. Method A systematic review of CPT studies that included patients with the comorbidity of ADHD and SUD and a comparison group of one of the disorders alone was conducted. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were used. Results Eight studies were identified with sample sizes ranging from n = 17 to n = 386. The comorbidity of ADHD and SUD was, mostly, not associated with higher rates of commission and omission errors than either disorder alone. However, the comorbidity of ADHD and SUD was more likely to be associated with increased deficits in response time variability compared with individuals with ADHD alone. Conclusions This review highlights the shortage of large-scale CPT research involving patients with ADHD and SUD. The CPT might be sensitive to attentional deficits, but it lacks specificity for the classification of adult ADHD, SUD, or their comorbidity, and the CPT is thus not useful in discriminating comorbid ADHD and SUD from either disorder alone. Future CPT research should explore whether specific attentional deficits account for the development and persistence of SUD. Such research should also reach beyond traditional CPT measures and include other cognitive and behavioral deficits that were associated with ADHD, such as distractibility and hyperactivity.