These results suggest that normal mode alexandrite laser may clear or cosmetically improve small melanocytic nevi whether congenital or acquired. However, the concern about the recurrence of the nevi and the potential for malignant transformation should be addressed by long-term follow-up studies.

Background: Thyroid fine needle aspiration (FNA) is the mainstay for diagnosis of malignancy, and is an integral part of current thyroid nodule assessment. The present study analyzes the diagnostic accuracy of palpation-directed versus ultrasound guided fine-needle aspiration in patients who underwent surgery for thyroid nodules. Methods: A retrospective chart review of all consecutive patients who had FNA biopsy (palpation or ultrasound guided) of thyroid nodules and underwent thyroid gland surgery between 1998 and 2014 was conducted. The FNA findings of the palpation-guided and ultrasound-guided groups were compared for baseline characteristics. Moreover, the diagnostic accuracy of FNA findings and surgical histopathology results were analyzed. Results: A total of 1174 patients were included in the study with a mean age of 46.3 ± 11.7 years and the majority were females (75.5%). Among the study population, 392 (33.4%) patients underwent USguided FNA; 570 (48.6%) had palpation-guided FNA in clinic and no FNA was done in 212 (18%) cases. Patients underwent US-guided FNA were more likely to have suspicion of malignancy (p = 0.001), and had indeterminate findings (p = 0.001). On the other hand, palpation-guided FNA group had significantly higher frequency of benign cytology (p = 0.001). With respect to the suspicion for malignancy as well as malignancy, the US-guided group had a similar diagnostic accuracy in comparison to the palpation group. The proportion of malignancy finding on US-guided FNA (8.9%) was higher than the palpation-guided FNA (6.4%) that had been confirmed on postoperative histopathological examination (p = 0.95). Conclusion: The present study demonstrates higher sensitivity of US-guided thyroid FNA biopsies over palpation-guided FNA for the suspicion of malignancy; however, the accuracy is comparable. Moreover, both groups showed more postoperative malignancy in the benign and unsatisfactory categories than predicted in the Bethesda system. Further prospective studies are needed to underpin a realistic correlation between FNA and final histopathology reports.

No abstract

Introduction. Shwachman-Diamond Syndrome (SDS) is an autosomal-recessive disorder characterized by neutropenia, pancreatic exocrine insufficiency, skeletal dysplasia, and an increased risk for leukemic transformation. Biallelic mutations in the SBDS gene have been found in about 90% of patients. The clinical spectrum of SDS in patients is wide, and variability has been noticed between different patients, siblings, and even within the same patient over time. Herein, we present two SDS siblings (UPN42 and UPN43) carrying the same SBDS mutations and showing relevant differences in their phenotypic presentation. Study aim. We attempted to understand whether other germline variants, in addition to SBDS, could explain some of the clinical variability noticed between the siblings. Methods. Whole-exome sequencing (WES) was performed. Human Phenotype Ontology (HPO) terms were defined for each patient, and the WES data were analyzed using the eVai and DIVAs platforms. Results. In UPN43, we found and confirmed, using Sanger sequencing, a novel de novo variant (c.10663G>A, p.Gly3555Ser) in the KMT2A gene that is associated with autosomal-dominant Wiedemann–Steiner Syndrome. The variant is classified as pathogenic according to different in silico prediction tools. Interestingly, it was found to be related to some of the HPO terms that describe UPN43. Conclusions. We postulate that the KMT2A variant found in UPN43 has a concomitant and co-occurring clinical effect, in addition to SBDS mutation. This dual molecular effect, supported by in silico prediction, could help to understand some of the clinical variations found among the siblings. In the future, these new data are likely to be useful for personalized medicine and therapy for selected cases.

No abstract