Pfeiffer syndrome: oral healthcare management and description of new dental findings in a craniosynostosis

Pfeiffer syndrome is a rare fibroblast growth factor receptor‐related craniosynostosis with variable clinical presentations. We describe new dental findings of hypodontia, microdontia, dilacerations, and radicular dentin dysplasia in a 19‐year‐old girl, and discuss the oral health management.     

Classifying highly imbalanced ICU data

Highly imbalanced data sets are those where the class of interest is rare. In this paper, we compare the performance of several common data mining methods, logistic regression, discriminant analysis, Classification and Regression Tree (CART) models, C5, and Support Vector Machines (SVM) in predicting the discharge status (alive or deceased, with “deceased” being the class of interest) of patients from an Intensive Care Unit (ICU). Using a variety of misclassification cost ratio (MCR) values and using specificity, recall, precision, the F-measure, and confusion entropy (CEN) as criteria for evaluating each method’s performance, C5 and SVM performed better than the other methods. At a MCR of 100, C5 had the highest recall and SVM the highest specificity and lowest CEN. We also used Hand’s measure to compare the five methods. According to Hand’s measure, logistic regression performed the best. This article makes several contributions. We show how the use of MCR for analyzing imbalanced medical data significantly improves the method’s classification performance. We also found that the F-measure and precision did not improve as the MCR was increased.     

Challenges in the management of pleomorphic lobular carcinoma in situ of the breast

BackgroundPleomorphic Lobular Carcinoma in Situ (PLCIS) is a pathological variant of Lobular Carcinoma in Situ (LCIS) with distinct features. Since first described over a decade ago there are only few papers published about this condition.MethodsMedline and Pubmed based literature overview was done with the aim of describing the different histopathological, radiological and clinical features of this pathological entity to highlight the different clinicopathological presentations and modalities of treatment described.ResultsPLCIS has different biological features when compared to LCIS. It is more likely to be associated with invasive disease and the immuno-histochemical profile shows it is less likely to be ER and PR positive with higher positivity of HER2, Ki-67and p53. It has been suggested that PLCIS should be treated more aggressively than LCIS and surgically excised in similar fashion to DCIS.ConclusionPLCIS is a more aggressive variant of LCIS that needs to be managed differently. Surgical excision with clear margins is advised. Further adjuvant treatments have been described in the literature with little evidence to support their use.     

Acute necrotizing encephalopathy due to SARS-CoV-2 in a pregnant female

Neurological Sciences -     

A role for dynamin in triggering ethanol tolerance

Background: A prevailing hypothesis is that the set of genes that underlie the endophenotypes of alcoholism overlap with those responsible for the addicted state. Functional ethanol tolerance, an endophenotype of alcoholism, is defined as a reduced response to ethanol caused by prior ethanol exposure. The neuronal origins of functional rapid tolerance are thought to be a homeostatic response of the nervous system that counters the effects of the drug. Synaptic proteins that regulate neuronal activity are an important evolutionarily conserved target of ethanol. Methods: We used mutant analysis in Drosophila to identify synaptic proteins that are important for the acquisition of rapid tolerance to sedation with ethanol. Tolerance was assayed by sedating flies with ethanol vapor and comparing the recovery time of flies after their first sedation and their second sedation. Temperature‐sensitive paralytic mutants that alter key facets of synaptic neurotransmission, such as the propagation of action potentials, synaptic vesicle fusion, exocytosis, and endocytosis, were tested for the ability to acquire functional tolerance at both the permissive and restrictive temperatures. Results: The shibire gene encodes Drosophila Dynamin. We tested 2 temperature‐sensitive alleles of the gene. The shi^ts1 allele blocked tolerance at both the permissive and restrictive temperatures, while shi^ts2 blocked only at the restrictive temperature. Using the temperature‐sensitive property of shi^ts2, we showed that Dynamin function is required concomitant with exposure to ethanol. A temperature‐sensitive allele of the Syntaxin 1A gene, Syx1A^3–69, also blocked the acquisition of ethanol tolerance. Conclusions: We have shown that shibire and Syntaxin 1A are required for the acquisition of rapid functional tolerance to ethanol. Furthermore, the shibire gene product, Dynamin, appears to be required for an immediate early response to ethanol that triggers a cellular response leading to rapid functional tolerance.     

Laparoscopic bile duct exploration via choledochotomy followed by primary duct closure is feasible and safe for the treatment of choledocholithiasis

Background

The common bile duct traditionally is managed with T-tube drainage after choledochotomy and removal of common bile duct (CBD) stones, but this approach carries an associated tube-related morbidity rate, including bile leak, of 10.5–20 %. This study examined the safety and effectiveness of laparoscopic CBD exploration (LCBDE) followed by primary duct closure.

Methods

This is a retrospective analysis of 120 consecutive patients (81 female) who underwent LCBDE between October 2002 and October 2012. The duct primarily was closed in all patients. The results are given as median (range).

Results

Trans-CBD exploration was performed in 120 patients and all cases were successfully completed laparoscopically. The maximum diameter of the CBD was 9.4 (3–30) mm and the number of CBD stones detected was 3 (0–20). The biliary tree was clear at the end of exploration in 116 patients (96.7 %). The operating time was 122 (70–360) min. The mortality rate, morbidity rate, postoperative bile leak rate, rate of retained CBD stones after the primary procedure, and CBD stricture rate at a follow-up of 39.2 (2–82) months were 0, 8.3, 2.5, 3.3, and 0.8 %, respectively. The postoperative hospital stay was 2.1 (1–29) days.

Conclusion

Primary duct closure following LCBDE is safe, can be employed routinely as an alternative to T-tube insertion, and has a short hospital stay and low morbidity rate.