Distal Fibula Reconstruction in Primary Malignant Tumours

(1) Background: Restoration of ankle biomechanics after distal fibula (DF) resection in bone sarcomas can be performed with different techniques. We report the functional and oncological outcomes of a case series; (2) Methods: Ten patients (5 females and 5 males) with a mean age of 27 years (range 10–71) were retrospectively evaluated. Following the resection, different techniques were used to reconstruct the ankle: tibiotalar arthrodesis, residual lateral malleolus fixed to the tibia, non-vascularized or rotational vascularized fibula transposition and intercalary allograft. All complications were recorded, and the functional outcomes were evaluated; (3) Results: The mean follow-up time was 54 months (range, 13–116). Six patients were free of disease while four patients died of disease. All patients had a stable ankle and bone union, which was achieved after a mean of 9.4 months (range 3–20). The mean MSTS Score was 26.7 (range 21–30). Chronic ankle pain and peroneal external nerve palsy were observed. Patients underwent additional surgeries for deep infection and for equinus ankle deformity. No local recurrence was observed. Metastasis occurred in four patients after a mean of 14.7 months (range 2–34); (4) Conclusions: After DF resection, the restoration of ankle biomechanics gives acceptable functional results, but a larger series of patients with long-time follow-up are required to confirm the durability of the reconstruction.     

Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients

Non-dystrophic myotonias and periodic paralyses are a heterogeneous group of disabling diseases classified as skeletal muscle channelopathies. Their genetic characterization is essential for prognostic and therapeutic purposes; however, several genes are involved. Sanger-based sequencing of a single gene is time-consuming, often expensive; thus, we designed a next-generation sequencing panel of 56 putative candidate genes for skeletal muscle channelopathies, codifying for proteins involved in excitability, excitation-contraction coupling, and metabolism of muscle fibres. We analyzed a large cohort of 109 Italian patients with a suspect of NDM or PP by next-generation sequencing. We identified 24 patients mutated in CLCN1 gene, 15 in SCN4A, 3 in both CLCN1 and SCN4A, 1 in ATP2A1, 1 in KCNA1 and 1 in CASQ1. Eight were novel mutations: p.G395Cfs*32, p.L843P, p.V829M, p.E258E and c.1471+4delTCAAGAC in CLCN1, p.K1302R in SCN4A, p.L208P in ATP2A1 and c.280–1G>C in CASQ1 genes. This study demonstrated the utility of targeted next generation sequencing approach in molecular diagnosis of skeletal muscle channelopathies and the importance of the collaboration between clinicians and molecular geneticists and additional methods for unclear variants to make a conclusive diagnosis.     

Management of sexual dysfunction due to vulvar lichen sclerosus in postmenopausal women

Lichen sclerosus is a chronic skin disease, probably immune‐mediated, with a strong genetic component. It shows a predilection for external genitalia. It is most common in postmenopausal women, although it has been documented at all ages and in both sexes. The exact prevalence of lichen sclerosus is unknown. However, in recent years much progress has been made in defining its etiology and epidemiology, and we now know that it is far more frequent than previously thought. The purpose of this review is to focus more attention on the relationship between LS and sexual dysfunction, and on a few important aspects of managing perimenopausal patients diagnosed with LS. Lichen sclerosus is a chronic, debilitating condition that may progress to cause significant physical and psychological complications. The disease calls for lifetime follow‐up.     

Profiling Lung Cancer Patients Using Electronic Health Records

If Electronic Health Records contain a large amount of information about the patient’s condition and response to treatment, which can potentially revolutionize the clinical practice, such information is seldom considered due to the complexity of its extraction and analysis. We here report on a first integration of an NLP framework for the analysis of clinical records of lung cancer patients making use of a telephone assistance service of a major Spanish hospital. We specifically show how some relevant data, about patient demographics and health condition, can be extracted; and how some relevant analyses can be performed, aimed at improving the usefulness of the service. We thus demonstrate that the use of EHR texts, and their integration inside a data analysis framework, is technically feasible and worth of further study.     

Thermally induced fracture for core-veneered dental ceramic structures

Effective and reliable clinical uses of dental ceramics necessitate an insightful analysis of the fracture behaviour under critical conditions. To better understand failure characteristics of porcelain veneered to zirconia core ceramic structures, thermally induced cracking during the cooling phase of fabrication is studied here by using the extended finite element method (XFEM). In this study, a transient thermal analysis of cooling is conducted first to determine the temperature distributions. The time-dependent temperature field is then imported to the XFEM model for viscoelastic thermomechanical analysis, which predicts thermally induced damage and cracking at different time steps. Temperature-dependent material properties are used in both transient thermal and thermomechanical analyses. Three typical ceramic structures are considered in this paper, namely bi-layered spheres, squat cylinders and dental crowns with thickness ratios of either 1:2 or 1:1. The XFEM fracture patterns exhibit good agreement with clinical observation and the in vitro experimental results obtained from scanning electron microscopy characterization. The study reveals that fast cooling can lead to thermal fracture of these different bi-layered ceramic structures, and cooling rate (in terms of heat transfer coefficient) plays a critical role in crack initiation and propagation. By exploring different cooling rates, the heat transfer coefficient thresholds of fracture are determined for different structures, which are of clear clinical implication.     

Surface structural-chemical characterization of a single-site d0 heterogeneous arene hydrogenation catalyst having 100% active sites

Structural characterization of the catalytically significant sites on solid catalyst surfaces is frequently tenuous because their fraction, among all sites, typically is quite low. Here we report the combined application of solid-state ¹³C-cross-polarization magic angle spinning nuclear magnetic resonance (¹³C-CPMAS-NMR) spectroscopy, density functional theory (DFT), and Zr X-ray absorption spectroscopy (XAS) to characterize the adsorption products and surface chemistry of the precatalysts (η⁵-C₅H₅)₂ZrR₂ (R = H, CH₃) and [η⁵-C₅(CH₃)₅]Zr(CH₃)₃ adsorbed on Brønsted superacidic sulfated alumina (AlS). The latter complex is exceptionally active for benzene hydrogenation, with ∼100% of the Zr sites catalytically significant as determined by kinetic poisoning experiments. The ¹³C-CPMAS-NMR, DFT, and XAS data indicate formation of organozirconium cations having a largely electrostatic [η⁵-C₅(CH₃)₅]Zr(CH₃)₂⁺···AlS⁻ interaction with greatly elongated Zr···O_AlS distances of ∼2.35(2) Å. The catalytic benzene hydrogenation cycle is stepwise understandable by DFT, and proceeds via turnover-limiting H₂ delivery to surface [η⁵-C₅(CH₃)₅]ZrH₂(benzene)⁺···AlS⁻ species, observable by solid-state NMR and XAS.     

No association of endocannabinoid genes with bipolar disorder or lithium response in a Sardinian sample

Bipolar disorder (BD) is a chronic and severe psychiatric condition with an underlying component of genetic susceptibility. Mounting evidence suggests a potential role of the endogenous cannabinoid (eCB) system in the pathogenesis of BD. Here we investigated the role of genes encoding for key eCB elements on the risk of developing BD in a sample of 357 BD patients and 422 healthy controls of Sardinian ancestry. Using the HapMap CEU population SNP database, we selected 25 tag Single Nucleotide Polymorphisms (tSNPs) in N-acyl phosphatidylethanolamine phospholipase D (NAPE-PLD), cannabinoid receptor 1 (CNR1) and fatty acid amide hydrolase (FAAH) genes. No significant association was reported for FAAH or CNR1. SNPs rs11487077 and rs6465903 in NAPE-PLD showed nominal association (p=0.033 and p=0.026, respectively) with BD, not significant after permutation testing. These SNPs were also tested for association with lithium response in 204 BD patients characterized for response to long-term lithium treatment, reporting no significant findings. As a whole, our results do not support a clear role of FAAH, CNR1 and NAPE-PLD in BD and lithium response. Additional studies on independent, larger samples are warranted to further explore the involvement of the eCB system in BD.