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Discovery interfaces are a very current topics in the field of library services. The expectations of users in this regard are growing due to the progress of Web 2.0. An integration of information resources and advanced services into a unified environment build on top of a federated search engines or a central index becomes necessary. The Xerxes platform developed by David Walker at the California State University meets the high requirements of users and presents an attractive interface. It recently got its first instance in Czech Republic. The assets of Xerxes are especially its openness and extensibility via a portfolio of advanced services. This article provides a comprehensive description of the whole solution and summarizes the options Xerxes brings to the end user. It also proposes some possibilities of further development of not only the Xerxes platform but also of discovery interfaces in general. [ABSTRACT FROM AUTHOR]

Cholesterol plays an important biological role in the body, and its disruption in homeostasis and synthesis has been implicated in several diseases. Mapping the locations of cholesterol is crucial for gaining a better understanding of these conditions. Silver deposition has proven to be an effective method for analyzing cholesterol using mass spectrometry imaging (MSI). We optimized and evaluated thermal evaporation as an alternative deposition technique to sputtering for silver deposition in MSI of cholesterol. A silver layer with a thickness of 6 nm provided an optimal combination of cholesterol signal intensity and mass resolution. The deposition of an ultrathin nanofilm of silver enabled high-resolution MSI with a pixel size of 10 µm. We used this optimized method to visualize the distribution of cholesterol in the senile plaques in the brains of APP/PS1 mice, a model that resembles Alzheimer's disease pathology. We found that cholesterol was evenly distributed across the frontal cortex tissue, with no evidence of plaque-like accumulation. Additionally, we investigated the presence and distribution of cholesterol in myocardial sections of a human heart affected by wild-type ATTR amyloidosis. We identified the presence of cholesterol in areas with amyloid deposition, but complete colocalization was not observed. [ABSTRACT FROM AUTHOR]

In this article we present the case of a woman, who had a bulky mass in the adrenal gland. Laparoscopic adrenalectomy was performed, and histopathological examination confirmed a cavernous lymphangioma. It is a benign tumour that occurs in most cases in the head and neck region or in the mediastinum. The primary localisation in the adrenal gland is rare. [ABSTRACT FROM AUTHOR]

Background and aim: Gene defects contribute to the aetiology of intrahepatic cholestasis. We aimed to explore the outcome of whole-exome sequencing (WES) in a cohort of 51 patients with this diagnosis. Patients and methods: Both paediatric (n = 33) and adult (n = 18) patients with cholestatic liver disease of unknown aetiology were eligible. WES was used for reassessment of 34 patients (23 children) without diagnostic genotypes in ABCB11, ATP8B1, ABCB4 or JAG1 demonstrable by previous Sanger sequencing, and for primary assessment of additional 17 patients (10 children). Nasopharyngeal swab mRNA was analysed to address variant pathogenicity in two families. Results: WES revealed biallelic variation in 3 ciliopathy genes (PKHD1, TMEM67 and IFT172) in 4 clinically unrelated index subjects (3 children and 1 adult), heterozygosity for a known variant in PPOX in one adult index subject, and homozygosity for an unreported splice-site variation in F11R in one child. Whereas phenotypes of the index patients with mutated PKHD1, TMEM67, and PPOX corresponded with those elsewhere reported, how F11R variation underlies liver disease remains unclear. Two unrelated patients harboured different novel biallelic variants in IFT172, a gene implicated in short-rib thoracic dysplasia 10 and Bardet-Biedl syndrome 20. One patient, a homozygote for IFT172 rs780205001 c.167A>C p.(Lys56Thr) born to first cousins, had liver disease, interpreted on biopsy aged 4y as glycogen storage disease, followed by adult-onset nephronophthisis at 25y. The other, a compound heterozygote for novel frameshift variant IFT172 NM_015662.3 c.2070del p.(Met690Ilefs*11) and 2 syntenic missense variants IFT172 rs776310391 c.157T>A p.(Phe53Ile) and rs746462745 c.164C>G p.(Thr55Ser), had a severe 8mo cholestatic episode in early infancy, with persisting hyperbilirubinemia and fibrosis on imaging studies at 17y. No patient had skeletal malformations. Conclusion: Our findings suggest association of IFT172 variants with non-syndromic cholestatic liver disease. [ABSTRACT FROM AUTHOR]

Reconstruction of RVOT in patients with a congenital heart defect in various age groups still remains a controversial issue in valve disease surgery. Early identification of RVOT dysfunction, proper timing, and choosing an appropriate method of reconstruction all have an essential effect on postoperative outcomes and long-term survival of the valve replacement used. There are a number of options for RVOT reconstruction. The use of each prosthesis is associated with the development of various complications. [ABSTRACT FROM AUTHOR]