A recurrent epidermoid cyst of the spleen: report of a case and literature review

BACKGROUND: Splenic cysts are rare disease. Epidermoid cysts of the spleen belong to the primary nonparasitic splenic cysts group. They are an unusual event in surgical practice. Usually, epidermoid cysts occur in children and young female. Most often, they are asymptomatic, but they may present with abdominal discomfort. CASE PRESENTATION: We are reporting a rare case of a 23-year-old female came to our attention with history of intermittent pain and previously undergone two times to laparoscopic decapsulation of the cyst in others institutions. During hospitalization, serum and intracystic levels of tumor marker CA19-9 increased. Enhanced CT of the abdomen showed recurrent large cyst in the upper pole of the spleen with satellite nodules. Laparotomic total splenectomy was performed. Histopathological and immunoreactive examinations were executed, and they revealed stratified squamous epithelium on the inner surface of cystic wall, which was positive for EMA, CEA, and CA19-9. The diagnosis of epidermoid cyst was confirmed. CONCLUSIONS: Recently, the surgical approach is changing towards conservative treatments in order to save the spleen in young patients for immunological reasons. Sometimes, this target is not achievable. In such circumstances, like recurrent large cyst, anomalous anatomical relationship to the surrounding tissues, total splenectomy is safe and necessary

Multigene Molecular Systematics Confirm Species Status of Morphologically Convergent Pagurus Hermit Crabs

Introduction: In spite of contemporary morphological taxonomy appraisals, apparent high morphological similarity raises uncertainty about the species status of certain Pagurus hermit crabs. This is exemplified between two European species, Pagurus excavatus (Herbst, 1791) and Pagurus alatus (Fabricius 1775), whose species status is still difficult to resolve using morphological criteria alone. Methodology/Principal Findings: To address such ambiguities, we used combinations of Maximum Likelihood (ML) and Bayesian Inference (BI) methods to delineate species boundaries of P. alatus and P. excavatus and formulate an intermediate Pagurus phylogenetic hypothesis, based upon single and concatenated mitochondrial (cytochrome oxidase I [COI]) and nuclear (16S and 28s ribosomal RNA) gene partitions. The molecular data supported the species status of P. excavatus and P. alatus and also clearly resolved two divergent clades within hermit crabs from the Northeast Atlantic Ocean and the Mediterranean Sea. Conclusions/Significance: Despite the abundance and prominent ecological role of hermit crabs, Pagurus, in North East Atlantic Ocean and Mediterranean Sea ecosystems, many important aspects of their taxonomy, biology, systematics and evolution remain poorly explored. The topologies presented here should be regarded as hypotheses that can be incorporated into the robust and integrated understanding of the systematic relationships within and between species of the genus Pagurus inhabiting the Northeast Atlantic Ocean and the Mediterranean Sea

Human and mouse essentiality screens as a resource for disease gene discovery.

The identification of causal variants in sequencing studies remains a considerable challenge that can be partially addressed by new gene-specific knowledge. Here, we integrate measures of how essential a gene is to supporting life, as inferred from viability and phenotyping screens performed on knockout mice by the International Mouse Phenotyping Consortium and essentiality screens carried out on human cell lines. We propose a cross-species gene classification across the Full Spectrum of Intolerance to Loss-of-function (FUSIL) and demonstrate that genes in five mutually exclusive FUSIL categories have differing biological properties. Most notably, Mendelian disease genes, particularly those associated with developmental disorders, are highly overrepresented among genes non-essential for cell survival but required for organism development. After screening developmental disorder cases from three independent disease sequencing consortia, we identify potentially pathogenic variants in genes not previously associated with rare diseases. We therefore propose FUSIL as an efficient approach for disease gene discovery