Associations between forensic loci and expression levels of neighboring genes may compromise medical privacy.

A set of 20 short tandem repeats (STRs) is used by the US criminal justice system to identify suspects and to maintain a database of genetic profiles for individuals who have been previously convicted or arrested. Some of these STRs were identified in the 1990s, with a preference for markers in putative gene deserts to avoid forensic profiles revealing protected medical information. We revisit that assumption, investigating whether forensic genetic profiles reveal information about gene-expression variation or potential medical information. We find six significant correlations (false discovery rate = 0.23) between the forensic STRs and the expression levels of neighboring genes in lymphoblastoid cell lines. We explore possible mechanisms for these associations, showing evidence compatible with forensic STRs causing expression variation or being in linkage disequilibrium with a causal locus in three cases and weaker or potentially spurious associations in the other three cases. Together, these results suggest that forensic genetic loci may reveal expression levels and, perhaps, medical information.

Genome editing in the unicellular holozoan Capsaspora owczarzaki suggests a premetazoan role for the Hippo pathway in multicellular morphogenesis.

Animal development is mediated by a surprisingly small set of canonical signaling pathways such as Wnt, Hedgehog, TGF-beta, Notch, and Hippo pathways. Although once thought to be present only in animals, recent genome sequencing has revealed components of these pathways in the closest unicellular relatives of animals. These findings raise questions about the ancestral functions of these developmental pathways and their potential role in the emergence of animal multicellularity. Here, we provide the first functional characterization of any of these developmental pathways in unicellular organisms by developing techniques for genetic manipulation in Capsaspora owczarzaki, a close unicellular relative of animals that displays aggregative multicellularity. We then use these tools to characterize the Capsaspora ortholog of the Hippo signaling nuclear effector YAP/TAZ/Yorkie (coYki), a key regulator of tissue size in animals. In contrast to what might be expected based on studies in animals, we show that coYki is dispensable for cell proliferation but regulates cytoskeletal dynamics and the three-dimensional (3D) shape of multicellular structures. We further demonstrate that the cytoskeletal abnormalities of individual coYki mutant cells underlie the abnormal 3D shape of coYki mutant aggregates. Taken together, these findings implicate an ancestral role for the Hippo pathway in cytoskeletal dynamics and multicellular morphogenesis predating the origin of animal multicellularity, which was co-opted during evolution to regulate cell proliferation.

A prototype for cartographic human body analysis.

A cartographic-oriented model uses algebraic map operations to perform spatial analysis of medical data relative to the human body. A prototype system uses 3D visualization techniques to deliver analysis results. A prototype implementation suggests the model might provide the basis for a medical application tool that introduces new information insight.

Síndrome nefrótica congênita por doença microcística renal (tipo finlandes): revisäo bibliográfica e apresentaçäo de um caso clínico

Os autores apresentam uma ampla revisäo bibliográfica e um caso de síndrome Nefrótica congênita tipo finlandês em um paciente de quarenta dias de vida, do sexo feminino, cujo diagnóstico foi suspeitado através dos quadros clínico e laboratorial apresentados no momento da internaçäo, no Hospital da Aeronáutica de Belém, que revelaram edema generalizado, proteinúria e hipoalbuminemia. Instituída a corticoterapia no segundo dia de internaçäo, a paciente näo respondeu a mesma, e no décimo dia de internaçäo evoluiu para o óbito. Foi realizada nefrectomia bilateral "post mortem" com posterior estudo anátomo-patológico que confirmou o diagnóstico de Síndrome Nefrótica Congênita por doença Microcística Renal - Tipo finlandes - pois evidenciou alteraçöes características da referida síndrome