This is the first reported case of human fatality associated with zinc intoxication following a massive ingestion of coins. Four hundred and sixty-one coins were removed form the gastrointestinal tract of a schizophrenic patient during the course of hospitalization. Many of the post-1981 pennies, which consist primarily of zinc, showed severe corrosion due to their prolonged contact with acidic gastric juice. The patient presented with clinical manifestations consistent with the local corrosive as well as systemic effects of zinc intoxication and died 40 days after admission with multi-system organ failure. Tissue samples of the kidneys, pancreas, and liver obtained at autopsy revealed acute tubular necrosis, mild fibrosis, and acute massive necrosis, respectively, and contained high levels of zinc. The overall effects of zinc intoxication on the various organ systems, possible hematological derangement, and the impairment of copper absorption as well as the outcome with treatment are discussed.
Advances in next-generation sequencing (NGS) technologies have helped reveal causal variants for genetic diseases. In order to establish causality, it is often necessary to compare genomes of unrelated individuals with similar disease phenotypes to identify common disrupted genes. When working with cases of rare genetic disorders, finding similar individuals can be extremely difficult. We introduce a web tool, GeneYenta, which facilitates the matchmaking process, allowing clinicians to coordinate detailed comparisons for phenotypically similar cases. Importantly, the system is focused on phenotype annotation, with explicit limitations on highly confidential data that create barriers to participation. The procedure for matching of patient phenotypes, inspired by online dating services, uses an ontology-based semantic case matching algorithm with attribute weighting. We evaluate the capacity of the system using a curated reference data set and 19 clinician entered cases comparing four matching algorithms. We find that the inclusion of clinician weights can augment phenotype matching.
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