Case Report of a Triplet Pregnancy with Complete Hydatidiform Mole and Coexisting Twins.

Background: Triplet pregnancy with complete hydatidiform mole and coexisting twin fetuses is extremely rare with an unknown incidence. Case: Here, we present a case report of a pregnancy with twin fetuses and concurrent hydatidiform mole that resulted in the preterm delivery of one viable baby, the unfortunate intrauterine demise of the other twin, and successful treatment of gestational trophoblastic neoplasia in the postpartum period. Conclusion: This case highlights several important questions that arise for women who choose to carry a multiple gestation pregnancy with complete hydatidiform mole and describes complications that can occur. It is imperative to accurately assess risks and counsel individuals who elect to carry these pregnancies to provide the best possible outcomes.

MicroCT-based phenomics in the zebrafish skeleton reveals virtues of deep phenotyping in a distributed organ system.

Phenomics, which ideally involves in-depth phenotyping at the whole-organism scale, may enhance our functional understanding of genetic variation. Here, we demonstrate methods to profile hundreds of phenotypic measures comprised of morphological and densitometric traits at a large number of sites within the axial skeleton of adult zebrafish. We show the potential for vertebral patterns to confer heightened sensitivity, with similar specificity, in discriminating mutant populations compared to analyzing individual vertebrae in isolation. We identify phenotypes associated with human brittle bone disease and thyroid stimulating hormone receptor hyperactivity. Finally, we develop allometric models and show their potential to aid in the discrimination of mutant phenotypes masked by alterations in growth. Our studies demonstrate virtues of deep phenotyping in a spatially distributed organ system. Analyzing phenotypic patterns may increase productivity in genetic screens, and facilitate the study of genetic variants associated with smaller effect sizes, such as those that underlie complex diseases.

Neuron subset-specific Pten deletion induces abnormal skeletal activity in mice.

Individuals with a history of epilepsy are at higher risk for bone fractures compared to the general population. Although clinical studies support an association between low bone mineral density (BMD) and anti-seizure medications, little is known on whether a history of seizures is linked to altered bone health. Therefore, in this study we tested the hypothesis that bone mass, morphology, and bone mineralization are altered by seizures in genetically epileptic animals and in animals subjected to an episode of status epilepticus. In this study, we used NS-Pten conditional knockout mice (a well-studied genetic model of epilepsy). We used microCT analysis to measure BMD, morphology, and mineralization in NS-Pten+/+ (wildtype) and NS-Pten-/- (knockout) mice at 4 and 8weeks, as well as adult Kv4.2+/+ and Kv4.2-/- mice. We measured BMD, bone morphology, and mineralization in adult NS-Pten+/+ mice that received status epilepticus through kainic acid (20mg/kg intraperitoneal). Further, we measured locomotion for NS-Pten+/+ and NS-Pten-/- mice at 4 and 6weeks. We found that NS-Pten-/- mice exhibited low BMD in the tibial metaphysis and midshaft compared to non-epileptic mice. Morphologically, NS-Pten-/- mice exhibited decreased trabecular volume fraction, and endocortical expansion in both the metaphyeal and diaphyseal compartments. In the midshaft, NS-Pten-/- mice exhibited reduced tissue mineral density, indicating impaired mineralization in addition to morphological deficits. NS-Pten-/- mice exhibited hyperactivity in open field testing, suggesting low bone mass in NS-Pten-/- mice was not attributable to hypoactivity. Differences in BMD were not observed following kainate-induced seizures or in the Kv4.2-/- model of seizure susceptibility. Our findings suggest that deletion of Pten in the brain results in impaired bone mass and mineralization, which may contribute to weaker bones and thereby a higher fracture risk.