Frequency of tail loss does not reflect innate predisposition in temperate New Zealand lizards

Caudal autotomy (tail shedding) is a defence mechanism against predation which is used by lizards when other tactics, such as crypsis and escape, prove ineffective. The speed at which autotomy occurs has important implications for survival, and the accuracy of tail loss is of consequence for an individual’s future fitness. Autotomy is shaped by both taxon-specific tail morphology as well as environmental factors such as predator history, and it can be difficult to distinguish between these processes. In this study, the frequency of tail-regeneration observed (field rate of autotomy), latency (speed of autotomy in the laboratory) and accuracy of tail loss were measured in six lizard species from two families (Scincidae and Diplodactylidae). The field rate and latency of autotomy was similar among all species except for the large nocturnal skink Oligosoma macgregori, which was less likely to autotomise. Latency and field rates of autotomy were not correlated, implying that the field rates of autotomy are related to predation attacks, social interactions, or some other environmental factor, rather than an innate disposition to autotomy. Further study, for example comparing populations with low and high predation pressure, will help to explain which of these factors are influencing autotomy rates.     

Do spotless starlings place feathers at their nests by ultraviolet color?

A considerable number of bird species carry feathers to their nests. Feathers’ presence in the nests has traditionally been explained by their insulating properties. Recently, however, it has been suggested that feathers carried to the nests by females of the spotted starling (Sturnus unicolor L.) could have an ornamental function based on their ultraviolet (300–400 nm) and human-visible longer wavelength (400–700 nm) coloration. In our population, 95.7% of feathers found inside next-boxes occupied by nesting starlings were rock dove fly feathers. Of these feathers, 82.7% were naturally positioned with their reverse side oriented toward the entrance hole and 42.4% of all found feathers were situated within the nest-cup. Here we experimentally assess the signaling function of ultraviolet coloration of feathers in nests of spotless starlings by providing nests with a number of pigeon flight feathers that were respectively treated on their obverse, reverse, both, or neither side with a UV blocker. Starlings placed 42.5% of the experimental feathers in the nest-cup irrespective of the UV block treatment. Orientation of feathers toward the entrance hole was not related with their ultraviolet radiation. However, feathers placed within the nest-cup were more likely found with their reverse side oriented toward the entrance hole confirming our correlative findings. These results suggest a minor role of ultraviolet coloration on feather location by spotless starlings.     

Issues Concerning Survival of Viruses on Surfaces

Viruses are the causative agents of an estimated 60% of human infections worldwide. The most common viral illnesses are produced by enteric and respiratory viruses. Transmission of these viruses from an infected person or animal to a new host can occur via several routes. Existing studies strongly suggest that contaminated fomites or surfaces play an important role in the spreading of viral diseases. The potential of viral spreading via contaminated surfaces depends particularly on the ability of the virus to maintain infectivity whilst it is in the environment. This is affected by a combination of biological, physical and chemical factors. This review summarises current knowledge about the influence of environmental factors on the survival and spread of viruses via contaminated surfaces.     

Turner syndrome-omphalocele association: Incidence,karyotype, phenotype and fetal outcome

Objective

Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith–Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes.

Method

Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.

Results

680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive.

Conclusion

TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.     

Non-invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches

Objectives

To develop a flexible droplet digital PCR (ddPCR) workflow to perform non-invasive prenatal diagnosis via relative mutation dosage (RMD) for maternal pathogenic variants with a range of inheritance patterns, and to compare the accuracy of multiple analytical approaches.

Methods

Cell free DNA (cfDNA) was tested from 124 archived maternal plasma samples: 88 cases for sickle cell disease and 36 for rare Mendelian conditions. Three analytical methods were compared: sequential probability ratio testing (SPRT), Bayesian and z-score analyses.

Results

The SPRT, Bayesian and z-score analyses performed similarly well with correct prediction rates of 96%, 97% and 98%, respectively. However, there were high rates of inconclusive results for each cohort, particularly for z-score analysis which was 31% overall. Two samples were incorrectly classified by all three analytical methods; a false negative result predicted for a fetus affected with sickle cell disease and a false positive result predicting the presence of an X-linked IDS variant in an unaffected fetus.

Conclusions

ddPCR can be applied to RMD for diverse conditions and inheritance patterns, but all methods carry a small risk of erroneous results. Further evaluation is required both to reduce the rate of inconclusive results and explore discordant results in more detail.     

Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant

A 26 year old nulligravida presented at 24 weeks gestation for the second opinion of abnormal fetal profile and mid-face views on ultrasound at another institution. A detailed fetal anatomic ultrasound at our facility revealed the absence of fetal lens and globes bilaterally consistent with bilateral anophthalmia (HP: 0000528) without other anomalies. Karyotype and chromosomal microarray analysis were completed from amniocentesis sample. After these results, duo exome testing with paternal sequencing was completed from proband amniotic fluid sample and parental blood samples. A pathogenic variant in SOX2 (NM_003106.3: c.513C>G p.(Tyr171*Ter)) with heterozygous autosomal dominant inheritance resulted. On duo exome testing with paternal segregation analysis, the variant was found to be consistent with likely sporadic de novo inheritance. The SOX2 variant reported is consistent with the fetal phenotype in this case. While germline mosaicism could exist, this identified variant provided the family with a likely explanation for this proband's finding. This ultrasound and genetic testing allowed the family to make decisions related to planning in current and future pregnancies.     

Foreword

Mitigation and Adaptation Strategies for Global Change -