A Review of Recent Developments in Turner Syndrome Research

Turner syndrome is a rare disorder resulting from complete or partial loss of the second sex chromosome. Common manifestations include delayed growth, premature ovarian failure, congenital heart defects, endocrine disorders, lymphedema, and webbed neck. People with Turner syndrome have significantly increased mortality risk primarily due to cardiovascular abnormalities. The mechanisms that lead to these defects are not completely understood and are obscured by the significant variability of both karyotype and phenotype without consistent correlation between the two. This paper presents a review of the recent literature surrounding the symptoms, mechanisms, diagnosis, and treatment of Turner syndrome with a focus on cardiovascular manifestations. With technological advancements in genetics, the molecular processes of Turner syndrome have begun to be dissected. Certain genes on the X chromosome that typically escape inactivation have been implicated in both specific manifestations and broader risk categories. Recently identified genome-wide epigenetic changes may help explain the variability in presentation. It remains unclear as to how the combination of these factors results in the overall clinical picture, but advances in genomic, genetic, epigenetic, and -omics technology hold promise for providing insights that will improve the medical management of individuals with Turner syndrome.

Optimizing Temperature and Photoperiod in a Home Cultivation System to Program Normal, Delayed, and Hastened Growth and Development Modes for Leafy Oak-Leaf and Romaine Lettuces

As the risk of open-field cultivation increases with climate change, some analysts say that the day when ordinary vegetables will be produced at home is not far away. Moreover, due to the recent coronavirus outbreak, outdoor activities are becoming difficult, leisure activities that can be done at home have become more necessary, and the demand for home gardening has increased. This study was conducted to improve the technology for hydroponics at home. We experimented with whether the harvest time can be hastened or delayed by environmentally controlling the growing season, and what conditions are appropriate. Experiments were conducted with leafy vegetables (Lactuca sativa L. ‘Oak-leaf’ and Lactuca sativa L. var. longifolia, or romaine) that can easily be grown in a closed plant cultivator in which the external air can circulate, and the temperature/photoperiod can be controlled. Two settings for the temperature (25/18 °C and 20/15 °C; day/night) and three settings for the photoperiod (10, 14, and 18 hours; day/night) were employed. It took a total of four weeks from sowing to harvest, and the appropriate harvest time was predicted from the yield. As a result, although there was a difference depending on the vegetable variety, a temperature setting of 25/18 °C and a photoperiod of 14 hours were the most suitable for hastened growth, and a 20/15 °C temperature and 18 hours of photoperiod were suitable for the delayed growth.

Interface Delay

Interface Delay is a theory of syntactic development, which attempts to explain an array of constructions that are slow to develop, which are characterized by being sensitive to discourse-pragmatic considerations of the type associated with the natural semantic class of definites. The theory claims that neither syntax itself, nor the discourse-pragmatic abilities related to executive function and theory of mind themselves are slow to develop. Rather, the claim is that the nexus or interface between the two cognitive domains is slow to develop. We review the development of subjects in child Spanish as an example of this delayed growth trajectory. Further, we review evidence that a delay in the development of tense causes concomitant delays in the seemingly unrelated phenomena of non-nominative case subject pronoun use and un-inverted wh- questions.

The Type of Anticoagulant Used for Plasma Collection Affects in Vitro Rhodococcus Equi Assays

Objective: The efficacy of Rhodococcus equi-specific hyperimmune plasma (HIP) is usually evaluated in vitro. Anticoagulants (AC) used for plasma collection can negatively impact bacterial replication but their effect on R. equi growth has not been evaluated. The aim of this study was to establish the effect that AC routinely used in veterinary medicine (ACD, K2EDTA, Li Heparin, and Na Citrate) have on in vitro R. equi growth. To assess this, in vitro assays commonly used to test HIP efficacy (direct effect on microorganism and macrophage infection), were performed using each AC and non-treated bacteria. Results: There was no direct effect of ACD, Li Heparin or Na Citrate on R. equi growth. These AC significantly (p < 0.05) delayed growth for 12 h following opsonization. The number of R. equi colonies after macrophage infection was significantly (p < 0.05) lower 72h post-opsonization with Na Citrate. K2EDTA inhibited the formation of R. equi colonies by 12 h in all the assays. In conclusion, AC should be taken into consideration when interpreting in vitro results as their negative effect on bacterial growth may be mistakenly interpreted as HIP efficacy. ACD and Li Heparin appear more appropriate for the selected assays.

PbCSE1 promotes lignification during stone cell development in pear (Pyrus bretschneideri) fruit

Pear [Pyrus bretschneideri cv. Dangshan Su] fruit quality is not always satisfactory owing to the presence of stone cells, and lignin is the main component of stone cells in pear fruits. Caffeoyl shikimate esterase (CSE) is a key enzyme in the lignin biosynthesis. Although CSE-like genes have been isolated from a variety of plant species, their orthologs are not characterized in pear. In this study, the CSE gene family (PbCSE) from P. bretschneideri was identified. According to the physiological data and quantitative RT-PCR (qRT-PCR), PbCSE1 was associated with lignin deposition and stone cell formation. The overexpression of PbCSE1 increased the lignin content in pear fruits. Relative to wild-type (WT) Arabidopsis, the overexpression of PbCSE1 delayed growth, increased the lignin deposition and lignin content in stems. Simultaneously, the expression of lignin biosynthetic genes were also increased in pear fruits and Arabidopsis. These results demonstrated that PbCSE1 plays an important role in cell lignification and will provide a potential molecular strategy to improve the quality of pear fruits.

Kog1/Raptor mediates metabolic rewiring during nutrient limitation by controlling SNF1/AMPK activity

In changing environments, cells modulate resource budgeting through distinct metabolic routes to control growth. Accordingly, the TORC1 and SNF1/AMPK pathways operate contrastingly in nutrient replete or limited environments to maintain homeostasis. The functions of TORC1 under glucose and amino acid limitation are relatively unknown. We identified a modified form of the yeast TORC1 component Kog1/Raptor, which exhibits delayed growth exclusively during glucose and amino acid limitations. Using this, we found a necessary function for Kog1 in these conditions where TORC1 kinase activity is undetectable. Metabolic flux and transcriptome analysis revealed that Kog1 controls SNF1-dependent carbon flux apportioning between glutamate/amino acid biosynthesis and gluconeogenesis. Kog1 regulates SNF1/AMPK activity and outputs and mediates a rapamycin-independent activation of the SNF1 targets Mig1 and Cat8. This enables effective glucose derepression, gluconeogenesis activation, and carbon allocation through different pathways. Therefore, Kog1 centrally regulates metabolic homeostasis and carbon utilization during nutrient limitation by managing SNF1 activity.