An unusual case of type I hyperlipidemia - infant with acute encephalopathy, bulging fontanel, vomiting and pink blood: a case report.

Background: Familial chylomicronemia syndrome (FCS) is a rare genetic disorder with heterogeneous presentation, where acute encephalopathy is rarely described in literature. Therefore, initial neurologic symptoms could make the diagnosis and treatment challenging.

Case Presentation: A four-month-old male infant presented with acute encephalopathy, vomiting, bulging fontanel, decreased appetite and failure to thrive.

The brassinosteroid receptor gene safeguards cell-autonomous brassinosteroid signaling across tissues.

Brassinosteroid signaling is essential for plant growth as exemplified by the dwarf phenotype of loss-of-function mutants in (), a ubiquitously expressed Arabidopsis brassinosteroid receptor gene. Complementation of brassinosteroid-blind receptor mutants by expression with various tissue-specific promoters implied that local brassinosteroid signaling may instruct growth non-cell autonomously. Here, we performed such rescues with a panel of receptor variants and promoters, in combination with tissue-specific transgene knockouts.

Converting estimated breeding values from the observed to probability scale for health traits.

Dairy cattle health traits are paramount from a welfare and economic viewpoint, and modern breeding programs therefore prioritize the genetic improvement of these traits. Estimated breeding values for health traits are published as the probability of animals staying healthy. They are obtained using threshold models, which assume that the observed binary phenotype (i.

Base Characteristics, Preservation Methods, and Assessment of the Genetic Diversity of Autochthonous Breeds of Cattle, Sheep and Pigs in Serbia: A Review.

Preserving local autochthonous domestic animal populations and the products derived from them is a crucial aspect of managing human utilization of the biosphere. This management approach aims to ensure sustainable benefits for both present and future generations. The diversity of autochthonous domestic animal populations plays a vital role in the functionality and sustainability of the food production system.

Structure and function of the ABC transporter ABCB19 in brassinosteroid export.

Brassinosteroids are steroidal phytohormones that regulate plant development and physiology, including adaptation to environmental stresses. Brassinosteroids are synthesized in the cell interior but bind receptors at the cell surface, necessitating a yet to be identified export mechanism. Here, we show that a member of the ATP-binding cassette (ABC) transporter superfamily, ABCB19, functions as a brassinosteroid exporter.

Plasmodesmata mediate cell-to-cell transport of brassinosteroid hormones.

Brassinosteroids (BRs) are steroidal phytohormones that are essential for plant growth, development and adaptation to environmental stresses. BRs act in a dose-dependent manner and do not travel over long distances; hence, BR homeostasis maintenance is critical for their function. Biosynthesis of bioactive BRs relies on the cell-to-cell movement of hormone precursors.

Effects of a mastitis J5 bacterin vaccination on the productive performance of dairy cows: An observational study using propensity score matching techniques.

Inferring causal effects between variables when utilizing observational data is challenging due to confounding factors not controlled through a randomized experiment. Propensity score matching can decrease confounding in observational studies and offers insights about potential causal effects of prophylactic management interventions such as vaccinations. The objective of this study was to determine potential causality and impact of vaccination with an Escherichia coli J5 bacterin on the productive performance of dairy cows applying propensity score matching techniques to farm-recorded (e.

Brassinosteroid gene regulatory networks at cellular resolution in the root.

Brassinosteroids are plant steroid hormones that regulate diverse processes, such as cell division and cell elongation, through gene regulatory networks that vary in space and time. By using time series single-cell RNA sequencing to profile brassinosteroid-responsive gene expression specific to different cell types and developmental stages of the root, we identified the elongating cortex as a site where brassinosteroids trigger a shift from proliferation to elongation associated with increased expression of cell wall-related genes. Our analysis revealed () and () as brassinosteroid-responsive transcription factors that regulate cortex cell elongation.

Genetic Parameters for Functional Longevity, Type Traits, and Production in the Serbian Holstein.

In this study, the authors focused on the evaluation of the genetic parameters of longevity, milk yield traits, and type traits in dairy cattle populations in the Republic of Serbia. The total dataset used consisted of production records and pedigree data for 32,512 Holstein cows that calved from 1981 to 2015. The animal model was applied to determine the variance and covariance components and genetic parameters of the analyzed traits by applying the restricted maximum likelihood (REML) approach and using the programs VCE6 and PEST.

BRASSINOSTEROID INSENSITIVE1 internalization can occur independent of ligand binding.

The brassinosteroid (BR) hormone and its plasma membrane (PM) receptor BR INSENSITIVE1 (BRI1) are one of the best-studied receptor-ligand pairs for understanding the interplay between receptor endocytosis and signaling in plants. BR signaling is mainly determined by the PM pool of BRI1, whereas BRI1 endocytosis ensures signal attenuation. As BRs are ubiquitously distributed in the plant, the tools available to study the BRI1 function without interference from endogenous BRs are limited.

Agile Development of Polymer Power Transmission Systems for e-Mobility-A Novel Methodology Based on an e-Bike Drive Case Study.

The market for electric bicycles has grown extremely and developed rapidly in recent years. To enter such a market with a new product, the development process has to be fast, and throughout the process, feedback from future potential customer(s) should be sought in order to achieve the best possible market acceptance. The article presents the design process of a pedelec e-bike central drive system.

Genomic Prediction for Abortion in Lactating Holstein Dairy Cows.

Abortion in dairy cattle causes great economic losses due to reduced animal health, increase in culling rates, reduction in calf production, and milk yield, among others. Although the etiology of abortions can be of various origins, previous research has shown a genetic component. The objectives of this study were to (1) describe the development of the genomic prediction for cow abortions in lactating Holstein dairy cattle based on producer-recorded data and ssGBLUP methodology and (2) evaluate the efficacy of genomic predictions for cow abortions in commercial herds of US Holstein cows using data from herds that do not contribute phenotypic information to the evaluation.

Comprehensive Areal Geometric Quality Characterisation of Injection Moulded Thermoplastic Gears.

Injection moulding is currently the most widely employed production method for polymer gears. Current standardised gear metrology methods, which are based on metal gear inspection procedures, do not provide the key information regarding the geometric stability of injection moulded gears and are insufficient for a thorough gear inspection. The study developed novel areal quality parameters, along with a so-called moulding runout quality parameter, with a focus on the injection moulding method.

Plasma membrane phospholipid signature recruits the plant exocyst complex via the EXO70A1 subunit.

Polarized exocytosis is essential for many vital processes in eukaryotic cells, where secretory vesicles are targeted to distinct plasma membrane domains characterized by their specific lipid-protein composition. Heterooctameric protein complex exocyst facilitates the vesicle tethering to a target membrane and is a principal cell polarity regulator in eukaryotes. The architecture and molecular details of plant exocyst and its membrane recruitment have remained elusive.

Local brassinosteroid biosynthesis enables optimal root growth.

Brassinosteroid (BR) hormones are indispensable for root growth and control both cell division and cell elongation through the establishment of an increasing signalling gradient along the longitudinal root axis. Because of their limited mobility, the importance of BR distribution in achieving a signalling maximum is largely overlooked. Expression pattern analysis of all known BR biosynthetic enzymes revealed that not all cells in the Arabidopsis thaliana root possess full biosynthetic machinery, and that completion of biosynthesis relies on cell-to-cell movement of hormone precursors.

Genomic Prediction for Twin Pregnancies.

Twinning is a multifactorial trait influenced by both genetic and environmental factors that can negatively impact animal welfare and economic sustainability on commercial dairy operations. To date, using genetic selection as a tool for reducing twinning rates on commercial dairies has been proposed, but not yet implemented. In response to this market need, Zoetis (Kalamazoo, MI, USA) has developed a genomic prediction for twin pregnancies, and included it in a comprehensive multitrait selection index.

Indirect genomic predictions for milk yield in crossbred Holstein-Jersey dairy cattle.

The objective of this study was to predict genomic breeding values for milk yield of crossbred dairy cattle under different scenarios using single-step genomic BLUP (ssGBLUP). The data set included 13,880,217 milk yield measurements on 6,830,415 cows. Genotypes of 89,558 Holstein, 40,769 Jersey, and 22,373 Holstein-Jersey crossbred animals were used, of which all Holstein, 9,313 Jersey, and 1,667 crossbred animals had phenotypic records.

Genomic evaluation for wellness traits in US Jersey cattle.

The number of Jersey cows in the United States has been steadily increasing in recent years according to Council on Dairy Cattle Breeding statistics. To help producers reduce the risk of health disorders in their Jersey animals, Zoetis has developed genomic predictions for wellness traits in Jersey cattle using producer-recorded data. The traits included mastitis (MAST), metritis, retained placenta, displaced abomasum (DA), ketosis, lameness, and milk fever in cows and respiratory disease, scours, and calf livability (DEAD) in calves.

Brassinosteroids: Multidimensional Regulators of Plant Growth, Development, and Stress Responses.

Brassinosteroids (BRs) are a group of polyhydroxylated plant steroid hormones that are crucial for many aspects of a plant's life. BRs were originally characterized for their function in cell elongation, but it is becoming clear that they play major roles in plant growth, development, and responses to several stresses such as extreme temperatures and drought. A BR signaling pathway from cell surface receptors to central transcription factors has been well characterized.

Genomic evaluation for calf wellness traits in Holstein cattle.

Reducing calf morbidity and mortality is important for attaining financial sustainability and improving animal welfare on commercial dairy operations. Zoetis (Kalamazoo, MI) has developed genomic predictions for calf wellness traits in Holsteins that include calf respiratory disease (RESP; recorded between 0 and 365 d of age), calf scours (DIAR; recorded between 2 and 50 d of age), and calf livability (DEAD; recorded between 2 and 365 d of age). Phenotype and pedigree data were from commercial dairies and provided directly by producers upon obtaining their permission.

Genomic heritability and genome-wide association analysis of anti-Müllerian hormone in Holstein dairy heifers.

Anti-Müllerian hormone (AMH) is an ovarian growth factor that plays an important role in regulation of ovarian follicle growth. The objectives of this study were to estimate the genomic heritability of AMH and identify genomic regions associated with AMH production in a genome-wide association (GWA) analysis. Concentrations of AMH were determined in 2,905 dairy Holstein heifers genotyped using the Zoetis medium density panel (Zoetis Inclusions, Kalamazoo, MI) with 54,519 single nucleotide polymorphism (SNP) markers remaining after standard genotype quality control edits.

BRexit: Possible Brassinosteroid Export and Transport Routes.

The movement and differential distribution of endogenous plant hormones are the determining factors for many developmental processes. Brassinosteroids (BRs) are a group of plant steroidal hormones that promote growth and development. Although synthesis and signalling of BRs are well described and characterized, the exit mechanism of these compounds from the cell remains uncharacterizd.

EXO70C2 Is a Key Regulatory Factor for Optimal Tip Growth of Pollen.

The exocyst, a eukaryotic tethering complex, coregulates targeted exocytosis as an effector of small GTPases in polarized cell growth. In land plants, several exocyst subunits are encoded by double or triple paralogs, culminating in tens of EXO70 paralogs. Out of 23 EXO70 isoforms, we analyzed seven isoforms expressed in pollen.