Atypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22

Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below 3 years of age. The majority of ATRT cases display genetic alterations of SMARCB1 (INI1/hSNF5), a tumor suppressor gene located on 22q11.2. The coexistence of a CNS ATRT in a child with a r(22) is rare. We present a case of a 4-month-old boy with 46,XY,r(22)(p13q13.3), generalized hypotonia and delayed development. High-resolution microarray analysis revealed a 3.5-Mb deletion at 22q13.31q13.33. At 11 months, the patient had an ATRT (5.6 cm×5.0 cm×7.6 cm) in the cerebellar vermis, which was detected in the brain via magnetic resonance imaging

Heating temperature prediction of concrete structure damaged by fire using a Bayesian approach

A fire that occurs in a reinforced concrete (RC) structure accompanies a heating temperature, and this negatively affects the concrete material properties, such as the compressive strength, the bond between cement paste and aggregate, and the cracking and spalling of concrete. To appropriately measure the reduced structural performance and durability of fire-damaged RC structures, it is important to accurately estimate the heating temperature of the structure. However, studies in the literature on RC structures damaged by fire have focused mostly on structural member tests at elevated temperatures to ensure the fire resistance or fire protection material development; studies on estimating the heating temperature are very limited except for the very few existing models. Therefore, in this study, a heating temperature estimation model for a reinforced concrete (RC) structure damaged by fire was developed using a statistical Bayesian parameter estimation approach. For the model development, a total of 77 concrete test specimens were utilized; based on them, a statistically highly accurate model has been developed. The usage of the proposed method in the framework of the 500 ◦C isotherm method in Eurocode 2 has been illustrated through an RC column resistance estimation application

Characterization and source of fluorescent dissolved organic matter in the Western Arctic Ocean: new insights from the 2019 summer study

Increase in river discharge and seasonal primary production and decline in sea ice coverage in the Arctic Ocean in summer can significantly affect the distribution and composition of dissolved organic matter (DOM). This study aimed to enhance the current available knowledge about the impacts of environmental changes on the characteristics of DOM in the rapidly changing Arctic Ocean. Seawater samples were collected from the western Arctic Ocean during the summer of 2019 and analyzed for fluorescent DOM (FDOM), dissolved organic carbon (DOC), and stable oxygen isotope (δ18O) content in conjunction with biophysical properties. We identified two humic-like (C1 and C2) and one protein-like (C3) components using fluorescence excitation-emission matrix coupled with parallel factor (EEM–PARAFAC) analysis. Remarkably high intensities of humic-like FDOM were found in the upper halocline layer (32 < salinity < 33.5 psu, at depths between 50–200 m) with high inorganic nutrient concentrations and low N* values, indicating that the humic-like FDOM was supplied from the shelf sediment. Furthermore, shoaling of the upper halocline layer brought high levels of humic-like FDOM to the euphotic zone, resulting in an increased probability of photodegradation of humic-like FDOM due to exposure to solar radiation in the surface layer. Tryptophan-like FDOM was positively correlated with river water fraction (friver) and riverine DOC but not with chlorophyll-a (Chl-a) and heterotrophic bacterial abundance, indicating river discharge as a potential additional source of tryptophan-like FDOM. The correlation coefficients between tryptophan-like FDOM and river water parameters (friver and riverine DOC) differed across the Chukchi Sea, Chukchi Borderland, and East Siberian Sea, implying that the influence of river discharge on tryptophan-like FDOM is region-dependent. An increase in river discharge in future might lead to a greater supply of tryptophan-like FDOM, impacting the dynamics of DOM cycling in the western Arctic Ocean

Two Novel Mutations in the Aquaporin 2 Gene in a Girl with Congenital Nephrogenic Diabetes Insipidus

Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by insensitivity of the kidney to the antidiuretic effect of vasopressin. There are three inheritance patterns of CNDI: the X-linked recessive form associated with vasopressin V2 receptor gene mutations, and the autosomal recessive and dominant forms associated with aquaporin-2 gene (AQP2) mutations. The evaluation for polyuria and polydipsia in a one-month-old Korean girl revealed no response to vasopressin and confirmed the diagnosis of CNDI. Because the child was female without family history of CNDI, her disease was thought to be an autosomal recessive form. We analyzed the AQP2 gene and detected a compound heterozygous missense point mutation: 70Ala (GCC) to Asp (GAC) in exon 1 inherited from her father and 187Arg (CGC) to His (CAC) in exon 3 inherited from her mother. The first mutation is located within the first NPA motif of the AQP2 molecule and the second one right after the second NPA motif. This is the first report to characterize AQP2 mutations in Korean patients with autosomal recessive CNDI, and expands the spectrum of AQP2 mutations by reporting two novel mutation, 70Ala (GCC) to Asp (GAC) and 187Arg (CGC) to His (CAC)

The ancient phosphatidylinositol 3-kinase signaling system is a master regulator of energy and carbon metabolism in algae

Algae undergo a complete metabolic transformation under stress by arresting cell growth, inducing autophagy and hyperaccumulating biofuel precursors such as triacylglycerols and starch. However, the regulatory mechanisms behind this stress-induced transformation are still unclear. Here, we use biochemical, mutational, and “omics” approaches to demonstrate that PI3K signaling mediates the homeostasis of energy molecules and influences carbon metabolism in algae. In Chlamydomonas reinhardtii, the inhibition and knockdown (KD) of algal class III PI3K led to significantly decreased cell growth, altered cell morphology, and higher lipid and starch contents. Lipid profiling of wild-type and PI3K KD lines showed significantly reduced membrane lipid breakdown under nitrogen starvation (-N) in the KD. RNA-seq and network analyses showed that under -N conditions, the KD line carried out lipogenesis rather than lipid hydrolysis by initiating de novo fatty acid biosynthesis, which was supported by tricarboxylic acid cycle down-regulation and via acetyl-CoA synthesis from glycolysis. Remarkably, autophagic responses did not have primacy over inositide signaling in algae, unlike in mammals and vascular plants. The mutant displayed a fundamental shift in intracellular energy flux, analogous to that in tumor cells. The high free fatty acid levels and reduced mitochondrial ATP generation led to decreased cell viability. These results indicate that the PI3K signal transduction pathway is the metabolic gatekeeper restraining biofuel yields, thus maintaining fitness and viability under stress in algae. This study demonstrates the existence of homeostasis between starch and lipid synthesis controlled by lipid signaling in algae and expands our understanding of such processes, with biotechnological and evolutionary implications.Ministry of Science, ICT and Future Planning 2015M3A6A2065697Ministry of Oceans and Fisheries 2015018

Neonatal Bladder Irritation Is Associated With Vanilloid Receptor TRPV1 Expression in Adult Rats

Purpose To evaluate whether mild chemical irritation of the bladder in neonatal rats is associated with persistent vanilloid receptor transient receptor potential vanilloid subfamily 1 (TRPV1) activity in adult rats. Methods Female Sprague-Dawley rats were used. Ten-day-old rat pups underwent bladder sensitization via intravesical infusion of 0.2% acetic acid in saline with or without prior bladder desensitization with capsaicin. After 8 weeks, 3 groups of rats (control [group 1], bladder sensitization [group 2], and bladder desensitization [group 3]) underwent cystometry. Inflammation of bladder tissue and the expression of TRPV1 in bladder tissue and dorsal root ganglia (DRG) were also evaluated. Results The bladder sensitization group showed more frequent voiding contractions. TRPV1 expression in adult bladder tissue was elevated in group 2. TRPV1 mRNA levels in the bladder and DRG were significantly higher in group 2 than in group 1. Moreover, group 2 had significantly more DRG neurons (identified by uptake of the retrograde label Fast Blue) that exhibited TRPV1 immunoreactivity. Conclusions We found a significant association between neonatal bladder sensitization and persistent TRPV1 activity in adult rats. This is the first study to focus on the underlying pathogenesis of bladder overactivity from childhood to adulthood. Our findings could lead to the development of new strategies for the treatment and prevention of adult urinary symptoms arising from childhood urinary tract dysfunction