Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan-McDermid Syndrome.

Here we describe a neonate exhibiting hypotonia, macrocephaly, renal cysts, and respiratory failure requiring tracheostomy and ventilator support. Genetic analysis via rapid genome sequencing (rGS) identified a loss on chromosome 4 encompassing polycystin-2 (PKD2) and a loss on chromosome 22 encompassing SH3 and Multiple Ankyrin Repeat Domains 3 (SHANK3), indicative of Phelan-McDermid syndrome. Further analysis via traditional karyotyping, Optical Genome Mapping (OGM), and PacBio long-read sequencing revealed a more complex landscape of chromosomal rearrangements in this individual, including a balanced 3;12 translocation, and an unbalanced 17;22 translocation.

Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing.

PIK3CA-related overgrowth spectrum (PROS) disorders are caused by somatic mosaic variants that result in constitutive activation of the phosphatidylinositol-3-kinase/AKT/mTOR pathway. Promising responses to molecularly targeted therapy have been reported, although identification of an appropriate agent can be hampered by the mosaic nature and corresponding low variant allele frequency of the causal variant. Moreover, our understanding of the molecular consequences of these variants-for example how they affect gene expression profiles-remains limited.

Feasibility of bioplastic production using micro- and macroalgae- A review.

Plastic disposal and their degraded products in the environment are global concern due to its adverse effects and persistence in nature. To overcome plastic pollution and its impacts on environment, a sustainable bioplastic production using renewable feedstock's, such as algae, are envisioned. In this review, the production of polymer precursors such as polylactic acid, polyhydroxybutyrates, polyhydroxyalkanoates, agar, carrageenan and alginate from microalgae and macroalgae through direct conversion and fermentation routes are summarized and discussed.

Expanding the clinical phenotype of internal tandem duplication.

Closed spinal dysraphism (SD) is a type of neural tube defect originating during early embryonic development whereby the neural tissue of the spinal defect remains covered by skin, often coinciding with markers of cutaneous stigmata. It is hypothesized that these events are caused by multifactorial processes, including genetic and environmental causes. We present an infant with a unique congenital midline lesion associated with a closed SD.

Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.

Synpolydactyly 1, also called syndactyly type II (SDTY2), is a genetic limb malformation characterized by polydactyly with syndactyly involving the webbing of the third and fourth fingers, and the fourth and fifth toes. It is caused by heterozygous alterations in HOXD13 with incomplete penetrance and phenotypic variability. In our study, a five-generation family with an SPD phenotype was enrolled in our Rare Disease Genomics Protocol.

Elemental composition, rare earths and minority elements in organic and conventional wines from volcanic areas: The Canary Islands (Spain).

The organic wine market is rapidly growing worldwide, both in terms of production and consumption. However, the scientific literature is not conclusive regarding differences in the elemental composition of wines according to their production method, including both major and trace elements. Minerals can be present in wine as a result of both anthropogenic and environmental factors.

Solar Radiation as an Isolated Environmental Factor in an Experimental Mesocosm Approach for Studying Photosynthetic Acclimation of (Ochrophyta).

Solar radiation effects on the ecophysiology and biochemical responses of the brown macroalga (L.) C. Agardh were evaluated using a mesocosm approach in Southern Chile.

Physicochemical Characterization of Resistant Starch Type-III (RS3) Obtained by Autoclaving Malanga () Flour and Corn Starch.

The feasibility of obtaining resistant starch type III (RS3) from malanga flour (), as an unconventional source of starch, was evaluated using the hydrothermal treatment of autoclaving. The physicochemical characterization of RS3 made from malanga flour was carried out through the evaluation of the chemical composition, color attributes, and thermal properties. In addition, the contents of the total starch, available starch, resistant starch, and retrograded resistant starch were determined by in vitro enzymatic tests.

Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma.

Retinoblastoma is a childhood cancer of the retina involving germline or somatic alterations of the RB Transcriptional Corepressor 1 gene, RB1. Rare cases of sellar-suprasellar region retinoblastoma without evidence of ocular or pineal tumors have been described. A nine-month-old male presented with a sellar-suprasellar region mass.

Chitosan Films Obtained from (Girard) and Its Evaluation on Quality Attributes in Sausages during Storage.

High molecular weight chitosan (≈322 kDa) was obtained from chitin isolated from (Girard) to produced biodegradable films. Their physicochemical, mechanical and water vapor permeability (WVP) properties were compared against commercial chitosan films with different molecular weights. chitosan films (CFBM) exhibited similar physicochemical and mechanical characteristics to those of commercial chitosans.

Characterization of insect chitosan films from Tenebrio molitor and Brachystola magna and its comparison with commercial chitosan of different molecular weights.

Insects are considered as alternative sources of chitosan; however, studies about the functional film-forming properties of insect chitosan are scarce. Insect chitosan films were made from Tenebrio molitor and Brachystola magna and were compared with commercial chitosan of different molecular weights (M). Mechanical properties (tensile strength, TS; elastic modulus, EM; elongation at break, %E), water vapor permeability (WVP) and physicochemical properties were characterized.

Evaluation of Cooking Quality, Nutritional and Texture Characteristics of Pasta Added with Oat Bran and Apple Flour.

This study reports the effect of the addition of oat bran and apple flour on the cooking quality, digestibility, antioxidant, nutritional and texture characteristics of a spaghetti-type pasta. Pasta samples were prepared by substituting 50% of durum wheat semolina with oat bran (OBP) or apple flour (AFP). AFP presented higher cooking loss and water absorption index than the control pasta prepared with 100% durum wheat semolina (WSP).

Photosynthesis and nitrogen uptake of the giant kelp Macrocystis pyrifera (Ochrophyta) grown close to salmon farms.

Finfish aquaculture is an activity that has experienced an explosive global development, but presents several environmental risks, such as high nitrogen outputs with potential eutrophication consequences. Therefore, the integration of seaweed aquaculture with the aim of decreasing nitrogen emissions associated with intensive salmon farming has been proposed as a bioremediation solution. Ecophysiological knowledge about seaweeds cultured close to farming cages is, however, still rudimentary.

Analysis of expressed sequence tags generated from full-length enriched cDNA libraries of melon.

Background: Melon (Cucumis melo), an economically important vegetable crop, belongs to the Cucurbitaceae family which includes several other important crops such as watermelon, cucumber, and pumpkin. It has served as a model system for sex determination and vascular biology studies. However, genomic resources currently available for melon are limited.

GRAZING ON GIANT KELP MICROSCOPIC PHASES AND THE RECRUITMENT SUCCESS OF ANNUAL POPULATIONS OF MACROCYSTIS PYRIFERA (LAMINARIALES, PHAEOPHYTA) IN SOUTHERN CHILE(1).

The giant kelp Macrocystis pyrifera (L.) C. Agardh is widely distributed in the Northern Hemisphere and Southern Hemisphere, yet it exhibits distinct population dynamics at local to regional spatial scales.

Follicular dendritic cell sarcoma/tumor: 2 cases of a rare tumor of difficult clinical and pathological diagnosis.

The follicular dendritic cell sarcoma/tumor is a neoplasic proliferation of fusiform and ovoid cells with characteristic morphology and immunohistochemical pattern. The sarcoma/tumor term is designated due to the variability of the cytological status and, in many cases, its indeterminate clinical course. This report presents the 2 first cases seen at the Hospital General de México, OD (General Hospital of Mexico).