Molecular decoding a meat-like aroma generated from Laetiporus sulphureus-mediated fermentation of onion (Allium cepa L.).

The organoleptic properties of plant-based meat alternatives do not meet consumer expectations due to the lack of characteristic flavors resembling meat. To address this challenge, a fermentation system utilizing Laetiporussulphureus was developed to generate a meat-like and fatty flavor from a vegetable source, onion. By means of multiple stir bar sorptive extraction and gas chromatography-mass spectrometry-olfactometry, an unsaturated aldehyde, (E,Z)-2,4-decadienal, which imparts a tallow-like and fatty odor, and a sulfurous compound benzothiazole, with a broth-like odor were identified, which well contributed to the characteristic odor of the supernatant.

RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant.

Pathogenic variants in TRIO, encoding the guanine nucleotide exchange factor, are associated with two distinct neurodevelopmental delay phenotypes: gain-of-function missense mutations within the spectrin repeats are causative for a severe developmental delay with macrocephaly (MIM: 618825), whereas loss-of-function missense variants in the GEF1 domain and truncating variants throughout the gene lead to a milder developmental delay and microcephaly (MIM: 617061). In three affected family members with mild intellectual disability/NDD and microcephaly, we detected a novel heterozygous TRIO variant at the last coding base of exon 31 (NM_007118.4:c.

Production of a Cheese-Like Aroma via Fermentation of Plant Proteins and Coconut Oil with the Basidiomycetes and .

Cheese is one of the most common dairy products and is characterized by its complex aroma. However, in times of climate change and resource scarcity, the possibility to mimic the characteristic cheese-like aroma from plant-based sources is in demand to offer alternatives to cheese. Accordingly, the production of a natural cheese-like aroma via fermentation of four plant-based proteins and coconut oil with basidiomycetes has been addressed.

Elevated 2-oxoglutarate antagonizes DNA damage responses in cholangiocarcinoma chemotherapy through regulating aspartate beta-hydroxylase.

Cholangiocarcinoma (CCA) is resistant to systemic chemotherapies that kill malignant cells mainly through DNA damage responses (DDRs). Recent studies suggest that the involvement of 2-oxoglutarate (2-OG) dependent dioxygenases in DDRs may be associated with chemoresistance in malignancy, but how 2-OG impacts DDRs in CCA chemotherapy remains elusive. We examined serum 2-OG levels in CCA patients before receiving chemotherapy.

A Simple Step-by-Step Guide to Permanent Punctal Occlusion with the Ophthalmic Burr and Suture Technique.

The medical treatment of dry eye disease usually follows a step-wise approach to achieve clinical improvement, ranging from non-surgical interventions with intensive lubrication to permanent surgical punctal occlusion. While frequent lubrication is essential, the intense regime is often too burdensome and difficult to maintain at the required frequency. Punctal plugs are an invaluable alternative approach, but also have limitations, especially in conscious children, in whom inserting and re-inserting punctum plugs in clinic can be challenging.

Drought re-routes soil microbial carbon metabolism towards emission of volatile metabolites in an artificial tropical rainforest.

Drought impacts on microbial activity can alter soil carbon fate and lead to the loss of stored carbon to the atmosphere as CO and volatile organic compounds (VOCs). Here we examined drought impacts on carbon allocation by soil microbes in the Biosphere 2 artificial tropical rainforest by tracking C from position-specific C-pyruvate into CO and VOCs in parallel with multi-omics. During drought, efflux of C-enriched acetate, acetone and CHO (diacetyl) increased.

MetaboDirect: an analytical pipeline for the processing of FT-ICR MS-based metabolomic data.

Background: Microbiomes are now recognized as the main drivers of ecosystem function ranging from the oceans and soils to humans and bioreactors. However, a grand challenge in microbiome science is to characterize and quantify the chemical currencies of organic matter (i.e.

Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivity.

The clinical diagnosis criteria for CHARGE syndrome have been revised several times in the last 25 years. Variable expressivity and reduced penetrance are known, particularly in mild and familial cases. Therefore, it has been proposed to include the detection of a pathogenic CHD7 variant as a major diagnostic criterion.

Successful Late Treatment of Orbital Infantile Haemangiomas in Two Teenagers with Topical Transcutaneous Timolol Maleate 0.5% Alone.

We previously described the first successful treatment of deep periocular and, subsequently, orbital infantile haemangiomas (IH) with topical transcutaneous timolol maleate 0.5% (TM 0.5%) alone as the first-line treatment in the acute proliferative phase in infancy.

Paediatric orbital lymphoma; a case series and review of the literature.

Objective: To describe a series of paediatric orbital lymphoma patients in a single tertiary referral centre.

Methods: A retrospective case-note search in the Oxford Eye Hospital of all patients under the age of 18 years with orbital lymphoma between 2010 and 2020. Demographic and clinical data were obtained, and a literature review was conducted.

Poly-Alanine-ε-Caprolacton-Methacrylate as Scaffold Material with Tuneable Biomechanical Properties for Osteochondral Implants.

An aging population and injury-related damage of the bone substance lead to an increasing need of innovative materials for the regeneration of osteochondral defects. Biodegradable polymers form the basis for suitable artificial implants intended for bone replacement or bone augmentation. The great advantage of these structures is the site-specific implant design, which leads to a considerable improvement in patient outcomes and significantly reduced post-operative regeneration times.

Elucidating Drought-Tolerance Mechanisms in Plant Roots through H NMR Metabolomics in Parallel with MALDI-MS, and NanoSIMS Imaging Techniques.

As direct mediators between plants and soil, roots play an important role in metabolic responses to environmental stresses such as drought, yet these responses are vastly uncharacterized on a plant-specific level, especially for co-occurring species. Here, we aim to examine the effects of drought on root metabolic profiles and carbon allocation pathways of three tropical rainforest species by combining cutting-edge metabolomic and imaging technologies in an in situ position-specific C-pyruvate root-labeling experiment. Further, washed (rhizosphere-depleted) and unwashed roots were examined to test the impact of microbial presence on root metabolic pathways.

Ectopic vortex veins and varices in Donnai Barrow syndrome.

Background: Donnai Barrow Syndrome (DBS) is a rare, multi-system autosomal recessively inherited disorder of relevance to ophthalmologists. To aim to describe the ocular phenotype using multimodal imaging for two cases of genetically confirmed DBS and compare against the published phenotype.

Materials And Methods: Retrospective case series of two unrelated patients with DBS and review of the literature.

Topical Timolol for Infantile Haemangioma of the Orbit.

Infantile haemangiomas (IHs) are the most common benign tumours of the eyelid and orbits in infancy. Beta-blockers, in the form of oral propranolol, have become first-line treatment in severe cases with functionally significant or disfiguring IH. However, adverse drug reactions of oral propranolol in infants are reported in 1 in 11 and serious or potentially life-threatening systemic side effects in 1 in 38, including dyspnoea, hypotension, hyperkalaemia, hypoglycaemia, and cyanosis, therefore requiring careful and close monitoring during the course of systemic treatment.

Adapted Bag-in-the-Lens Implantation Technique in Children with Congenital Ectopia Lentis.

Background: Subluxation of the crystalline lens in childhood confronts the surgeon with a dilemma: to operate or to wait and see. Surgery is usually not performed when the subluxation is still limited. However, postponing the surgery increases the surgical difficulty as the capsular bag becomes more difficult to use as a means of support for the intraocular lens (IOL).

First Isolation and Structure Elucidation of GDNT-β-Glu - Tetraether Lipid Fragment from Archaeal Sulfolobus Strains.

Due to their special chemical structure, tetraether lipids (TEL) represent essential elements of archaeal membranes, providing these organisms with extraordinary properties. Here we describe the characterization of a newly isolated structural element of the main lipids. The TEL fragment GDNT-β-Glu was isolated from Sulfolobus metallicus and characterized in terms of its chemical structure by NMR- and MS-investigations.

Safe and Effective Treatment of Intracranial Infantile Hemangiomas with Beta-Blockers.

Infantile hemangiomas are common benign vascular tumors but are rarely found in an intracranial location. Our literature review identified 41 reported cases. There is no general consensus on management of these rare lesions and until recently, treatment was limited to surgery or pharmacological management with steroids or interferon.

COVID-19 may affect male fertility but is not sexually transmitted: a systematic review.

Objective: To determine if SARS-CoV-2, which has led to the rapidly spreading COVID-19 global pandemic, is sexually transmitted. Since the putative receptor for the virus is identified in reproductive organs, it is also important to examine if COVID-19 may affect human fertility.

Evidence Review: A systematic review of English publications was conducted up to December 11, 2020 in PubMed, NIH iCite COVID-19 portfolio, Cochrane Library, and Google Scholar databases, searching for SARS-CoV-2 in the testes; seminal, prostatic, and vaginal fluids; and cervical smears.