A New Severe Congenital Neutropenia Syndrome Associated with Autosomal Recessive COPZ1 Mutations.

We have identified a new inherited bone marrow (BM) failure syndrome with severe congenital neutropenia (CN) caused by autosomal recessive mutations in the coatomer protein complex I (COPI) subunit zeta 1 (COPZ1) gene. A stop-codon COPZ1 mutation and a missense mutation were found in three patients from two unrelated families. While two affected siblings with a stop-codon COPZ1 mutation suffered from congenital neutropenia (CN) that involves other hematological lineages, and non-hematological tissues, the patient with a missense COPZ1 mutation had isolated neutropenia.

as a Safe Food: Suppression of Cyanotoxin-Related Genes and Cyanotoxin Production in Its Symbiont, .

The floating freshwater fern is the only plant that retains an endocyanobiont, (aka ), during its sexual and asexual reproduction. The increased interest in as a potential source of food and its unique evolutionary history have raised questions about its cyanotoxin content and genome. Cyanotoxins are potent toxins synthesized by cyanobacteria which have an anti-herbivore effect but have also been linked to neurodegenerative disorders including Alzheimer's and Parkinson's diseases, liver and kidney failure, muscle paralysis, and other severe health issues.

New Report of Cyanobacteria and Cyanotoxins in El Pañe Reservoir: A Threat for Water Quality in High-Andean Sources from PERU.

Cyanobacteria are cosmopolitan organisms; nonetheless, climate change and eutrophication are increasing the occurrence of cyanobacteria blooms (cyanoblooms), thereby raising the risk of cyanotoxins in water sources used for drinking, agriculture, and livestock. This study aimed to determine the presence of cyanobacteria, including toxigenic cyanobacteria and the occurrence of cyanotoxins in the El Pañe reservoir located in the high-Andean region, Arequipa, Peru, to support water quality management. The study included morphological observation of cyanobacteria, molecular determination of cyanobacteria (16S rRNA analysis), and analysis of cyanotoxins encoding genes ( for microcystins, for cylindrospermopsins, for saxitoxins, and for anatoxins).

Toxic and non-toxic cyanobacterial biomass as a resource for sustainable agriculture: A lettuce cultivation experiment.

Cyanobacteria represent a promising resource for sustainable agriculture, as they have demonstrated the ability to restore soil fertility even after death and decay. However, several cyanobacteria can also release secondary metabolites, such as cyanotoxins, which may compromise the quality of agricultural products and pose a potential risk to human health. Depending on the concentration of exposure, few studies reported deleterious effects on plant species when irrigated with cylindrospermopsin (CYN) contaminated water, impairing plant growth and leading to food product contamination, while other studies show promoting effects on plant yield.

Spontaneous Peritoneal Hemorrhage and Anemia: A Rare Case Report of Immune Thrombocytopenic Purpura.

Immune thrombocytopenia (ITP) is characterized by isolated thrombocytopenia manifesting with mucocutaneous bleeding symptoms, generally mild to moderate. The presence of severe symptoms or complications is rare but can be life-threatening and should be promptly diagnosed and treated. We present the case of a 14-year-old female presenting with abdominal tenderness and signs of peritoneal irritation and found to exhibit petechial rash in the buccal mucosa, scant petechiae, and superficial ecchymosis in both arms and legs on physical examination.

Musculoskeletal symptoms among workers of the pulp and paper industry: the contribution of age, gender, body mass index and physical activity level.

. This study aimed to investigate 12-month and 7-day prevalence of musculoskeletal symptoms among workers of the pulp and paper industry, and assess the contribution of age, gender, body mass index (BMI) and physical activity (PA). .

Inter-observational analysis of computed tomography parameters to predict nonobvious posterior ligament complex injury in neurologically intact patients with thoracolumbar trauma.

Introduction: Assessing the integrity of the posterior ligament complex (PLC), as a key element in the characterization of an unstable Thoracolumbar fracture (TLF), is challenging, but crucial in the choice of treatment.

Research Question: How to create a reproducible score using combined parameters of Computed Tomography (CT) to predict nonobvious PLC injury. How CT parameters relate with PLC status.

Associations between day and night-shifts, work-related musculoskeletal symptoms and absenteeism in the manufacturing industry.

. Associations between shift-work, musculoskeletal symptoms and absenteeism are poorly investigated in the manufacturing industry. This study aimed to investigate associations between working schedule, musculoskeletal symptoms and days of absenteeism among pulp and paper industry workers.

The Effect of Muscle Fatigue on the Knee Proprioception: A Systematic Review.

This study aimed to systematically review and summarise the evidence about the effect of muscle fatigue on the knee proprioception of trained and non-trained individuals. A search in PubMed, Scopus, Web of Science and EBSCO databases and Google Scholar was conducted using the expression: "fatigue" AND ("proprioception" OR "position sense" OR "repositioning" OR "kinesthesia" OR "detection of passive motion" OR "force sense" OR "sense of resistance") AND "knee". Forty-two studies were included.

Identification and structural characterization of a novel (+)-catechin-caffeic acid adduct present in wines.

A new compound with a molecular ion mass of m/z 467 in the negative ion mode was found to occur in a white wine aged 30 months in bottle. In this latter, fragment ions compatible with the loss of a carboxylic acid (-44 a.m.

Tracing the fate of microcystins from irrigation water to food chains: Studies with Fragaria vulgaris and Meriones shawi.

Microcystins (MCs) are cyanobacterial toxins that can negatively impact human and animal health. This study investigated the bioaccumulation, transfer, depuration, and health risks of MCs in strawberry plants (Fragaria vulgaris) and Meriones shawi animals. The plants were irrigated with 1, 5, 10, and 20 μg/L MCs for 60 days (bioaccumulation phase) and then with clean water for 30 days (depuration phase).

Bioprospecting for industrially relevant exopolysaccharide-producing cyanobacteria under Portuguese simulated climate.

Cyanobacterial exopolysaccharides (EPS) are potential candidates for the production of sustainable biopolymers. Although the bioactive and physicochemical properties of cyanobacterial-based EPS are attractive, their commercial exploitation is limited by the high production costs. Bioprospecting and characterizing novel EPS-producing strains for industrially relevant conditions is key to facilitate their implementation in various biotechnological applications and fields.

Combined Neonatal Alloimmune Neutropenia and Thrombocytopenia in Dizygotic Twins Conceived After Oocyte Donation.

Neonatal alloimmune thrombocytopenia (NAIT) and neonatal alloimmune neutropenia (NAIN) may have severe consequences in the neonatal period. We report two dizygotic twins conceived after donated oocytes, suffering NAIT and NAIN in the context of alloantibodies to human platelet antigens (anti-HPA-5b) and human leukocyte antigens (anti-HLA class I). Genotyping demonstrated paternal homozygosity for HPA-5a, while the neonates were heterozygous for HPA-5b.

Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome.

WHIM syndrome is an inherited immune disorder caused by an autosomal dominant heterozygous mutation in CXCR4. The disease is characterized by neutropenia/leukopenia (secondary to retention of mature neutrophils in bone marrow), recurrent bacterial infections, treatment-refractory warts, and hypogammaglobulinemia. All mutations reported in WHIM patients lead to the truncations in the C-terminal domain of CXCR4, R334X being the most frequent.

Using Social Media Categorical Reactions as a Gateway to Identify Hate Speech in COVID-19 News.

The spread of COVID-19 news on social media provided a particularly prolific ground for emotional commotion, disinformation and hate speech, as uncertainty and fear grew by the day. In this paper, we examine the media coverage of the COVID-19 outburst in Portugal (March-May 2020), the subsequent emotional engagement of audiences and the entropy-based emotional controversy generated as a gateway to detect the presence of hate speech, using computer-assisted qualitative data analysis (CAQDAS) embedded in a cross-sectional descriptive methodology. Our results reveal that negative and volatile categorical emotions ("Angry", "Haha" and "Wow") serve as main engines for controversy, and that controversial news have the highest sharing ratio.

The Impact of Storage Conditions and Bottle Orientation on the Evolution of Phenolic and Volatile Compounds of Vintage Port Wine.

This work evaluates the influence of the cellar conditions and bottle orientation, on the phenolic and volatile composition of a Vintage Port wine, sealed with natural cork stoppers, for 44 months post-bottling. The storage was performed in two different cellars, namely a cellar A with controlled temperature and humidity, and a cellar B, representing a traditional cellar, with uncontrolled temperature and humidity. The impact of bottle orientation was studied in cellar A, where the bottles were stored in horizontal and vertical positions.

Cork, a Natural Choice to Wine?

This review presents the most recent data on the state-of-the-art of the main compounds present in cork, their interaction with wine, and the impact that natural stoppers may have on wines' physical-chemical and sensory properties. According to the recent scientific literature, the chemical composition of cork and the scientific relevance of the compounds extract from cork to wine over time are reviewed. Furthermore, the effect of cork compounds transfer into wines during post-bottling is also discussed, as well as their impact on the organoleptic (colour and taste) of wines.

The effectiveness of Sustained Natural Apophyseal Glide on Flexion Rotation Test, pain intensity, and functionality in subjects with Cervicogenic Headache: A Systematic Review of Randomized Trials.

Objective: To determine the effect of sustained natural apophyseal glide (SNAG) on Flexion Rotation Test, pain intensity, and functionality in subjects with Cervicogenic Headache (CH).

Methods: The research was conducted on five computerized databases PubMed/Medline, Web of Science, PEDro, Lilacs, and Cochrane Library (CENTRAL), using the keywords combination: (sustained natural apophyseal glide OR SNAG OR joint mobilization OR Mulligan) AND (cervicogenic headache) according to PRISMA guidelines. The methodological quality of the included studies was analyzed using the Physiotherapy Evidence Database (PEDro) scale.

Interaction between salivary proteins and cork phenolic compounds able to migrate to wine model solutions.

This work reports the study of the interaction of human salivary proteins (SP) with phenolic compounds that migrate from cork stoppers to wine. This study yields valuable data to understand the influence that these compounds may have on the sensory perception of wine from an astringency perspective. For that, three cork fractions containing the phenolic compounds that migrate in greater amounts from cork to model wine solutions were selected.

Cyanotoxin Screening in BACA Culture Collection: Identification of New Cylindrospermopsin Producing Cyanobacteria.

Microcystins (MCs), Saxitoxins (STXs), and Cylindrospermopsins (CYNs) are some of the more well-known cyanotoxins. Taking into consideration the impacts of cyanotoxins, many studies have focused on the identification of unknown cyanotoxin(s)-producing strains. This study aimed to screen strains from the Azorean Bank of Algae and Cyanobacteria (BACA) for MCs, STX, and CYN production.

On the Limits of Anthocyanins Co-Pigmentation Models and Respective Equations.

Anthocyanins co-pigmentation models with application on 1:1 complexes were revisited, and their limitations were critically commented. The flavylium multistate of species is dramatically simplified to a single acid-base equilibrium between flavylium cation and its conjugated base CB, equal to the sum of quinoidal base, hemiketal, and and -chalcones. Bearing this, a new equation that simultaneously allows calculation of the co-pigmentation constant with flavylium cation (+) and with its conjugated base CB () was deduced.