bluuebunny/crossref_metadata_2025 huggingface dataset:
Assessment of Hemp Seed Oil Quality Pressed from Fresh and Stored Seeds of Henola Cultivar Using Differential Scanning Calorimetry
Authors: Islam Mahbuba , Rajagukguk Yolanda Victoria , Siger Aleksander , Tomaszewska-Gras Jolanta
Published: December 2022

Cold-pressed hemp (Cannabis Sativa L.) seed oil has become very popular amongst consumers and researchers, due to its manifold application in food and medicine industry. In this study, oils pressed from stored and fresh hemp seeds of the Henola cultivar were analyzed. Determination of the acid value (AV) and color of oil (a* parameter) revealed significant differences between the two groups of oils (fresh and stored seeds) in contrast to the peroxide value (PV), p-anisidine value (p-AV), and fatty acid composition. On the other hand, isothermal and non-isothermal assessments of the thermo-oxidative stability by differential scanning calorimetry (DSC) showed no significant differences in oxidation induction time (OIT) as well as in onset temperature (Ton) between two groups of oils (p > 0.05). The DSC isothermal test (OIT 160) showed significant correlations with mono- and polyunsaturated fatty acids as well as with values of AV and a* (p ≤ 0.05), in contrast to the non-isothermal test, for which correlations were not significant (p > 0.05). However, the best distinction of both groups of oils was obtained analyzing all results together (DSC, fatty acid and tocochromanols composition, color, and oxidative stability results) by principal component analysis (PCA).
Volatile Compositions of Panax ginseng and Panax quinquifolium Grown for Different Cultivation Years
Authors: Kim Yejin , Lee Jung-Woo , Jo Ick-Hyun , Kwon Nayeong , Kim Donghwi , Chung Jong-Wook , Bang Kyong-Hwan , Sung Jeehye
Published: December 2022

The present study examined the volatile profiles of Panax ginseng (Korean ginseng) and Panax quinquefolium (American ginseng) grown for different cultivation years by using HS-SPME/GC-MS and determined the key discriminant volatile compounds by chemometric analysis including principal component analysis (PCA), hierarchical cluster analysis (HCA), and partial least squares-discrimination analysis (PLS-DA). Fifty-six compounds, including forty terpenes, eight alcohols, one alkane, one ketone, and one furan, were identified in the ginseng roots. The chemometric results identified two major clusters of American ginseng and Korean ginseng cultivars with distinct volatile compositions. The volatile compounds in fresh white ginseng roots were affected by the species, but the influence of different cultivation ages was ambiguous. The major volatile components of ginseng roots are terpenes, including monoterpenes and sesquiterpenes. In particular, panaginsene, ginsinsene, α-isocomene, and caryophyllene were predominant in Korean ginseng cultivars, whereas β-farnesene levels were higher in American ginseng. The difference in volatile patterns between Panax ginseng and Panax quinquefolium could be attributed to the composition of sesquiterpenes such as β-panaginsene, ginsinsene, caryophyllene, and β-farnesene.
Development of Non-Targeted Mass Spectrometry Method for Distinguishing Spelt and Wheat
Authors: Nichani Kapil , Uhlig Steffen , Colson Bertrand , Hettwer Karina , Simon Kirsten , Bönick Josephine , Uhlig Carsten , Kemmlein Sabine , Stoyke Manfred , Gowik Petra , Huschek Gerd , Rawel Harshadrai M.
Published: December 2022

Food fraud, even when not in the news, is ubiquitous and demands the development of innovative strategies to combat it. A new non-targeted method (NTM) for distinguishing spelt and wheat is described, which aids in food fraud detection and authenticity testing. A highly resolved fingerprint in the form of spectra is obtained for several cultivars of spelt and wheat using liquid chromatography coupled high-resolution mass spectrometry (LC-HRMS). Convolutional neural network (CNN) models are built using a nested cross validation (NCV) approach by appropriately training them using a calibration set comprising duplicate measurements of eleven cultivars of wheat and spelt, each. The results reveal that the CNNs automatically learn patterns and representations to best discriminate tested samples into spelt or wheat. This is further investigated using an external validation set comprising artificially mixed spectra, samples for processed goods (spelt bread and flour), eleven untypical spelt, and six old wheat cultivars. These cultivars were not part of model building. We introduce a metric called the D score to quantitatively evaluate and compare the classification decisions. Our results demonstrate that NTMs based on NCV and CNNs trained using appropriately chosen spectral data can be reliable enough to be used on a wider range of cultivars and their mixes.
Foodborne Parasites and Their Complex Life Cycles Challenging Food Safety in Different Food Chains
Authors: Gabriël Sarah , Dorny Pierre , Saelens Ganna , Dermauw Veronique
Published: December 2022

Zoonotic foodborne parasites often represent complex, multi host life cycles with parasite stages in the hosts, but also in the environment. This manuscript aims to provide an overview of important zoonotic foodborne parasites, with a focus on the different food chains in which parasite stages may occur. We have chosen some examples of meat-borne parasites occurring in livestock (Taenia spp., Trichinella spp. and Toxoplasma gondii), as well as Fasciola spp., an example of a zoonotic parasite of livestock, but transmitted to humans via contaminated vegetables or water, covering the ‘farm to fork’ food chain; and meat-borne parasites occurring in wildlife (Trichinella spp., Toxoplasma gondii), covering the ‘forest to fork’ food chain. Moreover, fish-borne parasites (Clonorchis spp., Opisthorchis spp. and Anisakidae) covering the ‘pond/ocean/freshwater to fork’ food chain are reviewed. The increased popularity of consumption of raw and ready-to-eat meat, fish and vegetables may pose a risk for consumers, since most post-harvest processing measures do not always guarantee the complete removal of parasite stages or their effective inactivation. We also highlight the impact of increasing contact between wildlife, livestock and humans on food safety. Risk based approaches, and diagnostics and control/prevention tackled from an integrated, multipathogen and multidisciplinary point of view should be considered as well.
Diversity of Filamentous Fungi Associated with Dairy Processing Environments and Spoiled Products in Brazil
Authors: Souza Luana Virgínia , Rodrigues Rafaela da Silva , Fusieger Andressa , da Silva Raiane Rodrigues , de Jesus Silva Sidney Rodrigues , Martins Evandro , Machado Solimar Gonçalves , Caggia Cinzia , Randazzo Cinzia Lucia , de Carvalho Antonio Fernandes
Published: December 2022

Few studies have investigated the diversity of spoilage fungi from the dairy production chain in Brazil, despite their importance as spoilage microorganisms. In the present study, 109 filamentous fungi were isolated from various spoiled dairy products and dairy production environments. The isolates were identified through sequencing of the internal transcribed spacer (ITS) region. In spoiled products, Penicillium and Cladosporium were the most frequent genera of filamentous fungi and were also present in the dairy environment, indicating that they may represent a primary source of contamination. For dairy production environments, the most frequent genera were Cladosporium, Penicillium, Aspergillus, and Nigrospora. Four species (Hypoxylon griseobrunneum, Rhinocladiella similis, Coniochaeta rosae, and Paecilomyces maximus) were identified for the first time in dairy products or in dairy production environment. Phytopathogenic genera were also detected, such as Montagnula, Clonostachys, and Riopa. One species isolated from the dairy production environment is classified as the pathogenic fungi, R. similis. Regarding the phylogeny, 14 different families were observed and most of the fungi belong to the Ascomycota phylum. The understanding of fungal biodiversity in dairy products and environment can support the development of conservation strategies to control food spoilage. This includes the suitable use of preservatives in dairy products, as well as the application of specific cleaning and sanitizing protocols designed for a specific group of target microorganisms.
Composition of Polysaccharides in Hull-Less Barley Sourdough Bread and Their Impact on Physical Properties of Bread
Authors: Reidzane Sanita , Gramatina Ilze , Galoburda Ruta , Komasilovs Vitalijs , Zacepins Aleksejs , Bljahhina Anastassia , Kince Tatjana , Traksmaa Anna , Klava Dace
Published: December 2022

The complex of polysaccharides of the grain transforms during processing and modifies the physical and chemical characteristics of bread. The aim of the research was to characterize the changes of glucans, mannans and fructans in hull-less barley and wholegrain wheat breads fermented with spontaneous hull-less barley sourdough, germinated hull-less barley sourdough and yeast, as well as to analyze the impact of polysaccharides on the physical parameters of bread. By using the barley sourdoughs for wholegrain wheat bread dough fermentation, the specific volume and porosity was reduced; the hardness was not significantly increased, but the content of β-glucans was doubled. Principal component analysis indicates a higher content of β-glucans and a lower content of starch, total glucans, fructans and mannans for hull-less barley breads, but wholegrain wheat breads fermented with sourdoughs have a higher amount of starch, total glucans, fructans and mannans, and a lower content of β-glucans. The composition of polysaccharides was affected by the type of flour and fermentation method used.
Effects of Slaughter Age of Holstein Friesian Bulls on Meat Quality: Chemical Composition, Textural Characteristics, Sensory Attributes and Fatty Acid Profile
Authors: Diler Abdulkerim , Yanar Mete , Özdemir Veysel Fatih , Aydin Recep , Kaynar Özgür , Palangi Valiollah , Lackner Maximilian , Koçyigit Rıdvan
Published: December 2022

This study aimed to investigate the effects of slaughter age (young vs. old), muscle type (Longissimus dorsi (LD), Gluteus medius (GM)) and fat deposits (kidney knob and channel fat, subcutaneous fat, intramuscular fat) on chemical, organoleptic, textural characteristics and fatty acid composition of Holstein Friesian bull meat. For this purpose, the carcasses of 26 Holstein Friesian bulls that had been fattened on the same private farm were assigned to two experimental groups based on their age at slaughter: a young group (YG) (average age: 17.0 ± 1.0 months old) and an old group (OG) (average age: 22.0 ± 1.0 months old). The percentage of crude protein, panel tenderness score, polyunsaturated fatty acid (PUFA) and saturated fatty acid (SFA) content, the PUFA/SFA ratio and the hypocholesterolemic fatty acid (DFA)/hypercholesterolemic fatty acid (OFA) ratio of the bull carcasses decreased significantly with increasing slaughter age. By contrast, the OFA content of the carcasses significantly increased (p < 0.05) with increasing slaughter age. Advanced slaughter age resulted in lower panel tenderness scores. Additionally, the meat of the bulls in the OG was considered to be less healthy because of the less desirable fatty acid composition and nutritional indices, such as the PUFA/SFA and hypocholesterolemic/hypercholesterolemic ratios, compared to the meat from the bulls in the YG. Furthermore, the intramuscular fat and internal fat contained high percentages of PUFA and SFA and high PUFA/SFA and hypocholesterolemic/hypercholesterolemic ratios. Interestingly, the percentage of OFA content in the internal and intramuscular fat tissues decreased with increasing slaughter age. In conclusion, this study provided evidence that slaughter age and muscle and fat type are essential sources of variations in the textural characteristics, sensory panel attributes and fatty acid profile of meat from Holstein Friesian bulls.
Antioxidant Dietary Fiber Sourced from Agroindustrial Byproducts and Its Applications
Authors: Angulo-López Jorge E. , Flores-Gallegos Adriana C. , Ascacio-Valdes Juan A. , Contreras Esquivel Juan C. , Torres-León Cristian , Rúelas-Chácon Xochitl , Aguilar Cristóbal N.
Published: December 2022

Agroindustrial activities generate various residues or byproducts which are inefficiently utilized, impacting the environment and increasing production costs. These byproducts contain significant amounts of bioactive compounds, including dietary fiber with associated phenolic compounds, known as antioxidant dietary fiber (ADF). Phenolic compounds are related to the prevention of diseases related to oxidative stress, such as neurodegenerative and cardiovascular diseases. The mechanism of ADF depends on its chemical structure and the interactions between the dietary fiber and associated phenolic compounds. This work describes ADF, the main byproducts considered sources of ADF, its mechanisms of action, and its potential use in the formulation of foods destined for human consumption. ADF responds to the demand for low-cost, functional ingredients with great health benefits. A higher intake of antioxidant dietary fiber contributes to reducing the risk of diseases such as type II diabetes, colon cancer, obesity, and kidney stones, and has bile-acid retention–excretion, gastrointestinal laxative, hypoglycemic, hypocholesterolemic, prebiotic, and cardioprotective effects. ADF is a functional, sustainable, and profitable ingredient with different applications in agroindustry; its use can improve the technofunctional and nutritional properties of food, helping to close the cycle following the premise of the circular economy.
A Highly Sensitive Method for the Detection of Hydrolyzed Gluten in Beer Samples Using LFIA
Authors: Segura Verónica , Siglez Miguel Ángel , Ruiz-Carnicer Ángela , Martín-Cabrejas Izaskun , van der Hofstadt María , Mellado Encarnación , Comino Isabel , Sousa Carolina
Published: December 2022

Most gluten analysis methods have been developed to detect intact gluten, but they have shown limitations in certain foods and beverages in which gluten proteins are hydrolyzed. Methods based on G12/A1 moAbs detect the sequences of gluten immunogenic peptides (GIP), which are the main contributors to the immune response of celiac disease (CD). Immunogenic sequences with tandem epitopes for G12/A1 have been found in beers with <20 mg/kg gluten, which could be consumed by CD patients according to the Codex Alimentarius. Therefore, an accurate method for the estimation of the immunogenicity of a beer is to use two moAbs that can recognize celiac T cell epitopes comprising most of the immunogenic response. Here, a specific and sensitive method based on G12/A1 LFIA was developed to detect GIP in beers labeled gluten-free or with low gluten content, with an LOD of 0.5 mg/kg. A total of 107 beers were analyzed, of those 6.5% showed levels higher than 20 mg/kg gluten and 29% showed levels above the LOD. In addition, G12/A1 LFIA detected gluten in 15 more beer samples than competitive ELISA with another antibody. Despite their labeling, these beers contained GIP which may cause symptoms and/or intestinal damage in CD patients.
Bioprinted Hydrogels for Fibrosis and Wound Healing: Treatment and Modeling
Authors: Guo Jason L. , Longaker Michael T.
Published: December 2022

Three-dimensional (3D) printing has been used to fabricate biomaterial scaffolds with finely controlled physical architecture and user-defined patterning of biological ligands. Excitingly, recent advances in bioprinting have enabled the development of highly biomimetic hydrogels for the treatment of fibrosis and the promotion of wound healing. Bioprinted hydrogels offer more accurate spatial recapitulation of the biochemical and biophysical cues that inhibit fibrosis and promote tissue regeneration, augmenting the therapeutic potential of hydrogel-based therapies. Accordingly, bioprinted hydrogels have been used for the treatment of fibrosis in a diverse array of tissues and organs, including the skin, heart, and endometrium. Furthermore, bioprinted hydrogels have been utilized for the healing of both acute and chronic wounds, which present unique biological microenvironments. In addition to these therapeutic applications, hydrogel bioprinting has been used to generate in vitro models of fibrosis in a variety of soft tissues such as the skin, heart, and liver, enabling high-throughput drug screening and tissue analysis at relatively low cost. As biological research begins to uncover the spatial biological features that underlie fibrosis and wound healing, bioprinting offers a powerful toolkit to recapitulate spatially defined pro-regenerative and anti-fibrotic cues for an array of translational applications.
Double-Network Hydrogel Films Based on Cellulose Derivatives and κ-Carrageenan with Enhanced Mechanical Strength and Superabsorbent Properties
Authors: Kang Jiseon , Yun Seok Il
Published: December 2022

Covalently crosslinked sodium carboxymethyl cellulose (CMC)–hydroxyethyl cellulose (HEC) hydrogel films were prepared using citric acid (CA) as the crosslinking agent. Thereafter, the physically crosslinked κ-carrageenan (κ-CG) polymer was introduced into the CMC–HEC hydrogel structure, yielding κ-CG/CMC–HEC double network (DN) hydrogels. The κ-CG physical network provided sacrificial bonding, which effectively dissipated the stretching energy, resulting in an increase in the tensile modulus, tensile strength, and fracture energy of the DN hydrogels by 459%, 305%, and 398%, respectively, compared with those of the CMC–HEC single network (SN) hydrogel. The dried hydrogels exhibited excellent water absorbency with a maximum water-absorption capacity of 66 g/g in distilled water. Compared with the dried covalent SN gel, the dried DN hydrogels exhibited enhanced absorbency under load, attributed to their improved mechanical properties. The water-absorption capacities and kinetics were dependent on the size of the dried gel and the pH of the water.
Design and Evaluation of Solid Lipid Nanoparticles Loaded Topical Gels: Repurpose of Fluoxetine in Diabetic Wound Healing
Authors: Fatima Farhat , Aleemuddin Mohammad , Ahmed Mohammed Muqtader , Anwer Md. Khalid , Aldawsari Mohammed F. , Soliman Gamal A. , Mahdi Wael A. , Jafar Mohammed , Hamad Abubaker M. , Alshehri Sultan
Published: December 2022

The current study aimed to prepare a topical gel containing solid lipid nanoparticles (SLNs) encapsulating fluoxetine for diabetic wound healing effects. Fluoxetine (FX) was loaded into SLNs by employing an emulsion solvent evaporation technique using stearic acid as a lipid, and soya lecithin as a surfactant. SLNs were then evaluated for particle size, polydispersity index (PDI), zeta potential (ZP), percent entrapment efficiency (%EE), percent drug loading (%DL), and in vitro drug release. The optimized SLN (FS3) composed of FX (100 mg), SA (150 mg), and SA (100 mg) displayed mean particle size (467.3 ± 2.2nm), PDI (0.435 ± 0.02), ZP (−32.2 ± 4.47mV), EE (95.8 ± 3.38%), and DL (16.4 ± 2.4%). FTIR and DSC studies denote drug-polymer compatibility and the amorphous nature of FX in the SLNs. The drug release at 24 h was found to be (98.89 ± 2.57%) which followed the fickian diffusion mechanism. SLN (FS3) was further loaded into carbopol gel and tested for pH, spreadability, and extrudability of pharmaceutical parameters. In-vitro release of FX from the SLN gel and plain gel was compared, diabetic wound healing gel (DWH) showed sustained drug delivery. An in vivo study was also performed for DWH gel in streptozotocin-induced diabetic rats. Histopathological examination exhibited DWH gel-treated wounds have increased hydroxyproline, cellular proliferation, a rise in the number of blood vessels, and the level of collagen synthesis. Thus, DWH gel-loaded SLN encapsulated with FX could be a potential carrier for the effective treatment and management of diabetic wounds.
The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults
Authors: Zagari Maria Carmela , Chiarello Paola , Iuliano Stefano , D’Antona Lucia , Rocca Valentina , Colao Emma , Perrotti Nicola , Greco Francesca , Iuliano Rodolfo , Aversa Antonio
Published: December 2022

Loss of function mutations in the PHEX gene could determine X-linked dominant hypophosphatemia. This is the most common form of genetic rickets. It is characterized by renal phosphate wasting determining an increase in fibroblast growth factor 23 (FGF-23), growth retard, bone deformities and musculoskeletal manifestations. In recent decades, analysis of the PHEX gene has revealed numerous different mutations. However, no clear genotype-phenotype correlations have been reported in patients with hypophosphatemic rickets (XLH). We report two cases of a 28-year-old-male (patient 1) and a 19-year-old male (patient 2) affected by XLH initially treated with phosphate and 1,25-dihydroxyvitamin–D admitted to the Endocrinology unit because of the persistence of muscle weakness, bone pain and fatigue. After phosphate withdrawal, both patients started therapy with burosumab and symptoms ameliorated in three months. However, patient 1’s biochemical parameters did not improve as expected so we decided to investigate his genetic asset. We herein describe a possible clinical implication for the missense “de novo” mutation, c.250G>C (p.Ala84Pro) in the PHEX gene, reported in the PHEX database and classified as a variant of uncertain significance (VUS). The clinical implication of this mutation on disease burden and quality of life in adults is still under investigation.
A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221)
Authors: Clement Arthur , Dominot Théo , Chammas Jeremy , Montagnon Martine , Delcroix Marie , Pfeffer Jérôme , Dupont Jean , Lebbar Aziza , Clement Patrice , Vialard François
Published: December 2022

Infertility affects about 15% of couples of childbearing age. About half of these cases can be attributed predominantly to a male factor, such as a quantitative or qualitative impairment in spermatogenesis. The first-line genetic screening for non-obstructive azoospermia is limited to karyotyping (to identify chromosome abnormalities) and Y chromosome microdeletions screening, with a view to explaining the spermatogenetic failure and evaluating the likelihood of sperm retrieval in a testicular biopsy. For patients with de la Chapelle syndrome (a 46,XX karyotype with the presence of SRY (Sex determining region Y) gene) and/or Y chromosome microdeletions, or sex chromosome mosaicism, sperm retrieval is usually unsuccessful. Here, we report a patient with de la Chapelle syndrome and a short stature caused by mosaicism and a very rare chromosome rearrangement: mos 46,X,psu dic(X;Y)/45,X/45,psu dic(X;Y). This case indicates that in de la Chapelle syndrome, X- and Y-chromosome breakpoint variability is high.
Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing
Authors: Aristidou Constantia , Theodosiou Athina , Alexandrou Angelos , Papaevripidou Ioannis , Evangelidou Paola , Kosmaidou-Aravidou Zoe , Behjati Farkhondeh , Christophidou-Anastasiadou Violetta , Tanteles George A. , Sismani Carolina
Published: December 2022

Familial apparently balanced translocations (ABTs) are usually not associated with a phenotype; however, rarely, ABTs segregate with discordant phenotypes in family members carrying identical rearrangements. The current study was a follow-up investigation of four familial ABTs, where whole exome sequencing (WES) was implemented as a diagnostic tool to identify the underlying genetic aetiology of the patients’ phenotypes. Data were analysed using an in-house bioinformatics pipeline alongside VarSome Clinical. WES findings were validated with Sanger sequencing, while the impact of splicing and missense variants was assessed by reverse-transcription PCR and in silico tools, respectively. Novel candidate variants were identified in three families. In family 1, it was shown that the de novo pathogenic STXBP1 variant (NM_003165.6:c.1110+2T>G) affected splicing and segregated with the patient’s phenotype. In family 2, a likely pathogenic TUBA1A variant (NM_006009.4:c.875C>T, NP_006000.2:p.(Thr292Ile)) could explain the patient’s symptoms. In family 3, an SCN1A variant of uncertain significance (NM_006920.6:c.5060A>G, NP_008851.3:p.(Glu1687Gly)) required additional evidence to sufficiently support causality. This first report of WES application in familial ABT carriers with discordant phenotypes supported our previous findings describing such rearrangements as coincidental. Thus, WES can be recommended as a complementary test to find the monogenic cause of aberrant phenotypes in familial ABT carriers.
THADA, SDHAF4, and MACF1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes
Authors: Ustianowski Przemysław , Malinowski Damian , Czerewaty Michał , Safranow Krzysztof , Tarnowski Maciej , Dziedziejko Violetta , Pawlik Andrzej
Published: December 2022

Gestational diabetes mellitus (GDM) is a metabolic disorder in pregnant women leading to various complications. Consequently, factors predisposing its development are being sought. Previous studies have shown that the pathogenesis of GDM is similar to that of type 2 diabetes, and it is therefore thought that the two diseases may have a common genetic basis. The aim of this study was to examine the associations between thyroid adenoma-associated (THADA) rs7578597 T>C, succinate dehydrogenase complex assembly factor 4 (SDHAF4) rs1048886 A>G, and microtubule-actin crosslinking factor 1 (MACF1) rs2296172 A>G gene polymorphisms and the risk of GDM development as well as selected clinical parameters in women with GDM. We also examined the expression of these genes in the placenta of women with and without GDM in association with clinical parameters. This case-control study included 272 pregnant women with GDM and 348 pregnant women with normal glucose tolerance. There were no statistically significant differences in the distribution of the THADA rs7578597 T>C, SDHAF4 rs1048886 A>G, and MACF1 rs2296172 A>G gene polymorphisms between pregnant control women and women with GDM. The associations between clinical parameters such as body mass before pregnancy, body mass at birth, body mass increase during pregnancy, BMI before pregnancy, BMI at birth, BMI increase during pregnancy, glycated hemoglobin (HbA1c), daily insulin requirement, childbirth time, and newborn body mass and APGAR score, and the THADA rs7578597 T>C, SDHAF4 rs1048886 A>G, and MACF1 rs2296172 A>G genotypes were statistically non-significant. We only observed lower values of body mass before pregnancy and body mass at birth in women with the SDHAF4 rs1048886 AG genotype in comparison with AA genotype carriers. There was no statistically significant difference in the expression of THADA, SDHAF4, and MACF1 genes in the placenta between women with GDM and healthy women. There were also no statistically significant correlations between THADA, SDHAF4, and MACF1 gene expression in the placenta and clinical parameters. The results of our study suggest that THADA rs7578597 T>C, SDHAF4 rs1048886 A>G, and MACF1 rs2296172 A>G gene polymorphisms are not significant factors associated with GDM onset. In addition, SDHAF4 rs1048886 A>G may be associated with body mass before pregnancy and body mass at birth in pregnant women.
Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations
Authors: Kantaputra Piranit , Dejkhamron Prapai , Sittiwangkul Rekwan , Katanyuwong Kamornwan , Ngamphiw Chumpol , Sonsuwan Nuntigar , Intachai Worrachet , Tongsima Sissades , Beales Philip L. , Buranaphatthana Worakanya
Published: December 2022

Objective: To investigate dental anomalies and the molecular etiology of a patient with Ellis–van Creveld syndrome and two patients with Bardet–Biedl syndrome, two examples of ciliopathies. Patients and Methods: Clinical examination, radiographic evaluation, whole exome sequencing, and Sanger direct sequencing were performed. Results: Patient 1 had Ellis–van Creveld syndrome with delayed dental development or tooth agenesis, and multiple frenula, the feature found only in patients with mutations in ciliary genes. A novel homozygous mutation in EVC2 (c.703G>C; p.Ala235Pro) was identified. Patient 2 had Bardet–Biedl syndrome with a homozygous frameshift mutation (c.389_390delAC; p.Asn130ThrfsTer4) in BBS7. Patient 3 had Bardet–Biedl syndrome and carried a heterozygous mutation (c.389_390delAC; p.Asn130ThrfsTer4) in BBS7 and a homozygous mutation in BBS2 (c.209G>A; p.Ser70Asn). Her clinical findings included global developmental delay, disproportionate short stature, myopia, retinitis pigmentosa, obesity, pyometra with vaginal atresia, bilateral hydronephrosis with ureteropelvic junction obstruction, bilateral genu valgus, post-axial polydactyly feet, and small and thin fingernails and toenails, tooth agenesis, microdontia, taurodontism, and impaired dentin formation. Conclusions: EVC2, BBS2, and BBS7 mutations found in our patients were implicated in malformation syndromes with dental anomalies including tooth agenesis, microdontia, taurodontism, and impaired dentin formation.
Drosophila melanogaster as a Model to Study Fragile X-Associated Disorders
Authors: Trajković Jelena , Makevic Vedrana , Pesic Milica , Pavković-Lučić Sofija , Milojevic Sara , Cvjetkovic Smiljana , Hagerman Randi , Budimirovic Dejan B. , Protic Dragana
Published: December 2022

Fragile X syndrome (FXS) is a global neurodevelopmental disorder caused by the expansion of CGG trinucleotide repeats (≥200) in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene. FXS is the hallmark of Fragile X-associated disorders (FXD) and the most common monogenic cause of inherited intellectual disability and autism spectrum disorder. There are several animal models used to study FXS. In the FXS model of Drosophila, the only ortholog of FMR1, dfmr1, is mutated so that its protein is missing. This model has several relevant phenotypes, including defects in the circadian output pathway, sleep problems, memory deficits in the conditioned courtship and olfactory conditioning paradigms, deficits in social interaction, and deficits in neuronal development. In addition to FXS, a model of another FXD, Fragile X-associated tremor/ataxia syndrome (FXTAS), has also been established in Drosophila. This review summarizes many years of research on FXD in Drosophila models.
Mountain Graticules: Bridging Latitude, Longitude, Altitude, and Historicity to Biocultural Heritage
Authors: Sarmiento Fausto O. , Inaba Nobuko , Iida Yoshihiko , Yoshida Masahito
Published: December 2022

The interdependence of biological and cultural diversity is exemplified by the new conservation paradigm of biocultural heritage. We seek to clarify obsolescent notions of nature, whereby cultural construction and identity markers of mountain communities need to reflect localized, situated, and nuanced understanding about mountainscapes as they are developed, maintained, managed, and contested in spatiality and historicity. Using the nexus of socioecological theory, we question whether a convergent approach could bridge montological knowledge systems of either different equatorial and temperate latitudes, western and eastern longitudes, hills and snow-capped mountain altitudes, or hegemonic and indigenous historicity. Using extensive literature research, intensive reflection, field observation, and critical discourse analysis, we grapple with the Nagoya Protocol of the Convention of Biological Diversity (COP 10, 2010) to elucidate the benefit sharing and linkages of biocultural diversity in tropical and temperate mountain frameworks. The result is a trend of consilience for effective conservation of mountain socioecological systems that reaffirms the transdisciplinary transgression of local knowledge and scientific input to implement the effective strategy of biocultural heritage conservation after the UN Decade of Biological Diversity. By emphasizing regeneration of derelict mountain landscapes, invigorated by empowered local communities, promoted by the Aspen Declaration, the UN Decade of Ecological Restoration, and the UN International Year of Mountain Sustainable Development, montological work on sustainable, regenerative development for 2030 can be expected.
Critical Perspectives on Soil Geochemical Properties Limiting Arsenic Phytoextraction with Hyperaccumulator Pteris vittata
Authors: Matzen Sarick , Pallud Céline
Published: December 2022

Arsenic is a metalloid widely distributed in the environment and of global concern for human health. In a promising breakthrough for sustainable arsenic soil remediation, a fern, Pteris vittata L., was discovered to take up arsenic from the soil and accumulate it in its fronds at up to ~100 times soil concentrations. Successively harvesting the fronds removes, or phytoextracts, arsenic from the soil with potential environmental and economic benefits including low site disturbance and low cost. The practical use of P. vittata for soil remediation faces challenges largely stemming from the complex nature of the soil. Here, we review soil geochemical processes governing the transport of arsenic from soil to the roots of arsenic-hyperaccumulating ferns. We find that phytoextraction is a soil-dependent process, but that key soil attributes including texture are often not reported. We show that rhizosphere processes play a crucial role in arsenic phytoextraction, and that nutrient management is most successful with ecologically based approaches including sparingly soluble nutrient forms. We conclude that a multi-scale ecological approach is needed to validate P. vittata behavior across controlled and field conditions, and arsenic movement between soil, water, and plant compartments. Our synthesis suggests that phytoextraction as currently practiced is limited to soils with low arsenic concentrations and that P. vittata cultivation is climate-limited to a zone smaller than its range as a wild species.
Suicide and Neurotrophin Factors: A Systematic Review of the Correlation between BDNF and GDNF and Self-Killing
Authors: De Simone Stefania , Bosco Maria Antonella , La Russa Raffaele , Vittorio Simona , Di Fazio Nicola , Neri Margherita , Cipolloni Luigi , Baldari Benedetta
Published: December 2022

According to WHO data, suicide is a public health priority. In particular, suicide is the fourth-leading cause of death in young people. Many risk factors of suicide are described, including individual-, relationship-, community-, and societal-linked ones. The leading factor is the diagnosis of mental illness. Nevertheless, not all people who attempt suicide are psychiatric patients; these characteristics help define high-risk populations. There are currently no useful biomarkers to indicate the risk of suicide. In recent years, neurotrophic factors have increasingly become of scientific interest. This review aims to summarize the current scientific knowledge on the correlation between BDNF and GDNF and suicide, to theorize whether neurotrophins could be a reliable marker for an early diagnosis of suicidal risk. The authors conducted a systematic review following PRISMA criteria. They found eight research papers in agreement with the inclusion criteria. According to the results of these studies, there may be a connection between BDNF brain levels and complete suicide, although there are discrepancies. A lack of interest in GDNF may suggest less involvement in the suicidal dynamic. Further studies may provide helpful information to researchers.
The Impact of Frailty and Geriatric Syndromes on the Quality of Life of Older Adults Receiving Home-Based Healthcare: A Cross-Sectional Survey
Authors: Tasioudi Lamprini , Aravantinou-Karlatou Antonia , Karavasileiadou Savvato , Almegewly Wafa Hamad , Androulakis Emmanouil , Kleisiaris Christos
Published: December 2022

Purpose: To identify the effect of frailty and geriatric syndromes on the quality of life (QoL), of older adults receiving home care, taking into consideration their socioeconomic and homebound status, including multi-comorbidities. Patients and Methods: This cross-sectional study enrolled elders aged (≥65) years old, registered members of “Help at Home” programs in the Reference Region of Crete, from March to May 2019. Participants were screened using the WHOQOL-BREF for Quality of Life, geriatric syndromes such as frailty using the SHARE-Frailty Index (SHARE-Fi), the Montreal Cognitive Assessment (MoCA), for cognitive function and the Geriatric Depression Scale (GDS), for the assessment of depression. Results: The mean age of the 301 participants was 78.45 (±7.87) years old. The prevalence of frailty was 38.5%, severe depression 13.6%, cognitive dysfunction 87.8% and severe comorbidity 70.6%. Intriguingly, none of the participants (0%) was identified as free of comorbidity (CCI = 0–1). The overall QoL (ranging from 4–20) of the study participants was 13.24 (±4.09). The bivariate analysis showed that overall QoL significantly differed among older adults with frailty (15.91 vs. 11.56, p < 0.001), cognitive dysfunction (15.42 vs. 12.90, p < 0.001), depression (14.90 vs. 9.31, p < 0.001), and disability in Activities of Daily Living (13.67 vs. 10.67, p = 0.002), compared to non-frail, normal cognition and depression, and independent elders, respectively. Multiple linear regression models revealed that frail and depressive elders reported significantly lower QoL (β = −2.65, p < 0.001 and (β = −5.71, p < 0.001), compared to non-frail and older adults with no depressive symptoms, respectively, despite the fact that this association was not significant for older adults with dementia (β = −2.25, p = 0.159), even after adjusting for potential confounding effects (age, gender, comorbidity, homebound status, etc.). Conclusion: frailty and geriatric syndromes including comorbidities are important risk factors for “poor” QoL among older adults receiving home-based healthcare.
Identifying Coping Strategies Used by Transgender Individuals in Response to Stressors during and after Gender-Affirming Treatments—An Explorative Study
Authors: Oorthuys Anna O. J. , Ross Maeghan , Kreukels Baudewijntje P. C. , Mullender Margriet G. , van de Grift Tim C.
Published: December 2022

Background: Gender-affirming treatments are reported to improve mental health significantly. However, a substantial number of transgender individuals report a relapse in, or persistence of, mental health problems following gender-affirming treatments. This is due to multiple stressors occurring during this period, and in general as a consequence of widespread stigma and minority stress. Aim: The aim of this pilot study was to identify different coping strategies that transgender individuals use in response to stressors prior to and following gender-affirming treatments, as mediator of mental health. Methods: Qualitative interviews were conducted to better understand the treatment outcomes and healthcare experiences of Dutch transgender individuals who had received gender-affirming treatments. Nineteen participants were included, of which 12 identified as (transgender) male, six as (transgender) female and one as transgender. Outcomes: Inductive coding and theory-informed thematic analysis were used to assess stressors (ncodes = 335) and coping strategies (ncodes = 869). Results: Four stressor domains were identified, including lack of support system, stressors related to transition, and physical and psychosocial stressors post-transition. We identified six adaptive coping strategies of which acceptance, help seeking and adaptive cognitions concerning gender and transition were reported most frequently. Of the seven maladaptive strategies that we identified, social isolation and maladaptive cognitions concerning gender and transition were the most-reported maladaptive coping strategies Clinical implications: The results indicated that transgender individuals may experience significant stress, both transgender-specific and non-specific, prior to and following gender-affirming treatments and, as a result, use many coping strategies to adapt. Increased awareness of stressors and (mal)adaptive coping strategies may help to improve mental healthcare and overall support for transgender individuals. Strengths and Limitations: This is the first (pilot) study to provide insight into the range of stressors that transgender individuals experience during and after gender-affirming treatments, as well as the variety of coping strategies that are used to adapt. However, since this was a pilot study assumptions and generalizations of the evidence should be made cautiously. Conclusion: Results of this pilot study showed that transgender individuals may undergo significant stress during and after gender-affirming medical treatment related to the treatments and the social experiences that occur during this period, and as a result, use a range of coping strategies to adapt to the stress.
Virtual Behavioral Intervention to Promote Healthy Lifestyle Behaviors: A Feasibility RCT during COVID-19 Pandemic
Authors: Alothman Shaima A. , Alshehri Mohammed M. , Almasud Alaa A. , Aljubairi Mohanad S. , Alrashed Ibrahim , Abu Shaphe Mohammad , Alghannam Abdullah F.
Published: December 2022

Background: the COVID-19 pandemic has had a substantial impact on human health, affecting many lifestyle behaviors such as physical activity, sedentary behavior, dietary habits and sleep. Purpose: to assess the feasibility of six sessions of a virtual behavioral intervention to promote healthy lifestyle practices during a stay-at-home advisory phase of the COVID-19 pandemic. Methods: A participant-blinded randomized controlled trial was performed through a virtual platform setting. Participants were randomly assigned into two groups. They were assigned to a motivational interviewing (MI) intervention or attention group, with pre- and postintervention assessments. The MI treatment consisted of six sessions (twice each week). The same number of virtual structured sessions were provided for the attention group, and they provided brief advice to promote healthy lifestyles. The study was conducted from April to June 2020. Results: The feasibility outcomes indicated that 39 of the 50 participants (78%) completed the trial. The dropout rate was 21.7% for the attention group and 22.2% for the intervention group. Participating in MI had a significant positive interventional effect on physical activity level, distress and fear of COVID-19. Conclusions: It is feasible to deliver behavioral change interventions virtually. Further, MI can be used as a useful strategy for the favorable promotion of a healthy lifestyle. Trial registration: NCT05392218 (26/05/2022).
Psychometric Properties of the Italian Version of Sensory Processing and Self-Regulation Checklist (SPSRC)
Authors: Purpura Giulia , Lai Cynthia Y. Y. , Previtali Giulia , Gomez Ivan Neil B. , Yung Trevor W. K. , Tagliabue Luca , Cerroni Francesco , Carotenuto Marco , Nacinovich Renata
Published: December 2022

Sensory processing abilities play important roles in child learning, behavioural and emotional regulation, and motor development. Moreover, it was widely demonstrated that numerous children with neurodevelopmental disabilities show differences in sensory processing abilities and self-regulation compared with those of typical children. For these reasons, a complete evaluation of early symptoms is very important, and specific tools are necessary to better understand and recognize these difficulties during childhood. The main aim of this study was to translate, culturally adapt, and validate in a population of Italian typically developing (TD) children the Sensory Processing and Self-Regulation Checklist (SPSRC), a 130-item caregiver-reported checklist, covering children’s sensory processing and self-regulation performance in daily life. Preliminary testing of the SPSRC-IT was carried out in a sample of 312 TD children and 30 children with various developmental disabilities. The findings showed that the SPSRC-IT had high internal consistency, a good discriminant, and structural and criterion validity about the sensory processing and self-regulation abilities of children with and without disabilities. These data provide initial evidence on the reliability and validity of SPSRC-IT, and the information obtained by using the SPSRC-IT may be considered a starting point to widen the current understanding of sensory processing difficulties among children.
Vitamin C as a Potential Interplaying Factor between Obesity and COVID-19 Outcome
Authors: Hafez Wael , Saleh Husam , Abdelshakor Mahmoud , Ahmed Shougyat , Osman Sana , Gador Muneir
Published: December 2022

(1) Background: Obesity is a risk factor for severe COVID-19 outcomes. Obesity can interfere with the action of vitamin C. The study aimed to investigate the association between BMI and severe outcomes of COVID-19 while considering vitamin C levels; (2) Methods: This was a retrospective study of 63 COVID-19 patients treated at the NMC Royal Hospital, United Arab Emirates; (3) Results: There was no significant difference in vitamin C levels among patients in all BMI categories (p > 0.05). The risk of severe COVID-19 significantly increased by 5.4 times among class 1 obese patients compared with normal BMI (OR = 5.40, 95%CI: (1.54–21.05), p = 0.010). Vitamin C did not affect the risk of COVID-19 severity or mortality across BMI categories (p = 0.177, p > 0.05, respectively). The time till viral clearance was significantly different among patients in different BMI categories when vitamin C levels were considered (p = 0.02). Although there was no significant difference in vitamin C levels across BMI categories, there was a significant interaction between vitamin C levels and viral clearance rate in obese patients; (4) Conclusions: Given the safety of vitamin C supplements and our findings, proper vitamin C uptake and supplementation for patients of various BMI levels are encouraged.
Efficacy of Ultrasound-Guided Injection of Botulinum Toxin, Ozone, and Lidocaine in Piriformis Syndrome
Authors: Elsawy Ahmed Gamal Salah , Ameer Abdulnasir Hussin , Gazar Yasser A. , Allam Abdallah El-Sayed , Chan Shun-Ming , Chen Se-Yi , Hou Jin-De , Tai Yu-Ting , Lin Jui-An , Galluccio Felice , Nada Doaa Waseem , Esmat Ahmed
Published: December 2022

Background: Piriformis syndrome (PS) is a painful musculoskeletal condition characterized by a deep gluteal pain that may radiate to the posterior thigh and leg. This study was designed to compare the effectiveness of ozone and BTX to lidocaine injection in treating piriformis syndrome that was resistant to medication and/or physical therapy. Study design: Between November 2018 and August 2019, we involved eighty-four subjects diagnosed with piriformis syndrome in a double-blinded, prospective, randomized comparative study to receive an ultrasound-guided injection of lidocaine (control group), botulinum toxin A, or local ozone (28 patients each group) in the belly of the piriformis muscle. Pain condition evaluated by the visual analog score (VAS) was used as a primary outcome, and the Oswestry Disability Index (ODI) as a secondary outcome, before, at one month, two months, three months, and six months following the injection. Results: The majority (58.3%) of patients were male, while (41.7%) were female. At one month, a highly significant decrease occurred in VAS and ODI in the lidocaine and ozone groups compared to the botulinum toxin group (p < 0.001). At six months, there was a highly significant decrease in VAS and ODI in the botulinum toxin group compared to the lidocaine and ozone groups (p < 0.001). Conclusion: Botulinum toxin may assist in the medium- and long-term management of piriformis syndrome, while lidocaine injection and ozone therapy may help short-term treatment in patients not responding to conservative treatment and physiotherapy.