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1.
Proc Natl Acad Sci U S A ; 119(11): e2113991119, 2022 03 15.
Article in English | MEDLINE | ID: mdl-35271396

ABSTRACT

SignificanceSonic Hedgehog (Shh) is a key signaling molecule that plays important roles in embryonic patterning, cell differentiation, and organ development. Although fundamentally important, the molecular mechanisms that regulate secretion of newly synthesized Shh are still unclear. Our study reveals a role for the cargo receptor, SURF4, in facilitating export of Shh from the endoplasmic reticulum (ER) via a ER export signal. In addition, our study provides evidence suggesting that proteoglycans promote the dissociation of SURF4 from Shh at the Golgi, suggesting a SURF4-to-proteoglycan relay mechanism. These analyses provide insight into an important question in cell biology: how do cargo receptors capture their clients in one compartment, then disengage at their destination?


Subject(s)
Hedgehog Proteins , Membrane Proteins , Proteoglycans , Endoplasmic Reticulum/metabolism , Hedgehog Proteins/genetics , Hedgehog Proteins/metabolism , Humans , Membrane Proteins/genetics , Membrane Proteins/metabolism , Protein Transport/physiology , Proteoglycans/metabolism
2.
J Clin Immunol ; 44(2): 49, 2024 Jan 17.
Article in English | MEDLINE | ID: mdl-38231350

ABSTRACT

Syndrome of undifferentiated recurrent fever (SURF) is characterized by recurrent fevers, a lack of confirmed molecular diagnosis, and a complete or partial response to colchicine. Despite the clinical similarities to familial Mediterranean fever (FMF), the underlying inflammatory mechanisms of SURF are not yet understood. We here analyzed the in vitro activation of the pyrin inflammasome in a cohort of SURF patients compared to FMF and PFAPA patients. Peripheral blood mononuclear cells (PBMC) were collected from SURF (both colchicine-treated and untreated), FMF, PFAPA patients, and healthy donors. PBMC were stimulated ex vivo with Clostridium difficile toxin A (TcdA) and a PKC inhibitor (UCN-01), in the presence or absence of colchicine. The assembly of the pyrin inflammasome was evaluated by measuring the presence of apoptosis-associated Speck-like protein containing caspase recruitment domain (ASC) specks in monocytes using flow cytometry. IL-1ß secretion was quantified using an ELISA assay. No differences in TcdA-induced activation of pyrin inflammasome were observed among FMF, PFAPA, and healthy donors. Untreated SURF patients showed a reduced response to TcdA, which was normalized after colchicine treatment. In contrast to FMF, SURF patients, similar to PFAPA patients and healthy donors, did not exhibit pyrin inflammasome activation in response to UCN-01-mediated pyrin dephosphorylation. These data demonstrate that in vitro functional analysis of pyrin inflammasome activation can differentiate SURF from FMF and PFAPA patients, suggesting the involvement of the pyrin inflammasome in the pathophysiology of SURF.


Subject(s)
Colchicine , Familial Mediterranean Fever , Humans , Colchicine/pharmacology , Colchicine/therapeutic use , Familial Mediterranean Fever/diagnosis , Familial Mediterranean Fever/drug therapy , Inflammasomes , Leukocytes, Mononuclear , Pyrin/genetics
3.
Conserv Biol ; : e14296, 2024 May 21.
Article in English | MEDLINE | ID: mdl-38770838

ABSTRACT

Marine protected areas (MPAs) globally serve conservation and fisheries management goals, generating positive effects in some marine ecosystems. Surf zones and sandy beaches, critical ecotones bridging land and sea, play a pivotal role in the life cycles of numerous fish species and serve as prime areas for subsistence and recreational fishing. Despite their significance, these areas remain understudied when evaluating the effects of MPAs. We compared surf zone fish assemblages inside and outside MPAs across 3 bioregions in California (USA). Using seines and baited remote underwater videos (BRUVs), we found differences in surf zone fish inside and outside MPAs in one region. Inside south region MPAs, we observed higher abundance (Tukey's honest significant difference [HSD] = 0.83, p = 0.0001) and richness (HSD = 0.22, p = 0.0001) in BRUVs and greater biomass (HSD = 0.32, p = 0.0002) in seine surveys compared with reference sites. Selected live-bearing, fished taxa were positively affected by MPAs. Elasmobranchs displayed greater abundance in BRUV surveys and higher biomass in seine surveys inside south region MPAs (HSD = 0.35, p = 0.0003 and HSD = 0.23, p = 0.008, respectively). Although we observed no overall MPA signal for Embiotocidae, abundances of juvenile and large adult barred surfperch (Amphistichus argenteus), the most abundant fished species, were higher inside MPAs (K-S test D = 0.19, p < 0.0001). Influence of habitat characteristics on MPA performance indicated surf zone width was positively associated with fish abundance and biomass but negatively associated with richness. The south region had the largest positive effect size on all MPA performance metrics. Our findings underscored the variability in species richness and composition across regions and survey methods that significantly affected differences observed inside and outside MPAs. A comprehensive assessment of MPA performance should consider specific taxa, their distribution, and the effects of habitat factors and geography.


Evaluación de la influencia de las áreas marinas protegidas sobre los peces de la zona de rompientes Resumen Las áreas marinas protegidas (AMP) cumplen los objetivos de conservación y manejo de pesquerías a nivel mundial, lo que genera efectos positivos en algunos ecosistemas marinos. Las zonas de rompientes y las playas arenosas, ecotonos importantes que conectan la tierra con el mar, tienen un papel esencial en el ciclo de vida de varios peces y fungen como áreas óptimas para la pesca recreativa y de sustento. A pesar de su importancia, estas áreas están poco estudiadas con respecto a la evaluación del efecto de las AMP. Comparamos la composición de peces del área de rompientes dentro y fuera de las AMP de tres bioregiones de California, EUA. Usamos chinchorros y videos submarinos con carnada (BRUVs) y descubrimos diferencias en los peces de la zona de rompientes dentro y fuera de las AMP en una región. Dentro de las AMP de la región sur observamos una mayor abundancia (diferencia significativa honesta de Tukey [DSH]  =  0.83, p = 0.0001) y riqueza (DSH  =  0.22, p = 0.0001) en los BRUV y una mayor biomasa (DSH  =  0.32, p = 0.0002) en los censos con chinchorro en comparación con los sitios de referencia. Los taxones seleccionados de peces de sustento fueron afectados de manera positiva por las AMP. Los elasmobranquios mostraron una mayor abundancia en los BRUV y una mayor biomasa en los censos con chinchorro dentro de las AMP de la región sur (DSH  =  0.35, p = 0.0003 y DSH  =  0.23, p = 0.008, respectivamente). Aunque no observamos una señal generalizada de las AMP para la familia Embiotocidae, la abundancia de Amphistichus argenteus juveniles y adultos, la especie pescada más abundante, fue mayor dentro de las AMP (prueba K­S D  =  0.19, p < 0.0001). La influencia de las características del hábitat sobre el desempeño de las AMP indicó que el ancho de la zona de rompientes está asociado de forma positiva con la abundancia y biomasa de los peces, pero de forma negativa con la riqueza. La región sur tuvo el mayor tamaño de efecto positivo sobre todas las medidas de desempeño de las AMP. Nuestros hallazgos destacan la variabilidad en la riqueza y composición de especies en todas las regiones y los censos que afectan significativamente las diferencias observadas dentro y fuera de las AMP. Una evaluación completa del desempeño de las AMP debe considerar taxones específicos, su distribución y el efecto de los factores de hábitat y la geografía.

4.
Am J Emerg Med ; 79: 48-51, 2024 05.
Article in English | MEDLINE | ID: mdl-38341994

ABSTRACT

BACKGROUND: A technique called in-water resuscitation (IWR) was devised on a surfboard to ventilate persons who seemingly did not breathe upon a water rescue. Despite IWR still raises uncertainties regarding its applicability, this technique is recommended by the International Liaison Committee for Resuscitation (ILCOR). Thus, this study aimed to evaluate the feasibility of IWR with a rescue board before and during towing and, to compare rescue times and rescue-associated fatigue levels between rescues with rescue breath attempts and without (SR). METHODS: A randomized crossover pilot test was conducted: 1) IWR test with pocket mask and, 2) Conventional SR test. IWR tests were conducted using a Laerdal ResusciAnne manikin (Stavanger, Norway). Three groups of variables were recorded: a) rescue time (in s), b) effective ventilations during rescue, and c) rating of perceived effort (RPE). RESULTS: Focusing on the rescue time, the performance SR was significantly faster than IWR rescue which took 61 s longer to complete the rescue (Z = -2.805; p = 0.005). No significant differences were found between techniques for the RPE (T = -1.890; p = 0.095). In the IWR analysis, lifeguards performed an average of 27 ± 12 rescue breaths. CONCLUSION: The application of IWR on a rescue board is feasible both at the time of rescue and during towing. It shortens the reoxygenation time but delays the arrival time to shore. Both IWR and SR result in similar levels of perceived fatigue.


Subject(s)
Cardiopulmonary Resuscitation , Near Drowning , Humans , Cardiopulmonary Resuscitation/methods , Fatigue/therapy , Near Drowning/therapy , Pilot Projects , Water , Cross-Over Studies
5.
Pediatr Radiol ; 54(10): 1758-1762, 2024 09.
Article in English | MEDLINE | ID: mdl-39066889

ABSTRACT

A 23-month-old boy with poor growth, developmental delay, and hypotonia presented with acute onset of ataxia and fatigue. Magnetic resonance imaging (MRI) of the brain and spinal cord was performed as part of diagnostic work-up. MRI showed bilateral symmetrical lesions in basal ganglia, midbrain, and brainstem consistent with Leigh syndrome. Signal abnormalities were also present within the cervical cord, with enhancement of multiple cranial, spinal, and cauda equina nerve roots. Genetic testing confirmed compound heterozygosity for two pathogenic variants in SURF1 implicated in Leigh syndrome. Whilst nerve root enhancement has been described in other mitochondrial disorders, we believe this is the first published case of both cranial and spinal nerve root enhancement in Leigh syndrome.


Subject(s)
Leigh Disease , Magnetic Resonance Imaging , Membrane Proteins , Mitochondrial Proteins , Humans , Leigh Disease/diagnostic imaging , Leigh Disease/genetics , Male , Infant , Magnetic Resonance Imaging/methods , Membrane Proteins/genetics , Mitochondrial Proteins/genetics
6.
Sensors (Basel) ; 24(11)2024 May 27.
Article in English | MEDLINE | ID: mdl-38894246

ABSTRACT

The popularity of surfing has increased exponentially, reaching its recent debut in the Olympic Games. However, surfing suffers from a relative immature technological market, while in other sports some technologies such as global navigation satellite systems (GNSSs) have become an essential work material for strength and conditioning and head coaches. This article aims to systematically review surfers' time-motion demands based on GNSSs. A systematic review of relevant articles was carried out using five main databases (PubMed, ProQuest Central, SCOPUS, SPORTDiscus, and FECYT (Web of Sciences, CCC, CIDW, KJD, MEDLINE, RSCI, and SCIELO)) until 23 March 2024. From the 238 studies initially found, 9 were included in the qualitative synthesis. In these, GNSS devices were employed with male (n = 143) and female (n = 28) surfers from different levels during competition and training situations. The studies show that the intermittent nature of the sport is evident, with substantial periods spent paddling and waiting punctuated by relatively brief high-intensity efforts when riding waves at high speeds. Notable differences emerged between competition and training demands, suggesting potential mismatches in how athletes currently prepare compared to event requirements. These novel insights allow quantifying surfing's harsh physiological requirements and could guide conditioning practices to better meet the sport's unique characteristics across populations. Therefore, training should emulate the lengthy aerobic capabilities needed for the paddling volumes observed, while also targeting the anaerobic systems to meet the repeated high-intensity surf riding efforts. However, inconsistencies in methods and reporting practices limit direct comparisons and comprehensive profiling of the sport's physical characteristics.


Subject(s)
Geographic Information Systems , Humans , Time and Motion Studies , Female , Male , Athletic Performance/physiology , Athletes , Water Sports/physiology , Sports/physiology
7.
Sensors (Basel) ; 24(5)2024 Feb 23.
Article in English | MEDLINE | ID: mdl-38474985

ABSTRACT

Computer vision in the structural health monitoring (SHM) field has become popular, especially for processing unmanned aerial vehicle (UAV) data, but still has limitations both in experimental testing and in practical applications. Prior works have focused on UAV challenges and opportunities for the vibration-based SHM of buildings or bridges, but practical and methodological gaps exist specifically for linear infrastructure systems such as pipelines. Since they are critical for the transportation of products and the transmission of energy, a feasibility study of UAV-based SHM for linear infrastructures is essential to ensuring their service continuity through an advanced SHM system. Thus, this study proposes a single UAV for the seismic monitoring and safety assessment of linear infrastructures along with their computer vision-aided procedures. The proposed procedures were implemented in a full-scale shake-table test of a natural gas pipeline assembly. The objectives were to explore the UAV potential for the seismic vibration monitoring of linear infrastructures with the aid of several computer vision algorithms and to investigate the impact of parameter selection for each algorithm on the matching accuracy. The procedure starts by adopting the Maximally Stable Extremal Region (MSER) method to extract covariant regions that remain similar through a certain threshold of image series. The feature of interest is then detected, extracted, and matched using the Speeded-Up Robust Features (SURF) and K-nearest Neighbor (KNN) algorithms. The Maximum Sample Consensus (MSAC) algorithm is applied for model fitting by maximizing the likelihood of the solution. The output of each algorithm is examined for correctness in matching pairs and accuracy, which is a highlight of this procedure, as no studies have ever investigated these properties. The raw data are corrected and scaled to generate displacement data. Finally, a structural safety assessment was performed using several system identification models. These procedures were first validated using an aluminum bar placed on an actuator and tested in three harmonic tests, and then an implementation case study on the pipeline shake-table tests was analyzed. The validation tests show good agreement between the UAV data and reference data. The shake-table test results also generate reasonable seismic performance and assess the pipeline seismic safety, demonstrating the feasibility of the proposed procedure and the prospect of UAV-based SHM for linear infrastructure monitoring.

8.
Soins Psychiatr ; 45(352): 32-35, 2024.
Article in French | MEDLINE | ID: mdl-38719358

ABSTRACT

Imagine a dream where ocean waves become allies for the caregiver. This vision took shape in a project begun in 2020 at the Clinique de l'Odet, the addictology department of the public mental health establishment in South Finistère: surf therapy as a tool for addictology care, the ocean as an ecological framework for rehabilitation. In this exceptional adventure, the dream of a care team to support patients' recovery through surfing has become a reality, where every wave is a step towards freedom; every take-off a victory on the road to recovery.


Subject(s)
Substance-Related Disorders , Humans , Substance-Related Disorders/nursing , Substance-Related Disorders/rehabilitation , Substance-Related Disorders/psychology , France , Negotiating/psychology
9.
J Biol Chem ; 298(12): 102687, 2022 12.
Article in English | MEDLINE | ID: mdl-36370847

ABSTRACT

In the conventional secretory pathway, cargo receptors play important roles in exporting newly synthesized secretory proteins from the endoplasmic reticulum (ER). We previously showed that a cargo receptor, surfeit locus protein 4 (SURF4), promotes ER export of a soluble signaling molecule, sonic hedgehog, via recognizing the polybasic residues within its Cardin-Weintraub motif. In addition to sonic hedgehog, we found 30 more secretory proteins containing the polybasic motif (K/R)(K/R)(K/R)XX(K/R)(K/R), but whether SURF4 plays a general role in mediating ER export of these secretory proteins is unclear. Here, we analyzed the trafficking of four of these secretory proteins: desert hedgehog, Indian hedgehog, bone morphogenetic protein 8A (BMP8A), and secreted frizzled-related protein 1 (SFRP1). We found that the polybasic motifs contained in these cargo proteins are important for their ER export. Further analyses indicated that the polybasic motifs of BMP8A and SFRP1 interact with the triacidic motif on the predicted first luminal domain of SURF4. These interactions with SURF4 are essential and sufficient for the ER-to-Golgi trafficking of BMP8A and SFRP1. Moreover, we demonstrated that SURF4 localizes at a subpopulation of ER exit sites to regulate the ER export of its clients. Taken together, these results suggest that SURF4 is recruited to specific ER exit sites and plays a general role in capturing polybasic motif-containing secretory cargo proteins through electrostatic interactions.


Subject(s)
Endoplasmic Reticulum , Hedgehog Proteins , Humans , Bone Morphogenetic Proteins/chemistry , Bone Morphogenetic Proteins/metabolism , Endoplasmic Reticulum/metabolism , Golgi Apparatus/metabolism , Hedgehog Proteins/chemistry , Hedgehog Proteins/metabolism , Intercellular Signaling Peptides and Proteins/chemistry , Intercellular Signaling Peptides and Proteins/metabolism , Membrane Proteins/chemistry , Membrane Proteins/metabolism , Protein Transport , Amino Acid Motifs
10.
Biochem Soc Trans ; 51(3): 971-981, 2023 06 28.
Article in English | MEDLINE | ID: mdl-37334845

ABSTRACT

Proteins that are destined to enter the secretory pathway are synthesized on the rough endoplasmic reticulum (ER) and then translocated into the ER lumen, where they undergo posttranslational modifications, folding, and assembly. After passing a quality control system, the cargo proteins are packaged into coat protein complex II (COPII) vesicles to exit the ER. In metazoans, most COPII subunits have multiple paralogs, enabling COPII vesicles the flexibility to transport a diverse range of cargo. The cytoplasmic domains of transmembrane proteins can interact with SEC24 subunits of COPII to enter the ER exit sites. Some transmembrane proteins may also act as cargo receptors that bind soluble secretory proteins within the ER lumen, enabling them to enter COPII vesicles. The cytoplasmic domains of cargo receptors also contain coat protein complex I binding motifs that allow for their cycling back to the ER after unloading their cargo in the ER-Golgi intermediate compartment and cis-Golgi. Once unloaded, the soluble cargo proteins continue maturation through the Golgi before reaching their final destinations. This review provides an overview of receptor-mediated transport of secretory proteins from the ER to the Golgi, with a focus on the current understanding of two mammalian cargo receptors: the LMAN1-MCFD2 complex and SURF4, and their roles in human health and disease.


Subject(s)
Endoplasmic Reticulum , Golgi Apparatus , Animals , Humans , Endoplasmic Reticulum/metabolism , Golgi Apparatus/metabolism , Carrier Proteins/metabolism , Membrane Proteins/metabolism , Protein Transport , COP-Coated Vesicles/metabolism , Mammals/metabolism
11.
Mar Drugs ; 21(8)2023 Aug 02.
Article in English | MEDLINE | ID: mdl-37623718

ABSTRACT

The marine environment is a rich source of bioactive compounds. Therefore, the sea cucumber was isolated from the Red Sea at the Al-Ain Al-Sokhna coast and it was identified as surf redfish (Actinopyga mauritiana). The aqueous extract of the surf redfish was utilized as an ecofriendly, novel and sustainable approach to fabricate zinc oxide nanoparticles (ZnO-NPs). The biosynthesized ZnO-NPs were physico-chemically characterized and evaluated for their possible antibacterial and insecticidal activities. Additionally, their safety in the non-target organism model (Nile tilapia fish) was also investigated. ZnO-NPs were spherical with an average size of 24.69 ± 11.61 nm and had a peak at 350 nm as shown by TEM and UV-Vis, respectively. XRD analysis indicated a crystalline phase of ZnO-NPs with an average size of 21.7 nm. The FTIR pattern showed biological residues from the surf redfish extract, highlighting their potential role in the biosynthesis process. DLS indicated a negative zeta potential (-19.2 mV) of the ZnO-NPs which is a good preliminary indicator for their stability. ZnO-NPs showed larvicidal activity against mosquito Culex pipiens (LC50 = 15.412 ppm and LC90 = 52.745 ppm) and a potent adulticidal effect to the housefly Musca domestica (LD50 = 21.132 ppm and LD90 = 84.930 ppm). Tested concentrations of ZnO-NPs showed strong activity against the 3rd larval instar. Topical assays revealed dose-dependent adulticidal activity against M. domestica after 24 h of treatment with ZnO-NPs. ZnO-NPs presented a wide antibacterial activity against two fish-pathogen bacteria, Pseudomonas aeruginosa and Aeromonas hydrophila. Histopathological and hematological investigations of the non-target organism, Nile tilapia fish exposed to 75-600 ppm ZnO-NPs provide dose-dependent impacts. Overall, data highlighted the potential applications of surf redfish-mediated ZnO-NPs as an effective and safe way to control mosquitoes, houseflies and fish pathogenic bacteria.


Subject(s)
Cichlids , Culicidae , Nanoparticles , Sea Cucumbers , Zinc Oxide , Animals , Zinc Oxide/pharmacology , Aeromonas hydrophila , Anti-Bacterial Agents/pharmacology
12.
Sensors (Basel) ; 23(15)2023 Aug 03.
Article in English | MEDLINE | ID: mdl-37571712

ABSTRACT

Greenhouse ventilation has always been an important concern for agricultural workers. This paper aims to introduce a low-cost wind speed estimating method based on SURF (Speeded Up Robust Feature) feature matching and the schlieren technique for airflow mixing with large temperature differences and density differences like conditions on the vent of the greenhouse. The fluid motion is directly described by the pixel displacement through the fluid kinematics analysis. Combining the algorithm with the corresponding image morphology analysis and SURF feature matching algorithm, the schlieren image with feature points is used to match the changes in air flow images in adjacent frames to estimate the velocity from pixel change. Through experiments, this method is suitable for the speed estimation of turbulent or disturbed fluid images. When the supply air speed remains constant, the method in this article obtains 760 sets of effective feature matching point groups from 150 frames of video, and approximately 500 sets of effective feature matching point groups are within 0.1 difference of the theoretical dimensionless speed. Under the supply conditions of high-frequency wind speed changes and compared with the digital signal of fan speed and data from wind speed sensors, the trend of wind speed changes is basically in line with the actual changes. The estimation error of wind speed is basically within 10%, except when the wind speed supply suddenly stops or the wind speed is 0 m/s. This method involves the ability to estimate the wind speed of air mixing with different densities, but further research is still needed in terms of statistical methods and experimental equipment.

13.
Sensors (Basel) ; 23(3)2023 Feb 02.
Article in English | MEDLINE | ID: mdl-36772705

ABSTRACT

Recently, content-based image retrieval (CBIR) based on bag-of-visual-words (BoVW) model has been one of the most promising and increasingly active research areas. In this paper, we propose a new CBIR framework based on the visual words fusion of multiple feature descriptors to achieve an improved retrieval performance, where interest points are separately extracted from an image using features from accelerated segment test (FAST) and speeded-up robust features (SURF). The extracted keypoints are then fused together in a single keypoint feature vector and the improved RootSIFT algorithm is applied to describe the region surrounding each keypoint. Afterward, the FeatureWiz algorithm is employed to reduce features and select the best features for the BoVW learning model. To create the codebook, K-means clustering is applied to quantize visual features into a smaller set of visual words. Finally, the feature vectors extracted from the BoVW model are fed into a support vector machines (SVMs) classifier for image retrieval. An inverted index technique based on cosine distance metric is applied to sort the retrieved images to the similarity of the query image. Experiments on three benchmark datasets (Corel-1000, Caltech-10 and Oxford Flower-17) show that the presented CBIR technique can deliver comparable results to other state-of-the-art techniques, by achieving average accuracies of 92.94%, 98.40% and 84.94% on these datasets, respectively.

14.
Int J Mol Sci ; 24(2)2023 Jan 13.
Article in English | MEDLINE | ID: mdl-36675121

ABSTRACT

Leigh syndrome (LS), also known as infantile subacute necrotizing encephalopathy, is the most frequent mitochondrial disorder in children. Recently, more than 80 genes have been associated with LS, which greatly complicates the diagnosis. In this article, we present clinical and molecular findings of 219 patients with LS and give the detailed description of three cases with rare findings in nuclear genes MORC2, NARS2 and VPS13D, demonstrating wide genetic heterogeneity of this mitochondrial disease. The most common cause of LS in Russian patients are pathogenic variants in the SURF1 gene (44.3% of patients). The most frequent pathogenic variant is c.845_846delCT (66.0% of mutant alleles; 128/192), which is also widespread in Eastern Europe. Five main LS genes, SURF1, SCO2, MT-ATP6, MT-ND5 and PDHA1, account for 70% of all LS cases in the Russian Federation. Using next generation sequencing (NGS) technique, we were able to detect pathogenic variants in other nuclear genes: NDUFV1, NDUFS2, NDUFS8, NDUFAF5, NDUFAF6, NDUFA10, SUCLG1, GFM2, COX10, PMPCB, NARS2, PDHB and SLC19A3, including two genes previously associated with Leigh-like phenotypes-MORC2 and VPS13D. We found 49 previously undescribed nucleotide variants, including two deep intronic variants which affect splicing.


Subject(s)
Aspartate-tRNA Ligase , Leigh Disease , Mitochondrial Diseases , Humans , Leigh Disease/diagnosis , Leigh Disease/genetics , Leigh Disease/pathology , Mitochondrial Diseases/genetics , Mutation , Phenotype , Russia , Mitochondrial Proteins/genetics , Membrane Transport Proteins/genetics , Proteins/genetics , Transcription Factors/genetics , Aspartate-tRNA Ligase/genetics
15.
Int J Mol Sci ; 24(2)2023 Jan 09.
Article in English | MEDLINE | ID: mdl-36674792

ABSTRACT

Alzheimer's disease (AD) is known to be caused by amyloid ß-peptide (Aß) misfolded into ß-sheets, but this knowledge has not yet led to treatments to prevent AD. To identify novel molecular players in Aß toxicity, we carried out a genome-wide screen in Saccharomyces cerevisiae, using a library of 5154 gene knock-out strains expressing Aß1-42. We identified 81 mammalian orthologue genes that enhance Aß1-42 toxicity, while 157 were protective. Next, we performed interactome and text-mining studies to increase the number of genes and to identify the main cellular functions affected by Aß oligomers (oAß). We found that the most affected cellular functions were calcium regulation, protein translation and mitochondrial activity. We focused on SURF4, a protein that regulates the store-operated calcium channel (SOCE). An in vitro analysis using human neuroblastoma cells showed that SURF4 silencing induced higher intracellular calcium levels, while its overexpression decreased calcium entry. Furthermore, SURF4 silencing produced a significant reduction in cell death when cells were challenged with oAß1-42, whereas SURF4 overexpression induced Aß1-42 cytotoxicity. In summary, we identified new enhancer and protective activities for Aß toxicity and showed that SURF4 contributes to oAß1-42 neurotoxicity by decreasing SOCE activity.


Subject(s)
Alzheimer Disease , Amyloid beta-Peptides , Animals , Humans , Amyloid beta-Peptides/genetics , Amyloid beta-Peptides/toxicity , Amyloid beta-Peptides/chemistry , Calcium/metabolism , Alzheimer Disease/genetics , Alzheimer Disease/metabolism , Cell Death , Calcium Channels/genetics , Peptide Fragments/genetics , Peptide Fragments/toxicity , Peptide Fragments/metabolism , Mammals/metabolism , Membrane Proteins/genetics , Membrane Proteins/metabolism
16.
J Exp Biol ; 225(20)2022 10 15.
Article in English | MEDLINE | ID: mdl-36305674

ABSTRACT

As diving foragers, sea ducks are vulnerable to underwater anthropogenic activity, including ships, underwater construction, seismic surveys and gillnet fisheries. Bycatch in gillnets is a contributing source of mortality for sea ducks, killing hundreds of thousands of individuals annually. We researched underwater hearing in sea duck species to increase knowledge of underwater avian acoustic sensitivity and to assist with possible development of gillnet bycatch mitigation strategies that include auditory deterrent devices. We used both psychoacoustic and electrophysiological techniques to investigate underwater duck hearing in several species including the long-tailed duck (Clangula hyemalis), surf scoter (Melanitta perspicillata) and common eider (Somateria mollissima). Psychoacoustic results demonstrated that all species tested share a common range of maximum auditory sensitivity of 1.0-3.0 kHz, with the long-tailed ducks and common eiders at the high end of that range (2.96 kHz), and surf scoters at the low end (1.0 kHz). In addition, our electrophysiological results from 4 surf scoters and 2 long-tailed ducks, while only tested at 0.5, 1 and 2 kHz, generally agree with the audiogram shape from our psychoacoustic testing. The results from this study are applicable to the development of effective acoustic deterrent devices or pingers in the 2-3 kHz range to deter sea ducks from anthropogenic threats.


Subject(s)
Ducks , Fisheries , Humans , Animals , Ducks/physiology , Acoustics , Hearing
17.
Sensors (Basel) ; 22(10)2022 May 10.
Article in English | MEDLINE | ID: mdl-35632035

ABSTRACT

Biometrics is the term for measuring human characteristics. If the term is divided into two parts, bio means life, and metric means measurement. The measurement of humans through different computational methods is performed to authorize a person. This measurement can be performed via a single biometric or by using a combination of different biometric traits. The combination of multiple biometrics is termed biometric fusion. It provides a reliable and secure authentication of a person at a higher accuracy. It has been introduced in the UIDIA framework in India (AADHAR: Association for Development and Health Action in Rural) and in different nations to figure out which biometric characteristics are suitable enough to authenticate the human identity. Fusion in biometric frameworks, especially FKP (finger-knuckle print) and iris, demonstrated to be a solid multimodal as a secure framework. The proposed approach demonstrates a proficient and strong multimodal biometric framework that utilizes FKP and iris as biometric modalities for authentication, utilizing scale-invariant feature transform (SIFT) and speeded up robust features (SURF). Log Gabor wavelet is utilized to extricate the iris feature set. From the extracted region, features are computed using principal component analysis (PCA). Both biometric modalities, FKP and iris, are combined at the match score level. The matching is performed using a neuro-fuzzy neural network classifier. The execution and accuracy of the proposed framework are tested on the open database Poly-U, CASIA, and an accuracy of 99.68% is achieved. The accuracy is higher compared to a single biometric. The neuro-fuzzy approach is also tested in comparison to other classifiers, and the accuracy is 98%. Therefore, the fusion mechanism implemented using a neuro-fuzzy classifier provides the best accuracy compared to other classifiers. The framework is implemented in MATLAB 7.10.


Subject(s)
Fingers , Iris , Biometry , Databases, Factual , Humans , Neural Networks, Computer
18.
Malar J ; 20(1): 343, 2021 Aug 16.
Article in English | MEDLINE | ID: mdl-34399778

ABSTRACT

BACKGROUND: A novel variable surface antigens (VSAs), Surface-associated interspersed proteins (SUFRINs), is a protein that is modified on the surface of infected red blood cell (iRBC). Modified proteins on the iRBC surface cause severe malaria, which can lead to death throughout the life cycle of a malaria parasite. Previous study suggested that SURFIN1.1 is an immunogenic membrane-associated protein which was encoded by using the surf1.1 gene expressed during the trophozoite and schizont stages. This study aimed to identify the regions of SURFIN1.1 and investigate the genetic diversity of the extracellular region of the surf1.1 gene. METHODS: A total of 32 blood samples from falciparum malaria cases that were diagnosed in Si Sa Ket Province, Thailand were collected. Plasmodium genomic DNA was extracted, and the extracellular region of surf1.1 gene was amplified using the polymerase chain reaction (PCR). A sequence analysis was then performed to obtain the number of haplotypes (H), the haplotype diversity (Hd), and the segregating sites (S), while the average number of nucleotide differences between two sequences (Pi); in addition, neutrality testing, Tajima's D test, Fu and Li's D* and F* statistics was also performed. RESULTS: From a total of 32 patient-isolated samples, 31 DNA sequences were obtained and analysed for surf1.1 gene extracellular region polymorphism. Researchers observed six distinct haplotypes in the current research area. Haplotype frequencies were 61.3%, 16.2%, and 12.9% for H1, H2, and H3, respectively. The remaining haplotype (H4-H6) frequency was 3.2% for each haplotype. Hd was 0.598 ± 0.089 with the Pi of 0.00381, and S was 15. The most common amino acid polymorphic site was E251Q; other sites included N48D, I49V, E228D, E235S, L265F, K267T, E276Q, and S288F. Fu and Li's D* test value was - 1.24255, Fu and Li's F* test value was - 1.10175, indicating a tendency toward negative balancing selection acting on the surf1.1 N-terminal region. The most polymorphic region was variable 2 (Var2) while cysteine-rich domain (CRD) was conserved in both the amino acid and nucleotide extracellular region of surf1.1 gene. CONCLUSIONS: The Thai surf1.1 N-terminal region was well-conserved with only a few polymorphic sites remaining. In this study, the data regarding current bearing on the polymorphism of extracellular region of surf1.1 gene were reported, which might impact the biological roles of P. falciparum. In addition, may possibly serve as a suitable candidate for future development of SURFIN-based vaccines regarding malaria control.


Subject(s)
Membrane Proteins/genetics , Plasmodium falciparum/genetics , Polymorphism, Genetic , Protozoan Proteins/genetics , Thailand
19.
Stat Med ; 40(4): 897-919, 2021 02 20.
Article in English | MEDLINE | ID: mdl-33219557

ABSTRACT

In this article, we present a new variable selection method for regression and classification purposes, particularly for microbiome analysis. Our method, called subsampling ranking forward selection (SuRF), is based on LASSO penalized regression, subsampling and forward-selection methods. SuRF offers major advantages over existing variable selection methods in terms of both sparsity of selected models and model inference. We provide an R package that can implement our method for generalized linear models. We apply our method to classification problems from microbiome data, using a novel agglomeration approach to deal with the special tree-like correlation structure of the variables. Existing methods arbitrarily choose a taxonomic level a priori before performing the analysis, whereas by combining SuRF with these aggregated variables, we are able to identify the key biomarkers at the appropriate taxonomic level, as suggested by the data. We present simulations in multiple sparse settings to demonstrate that our approach performs better than several other popularly used existing approaches in recovering the true variables. We apply SuRF to two microbiome datasets: one about prediction of pouchitis and another for identifying samples from two healthy individuals. We find that SuRF can provide a better or comparable prediction with other methods while controlling the false positive rate of variable selection.


Subject(s)
Data Analysis , Microbiota , Humans
20.
Sensors (Basel) ; 21(5)2021 Mar 04.
Article in English | MEDLINE | ID: mdl-33806532

ABSTRACT

The surf pop-up is a unique and challenging skill, critical to successful surfing. Hypothesizing that anthropometric characteristics of surfers influence the pop-up performance, we aimed to measure kinematics and ground-reaction forces (GRF) during a simulated pop-up motion, and to relate these variables with anthropometric characteristics. Twenty-three male surfers (age: 28.4 ± 10.1 years old; body mass: 68.3 ± 10.8 kg; height: 1.73 ± 0.07 m; time of practice: 12.4 ± 8.9 years; arm-span: 1.75 ± 8.9 m) perform a simulated pop-up in the laboratory, while GRF and 3D motion-capture data were acquired. The duration of the pop-up was 1.20 ± 0.19 s (60% push-up and 40% reaching/landing phase). During the push-up, the hands were placed 0.46 ± 0.05 m apart and generated a relative total peak-force of 0.99 ± 0.10 N/Weight, with symmetrical impulse of 0.30 ± 0.05 N·s/Weight for the dominant and 0.29 ± 0.07 N·s/Weight for the nondominant hand. Elbow angles were not different during the peak force application (110 ± 18° vs. 112 ± 18°, respectively) of the push-up phase. During the landing phase, the feet were placed 0.63 ± 0.10 m apart and generated a relative peak force of 1.63 ± 0.18 N/Weight. The impact force during landing was applied unevenly between the rear foot (28%) and the front foot (72%). In conclusion, most anthropometric-related variables showed no relationship with performance variables, with the exception of an inverse relationship between muscle mass and pop-up total duration. We also observed no differences in upper- and lower-body kinematics between the dominant vs. nondominant hands and among surfers who preferred a regular vs. "goofy-foot" stance. Finally, the force profiles between hands were similar and symmetric, while the lower extremities during the reaching phase were different, with the front foot applying greater force than that of the rear foot.

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