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1.
J Fish Dis ; : e14012, 2024 Sep 06.
Article in English | MEDLINE | ID: mdl-39238422

ABSTRACT

The common carp is one of the most economically valuable freshwater fish worldwide and its aquaculture can be severely affected by the koi sleepy disease (KSD)/carp edema virus disease (CEVD). This study explores a natural outbreak of CEVD in a pond containing both clinically healthy and diseased fish of various origins exposed to the virus. We investigated mRNA expression of genes associated with known antiviral immune mechanisms, such as type I interferon signalling and cell-mediated cytotoxicity, and performed a comprehensive protein expression analysis to highlight differences between the two groups in various organs. Significant differences in expression profiles of common carp with and without clinical signs were found to be strongly dependent on the organ from which the sample originated. Components of the complement cascade, including various C3 proteins, exhibited upregulation only in less affected organs, specifically the head kidney and spleen. Other complement proteins such as B/C2 and C9 showed upregulation in the kidney, spleen, and gills but not in the skin. Conversely, lysozymes C and G, were observed to be upregulated in the most affected organs of the skin and gills. This study submits the first description of the immune system related proteome using a mass spectrometry on the samples isolated from fish infected with CEV. It also offers a unique comparison of immune reaction of CEV infected and healthy fish under an infectious pressure.

2.
Sci Rep ; 14(1): 20778, 2024 Sep 06.
Article in English | MEDLINE | ID: mdl-39242704

ABSTRACT

Fine-grained management of rice fields can enhance the yield and quality of rice crops. Challenges in achieving fine classification include interference from similar vegetation, the irregularity of natural field shapes, and complex scale variations. This paper introduces Rice Attention Cascade Network (RACNet), for the fine classification of rice fields in high-resolution satellite remote sensing imagery. The network employs the Hybrid Task Cascade network as the base framework and uses spectral and indices mixed multimodal data as input to reinforce the feature differentiation of similar vegetation. Initially, a Channel Attention Deformable-ResNet (CAD-ResNet) was designed to enhance the feature representation of rice on different channels. Deformable convolution improves the ability of CAD-ResNet to capture irregular field shapes. Then, to address the issue of complex scale changes, the multi-scale features extracted by the CAD-ResNet are progressively fused using an Asymptotic Feature Pyramid, reducing the loss of scale information between non-adjacent layers. Experiments on the Meishan rice dataset show that the proposed method is capable of accurate instance segmentation for fragmented or irregularly shaped rice fields. The evaluation metric AP50 of RACNet reaches 50.8%.

4.
JACC Adv ; 3(9): 101198, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39238848

ABSTRACT

Background: Relatives of probands diagnosed with familial hypercholesterolemia (FH) should undergo cascade testing for FH. Objectives: The purpose of this study was to evaluate probands' choices of innovative strategies to communicate their FH result with relatives and facilitate cascade testing uptake. Methods: Probands with an FH genetic result from the MyCode Community Health Initiative could choose to share their FH result with adult blood relatives via the Family and Healthcare Professional Packet (packet), family sharing and cascade chatbots (chatbot), and/or FH Outreach and Support Program (direct contact). Cascade testing uptake was measured as reported completion of genetic or cholesterol testing. Generalized estimating equations models were used to identify factors associated with testing. Results: One hundred seventy five probands received an FH result, median age was 58.9 (IQR: 44.9-69.3), and 58.9% were female. Probands shared information about 1,915 adult and 163 minor relatives (11.9 relatives per proband). Seventy percent of probands (121/175) selected at least one strategy for at least one adult relative. An average of 1.2 strategies was selected per adult relative. Cascade testing was completed for 26.6% (144/541) of adults with at least one strategy selected, 2.4% (33/1,374) of adults without a strategy selected, and 25.2% (41/163) of minor relatives. Factors associated with increased cascade testing uptake were selection of at least one strategy (6.32 higher odds), specifically, selection of direct contact (16.78 higher odds). Conclusions: Strategies implemented improved FH cascade testing uptake compared to previous estimates and in families where no strategy was selected. Overall uptake remains insufficient, which can be attributed to probands reluctance to select a strategy for many relatives.

5.
Biochemistry (Mosc) ; 89(8): 1519-1530, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39245459

ABSTRACT

The lipoxygenase cascade in plants is a source of oxylipins (oxidized fatty acid derivatives), which play an important role in regulatory processes and formation of plant response to stress factors. Some of the most common enzymes of the lipoxygenase cascade are 13-specific hydroperoxide lyases (HPLs, also called hemiacetal synthases) of the CYP74B subfamily. In this work, we identified and cloned the CYP74B34 gene from carrot (Daucus carota L.) and described the biochemical properties of the corresponding recombinant enzyme. The CYP74B34 enzyme was active towards 9- and 13-hydroperoxides of linoleic (9-HPOD and 13-HPOD, respectively) and α-linolenic (9-HPOT and 13-HPOT, respectively) acids. CYP74B34 specifically converted 9-HPOT and 13-HPOT into aldo acids (HPL products). The transformation of 13-HPOD led to the formation of aldo acids and epoxyalcohols [products of epoxyalcohol synthase (EAS) activity] as major and minor products, respectively. At the same time, conversion of 9-HPOD resulted in the formation of epoxyalcohols as the main products and aldo acids as the minor ones. Therefore, CYP74B34 is the first enzyme with a double HPL/EAS activity described in carrot. The presence of these catalytic activities was confirmed by analysis of the oxylipin profiles for the roots from young seedlings and mature plants. In addition, we substituted amino acid residues in one of the catalytically essential sites of the CYP74B34 and CYP74B33 proteins and investigated the properties of the obtained mutant enzymes.


Subject(s)
Aldehyde-Lyases , Cytochrome P-450 Enzyme System , Daucus carota , Plant Proteins , Daucus carota/enzymology , Daucus carota/genetics , Daucus carota/metabolism , Aldehyde-Lyases/metabolism , Aldehyde-Lyases/genetics , Aldehyde-Lyases/chemistry , Cytochrome P-450 Enzyme System/metabolism , Cytochrome P-450 Enzyme System/genetics , Cytochrome P-450 Enzyme System/chemistry , Plant Proteins/metabolism , Plant Proteins/genetics , Plant Proteins/chemistry , Recombinant Proteins/metabolism , Recombinant Proteins/genetics , Recombinant Proteins/chemistry , Lipid Peroxides/metabolism , Substrate Specificity , Amino Acid Sequence , Linoleic Acids
6.
Carbohydr Polym ; 346: 122609, 2024 Dec 15.
Article in English | MEDLINE | ID: mdl-39245522

ABSTRACT

Rational designs of polysaccharide-based hydrogels with organ-like three-dimensional architecture provide a great possibility for addressing the shortages of allograft tissues and organs. However, spatial-temporal control over structure in bulk hydrogel and acquire satisfied mechanical properties remain an intrinsic challenge to achieve. Here, we show how electric-field assisted molecular self-assembly can be coupled to a directional reaction-diffusion (RD) process to produce macroscopic hydrogel in a controllable manner. The electrical energy input was not only to generate complex molecule gradients and initiate the molecular self-assembly, but also to guide/facilitate the RD processes for the gel rapid growth via a cascade construction interaction. The hydrogel mechanical properties can be tuned and enhanced by using an interpenetrating biopolymer network and multiple ionic crosslinkers, leading to a wide-range of mechanical modulus to match with biological organs or tissues. We demonstrate diverse 3D macroscopic hydrogels can be easily prepared via field-assisted directional reaction-diffusion and specific joint interactions. The humility-triggered dissipation of functional gradients and antibacterial performance confirm that the hydrogels can serve as an optically variable soft device for wound management. Therefore, this work provides a general approach toward the rational fabrication of soft hydrogels with controlled architectures and functionality for advanced biomedical systems.

7.
APMIS ; 2024 Sep 09.
Article in English | MEDLINE | ID: mdl-39246244

ABSTRACT

Bacterial biofilm plays a vital role in influencing several diseases, infections, metabolic pathways and communication channels. Biofilm influence over colorectal cancer (CRC) has been a booming area of research interest. The virulence factors of bacterial pathogen have a high tendency to induce metabolic pathway to accelerate CRC. The bacterial species biofilm may induce cancer through regulating the major signalling pathways responsible for cell proliferation, differentiation, survival and growth. Activation of cancer signals may get initiated from the chronic infections through bacterial biofilm species. Integrin mediates in the activation of major pathway promoting cancer. Integrin-mediated signals are expected to be greatly influenced by biofilm. Integrins are identified as an important dimer, whose dysfunction may alter the signalling cascade specially focusing on TGF-ß, PI3K/Akt/mToR, MAPK and Wnt pathway. Along with biofilm shield, the tumour gains greater resistance from radiation, chemotherapy and also from other antibiotics. The biofilm barrier is known to cause challenges for CRC patients undergoing treatment.

8.
Gynecol Oncol ; 190: 250-254, 2024 Sep 09.
Article in English | MEDLINE | ID: mdl-39260121

ABSTRACT

OBJECTIVE: Cascade testing for hereditary cancer syndromes allows relatives to estimate cancer risk and pursue prevention and early detection strategies. The current paradigm relies on patient coordinated care, resulting in only one-third of relatives successfully completing testing. Studies suggest that team-based approaches, where clinicians facilitate testing, can increase uptake. As institutions consider implementing such programs, understanding patient characteristics associated with interest is crucial for resource allocation. We aim to assess interest in clinician-facilitated testing and evaluate barriers. METHODS: Patients with cancer-associated pathogenic variants seen at a gynecologic oncology clinic were offered clinician-facilitated cascade testing. Patient interest and demographic variables were recorded and patients that declined were interviewed regarding the decision. RESULTS: From 11/2023-4/2024, 139 patients were offered clinician-facilitated cascade testing. Median patient age was 43 years (IQR 17), 97 (69.8 %) self-identified as White and 101 (72.7 %) as non-Hispanic. Fifty-six (40.3 %) patients harbored a BRCA1 pathogenic variant, 37 (26.6 %) BRCA2, and 46 (33.1 %) other cancer-associated genes. Fifty-seven (41.0 %) patients expressed interest in the intervention. Interested patients were more likely to have been diagnosed in the prior year vs. patients who were not interested on univariate (OR 4.6, 95 % CI 2.0-10.2, P = 0.0002) and multivariable analyses (adjusted OR 3.8, 95 % CI 1.622-9.009, P = 0.0022). CONCLUSIONS: Our study demonstrates that patients are almost five time more likely to be interested in cascade genetic testing within the first year of diagnosis of a pathogenic variant. Given the utility of such programs and their resource requirements, targeting this population could maximize effectiveness and uptake of cascade services.

9.
Article in English | MEDLINE | ID: mdl-39260443

ABSTRACT

BACKGROUND: Characteristics of parent-child interaction (PCI) early in life have been associated with later development in the child. Twin studies can help to disentangle child contributions to parent-child interaction, for example, by assessing the influence of the child's genetics on his/her social environment, which includes parental behaviour. METHODS: Infant twins from a community sample [354 monozygotic (MZ), 268 same-sex dizygotic (DZ)] were assessed in terms of PCI at age 5 months. We used the classical twin design to map the aetiology of several parent and child PCI scales and their covariation. We investigated the relations between PCI and later parent-rated child's social communication, language, and autistic traits at ages 2 and 3. RESULTS: Heritability was below 20% for all the included PCI traits. Unique (nonshared) environmental influences substantially overlapped across several PCI scales, suggesting that idiosyncrasies linked to each session shaped the scoring of several traits in a systematic way. Factor analysis revealed three uncorrelated latent factors, which were conceptualized as 'child negative affect', 'positive affective interaction', and 'parent's supportive strategies'. Parents who were rated highly on 'sensitive responsiveness' at 5 months tended to rate their offspring higher in terms of socio-communicative and language development and lower in terms of autistic traits in the second and third years of life. CONCLUSIONS: This study maps the phenotypic and aetiological structure of PCI in early infancy and supports the view that parents' sensitive responsiveness towards their infant is associated with later developmental gains in several domains. We did not find strong evidence of any so-called evocative genetic effects on parents' behaviour. We discuss the results considering the general challenge for lab-based observational PCI measures to capture the richness of parent-child interaction.

10.
Open Forum Infect Dis ; 11(9): ofae494, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39238842

ABSTRACT

In the United States, tuberculosis (TB) screening is recommended for pregnant individuals with TB risk factors. We conducted a retrospective study of perinatal TB infection testing and treatment in a tertiary health system. Of 165 pregnant individuals with positive TB infection tests, only 9% completed treatment within 4.6 years of follow-up.

11.
Angew Chem Int Ed Engl ; : e202415176, 2024 Sep 12.
Article in English | MEDLINE | ID: mdl-39265085

ABSTRACT

Dearomative cycloadditions offer rapid access to complex 3D molecular architectures, commonly via a sp2-to-sp3 rehybridization of two atoms of an aromatic ring. Here we report that the 6e π-system of a benzenoid aromatic pendant could be exhaustively depleted within a single photochemical cascade. An implementation of this approach involves the initial dearomative [4+2] cycloaddition of the Exited State Intramolecular Proton Transfer (ESIPT)-generated azaxylylene, followed by two consecutive [2+2] cycloadditions of auxiliary π moieties strategically positioned in the photoprecursor. Such photochemical cascade fully dearomatizes the benzenoid aromatic ring, saturating all six sp2 atoms to yield a complex sp3-rich scaffold with high control of its 3D molecular shape, rendering it a robust platform for rapid systematic mapping of underexplored chemical space. Significant growth of molecular complexity - starting with a modular synthesis of photoprecursors from readily available building blocks - is quantified by Böttcher score calculations.

12.
Res Sq ; 2024 Aug 27.
Article in English | MEDLINE | ID: mdl-39257986

ABSTRACT

Background: Integrating patient and community input is essential to the relevance and impact of patient-focused research. However, specific techniques for generating patient and community-informed research decisions remain limited. Here, we describes a novel CASCADE method (Community-Engaged Approach for Scientific Collaborations and Decisions) that was developed and implemented to make actionable, patient-centered research decisions during a federally funded clinical trial. Methods: The CASCADE approach includes 7 key pillars: (1) identifying a shared, specific, and actionable goal; (2) centering community input; (3) integrating both pre-registered statistical analyses and exploratory "quests"; (4) fixed-pace scheduling, supported by technology; (5) minimizing opportunities for cognitive biases typical to group decision making; (6) centering diversity experiences and perspectives, including those of individual patients; (7) making decisions that are community-relevant, rigorous, and feasible. Here, we implemented these pillars within a three-day CASCADE panel, attended by diverse members of a research project team that included community interest-holders. The goal of our panel was to identify ways to improve an algorithm for matching patients to specific types of telehealth programs within an active, federally funded clinical trial. Results: The CASCADE panel was attended by 27 participants, including 5 community interest-holders. Data reviewed to generate hypotheses and make decisions included (1) pre-registered statistical analyses, (2) results of 12 "quests" that were launched during the panel to answer specific panelist questions via exploratory analyses or literature review, (3) qualitative and quantitative patient input, and (4) team member input, including by staff who represented the target patient population for the clinical trial. Panel procedures resulted in the generation of 18 initial and 12 final hypotheses, which were translated to 19 decisional changes. Conclusions: The CASCADE approach was an effective procedure for rapidly, efficiently making patient-centered decisions during an ongoing, federally funded clinical trial. Opportunities for further development will include exploring best-practice structural procedures, enhancing greater opportunities for pre-panel input by community interest-holders, and determining how to best standardize CASCADE outputs. Trial registration: The CASCADE procedure was developed in the context of NCT05999448.

13.
Chemistry ; : e202402976, 2024 Sep 12.
Article in English | MEDLINE | ID: mdl-39267291

ABSTRACT

A three-component cyclization reaction of O-acyl oximes, silyl enol ethers and elemental sulfur has been developed, in which silyl enol ether acts as a C1 synthon to participate in cyclization reaction and build series of 2-aroylnaphthothiazoles and 2-aroylbenzothienothiazoles. The preliminary exploration of the reaction mechanism indicated that this transformation probably proceeded through a radical process, involving S3•- as a key intermediate, enabling subsequent nucleophilic substitution with O-acyl oximes to afford iminosulfur radical, which undergoes 1,3-H shift to yield sulfur-centered radical intermediate. And then this intermediate undergoes radical addition with silyl enol ether, leading to the formation of the titled products through intramolecular cyclization and oxidation. Moreover, the products obtained exhibit favorable fluorescence properties, which indicates their potential application as functional materials.

14.
BMC Neurol ; 24(1): 343, 2024 Sep 13.
Article in English | MEDLINE | ID: mdl-39272026

ABSTRACT

BACKGROUND: Cascade testing can offer improved surveillance and timely introduction of clinical management for the at-risk biological relatives. Data on cascade testing and costs in mitochondrial diseases are lacking. To address this gap, we performed a cross-sectional retrospective study to provide a framework for cascade testing in mitochondrial diseases, to estimate the eligibility versus real-time uptake of cascade testing and to evaluate the cost of the genetic diagnosis of index cases and the cost of predictive cascade testing. METHODS: Data was collected through retrospective chart review. The variant inheritance pattern guided the identification of eligible first-degree relatives: (i) Males with mitochondrial DNA (mtDNA) single nucleotide variants (SNVs) - siblings and mothers. (ii) Females with mtDNA SNVs - siblings, mothers and offspring. (iii) Autosomal Dominant (AD) nuclear DNA (nDNA) variants - siblings, offspring and both parents. (iv) Autosomal Recessive (AR) nDNA variants - siblings. RESULTS: We recruited 99 participants from the Adult Mitochondrial Disease Clinic in Sydney. The uptake of cascade testing was 55.2% in the mtDNA group, 55.8% in the AD nDNA group and 0% in AR nDNA group. Of the relatives in mtDNA group who underwent cascade testing, 65.4% were symptomatic, 20.5% were oligosymptomatic and 14.1% were asymptomatic. The mean cost of cascade testing for eligible first-degree relatives (mtDNA group: $694.7; AD nDNA group: $899.1) was lower than the corresponding index case (mtDNA group: $4578.4; AD nDNA group: $5715.1) (p < 0.001). CONCLUSION: The demand for cascade testing in mitochondrial diseases varies according to the genotype and inheritance pattern. The real-time uptake of cascade testing can be influenced by multiple factors. Early diagnosis of at-risk biological relatives of index cases through cascade testing, confirms the diagnosis in those who are symptomatic and facilitates implementation of surveillance strategies and clinical care at an early stage of the disease.


Subject(s)
DNA, Mitochondrial , Genetic Testing , Mitochondrial Diseases , Humans , Mitochondrial Diseases/genetics , Mitochondrial Diseases/diagnosis , Cross-Sectional Studies , Retrospective Studies , Female , Male , Adult , Middle Aged , Genetic Testing/methods , DNA, Mitochondrial/genetics , Aged
15.
Molecules ; 29(17)2024 Sep 06.
Article in English | MEDLINE | ID: mdl-39275089

ABSTRACT

The reaction of indigo with two equivalents of the electrophile ethyl bromoacetate with caesium carbonate as a base result in the formation of structurally complex polyheterocyclics, including a fused spiroimidazole and a spiro[1,3]oxazino derivative, together with a biindigoid-type derivative, through a convenient one-pot reaction. Further assessment of the reaction using five equivalents of the electrophile gave rise to other molecules incorporating the 2-(7,13,14-trioxo-6,7,13,14-tetrahydropyrazino[1,2-a:4,3-a']diindol-6-yl) scaffold. The reaction of ethyl bromoacetate with the less reactive indirubin resulted in the synthesis of three derivatives of a new class of polyheterocyclic system via a cascade process, although yields were low. These compounds were derived from the parent indolo[1,2-b]pyrrolo[4,3,2-de]isoquinoline skeleton. Despite the modest yields of the reactions, they represent quick cascade routes to a variety of heterocycles from cheap starting materials, with these structures otherwise being difficult to synthesise in a traditional stepwise manner. These outcomes also contribute significantly to the detailed understanding of the indigo/indirubin cascade reaction pathways initiated by base-catalysed N-alkylation.

16.
Adv Sci (Weinh) ; : e2406443, 2024 Sep 03.
Article in English | MEDLINE | ID: mdl-39225313

ABSTRACT

Carbopalladation-initiated cascade reaction involving 1,4-Pd migration is a straightforward and powerful approach to activate remote C─H bond, forging versatile fused polycyclic compounds containing fluorene fragment which are highly valuable synthetic targets. However, its asymmetric variants pose considerable challenges and have not been explored. Here the first asymmetric palladium-catalyzed tandem carbopalladation is reported, 1,4-Pd migration reaction of ortho-iodophenol-derived allyl ether under mild conditions, allowing the transformation of a wide range of substrates in good to excellent enantioselectivities, and providing a facile and straight forward access to tetracyclic dihydroindeno[1,2,3-de]chromene bearing a chiral fluorene skeleton. A good functional group tolerance, high stereoselectivity, as well as the good chiroptical properties (high fluorescence quantum yields, circular dichroism) of the products make this approach highly attractive. Moreover, density functional theory (DFT) calculations indicate that the protonation of five-membered palladacycle intermediate is more favorable rather than its direct reductive elimination process.

17.
Adv Mater ; : e2407378, 2024 Sep 05.
Article in English | MEDLINE | ID: mdl-39235373

ABSTRACT

Utilizing enzyme cascades as a promising approach for targeted cancer therapies holds significant potential, yet its clinical effectiveness is substantially hindered by functional losses during delivery. Complex coacervation emerges as an intriguing strategy for designing functional nanoreactors. In this study, a noteworthy achievement is presented in the development of lactobionic acid-modified tumor microenvironment (TME)-responsive polyelectrolyte complex vesicles (HGS-PCVs) based on bioinspired homopolypeptoids, which serve as a facile, intelligent, and highly efficient nanoreactor tunable for glucose oxidase, hemoglobin, and sorafenib (SRF) to hepatic cancer cells. The TME-responsive permeability of HGS-PCVs enables the selective entry of glucose into their interior, triggering an enzymatic cascade reaction within the tumor. This intricate process generates toxic hydroxyl radicals while concurrently lowering the pH. Consequently, this pH shift enhances the SRF release, effectively promoting ferroptosis and apoptosis in the target cancer cells. Further, the administration of the HGS-PCVs not only initiates immunogenic cell death but also plays a crucial role in inducing the maturation of dendritic cells within lymph nodes. It stimulates an adaptive T-cell response, a crucial mechanism that contributes to impeding the growth of distant tumors in vivo, demonstrating the promising potential of PCVs for cancer immunotherapy.

18.
Adv Sci (Weinh) ; : e2407204, 2024 Sep 04.
Article in English | MEDLINE | ID: mdl-39231322

ABSTRACT

Multi-enzymatic cascade reaction provides a new avenue for C─C coupling directly from CO2 under mild conditions. In this study, a new pathway with four enzymes including formate dehydrogenase (PaFDH), formaldehyde dehydrogenase (BmFADH), glycolaldehyde synthase (PpGALS), and alcohol dehydrogenase (GoADH) is developed for directly converting CO2 gas molecules to ethylene glycol (EG) in vitro. A rhodium-based NADH regeneration electrode is constructed to continuously provide the proton and electron of this multi-enzymatic cascade reaction. The prepared electrode can reach the Faradaic Efficiency (FE) of 82.9% at -0.6 V (vs. Ag/AgCl) and the NADH productivity of 0.737 mM h-1. Shortening the reaction path is crucial for multi-enzymatic cascade reactions. Here, a hydrogen-bonded organic framework (HOF) nano-reactor is successfully developed to immobilize four enzymes in one pot with a striking enzyme loading capacity (990 mg enzyme g-1 material). Through integrating and optimization of NADH electro-regeneration and enzymatic catalysis in one pot, 0.15 mM EG is achieved with an average conversion rate of 7.15 × 10-7 mmol CO2 min-1 mg-1 enzymes in 6 h. These results shed light on electro-driven multi-enzymatic cascade conversion of C─C coupling from CO2 in the nano-reactor.

19.
J Clin Lipidol ; 2024 Sep 04.
Article in English | MEDLINE | ID: mdl-39317596

ABSTRACT

BACKGROUND: Familial Hypercholesterolaemia (FH) is a monogenic disorder that causes high levels of low-density lipoprotein (LDL) cholesterol. Cascade testing, where relatives of known individuals with FH ('index') are genetically tested, is effective and cost-effective, but implementation in the UK varies. OBJECTIVE: This study aims to provide evidence on current UK FH cascade yields and to identify common obstacles cascade services face and individual- and service-level predictors of success. METHODS: Electronic health records from 875 index families and 5,958 linked relatives in the UK's Welsh and Wessex FH services (2019) were used to explore causes for non-testing and to estimate testing rates, detection yields, and how relative characteristics and contact methods relate to the probability of relatives being tested (using logistic regression). RESULTS: In Wales (Wessex), families included 7.35 (7.01) members on average, with 2.41 (1.66) relatives tested and 1.35 (0.96) diagnosed with FH per index. Cascade testing is limited by individualised circumstances (too young, not at-risk, etc.) and FH services' reach, with approximately one in four relatives out-of-area. In Wales, first-degree relatives (odds ratio (OR):1.55 [95 % confidence interval (CI):1.28,1.88]) and directly contacted relatives (OR:2.11 [CI:1.66,2.69]) were more likely to be tested. In Wales and Wessex, women were more likely to be tested than men (ORs:1.53 [CI:1.28,1.85] and 1.74 [CI:1.32,2.27]). CONCLUSION: In Wales and Wessex less than a third of relatives of an index are tested for FH. Improvements are likely possible by integrating geographically dispersed families into cascade testing, services directly contacting relatives where possible, and finding new ways to encourage participation, particularly amongst men.

20.
Gastroenterol Hepatol Bed Bench ; 17(3): 260-269, 2024.
Article in English | MEDLINE | ID: mdl-39308536

ABSTRACT

Aim: We assessed the feasibility of point-of-care testing to gain insights into participants' knowledge, experience and its effect on hepatitis C management. Background: In New Zealand, only 50% of people infected with hepatitis C (HCV) are currently diagnosed. HCV infection is the most common diagnosis leading to liver transplantation in New Zealand. A point-of-care test can streamline HCV management. Methods: The OraQuick HCV test (mouth swab or finger-prick) was offered to participants aged 45 to 65 and anyone with a risk factor for hepatitis C. Data collected included demographics, risk factors, and participant experience with testing. Results: A total of 218 participants were recruited. The median age was 29 years (IQR 22 to 46). All the tests via the finger-prick method were negative. Fourteen positive mouth-swab tests were negative on ELISA testing. One person was detected to have HCV infection and treated. Knowledge regarding HCV was low. There were no statistically significant differences in knowledge between participants with different education levels, F (4213=0.857, P=0.491 and different ethnicities, F (4,213)0.857, P=0.491. The majority of study participants preferred the point-of-care test. Conclusion: Point-of-care testing for HCV is feasible and preferred. Knowledge regarding HCV was low. This study has also provided valuable insights into the viability and experience of offering point-of-care testing.

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