RESUMEN
Background/Aims: Shifts in the gut microbiota and metabolites are interrelated with liver cirrhosis progression and complications. However, causal relationships have not been evaluated comprehensively. Here, we identified complication-dependent gut microbiota and metabolic signatures in patients with liver cirrhosis. Methods: Microbiome taxonomic profiling was performed on 194 stool samples (52 controls and 142 cirrhosis patients) via V3-V4 16S rRNA sequencing. Next, 51 samples (17 controls and 34 cirrhosis patients) were selected for fecal metabolite profiling via gas chromatography mass spectrometry and liquid chromatography coupled to time-of-flight-mass spectrometry. Correlation analyses were performed targeting the gut- microbiota, metabolites, clinical parameters, and presence of complications (varices, ascites, peritonitis, encephalopathy, hepatorenal syndrome, hepatocellular carcinoma, and deceased). Results: Veillonella bacteria, Ruminococcus gnavus, and Streptococcus pneumoniae are cirrhosis-related microbiotas compared with control group. Bacteroides ovatus, Clostridium symbiosum, Emergencia timonensis, Fusobacterium varium, and Hungatella_uc were associated with complications in the cirrhosis group. The areas under the receiver operating characteristic curve (AUROCs) for the diagnosis of cirrhosis, encephalopathy, hepatorenal syndrome, and deceased were 0.863, 0.733, 0.71, and 0.69, respectively. The AUROCs of mixed microbial species for the diagnosis of cirrhosis and complication were 0.808 and 0.847, respectively. According to the metabolic profile, 5 increased fecal metabolites in patients with cirrhosis were biomarkers (AUROC > 0.880) for the diagnosis of cirrhosis and complications. Clinical markers were significantly correlated with the gut microbiota and metabolites. Conclusion: Cirrhosis-dependent gut microbiota and metabolites present unique signatures that can be used as noninvasive biomarkers for the diagnosis of cirrhosis and its complications.
RESUMEN
Diarrhea, a common gastrointestinal symptom in health problems, is highly associated with gut dysbiosis. The purpose of this study is to demonstrate the effect of multistrain probiotics (Sensi-Biome) on diarrhea from the perspective of the microbiome-neuron axis. Sensi-Biome (Lactiplantibacillus plantarum, Bifidobacterium animalis subsp. lactis, Lactobacillus acidophilus, Streptococcus thermophilus, Bifidobacterium bifidum, and Lactococcus lactis) was administered in a 4% acetic acid-induced diarrhea rat model at concentrations of 1 × 108 (G1), 1 × 109 (G2), and 1 × 1010 CFU/0.5 mL (G3). Diarrhea-related parameters, inflammation-related cytokines, and stool microbiota analysis by 16S rRNA were evaluated. A targeted and untargeted metabolomics approach was used to analyze the cecum samples using liquid chromatography and orbitrap mass spectrometry. The stool moisture content (p < 0.001), intestinal movement rate (p < 0.05), and pH (p < 0.05) were significantly recovered in G3. Serotonin levels were decreased in the multistrain probiotics groups. The inflammatory cytokines, serotonin, and tryptophan hydroxylase expression were improved in the Sensi-Biome groups. At the phylum level, Sensi-Biome showed the highest relative abundance of Firmicutes. Short-chain fatty acids including butyrate, iso-butyrate, propionate, and iso-valeric acid were significantly modified in the Sensi-Biome groups. Equol and oleamide were significantly improved in the multistrain probiotics groups. In conclusion, Sensi-Biome effectively controls diarrhea by modulating metabolites and the serotonin pathway.
RESUMEN
Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder with abnormal thyroid function caused by mutation in the solute carrier family 16 member 2 (SLC16A2) gene. Clinical manifestations of AHDS are global or axial hypotonia, a variety of movement disorders, severe intellectual disability, quadriplegia or spastic diplegia, growth failure, and seizures. A 10-year-old boy visited our hospital with the chief complaint of newly onset generalized tonic seizures with vocalization of weekly to daily frequency. He showed early infantile hypotonia, severe intellectual disability, and frequent respiratory infections. He could not walk independently and was non-verbal. Electroencephalogram revealed generalized slow spike and waves with multifocal spikes and slow background rhythms. His tonic seizures were controlled with more than two anti-seizure medications (ASMs). At 11 years of age, he was evaluated for thyroid function as part of regular screening for ASM maintenance and was found to have abnormal thyroid function. We performed whole exome sequencing for severe global developmental delay, drug-resistant epilepsy, and abnormal thyroid function. The hemizygous c.940C>T (p.Arg314Ter) variant in the SLC16A2 gene (NM_006517.5) was identified and confirmed based on Sanger sequencing. Herein, we describe a case of an AHDS patient with late-onset drug-resistant epilepsy combined with congenital hypotonia, global developmental delay, and abnormal thyroid function results. To the best of our knowledge, this is the oldest adolescent among AHDS cases reported in Korea. In this report, clinical characteristics of a mid-adolescence patient with AHDS were presented.
RESUMEN
Purpose@#This study aims to systematically review the literature and conduct a meta-analysis to thoroughly analyze the outcomes of studies on simulation programs in psychiatric nursing. @*Methods@#We conducted an initial search from January 1, 2000, to September 30, 2023, using databases such as PubMed, EMBASE, CINAHL, the Cochrane Library, and Web of Science. A total of 2,571 articles were reviewed based on inclusion and exclusion criteria. We selected 35 articles for systematic literature review and subjected 20 of them to meta-analysis. Data analysis was conducted using descriptive statistics and the Comprehensive Meta-Analysis program. @*Results@#The number of psychiatric nursing simulation programs has increased since 2015. The most common programs used Standard Patients (SP), but studies using Virtual Reality (VR), audio, video, and other methods have recently been reported. The programs addressed various mental health issues, including depression, suicide, violence, alcohol problems, and mood disorders. Overall, considering all the studies, a significant effect was observed with a pooled Hedges’s g value of 0.56 (95% CI: 0.35~0.78; p<.001). @*Conclusion@#These findings highlight the importance of incorporating simulation-based education into nursing curricula to equip professionals with the skills to provide high-quality care to individuals with mental health problems. Further research is needed to explore the long-term benefits of these educational interventions on patient care.
RESUMEN
Purpose@#The aim of the study was to conduct a systematic review and meta-analysis of nurses’ turnover intention in existing studies. @*Methods@#A literature search was conducted in two rounds. The first round was performed on December 16, 2018. The search period was from January 1, 2008, to December 16, 2018, and involved seven databases: MEDLINE and EMBASE, which are international academic databases, and KoreaMed, KERIS, KISS, KISTI, and KMbase, which are domestic academic databases. The second search round was performed on July 2, 2022. The search period was from 2019 to 2022. @*Results@#Fifty-three variables associated with turnover intention were identified in articles in the first round, with significantly associated work- and organization-related parameters, including burnout, emotional labor, job stress, role conflict, job satisfaction, and organizational commitment. Thirty-eight variables were identified in the second round, with mental and psychological parameters, including mental health and psychological capital, having a more significant influence. @*Conclusion@#The findings of this study can be used to prevent the turnover of hospital nurses and develop strategies for retaining excellent and professional hospital nurses.
RESUMEN
Purpose@#The purpose of this study is to compare the predictive validity of pressure injury risk assessment, Braden, Braden Q and Braden QD for pediatric patients. @*Methods@#Prospective observational study included patients under the age of 19 who were hospitalized to general wards, intensive care units of a children’s hospital.Characteristics related to pressure injury were collected, and predicted validity was compared by calculating the areas under the curve (AUC) of the Braden, Braden Q, and Braden QD scales. @*Results@#A total of 689 patients were included in the study. A total of 13 (1.9%) patients had pressure injuries, and the number of pressure injuries was 17. Factors related to the occurrence of pressure injuries were 9 (52.9%) immobility-related and 8 (47.1%) medical device-related. The AUC for each scale was .91 (95% CI .89~.94) for Braden, .92 (95% CI .90~.95) for Braden Q, and .94(95% CI .92~.96) for Braden QD. The optimal cut-off points were identified as 16 for Braden (sensitivity=88.8%, specificity=86.4%), 17 for Braden Q(sensitivity=63.6%, specificity=94.9%), and 12 for Braden QD (sensitivity=94.4%, specificity=88.7%). @*Conclusion@#The Braden QD scale demonstrated the highest predictive validity for pressure injuries in pediatric patients and is expected to be valuable tool in preventing pediatrics pressure injuries.
RESUMEN
Background@#Lung dysfunction and high apolipoprotein B/apolipoprotein A-I (apoB/apoA-I) ratio are both recognized risk factors for cardiovascular disease. However, few studies have examined the association between the apoB/ApoA-I ratio and lung function. Therefore, we investigated whether this ratio is associated with decreased lung function in a large healthy cohort. @*Methods@#We performed a cohort study on 68,418 healthy Koreans (34,797 males, mean age:38.1 years) who underwent a health examination in 2019. ApoB/apoA-I ratio was categorized into quartiles. Spirometric values at the fifth percentile in our population were considered the lower limit of normal (LLN), which was used to define lung function impairment. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs), using the lowest quartile as the reference, were estimated to determine lung function impairment. @*Results@#Mean apoB/apoA-I ratio was 0.67 ± 0.21. Subjects with the highest quartile of this ratio had the lowest predicted forced expiratory volume in one second (FEV1 %) and forced vital capacity (FVC%) after controlling for covariates (P < 0.001). However, FEV1 /FVC ratio was not significantly different among the four quartiles (P = 0.059). Compared with the lowest quartile (Q1, reference), the aORs (95% CI) for FEV1 % < LLN across increasing quartiles (from Q2 to Q4) were 1.216 (1.094–1.351), 1.293 (1.156–1.448), and 1.481 (1.311– 1.672) (P for trend < 0.001), respectively. Similarly, the aORs for FVC% < LLN compared with the reference were 1.212 (1.090–1.348), 1.283 (1.147–1.436), and 1.502 (1.331–1.695) with increasing quartiles (P for trend < 0.001). However, the aORs for FEV1 /FVC < LLN were not significantly different among groups (P for trend = 0.273). @*Conclusion@#High apoB/apoA-I ratio was associated with decreased lung function. However, longitudinal follow-up studies are required to validate our findings.
RESUMEN
Background@#This study aimed to identify the acceptance of information communication technology (ICT) and its influencing factors among hospital nurses. @*Methods@#A total of 201 nurses from a tertiary hospital in Seoul, who provided written consent, participated in the study. Data were collected through a self-reported questionnaire comprising 24 items. The analysis included descriptive statistics, independent samples t-test, one-way analysis of variance, correlation analysis, and multiple linear regression analysis. @*Results@#The average score for the acceptance of ICT was 3.98±0.61 on a 5 point scale. Significant factors influencing acceptance of ICT included education (β=0.119, P=0.011), perceived usefulness (β=0.445, P<0.001), subjective norm (β=0.246, P<0.001), and self-efficacy (β=0.117, P=0.041). @*Conclusions@#To enhance nurses’ acceptance of ICT, it is crucial to clearly communicate the usefulness of ICT and implement specific strategy to boost nurses’ self-efficacy or confidence. Additionally, creating an environment that fosters mutual positive influences among nurses is essential.
RESUMEN
When teeth are extracted, patient face social, psychological and aesthetic problems which can be minimized by fabricating a interim immediate denture. Interim immediate denture manufactured using digital technology can be completed with reduced number of patients’ visits and simple laboratory process. Implant-supported removable partial denture (ISRPD) has been suggested as alternative treatment option when fixed implant prosthesis is not feasible. In this case, interim immediate dentures were fabricated using digital technology for patient after teeth extraction and treatment using ISRPD by installing implants and surveyed crowns is found to be successful with better support, stability and maintenance of removable partial dentures.
RESUMEN
Purpose@#To measure the level of reflection, this study analyzes diaries written by third-year nursing students before and after the debriefing stage in simulation training. A qualitative study using diary entries from 15 nursing students to explore reflection depth. @*Methods@#Students engaged in simulation training and the debriefing stage, documenting their reflections in diaries. Before and after debriefing, reflections were rated from Level 1 (reflectivity) to Level 7 (theoretical reflectivity). @*Results@#The total number of reflection levels rose significantly from 545 to 829 post-debriefing, enhancing higher-order reflection.The shift signifies a move from superficial to deep reflection, highlighting debriefing's role in fostering critical thinking. @*Conclusion@#The findings underscore the critical role of debriefing in enhancing reflective thinking in nursing education. There is a demonstrated need for further research into the specific elements of debriefing that are most effective at promoting deep reflection. Future studies should conduct comparative analyses of different debriefing methods and approaches across various educational settings. This research could lay the foundation for designing more effective debriefing strategies that foster critical thinking and improve learning outcomes in nursing education.
RESUMEN
Background@#This study evaluated the effects of a mobile diabetes management program called “iCareD” (College of Medicine, The Catholic University of Korea) which was integrated into the hospital’s electronic medical records system to minimize the workload of the healthcare team in the real clinical practice setting. @*Methods@#In this retrospective observational study, we recruited 308 patients. We categorized these patients based on their compliance regarding their use of the iCareD program at home; compliance was determined through self-monitored blood glucose inputs and message subscription rates. We analyzed changes in the ABC (hemoglobin A1c, blood pressure, and low-density lipoprotein cholesterol) levels from the baseline to 12 months thereafter, based on the patients’ iCareD usage patterns. @*Results@#The patients comprised 92 (30%) non-users, 170 (55%) poor-compliance users, and 46 (15%) good-compliance users; the ABC target achievement rate showed prominent changes in good-compliance groups from baseline to 12 months (10.9% vs. 23.9%, P<0.05), whereas no significant changes were observed for poor-compliance users and non-users (13.5% vs. 18.8%, P=0.106; 20.7% vs. 14.1%, P=0.201; respectively). @*Conclusion@#Implementing the iCareD can improve the ABC levels of patients with diabetes with minimal efforts of the healthcare team in real clinical settings. However, the improvement of patients’ compliance concerning the use of the system without the vigorous intervention of the healthcare team needs to be solved in the future.
RESUMEN
Background: An understanding of the economic life activities of persons with disabilities (PWD) is important. Their ability to perform tasks and an increase in their income are more likely to yield an improvement in their Self-Rated Health (SRH) and happiness. However, there is still a lack of understanding of the specific associations among PWD in South Korea. Thus, this study conducted a longitudinal analysis of the association between job satisfaction and SRH, happiness among the Korean PWD. Methods: After excluding missing values, data on 1,637 participants at baseline (1st wave) were analyzed using the chi-square test, t-test, Analysis of Variance (ANOVA) and generalized estimating equation (GEE) model for data from 1st to 3rd Panel Survey of Employment for the Disabled (PSED). All analyses were conducted using the SAS statistical software package, version 9.4. Results: Compared to very high job satisfaction group, low job satisfaction group was more likely to experience negative SRH [odds ratio (OR): 3.497, value of p: <0.0001] and experience low happiness (B: -0.291, value of p: <0.0001). Furthermore, in terms of the overall satisfaction with current job among the PWD, compared to the 'very satisfied' group, 'very unsatisfied' group had higher negative SRH (OR: 5.158, value of p: 0.003) and lower happiness (B: -0.327, value of p: <0.0001). Conclusion: This study suggests that increasing job satisfaction of PWD possibly leads to decreased negative SRH and to increased happiness, resulting in better SRH and happiness. Furthermore, it suggests the establishment of systemic, policy-oriented measures to enhance the employment opportunities for disabled individuals in Korea and create an inclusive working environment that aligns with their respective job responsibilities.
Asunto(s)
Personas con Discapacidad , Satisfacción en el Trabajo , Humanos , Felicidad , Empleo , República de CoreaRESUMEN
Assisted reproductive technologies (ARTs), including in vitro maturation and fertilization (IVF), are increasingly used in human and animal reproduction. Whether these technologies directly affect the rate of de novo mutation (DNM), and to what extent, has been a matter of debate. Here we take advantage of domestic cattle, characterized by complex pedigrees that are ideally suited to detect DNMs and by the systematic use of ART, to study the rate of de novo structural variation (dnSV) in this species and how it is impacted by IVF. By exploiting features of associated de novo point mutations (dnPMs) and dnSVs in clustered DNMs, we provide strong evidence that (1) IVF increases the rate of dnSV approximately fivefold, and (2) the corresponding mutations occur during the very early stages of embryonic development (one- and two-cell stage), yet primarily affect the paternal genome.
Asunto(s)
Desarrollo Embrionario , Familia , Embarazo , Femenino , Animales , Bovinos , Humanos , Mutación , Linaje , Genoma HumanoRESUMEN
The Committee of Central Precocious Puberty of Korean Pediatrics and Adolescents of the Korean Society of Pediatric Endocrinology has newly developed evidence-based 2022 clinical practice guidelines for central precocious puberty in Korean children and adolescents. These guidelines provide the grade of recommendations, which includes both the strength of recommendations and the level of evidence. In the absence of sufficient evidence, recommendations are based on expert opinion. These guidelines have been revised and supplement the previous guidelines "Clinical Guidelines for Precocious Puberty 2011," and are drawn from a comprehensive review of the latest domestic and international research and the grade of recommendation appropriate to the domestic situation. This review summarizes the newly revised guidelines into 8 key questions and 27 recommendations and consists of 4 sections: screening, diagnosis, treatment, and long-term outcome of central precocious puberty.
RESUMEN
IMPORTANCE: Fungal infections cause significant morbidity and mortality globally. The therapeutic armamentarium against these infections is limited, and the development of antifungal drugs has been hindered by the evolutionary conservation between fungi and the human host. With rising resistance to the current antifungal arsenal and an increasing at-risk population, there is an urgent need for the development of new antifungal compounds. The FK520 analogs described in this study display potent antifungal activity as a novel class of antifungals centered on modifying an existing orally active FDA-approved therapy. This research advances the development of much-needed newer antifungal treatment options with novel mechanisms of action.
Asunto(s)
Cryptococcus neoformans , Micosis , Humanos , Antifúngicos/farmacología , Antifúngicos/uso terapéutico , Micosis/tratamiento farmacológico , Pruebas de Sensibilidad MicrobianaRESUMEN
Nanotransfer printing (nTP) is one of the most promising nanopatterning methods given that it can be used to produce nano-to-micro patterns effectively with functionalities for electronic device applications. However, the nTP process is hindered by several critical obstacles, such as sub-20 nm mold technology, reliable large-area replication, and uniform transfer-printing of functional materials. Here, for the first time, a dual nanopatterning process is demonstrated that creates periodic sub-20 nm structures on the eight-inch wafer by the transfer-printing of patterned ultra-thin (<50 nm) block copolymer (BCP) film onto desired substrates. This study shows how to transfer self-assembled BCP patterns from the Si mold onto rigid and/or flexible substrates through a nanopatterning method of thermally assisted nTP (T-nTP) and directed self-assembly (DSA) of Si-containing BCPs. In particular, the successful microscale patternization of well-ordered sub-20 nm SiOx patterns is systematically presented by controlling the self-assembly conditions of BCP and printing temperature. In addition, various complex pattern geometries of nano-in-micro structures are displayed over a large patterning area by T-nTP, such as angular line, wave line, ring, dot-in-hole, and dot-in-honeycomb structures. This advanced BCP-replicated nanopatterning technology is expected to be widely applicable to nanofabrication of nano-to-micro electronic devices with complex circuits.
RESUMEN
Various lithography techniques have been widely used for the fabrication of next-generation device applications. Micro/nanoscale pattern structures formed by lithographic methods significantly improve the performance capabilities of the devices. Here, we introduce a novel method that combines the patterning of nanotransfer printing (nTP) and laser micromachining to fabricate multiscale pattern structures on a wide range of scales. Prior to the formation of various nano-in-micro-in-millimeter (NMM) patterns, the nTP process is employed to obtain periodic nanoscale patterns on the target substrates. Then, an optimum laser-based patterning that effectively engraves various nanopatterned surfaces, in this case, spin-cast soft polymer film, rigid polymer film, a stainless still plate, and a Si substrate, is established. We demonstrate the formation of well-defined square and dot-shaped multiscale NMM-patterned structures by the combined patterning method of nTP and laser processes. Furthermore, we present the generation of unusual text-shaped NMM pattern structures on colorless polyimide (CPI) film, showing optically excellent rainbow luminescence based on the configuration of multiscale patterns from nanoscale to milliscale. We expect that this combined patterning strategy will be extendable to other nano-to-micro fabrication processes for application to various nano/microdevices with complex multiscale pattern geometries.
RESUMEN
High-resolution nanotransfer printing (nTP) technologies have attracted a tremendous amount of attention due to their excellent patternability, high productivity, and cost-effectiveness. However, there is still a need to develop low-cost mold manufacturing methods, because most nTP techniques generally require the use of patterned molds fabricated by high-cost lithography technology. Here, we introduce a novel nTP strategy that uses imprinted metal molds to serve as an alternative to a Si stamp in the transfer printing process. We present a method by which to fabricate rigid surface-patterned metallic molds (Zn, Al, and Ni) based on the process of direct extreme-pressure imprint lithography (EPIL). We also demonstrate the nanoscale pattern formation of functional materials, in this case Au, TiO2, and GST, onto diverse surfaces of SiO2/Si, polished metal, and slippery glass by the versatile nTP method using the imprinted metallic molds with nanopatterns. Furthermore, we show the patterning results of nanoporous crossbar arrays on colorless polyimide (CPI) by a repeated nTP process. We expect that this combined nanopatterning method of EPIL and nTP processes will be extendable to the fabrication of various nanodevices with complex circuits based on micro/nanostructures.
RESUMEN
Constipation is one of the most common gastrointestinal (GI) disorders worldwide. The use of probiotics to improve constipation is well known. In this study, the effect on loperamide-induced constipation by intragastric administration of probiotics Consti-Biome mixed with SynBalance® SmilinGut (Lactobacillus plantarum PBS067, Lactobacillus rhamnosus LRH020, Bifidobacterium animalis subsp. lactis BL050; Roelmi HPC), L. plantarum UALp-05 (Chr. Hansen), Lactobacillus acidophilus DDS-1 (Chr. Hansen), and Streptococcus thermophilus CKDB027 (Chong Kun Dang Bio) to rats was evaluated. To induce constipation, 5 mg/kg loperamide was intraperitoneally administered twice a day for 7 days to all groups except the normal control group. After inducing constipation, Dulcolax-S tablets and multi-strain probiotics Consti-Biome were orally administered once a day for 14 days. The probiotics were administered 0.5 mL at concentrations of 2 × 108 CFU/mL (G1), 2 × 109 CFU/mL (G2), and 2 × 1010 CFU/mL (G3). Compared to the loperamide administration group (LOP), the multi-strain probiotics not only significantly increased the number of fecal pellets but also improved the GI transit rate. The mRNA expression levels of serotonin- and mucin-related genes in the colons that were treated with the probiotics were also significantly increased compared to levels in the LOP group. In addition, an increase in serotonin was observed in the colon. The cecum metabolites showed a different pattern between the probiotics-treated groups and the LOP group, and an increase in short-chain fatty acids was observed in the probiotic-treated groups. The abundances of the phylum Verrucomicrobia, the family Erysipelotrichaceae and the genus Akkermansia were increased in fecal samples of the probiotic-treated groups. Therefore, the multi-strain probiotics used in this experiment were thought to help alleviate LOP-induced constipation by altering the levels of short-chain fatty acids, serotonin, and mucin through improvement in the intestinal microflora.
RESUMEN
BACKGROUND: Structural variants (SVs) are chromosomal segments that differ between genomes, such as deletions, duplications, insertions, inversions and translocations. The genomics revolution enabled the discovery of sub-microscopic SVs via array and whole-genome sequencing (WGS) data, paving the way to unravel the functional impact of SVs. Recent human expression QTL mapping studies demonstrated that SVs play a disproportionally large role in altering gene expression, underlining the importance of including SVs in genetic analyses. Therefore, this study aimed to generate and explore a high-quality bovine SV catalogue exploiting a unique cattle family cohort data (total 266 samples, forming 127 trios). RESULTS: We curated 13,731 SVs segregating in the population, consisting of 12,201 deletions, 1,509 duplications, and 21 multi-allelic CNVs (> 50-bp). Of these, we validated a subset of copy number variants (CNVs) utilising a direct genotyping approach in an independent cohort, indicating that at least 62% of the CNVs are true variants, segregating in the population. Among gene-disrupting SVs, we prioritised two likely high impact duplications, encompassing ORM1 and POPDC3 genes, respectively. Liver expression QTL mapping results revealed that these duplications are likely causing altered gene expression, confirming the functional importance of SVs. Although most of the accurately genotyped CNVs are tagged by single nucleotide polymorphisms (SNPs) ascertained in WGS data, most CNVs were not captured by individual SNPs obtained from a 50K genotyping array. CONCLUSION: We generated a high-quality SV catalogue exploiting unique whole genome sequenced bovine family cohort data. Two high impact duplications upregulating the ORM1 and POPDC3 are putative candidates for postpartum feed intake and hoof health traits, thus warranting further investigation. Generally, CNVs were in low LD with SNPs on the 50K array. Hence, it remains crucial to incorporate CNVs via means other than tagging SNPs, such as investigation of tagging haplotypes, direct imputation of CNVs, or direct genotyping as done in the current study. The SV catalogue and the custom genotyping array generated in the current study will serve as valuable resources accelerating utilisation of full spectrum of genetic variants in bovine genomes.