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  1. Welsh P, Al Zabiby A, Byrne H, Benbow HR, Itani T, Farries G, et al.
    Atherosclerosis, 2024 Feb;389:117437.
    PMID: 38219651 DOI: 10.1016/j.atherosclerosis.2023.117437
    BACKGROUND AND AIMS: Elevated lipoprotein(a) [Lp(a)] is a genetic driver for atherosclerotic cardiovascular disease (ASCVD). We aimed to provide novel insights into the associated risk of elevated versus normal Lp(a) levels on major adverse cardiovascular events (MACE) in an incident ASCVD cohort.

    METHODS: This was an observational cohort study of incident ASCVD patients. MACE counts and incidence rates (IRs) per 100-person-years were reported for patients with normal (<65 nmol/L) and elevated (>150 nmol/L) Lp(a) within the first year after incident ASCVD diagnosis and overall follow-up. Cox proportional hazard models quantified the risk of MACE associated with a 100 nmol/L increase in Lp(a).

    RESULTS: The study cohort included 32,537 incident ASCVD patients; 5204 with elevated and 22,257 with normal Lp(a). Of those with elevated Lp(a), 41.2% had a subsequent MACE, versus 35.61% with normal Lp(a). Within the first year of follow-up, the IRs of composite MACE and coronary revascularisation were significantly higher (p < 0.001) in patients with elevated versus normal Lp(a) (IR difference 6.79 and 4.66). This trend was also observed in the overall follow-up (median 4.7 years). Using time to first subsequent MACE, a 100 nmol/L increase in Lp(a) was associated with an 8.0% increased risk of composite MACE, and 18.6% increased risk of coronary revascularisation during the overall follow-up period.

    CONCLUSIONS: The association of elevated Lp(a) with increased risk of subsequent MACE and coronary revascularisation highlights a population who may benefit from earlier and more targeted intervention for cardiovascular risk including Lp(a), particularly within the first year after ASCVD diagnosis. Proactive Lp(a) testing as part of routine clinical practice can help identify and better manage these higher-risk individuals.

    Matched MeSH terms: Biological Specimen Banks
  2. Hildebrandt TB, Hermes R, Goeritz F, Appeltant R, Colleoni S, de Mori B, et al.
    Theriogenology, 2021 Jul 15;169:76-88.
    PMID: 33940218 DOI: 10.1016/j.theriogenology.2021.04.006
    The ongoing mass extinction of animal species at an unprecedented rate is largely caused by human activities. Progressive habitat destruction and fragmentation is resulting in accelerated loss of biodiversity on a global scale. Over decades, captive breeding programs of non-domestic species were characterized by efforts to optimize species-specific husbandry, to increase studbook-based animal exchange, and to improve enclosure designs. To counter the ongoing dramatic loss of biodiversity, new approaches are warranted. Recently, new ideas, particularly the application of assisted reproduction technologies (ART), have been incorporated into classical zoo breeding programs. These technologies include semen and oocyte collection, artificial insemination, and in-vitro embryo generation. More futuristic ideas of advanced ART (aART) implement recent advances in biotechnology and stem-cell related approaches such as cloning, inner cell mass transfer (ICM), and the stem-cell-associated techniques (SCAT) for the generation of gametes and ultimately embryos of highly endangered species, such as the northern white rhinoceros (Ceratotherium simum cottoni) of which only two female individuals are left. Both, ART and aART greatly depend on and benefit from the rapidly evolving cryopreservation techniques and biobanking not only of genetic, but also of viable cellular materials suitable for the generation of induced pluripotent stem cells (iPSC). The availability of cryopreserved materials bridges gaps in time and space, thereby optimizing the available genetic variability and enhancing the chance to restore viable populations.
    Matched MeSH terms: Biological Specimen Banks*
  3. Spence J, Devereaux PJ, Bashir S, Brady K, Sun T, Chan MTV, et al.
    Anesthesiology, 2025 Apr 01;142(4):716-725.
    PMID: 39786937 DOI: 10.1097/ALN.0000000000005368
    BACKGROUND: Delirium is an acute state of confusion associated with adverse postoperative outcomes. Delirium is diagnosed clinically using screening tools; most cases go undetected. Identifying a delirium biomarker would allow for accurate diagnosis, application of therapies, and insight into causal pathways. To agnostically discover novel biomarkers of delirium, a case-control substudy was conducted using the Vascular Events in Surgery Patients Cohort Evaluation (VISION) Cardiac Surgery Biobank. The objective was to identify candidate biomarkers to investigate in future studies.

    METHODS: The study gathered a convenience sample of 30 patients with delirium on postoperative day 1 matched to 30 controls by age, sex, ethnicity, center, and cardiopulmonary bypass time. The Olink Explore 3K platform was used to identify blood protein alterations on postoperative day 3. Protein concentrations were expressed as normalized protein expression units (log 2 fold scale). Protein expression was compared between cases and controls using a paired t test and identified significantly different biomarkers based on a false discovery rate-adjusted P value of less than 0.05.

    RESULTS: Of 2,865 unique serum proteins, 26 (0.9%) were significantly associated with delirium status; all were elevated in cases versus controls at a false discovery rate of less than 0.05. Pathway analysis identified calcium-release channel activity ( Padj = 0.02) and GTP-binding ( Padj = 0.005) functions as characteristic of proteins associated with delirium. The top three differentially expressed biomarkers were FKBP1B ( Padj = 0.003), C2CD2L ( Padj = 0.004), and RAB6B ( Padj = 0.004). The inflammatory biomarker interleukin-8 (CXCL8; mean difference = 2.36; P = 3.6 × 10- 4 ) was also associated with delirium.

    CONCLUSIONS: The study identified 26 biomarkers significantly associated with delirium; all are novel except for interleukin-8. An association between delirium and recognized neuroinflammatory proteins or markers of brain injury was not identifed, which supports using biomarkers to differentiate between delirium and other neurologic conditions. While exploratory, the study's findings support using biomarkers to diagnose postoperative delirium and validate using agnostic screens to identify potential delirium biomarkers.

    Matched MeSH terms: Biological Specimen Banks*
  4. Tan SH, Guan CA, Bujang MA, Lai WH, Voon PJ, Sim EUH
    Sci Rep, 2024 Jan 23;14(1):1997.
    PMID: 38263244 DOI: 10.1038/s41598-024-52421-9
    Gastrointestinal (GI) cancers account for a significant incidence and mortality rates of cancers globally. Utilization of a phenomic data approach allows researchers to reveal the mechanisms and molecular pathogenesis of these conditions. We aimed to investigate the association between the phenomic features and GI cancers in a large cohort study. We included 502,369 subjects aged 37-73 years in the UK Biobank recruited since 2006, followed until the date of the first cancer diagnosis, date of death, or the end of follow-up on December 31st, 2016, whichever occurred first. Socio-demographic factors, blood chemistry, anthropometric measurements and lifestyle factors of participants collected at baseline assessment were analysed. Unvariable and multivariable logistic regression were conducted to determine the significant risk factors for the outcomes of interest, based on the odds ratio (OR) and 95% confidence intervals (CI). The analysis included a total of 441,141 participants, of which 7952 (1.8%) were incident GI cancer cases and 433,189 were healthy controls. A marker, cystatin C was associated with total and each gastrointestinal cancer (adjusted OR 2.43; 95% CI 2.23-2.64). In this cohort, compared to Asians, the Whites appeared to have a higher risk of developing gastrointestinal cancers. Several other factors were associated with distinct GI cancers. Cystatin C and race appear to be important features in GI cancers, suggesting some overlap in the molecular pathogenesis of GI cancers. Given the small proportion of Asians within the UK Biobank, the association between race and GI cancers requires further confirmation.
    Matched MeSH terms: Biological Specimen Banks
  5. Keller JJ, Ooijevaar RE, Hvas CL, Terveer EM, Lieberknecht SC, Högenauer C, et al.
    United European Gastroenterol J, 2021 Mar;9(2):229-247.
    PMID: 33151137 DOI: 10.1177/2050640620967898
    BACKGROUND: Faecal microbiota transplantation is an emerging therapeutic option, particularly for the treatment of recurrent Clostridioides difficile infection. Stool banks that organise recruitment and screening of faeces donors are being embedded within the regulatory frameworks described in the European Union Tissue and Cells Directive and the technical guide to the quality and safety of tissue and cells for human application, published by the European Council.

    OBJECTIVE: Several European and international consensus statements concerning faecal microbiota transplantation have been issued. While these documents provide overall guidance, we aim to provide a detailed description of all processes that relate to the collection, handling and clinical application of human donor stool in this document.

    METHODS: Collaborative subgroups of experts on stool banking drafted concepts for all domains pertaining to stool banking. During a working group meeting in the United European Gastroenterology Week 2019 in Barcelona, these concepts were discussed and finalised to be included in our overall guidance document about faecal microbiota transplantation.

    RESULTS: A guidance document for all domains pertaining to stool banking was created. This document includes standard operating manuals for several processes involved with stool banking, such as handling of donor material, storage and donor screening.

    CONCLUSION: The implementation of faecal microbiota transplantation by stool banks in concordance with our guidance document will enable quality assurance and guarantee the availability of donor faeces preparations for patients.

    Matched MeSH terms: Biological Specimen Banks/organization & administration*; Biological Specimen Banks/standards
  6. Amin L, Hashim H, Mahadi Z, Ismail K
    BMC Med Res Methodol, 2018 12 05;18(1):163.
    PMID: 30518344 DOI: 10.1186/s12874-018-0619-2
    BACKGROUND: The demand in biobanking for the collection and maintenance of biological specimens and personal data from civilians to improve the prevention, diagnosis and treatment of diseases has increased notably. Despite the advancement, certain issues, specifically those related to privacy and data protection, have been critically discussed. The purposes of this study are to assess the willingness of stakeholders to participate in biobanking and to determine its predictors.

    METHODS: A survey of 469 respondents from various stakeholder groups in the Klang Valley region of Malaysia was carried out. Based on previous research, a multi-dimensional instrument measuring willingness to participate in biobanking, and its predictors, was constructed and validated. A single step Structural Equation Modelling was performed to analyse the measurements and structural model using the International Business Machines Corporation Software Package for Social Sciences, Analysis of Moment Structures (IBM SPSS Amos) version 20 with a maximum likelihood function.

    RESULTS: Malaysian stakeholders in the Klang Valley were found to be cautious of biobanks. Although they perceived the biobanks as moderately beneficial (mean score of 4.65) and were moderately willing to participate in biobanking (mean score of 4.10), they professed moderate concern about data and specimen protection issues (mean score of 4.33). Willingness to participate in biobanking was predominantly determined by four direct predictors: specific application-linked perceptions of their benefits (β = 0.35, p specimen protection (β = - 0.31, p specimen protection, religious acceptance, and trust in key players) as well as indirect factors are well accounted for.
    Matched MeSH terms: Biological Specimen Banks
  7. Abdul Aziz MF, Mohd Yusof AN
    Asian Bioeth Rev, 2019 Jun;11(2):209-222.
    PMID: 33717312 DOI: 10.1007/s41649-019-00086-2
    As with many other countries, Malaysia is also developing and promoting biomedical research to increase the understanding of human diseases and possible interventions. To facilitate this development, there is a significant growth of biobanks in the country to ensure continuous collection of biological samples for future research, which contain extremely important personal information and health data of the participants involved. Given the vast amount of samples and data accumulated by biobanks, they can be considered as reservoirs of precious biomedical big data. It is therefore imperative for biobanks to have in place regulatory measures to ensure ethical use of the biomedical big data. Malaysia has yet to introduce specific legislation for the field of biobanking. However, it can be argued that its existing Personal Data Protection Act 2010 (PDPA) has laid down legal principles that can be enforced to protect biomedical big data generated by the biobanks. Consent is a mechanism to enable data subjects to exercise their autonomy by determining how their data can be used and ensure compliance with legal principles. However, there are two main concerns surrounding the current practice of consent in biomedical big data in Malaysia. First, it is uncertain that the current practice would be able to respect the underlying notion of autonomy, and second, it is not in accordance with the legal principles of the PDPA. Scholars have deliberated on different strategies of informed consent, and a more interactive approach has recently been introduced: dynamic consent. It is argued that a dynamic consent approach would be able to address these concerns.
    Matched MeSH terms: Biological Specimen Banks
  8. Zainuddin ZZ, Tarmizi R, Chee YK, Sarkawi NN, Ahmad H, Salleh A, et al.
    Primates, 2022 Jul;63(4):377-386.
    PMID: 35460385 DOI: 10.1007/s10329-022-00989-z
    Bornean orangutan is a critically endangered non-human primate; however, the threat of extinction is not merely from poaching and habitat loss. Orangutan survival is also threatened by the genetic loss and genetic bottleneck due to the low effective population, prompting the dire need for an immediate genetic preservation program through systematic biobanking and assisted reproductive technology (ART). This study aims to provide integral data to the semen characteristics, extension, and cryopreservation of the Bornean orangutan and the potential relationship to male traits. Five captive orangutans from Sepilok Orangutan Rehabilitation Centre (SORC) with a mean body weight of 52.81 ± 7.00 kg were used for this study. Semen collection was performed using electroejaculation (EE) under complete general anesthesia. Semen was subjected to macroscopic and microscopic evaluation while testicular measurement was obtained using digital calipers. The semen characteristics of the orangutans are volume (778 ± 250.21 µl), pH (7.80 ± 0.25), concentration (32.38 ± 17.40 × 106 sperm/ml), total motility (61.00 ± 12.88%), adjusted motility index (48.76 ± 11.32%), live spermatozoa (77.75 ± 6.94%) and normal spermatozoa (11.48 ± 11.34%). Analysis of variance statistical analysis test was used to compare the significant difference between means, at (p 
    Matched MeSH terms: Biological Specimen Banks
  9. Yoshizawa G, Sasongko TH, Ho CH, Kato K
    Front Genet, 2017;8:99.
    PMID: 28775738 DOI: 10.3389/fgene.2017.00099
    The recent research and technology development in medical genomics has raised new issues that are profoundly different from those encountered in traditional clinical research for which informed consent was developed. Global initiatives for international collaboration and public participation in genomics research now face an increasing demand for new forms of informed consent which reflect local contexts. This article analyzes informed consent forms (ICFs) for genomic research formulated by four selected research programs and institutes in East Asia - the Medical Genome Science Program in Japan, Universiti Sains Malaysia Human Research Ethics Committee in Malaysia, and the Taiwan Biobank and the Taipei Medical University- Joint Institutional Review Board in Taiwan. The comparative text analysis highlights East Asian contexts as distinct from other regions by identifying communicative and social functions of consent forms. The communicative functions include re-contact options and offering interactive support for research participants, and setting opportunities for family or community engagement in the consent process. This implies that informed consent cannot be validated solely with the completion of a consent form at the initial stage of the research, and informed consent templates can facilitate interactions between researchers and participants through (even before and after) the research process. The social functions consist of informing participants of possible social risks that include genetic discrimination, sample and data sharing, and highlighting the role of ethics committees. Although international ethics harmonization and the subsequent coordination of consent forms may be necessary to maintain the quality and consistency of consent process for data-intensive international research, it is also worth paying more attention to the local values and different settings that exist where research participants are situated for research in medical genomics. More than simply tools to gain consent from research participants, ICFs function rather as a device of social communication between research communities and civic communities in liaison with intermediary agents like ethics committees, genetic counselors, and public biobanks and databases.
    Matched MeSH terms: Biological Specimen Banks
  10. Vaithilingam RD, Safii SH, Baharuddin NA, Karen-Ng LP, Saub R, Ariffin F, et al.
    Oral Dis, 2015 Jan;21(1):e62-9.
    PMID: 24930489 DOI: 10.1111/odi.12267
    Periodontal bio-repositories, which allow banking of clinically validated human data and biological samples, provide an opportunity to derive biomarkers for periodontal diagnosis, prognosis and therapeutic activities which are expected to improve patient management. This article presents the establishing of the Malaysian Periodontal Database and Biobank System (MPDBS) which was initiated in 2011 with the aim to facilitate periodontal research. Partnerships were established with collaborating centres. Policies on specimen access, authorship and acknowledgement policies were agreed upon by all participating centres before the initiation of the periodontal biobank. Ethical approval for the collection of samples and data were obtained from institutional ethics review boards. A broad-based approach for informed consent was used, which covered areas related to quality of life impacts, genetics and molecular aspects of periodontal disease. Sample collection and processing was performed using a standardized protocol. Biobanking resources such as equipment and freezers were shared with the Malaysian Oral Cancer Database and Tissue Bank System (MOCDTBS). In the development of the MPDBS, challenges that were previously faced by the MOCDTBS were considered. Future challenges in terms of ethical and legal issues will be faced when international collaborations necessitate the transportation of specimens across borders.
    Matched MeSH terms: Biological Specimen Banks
  11. Marques Da Costa ME, Zaidi S, Scoazec JY, Droit R, Lim WC, Marchais A, et al.
    Commun Biol, 2023 Sep 18;6(1):949.
    PMID: 37723198 DOI: 10.1038/s42003-023-05320-0
    Pediatric patients with recurrent and refractory cancers are in most need for new treatments. This study developed patient-derived-xenograft (PDX) models within the European MAPPYACTS cancer precision medicine trial (NCT02613962). To date, 131 PDX models were established following heterotopical and/or orthotopical implantation in immunocompromised mice: 76 sarcomas, 25 other solid tumors, 12 central nervous system tumors, 15 acute leukemias, and 3 lymphomas. PDX establishment rate was 43%. Histology, whole exome and RNA sequencing revealed a high concordance with the primary patient's tumor profile, human leukocyte-antigen characteristics and specific metabolic pathway signatures. A detailed patient molecular characterization, including specific mutations prioritized in the clinical molecular tumor boards are provided. Ninety models were shared with the IMI2 ITCC Pediatric Preclinical Proof-of-concept Platform (IMI2 ITCC-P4) for further exploitation. This PDX biobank of unique recurrent childhood cancers provides an essential support for basic and translational research and treatments development in advanced pediatric malignancies.
    Matched MeSH terms: Biological Specimen Banks
  12. Yong KW, Choi JR, Wan Safwani WK
    Adv Exp Med Biol, 2016;951:99-110.
    PMID: 27837557
    Human mesenchymal stem cells (hMSCs), a type of adult stem cells that hold great potential in clinical applications (e.g., regenerative medicine and cell-based therapy) due to their ability to differentiate into multiple types of specialized cells and secrete soluble factors which can initiate tissue repair and regulate immune response. hMSCs need to be expanded in vitro or cryopreserved to obtain sufficient cell numbers required for clinical applications. However, long-term in vitro culture-expanded hMSCs may raise some biosafety concerns (e.g., chromosomal abnormality and malignant transformation) and compromised functional properties, limiting their use in clinical applications. To avoid those adverse effects, it is essential to cryopreserve hMSCs at early passage and pool them for off-the-shelf use in clinical applications. However, the existing cryopreservation methods for hMSCs have some notable limitations. To address these limitations, several approaches have to be taken in order to produce healthy and efficacious cryopreserved hMSCs for clinical trials, which remains challenging to date. Therefore, a noteworthy amount of resources has been utilized in research in optimization of the cryopreservation methods, development of freezing devices, and formulation of cryopreservation media to ensure that hMSCs maintain their therapeutic characteristics without raising biosafety concerns following cryopreservation. Biobanking of hMSCs would be a crucial strategy to facilitate clinical applications in the future.
    Matched MeSH terms: Biological Specimen Banks/trends*
  13. Bell-Sakyi L, Darby A, Baylis M, Makepeace BL
    Ticks Tick Borne Dis, 2018 07;9(5):1364-1371.
    PMID: 29886187 DOI: 10.1016/j.ttbdis.2018.05.015
    Tick cell lines are increasingly used in many fields of tick and tick-borne disease research. The Tick Cell Biobank was established in 2009 to facilitate the development and uptake of these unique and valuable resources. As well as serving as a repository for existing and new ixodid and argasid tick cell lines, the Tick Cell Biobank supplies cell lines and training in their maintenance to scientists worldwide and generates novel cultures from tick species not already represented in the collection. Now part of the Institute of Infection and Global Health at the University of Liverpool, the Tick Cell Biobank has embarked on a new phase of activity particularly targeted at research on problems caused by ticks, other arthropods and the diseases they transmit in less-developed, lower- and middle-income countries. We are carrying out genotypic and phenotypic characterisation of selected cell lines derived from tropical tick species. We continue to expand the culture collection, currently comprising 63 cell lines derived from 18 ixodid and argasid tick species and one each from the sand fly Lutzomyia longipalpis and the biting midge Culicoides sonorensis, and are actively engaging with collaborators to obtain starting material for primary cell cultures from other midge species, mites, tsetse flies and bees. Outposts of the Tick Cell Biobank will be set up in Malaysia, Kenya and Brazil to facilitate uptake and exploitation of cell lines and associated training by scientists in these and neighbouring countries. Thus the Tick Cell Biobank will continue to underpin many areas of global research into biology and control of ticks, other arthropods and vector-borne viral, bacterial and protozoan pathogens.
    Matched MeSH terms: Biological Specimen Banks*
  14. Jasmin Kaur Jagender Singh, Ching Ching Ng, Nor Adinar Baharuddin, Syarida Hasnur Safii, Rathna Devi Vaithilingam
    MyJurnal
    Introduction:PTGS2 and DEFB1 single nucleotide polymorphisms (SNP) have been validated to be associated with chronic periodontitis (CP) in European, Japanese and Chinese populations. Polymorphisms of these genes play a role in the pathogenesis of CP. Thus far, no study has been done on the Malay ethnic group. Hence, this study assessed the allele and genotype frequencies of PTGS2 and DEFB1 variants in subjects with chronic periodontitis and healthy individuals in Malaysian Malays. Methods: Malay CP subjects and periodontally-healthy controls were obtained from Malaysian Periodontal Database and Biobanking system (MPDBS) for this case-control study. Diagnosis for cas-es was based on case definition by Eke et al (2012). DNA samples were genotyped for 4 candidate SNPs, rs689466, rs5275, rs20417 (PTGS2) and rs1047031 (DEFB1). Genotyping was carried out using Taqman genotyping method. The association between SNPs and study groups were assessed using logistic regression analysis. Results: DNA sam-ples from 140 individuals, 76 CP cases and 64 healthy controls were genotyped. Logistic regression results demon-strated that rs689466 for PTGS2 gene was associated with CP susceptibility in the Malay study group (p=0.03; OR: 1.80; 95% CI=1.05-3.07). The dominant and additive model test showed significant association with rs689466 (C/T) (pdominant-adjusted=0.02; OR: 2.22; 95% CI=1.11-4.43;padditive-adjusted=0.03; OR:1.85; 95% CI=1.07-3.19) after controlling for age and smoking. However, no significant association with CP was observed with other SNPs. Conclusion: The results suggest that rs689466 of PTGS2 gene may contribute to CP susceptibility in Malaysian Malay population in our preliminary study.
    Matched MeSH terms: Biological Specimen Banks
  15. Sakaue S, Hirata J, Kanai M, Suzuki K, Akiyama M, Lai Too C, et al.
    Nat Commun, 2020 03 26;11(1):1569.
    PMID: 32218440 DOI: 10.1038/s41467-020-15194-z
    The diversity in our genome is crucial to understanding the demographic history of worldwide populations. However, we have yet to know whether subtle genetic differences within a population can be disentangled, or whether they have an impact on complex traits. Here we apply dimensionality reduction methods (PCA, t-SNE, PCA-t-SNE, UMAP, and PCA-UMAP) to biobank-derived genomic data of a Japanese population (n = 169,719). Dimensionality reduction reveals fine-scale population structure, conspicuously differentiating adjacent insular subpopulations. We further enluciate the demographic landscape of these Japanese subpopulations using population genetics analyses. Finally, we perform phenome-wide polygenic risk score (PRS) analyses on 67 complex traits. Differences in PRS between the deconvoluted subpopulations are not always concordant with those in the observed phenotypes, suggesting that the PRS differences might reflect biases from the uncorrected structure, in a trait-dependent manner. This study suggests that such an uncorrected structure can be a potential pitfall in the clinical application of PRS.
    Matched MeSH terms: Biological Specimen Banks
  16. Zainuddin ZZ, Mohamed Tarmizi MR, Yap KC, Comizzoli P, Sipangkui S
    Animals (Basel), 2020 06 22;10(6).
    PMID: 32580372 DOI: 10.3390/ani10061072
    A better understanding of semen characteristics and resilience to freezing temperatures is necessary before developing assisted reproductive techniques and systematic biobanking for the Sunda clouded leopard. The objective of this study was to evaluate for the first time the semen and sperm quality (in fresh and frozen samples) of two captive Sunda clouded leopards in Malaysia. A total of 17 examinations of the reproductive tract (using ultrasonography) and electro-ejaculations were performed on the two leopards over a 2-year period. Samples obtained from Leopard 1 (8 years old) varied in terms of volume (402 ± 92 µL), pH (7.9 ± 0.9), sperm motility (54.5 ± 24.2%), sperm concentration (122.4 ± 84.7 × 106 sperm/mL), normal morphology (23.9 ± 12.3%), and viability (55.2 ± 18.2%). Midpiece defects represented the most common structural abnormality followed by abnormal tail and head defects. Samples from Leopard 2 (11 year old with abnormal testicular tissue) were of lesser quality. Two frozen semen samples from Leopard 1 were thawed and examined for acrosome integrity. Post-thawed samples contained <10% of motile spermatozoa but almost 50% of abnormal acrosomes. The present results emphasized the high incidence of structurally-abnormal spermatozoa, similar to the mainland clouded leopard. Post-thaw evaluations showed that the few surviving spermatozoa could potentially be used for in vitro fertilization or sperm injection. However, more individuals must be studied to validate those first findings that are exciting but still preliminary.
    Matched MeSH terms: Biological Specimen Banks
  17. Zainuddin ZZ, Sipangkui S, Farqhan Kelana M, Chee YK, Tarmizi MRM, Comizzoli P
    Front Vet Sci, 2021;8:658573.
    PMID: 33778042 DOI: 10.3389/fvets.2021.658573
    The binturong is a medium size carnivore belonging to the Viverrid family that lives in dense forests of South-East Asia. In addition to the protection of this vulnerable species in its natural habitat (in situ), conservation breeding efforts (ex situ) aim at maintaining a good genetic diversity while increasing the number of individuals to reinforce wild populations. Both approaches require a solid understanding of binturong's basic biology. However, there is still a lack of precise information about reproduction. The objective of this brief research report was to analyze testicular sizes and semen characteristics at different times of the year to better understand the reproductive physiology and inform future conservation efforts. A secondary objective was to describe sperm cryotolerance for the first time in that species. Examinations of testes and semen collections were conducted on two adult males. While testicular measurements were relatively constant across multiple examinations, semen characteristics (volume, viability, sperm concentrations, sperm motility) varied between samples. However, incidence of sperm morphological abnormalities was consistently high. Sperm cryotolerance appeared to be poor but further studies are warranted. The present dataset will be useful for future research on binturong reproduction and for the development of assisted reproductive techniques and biobanking of germplasms in that species.
    Matched MeSH terms: Biological Specimen Banks
  18. Barbu MC, Zeng Y, Shen X, Cox SR, Clarke TK, Gibson J, et al.
    PMID: 30197049 DOI: 10.1016/j.bpsc.2018.07.006
    BACKGROUND: Major depressive disorder is a clinically heterogeneous psychiatric disorder with a polygenic architecture. Genome-wide association studies have identified a number of risk-associated variants across the genome and have reported growing evidence of NETRIN1 pathway involvement. Stratifying disease risk by genetic variation within the NETRIN1 pathway may provide important routes for identification of disease mechanisms by focusing on a specific process, excluding heterogeneous risk-associated variation in other pathways. Here, we sought to investigate whether major depressive disorder polygenic risk scores derived from the NETRIN1 signaling pathway (NETRIN1-PRSs) and the whole genome, excluding NETRIN1 pathway genes (genomic-PRSs), were associated with white matter microstructure.

    METHODS: We used two diffusion tensor imaging measures, fractional anisotropy (FA) and mean diffusivity (MD), in the most up-to-date UK Biobank neuroimaging data release (FA: n = 6401; MD: n = 6390).

    RESULTS: We found significantly lower FA in the superior longitudinal fasciculus (β = -.035, pcorrected = .029) and significantly higher MD in a global measure of thalamic radiations (β = .029, pcorrected = .021), as well as higher MD in the superior (β = .034, pcorrected = .039) and inferior (β = .029, pcorrected = .043) longitudinal fasciculus and in the anterior (β = .025, pcorrected = .046) and superior (β = .027, pcorrected = .043) thalamic radiation associated with NETRIN1-PRS. Genomic-PRS was also associated with lower FA and higher MD in several tracts.

    CONCLUSIONS: Our findings indicate that variation in the NETRIN1 signaling pathway may confer risk for major depressive disorder through effects on a number of white matter tracts.

    Matched MeSH terms: Biological Specimen Banks
  19. Shen X, Howard DM, Adams MJ, Hill WD, Clarke TK, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, et al.
    Nat Commun, 2020 05 08;11(1):2301.
    PMID: 32385265 DOI: 10.1038/s41467-020-16022-0
    Depression is a leading cause of worldwide disability but there remains considerable uncertainty regarding its neural and behavioural associations. Here, using non-overlapping Psychiatric Genomics Consortium (PGC) datasets as a reference, we estimate polygenic risk scores for depression (depression-PRS) in a discovery (N = 10,674) and replication (N = 11,214) imaging sample from UK Biobank. We report 77 traits that are significantly associated with depression-PRS, in both discovery and replication analyses. Mendelian Randomisation analysis supports a potential causal effect of liability to depression on brain white matter microstructure (β: 0.125 to 0.868, pFDR 
    Matched MeSH terms: Biological Specimen Banks
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