Displaying publications 1 - 20 of 421 in total

Abstract:
Sort:
  1. Maiwall R, Sarin SK, Kumar S, Jain P, Kumar G, Bhadoria AS, et al.
    Liver Int, 2017 Oct;37(10):1497-1507.
    PMID: 28393476 DOI: 10.1111/liv.13443
    BACKGROUND AND AIM: There is limited data on predictors of acute kidney injury in acute on chronic liver failure. We developed a PIRO model (Predisposition, Injury, Response, Organ failure) for predicting acute kidney injury in a multicentric cohort of acute on chronic liver failure patients.

    PATIENTS AND METHODS: Data of 2360 patients from APASL-ACLF Research Consortium (AARC) was analysed. Multivariate logistic regression model (PIRO score) was developed from a derivation cohort (n=1363) which was validated in another prospective multicentric cohort of acute on chronic liver failure patients (n=997).

    RESULTS: Factors significant for P component were serum creatinine[(≥2 mg/dL)OR 4.52, 95% CI (3.67-5.30)], bilirubin [(<12 mg/dL,OR 1) vs (12-30 mg/dL,OR 1.45, 95% 1.1-2.63) vs (≥30 mg/dL,OR 2.6, 95% CI 1.3-5.2)], serum potassium [(<3 mmol/LOR-1) vs (3-4.9 mmol/L,OR 2.7, 95% CI 1.05-1.97) vs (≥5 mmol/L,OR 4.34, 95% CI 1.67-11.3)] and blood urea (OR 3.73, 95% CI 2.5-5.5); for I component nephrotoxic medications (OR-9.86, 95% CI 3.2-30.8); for R component,Systemic Inflammatory Response Syndrome,(OR-2.14, 95% CI 1.4-3.3); for O component, Circulatory failure (OR-3.5, 95% CI 2.2-5.5). The PIRO score predicted acute kidney injury with C-index of 0.95 and 0.96 in the derivation and validation cohort. The increasing PIRO score was also associated with mortality (P

  2. Nguyen TN, Qureshi MM, Klein P, Yamagami H, Mikulik R, Czlonkowska A, et al.
    Neurology, 2023 Jan 24;100(4):e408-e421.
    PMID: 36257718 DOI: 10.1212/WNL.0000000000201426
    BACKGROUND AND OBJECTIVES: Declines in stroke admission, IV thrombolysis (IVT), and mechanical thrombectomy volumes were reported during the first wave of the COVID-19 pandemic. There is a paucity of data on the longer-term effect of the pandemic on stroke volumes over the course of a year and through the second wave of the pandemic. We sought to measure the effect of the COVID-19 pandemic on the volumes of stroke admissions, intracranial hemorrhage (ICH), IVT, and mechanical thrombectomy over a 1-year period at the onset of the pandemic (March 1, 2020, to February 28, 2021) compared with the immediately preceding year (March 1, 2019, to February 29, 2020).

    METHODS: We conducted a longitudinal retrospective study across 6 continents, 56 countries, and 275 stroke centers. We collected volume data for COVID-19 admissions and 4 stroke metrics: ischemic stroke admissions, ICH admissions, IVT treatments, and mechanical thrombectomy procedures. Diagnoses were identified by their ICD-10 codes or classifications in stroke databases.

    RESULTS: There were 148,895 stroke admissions in the 1 year immediately before compared with 138,453 admissions during the 1-year pandemic, representing a 7% decline (95% CI [95% CI 7.1-6.9]; p < 0.0001). ICH volumes declined from 29,585 to 28,156 (4.8% [5.1-4.6]; p < 0.0001) and IVT volume from 24,584 to 23,077 (6.1% [6.4-5.8]; p < 0.0001). Larger declines were observed at high-volume compared with low-volume centers (all p < 0.0001). There was no significant change in mechanical thrombectomy volumes (0.7% [0.6-0.9]; p = 0.49). Stroke was diagnosed in 1.3% [1.31-1.38] of 406,792 COVID-19 hospitalizations. SARS-CoV-2 infection was present in 2.9% ([2.82-2.97], 5,656/195,539) of all stroke hospitalizations.

    DISCUSSION: There was a global decline and shift to lower-volume centers of stroke admission volumes, ICH volumes, and IVT volumes during the 1st year of the COVID-19 pandemic compared with the prior year. Mechanical thrombectomy volumes were preserved. These results suggest preservation in the stroke care of higher severity of disease through the first pandemic year.

    TRIAL REGISTRATION INFORMATION: This study is registered under NCT04934020.

  3. Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, et al.
    Autophagy, 2016;12(1):1-222.
    PMID: 26799652 DOI: 10.1080/15548627.2015.1100356
  4. Chen Y, Li H, Ye Z, Găman MA, Tan SC, Zhu F
    Eur J Pharmacol, 2020 Nov 05;886:173458.
    PMID: 32763300 DOI: 10.1016/j.ejphar.2020.173458
    Metformin administration has been reported to influence the carotid intima-media thickness (CIMT) in humans. However, since previously conducted studies have yielded inconsistent results, the exact effect of metformin on CIMT remains unclear. Causes that could lead to inconsistency in reported research could be the duration and dose of the intervention, as well as the sample size. To address this inconsistency, we conducted a systematic review and meta-analysis to evaluate the influence of metformin on CIMT in human subjects. We identified eligible studies by searching several electronic databases (EMBASE, PubMed-MEDLINE, Web of Science and Google Scholar) up to December 12, 2019. Data were pooled using the random-effects model. Combining data from 1087 participants (9 studies), our meta-analysis revealed that the administration of metformin resulted in a significant reduction in CIMT (WMD = -0.049 mm; 95% CI: -0.095, -0.004). Stratified analyses showed that an intervention lasting ≥12 months (WMD: -0.084 mm, 95% CI: -0.145, -0.024) and an intake of metformin ≤1500 mg/day (WMD: -0.081 mm, 95% CI: -0.132, -0.029) resulted in a significantly greater reduction in CIMT. However, an intervention duration of less than 12 months and an intake of metformin ˃1500 mg/day yielded no significant effects on CIMT. The results of the current study confirm that metformin administration is associated with a significant reduction in CIMT. Taking into account that CIMT reflects the burden of atherosclerosis, the clinical utility of metformin might also be related to its anti-atherogenic effects.
  5. Chen Y, Gong Y, Shan L, Tan CY, Al-Furjan MS, Ramesh S, et al.
    Materials (Basel), 2023 Jul 28;16(15).
    PMID: 37570016 DOI: 10.3390/ma16155312
    Cartilage damage is difficult to heal and poses a serious problem to human health as it can lead to osteoarthritis. In this work, we explore the application of biological 3D printing to manufacture new cartilage scaffolds to promote cartilage regeneration. The hydrogel made by mixing sodium alginate (SA) and gelatin (GA) has high biocompatibility, but its mechanical properties are poor. The addition of hydroxyapatite (HA) can enhance its mechanical properties. In this paper, the preparation scheme of the SA-GA-HA composite hydrogel cartilage scaffold was explored, the scaffolds prepared with different concentrations were compared, and better formulations were obtained for printing and testing. Mathematical modeling of the printing process of the bracket, simulation analysis of the printing process based on the mathematical model, and adjustment of actual printing parameters based on the results of the simulation were performed. The cartilage scaffold, which was printed using Bioplotter 3D printer, exhibited useful mechanical properties suitable for practical needs. In addition, ATDC-5 cells were seeded on the cartilage scaffolds and the cell survival rate was found to be higher after one week. The findings demonstrated that the fabricated chondrocyte scaffolds had better mechanical properties and biocompatibility, providing a new scaffold strategy for cartilage tissue regeneration.
  6. Sun Y, Tang H, Du S, Chen Y, Ou Z, Zhang M, et al.
    Eco Environ Health, 2023 Dec;2(4):208-218.
    PMID: 38435359 DOI: 10.1016/j.eehl.2023.08.001
    Indoor microorganisms impact asthma and allergic rhinitis (AR), but the associated microbial taxa often vary extensively due to climate and geographical variations. To provide more consistent environmental assessments, new perspectives on microbial exposure for asthma and AR are needed. Home dust from 97 cases (32 asthma alone, 37 AR alone, 28 comorbidity) and 52 age- and gender-matched controls in Shanghai, China, were analyzed using high-throughput shotgun metagenomic sequencing and liquid chromatography-mass spectrometry. Homes of healthy children were enriched with environmental microbes, including Paracoccus, Pseudomonas, and Psychrobacter, and metabolites like keto acids, indoles, pyridines, and flavonoids (astragalin, hesperidin) (False Discovery Rate 
  7. Jiang H, Zhang J, Zeng Y, Chen Y, Guo H, Li L, et al.
    Nanotechnology, 2021 Nov 18;33(6).
    PMID: 34724657 DOI: 10.1088/1361-6528/ac3540
    Metal sulfides are promising anode materials for lithium ion batteries because of the high specific capacities and better electrochemical kinetics comparing to their oxide counterparts. In this paper, novel monocrystalline wurtzite ZnS@N-doped carbon (ZnS@N-C) nanoplates, whose morphology and phase are different from the common ZnS particles with cubic phase, are successfully synthesized. The ZnS@N-C nanoplates exhibit long cycle life with a high reversible specific capacity of 536.8 mAh · g-1after 500 cycles at a current density of 500 mA · g-1, which is superior to the pure ZnS nanoplates, illustrating the obvious effect of the N-doped carbon coating for mitigating volume change of the ZnS nanoplates and enhancing the electronic conductivity during charge/discharge processes. Furthermore, it is revealed that the ZnS single crystals with wurtzite phase in the ZnS@N-C nanoplates are transformed to the polycrystalline cubic phase ZnS after charge/discharge processes. In particular, the ZnS@N-C nanoplates are combined with the commercial LiNi0.6Co0.2Mn0.2O2cathode to fabricate a new type of LiNi0.6Co0.2Mn0.2O2/ZnS@N-C complete battery, which exhibits good cycling durability up to 120 cycles at a charge/discharge rate of 1 C after the prelithiation treatment on the ZnS@N-C anode, highlighting the potential of the ZnS@N-C nanoplates anode material applied in lithium ion battery.
  8. Chen Y, Yu X, Ma'rof AA, Zaremohzzabieh Z, Abdullah H, Halimatusaadiah Hamsan H, et al.
    Int J Environ Res Public Health, 2022 Dec 11;19(24).
    PMID: 36554527 DOI: 10.3390/ijerph192416645
    (1) Background: The present study investigated the relationships between social identity, core self-evaluation, school adaptation, and mental health problems in migrant children, and the mechanism underlying these relationships; (2) Methods: The participants were migrant middle school students in China. Data analysis was conducted using SPSS version 26. A survey comprising the social identity scale, core self-evaluation scale, school adaptation scale, and mental health scale MMHI-60 was deployed; (3) Results: Findings indicated a significant and negative association between social identity and mental health problems, and such an association was sequentially mediated by core self-evaluation and school adaptation. Furthermore, core self-evaluation and school adaptation played a chain mediation role between social identity and migrant children's mental health problems; (4) Conclusions: It is crucial to improve social identity, core self-evaluation, and school adaptation to reduce mental health problems among this population. Therefore, the research results provide a new direction for promoting the development of mental health education for migrant workers and their children in China.
  9. Sasidharan S, Chen Y, Saravanan D, Sundram KM, Yoga Latha L
    PMID: 22238476
    Natural products from medicinal plants, either as pure compounds or as standardized extracts, provide unlimited opportunities for new drug leads because of the unmatched availability of chemical diversity. Due to an increasing demand for chemical diversity in screening programs, seeking therapeutic drugs from natural products, interest particularly in edible plants has grown throughout the world. Botanicals and herbal preparations for medicinal usage contain various types of bioactive compounds. The focus of this paper is on the analytical methodologies, which include the extraction, isolation and characterization of active ingredients in botanicals and herbal preparations. The common problems and key challenges in the extraction, isolation and characterization of active ingredients in botanicals and herbal preparations are discussed. As extraction is the most important step in the analysis of constituents present in botanicals and herbal preparations, the strengths and weaknesses of different extraction techniques are discussed. The analysis of bioactive compounds present in the plant extracts involving the applications of common phytochemical screening assays, chromatographic techniques such as HPLC and, TLC as well as non-chromatographic techniques such as immunoassay and Fourier Transform Infra Red (FTIR) are discussed.
  10. Leddin D, Omary MB, Veitch A, Metz G, Amrani N, Aabakken L, et al.
    Gut, 2021 11;70(11):2025-2029.
    PMID: 34620696 DOI: 10.1136/gutjnl-2021-325789
  11. Qin D, Gong Q, Li X, Gao Y, Gopinath SCB, Chen Y, et al.
    Biotechnol Appl Biochem, 2023 Apr;70(2):553-559.
    PMID: 35725894 DOI: 10.1002/bab.2377
    Mycoplasma pneumoniae is a highly infectious bacterium and the major cause of pneumonia especially in school-going children. Mycoplasma pneumoniae affects the respiratory tract, and 25% of patients experience health-related problems. It is important to have a suitable method to detect M. pneumoniae, and gold nanoparticle (GNP)-based colorimetric biosensing was used in this study to identify the specific target DNA for M. pneumoniae. The color of GNPs changes due to negatively charged GNPs in the presence of positively charged monovalent (Na+ ) ions from NaCl. This condition is reversed in the presence of a single-stranded oligonucleotide, as it attracts GNPs but not in the presence of double-stranded DNA. Single standard capture DNA was mixed with optimal target DNA that cannot be adsorbed by GNPs; under this condition, GNPs are not stabilized and aggregate at high ionic strength (from 100 mM). Without capture DNA, the GNPs that were stabilized by capture DNA (from 1 μM) became more stable under high ionic conditions and retaining their red color. The GNPs turned blue in the presence of target DNA at concentrations of 1 pM, and the GNPs retained a red color when there was no target in the solution. This method is useful for the simple, easy, and accurate identification of M. pneumoniae target DNA at higher discrimination and without involving sophisticated equipment, and this method provides a diagnostic for M. pneumoniae.
  12. Lin J, Gopinath SCB, Lakshmipriya T, Chen Y, Yuan WR, Yang M
    Int J Biol Macromol, 2019 Dec 01;141:564-569.
    PMID: 31493451 DOI: 10.1016/j.ijbiomac.2019.09.012
    Human papilloma virus (HPV) affects predominantly the genital area, which includes vagina, cervix, penis, vulva scrotum, rectum and anus. Among 100 types of HPV, 14 types are considered to cause the risky cancer. The gene HPV-16 E7 is responsible for the development of cancer with the infected women. Earlier identification of this gene sequence avoids the cancer progression. The targeted HPV-16 E7 sequence was sandwiched by capture and reporter sequences on the carbodiimidazole-modified interdigitated electrode (IDE) surface. Target sequence at 100 f. was paired to the capture sequence immobilized on IDE sensing surface. To this surface, different concentrations of reporter sequence with and without gold rod (GNR) were evaluated. In both cases the detections were attained 1 aM by the reporter sequence pairing and with GNR increments in current were found. This enhancement was found to be 1000 folds, considering the condition was revealed in the absence of reporter. This sandwich detection strategy of capture-target-reporter sequences for HPV-16 detection on the IDE sensing surface helps to diagnose the association of cervical cancer.
  13. Bo S, Chang SK, Chen Y, Sheng Z, Jiang Y, Yang B
    Crit Rev Food Sci Nutr, 2024;64(9):2490-2512.
    PMID: 36123801 DOI: 10.1080/10408398.2022.2124396
    Rare flavonoids, a special subclass of naturally occurring flavonoids with diverse structures including pterocarpans, aurones, neoflavonoids, homoisoflavones, diphenylpropanes, rotenoids and 2-phenylethyl-chromones. They are mainly found in legumes with numerous health benefits. Rare flavonoids are regarded as minor flavonoids due to their very limited abundance in nature. This review gives an overview of the natural occurrences of rare flavonoids from previous literatures. Recent findings on the biosynthesis of rare flavonoids have been updated by describing their structural characteristics and classifications. Recent findings on the health benefits of rare flavonoids have also been compiled and discussed. Natural rare flavonoids with various characteristics from different subclasses from plant-based food sources are stated. They show a wide range of health benefits, including antibacterial, anticancer, anti-osteoporosis and antiviral activities. Studies reviewed suggest that rare flavonoids possessing different skeletons demonstrate different characteristic bioactivities by discussing their mechanism of actions and structure-activity relationships. Besides, recent advances on the biosynthesis of rare flavonoids, such as pterocarpans, rotenoids and aurones are well-known, while the biosynthesis of other subclasses remain unknown. The perspectives and further applications of rare flavonoids using metabolic engineering strategies also be expected.
  14. Wang Z, Li P, Ma K, Chen Y, Campana M, Penfold J, et al.
    J Colloid Interface Sci, 2019 May 15;544:293-302.
    PMID: 30861434 DOI: 10.1016/j.jcis.2019.03.011
    The transition from monolayer to multilayer adsorption at the air-water interface in the presence of multivalent counterions has been demonstrated for a limited range of anionic surfactants which exhibit increased tolerance to precipitation in the presence of multivalent counterions. Understanding the role of molecular structure in determining the transition to surface ordering is an important aspect of the phenomenon. The focus of the paper is on the alkyl ester sulfonate, AES, surfactants; a promising group of anionic surfactants, with the potential for improved performance and biocompatibility. Neutron reflectivity measurements were made in aqueous solution and in the presence of NaCl, CaCl2, MgCl2 and AlCl3, for a range of alkyl ester sulfonate surfactants, in which the headgroup and alkyl chain geometries were manipulated. In the regions of monolayer adsorption changing the AES headgroup and alkyl chain geometries results in an increased saturation adsorption and in a more gradual decrease in the adsorption at low concentrations, consistent with a greater adsorption efficiency. Changing the AES headgroup and alkyl chain geometries also results in changes in the transition from monolayer adsorption to more ordered surface structures with the addition of AlCl3 and mixed multivalent electrolytes. A more limited surface layering is observed for the ethyl ester sulfonate, EES, with a C14 alkyl chain. Replacing the C14 alkyl chain with a C18 isostearic chain results in only monolayer adsorption. The results demonstrate the role and importance of the surfactant molecular structure in determining the nature of the surface adsorption in the presence of different electrolytes, and in the tendency to form extended surface multilayer structures.
  15. Su H, Kanchanatip E, Wang D, Zheng R, Huang Z, Chen Y, et al.
    Waste Manag, 2020 Feb 01;102:520-527.
    PMID: 31765972 DOI: 10.1016/j.wasman.2019.11.018
    In China, waste sorting practice is not strictly followed, plastics, especially food packaging, are commonly mixed in food waste. Supercritical water gasification (SCWG) of unsorted food waste was conducted in this study, using model unsorted food waste by mixture of pure food waste and plastic. Different operating parameters including reaction temperature, residence time, and feedstock concentration were investigated. Moreover, the effect of three representative food additives namely NaCl, NaHCO3 and Na2CO3 were tested in this work. Finally, comparative analysis about SCWG of unsorted food waste, pure food waste, and plastic was studied. It was found that higher reaction temperature, longer residence time and lower feedstock concentration were advantageous for SCWG of unsorted food waste. Within the range of operating parameters in this study, when the feedstock concentration was 5 wt%, the highest H2 yield (7.69 mol/kg), H2 selectivity (82.11%), total gas yield (17.05 mol/kg), and efficiencies of SCWG (cold gas efficiency, gasification efficiency, carbon gasification efficiency, and hydrogen gasification efficiency) were obtained at 480 °C for 75 min. Also, the addition of food additives with Na+ promoted the SCWG of unsorted food waste. The Na2CO3 showed the best catalytic performance on enhancement of H2 and syngas production. This research demonstrated the positive effect of waste sorting on the SCWG of food waste, and provided novel results and information that help to overcome the problems in the process of food waste treatment and accelerate the industrial application of SCWG technology in the future.
  16. Chen Y, Huang J, Yeap ZQ, Zhang X, Wu S, Ng CH, et al.
    Spectrochim Acta A Mol Biomol Spectrosc, 2018 Jun 15;199:271-282.
    PMID: 29626818 DOI: 10.1016/j.saa.2018.03.061
    Anoectochilus roxburghii (Wall.) Lindl. (Orchidaceae) is a precious traditional Chinese medicinal herb and has been perennially used to treat various illness. However, there were unethical sellers who adulterated wild A. roxburghii with tissue cultured and cultivated ones. Therefore, there is an urgent need for an effective authentication method to differentiate between these different types of A. roxburghii. In this research, the infrared spectroscopic tri-step identification approach including Fourier transform infrared spectroscopy (FT-IR), Second derivative infrared spectra (SD-IR) and two-dimensional correlation infrared spectra (2D-IR) was used to develop a simple and rapid method to discriminate between wild, cultivated and tissue cultivated A. roxburghii plant. Through this study, all three types of A. roxburghii plant were successfully identified and discriminated through the infrared spectroscopic tri-step identification method. Besides that, all the samples of wild, cultivated and tissue cultivated A. roxburghii plant were analysed with the Soft Independent Modelling of Class Analogy (SIMCA) pattern recognition technique to test and verify the experimental results. The results showed that the three types of A. roxburghii can be discriminated clearly as the recognition rate was 100% for all three types and the rejection rate was more than 60%. 70% of the validated samples were also identified correctly by the SIMCA model. The SIMCA model was also validated by comparing 70 standard herbs to the model. As a result, it was demonstrated that the macroscopic IR fingerprint method and the classification analysis could discriminate not only between the A. roxburghi samples and the standard herbs, it could also distinguish between the three different types of A. roxburghi plant in a direct, rapid and holistic manner.
  17. Yoon TL, Yeap ZQ, Tan CS, Chen Y, Chen J, Yam MF
    PMID: 34627017 DOI: 10.1016/j.saa.2021.120440
    A proof-of-concept medicinal herbs identification scheme using machine learning classifiers is proposed in the form of an automated computational package. The scheme makes use of two-dimensional correlation Fourier Transformed Infrared (FTIR) fingerprinting maps derived from the FTIR of raw herb spectra as digital input. The prototype package admits a collection of 11 machine learning classifiers to form a voting pool. A common set of oversampled dataset containing 5 different herbal classes is used to train the pool of classifiers on a one-verses-others manner. The collections of trained models, dubbed the voting classifiers, are deployed in a collective manner to cast their votes to support or against a given inference fingerprint whether it belongs to a particular class. By collecting the votes casted by all voting classifiers, a logically designed scoring system will select out the most probable guess of the identity of the inference fingerprint. The same scoring system is also capable of discriminating an inference fingerprint that does not belong to any of the classes the voting classifiers are trained for as the 'others' type. The proposed classification scheme is stress-tested to evaluate its performance and expected consistency. Our experimental runs show that, by and large, a satisfactory performance of the classification scheme of up to 90 % accuracy is achieved, providing a proof-of-concept viability that the proposed scheme is a feasible, practical, and convenient tool for herbal classification. The scheme is implemented in the form of a packaged Python code, dubbed the "Collective Voting" (CV) package, which is easily scalable, maintained and used in practice.
  18. Shi W, Massaia A, Louzada S, Banerjee R, Hallast P, Chen Y, et al.
    Hum Genet, 2018 Jan;137(1):73-83.
    PMID: 29209947 DOI: 10.1007/s00439-017-1857-9
    We describe the variation in copy number of a ~ 10 kb region overlapping the long intergenic noncoding RNA (lincRNA) gene, TTTY22, within the IR3 inverted repeat on the short arm of the human Y chromosome, leading to individuals with 0-3 copies of this region in the general population. Variation of this CNV is common, with 266 individuals having 0 copies, 943 (including the reference sequence) having 1, 23 having 2 copies, and two having 3 copies, and was validated by breakpoint PCR, fibre-FISH, and 10× Genomics Chromium linked-read sequencing in subsets of 1234 individuals from the 1000 Genomes Project. Mapping the changes in copy number to the phylogeny of these Y chromosomes previously established by the Project identified at least 20 mutational events, and investigation of flanking paralogous sequence variants showed that the mutations involved flanking sequences in 18 of these, and could extend over > 30 kb of DNA. While either gene conversion or double crossover between misaligned sister chromatids could formally explain the 0-2 copy events, gene conversion is the more likely mechanism, and these events include the longest non-allelic gene conversion reported thus far. Chromosomes with three copies of this CNV have arisen just once in our data set via another mechanism: duplication of 420 kb that places the third copy 230 kb proximal to the existing proximal copy. Our results establish gene conversion as a previously under-appreciated mechanism of generating copy number changes in humans and reveal the exceptionally large size of the conversion events that can occur.
  19. Shi W, Louzada S, Grigorova M, Massaia A, Arciero E, Kibena L, et al.
    Hum Mol Genet, 2019 08 15;28(16):2785-2798.
    PMID: 31108506 DOI: 10.1093/hmg/ddz101
    Human RBMY1 genes are located in four variable-sized clusters on the Y chromosome, expressed in male germ cells and possibly associated with sperm motility. We have re-investigated the mutational background and evolutionary history of the RBMY1 copy number distribution in worldwide samples and its relevance to sperm parameters in an Estonian cohort of idiopathic male factor infertility subjects. We estimated approximate RBMY1 copy numbers in 1218 1000 Genomes Project phase 3 males from sequencing read-depth, then chose 14 for valid ation by multicolour fibre-FISH. These fibre-FISH samples provided accurate calibration standards for the entire panel and led to detailed insights into population variation and mutational mechanisms. RBMY1 copy number worldwide ranged from 3 to 13 with a mode of 8. The two larger proximal clusters were the most variable, and additional duplications, deletions and inversions were detected. Placing the copy number estimates onto the published Y-SNP-based phylogeny of the same samples suggested a minimum of 562 mutational changes, translating to a mutation rate of 2.20 × 10-3 (95% CI 1.94 × 10-3 to 2.48 × 10-3) per father-to-son Y-transmission, higher than many short tandem repeat (Y-STRs), and showed no evidence for selection for increased or decreased copy number, but possible copy number stabilizing selection. An analysis of RBMY1 copy numbers among 376 infertility subjects failed to replicate a previously reported association with sperm motility and showed no significant effect on sperm count and concentration, serum follicle stimulating hormone (FSH), luteinizing hormone (LH) and testosterone levels or testicular and semen volume. These results provide the first in-depth insights into the structural rearrangements underlying RBMY1 copy number variation across diverse human lineages.
  20. Shang X, Peng Z, Ye Y, Asan, Zhang X, Chen Y, et al.
    EBioMedicine, 2017 Sep;23:150-159.
    PMID: 28865746 DOI: 10.1016/j.ebiom.2017.08.015
    Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting the coding regions of hemoglobin genes and four modifier genes was designed. We validated the assay by using 2522 subjects affected with hemoglobinopathies and applied it to carrier testing in a cohort of 10,111 couples who were also screened through traditional methods. In the clinical genotyping analysis of 1182 β-thalassemia subjects, we identified a group of additional variants that can be used for accurate diagnosis. In the molecular screening analysis of the 10,111 couples, we detected 4180 individuals in total who carried 4840 mutant alleles, and identified 186 couples at risk of having affected offspring. 12.1% of the pathogenic or likely pathogenic variants identified by our NGS assay, which were undetectable by traditional methods. Compared with the traditional methods, our assay identified an additional at-risk 35 couples. We describe a comprehensive NGS-based test that offers advantages over the traditional screening/molecular testing methods. To our knowledge, this is among the first large-scale population study to systematically evaluate the application of an NGS technique in carrier screening and molecular diagnosis of hemoglobinopathies.
Filters
Contact Us

Please provide feedback to Administrator (afdal@afpm.org.my)

External Links