Comparison on emulsifying and emulgelling properties of low methoxyl pectin with varied degree of methoxylation from different de-esterification methods.

Low methoxyl pectin (LMP) with different degree of methoxylation (DM, 40-50 %, 20-30 % and 5-10 %) were prepared from commercially available citrus pectin using high hydrostatic pressure assisted enzymatic (HHP-pectin) and traditional alkaline (A-pectin) de-esterification method. The results showed that both de-esterification methods and DM exhibited LMPs with varied physicochemical, structural, and functional properties. As the DM decreased, LMP showed a decrease in molecular weight (Mw), while an increase in negative charges and rhamnogalacturonan I (RG-I) ratio, accompanied with better emulsion stability, emulsion gel strength and water-holding properties. Relative to A-pectin, HHP-pectin had higher Mw and lower RG-I side chain ratio, contributing to its better thermal stability, apparent viscosity, and emulgelling properties. HHP-pectin with lower DM (5-10 %) showed superior thickening, emulsifying and emulgelling properties, while that with higher DM (40-45 %) had superior thermal stability, which provided alternative for de-esterification and targeted structural modification of pectin.

Knowledge mapping of surgical smoke from 2003 to 2022: a bibliometric analysis.

PURPOSE: The purpose of this study is to identify and characterize the literature on surgical smoke, visualize the data and sketch a certain trending outline. METHODS: In the Web of Science Core Collection (WoSCC), all the data were acquired from January 1st 2003 to December 31st 2022. VOSviewer and CiteSpace were employed to visualize data, based on publications, bibliographic coupling, co-citation, or co-authorship relations. Microsoft Excel 2019 was used to comb and categorize all the statistics. RESULT: A total 363 of journal papers were retrieved. The publication number was in a slow but steady growth between 2003 and 2019, followed by a sharp surge in 2020, and then the publication kept in a productive way. Surgical endoscopy and other interventional techniques was the most active journal on surgical smoke. USA played an important role among all the countries/regions. There were 1847 authors for these 363 papers, among whom 44 authors published more than three articles on surgical smoke. "Surgical smoke", "covid-19" and "surgery" were the top 3 appeared keywords, while the latest hot-spot keywords were "COVID-19", "virus", "transmission", "exposure" and "risk". There were 1105 co-cited references and 3786 links appeared in all 363 articles. Among them, 38 references are cited more than 10 times. The most co-cited article was "Detecting hepatitis B virus in surgical smoke emitted during laparoscopic surgery." Based on the titles of references and calculated by CiteSpace, the top 3 cluster trend network are "laparoscopic surgery", "COVID-19 pandemic" and "surgical smoke". CONCLUSION: According to bibliometric analysis, the research on surgical smoke has been drawing attention of more scholars in the world. Increasing number of countries or regions added in this field, and among them, USA, Italy, and China has been playing important roles, however, more wide and intense cooperation is still in expectation.

Rare earth element behaviors of groundwater in overlying aquifers under the influence of coal mining in northern Ordos Basin, China.

Rare earth elements (REEs) have been used as tracers to reveal the hydrochemical sources and processes in groundwater systems that are usually modified by anthropogenic inputs. However, the REE behaviors in groundwater affected by mining activities have yet to be fully understood. In combination of REE geochemistry with general hydrochemical and isotopic (δ2H and δ18O) methods, this study investigated the concentration and fractionation of REEs in alkaline groundwater from two coal mines with similar aquifer lithology but different mining histories in the Northern Ordos Basin. One of the coal mines started mining in March 2009 (Ningtiaota coal mine, NTT), while the other started mining in December 2018 (Caojiatan coal mine, CJT). Results show that the primary hydrochemical type is HCO3-Ca in NTT groundwater with pH value ranging between 7.68 and 8.60, while CJT groundwater was dominated by the HCO3-Na type with higher pH of 9.09-10.00. The average values of ΣREEs were lower, and the NASC-normalized pattern reflected more intense fractionation in NTT groundwater than those in CJT groundwater. The evident differences are caused by the distinctions in water-rock interaction, complexation of inorganic species, and adsorption of REEs in NTT and CJT groundwater. Furthermore, these processes were closely related to the pH of groundwater that was different in two coal mines, which is likely linked to the different durations of coal mining activities that led to differences in development of rock fractures and pyrite oxidation. It is expected that REEs, combined with other indicators such as pH, can be used to trace and help better understand the hydrochemical changes in groundwater caused by mining.

The cerebral lymphatic drainage system and its implications in epilepsy.

The central nervous system has long been thought to lack a clearance system similar to the peripheral lymphatic system. Therefore, the clearance of metabolic waste in the central nervous system has been a subject of great interest in neuroscience. Recently, the cerebral lymphatic drainage system, including the parenchymal clearance system and the meningeal lymphatic network, has attracted considerable attention. It has been extensively studied in various neurological disorders. Solute accumulation and neuroinflammation after epilepsy impair the blood-brain barrier, affecting the exchange and clearance between cerebrospinal fluid and interstitial fluid. Restoring their normal function may improve the prognosis of epilepsy. However, few studies have focused on providing a comprehensive overview of the brain clearance system and its significance in epilepsy. Therefore, this review addressed the structural composition, functions, and methods used to assess the cerebral lymphatic system, as well as the neglected association with epilepsy, and provided a theoretical basis for therapeutic approaches in epilepsy.

Comparison of intrathecal low-dose bupivacaine and morphine with intravenous patient control analgesia for postoperative analgesia for video-assisted thoracoscopic surgery.

BACKGROUND: Thoracoscopic surgical techniques continue to advance, yet the intensity of postoperative pain remains significant, impeding swift patient recovery. This study aimed to evaluate the differences in postoperative pain and recuperation between patients receiving intrathecal morphine paired with low-dose bupivacaine and those administered general anesthesia exclusively. METHODS: This randomized controlled trial enrolled 100 patients, who were allocated into three groups: Group M (5 µg/kg morphine intrathecal injection), Group B (5 µg/kg morphine combined with bupivacaine 3 mg intrathecal injection) and Group C (intrathecal sham injection). The primary outcome was the assessment of pain relief using the Numeric Rating Scale (NRS). Additionally, intraoperative remifentanil consumption was quantified at the end of the surgery, and postoperative opioid use was determined by the number of patient-controlled analgesia (PCIA) compressions at 48 h post-surgery. Both the efficacy of the treatments and any complications were meticulously recorded. RESULTS: Postoperative NRS scores for both rest and exercise at 6, 12, 24, and 48 h were significantly lower in groups M and B than in group C (P<0.05). The intraoperative remifentanil dosage was significantly greater in groups M and C than in group B (P<0.05), while there was no significant difference between groups M and C (P>0.05). There was no significant difference in intraoperative propofol dosage across all three groups (P>0.05). Postoperative dosages of both sufentanil and Nonsteroidal anti-inflammatory drugs (NSAIDs) were significantly less in groups M and B compared to group C (P<0.05). The time of first analgesic request was later in both groups M and B than in group C (P<0.05). Specific and total scores were elevated at 2 days postoperative when compared to scores at 1 day for all groups (P<0.05). Furthermore, at 1 day and 2 days postoperatively, both specific scores and total scores were higher in groups M and B compared to group C (P<0.05). CONCLUSION: Intrathecal administration of morphine combined with bupivacaine has been shown to effectively ameliorate acute pain in patients undergoing thoracoscopic surgery. TRIAL REGISTRATION: The trial was registered on ClinicalTrials.gov: ChiCTR2200058544, registered 10/04/2022.

Excipient emulsion prepared with pectin and sodium caseinate to improve the bioaccessibility of carotenoids in mandarin juice: The effect of emulsifier and polymer concentration.

Excipient emulsions were prepared using different emulsifiers (pectin and sodium caseinate, individually or compositely) to study the emulsifying properties and their co-digested effects on the retention and bioaccessibility of carotenoids in mandarin juice, which is a good source of carotenoids in people's diet. Results showed that both pectin (PC) and pectin-sodium caseinate (PC-SC) emulsion significantly increased the carotenoids retention and bioaccessibility of mandarin juice, with the effects depending on both emulsifiers and polymer concentration. Whether for PC or PC-SC emulsion, lower pectin content accompanied with lower viscosity showed higher carotenoids bioaccessibility. And for the complexed emulsions, appropriate sodium caseinate addition could be more beneficial in improving carotenoids bioaccessibility. It had been found that the viscosity comparing with particle size seemed to play a more important role in affecting carotenoid bioaccessibility during the co-digestion. This study could provide a basis for improving the carotenoids bioaccessibility in the real system of fruits and vegetables with excipient emulsions.

Clinical effect of glucosamine hydrochloride combined with compound osteopeptide injection for knee osteoarthritis.

Objective: To investigate the clinical efficacy of glucosamine hydrochloride combined with compound osteopeptide injection for knee osteoarthritis (KOA). Methods: We retrospectively collected clinical data of 82 patients with KOA admitted to Shandong Weifang People's Hospital from April 2019 to September 2022. According to the treatment records, 35 patients received an intramuscular injection of compound osteopeptide (control group), and 47 patients received an injection of glucosamine hydrochloride combined with compound osteopeptide (observation group). We compared clinical efficacy, WOMAC scores, inflammatory factor and CD4+ and CD8+ levels, and the incidence of adverse reactions between the two groups. Results: The observation group's total efficacy (95.74%) was significantly higher than the control group's (80.00%; P<0.05). Treatment led to a significant reduction in WOMAC scores in both groups. In addition, the levels of tumor necrosis factor (TNF-α) and interleukin-6 (IL-6) in the observation group were significantly lower than those in the control group (P<0.05); while the levels of CD4+ and CD8+ were significantly higher in the observation group (P<0.05). Conclusions: Compared with compound osteopeptide injection alone, glucosamine hydrochloride combined with compound osteopeptide injection is more effective for patients with KOA, with improved level of inflammatory factors and immune function.

Effect of sub-pixel multiplexing on the display quality of LED display.

In this paper, a theoretical model is presented for the display process of uniformly-arranged virtual-pixel LED displays with RGBG sub-pixel structure cells. Such displays' modulation transfer function (MTF) is derived theoretically from this model. Experiments were conducted to validate the theoretical model to measure the MTF of virtual-pixel displays and traditional real-pixel displays with a pixel pitch of 0.9 mm. A dual-line spread function measurement method is proposed, which is experimentally shown to be more effective than the conventional single-line LSF measurement method in measuring the MTF of LED displays. The rationality of the theoretical model was analyzed and compared through experiments. Furthermore, a combined subjective and objective evaluation method for the image quality of LED sub-pixel displays is proposed, which analyses the effect of LED sub-pixel multiplexing on the display clarity based on the square root integration method and achieves the subjective goal of quantifying the LED display quality. The research results reveal the theoretical and experimental aspects of virtual-pixel displays and may have practical significance for the design of high-quality LED displays.

Potential role of cell wall pectin polysaccharides, water state, and cellular structure on twice "increase-decrease" texture changes during kohlrabi pickling process.

Pickled kohlrabi is a traditional and favored vegetable product in China. During pickling, the hardness, springiness, and chewiness of kohlrabi all experienced a typical change with twice "increase-decrease" trend. However, little is known about its mechanism. In this study, in situ analysis including immunofluorescence, low field nuclear magnetic, and transmission electron microscopy were used to explore the effects of cell wall pectin, water state, and cellular structure on kohlrabi texture changes during pickling. Results revealed that at the early stage, due to the rapid loss of water after three times salting, the cells shrank and the interstitial space reduced, resulting in the first increase on kohlrabi texture. Subsequently, the dehydration-rehydration caused by the first brine processing resulted in the first decrease on kohlrabi texture. Then under the action of PME enzyme, more low-esterified pectin was produced, and chelate-soluble pectin with more branched structure was further formed, leading to another elevation of the sample texture. As the pickling continued, under the combined action of PG and PME, the molecular weight of pectin was decreased and the rigidity of the cell tissue was destroyed, caused kohlrabi texture continued to decline. These researches could provide important information and guidance for better maintaining the texture of pickled vegetables during processing.

Exploring the application of sildenafil for high-fat diet-induced erectile dysfunction based on interleukin-18-mediated NLRP3/Caspase-1 signaling pathway.

Background: Inflammation is a key risk factor for heart disease and has also been linked to erectile dysfunction (ED). Sildenafil is a phosphodiesterase type 5 inhibitor with a strong antioxidant effect. Interleukin (IL)-18 is a proinflammatory factor. Excessive production and release of IL-18 disrupt the balance between IL-18 and IL-18 binding proteins in certain inflammatory diseases, leading to the occurrence of pathological inflammation. Aim: We evaluated the effects of sildenafil on erectile function in a rat model of high-fat diet-induced ED. Methods: Male Sprague Dawley rats (6 weeks old) were divided into 5 groups: control, ED, sildenafil, IL-18, and IL-18 + sildenafil. Subsequently, intracavernous pressure and mean arterial pressure were used to assess the erectile function of these rats. The expression of endothelial nitric oxide synthase, pyroptosis factors, and the ratio of smooth muscle cells and collagen fibers were evaluated in the serum and corpora tissue. Outcomes: Exploring the role and mechanism of sildenafil in ED through NLRP3-mediated pyroptosis pathway. Results: In comparison to the ED and IL-18 groups, there were statistically significant increases in the ratio of intracavernous pressure to mean arterial pressure, endothelial nitric oxide synthase expression, and the ratio of smooth muscle cells to collagen fibers following sildenafil intervention (P < .05). The sildenafil group and IL-18 + sildenafil group also showed statistically significant decreases the expression of NLRP3, caspase-1, and gasdermin D (P < .05). Clinical Implications: Sildenafil can improve erectile dysfunction by inhibiting inflammation. Strengths and Limitations: Strengths are that the relationship between pyroptosis and ED has been verified through in vitro and in vivo experiments. The limitation is that the conclusions drawn from animal and cells experiments need to be confirmed in clinical research. Conclusion: Sildenafil may reduce the effect of IL-18-induced inflammation in high-fat diet-induced ED rats through NLRP3/caspase-1 pyroptosis pathway.

Pyroptosis and inflammation­mediated endothelial dysfunction may act as key factors in the development of erectile dysfunction (Review).

Erectile dysfunction (ED) is a prevalent disease that causes sexual dysfunction in males. Inflammation­induced endothelial dysfunction is a fundamental pathophysiological symptom of ED, which is impacted by cell death. Pyroptosis is a type of programmed cell death mediated by the inflammasome that was discovered in inflammatory disorders. The activation of nucleotide­binding oligomerization domain­like receptors, particularly downstream inflammatory factors, such as IL­1ß and IL­18, is indicative of caspase­dependent pyroptosis. Although the underlying mechanisms of pyroptosis have been investigated in several disorders, the role of pyroptosis in ED remains to be fully elucidated. At present, studies on pyroptosis have focused on improving the understanding of ED pathogenesis and promoting the development of novel therapeutic options. The present review article aimed to discuss the literature surrounding the mechanisms underlying pyroptosis, and summarize the role of pyroptosis in the development and progression of inflammation­mediated ED.

Real-World Safety and Effectiveness of Omalizumab in Moderate to Severe Allergic Asthma Patients in China: A Post-Authorization Study.

Purpose: Omalizumab was first approved in China in 2017 for the treatment of moderate to severe allergic asthma for adult and adolescent patients aged ≥12 years. In accordance with the Chinese Health Authority requirement, the post-authorization safety study (PASS) was conducted to evaluate the safety and effectiveness of omalizumab in a real-world setting in patients with moderate to severe allergic asthma in China over a 24-week observation period. Patients and Methods: This is a single-arm, non-interventional, multicenter, PASS conducted in adult, adolescent, and pediatric patients (≥6 years old) with moderate to severe allergic asthma receiving omalizumab in a real-world clinical setting from 2020 to 2021 in 59 sites of mainland China. Results: In total, 1546 patients were screened and 1528 were enrolled. They were stratified according to age (6 to <12 years [n = 191]; ≥12 years [n = 1336]; unknown [n = 1]). Among the overall population, 23.6% and 4.5% of patients reported adverse events (AEs) and serious adverse events (SAEs), respectively. Among pediatric patients (6 to <12 years), 14.1% and 1.6% patients reported AEs and SAEs, respectively. AEs that led to treatment discontinuation in both age groups were <2%. No new safety signals were reported. Effectiveness results showed improvement in lung function, asthma control, and quality of life (QoL). Conclusion: The findings of the current study demonstrated that the safety profile of omalizumab was consistent with its known profile in allergic asthma, and no new safety signals were reported. Omalizumab treatment was effective in improving the lung function and QoL in patients with allergic asthma.

Clinical characteristics and prognostic factors for short-term outcomes of autoimmune glial fibrillary acidic protein astrocytopathy: a retrospective analysis of 33 patients.

Background: Autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A) is a recently discovered inflammatory central nervous system (CNS) disease, whose clinical characteristics and prognostic factors for short-term outcomes have not been defined yet. We aimed to assess the symptoms, laboratory tests, imaging findings, treatment, and short-term prognosis of GFAP-A. Methods: A double-center retrospective cohort study was performed between May 2018 and July 2022. The clinical characteristics and prognostic factors for short-term outcomes were determined. Results: We enrolled 33 patients with a median age of 28 years (range: 2-68 years), 15 of whom were children (<18 years). The clinical spectrum is dominated by meningoencephalomyelitis. Besides, we also found nausea, vomiting, poor appetite, and neuropathic pain in some GFAP-A patients, which were not mentioned in previous reports. And adults were more prone to limb numbness than children. Magnetic resonance imaging revealed lesions involving the brain parenchyma, meninges, and spinal cord, exhibiting patchy, linear, punctate, and strip T2 hyperintensities. First-line immunotherapy, including corticosteroid and gamma globulin, was effective in most patients in the acute phase (P = 0.02). However, patients with overlapping AQP4 antibodies did not respond well to first-line immunotherapy and coexisting neural autoantibodies were more common in women. Additionally, the short-term prognosis was significantly better in children than in adults (P = 0.04). Positive non-neural autoantibodies and proven viral infection were independent factors associated with poor outcomes (P = 0.03, 0.02, respectively). Conclusion: We expanded the spectrum of clinical symptoms of autoimmune GFAP-A. The clinical symptoms and short-term prognosis differed between children and adults. Positive non-neural autoantibodies and proven viral infection at admission suggest a poor short-term prognosis.

Situation analysis and blood transfusion strategy of Lewis antibodies in Hunan Province.

BACKGROUND: Detection rate, serological characteristics, and clinical data of patients with Lewis blood group antibodies in Hunan Province were analyzed through retrospective analysis. This was undertaken in order to optimize the detection methods and blood transfusion strategies of these patients. METHODS: Blood typing, antibody screening, and cross-matching were performed by microcolumn gel, and Lewis antigen was detected by immediate spin test, antibody identification of positive and negative ABO samples, positive antibody screening, and cross-blood mismatch samples. Antibodies were identified by immediate spin test and microcolumn gel antiglobulin method, and the clinical data of the patients with Lewis antibody characteristics were analyzed. RESULTS: A total of 74 samples (15.91%) with Lewis antibodies were detected from 465 positive samples; cases were distributed in different cities of Hunan Province, with Changsha city being the most frequent (28%) one, with mostly non-O (66), anti-Lea (31; 41.89%), anti-Lea+anti-Leb (23; 31.08%), anti-Leb (5; 6.76%), anti-LebH and anti-Lea+anti-LebH (1+4; 6.76%), and antibody types immunoglobulin M (IgM) (51; 68.92%), immunoglobulin G (8; 10.81%), and IgG+IgM (4; 5.41%) cases. Patients included more females (67.57%) than males. The detection rate of gynecological diseases and patients with solid tumors was highest (44.59%). In all cases, the Lewis blood group was Le (a-b-); none of the 15 transfusion patients had hemolytic transfusion reaction. CONCLUSION: A variety of experimental methods must be adopted simultaneously to determine specificity and prevent the leakage of Lewis antibodies. The infusion of red blood cells matching with antiglobulin media at 37°C was recommended to ensure safe transfusion for recipients with Lewis antibodies.

Identification of the active ingredients and pharmacological effects of Kuntai capsules in the treatment of primary ovarian insufficiency: A review.

Kuntai capsules are effective in controlling primary ovarian insufficiency (POI). However, the precise mechanisms underlying the pharmacological effects of Kuntai capsules remain unclear. This study aimed to screen the active components and underlying mechanisms of Kuntai capsules for POI treatment using network pharmacology protocols and molecular docking technology. Potential active constituents in the chemical composition of Kuntai capsules were obtained from the Traditional Chinese Medicine System Pharmacology Database. Targets for POI were obtained from the Online Mendelian Inheritance in Man and Gene Cards database. All target data were integrated to identify the active ingredients of POI treatment. Enrichment analyses were performed using the Database for Annotation, Visualization, and Integrated Discovery database. The STRING database and Cytoscape software were used for protein-protein interaction network construction and core target identification. Finally, a molecular docking analysis of the active components and core targets was performed. A total of 157 ingredients related to POI were identified. Enrichment analysis showed that these components might participate in the mitogen-activated protein kinase, tumor necrosis factor, phosphoinositide-3-kinase/AKT serine/threonine kinase 1, and forkhead box O signaling pathways. Further protein-protein interaction network analysis revealed that the core targets were Jun proto-oncogene, AKT serine/threonine kinase 1, tumor protein P53, interleukin 6, and the epidermal growth factor receptor. Molecular docking analysis showed that baicalein was the most active ingredient with the highest affinity for the core targets. This study identified baicalein as the core functional component and elucidated the potential pharmacological effects of Kuntai capsule in the treatment of POI.

Emulsifying properties, in vitro digestive characteristics, and ß-carotene bioaccessibility of mandarin peel pectin emulsions prepared with different carrier oil phases.

Mandarin peel pectin (MPP) emulsions were prepared with different oil phase loadings with or without ß-carotene, and their emulsifying characteristics, digestive properties and ß-carotene bioaccessibility were investigated. Results revealed that all MPP emulsions exhibited good loading efficiency for ß-carotene, while their apparent viscosity and interfacial pressure (π) of MPP emulsions increased significantly after the addition of ß-carotene. Emulsification of MPP emulsions as well as digestibility were significantly dependent on the kind of oil. MPP emulsions prepared with long-chain triglycerides (LCT) oil (soybean, corn, and olive oil) exhibited higher volume average particle size (D4,3), apparent viscosity, π values, and bioaccessibility of carotene compared to those prepared with medium-chain oils (MCT). MPP emulsions with LCT rich in monosaturated fatty acids (olive oil) had the highest ß-carotene encapsulation efficiency, bioaccessibility, etc. than from other oils. This study provides a theoretical basis for the efficient encapsulation and high bioaccessibility of carotenoids with pectin emulsions.

OsMADS17 simultaneously increases grain number and grain weight in rice.

During the processes of rice domestication and improvement, a trade-off effect between grain number and grain weight was a major obstacle for increasing yield. Here, we identify a critical gene COG1, encoding the transcription factor OsMADS17, with a 65-bp deletion in the 5' untranslated region (5' UTR) presented in cultivated rice increasing grain number and grain weight simultaneously through decreasing mRNA translation efficiency. OsMADS17 controls grain yield by regulating multiple genes and that the interaction with one of them, OsAP2-39, has been characterized. Besides, the expression of OsMADS17 is regulated by OsMADS1 directly. It indicates that OsMADS1-OsMADS17-OsAP2-39 participates in the regulatory network controlling grain yield, and downregulation of OsMADS17 or OsAP2-39 expression can further improve grain yield by simultaneously increasing grain number and grain weight. Our findings provide insights into understanding the molecular basis co-regulating rice yield-related traits, and offer a strategy for breeding higher-yielding rice varieties.

Situation analysis and blood transfusion strategy of Lewis antibodies in Hunan Province

Background: Detection rate, serological characteristics, and clinical data of patients with Lewis blood group antibodies in Hunan Province were analyzed through retrospective analysis. This was undertaken in order to optimize the detection methods and blood transfusion strategies of these patients. Methods: Blood typing, antibody screening, and cross-matching were performed by microcolumn gel, and Lewis antigen was detected by immediate spin test, antibody identification of positive and negative ABO samples, positive antibody screening, and cross-blood mismatch samples. Antibodies were identified by immediate spin test and microcolumn gel antiglobulin method, and the clinical data of the patients with Lewis antibody characteristics were analyzed. Results: A total of 74 samples (15.91%) with Lewis antibodies were detected from 465 positive samples; cases were distributed in different cities of Hunan Province, with Changsha city being the most frequent (28%) one, with mostly non-O (66), anti-Lea (31; 41.89%), anti-Lea+anti-Leb (23; 31.08%), anti-Leb (5; 6.76%), anti-LebH and anti-Lea+anti-LebH (1+4; 6.76%), and antibody types immunoglobulin M (IgM) (51; 68.92%), immunoglobulin G (8; 10.81%), and IgG+IgM (4; 5.41%) cases. Patients included more females (67.57%) than males. The detection rate of gynecological diseases and patients with solid tumors was highest (44.59%). In all cases, the Lewis blood group was Le (a-b-); none of the 15 transfusion patients had hemolytic transfusion reaction. Conclusion: A variety of experimental methods must be adopted simultaneously to determine specificity and prevent the leakage of Lewis antibodies. The infusion of red blood cells matching with antiglobulin media at 37°C was recommended to ensure safe transfusion for recipients with Lewis antibodies (AU)

Test development, optimization and validation of a WGS pipeline for genetic disorders.

BACKGROUND: With advances in massive parallel sequencing (MPS) technology, whole-genome sequencing (WGS) has gradually evolved into the first-tier diagnostic test for genetic disorders. However, deployment practice and pipeline testing for clinical WGS are lacking. METHODS: In this study, we introduced a whole WGS pipeline for genetic disorders, which included the entire process from obtaining a sample to clinical reporting. All samples that underwent WGS were constructed using polymerase chain reaction (PCR)-free library preparation protocols and sequenced on the MGISEQ-2000 platform. Bioinformatics pipelines were developed for the simultaneous detection of various types of variants, including single nucleotide variants (SNVs), insertions and deletions (indels), copy number variants (CNVs) and balanced rearrangements, mitochondrial (MT) variants, and other complex variants such as repeat expansion, pseudogenes and absence of heterozygosity (AOH). A semiautomatic pipeline was developed for the interpretation of potential SNVs and CNVs. Forty-five samples (including 14 positive commercially available samples, 23 laboratory-held positive cell lines and 8 clinical cases) with known variants were used to validate the whole pipeline. RESULTS: In this study, a whole WGS pipeline for genetic disorders was developed and optimized. Forty-five samples with known variants (6 with SNVs and Indels, 3 with MT variants, 5 with aneuploidies, 1 with triploidy, 23 with CNVs, 5 with balanced rearrangements, 2 with repeat expansions, 1 with AOHs, and 1 with exon 7-8 deletion of SMN1 gene) validated the effectiveness of our pipeline. CONCLUSIONS: This study has been piloted in test development, optimization, and validation of the WGS pipeline for genetic disorders. A set of best practices were recommended using our pipeline, along with a dataset of positive samples for benchmarking.