Origin of the presence/absence variation of the LTIA1/LTIA2 mini-ribonucleaseⅢgenes required for low-temperature growth in rice

A rice low temperature-induced albino variant was determined by the recessive ltia1 and ltia2 genes.LTIA1 and LTIA2 encode highly conserved mini-ribonucleasesⅢlocated in chloroplasts and expressed in aerial parts of the plant.At low temperature,LTIA1 and LTIA2 redundantly affect chlorophyll levels,non-photochemical quenching,photosynthetic quantum yield of PSⅡand seedling growth.LTIA1 and LTIA2 proteins are involved in splicing of atp F and the biogenesis of 16S and 23S rRNA in chloroplasts.Presence/absence variation of LTIA1,the ancestral copy,was found only in japonica but that of LTIA2 in all rice subgroups.Accessions with LTIA2 presence tended to be distributed more remote from the equator compared to those with LTIA2 absence.LTIA2 duplicated from LTIA1 at the early stage of divergence of the AA genome Oryza species but deleted againin O.nivara.In cultivated rice,absence of LTIA2 is derived from O.nivara.LTIA1 absence occurred more recently in japonica.

Remembering,Forgetting,and Absencing Disasters in the Post-disaster Recovery Process

Sustainable post-disaster recovery implies learning from past experience in order to prevent recreating forms of vulnerability.Memory construction supports both the healing process and redevelopment plans.Hence,memory of disaster results from the balance between remembering,forgetting,and absencing elements of the disaster,and can be both a tool and an obstacle to sustainable recovery.We explore here how collective memory is built in a post-disaster context to respond to the needs of this critical period,and how it shapes recovery.This ethnographic study,conducted between 2015 and 2017,explores the recovery processes in Montserrat,a small Caribbean island affected by an extended volcanic crisis from 1995 to 2010.Although this study does not give tangible solutions for disaster risk reduction in a post-disaster context,it highlights potential obstacles for learning from a disaster and how they may be surmounted.We argue that it is crucial to acknowledge evolving collective memory in order to implement effective measures for preserving and sharing a shared understanding of disaster across generations and social groups in a way that supports disaster risk awareness.We also maintain that acknowledging the dilemma faced by authorities and disaster management agencies during a period of conflicting needs may encourage the reconsideration of risk framing,and hence reveal how to improve implementation of disaster risk reduction measures.

The Relationship between Father-Love Absence and Loneliness:Based on the Perspective of the Social Functionalist Theory and the Social Needs Theory

Fathers play an important role in adolescents’development,which is significant for their development and influences their mental health,including feeling of loneliness.However,the effects and mechanisms of father-love absence on individual loneliness are not clear.Based on the social functionalist theory and the social needs theory,this study examines the influence of individual fatherlove absence on loneliness and its underlying mechanisms.A questionnaire survey was administered to 319 junior high school students and 1,476 high school students.The results showed that adolescents with father-love absence had higher levels of loneliness,and that father-love absence affected loneliness levels through mediating pathways of individual gratitude,peer relationships,and gratitude to peer relationships.This study not only confirms the negative effects of father-love absence on adolescents’loneliness,but also explains the mediate roles of individual gratitude and peer relationships.It enriches the theoretical system related to family education and has important theoretical and practical implications for further interventions on adolescents’mental health from the perspective of fatherless parenting.

Analysis of Safety Assessment and Testing of Heavy Traffic Vehicles on Old Bridges Without Data

This article presents a real-life project that aimed to evaluate the safety of traffic vehicles on old bridges without any prior data.The project involved various safety inspections,including conventional,static,and dynamic load inspections and safety assessments.After conducting these tests,it was concluded that the structure of the old bridge is relatively safe,with only a few bumps.The bridge could function normally following appropriate treatment.The analysis provides valuable insights into the assessment of the quality and safety of such bridges to ensure the safe driving of heavy vehicles.

Better performance of PIVKA-II for detecting hepatocellular carcinoma in patients with chronic liver disease with normal total bilirubin

BACKGROUND Serum protein induced by vitamin K absence or antagonist-Ⅱ(PIVKA-Ⅱ) is a promising biomarker for hepatocellular carcinoma(HCC) surveillance.AIM To identify the contributing factors related to the abnormal elevation of PIVKA-Ⅱ level and assess their potential influence on the performance of PIVKA-Ⅱ in detecting HCC.METHODS This study retrospectively enrolled in 784 chronic liver disease(CLD) patients and 267 HCC patients in Mengchao Hepatobiliary Hospital of Fujian Medical University from April 2016 to December 2019. Logistic regression and the area under the receiver operating characteristic curve(AUC) were used to evaluate the influencing factors and diagnostic performance of PIVKA-Ⅱ for HCC, respectively.RESULTS Elevated PIVKA-Ⅱ levels were independently positively associated with alcohol-related liver disease, serum alkaline phosphatase(ALP), and total bilirubin(TBIL) for CLD patients and aspartate aminotransferase(AST) and tumor size for HCC patients(all P < 0.05). Serum PIVKA-Ⅱ were significantly lower in patients with viral etiology, ALP ≤ 1 × upper limit of normal(ULN), TBIL ≤ 1 × ULN, and AST ≤ 1 × ULN than in those with nonviral disease and abnormal ALP, TBIL, or AST(all P < 0.05), but the differences disappeared in patients with early-stage HCC. For patients with TBIL ≤ 1 × ULN, the AUC of PIVKA-Ⅱ was significantly higher compared to that in patients with TBIL > 1 × ULN(0.817 vs 0.669, P = 0.015), while the difference between ALP ≤ 1 × ULN and ALP > 1 × ULN was not statistically significant(0.783 vs 0.729, P = 0.398). These trends were then more prominently perceived in subgroups of patients with viral etiology and HBV alone.CONCLUSION Serum PIVKA-Ⅱ has better performance in detecting HCC at an early stage for CLD patients with normal serum TBIL.

Rare portal hypertension caused by Abernethy malformation(Type IIC):A case report

BACKGROUND Abernethy malformation is a rare congenital vascular malformation with a portosystemic shunt that may clinically manifest as cholestasis,dyspnea,or hepatic encephalopathy,among other conditions.Early diagnosis and classification are very important to further guide treatment.Typically,patients with congenital portosystemic shunts have no characteristics of portal hypertension.Herein,we report an 18-year-old female with prominent portal hypertension that manifested mainly as rupture and bleeding of esophageal varices.Imaging showed a thin main portal vein,no portal vein branches in the liver,and bleeding of the esophageal and gastric varices caused by the collateral circulation upwards from the proximal main portal vein.Patients with Abernethy malformation type I are usually treated with liver transplantation,and patients with type II are treated with shunt occlusion,surgery,or transcatheter coiling.Our patient was treated with endoscopic surgery combined with drug therapy and had no portal hypertension and good hepatic function for 24 mo of follow-up.CASE SUMMARY This case report describes our experience in the diagnosis and treatment of an 18-year-old female with Abernethy malformation type IIC and portal hypertension.This condition was initially diagnosed as cirrhosis combined with portal hypertension.The patient was ultimately diagnosed using liver histology and subsequent imaging,and the treatment was highly effective.To publish this case report,written informed consent was obtained from the patient,including the attached imaging data.CONCLUSION Abernethy malformation type IIC may develop portal hypertension,and traditional nonselective beta-blockers combined with endoscopic treatment can achieve high efficacy.

When 2D Materials Encounter Disorder

Back to the 1950s,Anderson revealed the absence of wave diffusion,i.e.,Anderson localization,in a sufficiently disordered media,marking the start of electron transport research in non-periodic lattices.[1]In a simplified theoretical model,one critical order parameter was proposed to determine the boundary of electron delocalization。

Congenital Absence of Pericardium:The Largest Systematic Review in the Field on 247 Worldwide Cases(1977-Now)

Background:Congenital absence of pericardium(CAP),also known as pericardial agenesis,represents an uncommon cardiac abnormality and mostly incidental finding.It can be subdivided into complete and partial(left or right-sided)forms.Because of its infrequency,just case reports and a few case series have been released so far.This paper represents the largest systematic review in the field.Nine features(age at diagnosis,type,gender,clinical presentation,electrocardiography,imaging(ultrasounds,CT/MRI),concomitant cardiac defects,and outcome)were analysed.Methods:The electronic database PubMed was investigated from its establishment up to July 15th,2023.Just case reports and case series were included.Animal studies,papers that were not in English,Spanish,and Italian,and those manuscripts not reporting at least seven of the nine analysed features.were ruled out.The analysed data were reported mostly in terms of percentage.Results:One hundred eighty studies were included encompassing 247 patients.More than half of reviewed CAP cases were in males(63.2%).The mean age at diagnosis was 31.8±19.3 years;a range of 32 weeks of gestation-81 years).23.5%of the patients did not report any symptoms.The most common clinical presentations were chest pain(35.2%)and dyspnoea(29.2%).The most commonly seen ECG changes were right axis deviation(28.7%)and right bundle branch block(23.9%).CAP was suspected or diagnosed by echocardiography in 20.1%of cases.The diagnosis was made by CT and/or MRI in 61.9%of cases.CAP was left-sided in 71.2%,complete in 23.1%,and right-sided in 5.7%.A concomitant congenital heart defect was found in 22.7%,especially in the form of atrial septal defect(6.5%)and patency of ductus arteriosus(2.8%).The pericardial repair was required in 12.9% of the incomplete forms of the disease.Never did the complete form require surgical correction.The outcome appeared favourable in the vast majority of cases,with just 18 deaths(7.3%).Discussion:The main limitation of this systematic review is that it is based just on case reports and case series,due to the lack of large studies on CAP.However,it represents the largest analysis in the field.Due to the rarity of CAP establishing an International Registry is recommended.

Typical Zollinger-Ellison syndrome-atypical location of gastrinoma and absence of hypergastrinemia:A case report and review of literature

BACKGROUND Zollinger–Ellison syndrome(ZES)results from hypersecretion of gastrin from pancreatic or duodenal neuroendocrine tumors,commonly referred to as gastrinomas.The high levels of gastrin lead to a typical presentation involving watery diarrhea and multiple ulcers in the duodenum.Here,we have presented the rare case of a patient with ZES and absence of hypergastrinemia as well as an atypical location of gastrinoma.CASE SUMMARY A 72-year-old woman presented with the typical clinical manifestations of ZES,including upper abdominal pain,significant watery diarrhea,and acidic liquid vomitus.Surprisingly,however,she did not have an increased level of serum gastrin.In addition,there was no evidence of gastrinoma or any other ulcerogenic tumor.Esophagogastroduodenoscopy was conducted to examine the upper digestive tract.Revised diagnoses were considered,and an individualized treatment plan was developed.The patient responded to antacid medication while experiencing intermittent,recurring bouts of ZES.18F-AlF-NOTAoctreotide positron emission tomography(18F-OC PET)/computed tomography(CT)helped locate the tumor.Postoperative pathology and immunohistochemistry results suggested that the tumor was a gastrinoma located at an unconventional site.CONCLUSION This present case study demonstrates the possibility of ZES-like manifestation in patients with absence of hypergastrinemia.18F-OC PET/CT is a relatively new imaging technique that can be applied for diagnosing even tiny gastrinomas that are atypical in terms of location.

Estimating the Monetary Value of Hours Lost to the Nigerian Public Healthcare System When Full-Time Government Employee Doctors Engage in Dual Practice

Background: Dual Practice (DP) allows full-time public sector doctors to concurrently offer the same clinical services in the private sector. The debate against this practice seems to be largely influenced by its potential to reduce the contracted hours in the public sector and shift attention to private work. Purpose: The purpose of this secondary research is to estimate the monetary value of hours lost to the Nigerian public healthcare system when full-time government employee doctors are engaged in private practice. It attempts to quantify the amount of resource outflow from the public system due to absences and lateness arising from competition for time between the public system’s contracted hours and private practice. Methods: Sensitivity analysis in Excel 2010 was used to calculate doctors’ hourly pay in the public sector using the 2015 Consolidated Medical Salary Structure for medical and dental officers in Nigeria’s federal public service. The parameters used for the calculation were the official 40-hour working week and the average monthly gross pay of doctors on different grade levels. Hypothetical scenarios of hours lost due to absences associated with DP were created. The value of different hypothetical hour losses by the percentage of doctors assumed to engage in dual practice across all doctor grade levels was then computed. Results: The estimated annual value of hours lost from dual practice to a single public tertiary care hospital was N4,851,754 or 15,855 USD (best case scenario) and N19,407,017 or 63,422 USD (worst case scenario) for the normal routine work and N1,800,133 or 5883 USD (best case scenario) and N3,600,266 or 11,766 USD (worst case scenario) for the on-call duty. Conclusion: The government may have been paying salaries for large volumes of work not rendered in the public sector. The overall financial impact of dual practice in the Nigerian public system might be negative.

An Analysis of Health Factors Affecting Employees’ Absenteeism: Influences of HDL Cholesterol and Blood Sugar Levels

Background: Workers’ health condition is an important issue. It affects not only the well-being of workers but also the firms and society as a whole through medical costs and productivity losses due to absenteeism and presenteeism. Data and Methods: Data were obtained from 1136 employees at an operational site of a large corporation. The dataset contained both medical checkups and working record information. Health factors affecting long-term absence (over three days in three months) were analyzed. Logistic regression models and the procedure for selecting proper covariates based on likelihood test statistics and the Akaike information criterion were used. Results: Among health factors, high-density lipoprotein cholesterol (HDL-C) and blood sugar levels were important in the selected model. For HDL-C, the odds ratio (OR) based on one standard deviation difference was 0.75 with a 95% confidence interval (CI) of 0.59 - 0.95. For blood sugar, the OR was 1.20 with a 95% CI of 1.01 - 1.42. Improving HDL-C and blood sugar levels would reduce long-term absence by 25% and 20%, respectively. Conclusion: Controlling HDL-C and blood sugar levels is important to reduce long-term absenteeism. These factors can be improved by modifying eating habits. Since the operational site has its own company cafeterias, which most employees use, nutritional intervention is relatively easy with little or no cost. It may be worthwhile to implement nutritional intervention, especially for patients with low HDL-C or high blood sugar levels. Limitations: The results of this study were based on one operational site of a corporation. The employees were mainly operators working inside the building. The results may be different from other types of jobs and working conditions, such as fieldwork. Analyses of different types of jobs and working conditions are necessary.

Levers Behind the Scene:The Importance of the Individual and Organizational Awareness for the Organizational Success in the Midst of Digital Transformation

In this paper,we have asked what qualities individuals and organizations need for the success in the midst of large scale system transformation.Digital transformation is an example of such large-scale system change.First,we have reviewed the empirical research on digital transformation and job redesign in order to explore qualities employees need to thrive in the digitally transformed job settings.Second,we have studied soft system regularities in order to tap into organizational-level qualities that allow for the successful large-scale system transformation.Based on these reviews,we have come up with the proposition that greater attention should be paid to the quality of the individual and collective awareness(defined as the capacity of expanded,inclusive attention).We have proposed that virtues in action and individual strengths(VIA-IS)to serve as a possible indicator of the quality of the individual awareness.Next,we have proposed that organizational presencing/absencing can serve as the possible indicator of the quality of organizational level awareness.Exploring the relationship between the individual awareness(indicated by VIA-IS)and organizational awareness(indicated by absencing/presencing)and organizational effectiveness revealed a set of compelling results:(1)The quality of personal level awareness(indicated by VIA-IS framework)varies significantly across different organizational positions,whereby middle managers hold the highest levels of individual awareness;and(2)presencing is positively associated with organizational performance,while absencing holds negative relationship.These findings reveal that quality of awareness(either at the individual and/or collective level)may be a promising line of organizational research with a decent predictive power in many organizational domains.

Diagnostic value of gamma-glutamyltransferase/aspartate aminotransferase ratio, protein induced by vitamin K absence or antagonist II, and alpha-fetoprotein in hepatitis B virus-related hepatocellular carcinoma

BACKGROUND Researchers have investigated the diagnostic value of protein induced by vitamin K absence or antagonist II (PIVKA-II) and alpha-fetoprotein (AFP) in hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC), and obtained abundant clinical diagnostic data. However, PIVKA-II and AFP have unsatisfactory specificity and sensitivity in the diagnosis of early-stage HBV-related HCC. Gamma-glutamyltransferase (γ-GT) and aspartate aminotransferase (AST) are common biomarkers for evaluating liver function, and we hypothesized that the γ-GT/AST ratio in combination with PIVKA-II and AFP would improve the diagnosis of early-stage HBV-related HCC. AIM To evaluate the diagnostic value of γ-GT/AST ratio alone or in combination with PIVKA-II and AFP in HBV-related HCC. METHODS Serum levels of γ-GT, AST, PIVKA-II, and AFP were detected and analysed in 176 patients with HBV-related HCC and in 359 patients with chronic hepatitis B. According to tumour size and serum level of HBV DNA, HBV-related HCC patients were divided into the following categories: Early-stage HCC patients, HCC patients, HBV DNA positive (HBV DNA+) HCC patients, and HBV DNA negative (HBV DNA-) HCC patients. Receiver-operating characteristic (ROC) curves were used to analyse and compare the diagnostic value of the single and combined detection of various biomarkers in different types of HBV-related HCC. RESULTS Tumour size was positively correlated with serum levels of PIVKA-II and AFP in HCC patients (r = 0.529, aP < 0.001 and r = 0.270, bP < 0.001, respectively), but there was no correlation between tumour size and the γ-GT/AST ratio (r = 0.073, P = 0.336). The areas under the receiver-operating characteristic curves (AUROCs) of the γ-GT/AST ratio in early-stage HCC patients, HBV DNA+ HCC patients and HBV DNA- HCC patients were not significantly different from that in the total HCC patients (0.754, 0.802, and 0.705 vs 0.779, respectively;P > 0.05). When PIVKA-II was combined with the γ-GT/AST ratio in the diagnosis of earlystage HCC, HCC, and HBV DNA+ HCC, the AUROCs of PIVKA-II increased, with values of 0.857 vs 0.835, 0.925 vs 0.913, and 0.958 vs 0.954, respectively. When AFP was combined with the γ-GT/AST ratio in the diagnosis of early-stage HCC, HCC, HBV DNA+ HCC, and HBV DNA- HCC, the AUROCs of AFP increased, with values of 0.757 vs 0.621, 0.837 vs 0.744, 0.868 vs 0.757, and 0.840 vs 0.828, respectively. CONCLUSION The γ-GT/AST ratio may be better than PIVKA-II and AFP in the diagnosis of early-stage HBV-related HCC, and its combination with PIVKA-II and AFP can improve the diagnostic value for HBV-related HCC.

Protein induced by vitamin K absence or antagonist-Ⅱ versus alpha-fetoprotein in the diagnosis of hepatocellular carcinoma: A systematic review with meta-analysis

Background: As a promising biomarker of hepatocellular carcinoma(HCC), protein induced by vitamin K absence or antagonist-Ⅱ(PIVKA-Ⅱ) has been studied extensively. However, its diagnostic capability varies across HCC studies. This study aimed to compare the performance of PIVKA-Ⅱ with alpha-fetoprotein(AFP) in the diagnosis of HCC. Data sources: A systematic literature search was conducted to identify the studies from MEDLINE, Embase and Cochrane Library Databases, which were published up to December 20, 2017 to compare the diagnostic capability of PIVKA-Ⅱ and AFP for HCC. The data were pooled using random effects model. Pooled sensitivity and specificity were calculated. Summary receiver operating characteristic curve(ROC) was employed to evaluate the diagnostic accuracy of each marker. Results: Thirty-one studies were included. The pooled sensitivity(95% CI) of PIVKA-Ⅱ and AFP was 0.66(0.65–0.68) and 0.66(0.65–0.67), respectively in diagnosis of HCC; and the corresponding pooled specificity(95% CI) was 0.89(0.88–0.90) and 0.84(0.83–0.85), respectively. The area under the ROC curve(AUC) of PIVKA-Ⅱ and AFP was 0.856(0.817–0.895) and 0.770(0.728–0.811), respectively. Subgroup analysis showed that PIVKA-Ⅱ was superior to AFP in terms of the AUC for both small HCC( < 3 cm) [0.863(0.825–0.901) vs 0.717(0.658–0.776)] and large HCC( ≥ 3 cm) [0.854(0.811–0.897) vs 0.729(0.682–0.776)]; for American [0.926(0.897–0.955) vs 0.698(0.594–0.662)], European [0.772(0.743–0.801) vs 0.628(0.594–0.662)], Asian [0.838(0.812–0.864) vs 0.785(0.764–0.806)] and African [0.812(0.794–0.840) vs 0.721(0.675–0.767)] HCC patients; and for HBV-related [0.909(0.866–0.951) vs 0.714(0.673–0.755)] and mixed-etiology [0.847(0.821–0.873) vs 0.794(0.772–0.816)] HCC. Conclusion: This meta-analysis indicates that PIVKA-Ⅱ is better than AFP in terms of the accuracy for diagnosing HCC, regardless of tumor size, patient ethnic group, or HCC etiology.

Vertebral Hemangioma椎体海绵状血管瘤（英文）

Key FactsDefinition: Benign vertebral body vascular tumor.Classic imaging appearance: Hypodense lesion (CT) with coarse, verticallyoriented trabeculae;hyperintense (MRI) on both T1WI and T2WI.Most common spinal axis tumor: (1) Incidental lesion identified on imaging performed for unrelated reasons. (2) Rarer presentation (clinical or radiographic) is “aggressive hemangioma”.Radiographic diagnostic criteria are lesion growth, bone destruction, vertebral collapse, absence of fat in lesion, and active vascular component.May extend epidurally and cause cord compression.

Insight into congenital absence of the portal vein:Is it rare?

Congenital absence of portal vein （CAPV） was a rare event in the past. However, the number of detected CAPV cases has increased in recent years because of advances in imaging techniques. Patients with CAPV present with portal hypertension （PH） or portosystemic encephalopathy （PSE）, but these conditions rarely occur until the patients grow up or become old. The patients usually visit doctors for the complications of venous shunts, hepatic or cardiac abnormalities detected by ultrasonography （US）, computed tomography （CT） and magnetic resonance imaging （MR1）. The etiology of this disease is not clear, but most investigators consider that it is associated with abnormal embryologic development of the portal vein. Usually, surgical intervention can relieve the symptoms and prevent occurrence of complications in CAPV patients. Moreover, its management should be stressed on a case-by-case basis, depending on the type or anatomy of the disease, as well as the symptoms and clinical conditions of the patient.

Emerging of Stochastic Dynamical Equalities and Steady State Thermodynamics from Darwinian Dynamics

The evolutionary dynamics first conceived by Darwin and Wallace, referring to as Darwinian dynamics in the present paper, has been found to be universally valid in biology. The statistical mechanics and thermodynamics, while enormous successful in physics, have been in an awkward situation of wanting a consistent dynamical understanding. Here we present from a formal point of view an exploration of the connection between thermodynamics and Darwinian dynamics and a few related topics. We first show that the stochasticity in Darwinian dynamics implies the existence temperature, hence the canonical distribution of Boltzmann-Gibbs type. In term of relative entropy the Second Law of thermodynamics is dynamically demonstrated without detailed balance condition, and is valid regardless of size of the system. In particular, the dynamical component responsible for breaking detailed balance condition does not contribute to the change of the relative entropy. Two types of stochastic dynamical equalities of current interest are explicitly discussed in the present approach： One is based on Feynman-Kac formula and another is a generalization of Einstein relation. Both are directly accessible to experimental tests. Our demonstration indicates that Darwinian dynamics represents logically a simple and straightforward starting point for statistical mechanics and thermodynamics and is complementary to and consistent with conservative dynamics that dominates the physical sciences. Present exploration suggests the existence of a unified stochastic dynamical framework both near and far from equilibrium.

Evaluation of the azoospermic male

When presented with an azoospermic patient, a thorough history and careful, considered physical examination often leads to a definite or presumptive diagnosis. An algorithmic, logical thought process is important to have in mind when embarking on the evaluation. Adjunctive laboratory tests, such as hormonal assays or genetic studies, are often complementary and/or additive and allow a very precise determination to be made as to the etiologies, either genetic or acquired. It is only with this information that a therapeutic plan can be made for the patient. As will be discussed, a targeted approach to testing is far more satisfying and cost-effective than a blind, shotgun approach.

The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens

Congenital bilateral absence of the vas deferens （CBAVD） is a frequent cause of obstructive azoospermia, and mutations of the cystic fibrosis transmembrane conductance regulator （CFTR） gene have also been frequently identified in patients with CBAVD. However, the distribution of the CFTR polymorphisms M470V, poly-T, TG-repeats and F508del mutation in the Chinese CBAVD population with presumed low cystic fibrosis （CF） frequency remains to be evaluated. Samples obtained from 109 Chinese infertile males with CBAVD and 104 normal controls were analyzed for the presence of CFTR （TG）m（T）n, M470V and F508del by PCR amplification followed by direct sequencing. Our study showed that the F5OSdel mutation was not found in our patients. The 5T mutation was present with high frequency in Chinese CBAVD patients and IVS8-5T linked to either 12 or 13 TG repeats was highly prevalent among CBAVD patients （97.22% of 72 cases and 96.91% of 97 alleles with IVS8-5T）. Moreover, a statistically significant relationship between TG 12-5T-V470 haplotype and CBAVD was detected. This study indicated that the CFTR polymorphisms poly-T, TG-repeats and M470V might affect the process of CBAVD in the Chinese population.

The role of genomic structural variation in the genetic improvement of polyploid crops

Many of our major crop species are polyploids, containing more than one genome or set of chromosomes. Polyploid crops present unique challenges, including difficulties in genome assembly, in discriminating between multiple gene and sequence copies, and in genetic mapping, hindering use of genomic data for genetics and breeding. Polyploid genomes may also be more prone to containing structural variation, such as loss of gene copies or sequences(presence–absence variation) and the presence of genes or sequences in multiple copies(copynumber variation). Although the two main types of genomic structural variation commonly identified are presence–absence variation and copy-number variation, we propose that homeologous exchanges constitute a third major form of genomic structural variation in polyploids. Homeologous exchanges involve the replacement of one genomic segment by a similar copy from another genome or ancestrally duplicated region, and are known to be extremely common in polyploids. Detecting all kinds of genomic structural variation is challenging, but recent advances such as optical mapping and long-read sequencing offer potential strategies to help identify structural variants even in complex polyploid genomes. All three major types of genomic structural variation(presence–absence, copy-number, and homeologous exchange) are now known to influence phenotypes in crop plants, with examples of flowering time, frost tolerance, and adaptive and agronomic traits. In this review,we summarize the challenges of genome analysis in polyploid crops, describe the various types of genomic structural variation and the genomics technologies and data that can be used to detect them, and collate information produced to date related to the impact of genomic structural variation on crop phenotypes. We highlight the importance of genomic structural variation for the future genetic improvement of polyploid crops.