Biliary disease in the setting of non-cirrhotic portal vein thrombosis(and similarly in portal vein cavernous transformation) can become a serious problem during the evolution of disease.This is mostly due to portal b...Biliary disease in the setting of non-cirrhotic portal vein thrombosis(and similarly in portal vein cavernous transformation) can become a serious problem during the evolution of disease.This is mostly due to portal biliary ductopathy.There are several mechanisms that play a role in the development of portal biliary ductopathy,such as induction of fibrosis in the biliary tract(due to direct action of dilated peribiliary collaterals and/or recurrent cholangitis),loss of biliary motility,chronic cholestasis(due to fibrosis or choledocholithiasis) and increased formation of cholelithiasis(due to various factors).The management of cholelithiasis in cases with portal vein cavernous transformation merits special attention.Because of a heterogeneous clinical presentation and concomitant pathophysiological changes that take place in biliary anatomy,diagnosis and therapy can become very complicated.Due to increased incidence and complications of cholelithiasis,standard treatment modalities like sphincterotomy or balloon sweeping of bile ducts can cause serious problems.Cholangitis,biliary strictures and hemobilia are the most common complications that occur during management of these patients.In this review,we specifically discuss important issues about bile stones related to bile duct obstruction in non-cirrhotic portal vein thrombosis and present evidence in the current literature.展开更多
This paper presents an acoustic design sensitivity(ADS)analysis on sound radiation of structures by using the boundary element method(BEM).We calculated the velocity distribution of the thin plate by analytical method...This paper presents an acoustic design sensitivity(ADS)analysis on sound radiation of structures by using the boundary element method(BEM).We calculated the velocity distribution of the thin plate by analytical method and the surface sound pressure by Rayleigh integral,and expressed the sound radiation power of the structure in a positive definite quadratic form of the Hermitian with an impedance matrix.The ADS analysis of the plate was thus translated into the analysis of structure dynamic sensitivity and ...展开更多
Clinical, electrocardiographic and echocardiographic findings in 64 patients with dilated cardiomyopathy were retrospectively studied. Compared with 51 patients without complete left bundle branch block (CLBBB), 13 pa...Clinical, electrocardiographic and echocardiographic findings in 64 patients with dilated cardiomyopathy were retrospectively studied. Compared with 51 patients without complete left bundle branch block (CLBBB), 13 patients with CLBBB had higher New York Heart Association (NYHA) functional class (P<0. 05), increased left ventricular end-diastolic and end-systolic diameters (P<0. 002) and myocardial mass (P<0. 02). severe mitral regurgitation (P<0. 01) and higher mortality rate (P<0. 04). Multivariate stepwise regression analysis revealed that the presence of CLBBB was an independent prognostic factor for patients with dilated cardiomyopathy.展开更多
The solutions widely used at present for calculating complicated mine ventilation networks are ones in which resistance of the branches and characteristic parameters of the fans are taken as basic input data. But it i...The solutions widely used at present for calculating complicated mine ventilation networks are ones in which resistance of the branches and characteristic parameters of the fans are taken as basic input data. But it is time and energy consuming to obtain the branch resistance values. A new solution is developed in this paper in which the branch resistance values are obtained through measuring and evaluating the airflow of the whole ventilation network. Theoretical analysis is made of the establishment of a linear equation series with branch resistance as unknown numbers, an equation series for which one, and only one, result of solutions exists. This solution is programmed in C language and passed on a personal computer. The programmed solution programmed proves of practical use, as demonstrated by specific examples. Being different from other solutions, the method takes the branch airflow and fan working points as basic input data, and the present solution is of greater advantage for calculating ventilation networks of mines in operation.展开更多
Based on the fact that it is diffi cult to implement optimum inversion using 2D and 3D forward modeling with magnetic-source transient electromagnetics(TEM),this paper explores a novel approach to the implementation o...Based on the fact that it is diffi cult to implement optimum inversion using 2D and 3D forward modeling with magnetic-source transient electromagnetics(TEM),this paper explores a novel approach to the implementation of 2D magnetic-source TEM inversion.In particular,we converted magnetic-source TEM data into magnetotelluric(MT)data and then used a 2D MT inversion method to implement a 2D magnetic-source TEM inversion interpretation.First,we studied the similarity between magnetic-source TEM waves and MT waves and between magnetic-source TEM all-time apparent resistivity and MT Cagniard apparent resistivity.Then,we selected an optimal time-frequency transformation coeffi cient to implement rapid time-frequency transformation of all-time TEM apparent resistivity to MT Cagniard apparent resistivity.Afterward,we conducted 1D pseudo-MT inversions of magnetic-source 1D TEM theoretical models.The 1D inversion results demonstrated that the diff erence between the inversion parameters and model parameters was small,while the MT 1D inversion method could be used to conduct magnetic 1D TEM inversion within a certain margin of error.We further conducted 2D pseudo-MT inversions of 3D magnetic-source TEM theoretical models,and the 2D inversion results indicated that selecting a joint 2D pseudo-MT transverse-electric(TE)and transverse-magnetic(TM)inversion method based on measuring the line above a 3D anomalous body can help to accurately implement a 2D inversion interpretation of the 3D TEM response.展开更多
A newly developed heuristic global optimization algorithm, called gravitational search algorithm (GSA), was introduced and applied for simultaneously coordinated designing of power system stabilizer (PSS) and thyr...A newly developed heuristic global optimization algorithm, called gravitational search algorithm (GSA), was introduced and applied for simultaneously coordinated designing of power system stabilizer (PSS) and thyristor controlled series capacitor (TCSC) as a damping controller in the multi-machine power system. The coordinated design problem of PSS and TCSC controllers over a wide range of loading conditions is formulated as a multi-objective optimization problem which is the aggregation of two objectives related to damping ratio and damping factor. By minimizing the objective function with oscillation, the characteristics between areas are contained and hence the interactions among the PSS and TCSC controller under transient conditions are modified. For evaluation of effectiveness and robustness of proposed controllers, the performance was tested on a weakly connected power system subjected to different disturbances, loading conditions and system parameter variations. The cigenvalues analysis and nonlinear simulation results demonstrate the high performance of proposed controllers which is able to provide efficient damping of low frequency oscillations.展开更多
AIM: To investigate and predict enteral nutrition problems after percutaneous endoscopic gastrostomy (PEG). METHODS: We retrospectively analyzed data for 252 out of 285 patients who underwent PEG at our hospital f...AIM: To investigate and predict enteral nutrition problems after percutaneous endoscopic gastrostomy (PEG). METHODS: We retrospectively analyzed data for 252 out of 285 patients who underwent PEG at our hospital from 1999 to 2008 after PEG were defined as: Enteral nutrition problems (1) patients who required ≥ 1 mo after surgery to switch to complete enteral nutrition, or who required additional parenteral alimentation continuously; or (2) patients who abandoned switching to enteral nutrition using the gastrostoma and employed other nutritional methods. We attempted to identify the predictors of problem cases by using a logistic regression analysis that examined the patients' backgrounds and the specific causes that led to their problems. RESULTS: Mean age of the patients was 75 years, and in general, their body weight was low and their overall condition was markedly poor. Blood testing revealed that patients tended to be anemic and malnourished. A total of 44 patients (17.5%) were diagnosed as having enteral nutrition problems after PEG. Major causes of the problems included pneumonia, acute enterocolitis (often Clostridium difficile-related), paralytic ileus and biliary tract infection. A multivariate analysis identified the following independent predictors for problem cases: (1) enteral nutrition before gastrectomy (a risk reduction factor); (2) presence of esophageal hiatal hernia; (3) past history of paralytic ileus; and (4) presence of chronic renal dysfunction. CONCLUSION: Enteral nutrition problems after PEG occurred at a comparatively high rate. Patient background analysis elucidated four predictive factors for the problem cases.展开更多
OBJECTIVE: To evaluate the effect of a system of velopharyngeal incompetence (VPI) management after the application of obturator. METHODS: Using nasopharyngofiberoscope (NPF) and a computer analysis system, we quantit...OBJECTIVE: To evaluate the effect of a system of velopharyngeal incompetence (VPI) management after the application of obturator. METHODS: Using nasopharyngofiberoscope (NPF) and a computer analysis system, we quantitatively analyzed the improved state of velopharyngeal incompetence in 100 patients with unilateral and/or bilateral cleft palate. RESULTS: The velopharyngeal closure (VPC) can be greatly improved by using a temporary oral prosthesis (obturator) and speech training. An objective quantitative standard was established to evaluate the change of velopharyngeal closure of cleft palate patients after surgery and conservative treatment. CONCLUSIONS: The method used is more succinct, accurate and practical than previous methods. In order to reflect the state of velopharyngeal incompetence, the concept of improvement rate of velopharyngeal incompetence (IRVPI) is put forward.展开更多
The elite rice cultivar Yuejingsimiao 2 (YJ2) is characterized by a high level of grain quality and yield, and resistance against Magnaporthe oryzae. YJ2 showed 100% resistance to four fungal populations collected f...The elite rice cultivar Yuejingsimiao 2 (YJ2) is characterized by a high level of grain quality and yield, and resistance against Magnaporthe oryzae. YJ2 showed 100% resistance to four fungal populations collected from Guangdong, Sichuan, Liaoning, and Heilongjiang Provinces, which is a higher frequency than that shown by the well-known resistance (R) gene donor culti- vats such as Sanhuangzhan 2 and 28zhan. Segregation analysis for resistance with F2 and F4 populations indicated the re- sistance of YJ2 was controlled by multiple genes that are dominant or recessive. The putative R genes of YJ2 were roughly tagged by SSR markers, located on chromosomes 2, 6, 8, and 12, in a hulked-segregant analysis using genome-wide selected SSR markers with F4 lines that segregated into 3 resistant (R): 1 susceptible (S) or 1R:3S. The recessive R gene on chromosome 8 was further mapped to an interval ~1.9 cM/152 kb in length by linkage analysis with genomic position-ready markers in the mapping population derived from an F4 line that segregated into 1R:3S. Given that no major R gene was mapped to this inter- val, the novel R gene was designated as pi55(t). Out of 26 candidate genes predicted in the region based on the reference genomic sequence of the cultivar Nipponbare, two genes that encode a leucine-rich repeat-containing protein and heavy-metalassociated domain-containing protein, respectively, were suggested as the most likely candidates for pi55(t).展开更多
The rise of personalized flexible electronics has promoted the rapid development of flexible supercapacitors due to their long service life,fast charging-discharging rates and safe operation.Different from the traditi...The rise of personalized flexible electronics has promoted the rapid development of flexible supercapacitors due to their long service life,fast charging-discharging rates and safe operation.Different from the traditional flexible supercapacitors,the all-in-one integrated flexible supercapacitors are more resistant to deformation and lower interface resistance,which have a broader application prospect in the field of flexible electronics.This review briefly summarizes the preparation methods and electrochemical properties of some typical all-in-one supercapacitors,represented by planar and fibrous structures in recent years.Firstly,the basic understanding of traditional flexible supercapacitors and all-in-one integrated flexible supercapacitors,and the key parameters of the performance of flexible supercapacitors are introduced.Subsequently,the hydrogel matrix all-in-one supercapacitors with different functional characteristics(stretchable,self-healing and compressible)and the nonhydrogel matrix(separator,flexible membrane)all-in-one supercapacitors are discussed.Furthermore,the challenges and future development of flexible supercapacitors are considered.展开更多
We study electrically forced vibrations of a crystal plate of AT-cut quartz carrying a thin mass layer operating as a quartz crystal microbalance for mass sensing.The mass layer is imperfectly bonded to the crystal pl...We study electrically forced vibrations of a crystal plate of AT-cut quartz carrying a thin mass layer operating as a quartz crystal microbalance for mass sensing.The mass layer is imperfectly bonded to the crystal plate with their interface described by the so-called interface-slip model which allows a discontinuity of the tangential interface displacement.Mindlin’s equations for piezoelectric plates are used.An analytical solution is obtained.The electrical impedance is calculated.The effects of an elastic interface and a viscoelastic interface are examined.展开更多
Meiosis is pivotal for sexual reproduction and fertility. Meiotic programmed DNA double-strand breaks(DSBs) initiate homologous recombination, ensuring faithful chromosome segregation and generation of gametes. Howeve...Meiosis is pivotal for sexual reproduction and fertility. Meiotic programmed DNA double-strand breaks(DSBs) initiate homologous recombination, ensuring faithful chromosome segregation and generation of gametes. However, few studies have focused on meiotic DSB formation in human reproduction.Here, we report four infertile siblings born to a consanguineous marriage, with three brothers suffering from non-obstructive azoospermia and one sister suffering from unexplained infertility with normal menstrual cycles and normal ovary sizes with follicular activity. An autosomal recessive mutation in TOP6BL was found co-segregating with infertility in this family. Investigation of one male patient revealed failure in programmed meiotic DSB formation and meiotic arrest prior to pachytene stage of prophase I.Mouse models carrying similar mutations to that in patients recapitulated the spermatogenic abnormalities of the patient. Pathogenicity of the mutation in the female patient was supported by observations in mice that meiotic programmed DSBs failed to form in mutant oocytes and oocyte maturation failure due to absence of meiotic recombination. Our study thus illustrates the phenotypical characteristics and the genotype-phenotype correlations of meiotic DSB formation failure in humans.展开更多
文摘Biliary disease in the setting of non-cirrhotic portal vein thrombosis(and similarly in portal vein cavernous transformation) can become a serious problem during the evolution of disease.This is mostly due to portal biliary ductopathy.There are several mechanisms that play a role in the development of portal biliary ductopathy,such as induction of fibrosis in the biliary tract(due to direct action of dilated peribiliary collaterals and/or recurrent cholangitis),loss of biliary motility,chronic cholestasis(due to fibrosis or choledocholithiasis) and increased formation of cholelithiasis(due to various factors).The management of cholelithiasis in cases with portal vein cavernous transformation merits special attention.Because of a heterogeneous clinical presentation and concomitant pathophysiological changes that take place in biliary anatomy,diagnosis and therapy can become very complicated.Due to increased incidence and complications of cholelithiasis,standard treatment modalities like sphincterotomy or balloon sweeping of bile ducts can cause serious problems.Cholangitis,biliary strictures and hemobilia are the most common complications that occur during management of these patients.In this review,we specifically discuss important issues about bile stones related to bile duct obstruction in non-cirrhotic portal vein thrombosis and present evidence in the current literature.
基金Funded by Doctoral Program Foundation of Institutions of Higher Education of China(20070487403)Natural Science Foundation of Hubei Province of China(2006ABA71)
文摘This paper presents an acoustic design sensitivity(ADS)analysis on sound radiation of structures by using the boundary element method(BEM).We calculated the velocity distribution of the thin plate by analytical method and the surface sound pressure by Rayleigh integral,and expressed the sound radiation power of the structure in a positive definite quadratic form of the Hermitian with an impedance matrix.The ADS analysis of the plate was thus translated into the analysis of structure dynamic sensitivity and ...
文摘Clinical, electrocardiographic and echocardiographic findings in 64 patients with dilated cardiomyopathy were retrospectively studied. Compared with 51 patients without complete left bundle branch block (CLBBB), 13 patients with CLBBB had higher New York Heart Association (NYHA) functional class (P<0. 05), increased left ventricular end-diastolic and end-systolic diameters (P<0. 002) and myocardial mass (P<0. 02). severe mitral regurgitation (P<0. 01) and higher mortality rate (P<0. 04). Multivariate stepwise regression analysis revealed that the presence of CLBBB was an independent prognostic factor for patients with dilated cardiomyopathy.
文摘The solutions widely used at present for calculating complicated mine ventilation networks are ones in which resistance of the branches and characteristic parameters of the fans are taken as basic input data. But it is time and energy consuming to obtain the branch resistance values. A new solution is developed in this paper in which the branch resistance values are obtained through measuring and evaluating the airflow of the whole ventilation network. Theoretical analysis is made of the establishment of a linear equation series with branch resistance as unknown numbers, an equation series for which one, and only one, result of solutions exists. This solution is programmed in C language and passed on a personal computer. The programmed solution programmed proves of practical use, as demonstrated by specific examples. Being different from other solutions, the method takes the branch airflow and fan working points as basic input data, and the present solution is of greater advantage for calculating ventilation networks of mines in operation.
基金this research project is funded by a major science and technology project of Gansu province,“research on the complete set technology for highway construction in collapsible loess region of Gansu province”(No.1302GKDA009).
文摘Based on the fact that it is diffi cult to implement optimum inversion using 2D and 3D forward modeling with magnetic-source transient electromagnetics(TEM),this paper explores a novel approach to the implementation of 2D magnetic-source TEM inversion.In particular,we converted magnetic-source TEM data into magnetotelluric(MT)data and then used a 2D MT inversion method to implement a 2D magnetic-source TEM inversion interpretation.First,we studied the similarity between magnetic-source TEM waves and MT waves and between magnetic-source TEM all-time apparent resistivity and MT Cagniard apparent resistivity.Then,we selected an optimal time-frequency transformation coeffi cient to implement rapid time-frequency transformation of all-time TEM apparent resistivity to MT Cagniard apparent resistivity.Afterward,we conducted 1D pseudo-MT inversions of magnetic-source 1D TEM theoretical models.The 1D inversion results demonstrated that the diff erence between the inversion parameters and model parameters was small,while the MT 1D inversion method could be used to conduct magnetic 1D TEM inversion within a certain margin of error.We further conducted 2D pseudo-MT inversions of 3D magnetic-source TEM theoretical models,and the 2D inversion results indicated that selecting a joint 2D pseudo-MT transverse-electric(TE)and transverse-magnetic(TM)inversion method based on measuring the line above a 3D anomalous body can help to accurately implement a 2D inversion interpretation of the 3D TEM response.
基金Project(UKM-DLP-2011-059) supported by the National University of Malaysia
文摘A newly developed heuristic global optimization algorithm, called gravitational search algorithm (GSA), was introduced and applied for simultaneously coordinated designing of power system stabilizer (PSS) and thyristor controlled series capacitor (TCSC) as a damping controller in the multi-machine power system. The coordinated design problem of PSS and TCSC controllers over a wide range of loading conditions is formulated as a multi-objective optimization problem which is the aggregation of two objectives related to damping ratio and damping factor. By minimizing the objective function with oscillation, the characteristics between areas are contained and hence the interactions among the PSS and TCSC controller under transient conditions are modified. For evaluation of effectiveness and robustness of proposed controllers, the performance was tested on a weakly connected power system subjected to different disturbances, loading conditions and system parameter variations. The cigenvalues analysis and nonlinear simulation results demonstrate the high performance of proposed controllers which is able to provide efficient damping of low frequency oscillations.
文摘AIM: To investigate and predict enteral nutrition problems after percutaneous endoscopic gastrostomy (PEG). METHODS: We retrospectively analyzed data for 252 out of 285 patients who underwent PEG at our hospital from 1999 to 2008 after PEG were defined as: Enteral nutrition problems (1) patients who required ≥ 1 mo after surgery to switch to complete enteral nutrition, or who required additional parenteral alimentation continuously; or (2) patients who abandoned switching to enteral nutrition using the gastrostoma and employed other nutritional methods. We attempted to identify the predictors of problem cases by using a logistic regression analysis that examined the patients' backgrounds and the specific causes that led to their problems. RESULTS: Mean age of the patients was 75 years, and in general, their body weight was low and their overall condition was markedly poor. Blood testing revealed that patients tended to be anemic and malnourished. A total of 44 patients (17.5%) were diagnosed as having enteral nutrition problems after PEG. Major causes of the problems included pneumonia, acute enterocolitis (often Clostridium difficile-related), paralytic ileus and biliary tract infection. A multivariate analysis identified the following independent predictors for problem cases: (1) enteral nutrition before gastrectomy (a risk reduction factor); (2) presence of esophageal hiatal hernia; (3) past history of paralytic ileus; and (4) presence of chronic renal dysfunction. CONCLUSION: Enteral nutrition problems after PEG occurred at a comparatively high rate. Patient background analysis elucidated four predictive factors for the problem cases.
文摘OBJECTIVE: To evaluate the effect of a system of velopharyngeal incompetence (VPI) management after the application of obturator. METHODS: Using nasopharyngofiberoscope (NPF) and a computer analysis system, we quantitatively analyzed the improved state of velopharyngeal incompetence in 100 patients with unilateral and/or bilateral cleft palate. RESULTS: The velopharyngeal closure (VPC) can be greatly improved by using a temporary oral prosthesis (obturator) and speech training. An objective quantitative standard was established to evaluate the change of velopharyngeal closure of cleft palate patients after surgery and conservative treatment. CONCLUSIONS: The method used is more succinct, accurate and practical than previous methods. In order to reflect the state of velopharyngeal incompetence, the concept of improvement rate of velopharyngeal incompetence (IRVPI) is put forward.
基金supported by the National Natural Science Foundation of China (Grant No. U1131003)the National Transgenic Research Projects(Grant Nos. 2009ZX08009-023 and 2011ZX08001-002)+1 种基金the Guangdong Provincial Natural Science Foundation (Grant No. 10151064001000008)the President Science Foundation of Guangdong Academy of Agricultural Sciences (Grant No. 201101)
文摘The elite rice cultivar Yuejingsimiao 2 (YJ2) is characterized by a high level of grain quality and yield, and resistance against Magnaporthe oryzae. YJ2 showed 100% resistance to four fungal populations collected from Guangdong, Sichuan, Liaoning, and Heilongjiang Provinces, which is a higher frequency than that shown by the well-known resistance (R) gene donor culti- vats such as Sanhuangzhan 2 and 28zhan. Segregation analysis for resistance with F2 and F4 populations indicated the re- sistance of YJ2 was controlled by multiple genes that are dominant or recessive. The putative R genes of YJ2 were roughly tagged by SSR markers, located on chromosomes 2, 6, 8, and 12, in a hulked-segregant analysis using genome-wide selected SSR markers with F4 lines that segregated into 3 resistant (R): 1 susceptible (S) or 1R:3S. The recessive R gene on chromosome 8 was further mapped to an interval ~1.9 cM/152 kb in length by linkage analysis with genomic position-ready markers in the mapping population derived from an F4 line that segregated into 1R:3S. Given that no major R gene was mapped to this inter- val, the novel R gene was designated as pi55(t). Out of 26 candidate genes predicted in the region based on the reference genomic sequence of the cultivar Nipponbare, two genes that encode a leucine-rich repeat-containing protein and heavy-metalassociated domain-containing protein, respectively, were suggested as the most likely candidates for pi55(t).
基金supported by the National Key Research and Development Program of China(2017YFB0406301)the State Key Laboratory of Electrical Insulation and Power Equipment(EIPE19210)+1 种基金the 111 Project of China(B14040)the Fundamental Research Funds for the Central University。
文摘The rise of personalized flexible electronics has promoted the rapid development of flexible supercapacitors due to their long service life,fast charging-discharging rates and safe operation.Different from the traditional flexible supercapacitors,the all-in-one integrated flexible supercapacitors are more resistant to deformation and lower interface resistance,which have a broader application prospect in the field of flexible electronics.This review briefly summarizes the preparation methods and electrochemical properties of some typical all-in-one supercapacitors,represented by planar and fibrous structures in recent years.Firstly,the basic understanding of traditional flexible supercapacitors and all-in-one integrated flexible supercapacitors,and the key parameters of the performance of flexible supercapacitors are introduced.Subsequently,the hydrogel matrix all-in-one supercapacitors with different functional characteristics(stretchable,self-healing and compressible)and the nonhydrogel matrix(separator,flexible membrane)all-in-one supercapacitors are discussed.Furthermore,the challenges and future development of flexible supercapacitors are considered.
基金supported by the National Natural Science Foundation of China (Grant Nos. 10932004, 11072116 and 10772087)the Doctoral Program Fund of Ministry of Education of China (Grant No. 20093305110003/JW)+1 种基金the Zhejiang Provincial Science Fund for Distinguished Young Scholars (Grant No. LR12A02001)the US Army Research laboratory/US Army Research Office (Grant No. W911NF-10-1-0293)
文摘We study electrically forced vibrations of a crystal plate of AT-cut quartz carrying a thin mass layer operating as a quartz crystal microbalance for mass sensing.The mass layer is imperfectly bonded to the crystal plate with their interface described by the so-called interface-slip model which allows a discontinuity of the tangential interface displacement.Mindlin’s equations for piezoelectric plates are used.An analytical solution is obtained.The electrical impedance is calculated.The effects of an elastic interface and a viscoelastic interface are examined.
基金supported by the National Key Research and Developmental Program of China (2018YFC1003700, 2016YFC1000600, 2018YFC1003400 and 2018YFC1004700)the Strategic Priority Research Program of the Chinese Academy of Sciences (XDB19000000)the National Natural Science Foundation of China (31890780, 31630050, 31871514 and 31771668)。
文摘Meiosis is pivotal for sexual reproduction and fertility. Meiotic programmed DNA double-strand breaks(DSBs) initiate homologous recombination, ensuring faithful chromosome segregation and generation of gametes. However, few studies have focused on meiotic DSB formation in human reproduction.Here, we report four infertile siblings born to a consanguineous marriage, with three brothers suffering from non-obstructive azoospermia and one sister suffering from unexplained infertility with normal menstrual cycles and normal ovary sizes with follicular activity. An autosomal recessive mutation in TOP6BL was found co-segregating with infertility in this family. Investigation of one male patient revealed failure in programmed meiotic DSB formation and meiotic arrest prior to pachytene stage of prophase I.Mouse models carrying similar mutations to that in patients recapitulated the spermatogenic abnormalities of the patient. Pathogenicity of the mutation in the female patient was supported by observations in mice that meiotic programmed DSBs failed to form in mutant oocytes and oocyte maturation failure due to absence of meiotic recombination. Our study thus illustrates the phenotypical characteristics and the genotype-phenotype correlations of meiotic DSB formation failure in humans.