Non-obstructive azoospermia is a common condition associated with significant health risks,including increased mortality,cancer,and chronic diseases such as metabolic and cardiovascular disorders.This review aims to h...Non-obstructive azoospermia is a common condition associated with significant health risks,including increased mortality,cancer,and chronic diseases such as metabolic and cardiovascular disorders.This review aims to highlight the potential health challenges faced by men with this condition compared to fertile counterparts.Through a comprehensive bibliographic search on PubMed,using the following algorithm:(“infertility,male”[MeSH Terms]OR“azoospermia”[MeSH Terms])AND(“mortality”[MeSH Terms]OR“neoplasms”[MeSH Terms]OR“chronic disease”[MeSH Terms]OR“diabetes mellitus”[MeSH Terms]OR“heart diseases”[MeSH Terms]),we analyzed existing literature to explore the associations between infertility,specifically azoospermia,and adverse health outcomes.Findings indicate that infertile men are at a higher risk of death,various cancers(particularly testicular cancer),metabolic syndrome,diabetes,hypogonadism,and cardiovascular disease.Although research specifically addressing azoospermia is limited,available studies support the notion that men with this condition may experience heightened health vulnerabilities.Given these risks,it is imperative for healthcare professionals,especially urologists,to conduct thorough health assessments for men diagnosed with azoospermia.Informing patients of these potential health issues and integrating comprehensive evaluations into their care can facilitate early detection and intervention for life-threatening conditions.Ultimately,men with azoospermia should receive ongoing monitoring to address their specific health concerns,thus improving their long-term health outcomes.展开更多
Lymphomas represent one of the most common malignant diseases in young men and an important issue is how treatments will affect their reproductive health.It has been hypothesized that chemotherapies,similarly to envir...Lymphomas represent one of the most common malignant diseases in young men and an important issue is how treatments will affect their reproductive health.It has been hypothesized that chemotherapies,similarly to environmental chemicals,may alter the spermatogenic epigenome.Here,we report the genomic and epigenomic profiling of the sperm DNA from a 31-year-old Hodgkin lymphoma patient who faced recurrent spontaneous miscarriages in his couple 11-26 months after receiving chemotherapy with adriamycin,bleomycin,vinblastine,and dacarbazine(ABVD).In order to capture the potential deleterious impact of the ABVD treatment on mutational and methylation changes,we compared sperm DNA before and 26 months after chemotherapy with whole-genome sequencing(WGS)and reduced representation bisulfite sequencing(RRBS).The WGS analysis identified 403 variants following ABVD treatment,including 28 linked to genes crucial for embryogenesis.However,none were found in coding regions,indicating no impact of chemotherapy on protein function.The RRBS analysis identified 99high-quality differentially methylated regions(hqDMRs)for which methylation status changed upon chemotherapy.Those hqDRMs were associated with 87 differentially methylated genes,among which 14 are known to be important or expressed during embryo development.While no variants were detected in coding regions,promoter regions of several genes potentially important for embryo development contained variants or displayed an altered methylated status.These might in turn modify the corresponding gene expression and thus affect their function during key stages of embryogenesis,leading to potential developmental disorders or miscarriages.展开更多
Under consideration that the profiles of bands at close wavelengths are quite similar and the curvelets are good at capturing profiles, a junk band recovery algorithm for hyperspectral data based on curvelet transform...Under consideration that the profiles of bands at close wavelengths are quite similar and the curvelets are good at capturing profiles, a junk band recovery algorithm for hyperspectral data based on curvelet transform is proposed. Both the noisy bands and the noise-free bands are transformed via curvelet band by band. The high frequency coefficients in junk bands are replaced with linear interpolation of the high frequency coefficients in noise-flee bands, and the low frequency coefficients remain the same to keep the main spectral characteristics from being distorted. Jutak bands then are recovered after the inverse curvelet transform. The performance of this method is tested on the hyperspectral data cube obtained by airborne visible/infrared imaging spectrometer （AVIRIS）. The experimental results show that the proposed method is superior to the traditional denoising method BayesShrink and the art-of-state Curvelet Shrinkage in both roots of mean square error （RMSE） and peak-signal-to-noise ratio （PSNR） of recovered bands.展开更多
Autism spectrum disorder(ASD)affects 1-2%of all children and poses a great social and economic challenge for the globe.As a highly heterogeneous neurodevelopmental disorder,the development of its treatment is extremel...Autism spectrum disorder(ASD)affects 1-2%of all children and poses a great social and economic challenge for the globe.As a highly heterogeneous neurodevelopmental disorder,the development of its treatment is extremely challenging.Multiple pathways have been linked to the pathogenesis of ASD,including signaling involved in synaptic function,oxytocinergic activities,immune homeostasis,chromatin modifications,and mitochondrial functions.Here,we identify secretagogin(SCGN),a regulator of synaptic transmission,as a new risk gene for ASD.Two heterozygous loss-of-function mutations in SCGN are presented in ASD probands.Deletion of Scgn in zebrafish or mice leads to autism-like behaviors and impairs brain development.Mechanistically,Scgn deficiency disrupts the oxytocin signaling and abnormally activates inflammation in both animal models.Both ASD probands carrying Scgn mutations also show reduced oxytocin levels.Importantly,we demonstrate that the administration of oxytocin and anti-inflammatory drugs can attenuate ASD-associated defects caused by SCGN deficiency.Altogether,we identify a convergence between a potential autism genetic risk factor SCGN,and the pathological deregulation in oxytocinergic signaling and immune responses,providing potential treatment for ASD patients suffering from SCGN deficiency.Our study also indicates that it is critical to identify and stratify ASD patient populations based on their disease mechanisms,which could greatly enhance therapeutic success.展开更多
文摘Non-obstructive azoospermia is a common condition associated with significant health risks,including increased mortality,cancer,and chronic diseases such as metabolic and cardiovascular disorders.This review aims to highlight the potential health challenges faced by men with this condition compared to fertile counterparts.Through a comprehensive bibliographic search on PubMed,using the following algorithm:(“infertility,male”[MeSH Terms]OR“azoospermia”[MeSH Terms])AND(“mortality”[MeSH Terms]OR“neoplasms”[MeSH Terms]OR“chronic disease”[MeSH Terms]OR“diabetes mellitus”[MeSH Terms]OR“heart diseases”[MeSH Terms]),we analyzed existing literature to explore the associations between infertility,specifically azoospermia,and adverse health outcomes.Findings indicate that infertile men are at a higher risk of death,various cancers(particularly testicular cancer),metabolic syndrome,diabetes,hypogonadism,and cardiovascular disease.Although research specifically addressing azoospermia is limited,available studies support the notion that men with this condition may experience heightened health vulnerabilities.Given these risks,it is imperative for healthcare professionals,especially urologists,to conduct thorough health assessments for men diagnosed with azoospermia.Informing patients of these potential health issues and integrating comprehensive evaluations into their care can facilitate early detection and intervention for life-threatening conditions.Ultimately,men with azoospermia should receive ongoing monitoring to address their specific health concerns,thus improving their long-term health outcomes.
文摘Lymphomas represent one of the most common malignant diseases in young men and an important issue is how treatments will affect their reproductive health.It has been hypothesized that chemotherapies,similarly to environmental chemicals,may alter the spermatogenic epigenome.Here,we report the genomic and epigenomic profiling of the sperm DNA from a 31-year-old Hodgkin lymphoma patient who faced recurrent spontaneous miscarriages in his couple 11-26 months after receiving chemotherapy with adriamycin,bleomycin,vinblastine,and dacarbazine(ABVD).In order to capture the potential deleterious impact of the ABVD treatment on mutational and methylation changes,we compared sperm DNA before and 26 months after chemotherapy with whole-genome sequencing(WGS)and reduced representation bisulfite sequencing(RRBS).The WGS analysis identified 403 variants following ABVD treatment,including 28 linked to genes crucial for embryogenesis.However,none were found in coding regions,indicating no impact of chemotherapy on protein function.The RRBS analysis identified 99high-quality differentially methylated regions(hqDMRs)for which methylation status changed upon chemotherapy.Those hqDRMs were associated with 87 differentially methylated genes,among which 14 are known to be important or expressed during embryo development.While no variants were detected in coding regions,promoter regions of several genes potentially important for embryo development contained variants or displayed an altered methylated status.These might in turn modify the corresponding gene expression and thus affect their function during key stages of embryogenesis,leading to potential developmental disorders or miscarriages.
基金Project(10871231) supported by the National Natural Science Foundation of China
文摘Under consideration that the profiles of bands at close wavelengths are quite similar and the curvelets are good at capturing profiles, a junk band recovery algorithm for hyperspectral data based on curvelet transform is proposed. Both the noisy bands and the noise-free bands are transformed via curvelet band by band. The high frequency coefficients in junk bands are replaced with linear interpolation of the high frequency coefficients in noise-flee bands, and the low frequency coefficients remain the same to keep the main spectral characteristics from being distorted. Jutak bands then are recovered after the inverse curvelet transform. The performance of this method is tested on the hyperspectral data cube obtained by airborne visible/infrared imaging spectrometer （AVIRIS）. The experimental results show that the proposed method is superior to the traditional denoising method BayesShrink and the art-of-state Curvelet Shrinkage in both roots of mean square error （RMSE） and peak-signal-to-noise ratio （PSNR） of recovered bands.
基金We thank Drs.Wentong Meng and Qiaorong Huang(Laboratory of Stem Cell Biology,West China Hospital,Sichuan University)for assistance with experimental technology.Research in the authors’laboratory is supported by National Key Research and Development Program of China(2022YFA1100056,2018YFC1005004)Natural Science Foundation of China(NSFC)grants(#92254302,#31871429)+2 种基金National Science Fund for Distinguished Young Scholars(#32125012)1.3.5 project for disciplines of excellence,West China Hospital,Sichuan University(ZYGD20007 and ZYJC18011 to X.M.)Scientific and Technological Research Program of Chongqing Municipal Education Commission(KJQN20210436).
文摘Autism spectrum disorder(ASD)affects 1-2%of all children and poses a great social and economic challenge for the globe.As a highly heterogeneous neurodevelopmental disorder,the development of its treatment is extremely challenging.Multiple pathways have been linked to the pathogenesis of ASD,including signaling involved in synaptic function,oxytocinergic activities,immune homeostasis,chromatin modifications,and mitochondrial functions.Here,we identify secretagogin(SCGN),a regulator of synaptic transmission,as a new risk gene for ASD.Two heterozygous loss-of-function mutations in SCGN are presented in ASD probands.Deletion of Scgn in zebrafish or mice leads to autism-like behaviors and impairs brain development.Mechanistically,Scgn deficiency disrupts the oxytocin signaling and abnormally activates inflammation in both animal models.Both ASD probands carrying Scgn mutations also show reduced oxytocin levels.Importantly,we demonstrate that the administration of oxytocin and anti-inflammatory drugs can attenuate ASD-associated defects caused by SCGN deficiency.Altogether,we identify a convergence between a potential autism genetic risk factor SCGN,and the pathological deregulation in oxytocinergic signaling and immune responses,providing potential treatment for ASD patients suffering from SCGN deficiency.Our study also indicates that it is critical to identify and stratify ASD patient populations based on their disease mechanisms,which could greatly enhance therapeutic success.
