Bocapavovirus,a member of the genus Bocaparvovirus within the subfamily Parvovirinae and the family Parvoviridae,is a small,non-enveloped,single-stranded DNA virus.This pathogen poses health risks to both humans and a...Bocapavovirus,a member of the genus Bocaparvovirus within the subfamily Parvovirinae and the family Parvoviridae,is a small,non-enveloped,single-stranded DNA virus.This pathogen poses health risks to both humans and animals.The Bocaparvovirus genome.展开更多
ObjectiveToanalyze clinica1l and genetic characteristics of congenital hypogonadotropic hypogonadism(CHH)in children.Methods Clinical data of O-18 year old CHH patients diagnosed in the Department of Endocrinology,Gen...ObjectiveToanalyze clinica1l and genetic characteristics of congenital hypogonadotropic hypogonadism(CHH)in children.Methods Clinical data of O-18 year old CHH patients diagnosed in the Department of Endocrinology,Genetics and Metabolism of Children's Hospital Affiliated to Zhengzhou University from January 1,2016 to December 31,2023 were retrospectively analyzed,including their hormone levels and genetic test results.Results A total of 95 patients with CHH were included.Among them,25 were diagnosed before the age of 3,37 between the ages of 3-14,and 33 were over 14 years old at the time of first diagnosis.The primary manifestations were micropenis(95 cases,100%)and cryptorchidism(46 cases,48.5%).The incidence of cryptorchidism was the lowest in the group over 14 years of age.Hormonal analysis revealed that the peak levels of LH following statin B and GnRH stimulation,the peak levels of FSH after GnRH stimulation,and testosterone levels following hCG stimulation were the highest in the infant group.Genetic analysis identified 20 CHH-related genes in 61 out of 77 cases.Doublegene mutation accounted for 7.8%(6/77)and triple-gene mutation accounted for 3.9%(3/77).The most common mutations were FGFR1(18/77,23.4%),,CHD7(12/77,15.6%),PROKR2(11/77,14.3%)and ANOSI(6/77,7.8%).The incidence of cryptorchidism in these four genotypes was 50%,75%,45.5%and 83.3%,respectively.The incidence of testicular dysfunction was 22.2%,16.7%,27.3%,and 16.7%,respectively,with no statistical significance.Conclusion The primary manifestation of CHH is micropenis and cryptorchidism.In children with CHH,the incidence of testicular Leydig cell and Sertoli cell dysfunction increased with age in CHH children.FCFR1,CHD7,PROKR22andANOS1 are common variants of CHH.展开更多
Objective To retrospectively analyze the clinical,imaging,pathological and genetic features in patients with pulmonary artery sarcoma(PAS)in a single center,and to investigate the disease origin of PAS,as well as its ...Objective To retrospectively analyze the clinical,imaging,pathological and genetic features in patients with pulmonary artery sarcoma(PAS)in a single center,and to investigate the disease origin of PAS,as well as its relationship with other pulmonary vascular diseases.Methods We retrospectively identified and analyzed clinical features of 13 cases with PAS those were admitted in the First Affiliated Hospital of Guangzhou Medical University between January 2015 and January 2021.Whole exome sequencing(WES)was performed to further analyze their genetic characteristics in8 postoperative specimens.Results The average age of PAS patients was 26-67(43.2±11.6)years,and the median time from symptom to diagnosis was 8 months(IQR:3,11.5).The most common symptom of PAS was shortness of breath(84.6%),and the most common complication was pulmonary hypertension(69.2%).A total of 5 genes with specific mutations in PAS patients were identified by genomic analysis.Compared with genetic features of pulmonary embolism(PE),pulmonary arterial hypertension(PAH)and lung cancer(LC),we found genetic similarity between PAS and LC.Using KEEG database,we identified that most of the PASmutated genes belonged to cancer-enriched signaling pathways.Conclusion PAS is a kind of malignant tumor located in the pulmonary vascular trunk,without a good prognosis and specific clinical manifstations.The occurrence of PAS may be associathed with mutations of MDM2,PIK3CA and TP53.展开更多
Adult T-cell lymphoblastic lymphoma(T-LBL)is a rare and aggressive subtype of non-Hodgkin’s lymphoma that differs from pediatric T-LBL and has a worse prognosis.Due to its rarity,little is known about the genetic and...Adult T-cell lymphoblastic lymphoma(T-LBL)is a rare and aggressive subtype of non-Hodgkin’s lymphoma that differs from pediatric T-LBL and has a worse prognosis.Due to its rarity,little is known about the genetic and molecular characteristics,optimal treatment modalities,and prognostic factors of adult T-LBL.Therefore,we summarized the existing studies to comprehensively discuss the above issues in this review.Genetic mutations of NOTCH1/FBXW7,PTEN,RAS,and KMT2D,together with abnormal activation of signaling pathways,such as the JAK-STAT signaling pathway were described.We also discussed the therapeutic modalities.Once diagnosed,adult T-LBL patients should receive intensive or pediatric acute lymphoblastic leukemia regimen and central nervous system prophylaxis as soon as possible,and cranial radiation-free protocols are appropriate.Mediastinal radiotherapy improves clinical outcomes,but adverse events are of concern.Hematopoietic stem cell transplantation may be considered for adult T-LBL patients with high-risk factors or those with relapsed/refractory disease.Besides,several novel prognostic models have been constructed,such as the 5-miRNAs-based classifier,11-gene-based classifier,and 4-CpG-based classifier,which have presented significant prognostic value in adult T-LBL.展开更多
BACKGROUND Adolescent/adult pancreatoblastoma(PB)is an uncommon malignant pancreatic tumor.The paucity of data stemming from the rarity of this disease leads to minimal generalized guidelines regarding its diagnosis a...BACKGROUND Adolescent/adult pancreatoblastoma(PB)is an uncommon malignant pancreatic tumor.The paucity of data stemming from the rarity of this disease leads to minimal generalized guidelines regarding its diagnosis and treatment.There is a limited number of case reports in the literature and there has been no recent analysis of the literature to consolidate their common features.The purpose of the featured study is to review the available cases of adolescent/adult PB and analyze the common genetic features,histologic features,treatment regimens,tumor sizes,tumor locations,and areas of metastasis to advance ongoing research and better understand and treat this rare condition.AIM To present a patient case and systematically review all available cases in the literature to consolidate the common physical,genetic,and histologic features of PB.METHODS This is a systematic review of the literature with a case study.A total of 89 patient cases were discovered in the literature database for adolescent/adult PB,all of which were reviewed and are included in our research.Patients aged 16-18 were considered adolescent and patients aged greater than 18 were considered adult.Adolescents and adults were grouped together for the purpose of this study.The patient from the case report was seen in a community hospital setting.RESULTS The 89 cases analyzed from the literature were found in 51 references(our case report included),which were consolidated into the six categories mentioned above.A plurality of references reports PB in the head of the pancreas,4.0-10.0 cm in size,and with the most common site of metastasis to the liver.Histology studies most commonly included acinar groups,squamous corpuscles/nests,cytokeratin,chromogranin,trypsin,chymotrypsin,and synaptophysin.Genetic studies most commonly included adenomatous polyposis coli,B-cell lymphoma/leukemia 10,catenin beta 1,and Wnt/beta-catenin mutations.The mainstay of treatment was surgery with chemotherapy typically including cisplatin,carboplatin,doxorubicin,5 fluorouracil,mitomycin,bleomycin,gemcitabine,and vindesine.Radiation was also often used.CONCLUSION Common pancreatoblastoma features include acinar groups,chromogranin,chymotrypsin,squamous corpuscles,synaptophysin and trypsin on histology and adenomatous polyposis coli,B-cell lymphoma/leukemia 10,catenin beta 1,and Wnt/beta-catenin genetic mutations.展开更多
Objective To analyze the clinical and genetic features of four children with pediatric acute liver failure(PALF)caused by neuroblastoma-amplified sequence(NBAS)gene variant,as well as the correlation between clinical ...Objective To analyze the clinical and genetic features of four children with pediatric acute liver failure(PALF)caused by neuroblastoma-amplified sequence(NBAS)gene variant,as well as the correlation between clinical phenotype and genotype.Methods The clinical data and genetic test results of four children with NBAS gene variants admitted to the Department of Gastroenterology,Children's Hospital Affiliated to Zhejiang University School of Medicine from August 2015 to June 2023 mainly presenting with pediatric acuteliverfailure(PALF)were retrospectively analyzed.The relevant literature from January 2015 to May 2024 was retrieved using the Chinese and English keywords"NBAS,""neuroblastoma amplified sequence,""SOPH,""short stature with optic nerve atrophy and Pelger Huet anomaly,""liver failure,"and"neuroblastoma amplified sequence"indexed in the CNKI database,Wanfang Data Knowledge Service Platform,and PubMed database.The clinical features and gene mutation characteristics of domestic patients were summarized.Results The age at which the initial PALF attack occurred in the four children varied from eight months to three years and seven months.All patients developed PALF within 1-2 days after the onset of fever,with symptoms such as vomiting,convulsions,and mental depression or confusion,accompanied by a sharp increase in transaminases,elevated bilirubin and blood ammonia,hyperlactatemia,and hepatomegaly.The PALF gradually improved,and three pediatric patients showed extrahepatic manifestations following antipyretic,fluid replacement,and other symptomatic supportive treatment.Long-term follow-up showed that active temperature control and symptomatic therapy reduced the recurrence of PALF.Genetic testing identified eight kinds of NBASgenevariantssites.Family testing validated compound heterozygous variants,which included four missense variants,one nonsense variants,and three frameshift mutations.A literature study revealed that out of 51 Chinese patients with NBAS gene variants,98.0%(50/51)had liver involvement,and 37 cases showed PALF.A total of 61 mutation sites were identified,with c.3596G>A(45.1%,23/51)as a hotspot variants.Conclusion PALF caused by NBAS gene variant has obvious clinical and genetic characteristics,and there is a correlation between genotype and clinical phenotype.The c.3596G>A variant site is a hotspot mutation in China and is strongly correlated with the liver failure phenotype.展开更多
Objective To analyze the clinical phenotypes and genetic features of a child with developmental and epileptic encephalopathy due to compound heterozygous variants in the ALG14 gene,and to improve clinicians'unders...Objective To analyze the clinical phenotypes and genetic features of a child with developmental and epileptic encephalopathy due to compound heterozygous variants in the ALG14 gene,and to improve clinicians'understanding of the ALG14 gene and its associated disorders.展开更多
Apple leaf disease is one of the main factors to constrain the apple production and quality.It takes a long time to detect the diseases by using the traditional diagnostic approach,thus farmers often miss the best tim...Apple leaf disease is one of the main factors to constrain the apple production and quality.It takes a long time to detect the diseases by using the traditional diagnostic approach,thus farmers often miss the best time to prevent and treat the diseases.Apple leaf disease recognition based on leaf image is an essential research topic in the field of computer vision,where the key task is to find an effective way to represent the diseased leaf images.In this research,based on image processing techniques and pattern recognition methods,an apple leaf disease recognition method was proposed.A color transformation structure for the input RGB(Red,Green and Blue)image was designed firstly and then RGB model was converted to HSI(Hue,Saturation and Intensity),YUV and gray models.The background was removed based on a specific threshold value,and then the disease spot image was segmented with region growing algorithm(RGA).Thirty-eight classifying features of color,texture and shape were extracted from each spot image.To reduce the dimensionality of the feature space and improve the accuracy of the apple leaf disease identification,the most valuable features were selected by combining genetic algorithm(GA)and correlation based feature selection(CFS).Finally,the diseases were recognized by SVM classifier.In the proposed method,the selected feature subset was globally optimum.The experimental results of more than 90%correct identification rate on the apple diseased leaf image database which contains 90 disease images for there kinds of apple leaf diseases,powdery mildew,mosaic and rust,demonstrate that the proposed method is feasible and effective.展开更多
基金supported by the Natural Science Foundation of Sichuan Province,China(2024NSFSC1272)the Innovation Team Development Funds for Sichuan Mutton Goat&Sheep,China(SCCXTD-2024-14)Scientific and Technological Innovation Team for Qinghai-Tibetan Plateau Research in Southwest Minzu University,China(2024CXTD08)。
文摘Bocapavovirus,a member of the genus Bocaparvovirus within the subfamily Parvovirinae and the family Parvoviridae,is a small,non-enveloped,single-stranded DNA virus.This pathogen poses health risks to both humans and animals.The Bocaparvovirus genome.
文摘ObjectiveToanalyze clinica1l and genetic characteristics of congenital hypogonadotropic hypogonadism(CHH)in children.Methods Clinical data of O-18 year old CHH patients diagnosed in the Department of Endocrinology,Genetics and Metabolism of Children's Hospital Affiliated to Zhengzhou University from January 1,2016 to December 31,2023 were retrospectively analyzed,including their hormone levels and genetic test results.Results A total of 95 patients with CHH were included.Among them,25 were diagnosed before the age of 3,37 between the ages of 3-14,and 33 were over 14 years old at the time of first diagnosis.The primary manifestations were micropenis(95 cases,100%)and cryptorchidism(46 cases,48.5%).The incidence of cryptorchidism was the lowest in the group over 14 years of age.Hormonal analysis revealed that the peak levels of LH following statin B and GnRH stimulation,the peak levels of FSH after GnRH stimulation,and testosterone levels following hCG stimulation were the highest in the infant group.Genetic analysis identified 20 CHH-related genes in 61 out of 77 cases.Doublegene mutation accounted for 7.8%(6/77)and triple-gene mutation accounted for 3.9%(3/77).The most common mutations were FGFR1(18/77,23.4%),,CHD7(12/77,15.6%),PROKR2(11/77,14.3%)and ANOSI(6/77,7.8%).The incidence of cryptorchidism in these four genotypes was 50%,75%,45.5%and 83.3%,respectively.The incidence of testicular dysfunction was 22.2%,16.7%,27.3%,and 16.7%,respectively,with no statistical significance.Conclusion The primary manifestation of CHH is micropenis and cryptorchidism.In children with CHH,the incidence of testicular Leydig cell and Sertoli cell dysfunction increased with age in CHH children.FCFR1,CHD7,PROKR22andANOS1 are common variants of CHH.
文摘Objective To retrospectively analyze the clinical,imaging,pathological and genetic features in patients with pulmonary artery sarcoma(PAS)in a single center,and to investigate the disease origin of PAS,as well as its relationship with other pulmonary vascular diseases.Methods We retrospectively identified and analyzed clinical features of 13 cases with PAS those were admitted in the First Affiliated Hospital of Guangzhou Medical University between January 2015 and January 2021.Whole exome sequencing(WES)was performed to further analyze their genetic characteristics in8 postoperative specimens.Results The average age of PAS patients was 26-67(43.2±11.6)years,and the median time from symptom to diagnosis was 8 months(IQR:3,11.5).The most common symptom of PAS was shortness of breath(84.6%),and the most common complication was pulmonary hypertension(69.2%).A total of 5 genes with specific mutations in PAS patients were identified by genomic analysis.Compared with genetic features of pulmonary embolism(PE),pulmonary arterial hypertension(PAH)and lung cancer(LC),we found genetic similarity between PAS and LC.Using KEEG database,we identified that most of the PASmutated genes belonged to cancer-enriched signaling pathways.Conclusion PAS is a kind of malignant tumor located in the pulmonary vascular trunk,without a good prognosis and specific clinical manifstations.The occurrence of PAS may be associathed with mutations of MDM2,PIK3CA and TP53.
基金This work was supported by the Special Support Program of Sun Yat-sen University Cancer Center(PT19020401)the Science and Technology Planning Project of Guangzhou,China(202002030205)the Clinical Oncology Foundation of Chinese Society of Clinical Oncology(Y-XD2019-124).
文摘Adult T-cell lymphoblastic lymphoma(T-LBL)is a rare and aggressive subtype of non-Hodgkin’s lymphoma that differs from pediatric T-LBL and has a worse prognosis.Due to its rarity,little is known about the genetic and molecular characteristics,optimal treatment modalities,and prognostic factors of adult T-LBL.Therefore,we summarized the existing studies to comprehensively discuss the above issues in this review.Genetic mutations of NOTCH1/FBXW7,PTEN,RAS,and KMT2D,together with abnormal activation of signaling pathways,such as the JAK-STAT signaling pathway were described.We also discussed the therapeutic modalities.Once diagnosed,adult T-LBL patients should receive intensive or pediatric acute lymphoblastic leukemia regimen and central nervous system prophylaxis as soon as possible,and cranial radiation-free protocols are appropriate.Mediastinal radiotherapy improves clinical outcomes,but adverse events are of concern.Hematopoietic stem cell transplantation may be considered for adult T-LBL patients with high-risk factors or those with relapsed/refractory disease.Besides,several novel prognostic models have been constructed,such as the 5-miRNAs-based classifier,11-gene-based classifier,and 4-CpG-based classifier,which have presented significant prognostic value in adult T-LBL.
基金Supported by the Honor Health Foundation,Michael and Mary Ellen Francisthe Seena Magowitz Foundation.
文摘BACKGROUND Adolescent/adult pancreatoblastoma(PB)is an uncommon malignant pancreatic tumor.The paucity of data stemming from the rarity of this disease leads to minimal generalized guidelines regarding its diagnosis and treatment.There is a limited number of case reports in the literature and there has been no recent analysis of the literature to consolidate their common features.The purpose of the featured study is to review the available cases of adolescent/adult PB and analyze the common genetic features,histologic features,treatment regimens,tumor sizes,tumor locations,and areas of metastasis to advance ongoing research and better understand and treat this rare condition.AIM To present a patient case and systematically review all available cases in the literature to consolidate the common physical,genetic,and histologic features of PB.METHODS This is a systematic review of the literature with a case study.A total of 89 patient cases were discovered in the literature database for adolescent/adult PB,all of which were reviewed and are included in our research.Patients aged 16-18 were considered adolescent and patients aged greater than 18 were considered adult.Adolescents and adults were grouped together for the purpose of this study.The patient from the case report was seen in a community hospital setting.RESULTS The 89 cases analyzed from the literature were found in 51 references(our case report included),which were consolidated into the six categories mentioned above.A plurality of references reports PB in the head of the pancreas,4.0-10.0 cm in size,and with the most common site of metastasis to the liver.Histology studies most commonly included acinar groups,squamous corpuscles/nests,cytokeratin,chromogranin,trypsin,chymotrypsin,and synaptophysin.Genetic studies most commonly included adenomatous polyposis coli,B-cell lymphoma/leukemia 10,catenin beta 1,and Wnt/beta-catenin mutations.The mainstay of treatment was surgery with chemotherapy typically including cisplatin,carboplatin,doxorubicin,5 fluorouracil,mitomycin,bleomycin,gemcitabine,and vindesine.Radiation was also often used.CONCLUSION Common pancreatoblastoma features include acinar groups,chromogranin,chymotrypsin,squamous corpuscles,synaptophysin and trypsin on histology and adenomatous polyposis coli,B-cell lymphoma/leukemia 10,catenin beta 1,and Wnt/beta-catenin genetic mutations.
文摘Objective To analyze the clinical and genetic features of four children with pediatric acute liver failure(PALF)caused by neuroblastoma-amplified sequence(NBAS)gene variant,as well as the correlation between clinical phenotype and genotype.Methods The clinical data and genetic test results of four children with NBAS gene variants admitted to the Department of Gastroenterology,Children's Hospital Affiliated to Zhejiang University School of Medicine from August 2015 to June 2023 mainly presenting with pediatric acuteliverfailure(PALF)were retrospectively analyzed.The relevant literature from January 2015 to May 2024 was retrieved using the Chinese and English keywords"NBAS,""neuroblastoma amplified sequence,""SOPH,""short stature with optic nerve atrophy and Pelger Huet anomaly,""liver failure,"and"neuroblastoma amplified sequence"indexed in the CNKI database,Wanfang Data Knowledge Service Platform,and PubMed database.The clinical features and gene mutation characteristics of domestic patients were summarized.Results The age at which the initial PALF attack occurred in the four children varied from eight months to three years and seven months.All patients developed PALF within 1-2 days after the onset of fever,with symptoms such as vomiting,convulsions,and mental depression or confusion,accompanied by a sharp increase in transaminases,elevated bilirubin and blood ammonia,hyperlactatemia,and hepatomegaly.The PALF gradually improved,and three pediatric patients showed extrahepatic manifestations following antipyretic,fluid replacement,and other symptomatic supportive treatment.Long-term follow-up showed that active temperature control and symptomatic therapy reduced the recurrence of PALF.Genetic testing identified eight kinds of NBASgenevariantssites.Family testing validated compound heterozygous variants,which included four missense variants,one nonsense variants,and three frameshift mutations.A literature study revealed that out of 51 Chinese patients with NBAS gene variants,98.0%(50/51)had liver involvement,and 37 cases showed PALF.A total of 61 mutation sites were identified,with c.3596G>A(45.1%,23/51)as a hotspot variants.Conclusion PALF caused by NBAS gene variant has obvious clinical and genetic characteristics,and there is a correlation between genotype and clinical phenotype.The c.3596G>A variant site is a hotspot mutation in China and is strongly correlated with the liver failure phenotype.
文摘Objective To analyze the clinical phenotypes and genetic features of a child with developmental and epileptic encephalopathy due to compound heterozygous variants in the ALG14 gene,and to improve clinicians'understanding of the ALG14 gene and its associated disorders.
基金Natural Science Foundation of China(grant Nos.61473237,61202170,and 61402331)It is also supported by the Shaanxi Provincial Natural Science Foundation Research Project(2014JM2-6096)+3 种基金Tianjin Research Program of Application Foundation and Advanced Technology(14JCYBJC42500)Tianjin science and technology correspondent project(16JCTPJC47300)the 2015 key projects of Tianjin science and technology support program(No.15ZCZDGX00200)the Fund of Tianjin Food Safety&Low Carbon Manufacturing Collaborative Innovation Center.
文摘Apple leaf disease is one of the main factors to constrain the apple production and quality.It takes a long time to detect the diseases by using the traditional diagnostic approach,thus farmers often miss the best time to prevent and treat the diseases.Apple leaf disease recognition based on leaf image is an essential research topic in the field of computer vision,where the key task is to find an effective way to represent the diseased leaf images.In this research,based on image processing techniques and pattern recognition methods,an apple leaf disease recognition method was proposed.A color transformation structure for the input RGB(Red,Green and Blue)image was designed firstly and then RGB model was converted to HSI(Hue,Saturation and Intensity),YUV and gray models.The background was removed based on a specific threshold value,and then the disease spot image was segmented with region growing algorithm(RGA).Thirty-eight classifying features of color,texture and shape were extracted from each spot image.To reduce the dimensionality of the feature space and improve the accuracy of the apple leaf disease identification,the most valuable features were selected by combining genetic algorithm(GA)and correlation based feature selection(CFS).Finally,the diseases were recognized by SVM classifier.In the proposed method,the selected feature subset was globally optimum.The experimental results of more than 90%correct identification rate on the apple diseased leaf image database which contains 90 disease images for there kinds of apple leaf diseases,powdery mildew,mosaic and rust,demonstrate that the proposed method is feasible and effective.
