Two new dimeric diterpenes, birhodomolleins D （1） and E （2）, were characterized from the fruits of Rhododendron pumilum. Their structures featured two grayanane diterpenes dimerized through an oxygen bridge locati...Two new dimeric diterpenes, birhodomolleins D （1） and E （2）, were characterized from the fruits of Rhododendron pumilum. Their structures featured two grayanane diterpenes dimerized through an oxygen bridge locating at C-3 and C-2＇. They are the first examples of dimeric grayanane diterpenes with a 3-O-2＇ linkage from the Ericaceae family. Their structures were elucidated on the basis of comprehensive analysis of spectroscopic data.展开更多
Recent studies have shown that shorter periods of ejaculatory abstinence may enhance certain sperm parameters,but the molecular mechanisms underlying these improvements are still unclear.This study explored whether re...Recent studies have shown that shorter periods of ejaculatory abstinence may enhance certain sperm parameters,but the molecular mechanisms underlying these improvements are still unclear.This study explored whether reduced abstinence periods could improve semen quality,particularly for use in assisted reproductive technologies(ART).We analyzed semen samples from men with normal sperm counts(n=101)and those with low sperm motility or concentration(n=53)after 3-7 days of abstinence and then after 1-3h of abstinence,obtained from the Reproductive&Genetic Hospital of CITIC-Xiangya(Changsha,China).Physiological and biochemical sperm parameters were evaluated,and the dynamics of transfer RNA(tRNA)-derived fragments(tRFs)were analyzed using deep RNA sequencing in five consecutive samples from men with normal sperm counts.Our results revealed significant improvement in sperm motility and a decrease in the DNA fragmentation index after the 1-to 3-h abstinence period.Additionally,we identified 245 differentially expressed tRFs,and the mitogen-activated protein kinase(MAPK)signaling pathway was the most enriched.Further investigations showed significant changes in tRF-Lys-TTT and its target gene mitogen-activated protein kinase kinase 2(MAP2K2),which indicates a role of tRFs in improving sperm function.These findings provide new insights into how shorter abstinence periods influence sperm quality and suggest that tRFs may serve as biomarkers for male fertility.This research highlights the potential for optimizingART protocols and improving reproductive outcomes through molecular approaches that target sperm function.展开更多
Androgen insensitivity syndrome （AIS）, an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor （AR） gene, and is characterized by partial or complete inability of...Androgen insensitivity syndrome （AIS）, an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor （AR） gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46,XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype-phenotype correlations. Ten patients from unrelated families, aged 2-31 years, were recruited in the study. Based on karyotype, altered hormone profile, and clinical manifestations, nine patients were preliminarily diagnosed with complete AIS and one with partial AIS. Genetic analysis of AR gene revealed the existence of 10 different mutations, of which five were novel （c.2112 C〉G[p.STO4R], c.2290T〉A[p.Y764N], c.2626C〉T[p.Q876X], c.933dupC[p.K313Qfs＊28], and c.1067delC[p.A356Efs＊123]）; the other five were previously reported （c.1789G〉A[p.A597T], c.2566C〉T[p.R856C], c.2668G〉A[p.V890M], c.2679C〉T[p.P893L], and c.1605C〉G[p.Y535X]）. Regarding the distribution of these mutations, 60.0% were clustered in the ligand-binding domain of AR gene. Exons 1 and 8 of AR gene each accounted for 30.0% （3/10） of all mutations. Most of the truncation mutations were in exon 1 and missense mutations were mainly located in exons 4-8. Our study expands the spectrum of AR gene mutations and confirms the usefulness of AR gene sequencing to support a diagnosis of AIS and to enable prenatal or antenatal screening.展开更多
Necrozoospermia is a poorly documented condition with a low incidence,and its definition and clinical significance are unclear.Herein,we provide a reference range for necrozoospermia and discuss its possible etiology ...Necrozoospermia is a poorly documented condition with a low incidence,and its definition and clinical significance are unclear.Herein,we provide a reference range for necrozoospermia and discuss its possible etiology and impact on male fertility and assisted reproductive outcomes.We extracted relevant information from 650 Chinese male partners of infertile couples and statistically analyzed sperm vitality.Necrozoospermia was present in 3.4%(22/650)of our study population,and the lower cut-off value for sperm vitality was 75.3%.We compared two methods for assessing sperm vitality(eosin-nigrosin head staining and hypo-osmotic swelling test[HOST]),for which the percentage in the eosin-nigrosin group(mean±standard deviation[s.d.]:77.5%±10.5%)was significantly higher than that in the HOST group(mean±s.d.:58.1%±6.7%[5-10 min after incubation]and 55.6%±8.2%[25-30 min after incubation];both P<0.001).The incidence of necrozoospermia increased with age(odds ratio[OR]=1.116,95%confidence interval[CI]:1.048-1.189,P=0.001),while the percentage of normal sperm morphology and DNA fragmentation index(DFI)were significantly associated with necrozoospermia,with ORs of 0.691(95%CI:0.511-0.935,P=0.017)and 1.281(95%CI:1.180-1.390,P<0.001),respectively.In the following 6 months,we recruited 166 patients in the nonnecrozoospermia group and 87 patients in the necrozoospermia group to compare intracytoplasmic sperm injection(ICSI)and pregnancy outcomes between the two groups.The necrozoospermia group had a significantly lower normal fertilization rate(74.7%vs 78.2%,P=0.041;OR=0.822;95%CI:0.682-0.992)than that in the nonnecrozoospermia group.This study presents substantial information on necrozoospermia to establish comprehensive and applicable reference values for sperm vitality for spontaneous conception and artificially assisted reproductive management.展开更多
Dear Editor, Androgen insensitivity syndrome （AIS） is a common 46, XY disorder of sex development resulting from androgen resistance. AIS can be subdivided into three phenotypes according to the degree of external ...Dear Editor, Androgen insensitivity syndrome （AIS） is a common 46, XY disorder of sex development resulting from androgen resistance. AIS can be subdivided into three phenotypes according to the degree of external genital defects： complete AIS （CAIS）, with typical female external genitalia; partial AIS, with predominantly male or ambiguous external genitalia; and mild AIS, with typical male external genitalia. CAIS is the classical manifestation of AIS. Individuals affected by CAIS typically exhibit inguinal swellings during infancy or primary amenorrhea during puberty） AIS is usually caused by mutations in the androgen receptor （AR） gene.展开更多
基金the financial support of the National Science & Technology Major Project“Key New Drug Creation and Manufacturing Program”(No.2015ZX09103002)the National Natural Science Fundation of China(No.81673327)the grants from the Key Laboratory of Drug Research, Shanghai Institute of Materia Medica(No. SIMM1501ZZ-03)
文摘Two new dimeric diterpenes, birhodomolleins D （1） and E （2）, were characterized from the fruits of Rhododendron pumilum. Their structures featured two grayanane diterpenes dimerized through an oxygen bridge locating at C-3 and C-2＇. They are the first examples of dimeric grayanane diterpenes with a 3-O-2＇ linkage from the Ericaceae family. Their structures were elucidated on the basis of comprehensive analysis of spectroscopic data.
基金supported by grants from the National Key R&D Program of China(2022YFC2702700)Natural Science Foundation of Hunan Province(2024JJ6725 and 2022JJ40657)+1 种基金Hunan Provincial Grant for Innovative Province Construction(2019SK4012)the Reproductive and Genetic Hospital of CITIC-Xiangya Foundation(YNXM-202003).
文摘Recent studies have shown that shorter periods of ejaculatory abstinence may enhance certain sperm parameters,but the molecular mechanisms underlying these improvements are still unclear.This study explored whether reduced abstinence periods could improve semen quality,particularly for use in assisted reproductive technologies(ART).We analyzed semen samples from men with normal sperm counts(n=101)and those with low sperm motility or concentration(n=53)after 3-7 days of abstinence and then after 1-3h of abstinence,obtained from the Reproductive&Genetic Hospital of CITIC-Xiangya(Changsha,China).Physiological and biochemical sperm parameters were evaluated,and the dynamics of transfer RNA(tRNA)-derived fragments(tRFs)were analyzed using deep RNA sequencing in five consecutive samples from men with normal sperm counts.Our results revealed significant improvement in sperm motility and a decrease in the DNA fragmentation index after the 1-to 3-h abstinence period.Additionally,we identified 245 differentially expressed tRFs,and the mitogen-activated protein kinase(MAPK)signaling pathway was the most enriched.Further investigations showed significant changes in tRF-Lys-TTT and its target gene mitogen-activated protein kinase kinase 2(MAP2K2),which indicates a role of tRFs in improving sperm function.These findings provide new insights into how shorter abstinence periods influence sperm quality and suggest that tRFs may serve as biomarkers for male fertility.This research highlights the potential for optimizingART protocols and improving reproductive outcomes through molecular approaches that target sperm function.
基金The authors are grateful to the patients and their family members for participating in this study. This study was supported by grants from the National Natural Science Foundation of China （81771645 and 81471432 to YQT）.
文摘Androgen insensitivity syndrome （AIS）, an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor （AR） gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46,XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype-phenotype correlations. Ten patients from unrelated families, aged 2-31 years, were recruited in the study. Based on karyotype, altered hormone profile, and clinical manifestations, nine patients were preliminarily diagnosed with complete AIS and one with partial AIS. Genetic analysis of AR gene revealed the existence of 10 different mutations, of which five were novel （c.2112 C〉G[p.STO4R], c.2290T〉A[p.Y764N], c.2626C〉T[p.Q876X], c.933dupC[p.K313Qfs＊28], and c.1067delC[p.A356Efs＊123]）; the other five were previously reported （c.1789G〉A[p.A597T], c.2566C〉T[p.R856C], c.2668G〉A[p.V890M], c.2679C〉T[p.P893L], and c.1605C〉G[p.Y535X]）. Regarding the distribution of these mutations, 60.0% were clustered in the ligand-binding domain of AR gene. Exons 1 and 8 of AR gene each accounted for 30.0% （3/10） of all mutations. Most of the truncation mutations were in exon 1 and missense mutations were mainly located in exons 4-8. Our study expands the spectrum of AR gene mutations and confirms the usefulness of AR gene sequencing to support a diagnosis of AIS and to enable prenatal or antenatal screening.
基金supported by the Hunan Province Municipal Natural Science Foundation(No.2022JJ30018 to WNL)the Hunan Province Health Commission Science Foundation(No.B202301037899 to WNL)Research Grant of CITIC-Xiangya(No.YNXM-202219 to WNL).
文摘Necrozoospermia is a poorly documented condition with a low incidence,and its definition and clinical significance are unclear.Herein,we provide a reference range for necrozoospermia and discuss its possible etiology and impact on male fertility and assisted reproductive outcomes.We extracted relevant information from 650 Chinese male partners of infertile couples and statistically analyzed sperm vitality.Necrozoospermia was present in 3.4%(22/650)of our study population,and the lower cut-off value for sperm vitality was 75.3%.We compared two methods for assessing sperm vitality(eosin-nigrosin head staining and hypo-osmotic swelling test[HOST]),for which the percentage in the eosin-nigrosin group(mean±standard deviation[s.d.]:77.5%±10.5%)was significantly higher than that in the HOST group(mean±s.d.:58.1%±6.7%[5-10 min after incubation]and 55.6%±8.2%[25-30 min after incubation];both P<0.001).The incidence of necrozoospermia increased with age(odds ratio[OR]=1.116,95%confidence interval[CI]:1.048-1.189,P=0.001),while the percentage of normal sperm morphology and DNA fragmentation index(DFI)were significantly associated with necrozoospermia,with ORs of 0.691(95%CI:0.511-0.935,P=0.017)and 1.281(95%CI:1.180-1.390,P<0.001),respectively.In the following 6 months,we recruited 166 patients in the nonnecrozoospermia group and 87 patients in the necrozoospermia group to compare intracytoplasmic sperm injection(ICSI)and pregnancy outcomes between the two groups.The necrozoospermia group had a significantly lower normal fertilization rate(74.7%vs 78.2%,P=0.041;OR=0.822;95%CI:0.682-0.992)than that in the nonnecrozoospermia group.This study presents substantial information on necrozoospermia to establish comprehensive and applicable reference values for sperm vitality for spontaneous conception and artificially assisted reproductive management.
基金This study was supported by a grant from the National Natural Science Foundation of China （No, 81471432）,
文摘Dear Editor, Androgen insensitivity syndrome （AIS） is a common 46, XY disorder of sex development resulting from androgen resistance. AIS can be subdivided into three phenotypes according to the degree of external genital defects： complete AIS （CAIS）, with typical female external genitalia; partial AIS, with predominantly male or ambiguous external genitalia; and mild AIS, with typical male external genitalia. CAIS is the classical manifestation of AIS. Individuals affected by CAIS typically exhibit inguinal swellings during infancy or primary amenorrhea during puberty） AIS is usually caused by mutations in the androgen receptor （AR） gene.
