Background Many phenotypes in animal breeding are derived from incomplete measures,especially if they are challenging or expensive to measure precisely.Examples include time-dependent traits such as reproductive statu...Background Many phenotypes in animal breeding are derived from incomplete measures,especially if they are challenging or expensive to measure precisely.Examples include time-dependent traits such as reproductive status,or lifespan.Incomplete measures for these traits result in phenotypes that are subject to left-,interval-and rightcensoring,where phenotypes are only known to fall below an upper bound,between a lower and upper bound,or above a lower bound respectively.Here we compare three methods for deriving phenotypes from incomplete data using age at first elevation(>1 ng/mL)in blood plasma progesterone(AGEP4),which generally coincides with onset of puberty,as an example trait.Methods We produced AGEP4 phenotypes from three blood samples collected at about 30-day intervals from approximately 5,000 Holstein–Friesian or Holstein–Friesian×Jersey cross-bred dairy heifers managed in 54 seasonal-calving,pasture-based herds in New Zealand.We used these actual data to simulate 7 different visit scenarios,increasing the extent of censoring by disregarding data from one or two of the three visits.Three methods for deriving phenotypes from these data were explored:1)ordinal categorical variables which were analysed using categorical threshold analysis;2)continuous variables,with a penalty of 31 d assigned to right-censored phenotypes;and 3)continuous variables,sampled from within a lower and upper bound using a data augmentation approach.Results Credibility intervals for heritability estimations overlapped across all methods and visit scenarios,but estimated heritabilities tended to be higher when left censoring was reduced.For sires with at least 5 daughters,the correlations between estimated breeding values(EBVs)from our three-visit scenario and each reduced data scenario varied by method,ranging from 0.65 to 0.95.The estimated breed effects also varied by method,but breed differences were smaller as phenotype censoring increased.Conclusion Our results indicate that using some methods,phenotypes derived from one observation per offspring for a time-dependent trait such as AGEP4 may provide comparable sire rankings to three observations per offspring.This has implications for the design of large-scale phenotyping initiatives where animal breeders aim to estimate variance parameters and estimated breeding values(EBVs)for phenotypes that are challenging to measure or prohibitively expensive.展开更多
Background: Hypothalamic hamartoma is a rare non-neoplastic lesion, typically identified in early childhood during investigations for precocious puberty and/or gelastic seizures. However, cases of diagnosis even earli...Background: Hypothalamic hamartoma is a rare non-neoplastic lesion, typically identified in early childhood during investigations for precocious puberty and/or gelastic seizures. However, cases of diagnosis even earlier or during fetal development have been documented. Case Presentation: A newborn girl was diagnosed with hydrocephalus during pregnancy. An MRI revealed a large oval hypothalamic process, which suggested a hypothalamic hamartoma. At the age of 2, she experienced alternating crying and laughing seizures, followed by a decrease in visual acuity. Due to involvement of the optic pathways, surgery was not performed and she underwent antiepileptic medicines and gamma knife radiotherapy. At the age of 5 years and 3 months, she presented with breast development and laboratory tests confirmed central precocious puberty. Quarterly injections of GnRH agonists have since been administered with favorable results. Conclusion: Early-diagnosed hypothalamic hamartomas require close monitoring, by an experienced multidisciplinary, to promptly detect and treat potential complications, especially precocious puberty, and prevent any undesirable impact on final height.展开更多
BACKGROUND Recent publications from several countries have reported that more young people(mainly girls)are experiencing precocious puberty(PP)/menarche during the coronavirus disease 2019 pandemic compared to the pas...BACKGROUND Recent publications from several countries have reported that more young people(mainly girls)are experiencing precocious puberty(PP)/menarche during the coronavirus disease 2019 pandemic compared to the past.This variation is attributed to the stress of confinement,lack of exercise,obesity and disturbed sleep patterns.A common feature of the relevant papers,however,is the small number of reported cases of PP.Studies have shown that searches for diseases on the internet also reflect to some extent the epidemiology of these diseases.AIM To estimate,through internet searches for PP,any changes in the epidemiology of PP.METHODS We assessed in Google Trends searches for 21 PP-related terms in English internationally(which practically dwarf searches in other languages),in the years 2017-2021.Additionally,we assessed local searches for selected terms,in English and local languages,in countries where a rise in PP has been reported.Searches were collected in Relative Search Volumes format and analyzed using Kendall’s Tau test,with a statistical significance threshold of P<0.05.RESULTS Internationally,searches for three PP-related terms showed no noticeable change over the study period,while searches for eight terms showed a decrease.An increase was found over time in searches for nine PP-related terms.Of the 17 searches in English and local languages,in countries where a rise in PP has been reported,5 showed a significant increase over time.CONCLUSION Over the study period,more than half of the search terms showed little change or declined.The discrepancy between internet searches for PP and the reported increase in the literature is striking.It would be expected that a true increase in the incidence of PP would also be aptly reflected in Google trends.If our findings are valid,the literature may have been biased.The known secular trend of decreasing age of puberty may also have played a role.展开更多
Background: Ovarian tumors in the girl child are sometimes revealed by the development of secondary sexual characteristics. The authors report the case of a five-year-old girl in whom the disease was revealed by early...Background: Ovarian tumors in the girl child are sometimes revealed by the development of secondary sexual characteristics. The authors report the case of a five-year-old girl in whom the disease was revealed by early puberty. Case presentation: A five-year-old girl with an enlarged abdomen for about four months. The onset of pain and the sensation of a mass prompted the consultation. The development of secondary sexual characteristics (SSC) noted by the family had not been mentioned. The patient was classified as pubertal stage 2 according to the Tanner classification. An abdominal ultrasound and a CT scan showed a large left ovarian mass, an enlarged uterus for the patient’s age and a normal right ovary. The hormonal workup was not contributive. The treatment consisted only of a left salpingo-ovarectomy, without complementary chemotherapy. Anatomic pathological examination of the surgical specimen concluded to a juvenile tumor of the granulosa. The evolution was good with a beginning of regression of the HSC one month after the ovarectomy. Discussion: Granulosa tumors are sometimes secretory cancers, generally with a low potential for malignancy and therefore a very good prognosis. Surgery based on total adnexectomy is the first-line treatment. The large size of the tumor, the presence of ascites and capsular rupture are factors of poor prognosis, hence the importance of early diagnosis. Conclusion: Routine comprehensive physical examination should be de rigueur for abdominal masses in girls, especially in the context of various beliefs that may impede early referral to care.展开更多
Objective:To observe the clinical efficacy of different dosage forms of lepraline acetate(LA)in the treatment of girls with central precocious puberty(CPP).Methods:72 CPP girls treated in the Department of Pediatrics ...Objective:To observe the clinical efficacy of different dosage forms of lepraline acetate(LA)in the treatment of girls with central precocious puberty(CPP).Methods:72 CPP girls treated in the Department of Pediatrics of Huai'an First People's Hospital from February 2021 to August 2022 were included as subjects and divided into two groups:3-month LA group(n=34)and 1-month LA group(n=38).Both group girls were treated for 6 months.Serum hormone levels,body mass index(BMI),bone age/chronological age(BA/CA)and pelvic color ultrasound were detected at 0 and 6 months after treatment,and the changes of various indexes were compared before and after treatment.Results:1)There were no significant differences in baseline data between the two groups before treatment(P>0.05).2)After 6 months of treatment,BA/CA decreased,growth rate slowed down,and predicted adult height increased in both groups(P<0.05),but there were no significant differences between groups(P>0.05).3)After 6 months of treatment,there waere no significant differences in luteinizing hormone(LH)inhibition ratio between the 3 month and 1 month dosage groups(P>0.05).After treatment,the peak value of serum LH and FSH,estradiol level,uterine volume,bilateral ovarian volume,maximum follicle diameter and the number of follicles 4mm were significantly decreased in the two groups,but there were no significant differences between the two groups(P>0.05).4)There were no significant differences in the levels of thyroid hormone,fasting blood glucose and triglyceride between the two groups before and after treatment(P>0.05).Total cholesterol levels were increased after treatment(P<0.05),but there was no significant difference between groups(P>0.05).5)No serious adverse reactions occurred during the treatment of the two dosage forms of LA,but the 3-month dosage form of LA reduced the treatment cost and improved the treatment compliance.Conclusion:The short-term efficacy of 3-month LA in the treatment of CPP in girls is similar to that of 1-month LA.The 3-month dosage form LA is a safe,effective,and economical method for the treatment of CPP in girls.展开更多
目的 探讨单时相促性腺激素释放激素(gonadotropin-releasing hormone,GnRH)激发试验对不同体重指数(body mass index,BMI)女童中枢性性早熟(central precocious puberty,CPP)的诊断价值。方法 回顾性分析2017年1月—2023年8月在郑州大...目的 探讨单时相促性腺激素释放激素(gonadotropin-releasing hormone,GnRH)激发试验对不同体重指数(body mass index,BMI)女童中枢性性早熟(central precocious puberty,CPP)的诊断价值。方法 回顾性分析2017年1月—2023年8月在郑州大学第三附属医院就诊的7.5岁前出现乳房发育的760例女童数据。根据GnRH激发试验结果和临床表现综合诊断,分为CPP组(n=297)和非CPP组(n=463)。再根据体重指数(body mass index,BMI)分为正常体重组(n=540)、超重组(n=116)及肥胖组(n=104)。采用受试者操作特征曲线分析单时相GnRH激发试验对不同BMI女童CPP的诊断价值。结果 GnRH激发后30 min黄体生成素(luteinizing hormone,LH)/卵泡刺激素诊断CPP的曲线下面积为0.985,高于0、60、90 min LH/卵泡刺激素的曲线下面积(P<0.05)。30 min与60 minLH诊断价值相当(P>0.05)。30 min LH与BMI及BMI-Z值呈负相关(P<0.05)。30 min LH在正常体重、超重、肥胖女童中诊断CPP的曲线下面积分别为0.952、0.965、0.954 (P<0.05)。结论 30 min GnRH激发试验对不同BMI女童CPP均有较好的诊断价值,有望替代传统的GnRH激发试验,但应注意BMI对LH水平的影响。展开更多
基金funded by New Zealand dairy farmers through Dairy NZ Inc. and by the New Zealand Ministry of Business,Innovation and Employment (DRCX1302)support was kindly received from LIC and CRV
文摘Background Many phenotypes in animal breeding are derived from incomplete measures,especially if they are challenging or expensive to measure precisely.Examples include time-dependent traits such as reproductive status,or lifespan.Incomplete measures for these traits result in phenotypes that are subject to left-,interval-and rightcensoring,where phenotypes are only known to fall below an upper bound,between a lower and upper bound,or above a lower bound respectively.Here we compare three methods for deriving phenotypes from incomplete data using age at first elevation(>1 ng/mL)in blood plasma progesterone(AGEP4),which generally coincides with onset of puberty,as an example trait.Methods We produced AGEP4 phenotypes from three blood samples collected at about 30-day intervals from approximately 5,000 Holstein–Friesian or Holstein–Friesian×Jersey cross-bred dairy heifers managed in 54 seasonal-calving,pasture-based herds in New Zealand.We used these actual data to simulate 7 different visit scenarios,increasing the extent of censoring by disregarding data from one or two of the three visits.Three methods for deriving phenotypes from these data were explored:1)ordinal categorical variables which were analysed using categorical threshold analysis;2)continuous variables,with a penalty of 31 d assigned to right-censored phenotypes;and 3)continuous variables,sampled from within a lower and upper bound using a data augmentation approach.Results Credibility intervals for heritability estimations overlapped across all methods and visit scenarios,but estimated heritabilities tended to be higher when left censoring was reduced.For sires with at least 5 daughters,the correlations between estimated breeding values(EBVs)from our three-visit scenario and each reduced data scenario varied by method,ranging from 0.65 to 0.95.The estimated breed effects also varied by method,but breed differences were smaller as phenotype censoring increased.Conclusion Our results indicate that using some methods,phenotypes derived from one observation per offspring for a time-dependent trait such as AGEP4 may provide comparable sire rankings to three observations per offspring.This has implications for the design of large-scale phenotyping initiatives where animal breeders aim to estimate variance parameters and estimated breeding values(EBVs)for phenotypes that are challenging to measure or prohibitively expensive.
文摘Background: Hypothalamic hamartoma is a rare non-neoplastic lesion, typically identified in early childhood during investigations for precocious puberty and/or gelastic seizures. However, cases of diagnosis even earlier or during fetal development have been documented. Case Presentation: A newborn girl was diagnosed with hydrocephalus during pregnancy. An MRI revealed a large oval hypothalamic process, which suggested a hypothalamic hamartoma. At the age of 2, she experienced alternating crying and laughing seizures, followed by a decrease in visual acuity. Due to involvement of the optic pathways, surgery was not performed and she underwent antiepileptic medicines and gamma knife radiotherapy. At the age of 5 years and 3 months, she presented with breast development and laboratory tests confirmed central precocious puberty. Quarterly injections of GnRH agonists have since been administered with favorable results. Conclusion: Early-diagnosed hypothalamic hamartomas require close monitoring, by an experienced multidisciplinary, to promptly detect and treat potential complications, especially precocious puberty, and prevent any undesirable impact on final height.
基金Athanasios Tselebis,ORCID number: 0000-0002-2591-965XLina Zabuliene ,ORCID number:0000-0002-7889-0862+1 种基金Charalampos Milionis ,ORCID number:0000-0003-2442-3772Corresponding author:Ioannis Ilias,MD,PhD,Consultant Physician-Scientist,Department of Endocrinology,Elena Venizelou General and Maternity Hospital,2,Elena Venizelou Square,Athens GR-11521,Greece.iiliasmd@yahoo.com,ORCID number: 0000-0001-5718-7441.
文摘BACKGROUND Recent publications from several countries have reported that more young people(mainly girls)are experiencing precocious puberty(PP)/menarche during the coronavirus disease 2019 pandemic compared to the past.This variation is attributed to the stress of confinement,lack of exercise,obesity and disturbed sleep patterns.A common feature of the relevant papers,however,is the small number of reported cases of PP.Studies have shown that searches for diseases on the internet also reflect to some extent the epidemiology of these diseases.AIM To estimate,through internet searches for PP,any changes in the epidemiology of PP.METHODS We assessed in Google Trends searches for 21 PP-related terms in English internationally(which practically dwarf searches in other languages),in the years 2017-2021.Additionally,we assessed local searches for selected terms,in English and local languages,in countries where a rise in PP has been reported.Searches were collected in Relative Search Volumes format and analyzed using Kendall’s Tau test,with a statistical significance threshold of P<0.05.RESULTS Internationally,searches for three PP-related terms showed no noticeable change over the study period,while searches for eight terms showed a decrease.An increase was found over time in searches for nine PP-related terms.Of the 17 searches in English and local languages,in countries where a rise in PP has been reported,5 showed a significant increase over time.CONCLUSION Over the study period,more than half of the search terms showed little change or declined.The discrepancy between internet searches for PP and the reported increase in the literature is striking.It would be expected that a true increase in the incidence of PP would also be aptly reflected in Google trends.If our findings are valid,the literature may have been biased.The known secular trend of decreasing age of puberty may also have played a role.
文摘Background: Ovarian tumors in the girl child are sometimes revealed by the development of secondary sexual characteristics. The authors report the case of a five-year-old girl in whom the disease was revealed by early puberty. Case presentation: A five-year-old girl with an enlarged abdomen for about four months. The onset of pain and the sensation of a mass prompted the consultation. The development of secondary sexual characteristics (SSC) noted by the family had not been mentioned. The patient was classified as pubertal stage 2 according to the Tanner classification. An abdominal ultrasound and a CT scan showed a large left ovarian mass, an enlarged uterus for the patient’s age and a normal right ovary. The hormonal workup was not contributive. The treatment consisted only of a left salpingo-ovarectomy, without complementary chemotherapy. Anatomic pathological examination of the surgical specimen concluded to a juvenile tumor of the granulosa. The evolution was good with a beginning of regression of the HSC one month after the ovarectomy. Discussion: Granulosa tumors are sometimes secretory cancers, generally with a low potential for malignancy and therefore a very good prognosis. Surgery based on total adnexectomy is the first-line treatment. The large size of the tumor, the presence of ascites and capsular rupture are factors of poor prognosis, hence the importance of early diagnosis. Conclusion: Routine comprehensive physical examination should be de rigueur for abdominal masses in girls, especially in the context of various beliefs that may impede early referral to care.
基金Jiangsu Province Maternal and Child Health Care Project (No.FYX202213)。
文摘Objective:To observe the clinical efficacy of different dosage forms of lepraline acetate(LA)in the treatment of girls with central precocious puberty(CPP).Methods:72 CPP girls treated in the Department of Pediatrics of Huai'an First People's Hospital from February 2021 to August 2022 were included as subjects and divided into two groups:3-month LA group(n=34)and 1-month LA group(n=38).Both group girls were treated for 6 months.Serum hormone levels,body mass index(BMI),bone age/chronological age(BA/CA)and pelvic color ultrasound were detected at 0 and 6 months after treatment,and the changes of various indexes were compared before and after treatment.Results:1)There were no significant differences in baseline data between the two groups before treatment(P>0.05).2)After 6 months of treatment,BA/CA decreased,growth rate slowed down,and predicted adult height increased in both groups(P<0.05),but there were no significant differences between groups(P>0.05).3)After 6 months of treatment,there waere no significant differences in luteinizing hormone(LH)inhibition ratio between the 3 month and 1 month dosage groups(P>0.05).After treatment,the peak value of serum LH and FSH,estradiol level,uterine volume,bilateral ovarian volume,maximum follicle diameter and the number of follicles 4mm were significantly decreased in the two groups,but there were no significant differences between the two groups(P>0.05).4)There were no significant differences in the levels of thyroid hormone,fasting blood glucose and triglyceride between the two groups before and after treatment(P>0.05).Total cholesterol levels were increased after treatment(P<0.05),but there was no significant difference between groups(P>0.05).5)No serious adverse reactions occurred during the treatment of the two dosage forms of LA,but the 3-month dosage form of LA reduced the treatment cost and improved the treatment compliance.Conclusion:The short-term efficacy of 3-month LA in the treatment of CPP in girls is similar to that of 1-month LA.The 3-month dosage form LA is a safe,effective,and economical method for the treatment of CPP in girls.
文摘目的 探讨单时相促性腺激素释放激素(gonadotropin-releasing hormone,GnRH)激发试验对不同体重指数(body mass index,BMI)女童中枢性性早熟(central precocious puberty,CPP)的诊断价值。方法 回顾性分析2017年1月—2023年8月在郑州大学第三附属医院就诊的7.5岁前出现乳房发育的760例女童数据。根据GnRH激发试验结果和临床表现综合诊断,分为CPP组(n=297)和非CPP组(n=463)。再根据体重指数(body mass index,BMI)分为正常体重组(n=540)、超重组(n=116)及肥胖组(n=104)。采用受试者操作特征曲线分析单时相GnRH激发试验对不同BMI女童CPP的诊断价值。结果 GnRH激发后30 min黄体生成素(luteinizing hormone,LH)/卵泡刺激素诊断CPP的曲线下面积为0.985,高于0、60、90 min LH/卵泡刺激素的曲线下面积(P<0.05)。30 min与60 minLH诊断价值相当(P>0.05)。30 min LH与BMI及BMI-Z值呈负相关(P<0.05)。30 min LH在正常体重、超重、肥胖女童中诊断CPP的曲线下面积分别为0.952、0.965、0.954 (P<0.05)。结论 30 min GnRH激发试验对不同BMI女童CPP均有较好的诊断价值,有望替代传统的GnRH激发试验,但应注意BMI对LH水平的影响。
