Objective:To explore the association between triglyceride glucose index (TyG)- waist to height ratio (WHtR)(TyG-WHtR) and cognitive impairment in middle-aged and elderly population.Methods:A cohort database was constructed using the data from the China Health and Retirement Longitudinal Study, with 8 946 participants in 2011 and 2015 as the baseline population. Cox proportional hazards regression models were used to estimate the association between TyG-WHtR levels at baseline and the risk of cognitive impairment in middle-aged and elderly population. The analysis was stratified by age and gender, respectively.Results:A total of 8 946 participants were included, with an average follow-up of 7.08 person-years and incidence density of cognitive impairment for 21.15 per 1 000 person-years. Compared with the Q1 level of TyG-WHtR, its Q3 and Q4 level increased the risk of cognitive impairment by 32% ( HR=1.32, 95% CI: 1.09-1.60) and 47% ( HR=1.47, 95% CI: 1.14-1.91), respectively. Trend test showed that the risk of cognitive impairment increased with the increase of TyG-WHtR level, and there was a dose-response relationship ( P=0.001). Stratified analysis showed that in the population aged 45-59 years, compared with the Q1 level of TyG-WHtR, its Q3 level increased the risk of cognitive impairment by 34% ( HR=1.34, 95% CI: 1.02-1.78). In the population aged 60 years and above, compared with the Q1 level, its Q3 and Q4 level increased the risk of cognitive impairment by 31% ( HR=1.31, 95% CI: 1.01-1.72) and 63% ( HR=1.63, 95% CI: 1.15-2.31), respectively. In the male group, there was no significant association between TyG-WHtR level and the risk of cognitive impairment ( P>0.05). In the female group, compared with the Q1 level of TyG-WHtR, its Q4 level increased the risk of cognitive impairment by 76% ( HR=1.76, 95% CI: 1.26-2.46). Conclusions:Middle-aged and elderly population with a higher TyG-WHtR level may increase the risk of cognitive impairment, and there were age and sex differences. Early cardiovascular health management and scientific and reasonable weight management are of great significance to preventing cognitive impairment.

Objective:To investigate the efficacy and safety of oral testosterone therapy in individuals diagnosed with androgen insensitivity syndrome (AIS).Methods:A self-controlled study design was utilized, focusing on individuals with AIS who were genetically diagnosed at the Department of Endocrinology, Genetics, and Metabolism of Beijing Children′s Hospital between 2009 and 2021. These patients underwent treatment involving the administration of testosterone. The primary observed indexes include the measurement of penis length, which should meet the minimal surgical standard (penis length≥2.5 cm) or greater than or equal to -2.5 s (lower limit of normal). Secondary observed indexes include penile length standard deviation score (PL-SDS), an increase in penis longitude (ΔPL), medication dosage, the course of therapy, and safety indicators, among others. There were 4 courses of treatment. After each course, patients were evaluated to determine whether termination of treatment was appropriate. Patients who exhibited inadequate post-treatment penile length growth were advised to continue with further treatment. The statistical methodology included t-test, and a Wilcoxon rank sum test to describe efficacy and safety. The patients were followed up until 2023. Results:The study comprised a total of 51 individuals with AIS, comprising 33 males and 18 females (gender of registered permanent residence). Among these patients, 10 were diagnosed with complete androgen insensitivity syndrome (CAIS) and 41 were diagnosed with partial androgen insensitive syndrome (PAIS). There were 2 children with CAIS were diagnosed by doctors and prescribed testosterone undecanoate, but the children did not really take medicine.The penile length of CAIS patients could not be measured (penile length<0.5 cm) before and after treatment. For PAIS patients, baseline penile length and PL-SDS were (2.3±0.6) cm and -3.7±1.3, respectively. The measurements for penile length and PL-SDS after each treatment course were recorded as follows: (2.7±0.8), (2.8±0.6), (2.6±0.4), (2.6±0.4) cm and -2.8±1.6, 2.5±1.6, 2.9±1.2, -3.2±0.9, respectively. Both penile length and PL-SDS interventions showed statistically significant gains when compared to the baseline performance of the 4 courses ( t=4.05、3.56、2.55、2.23 and 3.88、3.50、2.50、2.19, all P<0.05). Before treatment, 13 PAIS patients (32%) reached 2.5 cm and seven (17%) reached greater than or equal to -2.5 s. Following the initial, subsequent, third, and fourth therapeutic interventions, 18 cases (44%), 24 cases (59%), 25 cases (61%), and 26 cases (63%) reached 2.5 cm, respectively. Additionally, A total of 12 cases (29%), 15 cases (37%), 20 cases (49%), and 21 cases (51%), respectively, were found to reach greater than or equal to -2.5 s. The study involved the longitudinal monitoring of patients with the highest recorded age being 13.7 years. The weight, height, body mass index, bone age/age, cholesterol, hemoglobin and so on were all within the normal range and the difference were not statistically significant (all P>0.05). All 49 patients were no abnormalities in blood electrolyte, liver and kidney function and thyroid function and no changes in precocious puberty, pubic hair growth, aggressive behavior, vulvar skin darkening, diarrhea or other conditions. Conclusions:Testosterone undecanote in children with CAIS was no effective. The initial course of treatment for patients with PAIS demonstrates observable enhancements in penile length and PL-SDS. For patients with inadequate penile length growth, continued treatment in subsequent courses (such as the second, third, and fourth courses) is recommended toenhance outcomes gradually. Testosterone undecanoate was safe and effective for the majority of individuals with PAIS patients, with few adverse effects and good treatment tolerance.

BACKGROUND: There is limited data to comprehensively evaluate the epidemiological characteristics of multiple myeloma (MM) in China; therefore, this study determined the characteristics of the disease burden of MM at national and provincial levels in China. METHODS: The burden of MM, including incidence, mortality, prevalence, and disability-adjusted life years (DALYs), with a 95% uncertainty interval (UI), was determined in China following the general analytical strategy used in the Global Burden of Disease, Injuries, and Risk Factors Study 2019. The trends in the burden of MM from 1990 to 2019 were also evaluated. RESULTS: There were an estimated 347.45 thousand DALYs with an age-standardized DALY rate of 17.05 (95% UI, 12.31-20.77) per 100,000 in 2019. The estimated number of incident case and deaths of MM were 18,793 and 13,421, with age-standardized incidence and mortality rates of 0.93 (95% UI, 0.67-1.15) and 0.67 (95% UI, 0.50-0.82) per 100,000, respectively. The age-specific DALY rates per 100,000 increased to more than 10.00 in the 40 to 44 years age group reaching a peak (93.82) in the 70 to 74 years age group. Males had a higher burden than females, with approximately 1.5- to 2.0-fold sex difference in age-specific DALY rates in all age groups. From 1990 to 2019, the DALYs of MM increased 134%, from 148,479 in 1990 to 347,453 in 2019. CONCLUSION The burden of MM has doubled over the last three decades, which highlights the need to establish effective disease prevention and control strategies at both the national and provincial levels.
Humans ; Male ; Female ; Adult ; Aged ; Global Burden of Disease ; Quality-Adjusted Life Years ; Multiple Myeloma/epidemiology* ; Global Health ; Incidence ; Prevalence ; Risk Factors ; China/epidemiology*

Objective:To investigate the clinical value of dynamic detection of lymphocyte subsets and blood cell counts in management of patients with lupus nephritis (LN).Methods:The clinical data of 65 patients with primary LN admitted in Affiliated Hospital of Qingdao University from January 2015 to April 2021 were retrospectively analyzed. According to the stage of disease progression and medications used,LN patients were classified into primary active phase,post-induction therapy phase,and maintenance therapy phase. The changes in lymphocyte subsets were monitored,and the relationship of lymphocyte subsets and blood cell count ratios with lupus activity and infection events was evaluated.Results:The decrease of CD4 +T lymphocyte and NK cell counts were negatively correlated with the activity of systemic lupus erythematosus (SLE)( r=-0.67,-0.33, P<0.01),while CD8 +T lymphocyte,B cell counts,neutrophil/lymphocyte ratio (NLR),platelet/lymphocyte ratio (PLR),and monocyte/lymphocyte ratio (MLR) were positively correlated with the SLE activity( r=0.38,0.26,0.34,0.26,0.29, P<0.05). The area under ROC curve (AUC) of CD4 +T lymphocyte count in predicting the occurrence of infection in LN patients was the highest (0.89); taking 247.50 cell/μl as cutoff value,the sensitivity and specificity were 81.25% and 87.50%,respectively. The combination of CD4 +T lymphocyte with CRP increased the predicting value for the occurrence of infection. Conclusion:Dynamic detection of blood lymphocyte subsets and blood cell counts can reflect SLE activity and the occurrence of infection in LN patients. Among these indicators the CD4 +T lymphocyte has the highest predictive value for the occurrence of infection,and the combination of the CD4 +T lymphocyte count with CRP level can further improve the predicting value.

With the progressive aging of the population and the attendant increase in oral anticoagulants (OAC) use, studies have shown that the risk of intracerebral hemorrhage (ICH) in patients receiving OAC treatment is 7-10 times higher than that in patients not receiving OAC treatment. Moreover, compared to general ICH patients, patients with oral anticoagulant-associated intracerebral hemorrhage (OAC-ICH) exhibit larger ICH-volumes, have higher mortality, and importantly have a greater frequency of hematoma expansion (HE). Hence, aggressive and specific medical management to reverse anticoagulation irrespective of vitamin K antagonists (VKA) or new oral anticoagulants (NOAC) used is essential to reduce HE rates and thereby to potentially influence clinical outcomes. This paper aims to compare and analyze the history and latest progress of reversal scheme in different OAC, so as to provide a theoretical basis for patients with OAC-ICH to pick a more reasonable reversal scheme.

Objective:To explore the clinical significance of event-related potential P300 in the diagnosis and treatment of cognitive function in patients with chronic insomnia combined with anxiety and depression.Methods:Sixty patients with chronic insomnia complicated with anxiety and depression treated in Wuhan First Hospital from October 2020 to March 2021 were selected as the observation group, and 60 healthy volunteers were selected as the control group in the same period.Hamilton anxiety scale (HAMA) and Hamilton depression scale (HAMD) were used to evaluate the anxiety and depression status of patients.Mini mental state examination (MMSE) and Montreal cognitive assessment scale (MoCA) were used to evaluate the cognitive function of the subjects.All subjects were tested for P300 event-related potential, and the latency and amplitude of P300 event-related potential were recorded.SPSS 25.0 software was used for statistical analysis.Independent sample t-test was used for comparison between groups.Pearson correlation analysis was used to analyze the correlation between cognitive function and P300 event-related potential. Results:The scores of HAMA ((16.65±5.10), (9.30±4.42)) and HAMD ((18.07±3.97), (8.48±3.21)) in the observation group were higher than those in the control group ( t=8.438, 14.545, both P<0.05), and the MoCA score (22.35±4.25) was lower than that(25.65±2.29) in the control group ( t=-5.291, P<0.05). In the eight dimensions of MoCA, the scores of visual space and executive ability ((3.38±1.46), (4.63±0.69)), naming ((2.37±0.78), (2.65±0.48)), language ((2.17±0.96), (2.53±0.81)) and delayed recall ((2.58±1.45), (4.17±0.85))in the observation group were lower than those in the control group ( t=-5.991, -2.394, -2.259, -7.292, all P<0.05). Compared with the control group, the latencies of P300 (N1, N2, P3) in the observation group were significantly prolonged ( t=3.281, 4.342, 4.492, all P<0.01). The latencies of P300 (N1, N2, P3) were positively correlated with HAMD score ( r=0.242, 0.301, 0.311, all P<0.05). The latencies of P300 (N2, P3) were positively correlated with HAMA score ( r=0.205, 0.207, both P<0.05). The latencies of P300 (N2, P3) were negatively correlated with the delayed recall score of MoCA ( r=-0.197, -0.236, both P<0.05). Conclusion:There are different degrees of cognitive impairment in patients with chronic insomnia combined with anxiety and depression.P300 in patients with chronic insomnia combined with anxiety and depression shows prolonged latency.P300 latency is related to depression, anxiety and cognition in patients with chronic insomnia combined with anxiety and depression.Event-related potential P300 may be used as a neurophysiological objective evaluation tool for cognitive impairment in patients with chronic insomnia combined with anxiety and depression.

Objective:To explore the association between sleep duration and cognitive impairment in older adults in China.Methods:The data was from 2018 Chinese Longitudinal Healthy Longevity Survey (CLHLS). According to the Chinese version of Mini-mental State Examination (CMMSE), 7 111 subjects aged 65 and above were divided into cognitive impaired group and cognitive intact group. Multiple logistic regression analysis was conducted to investigate the association between sleep duration and the risk of cognitive impairment after adjusting the potential confounding factors.Result:The score of cognitive function showed an inverted U-shape distribution with sleep duration. After adjusting for demographic, socioeconomic factors, lifestyle and health status, the OR were 1.21(95% CI: 0.90-1.64) and 1.41(95% CI: 1.06-1.86) in groups that sleep 8 h and ≥9 h per day respectively, compared with sleep 7 h group. Trend test showed that the risk of cognitive impairment in the elderly increased with the extension of sleep duration, and there was a dose-response relationship (trend P=0.017), while no association was observed between short sleep duration (<7 h) and cognitive function. Conclusion:Longer sleep duration was found to be associated with higher risk of cognitive impairment in the Chinese aged 65 years and older.

Objective:To explore the clinical and genetic characteristics of Noonan syndrome in children.Methods:The clinical characteristics,genetic analysis and follow-up data of 20 children diagnosed with Noonan syndrome who were admitted to Department of Endocrinology, Genetics and Metabolism, Beijing Children′s Hospital, Capital Medical University from March 2016 to December 2020 were retrospectively analyzed.Results:Among 20 children with Noonan syndrome, 13 were males and 7 were females. The age at diagnosis was 5.9 years (1.1 years to 12.2 years). The most common clinical complaints were delayed height growth, followed by hypospadias or cryptorchidism in 2 cases, and special facial appearance in 1 case. Physical examination revealed 12 cases of Noonan syndrome with facial features, 9 cases with cryptorchidism and hypospadias, 10 cases with abnormal cardiac structure, and 10 cases with mental retardation; Twelve patients were detected with PTPN11 variations, 4 patients carried SOS2 variations, 2 cases were confirmed with variations in SHOC2 and SOS1. Six children received recombinant human growth hormone treatment, and their height increased by 4.0 (2.5-6.0) cm to varying degrees at 9 months. No adverse events occurred.Conclusions:Male Noonan syndrome is more frequently found with external genitalia. In addition to the high frequency of PTPN11 variation, the frequency of gene variation in SOS2 gene is higher than previously reported. All of the SOS2 variations are de novo. The syndrome phenotype profiles could vary with the admitted clinical departments. To understand the full picture of the syndrome, it is necessary to collect medical information from different departments.

Objective: Molecular genetics and clinical phenotypic characteristics of 5 alpha reductase deficiency were analyzed. Methods: The genetic results and clinical features classied as Prader grade of external genitalia of 86 children with SRD5A2 mutation seen from 2007 to 2017 at Department of Endocrinology of Beijing Children′s Hospital were analyzed, and the mutation differences in different were compared regions according to the literatures. Results: Among the 86 children, 15 had were homozygous mutations, accounting for 17%, and 71 cases of compound heterozygous mutations accounted for 83%. Totally 172 alleles mutations in this series. The mutation was mainly located on exon 1 and exon 4, in which the mutation frequency of exon 1 was 23.8% (41/172), and the frequency of exon 4 mutation was 55.8% (96/172). A total of 19 mutation types of the SRD5A2 gene in this group were detected, of which 5 were new mutations (p.A228F, p.E57D, p.V124D, p.A117D, p.E197K); 65 patients had p.R227Q mutation, accounting for 76%, while 31 had p.Q6* mutation, accounting for 36%. Other rare types such as p.R246W, p.R103* and so on were also seen in the present study, there was no significant difference between north China and south China (P>0.05). The clinical phenotypes of p.R227Q variation varied, mainly in Prader 3-4, accounting for 82%, while (Prader 0-1) were less, accounting only 2%. The variation of p.Q6* was mainly manifested in Prader 3, accounting for 50%. p.R246Q mainly presented Prader 3. The variation of p.G203S appeared to have Prader 2 and Prader 4-5, accounting for 20% and 73% respectively. There was no significant difference in clinical phenotype corresponding to each protein type (P>0.05) . Conclusion Among the 86 children have identified 19 SRD5A2 mutation types, p.R227Q is a hotspot mutation in Chinese. Variations at different types may have different clinical phenotypes, while the same variations may have different clinical features. There was no significance different in the variation types between the north and the south.

Objective To explore the prenatal ultrasound image features and clinical significance of fetal ductus venosus abormalities . Methods Fifteen fetuses with ductus venosus abormalities diagnosed by prenatal ultrasonography at Peking University T hird Hospital were retrospective review . T he prenatal findings ,umbilical shunting type ,perinatal outcomes ,and autopsy reports were analyzed . Results Fourteen fetuses were found with absence of ductus venosus . In 6 fetuses the umbilical vein connected to the portal vein ,5 fetuses the umbilical vein connected to the inferior vena cava and 3 fetuses the umbilical vein connected to the right atrium . T he remaining 1 fetus was found obliteration of ductus venosus . Absence of ductus venous showed no normal ductus venous and the umbilical vein almost always drained directly into portal vein ,inferior vena cava or right atrium . Obliteration of ductus venous showed normal ductus venous was replaced by a tiny echogenic string without blood flow . T hree cases had intracardiac and extracardiac abnormalities ; 4 cases had extracardiac abnormalities only ; 8 of these ,ductus venosus abormality were isolated . T wo cases had trisomy 21 syndrome . Four patients underwent legal termination of pregnancy ; 2 were intrauterine fetal death ; and 8 carried to term wit normal outcome ; the remaining one underwent operation due to extracardiac abnormality and postoperative course was uneventful . Conclusions Prenatal ultrasound can be used to diagnose fetal ductus venosus abormalities . Hemodynamic depends on umbilical venous drainage site and diameter . T he prognosis for this group of anomalies depends on the chromosomal abnormalities and additional findings . Chromosome and ultrasonic monitoring are suggested for following pregnancy .