1.Assessing High-density Y-SNP Panels for Paternal Haplogroup Assignment in Forensic Practice
De-Qin ZHANG ; Chun-Nian WANG ; Lin-Lin LOU ; Meng NI ; Jing GAO ; Jiang HUANG ; Li JIANG
Progress in Biochemistry and Biophysics 2026;53(2):458-469
ObjectiveThe accuracy of Y-chromosome haplogroup assignment is crucial for tracing paternal lineage in male samples. With the advancement of high-throughput sequencing technologies, high-density Y-SNP genotyping from whole-genome or array-based data has become a standard method for determiningY-chromosome haplogroups. This study systematically evaluated the performance of 4 commonly used high-density SNP genotyping systems—namely, the Global Screening Array (GSA), Chinese Genotyping Array (CGA), Affymetrix array, and the 1240K capture panel—for haplogroup assignment. This work provides a reference for data comparison across different systems. MethodsWe extracted genotype data for the 4 Y-SNP panels from 30× whole-genome sequencing (WGS) data of 1 590 male samples from the 1000 Genomes Project. Additionally, GSA array genotype data from 384 relative pairs (spanning 1st- to 12th-degree relationships) from 109 Chinese Han families were collected. Haplogroup assignment was performed using Y-LineageTracker v1.3.0 software. We assessed the concordance and resolution of haplogroup assignments between the four Y-SNP panels and the WGS data. The consistency and resolution of haplogroup assignments were also evaluated for both the 1000 Genomes Project samples and the 109 family samples collected in this study. Furthermore, the impact of varying numbers of Y-SNPs on haplogroup assignment was examined. ResultsThe GSA and CGA panels demonstrated superior resolution and discrimination of haplogroup subclades compared with the other two panels. The haplogroup assignments from the GSA, CGA, and 1240K panels showed high concordance with WGS data, with consistency rates exceeding 88.70%, whereas the Affymetrix platform exhibited a significantly lower consistency rate of 61.89%. Specifically, the GSA and CGA panels consistently demonstrated superior performance compared with the other two panels in the assignment of haplogroups O-M175 and H-L901, achieving complete concordance (100%) for both haplogroups. In contrast, the Affymetrix panel erroneously assigned all individuals belonging to haplogroup O-M175 to haplogroup K2-M526. Furthermore, its accuracy for haplogroup H-L901 was exceedingly low, at merely 1.41%. This poor performance was characterized by the misassignment of 98.59% of H-L901 samples—specifically, 1.41% to J-M304 and a predominant 97.18% to F-M89. For haplogroup R-M207, all four panels exhibited uniformly high levels of consistency, with concordance values exceeding 94.00%. Notably, for haplogroup E-M96, the 1240K and Affymetrix panels outperformed the GSA and CGA panels in terms of concordance, representing the first instance in which these two panels surpassed the latter. Conversely, for haplogroups J-M304, Q-M242, and I-M170, all 4 panels showed relatively elevated misclassification rates, with the Affymetrix array demonstrating the poorest overall performance. None of the four panels showed any discordant haplogroup assignments among the familial relative pairs analyzed. A positive correlation was observed between the number of Y-SNPs (ranging from 1 000 to 10 000) and classification consistency; however, classification consistency plateaued when the number of Y-SNPs exceeded 10 000. Furthermore, a random sampling analysis conducted on the GSA and CGA panels demonstrated that the haplogroup misclassification rate exhibited negligible fluctuation across the Y-SNP range of 500 to 1 000. Conversely, a marked enhancement in classification consistency was observed as the number of markers increased from 1 000 to 5 000, ultimately reaching a plateau within the interval of 5 000 to 8 000 markers. ConclusionThese findings indicate that the GSA and CGA panels provide high resolution and concordance, delivering reliable Y-haplogroup assignment for forensic investigations.
2.Assessing High-density Y-SNP Panels for Paternal Haplogroup Assignment in Forensic Practice
De-Qin ZHANG ; Chun-Nian WANG ; Lin-Lin LOU ; Meng NI ; Jing GAO ; Jiang HUANG ; Li JIANG
Progress in Biochemistry and Biophysics 2026;53(2):458-469
ObjectiveThe accuracy of Y-chromosome haplogroup assignment is crucial for tracing paternal lineage in male samples. With the advancement of high-throughput sequencing technologies, high-density Y-SNP genotyping from whole-genome or array-based data has become a standard method for determiningY-chromosome haplogroups. This study systematically evaluated the performance of 4 commonly used high-density SNP genotyping systems—namely, the Global Screening Array (GSA), Chinese Genotyping Array (CGA), Affymetrix array, and the 1240K capture panel—for haplogroup assignment. This work provides a reference for data comparison across different systems. MethodsWe extracted genotype data for the 4 Y-SNP panels from 30× whole-genome sequencing (WGS) data of 1 590 male samples from the 1000 Genomes Project. Additionally, GSA array genotype data from 384 relative pairs (spanning 1st- to 12th-degree relationships) from 109 Chinese Han families were collected. Haplogroup assignment was performed using Y-LineageTracker v1.3.0 software. We assessed the concordance and resolution of haplogroup assignments between the four Y-SNP panels and the WGS data. The consistency and resolution of haplogroup assignments were also evaluated for both the 1000 Genomes Project samples and the 109 family samples collected in this study. Furthermore, the impact of varying numbers of Y-SNPs on haplogroup assignment was examined. ResultsThe GSA and CGA panels demonstrated superior resolution and discrimination of haplogroup subclades compared with the other two panels. The haplogroup assignments from the GSA, CGA, and 1240K panels showed high concordance with WGS data, with consistency rates exceeding 88.70%, whereas the Affymetrix platform exhibited a significantly lower consistency rate of 61.89%. Specifically, the GSA and CGA panels consistently demonstrated superior performance compared with the other two panels in the assignment of haplogroups O-M175 and H-L901, achieving complete concordance (100%) for both haplogroups. In contrast, the Affymetrix panel erroneously assigned all individuals belonging to haplogroup O-M175 to haplogroup K2-M526. Furthermore, its accuracy for haplogroup H-L901 was exceedingly low, at merely 1.41%. This poor performance was characterized by the misassignment of 98.59% of H-L901 samples—specifically, 1.41% to J-M304 and a predominant 97.18% to F-M89. For haplogroup R-M207, all four panels exhibited uniformly high levels of consistency, with concordance values exceeding 94.00%. Notably, for haplogroup E-M96, the 1240K and Affymetrix panels outperformed the GSA and CGA panels in terms of concordance, representing the first instance in which these two panels surpassed the latter. Conversely, for haplogroups J-M304, Q-M242, and I-M170, all 4 panels showed relatively elevated misclassification rates, with the Affymetrix array demonstrating the poorest overall performance. None of the four panels showed any discordant haplogroup assignments among the familial relative pairs analyzed. A positive correlation was observed between the number of Y-SNPs (ranging from 1 000 to 10 000) and classification consistency; however, classification consistency plateaued when the number of Y-SNPs exceeded 10 000. Furthermore, a random sampling analysis conducted on the GSA and CGA panels demonstrated that the haplogroup misclassification rate exhibited negligible fluctuation across the Y-SNP range of 500 to 1 000. Conversely, a marked enhancement in classification consistency was observed as the number of markers increased from 1 000 to 5 000, ultimately reaching a plateau within the interval of 5 000 to 8 000 markers. ConclusionThese findings indicate that the GSA and CGA panels provide high resolution and concordance, delivering reliable Y-haplogroup assignment for forensic investigations.
3.Results of summer mosquito surveillance in schools of Jing an District, Shanghai from 2019 to 2025
NI Xiaofen, DENG Haiping, SHEN Lei
Chinese Journal of School Health 2026;47(6):888-892
Objective:
To understand the mosquito infestation status in schools in Jing an District of Shanghai from 2019 to 2025, so as to provide a basis for mosquito control work in schools.
Methods:
Four schools of each school type (colleges and secondary specialized schools, primary and secondary schools, nurseries and kindergartens) were respectively selected from Jing an District as the survey sites by combination of stratified sampling and convenience sampling. Mosquito breeding sites surveys (including small stagnant water and medium and large static water) and adult mosquito monitoring were carried out in schools every August, from 2019 to 2025. The breeding sites surveys were investigated by visual inspection and spoon trapping methods, and the adult mosquito monitoring was investigated by the human baited trapping. Chi square test was used for inter group comparison.
Results:
A total of 970 small stagnant water were surveyed from 2019 to 2025, with the positive rate of 17.01% for mosquito breeding. The highest positive rate was in colleges and secondary specialized schools (25.07%). The top three positive breeding sites for mosquito were unused containers(27.46%), waste tires (16.67%), and bonsai and aquatic plants (16.52%). There were statistically significant differences in the positive rates for mosquito breeding among different years, school types and waterlogging types ( χ 2=122.70, 28.48 , 24.80, all P <0.01). A total of 640 medium and large static water were surveyed, and the positive rate for mosquito breeding was 7.34%. There was a statistically significant difference for the positive rate among different years ( χ 2= 50.23 , P <0.01). The highest positive rate for mosquito breeding was in colleges and secondary specialized schools (9.63%), and there was no statistically significant difference for the positive rate among different school types ( χ 2=4.41, P =0.11). From 2019 to 2025, a total of 390 mosquitoes were captured in the time period from 16:30 to 17:00, all of which were Aedes albopictus; the adult mosquito density in colleges and secondary specialized schools was the highest, being 2.38 mosquitoes/(0.5 h ·person). A total of 210 mosquitoes were captured in the time period from 19:00 to 19:30 during 2019-2025, among which Aedes albopictus accounted for 74.76% and Culex pipiens pallens accounted for 25.24%. The adult mosquito density in colleges and secondary specialized schools was the highest, being 1.15 mosquitoes/(0.5 h ·person). In colleges and secondary specialized schools, the area with the largest number of captured mosquitoes was around the teaching buildings and libraries(44.78%). In primary and secondary schools, as well as nurseries and kindergartens, the area with the largest number of captured mosquitoes was around the school gates and playgrounds( 49.44% , 53.60%), the difference in mosquito distribution in different regions among different types of schools was statistically significant ( χ 2=111.39, P <0.01).
Conclusions
The mosquito density in Jing an District schools is generally higher during summer. It is recommended that the school strengthen the management of mosquito breeding sites and the control of adult mosquitoes before the start of autumn semester, so as to prevent insect infestation of mosquitoes.
4.Progress of researches on toxoplasmosis control strategies based on the One Health concept
Huijun GAO ; Jing LI ; Pengyao LI ; Rui ZHUO ; Ze NI ; Bin ZHENG ; Shaohong LU
Chinese Journal of Schistosomiasis Control 2026;38(4):354-360
Toxoplasmosis, a zoonotic disease caused by the obligate intracellular parasite Toxoplasma gondii, is widely prevalent across the world. The life cycle of T. gondii involves definitive hosts (cats and felines), intermediate hosts (humans, livestock, and wild animals), and the environment (such as soil and water). The One Health concept brings together the health of humans, animals, and the environment, with aims to pursue the optimal health outcomes through coordinated management. Management of toxoplasmosis from a One Health perspective may provide key insights into formulation of interventions for toxoplasmosis control. This article reviews the complex biological characteristics and life cycle of T. gondii, as well as the importance of felines as definitive hosts in the transmission of toxoplasmosis, analyzes the epidemiology, ecological impact and economic burden of toxoplasmosis, and discusses the bottlenecks in diagnostic and monitoring systems, environmental management technologies, and One Health interdisciplinary collaboration. In addition, toxoplasmosis control strategies are proposed based on the One Health concept, covering public health interventions, management of animal sources, multi-sector collaboration, and development of novel vaccines. These strategies provide insights into interruption of toxoplasmosis transmission and maintenance of the global public health security.
5.Analysis on current status and influencing factors of ethical sensitivity among clinical nursing interns in the context of artificial intelligence
Yue LIN ; Jing WANG ; Kun LI ; Wen WANG ; Lei YANG ; Yang LI ; Mei HUANG ; Chunping NI
Chinese Medical Ethics 2026;39(8):1121-1128
ObjectiveTo investigate the current status of ethical sensitivity among clinical nursing interns in the context of artificial intelligence (AI) and analyze its influencing factors. MethodsAdopting mixed research methods and convenience sampling, a total of 237 nursing interns from a tertiary A hospital in Xi’an were selected as research subjects. Data were collected using a general information questionnaire and the Nursing Students’ Ethical Sensitivity Scale, and semi-structured interviews were conducted with 8 nursing interns. ResultsThe total score of ethical sensitivity among nursing interns was (33.98±6.32), which was at a moderate level. Multiple linear regression analysis revealed that academic degree (undergraduate: β=0.147, P<0.05; postgraduate: β=0.139, P<0.05), affinity for the nursing profession (β=0.118, P<0.05), whether they had taken nursing ethics courses (β=-0.124, P<0.05), and familiarity with artificial intelligence (β=-0.159,P<0.05) were influencing factors of ethical sensitivity among nursing interns. Four themes were extracted from semi-structured interviews, namely, the incomplete mastery of nursing ethics-related knowledge among nursing interns, weakened ethical sensitivity in the AI teaching scenario of nursing interns, insufficient professional identity affecting the development of nursing interns’ ethical sensitivity, and technological dependence leading to the lack of humanistic care among nursing interns. ConclusionEthical sensitivity of nursing interns represents a moderate level, primarily influenced by educational background, degree of fondness for the nursing profession, learning experience of nursing ethics courses, and familiarity with AI. Nursing educators and clinical administrators urgently need to establish a sustainable school-hospital collaborative model of nursing ethics education, attach importance to the cultivation of ethical awareness and value guidance for nursing interns, and strengthen the intensity and depth of nursing ethics education among nursing interns, thereby improving their level of ethical sensitivity in the context of AI.
6.Development of a new paradigm for precision diagnosis and treatment in traditional Chinese medicine
Jingnian NI ; Mingqing WEI ; Ting LI ; Jing SHI ; Wei XIAO ; Jing CHENG ; Bin CONG ; Boli ZHANG ; Jinzhou TIAN
Journal of Beijing University of Traditional Chinese Medicine 2025;48(1):43-47
The development of traditional Chinese medicine (TCM) diagnosis and treatment has undergone multiple paradigms, evolving from sporadic experiential practices to systematic approaches in syndrome differentiation and treatment and further integration of disease and syndrome frameworks. TCM is a vital component of the medical system, valued alongside Western medicine. Treatment based on syndrome differentiation embodies both personalized treatment and holistic approaches; however, the inconsistency and lack of stability in syndrome differentiation limit clinical efficacy. The existing integration of diseases and syndromes primarily relies on patchwork and embedded systems, where the full advantages of synergy between Chinese and Western medicine are not fully realized. Recently, driven by the development of diagnosis and treatment concepts and advances in analytical technology, Western medicine has been rapidly transforming from a traditional biological model to a precision medicine model. TCM faces a similar need to progress beyond traditional syndrome differentiation and disease-syndrome integration toward a more precise diagnosis and treatment paradigm. Unlike the micro-level precision trend of Western medicine, precision diagnosis and treatment in TCM is primarily reflected in data-driven applications that incorporate information at various levels, including precise syndrome differentiation, medication, disease management, and efficacy evaluation. The current priority is to accelerate the development of TCM precision diagnosis and treatment technology platforms and advance discipline construction in this area.
7.Effect of serum IGF2 and LRFN5 levels on neurological rehabilitation in patients with ischemic stroke
Guangbao NI ; Qiong HU ; Yuanhong XU ; Haicheng FU ; Yiqin LI ; Jing XU
International Journal of Laboratory Medicine 2025;46(14):1747-1752
Objective To investigate the effects of serum insulin-like growth factor 2(IGF2),leucine-rich repeat and fibronectin type Ⅲ domain containing 5(LRFN5)levels on neurological rehabilitation in patients with ischemic stroke(IS).Methods A total of 103 patients with IS who were treated in Shiyan Taihe Hospi-tal from October 2022 to March 2024 were selected as the study group.According to the modified Rankin scale(mRS)score,they were divided into 46 cases in the poor rehabilitation group and 57 cases in the good rehabili-tation group.Another 61 healthy individuals who underwent physical examinations in the hospital during the same period were selected as the control group.The levels of serum IGF2 and LRFN5 were detected by en-zyme-linked immunosorbent assay.Pearson and Spearman correlation analyses were used to analyze the corre-lations between the levels of serum IGF2 and LRFN5 in the poor rehabilitation group and the related indica-tors of neurological function.Logistic regression was used to analyze the influencing factors of poor neurologi-cal rehabilitation in patients with IS,and the receiver operating characteristic curve was plotted to analyze the diagnostic value of serum IGF2 and LRFN5 levels for poor neurological rehabilitation in patients with IS.Re-sults The serum IGF2 level in the study group was significantly lower than that in the control group,and the LRFN5 level was significantly higher than that in the control group.The difference was statistically significant(P<0.05).The scores of the National Institutes of Health Stroke Scale(NIHSS)at admission,the 90-day mRS score,the maximum diameter of the cerebral infarction lesion and the LRFN5 level in the poor rehabilita-tion group were significantly higher than those in the good rehabilitation group,and the IGF2 level was signifi-cantly lower than that in the good rehabilitation group.The differences were statistically significant(P<0.05).The level of serum IGF2 was negatively correlated with the NIHSS score at admission,the 90-day mRS score and the maximum diameter of cerebral infarction lesions.The level of LRFN5 was positively correlated with the NIHSS score at admission,the 90-day mRS score and the maximum diameter of cerebral infarction lesions.The level of IGF2 was negatively correlated with the level of LRFN5(P<0.05).The results of Logis-tic regression analysis showed that the 90-day mRS score and LRFN5 level were risk factors for poor neuro-logical function rehabilitation in patients with IS,and the IGF2 level was a protective factor for poor neurologi-cal function rehabilitation in patients with IS(P<0.05).The area under the curve(AUC)of the combined diagnosis of serum IGF2 and LRFN5 was 0.943(95%CI:0.902-0.984),which was significantly higher than AUC of the diagnosis by a single indicator(Zcombined with the two-IGF2=2.039,P=0.041;Zcombined with the two-LRFN5=2.139,P=0.032).Conclusion The IS patients have a significant reduction in serum IGF2 level and a signifi-cant increase in serum LRFN5 level,which are closely related to their neurological function recovery.The combination of IGF2 and LRFN5 has a certain diagnostic value for neurological function recovery in IS pa-tients.
8.Comparison of clinical characteristics between primary bilateral macronodular adrenal hyperplasia and adrenal cortisol-producing adenoma
Bing LI ; Ming-Xiu YANG ; Huai-Jin XU ; Jing-Xuan WANG ; Qing-Zheng WU ; Ya-Jing WANG ; Yi-Jun LI ; Kang CHEN ; Yu CHENG ; Qi NI ; Ya-Qi YIN ; Li ZANG ; Qing-Hua GUO ; Jian-Ming BA ; Wei-Jun GU ; Jing-Tao DOU ; Zhao-Hui LYU ; Yi-Ming MU
Medical Journal of Chinese People's Liberation Army 2025;50(7):779-785
Objective To comparatively analyze the clinical characteristics of primary bilateral macronodular adrenal hyperplasia(PBMAH)and adrenal cortisol-producing Adenoma(CPA),and enhance the understanding of two diseases.Methods The clinical data of 85 PBMAH patients(PBMAH group)and 195 CPA patients(CPA group)diagnosed at Department of Endocrinology,the First Medical Center of Chinese PLA General Hospital,from September 2014 to August 2024 were retrospectively analyzed.The demographic characteristics,comorbidities,biochemical indicators,adrenocorticotropic hormone-cortisol(ACTH-F)levels,and adrenal imaging features and treatment conditions were compared between the two groups.Results(1)General characteristics:Compared with CPA group,PBMAH group had older age at diagnosis and a higher proportion of male patients.(2)Clinical characteristics:Compared with CPA group,PBMAH group had a longer disease duration,a higher proportion of subclinical Cushing's syndrome(CS),and a higher proportion of hypertension,impaired glucose tolerance/diabetes,bone mass reduction or osteoporosis,with higher serum potassium levels,and the differences were statistically significant(P<0.01).(3)Hormone levels:Both PBMAH and CPA groups showed ACTH-F rhythm disorder,significantly increased cortisol levels and suppressed ACTH.Compared with PBMAH group,CPA group had stronger autonomous cortisol secretion ability,manifested by increased midnight serum cortisol(F0:00),16:00 serum cortisol(F16:00),24-hour urinary free cortisol(24 h UFC)levels and lower 8:00 serum ACTH(ACTH8:00)and 16:00 serum ACTH(ACTH16:00)(P<0.01).After low-dose dexamethasone suppression test(LDDST),CPA group showed lower suppression rates of ACTH and cortisol,and higher proportions of paradoxical elevation in serum cortisol and 24 h UFC compared with PBMAH(P<0.01).Conclusions PBMAH has a longer disease course and higher proportions of comorbid metabolic disorders than CPA,mostly manifested as subclinical Cushing's syndrome.CPA has stronger autonomous cortisol secretion ability,with cortisol less likely to be suppressed after LDDST and more obvious paradoxical elevation of cortisol and 24 h UFC.
9.Characteristics analysis of multimodal metabolic disorders in subclinical Cushing's syndrome patients with different cortisol levels
Ya-Jing WANG ; Bing LI ; Huai-Jin XU ; Qi NI ; Ya-Qi YIN ; Yi-Jun LI ; Li ZANG ; Yu CHENG ; Kang CHEN ; Qing-Hua GUO ; Jian-Ming BA ; Wei-Jun GU ; Jing-Tao DOU ; Zhao-Hui LYU ; Yi-Ming MU
Medical Journal of Chinese People's Liberation Army 2025;50(7):793-799
Objective To characterize multimodal metabolic disorders in subclinical Cushing's syndrome(SCS)patients with different cortisol levels,providing a reference for clinical diagnosis and treatment.Methods A retrospective analysis was conducted on the clinical data of 165 SCS patients diagnosed at the First Medical Center of Chinese PLA General Hospital due to adrenal masses from January 2014 to October 2024.Using the serum cortisol levels after the midnight 1 mg dexamethasone suppression test(1 mg DST)as the cut-off point,SCS patients were divided into high-level group(1 mg DST-F>138 nmol/L,n=96)and low-level group(50 nmol/L<1 mg DST-F≤138 nmol/L,n=69).The differences in age,gender,body mass index(BMI),blood pressure,glucolipid metabolism indices,electrolytes,hormone levels,and imaging features of adrenal adenoma(such as CT values)were compared between the two groups.Multivariate linear regression was used to analyze the correlation between CT values and metabolic indices.Results Compared with low-level group,patients in high-level group were younger(54.0±11.3 vs.57.7±10.3,P=0.034),while there were no statistically significant differences in gender ratio or BMI between the two groups(P>0.05).Both groups exhibited decreased adrenocorticotropic hormone(ACTH)levels and disrupted circadian rhythm.Compared with low-level group,high-level group showed significantly higher F0:00 levels[250.00(170.07,422.53)nmol/L vs.110.00(82.74,133.90)nmol/L]and 24-hour urinary free cortisol(24 h UFC)[568.40(377.80,875.45)nmol/24 h vs.369.40(265.40,494.69)nmol/24 h](P<0.001),with no significant differences in serum F8:00,or 1 mg DST ACTH0:00 levels(P>0.05).Except for the fasting C-peptide level in the high-level group being higher than that in low-level group[(2.88±1.01)ng/ml vs.(2.46±0.78)ng/ml,P=0.024],there were no significant differences in blood pressure,blood lipids,glycated hemoglobin(HbA1c),fasting blood glucose,fasting insulin,serum electrolytes,uric acid,and other indices between the two groups(P>0.05).The CT value of adrenal adenoma during contrast-enhanced scanning was higher in high-level group[80.00(17.80,93.00)Hu vs.52.00(35.50,75.00)Hu,P=0.006]compared with low-level group.Multivariate linear regression analysis revealed that diastolic blood pressure was positively correlated with CT values of adrenal adenomas in both plain scanning(β=0.49,95%CI 0.09-0.90)and contrast-enhanced scanning(β=2.08,95%CI 0.76-3.39),while triglyceride levels were negatively correlated with plain scanning CT values(β=-5.77,95%CI-10.88--0.66).Conclusion Patients with SCS at different cortisol levels differ in age,fasting C-peptide levels,and CT values.CT values may serve as potential imaging markers to assess metabolic risk in SCS patients.
10.Clinical analysis of 10 cases with primary pigmented nodular adrenocortical disease and literature review
Yi-Jun LI ; Bing LI ; Qi NI ; Ya-Qi YIN ; Hui-Xin ZHOU ; Ya-Jing WANG ; Kang CHEN ; Wei-Jun GU ; Zhao-Hui LYU
Medical Journal of Chinese People's Liberation Army 2025;50(7):808-816
Objective To summarize the clinical characteristics of primary pigmented nodular adrenocortical disease(PPNAD)and provide a reference for its clinical diagnosis and treatment.Methods A retrospective analysis was conducted on the clinical characteristics,laboratory tests,imaging examinations,treatment plans,and follow-up data of 10 PPNAD patients diagnosed and treated at the First Medical Center of Chinese PLA General Hospital from January 2008 to October 2024.Databases including CNKI,Wanfang Data Knowledge Service Platform,and PubMed were searched,and the clinical characteristics of 120 PPNAD patients reported in the literature were summarized in combination with literature reviews.Results The age at diagnosis of the 10 PPNAD patients ranged from 15 to 55 years,with a median age of onset of 21.5 years.Seven patients had the protein kinase A regulatory subunit 1 alpha(PRKAR1A)gene mutations,meeting the diagnosis criteria for Carney syndrome.One patient presented with hypertension only,while the remaining 9 patients showed typical Cushing's syndrome manifestations such as thin skin and moon face,among whom 5 experienced stagnation of height growth.In 7 patients,the adrenocorticotropic hormone(ACTH)levels were<2.2 pmol/L,with the disrupted circadian rhythm of cortisol,and the cortisol levels at midnight ranged from 243.24 to 679.83 pmol/L.None of the patients showed suppression in the low-dose dexamethasone suppression test,and 8 patients had an increase in urinary free cortisol(UFC)after dexamethasone suppression.Adrenal CT showed that 9 patients presented with unilateral adrenal nodules accompanied by contralateral thickening or bilateral adrenal nodular thickening.All 10 patients underwent initial unilateral adrenalectomy,and during follow-up,4 patients experienced symptom recurrence and underwent contralateral adrenalectomy.Most of the 120 patients reported domestically and internationally showed typical Cushing's syndrome manifestations.Surgical resection of the adrenal gland was the main treatment modality.Gene mutations were predominantly in PRKAR1A,with a few in PDE11A and PRKACA.Conclusions PPNAD is more likely to occur in adolescents.Patients with typical Cushing's syndrome manifestations should undergo screening.Imaging manifestations are atypical,and a definitive diagnosis depends on pathological and genetic diagnoses.Bilateral adrenalectomy combined with long-term postoperative hormone replacement therapy is the standard treatment protocol.Patients who undergo early unilateral adrenalectomy require long-term follow-up,with contralateral adrenalectomy performed when necessary.


Result Analysis
Print
Save
E-mail