The patient was a boy aged 1 year and 9 months who presented with 46,XY disorder of sex development (DSD), with severe undermasculinization of the external genitalia. Laboratory tests and ultrasound examinations showed normal functions of Leydig cells and Sertoli cells in the testes. Genetic testing revealed a novel pathogenic heterozygous variant, c.1186dupA (p.T396Nfs*17), in the PPP1R12A gene. Thirteen cases of PPP1R12A gene variants have been reported previously. These variants may cause isolated involvement of the genitourinary or neurological systems, or affect other systems/organs including the digestive tract, eyes, heart, etc. Patients with DSD typically present with a 46,XY karyotype and variable degrees of undermasculinization involving the external genitalia, gonads, and reproductive tract. This article reports a child with 46,XY DSD accompanied by growth retardation caused by a heterozygous variant in the PPP1R12A gene, which expands the clinical disease spectrum associated with PPP1R12A gene variants.
Humans ; Male ; Infant ; Disorder of Sex Development, 46,XY/etiology* ; Protein Phosphatase 1/genetics*

OBJECTIVE: To explore the clinical characteristics, diagnosis, and treatment methods of one patient with idiopathic multicentric Castleman disease (iMCD), in order to strengthen the understanding of this rare disease. METHODS: The clinical manifestations, diagnosis and treatment process, and prognosis of one patient with iMCD admitted to our hospital were retrospectively analyzed. RESULTS: The patient was a 45-year-old female with swollen bilateral orbit, edema of lower limbs, multiple serosal cavity effusion, thrombocytopenia, renal insufficiency, and multiple lymph node enlargement. Lymph node biopsy suggested mixed type of Castleman disease. Combined with pathology, imaging and laboratory examination, the patient was finally diagnosed with mixed type of iMCD. After six cycles of R-COP regimen chemotherapy, the patient achieved complete remission. CONCLUSIONS Castleman disease with renal and orbit involvement is rare in clinic and easy to be misdiagnosed. It should be distinguished from lymphoma. The patient has been treated with R-COP regimen, and obtained good short-term efficacy.
Humans ; Castleman Disease/diagnosis* ; Middle Aged ; Female ; Retrospective Studies ; Orbit/pathology* ; Kidney/pathology*

BACKGROUND: Non-invasive computed tomography angiography (CTA)-based fractional flow reserve (CT-FFR) could become a gatekeeper to invasive coronary angiography. Deep learning (DL)-based CT-FFR has shown promise when compared to invasive FFR. To evaluate the performance of a DL-based CT-FFR technique, DeepVessel FFR (DVFFR). METHODS: This retrospective study was designed for iScheMia Assessment based on a Retrospective, single-center Trial of CT-FFR (SMART). Patients suspected of stable coronary artery disease (CAD) and undergoing both CTA and invasive FFR examinations were consecutively selected from the Beijing Anzhen Hospital between January 1, 2016 to December 30, 2018. FFR obtained during invasive coronary angiography was used as the reference standard. DVFFR was calculated blindly using a DL-based CT-FFR approach that utilized the complete tree structure of the coronary arteries. RESULTS: Three hundred and thirty nine patients (60.5 ±10.0 years and 209 men) and 414 vessels with direct invasive FFR were included in the analysis. At per-vessel level, sensitivity, specificity, accuracy, positive predictive value (PPV) and negative predictive value (NPV) of DVFFR were 94.7%, 88.6%, 90.8%, 82.7%, and 96.7%, respectively. The area under the receiver operating characteristics curve (AUC) was 0.95 for DVFFR and 0.56 for CTA-based assessment with a significant difference (P < 0.0001). At patient level, sensitivity, specificity, accuracy, PPV and NPV of DVFFR were 93.8%, 88.0%, 90.3%, 83.0%, and 95.8%, respectively. The computation for DVFFR was fast with the average time of 22.5 ± 1.9 s. CONCLUSIONS The results demonstrate that DVFFR was able to evaluate lesion hemodynamic significance accurately and effectively with improved diagnostic performance over CTA alone. Coronary artery disease (CAD) is a critical disease in which coronary artery luminal narrowing may result in myocardial ischemia. Early and effective assessment of myocardial ischemia is essential for optimal treatment planning so as to improve the quality of life and reduce medical costs.

AIM To study the chemical constituents from Stelmatocrypton khasianum.(Benth.)Baill.and their in vitro anti-inflammatory activity and cytotoxic activity.METHODS Separation and purification were performed using thin layer chromatography,silica gel,semi-preparative HPLC and Sephadex LH-20,then the structures of obtained compounds were identified by physicochemical properties and spectral data.The in vitro anti-inflammatory activity was evaluated by RAW264.7 model,and the cytotoxic activity was determined by CCK-8 method.RESULTS Fifteen compounds were isolated and identified as 2α,3β,19α,23-tetrahydroxy-urs-12-en-28-oic acid-3-O-β-D-glucopyranosyl-28-O-β-D-glucopyranosyl ester(1),dalzienoside(2),benzyl-(6-O-α-L-rhanmopyranosyl)O-β-D-glucopyranoside(3),corchorusoside C(4),cyclo(Ala-Tyr)(5),thymidine(6),(4S,5S)-5-hydroxy-4-hexanolide(7),2-methylpyridin-3-ol(8),butyl isobutyl phthalate(9),bis-(2-ethylhexyl)terephthalate(10),p-hydroxybenzaldehyde(11),vanilic acid(12),salicylic acid(13),isovanilic acid(14),3-hydroxy-p-anisaldehyde(15).The IC50 values of compounds 1,2 and 4 for NO were(27.69±5.51),(25.82±3.58)and(23.35±7.09)μmol/L,respectively.The IC50 value of compound 1 on MCF-7 cells was(18.15±6.45)μmol/L.The IC50 values of compound 4 on MCF-7 and HCCC-9810 cells were(19.43±2.66)and(21.76±5.81)μmol/L,respectively.CONCLUSION Compounds 2-11 are isolated from S.khasianum for the first time.Compounds 1,2 and 4 exhibit good in vitro anti-inflammatory activity,and 1,4 have cytotoxic activity.

Objective:To understand the relationship between sleep duration and cardiovascular and metabolic comorbidities (CMM) in middle-aged and elderly people in China.Methods:This study was a prospective cohort study, based on the data of China Health and Retirement Tracing Survey (CHARLS) from 2011 to 2015, and included middle-aged and elderly people aged≥45 years in the cohort study. Age, gender, marital status, residence, education, smoking status, alcohol status, body mass index, history of diabetes, history of dyslipidemia, history of hypertension, history of stroke, history of heart disease, history of mental illness, depression scale score were collected. Multivariate logistic regression was used to analyze the association between daily sleep duration and the risk of CMM onset and to construct four models with stepwise adjusted covariates. A stratified analysis was established based on demographic factors, lifestyle factors, metabolic factors, cardiovascular and cerebrovascular factors, and psychological factors. Meanwhile, a subgroup analysis was established according to different combinations of cardiovascular and metabolic diseases to explore the association between sleep length and the risk of CMM in different populations.Results:A total of 297 (4.4%) of the 6 788 included participants experienced CMM. In the multivariate logistic regression, the RR value (95% CI) for the risk of CMM for>9 h was 1.99 (1.86-2.08) and 1.78 (1.64-1.92), respectively (all P<0.001). The stratified analysis showed that the risk of CMM incidence between sleep duration<7 h and>9 h was associated in people with different age, sex, residence, smoking status, drinking status, body mass index, hypertension, hypertension, diabetes, heart disease, stroke, dyslipidemia, and depression (all P<0.05). Subgroup analysis showed that sleep duration<7 h with both diabetes, heart disease and stroke had the highest risk of CMM ( RR=1.95, 95% CI: 1.65-2.14). Conclusion:In the middle-aged and elderly group in China, there is a U-shaped association between sleep duration and CMM, that is, insufficient or too long sleep duration throughout the day is related to the increased risk of CMM.

OBJECTIVE To explore the improvement effect and mechanism of salidroside on radiation-induced parotid gland injury in rats. METHODS Rats were randomly assigned into normal group， radiation group， salidroside low-dose （salidroside-L， 50 mg/kg） group， salidroside high-dose （salidroside-H， 100 mg/kg） group， and salidroside-H+inhibitor （100 mg/kg salidroside+0.1 µmol/kg H-89） group， with 10 rats in each group. Except for the normal group， rats in the other groups were subjected to radiation exposure to establish a model of radiation-induced parotid gland injury. Rats in each group were intraperitoneally injected with the corresponding drug or normal saline， once a day， for 40 consecutive days. After the last administration， the levels of reactive oxygen species （ROS）， cyclic adenosine monophosphate （cAMP）， superoxide dismutase （SOD）， and amylase in serum were detected； the pathological changes of parotid gland tissue were observed； the apoptosis rate of parotid gland tissue cells， the expression levels of B-cell lymphoma-2 （Bcl-2） and its associated X protein （Bax）， mRNA expression levels of interleukin-6 （IL- 6） and tumor necrosis factor-α （TNF-α）， the protein expression levels of type Ⅲ collagen （Col Ⅲ）， vasoactive intestinal peptide （VIP）， and the phosphorylation level of protein kinase A （PKA） in parotid gland tissue were determined. RESULTS Compared with normal group， the levels of ROS， amylase， apoptosis rate， Bax expression level， mRNA expression levels of IL-6 and TNF- α， and protein expression level of Col Ⅲ in the radiation group were significantly increased， while the levels of cAMP， SOD， Bcl-2 expression level， VIP protein expression level and PKA phosphorylation level were significantly decreased （P＜0.05）. Compared with radiation group， the above indicators in the salidroside-L group and salidroside-H group were significantly improved （P＜0.05）， and the improvement in the salidroside-H group was more significant （P＜0.05）； inhibitor H-89 significantly reversed the changes in the above indicators of the salidroside-H group （P＜0.05）. CONCLUSIONS Salidroside can effectively alleviate radiation-induced parotid gland injury in rats， and its mechanism may be related to the activation of the VIP-cAMP pathway.

Objective To investigate the association between baseline depression and the risk of type 2 diabetes mellitus(T2DM)in middle-aged and elderly people in Chengguan District of Lanzhou.Methods A total of 4471 residents who were followed up in Chengguan District,Lanzhou City from August 2014 to July 2016 in the 2011 REACTION study were selected as the research subjects.According to the 9-item patient health questionnaire(PHQ-9),they were divided into the non-depression group with a score of 0～4 points(ND,n=3827),the mild depression group with a score of 5～10 points(MD,n=546)and the moderate to severe depression group with a score of≥10 points(MSD,n=98).The general data and biochemical indicators of the three groups were compared.The correlation between depression status and glycolipid metabolism indicators was analyzed.The follow-up results of the three groups with different baseline glucose metabolism status populations were compared.Logistic regression was used to analyze the influencing factors of progression in different glucose metabolism populations.Results The married rate in the ND,MD and MSD groups decreased sequentially(P<0.05),while the rate of living alone and the PHQ-9 score increased(P<0.05).The female population,family history of DM,coronary heart disease,LDL-C and TC in the MD group were higher than those in the ND group(P<0.05),while the age,BMI,WHR,FPG and 2 hPG in the MD group were lower than those in the ND group(P<0.05).The family history of DM in the MSD group was higher than those in the ND group(P<0.05),drinking and LDL-C in the MSD group were higher than those in the MD group(P<0.05),the BMI was lower than that in the ND group(P<0.05).Spearman correlation analysis showed that the baseline PHQ-9 score was negatively correlated with FPG level(r=-0.039,P<0.05),and positively correlated with HDL-C and TC(r=0.049,0.031,P<0.05).There was no significant difference in the incidence of pre-DM and T2DM at the end of follow-up among the three groups with different baseline glucose metabolism(P>0.05).Logistic regression analysis showed that after adjusting for confounding factors,the risk of pre-DM and T2DM in normal glucose tolerance people with different depression status and the risk of T2DM in pre-DM patients were not increased.Conclusions Depressive state may not be the main factor affecting the occurrence of T2DM in middle-aged and elderly people in Chengguan District of Lanzhou.

Hypothermia is a clinical syndrome characterized by core body temperature<35℃,caused by significant heat loss from body surface in cold environment.As a systemic cold injury,it can be lethal if treatment is delayed.Emergent diagnosis and treatment of hypothermia are expected to improve the prognosis of patients.In 2005,the U.S.Army Research Institute of Environmental Medicine(USARIEM)issued guidelines for the prevention and management of cold injuries,but there has been no corresponding standard in China.Therefore,Emergency Branch of Chinese Medical Rescue Association,Emergency Medical Equipment Society of China Association of Medical Equipment,Integrated Rehabilitation Medical Branch of Chinese Medical Rescue Association,and Pre-Hospital Emergency Care Working Committee of Chinese Aging Well Association jointly developed the Chinese Expert Consensus on Emergent Treatment of Hypothermia(2025 edition).The consensus covers the pathophysiology,etiology and epidemiology,diagnosis and severity grading,prehospital treatment,and in-hospital treatment of hypothermia,including 15 recommendations in total,aiming to provide guidance for the relevant clinical rescue work.

Aim To investigate the effect of Huangqi injection(HI)and Huangqi oral solution(HO)on cisplatin-induced nephrotoxicity(CIN)based on un-targeted metabolomics technology and the underlying mechanisms.Methods Sprague Dawley(SD)rats were randomly divided into the blank group,cisplatin(CDDP)model group,HI treatment group,and HO treatment group,then the CIN model was built with low dose multiple intraperitoneal injections of CDDP.Pre-liminary evaluation of the renal protective efficacy of HI and HO was performed by measuring serum creatinine(Scr),blood urea nitrogen(BUN),and organ indi-ces.Further screening and identification of potential biomarkers(PBs)related to CIN and HI/HO pharma-cological effects were attained through metabolomics studies of renal tissues,and pathway enrichment analy-sis was conducted.Results HI and HO significantly restored the abnormal increase in renal function indica-tors and abnormal decrease in organ indices caused by CDDP,as well as significantly improved the abnormal renal metabolic profile induced by CDDP,indicating that both HI and HO had good alleviating effects on CIN.HI significantly reversed 47 out of 54 CIN related PBs,mainly involving metabolic pathways such as glycerophospholipid metabolism,tryptophan metabo-lism,pantothenate and CoA biosynthesis;HO signifi-cantly reversed 18 out of 54 CIN related PBs,mainly involving metabolic pathways such as taurine and hypo-taurine metabolism,ascorbate and aldarate metabo-lism,pentose and glucuronate interconversions.Con-clusions Both HI and HO have significant alleviating effects on CIN.In the short term,HI salleviating effect is superior to that of HO.Overall,the mechanisms by which both alleviate CIN are mainly related to regula-ting lipid metabolism,amino acid metabolism.

With the rapid development of generative artificial intelligence(GAI)technologies,their widespread application in academic research and writing is continuously expanding the boundaries of sci-entific inquiry.However,this trend has also raised a series of ethical and regulatory challenges,inclu-ding issues related to authorship,content authenticity,citation accuracy,and accountability.In light of the growing involvement of AI in generating academic content,establishing an open,controllable,and trustworthy ethical governance framework has become a key task for safeguarding research integrity and maintaining trust within the academic community.This expert consensus outlines ethical requirements across key stages of AI-assisted academic writing-including topic selection,data management,citation practices,and authorship attribution.It aims to clarify the boundaries and ethical obligations surrounding AI use in academic writing,ensuring that technological tools enhance efficiency without compromising in-tegrity.The goal is to provide guidance and institutional support for building a responsible and sustainable research ecosystem.