1.The predictive value of peripheral blood NLR combined with serum trimethylamine oxide on in-hospital mortality events in patients with acute myocardial infarction and cardiogenic shock upon admission
Zhenli LUO ; Lisha MAO ; Mei KANG ; Gong ZHANG ; Yanbo SUN ; Fei JIA ; Yijuan DONG
Journal of Chinese Physician 2024;26(9):1379-1384
Objective:To explore the predictive value of peripheral blood neutrophil to lymphocyte ratio (NLR) and serum trimethylamine oxide (TMAO) on in-hospital mortality events in patients with acute myocardial infarction complicated by cardiogenic shock (AMICS) upon admission.Methods:A retrospective collection of medical records of 103 AMICS patients admitted to the Shanxi Yingkang Life General Hospital from January 2018 to June 2023 was conducted. The patients were divided into a survival group ( n=78) and a death group ( n=25) based on whether they experienced in-hospital mortality events. Two groups of peripheral blood NLR, serum TMAO, baseline data, and other laboratory indicators were compared. A logistic regression model was used to analyze the risk factors for in-hospital mortality in AMICS patients and a prediction model was constructed. We established receiver operating characteristic (ROC) curves to evaluate the predictive efficacy of peripheral blood NLR, serum TMAO, peripheral blood NLR+ serum TMAO, and predictive model indicators for in-hospital mortality events in AMICS patients. Results:The peripheral blood NLR and serum TMAO levels in the death group were significantly higher than those in the survival group (all P<0.05). The age of the death group was higher than that of the survival group, and the proportion of hypertension, alanine aminotransferase, creatinine, random blood glucose, proportion of patients who did not receive emergency percutaneous coronary intervention (PCI) treatment, peak cardiac troponin I, B-type natriuretic peptide, Gensini score of coronary artery disease, and C-reactive protein were all higher than those of the survival group. Systolic blood pressure and platelet count were lower than those of the survival group, heart rate and erythrocyte sedimentation rate were faster than those of the survival group, and the pre hospital time was longer than that of the survival group. The differences were statistically significant (all P<0.05). The results of binary logistic regression analysis showed that after adjusting for confounding factors such as age, male proportion, body mass index, proportion of old myocardial infarction, proportion of hypertension, and proportion of PCI history, advanced age, long pre hospital time, failure to receive emergency PCI, elevated peripheral blood NLR, and elevated serum TMAO were independent risk factors for in-hospital mortality in AMICS patients ( P<0.05). The predictive model was obtained as 0.734×age+ 0.277×pre hospital time+ 2.263×failure to receive emergency PCI+ 0.549×peripheral blood NLR+ 0.608×serum TMAO-26.923. The ROC curve results showed that the area under the curve (AUC) values of peripheral blood NLR, serum TMAO, peripheral blood NLR+ serum TMAO, and predictive model indicators for predicting in-hospital mortality events in AMICS patients were 0.744, 0.781, 0.825, and 0.921, respectively. When the optimal cutoff value was taken, the sensitivities were 0.880, 0.520, 0.680, and 0.880, and the specificities were 0.526, 0.923, 0.872, and 0.821, respectively. Conclusions:Advanced age, long pre hospital duration, failure to undergo emergency PCI, elevated peripheral blood NLR, and elevated serum TMAO are independent risk factors for in-hospital mortality in AMICS patients. Peripheral blood NLR, serum TMAO, peripheral blood NLR+ serum TMAO, and prediction models all have certain predictive value for in-hospital mortality events in AMICS patients. Among them, the sensitivity and specificity of the prediction models are high, and the efficacy is good.
2.Study on Down-regulation of Interleukin-1β Secretion by Inhibiting ABCC1/MRP1 Transporter
Yuan-Yuan CHEN ; Pei-Ting YING ; Wen-Wen WENG ; Mei-Xin FANG ; Jiang LI ; Ze-Bin LUO ; Ming JIA ; Xiao-Ping GUO ; Ling-Yan ZHANG ; Xiao-Jun XU ; Yong-Min TANG
Journal of Experimental Hematology 2024;32(3):911-919
Objective:To screen interleukin(IL)-1β secretion-related membrane transporters by macrophage experiment in vitro and conventional knockout mice.Methods:THP-1 cell line was differentiated to obtain human THP-1-derived macrophages,and the primary macrophages were obtained from human peripheral blood.FVB wild-type mice with the same sex and age were used as the controls of MRP1 knockout mice.The macrophages in abdominal cavity and bone marrow of mice were cultivated.The cells were treated with ABCC1/MRP1,ABCG2/BCRP,ABCB1/P-gp,OATP1B1,and MATE transporter inhibitors,then stimulated by lipopolysaccharide and adenosine triphosphate.The secretion level of IL-iβ was detected by ELISA,Western blot,and immunofluorescence.Results:After inhibiting ABCC1/MRP1 transporter,the secretion of IL-1β decreased significantly,while inhibition of the other 4 transporters had no effect.In animal experiment,the level of IL-1 β secreted by macrophages in bone marrow of MRP1 knockout mice was significantly lower than control group(P<0.05).Conclusion:ABCC1/MRP1 transporter is a newly discovered IL-1β secretion pathway,which is expected to become a new target for solving clinical problems such as cytokine release syndrome.
3.Correlation between Combined Urinary Metal Exposure and Grip Strength under Three Statistical Models: A Cross-sectional Study in Rural Guangxi
Jian Yu LIANG ; Hui Jia RONG ; Xiu Xue WANG ; Sheng Jian CAI ; Dong Li QIN ; Mei Qiu LIU ; Xu TANG ; Ting Xiao MO ; Fei Yan WEI ; Xia Yin LIN ; Xiang Shen HUANG ; Yu Ting LUO ; Yu Ruo GOU ; Jing Jie CAO ; Wu Chu HUANG ; Fu Yu LU ; Jian QIN ; Yong Zhi ZHANG
Biomedical and Environmental Sciences 2024;37(1):3-18
Objective This study aimed to investigate the potential relationship between urinary metals copper (Cu), arsenic (As), strontium (Sr), barium (Ba), iron (Fe), lead (Pb) and manganese (Mn) and grip strength. Methods We used linear regression models, quantile g-computation and Bayesian kernel machine regression (BKMR) to assess the relationship between metals and grip strength.Results In the multimetal linear regression, Cu (β=-2.119), As (β=-1.318), Sr (β=-2.480), Ba (β=0.781), Fe (β= 1.130) and Mn (β=-0.404) were significantly correlated with grip strength (P < 0.05). The results of the quantile g-computation showed that the risk of occurrence of grip strength reduction was -1.007 (95% confidence interval:-1.362, -0.652; P < 0.001) when each quartile of the mixture of the seven metals was increased. Bayesian kernel function regression model analysis showed that mixtures of the seven metals had a negative overall effect on grip strength, with Cu, As and Sr being negatively associated with grip strength levels. In the total population, potential interactions were observed between As and Mn and between Cu and Mn (Pinteractions of 0.003 and 0.018, respectively).Conclusion In summary, this study suggests that combined exposure to metal mixtures is negatively associated with grip strength. Cu, Sr and As were negatively correlated with grip strength levels, and there were potential interactions between As and Mn and between Cu and Mn.
4.Value of Contrast-enhanced Ultrasound in Sentinel Lymph Node after Primary Breast Cancer Resection
Qing-mei MA ; Jia LUO ; Jia-ping LI ; Cai-xin HUANG ; Lai-na WEI ; Ying LIN ; Nan SHAO ; Yan-ling ZHENG
Journal of Sun Yat-sen University(Medical Sciences) 2023;44(4):663-667
ObjectiveTo investigate the value of percutaneous and intravenous contrast-enhanced ultrasound(P-Ⅳ-CEUS) in sentinel lymph nodes(SLNs) after resection of early-stage primary breast cancer. MethodsA retrospective analysis was done on the clinical and imaging data of 42 early breast cancer patients. Following primary tumor resection, all these patients underwent reoperation in our hospital. SLNs were examined by preoperative P-Ⅳ-CEUS and intraoperative sentinel lymph node biopsy(SLNB) was performed by using Methylene blue as a tracer. Then we analyzed the detection and false-negative rate in CEUS and SLNB respectively. By using the surgical pathological results as the gold standard, the diagnostic efficacy of CEUS for SLNs was explored. ResultsThe detection rate and false negative rate of SLNs in percutaneous contrast-enhanced ultrasound (P-CEUS) were 92.9% (39/42) and 7.1% (3/42), respectively. The detection rate in methylene blue staining was 100% (41/41) and one patient underwent neoadjuvant therapy due to biopsy-confirmed metastasis. The sensitivity, specificity, positive predictive value, negative predictive value and accuracy of P-Ⅳ-CEUS were 66.7% (2/3), 100% (37/37), 100% (2/2), 97.3% (36/37) and 97.4% (38/39), respectively. ConclusionsP-Ⅳ-CEUS after resection of early-stage primary breast cancer can accurately detect SLNs and characterize their status, which is a reliable clinical basis for reducing invasive SLNB.
5.Incidence and prognosis of olfactory and gustatory dysfunctions related to infection of SARS-CoV-2 Omicron strain: a national multi-center survey of 35 566 population.
Meng Fan LIU ; Rui Xia MA ; Xian Bao CAO ; Hua ZHANG ; Shui Hong ZHOU ; Wei Hong JIANG ; Yan JIANG ; Jing Wu SUN ; Qin Tai YANG ; Xue Zhong LI ; Ya Nan SUN ; Li SHI ; Min WANG ; Xi Cheng SONG ; Fu Quan CHEN ; Xiao Shu ZHANG ; Hong Quan WEI ; Shao Qing YU ; Dong Dong ZHU ; Luo BA ; Zhi Wei CAO ; Xu Ping XIAO ; Xin WEI ; Zhi Hong LIN ; Feng Hong CHEN ; Chun Guang SHAN ; Guang Ke WANG ; Jing YE ; Shen Hong QU ; Chang Qing ZHAO ; Zhen Lin WANG ; Hua Bin LI ; Feng LIU ; Xiao Bo CUI ; Sheng Nan YE ; Zheng LIU ; Yu XU ; Xiao CAI ; Wei HANG ; Ru Xin ZHANG ; Yu Lin ZHAO ; Guo Dong YU ; Guang Gang SHI ; Mei Ping LU ; Yang SHEN ; Yu Tong ZHAO ; Jia Hong PEI ; Shao Bing XIE ; Long Gang YU ; Ye Hai LIU ; Shao wei GU ; Yu Cheng YANG ; Lei CHENG ; Jian Feng LIU
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2023;58(6):579-588
Objective: This cross-sectional investigation aimed to determine the incidence, clinical characteristics, prognosis, and related risk factors of olfactory and gustatory dysfunctions related to infection with the SARS-CoV-2 Omicron strain in mainland China. Methods: Data of patients with SARS-CoV-2 from December 28, 2022, to February 21, 2023, were collected through online and offline questionnaires from 45 tertiary hospitals and one center for disease control and prevention in mainland China. The questionnaire included demographic information, previous health history, smoking and alcohol drinking, SARS-CoV-2 vaccination, olfactory and gustatory function before and after infection, other symptoms after infection, as well as the duration and improvement of olfactory and gustatory dysfunction. The self-reported olfactory and gustatory functions of patients were evaluated using the Olfactory VAS scale and Gustatory VAS scale. Results: A total of 35 566 valid questionnaires were obtained, revealing a high incidence of olfactory and taste dysfunctions related to infection with the SARS-CoV-2 Omicron strain (67.75%). Females(χ2=367.013, P<0.001) and young people(χ2=120.210, P<0.001) were more likely to develop these dysfunctions. Gender(OR=1.564, 95%CI: 1.487-1.645), SARS-CoV-2 vaccination status (OR=1.334, 95%CI: 1.164-1.530), oral health status (OR=0.881, 95%CI: 0.839-0.926), smoking history (OR=1.152, 95%CI=1.080-1.229), and drinking history (OR=0.854, 95%CI: 0.785-0.928) were correlated with the occurrence of olfactory and taste dysfunctions related to SARS-CoV-2(above P<0.001). 44.62% (4 391/9 840) of the patients who had not recovered their sense of smell and taste also suffered from nasal congestion, runny nose, and 32.62% (3 210/9 840) suffered from dry mouth and sore throat. The improvement of olfactory and taste functions was correlated with the persistence of accompanying symptoms(χ2=10.873, P=0.001). The average score of olfactory and taste VAS scale was 8.41 and 8.51 respectively before SARS-CoV-2 infection, but decreased to3.69 and 4.29 respectively after SARS-CoV-2 infection, and recovered to 5.83and 6.55 respectively at the time of the survey. The median duration of olfactory and gustatory dysfunctions was 15 days and 12 days, respectively, with 0.5% (121/24 096) of patients experiencing these dysfunctions for more than 28 days. The overall self-reported improvement rate of smell and taste dysfunctions was 59.16% (14 256/24 096). Gender(OR=0.893, 95%CI: 0.839-0.951), SARS-CoV-2 vaccination status (OR=1.334, 95%CI: 1.164-1.530), history of head and facial trauma(OR=1.180, 95%CI: 1.036-1.344, P=0.013), nose (OR=1.104, 95%CI: 1.042-1.171, P=0.001) and oral (OR=1.162, 95%CI: 1.096-1.233) health status, smoking history(OR=0.765, 95%CI: 0.709-0.825), and the persistence of accompanying symptoms (OR=0.359, 95%CI: 0.332-0.388) were correlated with the recovery of olfactory and taste dysfunctions related to SARS-CoV-2 (above P<0.001 except for the indicated values). Conclusion: The incidence of olfactory and taste dysfunctions related to infection with the SARS-CoV-2 Omicron strain is high in mainland China, with females and young people more likely to develop these dysfunctions. Active and effective intervention measures may be required for cases that persist for a long time. The recovery of olfactory and taste functions is influenced by several factors, including gender, SARS-CoV-2 vaccination status, history of head and facial trauma, nasal and oral health status, smoking history, and persistence of accompanying symptoms.
Female
;
Humans
;
Adolescent
;
SARS-CoV-2
;
Smell
;
COVID-19/complications*
;
Cross-Sectional Studies
;
COVID-19 Vaccines
;
Incidence
;
Olfaction Disorders/etiology*
;
Taste Disorders/etiology*
;
Prognosis
6.Comparison on the efficacy of Chinese-made novel-designed mechanical-locked and elastic self-locked transcatheter edge-to-edge repair system in the treatment of patients with functional mitral regurgitation.
Da ZHU ; Shou Zheng WANG ; Zhi Ling LUO ; Jia Hua PAN ; Ke YANG ; Chun Mei XIE ; Yong Yan TANG ; Hong Bo YANG ; Mi Er MA ; Jian Bin GAO ; Xiang Bin PAN
Chinese Journal of Cardiology 2023;51(8):832-837
Objective: To evaluate and compare the short-term efficacy of domestic mechanical-locked (Clip2Edge) and elastic self-locked (ValveClip) transcranial mitral valve edge-to-edge interventional repair (TEER) devices in the treatment of functional mitral regurgitant valves. Methods: In this retrospective non-randomized comparative study, patients underwent TEER procedure in Fuwai Yunnan Cardiovascular Disease Hospital from May 2022 to April 2023 for heart failure combined with moderate to severe or severe functional mitral valve were divided into Clip2Edge and ValveClip groups based on the TEER system used. Baseline, perioperative, and postoperative 30 d follow-up data were collected and compared between the two groups. The primary outcome was the success rate on the 30 d post operation, while secondary outcomes included immediate postoperative technical success rate and the incidence of all-cause mortality on the 30 d post operation, readmission rate of acute heart failure, cerebral infarction, severe bleeding, and other serious adverse events rates. Results: A total of 60 patients were enrolled, 34 patients were in the Clip2Edge group and 26 in the ValveClip group, mean age was (63.8±9.3) years, and 24 patients (40%) were female. There were no significant differences in baseline data of age, cardiac function, comorbidities, mitral regurgitation 4+(19(73%) vs. 29(85%)), the end-diastolic volume of left ventricle ((220.8±91.2) ml vs. (210.8±71.7) ml) between the two groups (all P>0.05). The technical success rate immediately after the procedure was 100%. There were no readmission of acute heart failure, death, cerebral infarction, severe bleeding, and other serious adverse events up to the 30 d follow-up. Device success rate was similar between the ValveClip group (24 cases (100%)) and the Clip2Edge group (27 cases (96%)) (P>0.05). Conclusion: Both types of novel domestic TEER devices are safe and feasible in treating patients with functional mitral regurgitation.
Humans
;
Female
;
Middle Aged
;
Aged
;
Male
;
Mitral Valve Insufficiency/etiology*
;
Retrospective Studies
;
East Asian People
;
Heart Valve Prosthesis Implantation
;
Treatment Outcome
;
China
;
Heart Failure/etiology*
;
Cardiac Catheterization
7.Comparison on the efficacy of Chinese-made novel-designed mechanical-locked and elastic self-locked transcatheter edge-to-edge repair system in the treatment of patients with functional mitral regurgitation.
Da ZHU ; Shou Zheng WANG ; Zhi Ling LUO ; Jia Hua PAN ; Ke YANG ; Chun Mei XIE ; Yong Yan TANG ; Hong Bo YANG ; Mi Er MA ; Jian Bin GAO ; Xiang Bin PAN
Chinese Journal of Cardiology 2023;51(8):832-837
Objective: To evaluate and compare the short-term efficacy of domestic mechanical-locked (Clip2Edge) and elastic self-locked (ValveClip) transcranial mitral valve edge-to-edge interventional repair (TEER) devices in the treatment of functional mitral regurgitant valves. Methods: In this retrospective non-randomized comparative study, patients underwent TEER procedure in Fuwai Yunnan Cardiovascular Disease Hospital from May 2022 to April 2023 for heart failure combined with moderate to severe or severe functional mitral valve were divided into Clip2Edge and ValveClip groups based on the TEER system used. Baseline, perioperative, and postoperative 30 d follow-up data were collected and compared between the two groups. The primary outcome was the success rate on the 30 d post operation, while secondary outcomes included immediate postoperative technical success rate and the incidence of all-cause mortality on the 30 d post operation, readmission rate of acute heart failure, cerebral infarction, severe bleeding, and other serious adverse events rates. Results: A total of 60 patients were enrolled, 34 patients were in the Clip2Edge group and 26 in the ValveClip group, mean age was (63.8±9.3) years, and 24 patients (40%) were female. There were no significant differences in baseline data of age, cardiac function, comorbidities, mitral regurgitation 4+(19(73%) vs. 29(85%)), the end-diastolic volume of left ventricle ((220.8±91.2) ml vs. (210.8±71.7) ml) between the two groups (all P>0.05). The technical success rate immediately after the procedure was 100%. There were no readmission of acute heart failure, death, cerebral infarction, severe bleeding, and other serious adverse events up to the 30 d follow-up. Device success rate was similar between the ValveClip group (24 cases (100%)) and the Clip2Edge group (27 cases (96%)) (P>0.05). Conclusion: Both types of novel domestic TEER devices are safe and feasible in treating patients with functional mitral regurgitation.
Humans
;
Female
;
Middle Aged
;
Aged
;
Male
;
Mitral Valve Insufficiency/etiology*
;
Retrospective Studies
;
East Asian People
;
Heart Valve Prosthesis Implantation
;
Treatment Outcome
;
China
;
Heart Failure/etiology*
;
Cardiac Catheterization
8.Systemic lupus erythematosus associated macrophage activation syndrome with neuropsychiatric symptoms: A report of 2 cases.
Zhi Jun LUO ; Jia Jia WU ; You SONG ; Chun Li MEI ; Rong DU
Journal of Peking University(Health Sciences) 2023;55(6):1111-1117
Systemic lupus erythematosus (SLE) associated macrophage activation syndrome (MAS) is clinically severe, with a high mortality rate and rare neuropsychiatric symptoms. In the course of diagnosis and treatment, it is necessary to actively determine whether the neuropsychiatric symptoms in patients are caused by neuropsychiatric systemic lupus erythematosus (NPSLE) or macrophage activation syndrome. This paper retrospectively analyzed the clinical data of 2 cases of SLE associated MAS with neuropsychiatric lesions, Case 1: A 30-year-old female had obvious alopecia in 2019, accompanied by emaciation, fatigue and dry mouth. In March 2021, she felt weak legs and fell down, followed by fever and chills without obvious causes. After completing relevant examinations, she was diagnosed with SLE and given symptomatic treatments such as hormones and anti-infection, but the patient still had fever. The relevant examinations showed moderate anemia, elevated ferritin, elevated triglycerides, decreased NK cell activity, and a perforin positivity rate of 4.27%, which led to the diagnosis of "pre-hemophagocytic syndrome (HPS)". In May 2021, the patient showed mental trance and babble, and was diagnosed with "SLE-associated MAS"after completing relevant examinations. After treatment with methylprednisolone, anti-infection and psychotropic drugs, the patient's temperature was normal and mental symptoms improved. Case 2: A 30-year-old female patient developed butterfly erythema on both sides of the nose on her face and several erythema on her neck in June 2019, accompanied by alopecia, oral ulcers, and fever. She was diagnosed with "SLE" after completing relevant examinations, and her condition was relieved after treatment with methylprednisolone and human immunoglobulin. In October 2019, the patient showed apathy, no lethargy, and fever again, accompanied by dizziness and vomiting. The relevant examination indicated moderate anemia, decreased NK cell activity, elevated triglycerides, and elevated ferritin. The patient was considered to be diagnosed with "SLE, NPSLE, and SLE-associated MAS". After treatment with hormones, human immunoglobulin, anti-infection, rituximab (Mabthera), the patient's condition improved and was discharged from the hospital. After discharge, the patient regularly took methylprednisolone tablets (Medrol), and her psychiatric symptoms were still intermittent. In November 2019, she developed symptoms of fever, mania, and delirium, and later turned to an apathetic state, and was given methylprednisolone intravenous drip and olanzapine tablets (Zyprexa) orally. After the mental symptoms improved, she was treated with rituximab (Mabthera). Later, due to repeated infections, she was replaced with Belizumab (Benlysta), and she was recovered from her psychiatric anomalies in March 2021. Through the analysis of clinical symptoms, imaging examination, laboratory examination, treatment course and effect, it is speculated that the neuropsychiatric symptoms of case 1 are more likely to be caused by MAS, and that of case 2 is more likely to be caused by SLE. At present, there is no direct laboratory basis for the identification of the two neuropsychiatric symptoms. The etiology of neuropsychiatric symptoms can be determined by clinical manifestations, imaging manifestations, cerebrospinal fluid detection, and the patient's response to treatment. Early diagnosis is of great significance for guiding clinical treatment, monitoring the condition and judging the prognosis. The good prognosis of the two cases in this paper is closely related to the early diagnosis, treatment and intervention of the disease.
Humans
;
Female
;
Adult
;
Rituximab/therapeutic use*
;
Macrophage Activation Syndrome/etiology*
;
Retrospective Studies
;
Lupus Erythematosus, Systemic/drug therapy*
;
Methylprednisolone/therapeutic use*
;
Lupus Vasculitis, Central Nervous System
;
Fever/drug therapy*
;
Erythema/drug therapy*
;
Hormones/therapeutic use*
;
Anemia
;
Alopecia/drug therapy*
;
Triglycerides/therapeutic use*
;
Ferritins/therapeutic use*
9.Summary of the best evidence for sleep disorders management in children with autism spectrum disorder
Feifei SHI ; Jia CHEN ; Dongqing ZHANG ; Liping NING ; Ying LUO ; Juan LI ; Lijun CUI ; Mei HE
Chinese Journal of Modern Nursing 2023;29(31):4276-4283
Objective:To summarize and sort out the best evidence for sleep disorders management in children with autism spectrum disorder.Methods:Literatures related to sleep disorders management in children with autism spectrum disorder were systematically retrieved on UpToDate, BMJ Best Practice, National Guidelines Clearinghouse, Registered Nurses' Association of Ontario, Scottish Intercollegiate Guidelines Network, National Institute for Health and Clinical Excellence, Guidelines International Network, World Health Organization website, Medlive, Joanna Briggs Institute evidence-based healthcare center database, Web of Science, Cochrane Library, PubMed, Embase, CINAHL, PsychInfo, China Biology Medicine disc, Wanfang Database, CNKI, VIP, Association for Science in Autism Treatment website, Autism Society website, National Autism Society website and other domestic and foreign databases and websites. Literature types included guidelines, systematic review/Meta-analysis, evidence summary, clinical decision making and expert consensus. The search deadline was from the establishment of the databases to November 30, 2022. Two researchers trained in systematic evidence-based knowledge evaluated literature quality and extracted evidence.Results:A total of 14 literatures were included, including 1 clinical decision, 4 guidelines, 7 expert consensus and 2 systematic reviews. A total of 32 pieces of evidence were formed from 8 aspects, including screening, assessment, sleep planning, treatment goals, intervention, follow-up, caregiver support and team management of children with autism spectrum disorder.Conclusions:This study summarizes and forms the best evidence on the management of sleep disorders in children with autism spectrum disorder, and provides an evidence-based basis for the management of sleep disorders in them.
10.Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development.
Hu LIN ; Hao YANG ; Jun Fen FU ; Jin Na YUAN ; Ke HUANG ; Wei WU ; Guan Ping DONG ; Hong Juan TIAN ; De Hua WU ; Da Xing TANG ; Ding Wen WU ; Li Ying SUN ; Ya Lei PI ; Li Jun LIU ; Li Ping SHI ; Wei GU ; Lu Gang HUANG ; Yi Hua WANG ; Lin Qi CHEN ; Hong Ying LI ; Yang YU ; Hai Yan WEI ; Xin Ran CHENG ; Xiao Ou SHAN ; Yu LIU ; Xu XU ; Shu LIU ; Xiao Ping LUO ; Yan Feng XIAO ; Yu YANG ; Gui Mei LI ; Mei FENG ; Xiu Qi MA ; Dao Xiang PAN ; Jia Yan TANG ; Rui Min CHEN ; Mireguli MAIMAITI ; De Yun LIU ; Xin Hai CUI ; Zhe SU ; Zhi Qiao DONG ; Li ZOU ; Yan Ling LIU ; Jin WU ; Kun Xia LI ; Yuan LI
Chinese Journal of Pediatrics 2022;60(5):435-441
Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics*
;
Child
;
China/epidemiology*
;
Cryptorchidism/genetics*
;
Disorders of Sex Development/genetics*
;
Female
;
Genital Diseases, Male
;
Genotype
;
Humans
;
Hypospadias/genetics*
;
Male
;
Membrane Proteins/genetics*
;
Penis/abnormalities*
;
Phenotype
;
Retrospective Studies
;
Steroid 21-Hydroxylase/genetics*

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