1.Dosimetric effect of calculation grid size on stereotactic body radiation therapy of lung cancer in helical tomotherapy planning system
Xia-Yu HANG ; Wan-Rong JIANG ; Yi-Kun LI ; Jun HU ; Yan ZHANG ; Ruo-Qi CAO ; Nan XU ; Lei WANG ; Jin-Da ZHOU ; Xiang-Dong SUN
Chinese Medical Equipment Journal 2024;45(2):52-57
Objective To investigate the dosimetric effects of different calculation grid size(CGS)in helical tomotherapy(HT)planning system on stereotactic body radiation therapy(SBRT)for non-small cell lung cancer(NSCLC).Methods Nine NSCLC patients receiving radiation therapy for the first time at some hospital from March 2019 to December 2022 were selected as the subjects.SBRT planning was carried out through the HT system with three different CGS plans(Fine,Normal,and Coarse)and the same pitch,modulation factor(MF)and optimization conditions,and the target area indexes of the three CGS plans were compared including conformity index(CI),homogeneity index(HI),dosimetric parameters of the organ at risk(OAR),point dose verification pass rate,treatment time,number of monitor units and Sinograms.SPSS 22.0 was used for statistical analysis.Results For target area HI,there weres significant differences between CGS Fine plan and Coarse plan and between CGS Normal plan and Coarse plan(P<0.05),while no statistical differences were found between CGS Fine plan and Normal plan(P>0.05).For target area CI,there were significant differences between CGS Fine plan and Coarse plan(P<0.05),while no statistical differences were found between CGS Fine plan and Normal plan and between CGS Normal plan and Coarse plan(P>0.05).For OAR dosimetric parameters,CGS Fine plan and Coarse plan had significant differences in heart Dmax and Dmean,esophageal Dmax and Dmean,V5,V20,V30 and Dmean of the whole lung and affected lung,V5 and Dmax of the affected lung and heart V10 and V30(P<0.05),CGS Normal plan and Coarse plan had obvious differences in esophageal Dmax(P<0.05),and the remained dosimetric parameters were not statistically significant(P>0.05).Fine,Normal and Coarse plans had the point dose verifica-tion pass rates being 0.96%,1.50%and 1.77%,respectively.In terms of treatment time and number of monitor units,there were significant differences between Fine plan and Coarse plan(P<0.05)while no statistical differences were found between Fine and Normal plans and between Normal and Coarse plans(P>0.05).Sinograms analyses showed Fine plan had evenly distributed segment color gradient,Coarse plan had areas of very dark and very light color gradients and Normal plan was somewhere in between.Conclusion Low CGS has to be used as much as possible to obtain accurate dose distribution during SBRT planning for NSCLC patients,which contributes to the execution of the radiation therapy plan and the prevention of ad-verse effects.[Chinese Medical Equipment Journal,2024,45(2):52-57]
2.A multicenter study of neonatal stroke in Shenzhen,China
Li-Xiu SHI ; Jin-Xing FENG ; Yan-Fang WEI ; Xin-Ru LU ; Yu-Xi ZHANG ; Lin-Ying YANG ; Sheng-Nan HE ; Pei-Juan CHEN ; Jing HAN ; Cheng CHEN ; Hui-Ying TU ; Zhang-Bin YU ; Jin-Jie HUANG ; Shu-Juan ZENG ; Wan-Ling CHEN ; Ying LIU ; Yan-Ping GUO ; Jiao-Yu MAO ; Xiao-Dong LI ; Qian-Shen ZHANG ; Zhi-Li XIE ; Mei-Ying HUANG ; Kun-Shan YAN ; Er-Ya YING ; Jun CHEN ; Yan-Rong WANG ; Ya-Ping LIU ; Bo SONG ; Hua-Yan LIU ; Xiao-Dong XIAO ; Hong TANG ; Yu-Na WANG ; Yin-Sha CAI ; Qi LONG ; Han-Qiang XU ; Hui-Zhan WANG ; Qian SUN ; Fang HAN ; Rui-Biao ZHANG ; Chuan-Zhong YANG ; Lei DOU ; Hui-Ju SHI ; Rui WANG ; Ping JIANG ; Shenzhen Neonatal Data Network
Chinese Journal of Contemporary Pediatrics 2024;26(5):450-455
Objective To investigate the incidence rate,clinical characteristics,and prognosis of neonatal stroke in Shenzhen,China.Methods Led by Shenzhen Children's Hospital,the Shenzhen Neonatal Data Collaboration Network organized 21 institutions to collect 36 cases of neonatal stroke from January 2020 to December 2022.The incidence,clinical characteristics,treatment,and prognosis of neonatal stroke in Shenzhen were analyzed.Results The incidence rate of neonatal stroke in 21 hospitals from 2020 to 2022 was 1/15 137,1/6 060,and 1/7 704,respectively.Ischemic stroke accounted for 75%(27/36);boys accounted for 64%(23/36).Among the 36 neonates,31(86%)had disease onset within 3 days after birth,and 19(53%)had convulsion as the initial presentation.Cerebral MRI showed that 22 neonates(61%)had left cerebral infarction and 13(36%)had basal ganglia infarction.Magnetic resonance angiography was performed for 12 neonates,among whom 9(75%)had involvement of the middle cerebral artery.Electroencephalography was performed for 29 neonates,with sharp waves in 21 neonates(72%)and seizures in 10 neonates(34%).Symptomatic/supportive treatment varied across different hospitals.Neonatal Behavioral Neurological Assessment was performed for 12 neonates(33%,12/36),with a mean score of(32±4)points.The prognosis of 27 neonates was followed up to around 12 months of age,with 44%(12/27)of the neonates having a good prognosis.Conclusions Ischemic stroke is the main type of neonatal stroke,often with convulsions as the initial presentation,involvement of the middle cerebral artery,sharp waves on electroencephalography,and a relatively low neurodevelopment score.Symptomatic/supportive treatment is the main treatment method,and some neonates tend to have a poor prognosis.
3.Impact of fatty liver on long-term outcomes in chronic hepatitis B: a systematic review and matched analysis of individual patient data meta-analysis
Yu Jun WONG ; Vy H. NGUYEN ; Hwai-I YANG ; Jie LI ; Michael Huan LE ; Wan-Jung WU ; Nicole Xinrong HAN ; Khi Yung FONG ; Elizebeth CHEN ; Connie WONG ; Fajuan RUI ; Xiaoming XU ; Qi XUE ; Xin Yu HU ; Wei Qiang LEOW ; George Boon-Bee GOH ; Ramsey CHEUNG ; Grace WONG ; Vincent Wai-Sun WONG ; Ming-Whei YU ; Mindie H. NGUYEN
Clinical and Molecular Hepatology 2023;29(3):705-720
Background/Aims:
Chronic hepatitis B (CHB) and fatty liver (FL) often co-exist, but natural history data of this dual condition (CHB-FL) are sparse. Via a systematic review, conventional meta-analysis (MA) and individual patient-level data MA (IPDMA), we compared liver-related outcomes and mortality between CHB-FL and CHB-no FL patients.
Methods:
We searched 4 databases from inception to December 2021 and pooled study-level estimates using a random- effects model for conventional MA. For IPDMA, we evaluated outcomes after balancing the two study groups with inverse probability treatment weighting (IPTW) on age, sex, cirrhosis, diabetes, ALT, HBeAg, HBV DNA, and antiviral treatment.
Results:
We screened 2,157 articles and included 19 eligible studies (17,955 patients: 11,908 CHB-no FL; 6,047 CHB-FL) in conventional MA, which found severe heterogeneity (I2=88–95%) and no significant differences in HCC, cirrhosis, mortality, or HBsAg seroclearance incidence (P=0.27–0.93). IPDMA included 13,262 patients: 8,625 CHB-no FL and 4,637 CHB-FL patients who differed in several characteristics. The IPTW cohort included 6,955 CHB-no FL and 3,346 CHB-FL well-matched patients. CHB-FL patients (vs. CHB-no FL) had significantly lower HCC, cirrhosis, mortality and higher HBsAg seroclearance incidence (all p≤0.002), with consistent results in subgroups. CHB-FL diagnosed by liver biopsy had a higher 10-year cumulative HCC incidence than CHB-FL diagnosed with non-invasive methods (63.6% vs. 4.3%, p<0.0001).
Conclusions
IPDMA data with well-matched CHB patient groups showed that FL (vs. no FL) was associated with significantly lower HCC, cirrhosis, and mortality risk and higher HBsAg seroclearance probability.
4.Surgical treatment for perihilar cholangiocarcinoma:a single-center experience.
Wan Ying DENG ; Xiang De SHI ; Yan Fang YE ; Qi Bin TANG ; Hao Ming LIN ; Xian Hao YU ; Chao LIU
Chinese Journal of Surgery 2023;61(5):381-388
Objective: To investigate surgical strategies and the corresponding benefits for patients with perihilar cholangiocarcinoma(pCCA). Methods: A total of 81 patients with pCCA who underwent radical excision in the Department of Biliary and Pancreatic Surgery of Sun Yat-Sen Memorial Hospital between January 2014 and December 2021 were retrospectively collected.The cohort consisted of 50 male and 31 female patients,with an age of (62.5±11.5)years(range:26 to 83 years).Seventy-five cases were diagnosed with jaundice,60 of whom received preoperative biliary drainage,while 20 patients received portal vein embolization.Their serum bilirubin level within one week before the operation(M(IQR)) was 44.3 (41.9) μmol/L(range:8.0 to 344.2 μmol/L).Preoperative imaging examinations were performed to evaluate the Bismuth-Corlette type of pCCA,showing 3,6,21,27,and 24 cases of Bismuth-Corlette type Ⅰ,Ⅱ,Ⅲa,Ⅲb,and Ⅳ,respectively.The primary outcome was overall survival (OS),and the secondary outcomes were relapse-free survival (RFS),90-day postoperative morbidity and 90-day postoperative mortality.OS and RFS were estimated using the Kaplan-Meier method and compared by the Log-rank test.Significant prognostic factors were determined using univariate and multivariable Cox proportional hazard regression analyses. Results: In the cohort of 81 pCCA patients,67 cases(82.7%) underwent major hepatectomy while 3 cases received major hepatectomy combined with pancreaticoduodenectomy.Thirty-four patients underwent hepatectomy combined with vascular resection and reconstruction(18 cases of portal vein resection and reconstruction alone;9 cases of hepatic artery resection and reconstruction alone;7 cases of combination of portal vein and hepatic artery resection and reconstruction).Margin negative(R0 excision) were achieved in 53.1%(43/81) of these patients.The operation duration was (627±136)minutes(range:565 to 940 minutes),and the intraoperative blood loss was 400(455)ml(range:200 to 2 800 ml).The 90-day postoperative mortality was 3.7%(3/81).Grade 3-4 postoperative morbidity was 23.4% (19/81) according to the Clavien-Dindo classification of surgical complications.Up to the last follow-up at September 2022,the follow-up time was 34.0(24.2)months (range:0.4 to 103.6 months).Three patients who died within 90 days after surgery were excluded from the survival analysis.The median OS was 36.10 months (95%CI:18.23 to 42.97 months) and the 1-,3-and 5-year OS rates were 85.3%,46.8% and 27.3%,respectively.The median OS of 41 patients with negative margins was 47.83 months(95%CI:36.90 to 58.80 months) and that of 37 patients with positive margins was 20.47 months(95%CI:10.52 to 30.58 months).The median RFS of 70 patients with R0 and R1 resection was 24.50 months(95%CI:12.15 to 31.85 months)and the 1-,3-and 5-year RFS rates were 65.2%,45.7% and 29.9%,respectively.The median RFS of 41 patients with R0 resection was 38.57 months(95%CI:21.50 to 55.63 months) and that of 29 patients with R1 resection was 10.83 months(95%CI:2.82 to 19.86 months). Conclusions: The primary therapy for pCCA is radical surgical resection.A precise preoperative evaluation and sufficient preparation can reduce postoperative morbidity.Surgical treatment can achieve a better survival outcome by increasing the radical resection rate.
6.Epidemiological investigation and analysis of a cluster epidemic of COVID-19 on campus in 2022
Qi WANG ; Dan LIU ; Tingju QIAO ; Xuesong SUN ; Hanbing WAN ; Zhengran LIU ; Gang BAI
Shanghai Journal of Preventive Medicine 2023;35(8):773-778
ObjectiveTo characterize a cluster epidemic of coronavirus disease 2019 (COVID-19)on campus in Baotou city and provide evidence for the prevention and control of COVID-19 in universities. MethodsField epidemiological investigation was conducted to determine the confirmed cases and close contacts in the cluster epidemic of COVID-19 in a university of western China in 2022. Descriptive analysis was utilized to illustrate the epidemic timeline and schematic diagram. Real-time quantitative fluorescent PCR(RT-PCR) was used to detect the nucleic acid of SARS-CoV-2 in the collected samples. ResultsA total of eight students were infected in the cluster epidemic on campus, including 2 confirmed cases and 6 asymptomatic cases. Case A1 infected other 7 students in the same dormitory or on the same floor by close contact. After a 10-day quarantine and medical observation, no further case was reported. The overall incidence rate was 1.22% and the incidence rate among close contacts was 2.24%. ConclusionThis cluster epidemic of COVID-19 is characterized by strong and fast transmission. Repeated contact with no personal protection in confined space is highly vulnerable to cluster epidemic. Prevention of cluster epidemics on campus remains crucial to contain the epidemic. Therefore, it is necessary to strengthen the management of campus containment, interrupt the transmission route, identify close contacts and implement quarantine management as early as possible to avoid the cluster epidemics on campus.
7.Short-course radiotherapy combined with CAPOX and PD-1 inhibitor for the total neoadjuvant therapy of locally advanced rectal cancer: the preliminary single-center findings of a prospective, multicentre, randomized phase II trial (TORCH).
Ya Qi WANG ; Li Jun SHEN ; Jue Feng WAN ; Hui ZHANG ; Yan WANG ; Xian WU ; Jing Wen WANG ; Ren Jie WANG ; Yi Qun SUN ; Tong TONG ; Dan HUANG ; Lei WANG ; Wei Qi SHENG ; Xun ZHANG ; Guo Xiang CAI ; Ye XU ; San Jun CAI ; Zhen ZHANG ; Fan XIA
Chinese Journal of Gastrointestinal Surgery 2023;26(5):448-458
Objective: Total neoadjuvant therapy has been used to improve tumor responses and prevent distant metastases in patients with locally advanced rectal cancer (LARC). Patients with complete clinical responses (cCR) then have the option of choosing a watch and wait (W&W) strategy and organ preservation. It has recently been shown that hypofractionated radiotherapy has better synergistic effects with PD-1/PD-L1 inhibitors than does conventionally fractionated radiotherapy, increasing the sensitivity of microsatellite stable (MSS) colorectal cancer to immunotherapy. Thus, in this trial we aimed to determine whether total neoadjuvant therapy comprising short-course radiotherapy (SCRT) combined with a PD-1 inhibitor improves the degree of tumor regression in patients with LARC. Methods: TORCH is a prospective, multicenter, randomized, phase II trial (TORCH Registration No. NCT04518280). Patients with LARC (T3-4/N+M0, distance from anus ≤10 cm) are eligible and are randomly assigned to consolidation or induction arms. Those in the consolidation arm receive SCRT (25Gy/5 Fx), followed by six cycles of toripalimab plus capecitabine and oxaliplatin (ToriCAPOX). Those in the induction arm receive two cycles of ToriCAPOX, then undergo SCRT, followed by four cycles of ToriCAPOX. Patients in both groups undergo total mesorectal excision (TME) or can choose a W&W strategy if cCR has been achieved. The primary endpoint is the complete response rate (CR, pathological complete response [pCR] plus continuous cCR for more than 1 year). The secondary endpoints include rates of Grade 3-4 acute adverse effects (AEs) etc. Results: Up to 30 September 2022, 62 patients attending our center were enrolled (Consolidation arm: 34, Induction arm:28). Their median age was 53 (27-69) years. Fifty-nine of them had MSS/pMMR type cancer (95.2%), and only three MSI-H/dMMR. Additionally, 55 patients (88.7%) had Stage III disease. The following important characteristics were distributed as follows: lower location (≤5 cm from anus, 48/62, 77.4%), deeper invasion by primary lesion (cT4 7/62, 11.3%; mesorectal fascia involved 17/62, 27.4%), and high risk of distant metastasis (cN2 26/62, 41.9%; EMVI+ 11/62, 17.7%). All 62 patients completed the SCRT and at least five cycles of ToriCAPOX, 52/62 (83.9%) completing six cycles of ToriCAPOX. Finally, 29 patients achieved cCR (46.8%, 29/62), 18 of whom decided to adopt a W&W strategy. TME was performed on 32 patients. Pathological examination showed 18 had achieved pCR, four TRG 1, and 10 TRG 2-3. The three patients with MSI-H disease all achieved cCR. One of these patients was found to have pCR after surgery whereas the other two adopted a W&W strategy. Thus, the pCR and CR rates were 56.2% (18/32) and 58.1% (36/62), respectively. The TRG 0-1 rate was 68.8% (22/32). The most common non-hematologic AEs were poor appetite (49/60, 81.7%), numbness (49/60, 81.7%), nausea (47/60, 78.3%) and asthenia (43/60, 71.7%); two patients did not complete this survey. The most common hematologic AEs were thrombocytopenia (48/62, 77.4%), anemia (47/62, 75.8%), leukopenia/neutropenia (44/62, 71.0%) and high transaminase (39/62, 62.9%). The main Grade III-IV AE was thrombocytopenia (22/62, 35.5%), with three patients (3/62, 4.8%) having Grade IV thrombocytopenia. No Grade V AEs were noted. Conclusions: SCRT-based total neoadjuvant therapy combined with toripalimab can achieve a surprisingly good CR rate in patients with LARC and thus has the potential to offer new treatment options for organ preservation in patients with MSS and lower-location rectal cancer. Meanwhile, the preliminary findings of a single center show good tolerability, the main Grade III-IV AE being thrombocytopenia. The significant efficacy and long-term prognostic benefit need to be determined by further follow-up.
Humans
;
Middle Aged
;
Antineoplastic Combined Chemotherapy Protocols/therapeutic use*
;
Chemoradiotherapy
;
Immune Checkpoint Inhibitors/therapeutic use*
;
Neoadjuvant Therapy
;
Prospective Studies
;
Rectal Neoplasms/pathology*
;
Thrombocytopenia/drug therapy*
;
Treatment Outcome
;
Adult
;
Aged
8.A survey on self-management level and physical activity in patients with type 2 diabetes mellitus of Zang and Han nationalities in Tibetan of China
Yan YE ; Zengmei SUN ; Chenghui ZHANG ; Dongmei WAN ; Qi ZHENG ; Ling WANG ; Suyuan WANG ; Huiqin ZHANG ; Tingting DONG
Chinese Journal of Primary Medicine and Pharmacy 2023;30(7):973-978
Objective:To investigate the level of self-management and daily physical activity in patients with type 2 diabetes mellitus (T2DM) of Zang and Han nationalities in Tibetan, China, and to compare the difference in daily management between T2DM patients of Zang and Han nationalities, to develop reasonable and effective chronic disease management strategies for long-term out-of-hospital management of T2DM patients of Zang nationalities.Methods:A total of 265 T2DM patients with glycosylated hemoglobin (HbA1c) ≥ 7% who were admitted to the Endocrinology Ward of the Hospital of Chengdu Office of People's Government of Tibet Autonomous Region from November 2020 to April 2021 and who were from different regions of Tibet were included in this study according to inclusion and exclusion criteria. The general data of all included patients were collected. Glucose and lipid metabolism-related indicators were determined. The Generalized Diabetes Self-Management Efficacy Scale and International Physical Activity Questionnaires (IPAQ) were used to evaluate patients' levels of self-management and daily physical activity.Results:The hemoglobin level in T2DM patients of Zang nationality was (154.09 ± 24.11) g/L, which was significantly higher than that in T2DM patients of Han nationality ( P < 0.05). The total cholesterol, fasting blood glucose, and low-density lipoprotein in T2DM patients of Zang nationality were (4.63 ± 1.41) mmol/L, (7.94 ± 2.19) mmol/L, and (2.75 ± 1.11) mmol/L, respectively, which significantly higher compared with T2DM patients of Han nationality (all P < 0.05). Compared with T2DM patients of Han nationality, T2DM patients of Zang nationality had lower self-management scores (81.40 ± 15.44) points, diet control scores (17.26 ± 4.97) points, physical exercise scores (11.67 ± 4.42) points, prevention and treatment of high and low blood sugar score (12.21 ± 5.72) points. The differences were statistically significant (all P < 0.05). Moderate-intensity physical activity was a significant difference between T2DM patients of Zang and Han nationalities ( P < 0.05). Conclusion:Compared with T2DM patients of Han nationality, T2DM patients of Zang nationality have lower overall self-management levels, including diet control, physical exercise, prevention and management of high and low blood glucose, and moderate-intensity physical activity. Targeted individualized education should be carried out according to the Tibetan cultural characteristics, to further develop an intervention method and an out-of-hospital management strategy for chronic disease, which are suitable for T2DM patients of Zang nationality.
9.The Pathology of Primary Familial Brain Calcification: Implications for Treatment.
Xuan XU ; Hao SUN ; Junyu LUO ; Xuewen CHENG ; Wenqi LV ; Wei LUO ; Wan-Jin CHEN ; Zhi-Qi XIONG ; Jing-Yu LIU
Neuroscience Bulletin 2023;39(4):659-674
Primary familial brain calcification (PFBC) is an inherited neurodegenerative disorder mainly characterized by progressive calcium deposition bilaterally in the brain, accompanied by various symptoms, such as dystonia, ataxia, parkinsonism, dementia, depression, headaches, and epilepsy. Currently, the etiology of PFBC is largely unknown, and no specific prevention or treatment is available. During the past 10 years, six causative genes (SLC20A2, PDGFRB, PDGFB, XPR1, MYORG, and JAM2) have been identified in PFBC. In this review, considering mechanistic studies of these genes at the cellular level and in animals, we summarize the pathogenesis and potential preventive and therapeutic strategies for PFBC patients. Our systematic analysis suggests a classification for PFBC genetic etiology based on several characteristics, provides a summary of the known composition of brain calcification, and identifies some potential therapeutic targets for PFBC.
Animals
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Brain Diseases/therapy*
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Xenotropic and Polytropic Retrovirus Receptor
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Brain/pathology*
10.Clinical and StAR genetic characteristics of 33 children with congenital lipoid adrenal hyperplasia.
Wan Qi ZHENG ; Ying DUAN ; Bing XIAO ; Li Li LIANG ; Yu XIA ; Zhu Wen GONG ; Yu SUN ; Hui Wen ZHANG ; Lian Shu HAN ; Rui Fang WANG ; Yi YANG ; Xia ZHAN ; Yong Guo YU ; Xue Fan GU ; Wen Juan QIU
Chinese Journal of Pediatrics 2022;60(10):1066-1071
Objective: To analyze the clinical and genetic characteristics of 33 children with congenital lipoid adrenal hyperplasia (CLAH) caused by StAR gene defects. Methods: The clinical, biochemical, genetic, and follow-up (until December 2021) data of 33 children diagnosed with CLAH from 2006 to 2021 were retrospectively analyzed in Xinhua Hospital, Shanghai Jiao Tong University School of Medicine. Results: Of the 33 children with CLAH, 17 had a karyotype of 46, XX and 16 had a karyotype of 46, XY; 31 were female and 2 were male by social gender. Classic type and non-classic type were found in 30 and 3 children respectively. The age at diagnosis was 9.0 (3.0, 34.5) months. All the 30 cases with classic CLAH presented within the first year of life with skin hyperpigmentation (28 cases, 93%), vomiting and(or) diarrhea (19 cases, 63%), no increase in body weight (8 cases, 27%), elevated adrenocorticotropic hormone levels (21cases (70%)>275 pmol/L), decreased cortisol levels (47 (31,126) nmol/L), hyponatremia ((126±13) mmol/L), hyperkalemia ((5.7±1.1) mmol/L), and normal 17α-hydroxyprogesterone levels (30 cases, 100%). All these with classic CLAH exhibited female external genitalia. Three children with non-classic CLAH (including 2 cases of 46, XY and 1 case of 46, XX) also showed signs and symptoms of adrenal insufficiency, but 2 of them had an age of onset later than 1 year of age, including 1 case of 46, XY with male external genitalia and 1 case of 46, XX with female external genitalia. The other 46, XY patient with non-classic CLAH presented with adrenal insufficiency at 2 months of age, showing micropenis and hypospadias. In the 17 females with 46, XX, 4 older than 10 years of age showed spontaneous pubertal development. A total of 25 StAR gene pathogenic variants were identified in 33 patients, with p.Q258* (18/66, 27%), p.K236Tfs*47 (8/66, 12%) and p.Q77* (6/66, 9%) being the common variantion. Six novel variants were found, including c.358T>G, c.713_714del, c.125del, c.745-1G>A, c.179-2A>C, and exon 1 deletion. Conclusions: Patients with classic CLAH typically present with signs and symptoms of primary adrenal insufficiency in the early infancy period and female external genitalia. p.Q258*, p.K236Tfs*47 and p.Q77* are common variants in CLAH patients.
Adrenal Hyperplasia, Congenital/genetics*
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Adrenal Insufficiency
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Adrenocorticotropic Hormone
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Child, Preschool
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China
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Disorder of Sex Development, 46,XY
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Female
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Humans
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Hydrocortisone
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Hydroxyprogesterones
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Hyperplasia
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Infant
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Male
;
Mutation
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Phosphoproteins/genetics*
;
Retrospective Studies

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