1.Structure and Function of Rhizomicrobes Recruited by Acteoside in Root Exudates of Rehmannia glutinosa
Yongxiang ZHANG ; Bao ZHANG ; Lianghua LIN ; Fan YANG ; Shujuan XUE ; Li GU ; Zhongyi ZHANG ; Liuji ZHANG ; Suiqing CHEN
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(9):156-165
ObjectiveTo reveal the correlation of Rehmannia glutinosa-soil feedback process with the formation of its continuous cropping obstacles through the identification of the root exudates of R. glutinosa and analysis of the specific rhizomicrobes recruited by the root exudate. MethodThe root exudates of R. glutinosa seedlings germinated under sterilized condition and those enriched in the rhizosphere of R. glutinosa cultivated in the field were collected and analyzed using the ultra-performance liquid chromatography quadrupole time-of-flight mass spectrometry(UPLC-Q-TOF-MS). The highly abundant compounds identified in the root exudates were added into blank soil, and the soil microbial community was profiled using Illumina Miseq sequencing. The bacterial and fungal functions were predicted by PICRUSt and FUNGuild, respectively. ResultThe identification results showed that seven phenylethanoid glycosides were found in R. glutinosa root exudates, and acteoside possessed the highest abundance. In the soil enriched with acteoside, the bacterial genera such as Agromyces, Pseudomonas, Lysobacter, Sphingobium, Pseudoxanthomonas and Sphingomonas were enriched. For the fungi, the genera Neocosmospora, Plectosphaerella and Dactylonectria, and the species such as Neocosmospora rubicola, Plectosphaerella cucumerina, Dactylonectria alcacerensis and Fusarium solani showed higher abundance. The functional analysis indicated the above-mentioned bacterial genera may realize rapid proliferation by utilizing, biodegrading and transforming phenylethanoid glycosides, and some potential fungal pathogens were colonized. ConclusionThe R. glutinsoa-soil feedbacks were likely generated by the phenylethanoid glycosides in the root exudates together with the specific rhizomicrobes. The investigations of R. glutinsoa-soil feedbacks under continuous cropping system are critical to the further understanding of the underlying mechanisms related to its continuous cropping obstacles.
2.Age-period-cohort analysis of the incidence of hepatitis B among children aged under 10 years in Zhejiang Province from 2004 to 2020
LI Fudong ; HE Fan ; HE Hanqing ; ZHANG Tao ; GU Xue ; YU Min
Journal of Preventive Medicine 2024;36(9):737-740
Objective:
To investigate the trend of hepatitis B incidence among children under 10 years in Zhejiang Province from 2004 to 2020 with age, period and birth cohort, so as to provide the basis for evaluating the implementation of hepatitis B prevention and control measures for children in Zhejiang Province.
Methods:
Data of hepatitis B incidence among children under 10 years in Zhejiang Province from 2004 to 2020 were collected through the Infectious Disease Reporting Information System of Chinese Disease Prevention and Control Information System. The trend in hepatitis B incidence was analyzed using an age-period-cohort model.
Results:
The incidence of hepatitis B among children under 10 years in Zhejiang Province decreased from 12.91/105 in 2004 to 0.61/105 in 2020, with a reduction of 95.24%. The incidence showed an decreasing trend with the increase of age. Compared with 2012, the risk of hepatitis B incidence among children under 10 years appeared a tendency towards a decline with time, with the period rate ratio decreased from 4.546 (95%CI: 3.322-6.220) in 2004 to 0.277 (95%CI: 0.161-0.478) in 2020. Compared with the 2008 cohort, the risk of hepatitis B incidence appeared a tendency towards a decline with cohort, with the cohort rate ratio decreased from 25.535 (95%CI: 15.105-43.166) in 1995 to 0.135 (95%CI: 0.038-0.475) in 2020.
Conclusions
The incidence of hepatitis B among children aged under 10 years in Zhejiang Province from 2004 to 2020 showed a downward trend. The risk of hepatitis B incidence decreased with increasing age and advancing birth cohort.
3.Analysis of the real situation of medication in the population with gout achieving T2T indicators: a multicentre real-world study
Weiqin GAO ; Xuezhong GONG ; Yuanyuan ZHANG ; Xingchen DU ; Ping JIANG ; Fengyuan GUAN ; Ying LU ; Xiao SU ; Hongze JIANG ; Hongbin LI ; Yongfei FANG ; Hengli ZHAO ; Jiangyun PENG ; Mingli GAO ; Li SU ; Fang HE ; Qingwen TAO ; Chunrong HU ; Peng LI ; Zeguang LI ; Yuelan ZHU ; Ying GU ; Ming ZHANG ; Rongsheng WANG ; Ting JIANG ; Xiaolin YANG ; Qi ZHU ; Quan JIANG ; Jianyong ZHANG ; Xiaolei FAN ; Yu XUE ; Dongyi HE
Chinese Journal of Rheumatology 2023;27(6):361-367
Objective:To explore the therapeutic characteristics of population with gout achieving treat-to-target (T2T) indicators through real-world research and evaluate their safety.Methods:A total of 3 287 patients diagnosed with gout by rheumatologists in 21 first-class tertiary hospitals in 10 provinces, municipalities, and autonomous regions in China from January 2015 to December 2021 were included in this polycentric cross-sectional study. The database included patients′ general information, disease characteristics, and clinical application of traditional Chinese and Western medicine treatment measures. SPSS and Excel software were used for data analysis. Frequency analysis, cluster analysis, and factor analysis were used to summarize the characteristics and rules of treatment measures for patients with gout who achieved the target after treatment. The occurrence of adverse events (AE) was recorded during treatment.Results:After treatment, 691 visits (7%) achieved the serum urate (SUA) target, and the most frequent use of urate-lowering therapy (ULT) was febuxostat, followed by benzbromarone. The most common treatment options were following: GroupⅠ: traditional Chinese medicine (TCM) decoction-TCM external treatment-physical exercise-proprietary Chinese medicine; GroupⅡ: ferulic acid-nonsteroidal anti-inflammatory drugs (NSAIDs); Group Ⅲ: allopurinol-sodium bicarbonate-benzbromarone; Group Ⅳ: glucocorticoid-colchicine; Group Ⅴ: febuxostat. A total of 5 898 visits (60%) chieved manifestations of joint pain VAS scores target, and the most frequently used drug to control joint symptoms was NSAIDs. The frequency of use of drugs to control joint symptoms were 2 118 times (usage rate reached 35.9%), while the frequency of ULT were 2 504 times (usage rate reached 42.5%), which was higher than the joint symptom control drug. The most common treatment options were following: Group Ⅰ: proprietary Chinese medicine-TCM decoction-TCM external treatment-physical exercise; Group Ⅱ: NSAIDs-colchicine hormones; Group Ⅲ: allopurinol, Group Ⅳ: benzbromarone; Group Ⅴ: febuxostat. A total of 59 adverse events occurred during treatment.Conclusion:The proportions of gout patients who reach target serum urate level & good control of joint symptoms are both very low, and ULT and anti-inflammatory prescription patterns are very different from international guidelines, so it is necessary to strengthen the standardized management of gout patients. At the same time, life intervention measures account for a certain proportion of the treatment plans for the T2T population, and further exploration is needed.
4.Preparation of mesoporous silica nanoparticles with different sizes and study on the correlation between size and toxicity
Xiao-wei XIE ; Meng-ying CHENG ; Wei-xiang FANG ; Xue LIN ; Wen-ting GU ; Kai-ling YU ; Ting-xian YE ; Wei-yi CHENG ; Li HE ; Hang-sheng ZHENG ; Ying-hui WEI ; Ji-gang PIAO ; Fan-zhu LI
Acta Pharmaceutica Sinica 2023;58(8):2512-2521
To investigate the crucial role of particle size in the biological effects of nanoparticles, a series of mesoporous silica nanoparticles (MSNs) were prepared with particle size gradients (50, 100, 150, 200 nm) with the traditional Stober method and adjusting the type and ratio of the silica source. The correlation between toxicity and size-caused biological effects were then further examined both
5.Clinical characteristics of 111 cases with mucopolysaccharidosis ⅣA.
Meng Ni YI ; Hui Wen ZHANG ; Xiao Lan GAO ; Yu WANG ; Lian Shu HAN ; Wen Juan QIU ; Xue Fan GU
Chinese Journal of Pediatrics 2023;61(6):503-508
Objective: To analyze the clinical characteristics of patients with Mucopolysaccharidosis ⅣA (MPS ⅣA). Methods: A retrospective study was conducted on 111 patients with MPS ⅣA in Xinhua Hospital of Shanghai Jiao Tong University School of Medcine from December 2008 to August 2020, confirmed by enzyme activity and genetic testing. General situation, clinical manifestations and enzyme activity test results were analyzed. According to the clinical manifestations, it can be divided into severe, intermediate and mild group. The independent sample t test was used to compare the birth body length and weight of children with that of normal boys and girls, and group comparisons of enzyme activities were evaluated by median test. Results: One hundred and eleven unrelated patients, 69 males and 42 females, were classified into 3 subtypes: severe (n=85), intermediate (n=14), and mild (n=12). The age at symptom onset were 1.6 (1.0, 3.0) years, and at diagnosis were 4.3 (2.8, 7.8) years. Skeletal manifestations were observed in all patients and consisted mainly of pectus carinatum (96/111, 86.5%), motor dysfunction (78/111, 70.3%), spinal deformity (71/111, 64.0%), growth retardation (64/111, 57.7%), joint laxity (63/111, 56.8%) and genu valgum (62/111, 55.9%). Eighty-eight patients (88/111, 79.3%) with MPS ⅣA were also along with non-skeletal manifestations, mainly including snoring (38/111, 34.2%), coarse faces (34/111, 30.6%), and visual impairment (26/111, 23.4%). The most common skeletal manifestation was pectus carinatum (79 cases), and non-skeletal manifestation was snoring (30 cases) and coarse faces (30 cases) in severe patients, pectus carinatum (13 cases) and snoring (5 cases) in intermediate type, motor dysfunction (11 cases) and snoring (3 cases) and visual impairment (3 cases) in mild patients. The height and weight of severe patients began to fall below -2 s at 2-<5 years and 5-<7 years, respectively. At the age of 10-<15 years, the standard deviation score of the height of severe patients reached (-6.2±1.6) s in males and (-6.4±1.2) s in females, and the score of weight got (-3.0±1.1) s in males and (-3.5±0.5) s in females. The height of intermediate patients began to fall below -2 s at the age of 7-<10 years, and the standard deviation score of height were -4.6 s and -3.6 s in 2 males, and -4.6 s and -3.8 s in 2 females at the age of 10-<15 years. The weight remained within -2 s in 72.0% (18/25) of intermediate patients compared to age-matched healthy children. In the mild patients with MPS ⅣA, the mean standard deviation score of height and weight was within -2 s. The enzyme activities of mild patients (2.02 (1.05, 8.20) nmol/(17 h·mg)) were both significantly higher than that of intermediate (0.57 (0.47, 0.94) nmol/(17 h·mg)) and severe (0.22 (0, 0.59) nmol/(17 h·mg)) patients (Z=9.91, 13.98, P=0.005, 0.001), and the enzyme activity of intermediate patients was significantly higher than that of severe patients (Z=8.56, P=0.010). Conclusions: The clinical manifestations of MPS ⅣA are charactered by pectus carinatum, motor function impairment, spinal deformity and growth retardation. The clinical characteristics, growth rate and enzyme activity differ among the 3 subtypes of MPS ⅣA.
Male
;
Child
;
Female
;
Humans
;
Adolescent
;
Mucopolysaccharidosis IV
;
Pectus Carinatum
;
Retrospective Studies
;
Snoring
;
China
;
Mucopolysaccharidoses
;
Growth Disorders
;
Vision Disorders
6.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
7.Association between KLB gene and susceptibility to sarcopenia among the elderly
GU Xue ; LI Fudong ; XU Le ; ZHANG Tao ; ZHAI Yujia ; HE Fan
Journal of Preventive Medicine 2023;35(10):890-894
Objective:
To examine the associations of fibroblast growth factor 19 (FGF19), its co-receptor KLB gene and its receptor FGFR4 with susceptibility to sarcopenia, so as to provide insights into elucidation of sarcopenia pathogenesis and formulation of precision interventions for sarcopenia.
Methods:
A case-control study was conducted. Patients with sarcopenia at ages of 60 years and older included in the Zhejiang Provincial Elderly Health Surveillance Cohorts were selected as the sarcopenia group, and normal residents at ages of 60 years and older were served as controls. Subjects' demographics were collected using questionnaire surveys, and the height, body weight, appendicular skeletal muscle mass and grip strength were measured. Genomic DNA was extracted from blood samples for multiplex PCR targeted capture. The associations between the KLB gene single-nucleotide polymorphisms (SNPs) and susceptibility to sarcopenia were evaluated using multivariable logistic regression models.
Results:
There were 200 cases in the sarcopenia group, including 91 men and 109 women, and 180 cases in the control group, including 70 men and 110 women. All SNPs satisfied the Hardy-Weinberg equilibrium, and the minor allele frequencies were all > 0.05. There were no significant differences in the distribution of SNPs between the sarcopenia and control groups (all P>0.05). Multivariable logistic regression analysis showed that the SNP rs2687968 locus in the KLB gene was significantly associated with the susceptibility to sarcopenia among the elderly men (superdominant model), and individuals carrying the AC allele had a 2.332-fold higher risk of sarcopenia than those carrying the AA/CC allele (95%CI: 1.882-3.313).
Conclusions
KLB gene may correlate with the susceptibility to sarcopenia among the elderly men.
8.Chinese expert consensus on diagnosis, treatment and prevention of venous thrombus embolism associated with chest trauma (2022 version)
Kaibin LIU ; Yi YANG ; Hui LI ; Yonten TSRING ; Zhiming CHEN ; Hao CHEN ; Xinglong FAN ; Congrong GAO ; Chundong GU ; Yutong GU ; Guangwei GUO ; Zhanlin GUO ; Jian HU ; Ping HU ; Hai HUANG ; Lijun HUANG ; Weiwei HE ; Longyu JIN ; Baoli JING ; Zhigang LIANG ; Feng LIN ; Wenpan LIU ; Danqing LI ; Xiaoliang LI ; Zhenyu LI ; Haitao MA ; Guibin QIAO ; Zheng RUAN ; Gang SUI ; Dongbin WANG ; Mingsong WANG ; Lei XUE ; Fei XIA ; Enwu XU ; Quan XU ; Jun YI ; Yunfeng YI ; Jianguo ZHANG ; Dongsheng ZHANG ; Qiang ZHANG ; Zhiming ZHOU ; Zhiqiang ZOU
Chinese Journal of Trauma 2022;38(7):581-591
Chest trauma is one of the most common injuries. Venous thromboembolism (VTE) as a common complication of chest trauma seriously affects the quality of patients′ life and even leads to death. Although there are some consensus and guidelines on the prevention and treatment of VTE at home and abroad, the current literatures lack specificity considering the diagnosis, treatment and prevention of VTE in patients with chest trauma have their own characteristics, especially for those with blunt trauma. Accordingly, China Chest Injury Research Society and editorial board of Chinese Journal of Traumatology organized relevant domestic experts to jointly formulate the Chinese expert consensus on the diagnosis, treatment and prevention of chest trauma venous thromboembolism associated with chest trauma (2022 version). This consensus provides expert recommendations of different levels as academic guidance in terms of the characteristics, clinical manifestations, risk assessment, diagnosis, treatment, and prevention of chest trauma-related VTE, so as to offer a reference for clinical application.
9.Effect of dietary behaviors on handgrip strength loss among the elderly
Rui FANG ; Xue GU ; Fudong LI ; Tao ZHANG ; Yujia ZHAI ; Junfen LIN ; Fan HE ; Min YU
Journal of Preventive Medicine 2022;34(11):1161-1166
Objective:
To examine the effect of dietary behaviors on handgrip strength loss among the elderly, so as to provide insights into the prevention of handgrip strength loss.
Methods :
Based on the health surveillance cohort among the elderly in Zhejiang Province, two villages or communities were randomly sampled from each of Shaoxing and Zhoushan cities using a multi-stage cluster sampling method, and all residents that had lived in local areas for one year and longer and had an age of 60 years and older were enrolled. Participants' demographics, dietary behaviors, smoking, drinking, and exercise were collected through questionnaire surveys, and the height, body weight and handgrip strength were measured. The handgrip strength loss was diagnosed according the 2019 Consensus Update on Sarcopenia Diagnosis and Treatment proposed by Asian Working Group for Sarcopenia, and the effect of dietary behaviors on handgrip strength loss was examined using a multivariable logistic regression model.
Results:
A total of 1 265 residents were enrolled, with a mean age of (70.67±7.30) years, and including 565 men (44.66%) and 700 women (55.34%). The overall prevalence of handgrip strength loss was 42.85% among the participants, and the prevalence was 40.35% in men and 44.86% in women, respectively. Multivariable logistic regression analysis showed that nut intake for 1 to 3 times a week (OR=0.180, 95%CI: 0.088-0.367) and for 4 to 6 times a week (OR=0.241, 95%CI: 0.113-0.514) led to a reduced risk of handgrip strength loss among the elderly, and intake of sugary drinks for 4 to 6 times a week led to an increased risk of handgrip strength loss among the elderly (OR=2.298, 95%CI: 1.120-4.714) after adjustment for age, body mass index, educational level and exercise.
Conclusion
Intake of nuts and sugary drinks may affect the development of handgrip strength loss among the elderly.
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*
;
Adrenal Insufficiency
;
Adrenocorticotropic Hormone
;
Child, Preschool
;
China
;
Disorder of Sex Development, 46,XY
;
Female
;
Humans
;
Hydrocortisone
;
Hydroxyprogesterones
;
Hyperplasia
;
Infant
;
Male
;
Mutation
;
Phosphoproteins/genetics*
;
Retrospective Studies


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