1.Clinical study on the treatment of postoperative recurrence of lumbar disc herniation with intervertebral fusion
Lian-Sheng ZHENG ; Xue-Min LI ; Yu-Long LI
China Journal of Orthopaedics and Traumatology 2024;37(3):235-241
		                        		
		                        			
		                        			Objective To explore clinical effect of different intervertebral fusion devices(cage)in treating postoperative recurrent lumbar disc herniation(LDH).Methods One hundred and forty-two LDH patients with recurrence after simple in-tervertebral disc nucleus pulpoideectomy from January 2019 to January 2021 were retrospectively analyzed.All patients were treated with combined underchannel fixation and interbody fusion and divided into a single anatomical group,two-anatomical group and a single banana group according to types and numbers of implanted cage.There were 51 patients in a single anatom-ical group,included 29 males and 22 females,aged from 39 to 65 years old with an average of(53.74±5.68)years old;body mass index(BMI)ranged from 18.62 to 28.13 kg·m-2 with an average of(22.08±2.15)kg·m-2;the interval between operation and recurrence ranged from 0.5 to 4.0 years with an average of(2.7±0.8)years;5 patients with L3,4,35 patients with L4,5 and 11 patients with L5S1;a single anatomical cage was implanted.There were 46 patients in two-anatomical group,included 25 males and 21 females,aged from 37 to 66 years old with an average of(54.52±6.02)years old;BMI ranged from 18.25 to 28.44 kg· m-2 with an average of(21.74±1.83)kg·m-2;the interval between operation and recurrence ranged from 0.5 to 5.0 years with an average of(2.7±0.9)years;4 patients with L3,4,32 patients with L4,5 and 10 patients with L5S1;two-anatomical cages were im-planted.There were 45 patients in a single banana group,included 22 males and 23 females,aged from 38 to 65 years old with an average of(54.49±6.45)years old;BMI ranged from 18.85 to 28.20 kg·m-2with an average of(21.63±1.59)kg·m-2;the interval between operation and recurrence ranged from 0.5 to 5.0 years with an average of(2.6±1.0)years;3 patients with L3,4,36 patients with L4,5 and 16 patients with L5S1;a single banana cage was implanted.Operation time,intraoperative blood loss,incision length,postoperative incision drainage volume,hospital stay and complications among 3 groups were observed and compared.The height of intervertebral space before and after operation,curvature of lordosis and the postoperative interverte-bral fusion were compared.Visual analogue scale(VAS)and Oswestry disability index(ODI)were used to evaluate degree of lumbar pain and lumbar function before operation,1 and 6 months after operation,respectively.Results All patients among 3 groups were followed up at least 6 months,and no cases were fell out.There were no significant difference in operation time,in-traoperative blood loss,incision length,postoperative incision drainage volume and hospital stay among 3 groups(P>0.05).At 6 months after operation,the height of intervertebral space in two-anatomical group and a single group were[(11.08±1.78)mm,(10.95±1.62)mm],curvature of lordosis were[(12.05±1.86)°,(11.63±1.57)°],which were higher than those in a sin-gle dissection group(10.14±1.54)mm,(10.92±1.45)°,and the difference were statistically significant(P<0.05).The inter-body fusion rate between two-anatomical and a banana group(95.65%,95.56%)were higher than that in a single anatomical group(78.43%)at 6 months after operation(P<0.05).VAS and ODI of lumbar among 3 groups were decreased at 1 and 6 months after operation(P<0.05).There was no significant difference in complications among 3 groups(P>0.05).Conclusion The three fusion devices could achieve significant results in treating postoperative recurrence of LDH,but the implantation of two-anatomical cage and a single banana cage are more helpful to maintain the height of intervertebral space and lordosis cur-vature of patients with postoperative recurrence of LDH,and obtain good intervertebral fusion results.
		                        		
		                        		
		                        		
		                        	
		                				2.Grade quality standard development of Lycium barbarum  fruits from Ningxia genuine producing area
		                			
		                			Zhong-lian YU ; Xue-ping LI ; Li YANG ; Zheng-tao WANG ; Wen-jing LIU ; Rui WANG ; Yan-hong SHI
Acta Pharmaceutica Sinica 2024;59(5):1399-1407
		                        		
		                        			
		                        			 An integrated evaluation model based on the combination of traditional trait identification and modern chemical analysis was used for the identification of key indexes of grade classification and the establishment of grade quality standard of 
		                        		
		                        	
3.LIN Chang-Song's Experience in Differentiating and Treating Behcet's Disease
Lian-Jie LIU ; Xue-Xia ZHENG ; Qi WU ; Chang-Song LIN
Journal of Guangzhou University of Traditional Chinese Medicine 2024;41(5):1329-1334
		                        		
		                        			
		                        			Behcet's disease can be classified into the category of fox-creeper disease in the field of traditional Chinese medicine(TCM).Professor LIN Chang-Song believes that the pathogenesis of Behcet's disease is characterized by deficiency in origin and excess in superficiality,and liver depression and spleen deficiency is the fundamental pathogenesis of Behcet's disease.The cause of Behcet's disease is due to exogenous attack of pathogenic qi,and the disease has the syndrome manifestation of internal accumulation of damp-heat.For the treatment of Bechet's disease,the use of self-made Baisai Prescription and Kouyan Prescription which were derived from Gancao Xiexin Decoction recorded in Jin Gui Yao Lve(Essentials from the Golden Cabinet)together with large dosage of Glycyrrhizae Radix et Rhizoma has achieved good clinical efficacy.According to the original records of traditional Chinese Medicine classics and by combining the clinical medication experience,Professor LIN Chang-Song proposed that the dosage of Glycyrrhizae Radix et Rhizoma should be enlarged,usually in the dose of 30-40 g.For the treatment of patients with Behcet's disease with obvious spleen and stomach deficiency syndrome,modified Baisai Prescription(composed of Glycyrrhizae Radix et Rhizoma Praeparata cum Melle,Codonopsis Radix,Pyrolae Herba,Pinelliae Rhizoma Praeparatum,Zingiberis Rhizoma Recens,Scutellariae Radix,Coptidis Rhizoma,etc.)is adopted and Glycyrrhizae Radix et Rhizoma Praeparata cum Melle should be used.For the treatment of patients with intense damp-heat type of Behcet's disease,Kouyan Prescription(composed of Glycyrrhizae Radix et Rhizoma,Scutellariae Radix,Coptidis Rhizoma,Pinelliae Rhizoma Praeparatum,Zingiberis Rhizoma Recens,Jujubae Fructus,Pseudostellariae Radix,Ganoderma Capense,Lophatheri Herba,Plantaginis Semen,etc.)is recommended and raw Glycyrrhizae Radix et Rhizoma should be adopted.Moreover,the importance of having proper eating and drinking,keeping regular living and avoiding to overwork to prevent the recurrence of Behcet's disease was stressed.
		                        		
		                        		
		                        		
		                        	
4.Safety and efficacy of ultrasound-guided negative pressure suction and minimally invasive rotatory excision technique in the treatment of complex encapsulated lesions
Yi HUANG ; Xin ZHANG ; Lian XUE ; Chuyun ZHENG ; Min ZHAO ; Nan ZHAO ; Zhongqin HE ; Dan SU ; Lei ZUO
Chinese Journal of Ultrasonography 2024;33(5):434-440
		                        		
		                        			
		                        			Objective:To evaluate the safety and efficacy of ultrasound-guided percutaneous negative pressure suction and minimally invasive rotatory excision technique for the treatment of complex encapsulated lesions.Methods:A total of 48 patients(48 lesions) with complex encapsulated lesions who underwent ultrasound-guided percutaneous negative pressure suction and minimally invasive rotatory excision technique at Xi′an Chest Hospital from January to October 2023 were retrospectively enrolled, including 39 cases of encapsulated abscess, 7 cases of encapsulated effusion, and 2 cases of encapsulated haematoma; the distribution of the bacterial flora of the abscesses were as follows: 24 cases of tuberculous abscess, 14 cases of bacterial abscess, 1 case of bacterial combined bacterial-fungal abscess, and 7 cases of encapsulated effusion were tuberculous pleurisy, and the clinical data were analysed retrospectively. The maximum upper and lower diameters, right and left diameters, and anterior and posterior diameters of the lesions were measured by ultrasound before and after the operation. The patients′ various biochemical indicators (C-reactive protein, white blood cell count, neutrophil count, erythrocyte sedimentation rate) were detected. The intraoperative and postoperative complications, postoperative outcomes, and postoperative clinical symptoms were recorded.Results:Of the 48 patients, 39 were cured and discharged after negative pressure suction and rotatory excision technique, and 9 patients were cured and discharged after surgical incision and drainage of the lesions. The overall effective rate of negative pressure suction and rotatory excision treatment reached 81.25%, and the average number of days of tube placement was (11.81±7.22) days, and the average number of days of follow-up was (35.77±19.39) days. Compared with preoperative values, the upper and lower diameters, the left and right diameters, and the anterior and posterior diameters of the lesions were all reduced after operation [5.80 (4.95, 7.95)cm vs 8.00 (6.00, 11.82)cm, 4.00 (3.25, 5.00)cm vs 5.85 (4.52, 7.65)cm, 1.80 (1.00, 2.90)cm vs 3.40 (2.50, 6.15)cm, all P<0.01]; and postoperative C-reactive protein, white blood cell count and neutrophil count all decreased (all P<0.05). Before operation there were 31 cases of local swelling, 16 cases of pain, 12 cases of activity limitation, 12 cases of fever, 7 cases of chest tightness, and 6 cases of shortness of breath, and during postoperative follow-up, there were 4 cases of local swelling, 5 cases of pain, and 4 cases of activity limitation. The symptoms of fever, chest tightness, and shortness of breath all disappeared, and there was a statistically significant difference between preoperation and postoperation (all P<0.05). There were no adverse events or complications associated with the intraoperative and postoperative follow-up of negative pressure suction and rotatory excision treatment. Conclusions:Ultrasound-guided percutaneous negative pressure suction and invasive rotatory excision technique for the treatment of complex encapsulated lesions can significantly reduce lesion size, reduce inflammatory response and improve patient symptoms, which is a safe, effective and minimally invasive technique.
		                        		
		                        		
		                        		
		                        	
5.Effects of wearing orthokeratology lens on ocular surface and meibomian gland in children and adolescents of different ages
Yan FANG ; Yan-Jun HU ; Zhi-Gang ZHENG ; Xue-Lian HUA ; Sha-Sha ZHONG ; Li-Ni MAO
International Eye Science 2023;23(9):1544-1549
		                        		
		                        			
		                        			 AIM: To investigate the effect of orthokeratology lens on ocular surface and meibomian gland in children and adolescents of different ages.METHODS: A total of 120 cases(240 eyes)of myopic children and adolescents treated in the optometry clinic of our hospital from December 2020 to February 2021 were retrospectively selected, and they were divided into the orthokeratology group(60 cases, 120 eyes)and the frame glasses group(60 cases, 120 eyes)according to the myopia correction methods. The changes in ocular surface and meibomian gland after wearing glasses were analyzed, and those changes in patients of different ages were compared between the two groups.RESULTS: Corneal curvature decreased, non-invasive tear film break-up time(NIBUT)shortened and meibomian gland score increased at 3, 6, 9 and 12mo in the orthokeratology group after wearing lens, while lower tear meniscus height increased at 6, 9 and 12mo compared with that before wearing lens. In the frame glasses group, the lower tear meniscus height was higher at 6 and 9mo than that before wearing glasses(both P<0.05). At the same time point, the corneal curvature of the orthokeratology group was significantly lower than that of the frame glasses group at all time points, the NIBUT at 3, 9 and 12mo after wearing the lens was shorter than that of the frame glasses group and the meibomian gland scores were higher at 6, 9 and 12mo than those at the same time point in the glasses group(all P<0.05). After wearing lens for 12mo, the corneal curvature of the orthokeratology group at all ages was significantly lower than that of the frame glasses group, the NIBUT of the orthokeratology group at 8 to 12 years old and 13 to 15 years old was significantly lower than that of the frame glasses group, and the meibomian gland score was significantly higher than that of the frame glasses group(all P<0.05).CONCLUSION: Orthokeratology lens may affect the ocular surface and meibomian glands function, and the effects on ocular surface are more pronounced in children and adolescents under 12 years old. Therefore, younger children and adolescents could be prioritized for myopia correction with framed glasses, and then wearing orthokeratology lens when they get older. 
		                        		
		                        		
		                        		
		                        	
7.Prevalence and influencing factors of abnormal spinal curvature in primary and secondary school students in Shandong Province in 2020.
Gao Hui ZHANG ; Liang Xia CHEN ; Xi CHEN ; Zhao Lu LIU ; Lian Long YU ; Shou Juan ZHENG ; Xue Ying DU ; Su Yun LI
Chinese Journal of Preventive Medicine 2023;57(11):1839-1842
		                        		
		                        			
		                        			In 2020, the prevalence of abnormal spinal curvature among 54 079 students in Shandong Province was 1.54%. The multivariate logistic regression model analysis showed that, compared with those in primary school, economically underdeveloped areas, and non-residential schools, students in middle and high schools, economically average areas, and residential schools had a higher risk of abnormal spinal curvature, with OR (95%CI) values of 2.029 (1.662-2.476), 2.746 (2.208-3.416), 2.237 (1.740-2.875) and 2.057 (1.705-2.483), respectively. Compared with those in economically underdeveloped areas, who were underweight, who had seat adjustments≤1 time per academic year, and who had physical education classes≤1 per week, students in economically developed areas, who were normal weight, overweight, and obese, who had seat adjustments≥2 times per academic year, and who had physical education classes 2-3 or≥4 per week, had a lower risk of abnormal spinal curvature, with OR (95%CI) values of 0.690 (0.521-0.915), 0.722 (0.546-0.955), 0.535 (0.389-0.735), 0.383 (0.274-0.535), 0.835 (0.711-0.980), 0.561 (0.474-0.663) and 0.491 (0.315-0.766), respectively.
		                        		
		                        		
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Risk Factors
		                        			;
		                        		
		                        			Prevalence
		                        			;
		                        		
		                        			Spinal Curvatures
		                        			;
		                        		
		                        			Schools
		                        			;
		                        		
		                        			Students
		                        			
		                        		
		                        	
8.Prevalence and influencing factors of abnormal spinal curvature in primary and secondary school students in Shandong Province in 2020.
Gao Hui ZHANG ; Liang Xia CHEN ; Xi CHEN ; Zhao Lu LIU ; Lian Long YU ; Shou Juan ZHENG ; Xue Ying DU ; Su Yun LI
Chinese Journal of Preventive Medicine 2023;57(11):1839-1842
		                        		
		                        			
		                        			In 2020, the prevalence of abnormal spinal curvature among 54 079 students in Shandong Province was 1.54%. The multivariate logistic regression model analysis showed that, compared with those in primary school, economically underdeveloped areas, and non-residential schools, students in middle and high schools, economically average areas, and residential schools had a higher risk of abnormal spinal curvature, with OR (95%CI) values of 2.029 (1.662-2.476), 2.746 (2.208-3.416), 2.237 (1.740-2.875) and 2.057 (1.705-2.483), respectively. Compared with those in economically underdeveloped areas, who were underweight, who had seat adjustments≤1 time per academic year, and who had physical education classes≤1 per week, students in economically developed areas, who were normal weight, overweight, and obese, who had seat adjustments≥2 times per academic year, and who had physical education classes 2-3 or≥4 per week, had a lower risk of abnormal spinal curvature, with OR (95%CI) values of 0.690 (0.521-0.915), 0.722 (0.546-0.955), 0.535 (0.389-0.735), 0.383 (0.274-0.535), 0.835 (0.711-0.980), 0.561 (0.474-0.663) and 0.491 (0.315-0.766), respectively.
		                        		
		                        		
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Risk Factors
		                        			;
		                        		
		                        			Prevalence
		                        			;
		                        		
		                        			Spinal Curvatures
		                        			;
		                        		
		                        			Schools
		                        			;
		                        		
		                        			Students
		                        			
		                        		
		                        	
9.A multicenter epidemiological study of acute bacterial meningitis in children.
Cai Yun WANG ; Hong Mei XU ; Jiao TIAN ; Si Qi HONG ; Gang LIU ; Si Xuan WANG ; Feng GAO ; Jing LIU ; Fu Rong LIU ; Hui YU ; Xia WU ; Bi Quan CHEN ; Fang Fang SHEN ; Guo ZHENG ; Jie YU ; Min SHU ; Lu LIU ; Li Jun DU ; Pei LI ; Zhi Wei XU ; Meng Quan ZHU ; Li Su HUANG ; He Yu HUANG ; Hai Bo LI ; Yuan Yuan HUANG ; Dong WANG ; Fang WU ; Song Ting BAI ; Jing Jing TANG ; Qing Wen SHAN ; Lian Cheng LAN ; Chun Hui ZHU ; Yan XIONG ; Jian Mei TIAN ; Jia Hui WU ; Jian Hua HAO ; Hui Ya ZHAO ; Ai Wei LIN ; Shuang Shuang SONG ; Dao Jiong LIN ; Qiong Hua ZHOU ; Yu Ping GUO ; Jin Zhun WU ; Xiao Qing YANG ; Xin Hua ZHANG ; Ying GUO ; Qing CAO ; Li Juan LUO ; Zhong Bin TAO ; Wen Kai YANG ; Yong Kang ZHOU ; Yuan CHEN ; Li Jie FENG ; Guo Long ZHU ; Yan Hong ZHANG ; Ping XUE ; Xiao Qin LI ; Zheng Zhen TANG ; De Hui ZHANG ; Xue Wen SU ; Zheng Hai QU ; Ying ZHANG ; Shi Yong ZHAO ; Zheng Hong QI ; Lin PANG ; Cai Ying WANG ; Hui Ling DENG ; Xing Lou LIU ; Ying Hu CHEN ; Sainan SHU
Chinese Journal of Pediatrics 2022;60(10):1045-1053
		                        		
		                        			
		                        			Objective: To analyze the clinical epidemiological characteristics including composition of pathogens , clinical characteristics, and disease prognosis acute bacterial meningitis (ABM) in Chinese children. Methods: A retrospective analysis was performed on the clinical and laboratory data of 1 610 children <15 years of age with ABM in 33 tertiary hospitals in China from January 2019 to December 2020. Patients were divided into different groups according to age,<28 days group, 28 days to <3 months group, 3 months to <1 year group, 1-<5 years of age group, 5-<15 years of age group; etiology confirmed group and clinically diagnosed group according to etiology diagnosis. Non-numeric variables were analyzed with the Chi-square test or Fisher's exact test, while non-normal distrituction numeric variables were compared with nonparametric test. Results: Among 1 610 children with ABM, 955 were male and 650 were female (5 cases were not provided with gender information), and the age of onset was 1.5 (0.5, 5.5) months. There were 588 cases age from <28 days, 462 cases age from 28 days to <3 months, 302 cases age from 3 months to <1 year of age group, 156 cases in the 1-<5 years of age and 101 cases in the 5-<15 years of age. The detection rates were 38.8% (95/245) and 31.5% (70/222) of Escherichia coli and 27.8% (68/245) and 35.1% (78/222) of Streptococcus agalactiae in infants younger than 28 days of age and 28 days to 3 months of age; the detection rates of Streptococcus pneumonia, Escherichia coli, and Streptococcus agalactiae were 34.3% (61/178), 14.0% (25/178) and 13.5% (24/178) in the 3 months of age to <1 year of age group; the dominant pathogens were Streptococcus pneumoniae and the detection rate were 67.9% (74/109) and 44.4% (16/36) in the 1-<5 years of age and 5-<15 years of age . There were 9.7% (19/195) strains of Escherichia coli producing ultra-broad-spectrum β-lactamases. The positive rates of cerebrospinal fluid (CSF) culture and blood culture were 32.2% (515/1 598) and 25.0% (400/1 598), while 38.2% (126/330)and 25.3% (21/83) in CSF metagenomics next generation sequencing and Streptococcus pneumoniae antigen detection. There were 4.3% (32/790) cases of which CSF white blood cell counts were normal in etiology confirmed group. Among 1 610 children with ABM, main intracranial imaging complications were subdural effusion and (or) empyema in 349 cases (21.7%), hydrocephalus in 233 cases (14.5%), brain abscess in 178 cases (11.1%), and other cerebrovascular diseases, including encephalomalacia, cerebral infarction, and encephalatrophy, in 174 cases (10.8%). Among the 166 cases (10.3%) with unfavorable outcome, 32 cases (2.0%) died among whom 24 cases died before 1 year of age, and 37 cases (2.3%) had recurrence among whom 25 cases had recurrence within 3 weeks. The incidences of subdural effusion and (or) empyema, brain abscess and ependymitis in the etiology confirmed group were significantly higher than those in the clinically diagnosed group (26.2% (207/790) vs. 17.3% (142/820), 13.0% (103/790) vs. 9.1% (75/820), 4.6% (36/790) vs. 2.7% (22/820), χ2=18.71, 6.20, 4.07, all P<0.05), but there was no significant difference in the unfavorable outcomes, mortility, and recurrence between these 2 groups (all P>0.05). Conclusions: The onset age of ABM in children is usually within 1 year of age, especially <3 months. The common pathogens in infants <3 months of age are Escherichia coli and Streptococcus agalactiae, and the dominant pathogen in infant ≥3 months is Streptococcus pneumoniae. Subdural effusion and (or) empyema and hydrocephalus are common complications. ABM should not be excluded even if CSF white blood cell counts is within normal range. Standardized bacteriological examination should be paid more attention to increase the pathogenic detection rate. Non-culture CSF detection methods may facilitate the pathogenic diagnosis.
		                        		
		                        		
		                        		
		                        			Adolescent
		                        			;
		                        		
		                        			Brain Abscess
		                        			;
		                        		
		                        			Child
		                        			;
		                        		
		                        			Child, Preschool
		                        			;
		                        		
		                        			Escherichia coli
		                        			;
		                        		
		                        			Female
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Hydrocephalus
		                        			;
		                        		
		                        			Infant
		                        			;
		                        		
		                        			Infant, Newborn
		                        			;
		                        		
		                        			Male
		                        			;
		                        		
		                        			Meningitis, Bacterial/epidemiology*
		                        			;
		                        		
		                        			Retrospective Studies
		                        			;
		                        		
		                        			Streptococcus agalactiae
		                        			;
		                        		
		                        			Streptococcus pneumoniae
		                        			;
		                        		
		                        			Subdural Effusion
		                        			;
		                        		
		                        			beta-Lactamases
		                        			
		                        		
		                        	
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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