1.Childhood acute lymphoblastic leukemia with CREBBP gene mutation:a clinical analysis of 14 cases
Xiao-Pei JIA ; An-Na LIAN ; Ding-Ding CUI ; Ye-Qing TAO ; Ping ZHU ; Wen-Jing QI ; Chun-Mei WANG
Chinese Journal of Contemporary Pediatrics 2024;26(11):1211-1217
Objective To investigate the clinical features and prognosis of childhood acute lymphoblastic leukemia (ALL) with CREBBP gene mutation. Methods A retrospective analysis was performed for the clinical data of 14 ALL children with CREBBP gene mutation who were admitted to Children's Hospital of the First Affiliated Hospital of Zhengzhou University from January 2016 to December 2023. Results The ALL patients with CREBBP gene mutation accounted for 1.5% (14/963) among all children diagnosed with ALL during the same period of time,among whom there were 4 boys (29%) and 10 girls (71%),with a median age of 4 years and 3.5 months. All children had an immunological type of B-cell ALL and concurrent mutations in other genes including NRAS,KRAS,ETV6,FLT3,PAX5,SH2B3,CDKN2A,and CDKN2B,and 4 children had karyotype abnormality. All 14 children received induction therapy with the VDLP regimen,with a complete remission (CR) rate of 79% (11/14) after the first course of treatment. Three children experienced bone marrow recurrence alone,with a recurrence rate of 21% (3/14),among whom 1 child achieved CR after blinatumomab therapy and 2 received bridging hematopoietic stem cell transplantation after chemotherapy for recurrence. Among the 14 children,1 died due to treatment discontinuation and 13 achieved disease-free survival. The 5-year overall survival rate was 92%±7%,and the event-free survival rate was 73%±13%. Conclusions ALL with CREBBP gene mutation is more common in girls and has a low induction remission rate and a high recurrence rate,and it is often accompanied by other types of gene mutations and abnormal karyotypes. Most children with recurrence can achieve long-term survival after immunotherapy or hematopoietic stem cell transplantation.
2.Clinical characteristics analysis and prognostic prediction model construction in multiple primary lung cancer based on the SEER database
Linqi WEN ; Shengzhao YANG ; Zhongshuai WANG ; Feng LI ; Yong MA ; Mingchuang ZHU ; Jianhong LIAN
Cancer Research and Clinic 2024;36(6):446-453
Objective:To explore the clinical characteristics and prognostic influencing factors of multiple primary lung cancer (MPLC), and to construct a prognostic prediction model.Methods:The clinical data and prognostic information of MPLC patients diagnosed by pathological examination included in the Surveillance, Epidemiology, and End Results (SEER) database from January 2010 to December 2020 were retrospectively analyzed. Patients were randomly divided into training and validation sets according to a 7:3 ratio using R software. Survival curves were plotted by using the Kaplan-Meier method and log-rank test was used for comparison between groups. The independent influencing factors of overall survival (OS) of MPLC patients in the training set were screened using univariate and multivariate Cox proportional hazards models, and accordingly, the nomogram predicting the survival rate of patients at 3, 5 and 8 years were plotted. In the training and validation sets, using the actual survival as the gold standard, the receiver operating characteristic (ROC) curves of the constructed models for predicting the patients' 3-, 5- and 8-year OS rates were plotted, the area under the curve (AUC) was obtained, and C-index of the model was analyzed by using R software. The calibration curves of 3-, 5- and 8-year OS rates predicted by the models and the actual OS rates were plotted.Results:A total of 5 495 MPLC patients were included, 3 846 in the training set and 1 649 in the validation set. The differences in the composition of patients of different ages and AJCC stages between the training and validation sets were statistically significant (both P < 0.05), and the differences in the comparison of other clinicopathological characteristics were not statistically significant (all P > 0.05). The results of multivariate Cox regression analysis showed that males (compared with females, HR = 1.256, 95% CI: 1.144-1.379, P < 0.001), age ≥ 70 years old (compared with 50-59 years old, HR = 1.201, 95% CI: 1.030-1.400, P = 0.019), FPLC with pathological types of squamous cell carcinoma or other types (compared with adenocarcinoma, HR = 1.275, 95% CI: 1.137-1.431, P < 0.001; HR = 1.208, 95% CI: 1.041-1.403, P = 0.013), and SPLC with pathological types of squamous cell carcinoma, small cell lung carcinoma, or other types (compared with adenocarcinoma, HR = 1.270, 95% CI: 1.121-1.440, P < 0.001; HR = 1.978, 95% CI: 1.642-2.384, P < 0.001; HR = 1.246, 95% CI: 1.090-1.424, P = 0.001), and AJCC stage Ⅲ and Ⅳ (compared with stage Ⅰ, HR = 1.645, 95% CI: 1.447-1.869, P < 0.001; HR = 2.078, 95% CI: 1.669-2.587, P < 0.001), FPLC without operation (compared with operation, HR = 1.263, 95% CI: 1.038-1.536, P = 0.020), SPLC without operation (operation vs. no operation, HR = 0.680, 95% CI: 0.579-0.799, P < 0.001), FPLC without lymph node dissection or with clearance of 1-3 regional lymph nodes (compared with clearance of ≥4, HR = 1.225, 95% CI: 1.016-1.477, P = 0.034; HR = 1.314, 95% CI: 1.103-1.566, P = 0.002), FPLC with maximum diameter 3-5 cm or >5 cm (compared with <3 cm, HR = 1.181, 95% CI: 1.053-1.324, P = 0.005; HR = 1.232, 95% CI: 1.069-1.420, P = 0.004), and SPLC with maximum diameter 3-5 cm or >5 cm (compared with <3 cm, HR = 1.560, 95% CI: 1.362-1.786, P < 0.001; HR = 1.727, 95% CI: 1.451-2.054, P < 0.001), and FPLC without chemotherapy (chemotherapy vs. no chemotherapy or unknown, HR = 0.744, 95% CI: 0.655-0.845, P < 0.001) were the independent risk factors of patients' poor OS (all P < 0.05). The results of Kaplan-Meier survival analysis showed that the OS of patients with different gender, race, age, two tumor locations, AJCC staging, pathological type of two lung tumors, maximum diameter of two tumors, and whether two tumors were treated surgically or not, and whether two tumors were treated with chemotherapy or not in the training set were compared, and the differences were all statistically significant (all P < 0.05). Based on the independent factors affecting the OS of MPLC patients screened by the results of multivariate Cox regression analysis, nomogram predicting the 3-, 5- and 8-year OS rates of MPLC were plotted. The results of ROC curve analysis showed that the C-index of the training set's nomogram was 0.679 (95% CI: 0.649-0.701), and the AUC values for predicting the 3-, 5- and 8-year OS rates were 0.601, 0.595 and 0.586, respectively; the C-index of the validation set was 0.678 (95% CI: 0.633-0.720), and the AUC values for predicting 3-, 5- and 8-year OS rates were 0.643, 0.631 and 0.626, respectively. The calibration curves showed that the 3-, 5- and 8-year OS rates of patients predicted by the nomogram models in both the training and validation sets were in good agreement with the actual results with a high goodness-of-fit. Conclusions:The established prognostic model has good predictive value and can effectively assess the prognosis of patients.
3. Inhibition of MAPK pathway-induced apoptosis in renal cancer cells by ethanol extraction of Dysosma versipellis
Gan-Hua YOU ; Lian HE ; Kai LI ; Meng YANG ; Zhou WEN ; Wang-Pei LIU ; Jian-Guo ZHU
Chinese Pharmacological Bulletin 2023;39(12):2305-2313
Aim To explore the effects of ethanol extraction of Dysosma versipellis on the proliferation and apoptosis of renal clear cell carcinoma OS-RC-2 cells and the underlying mechanism. Methods After treated with Dysosma versipellis, the proliferation of OS-RC-2 cells was detected by the CCK-8 assay and clone formation assay. The migration rate of cells was detected by thewound healing assay and Transwell assay. The level of ROS was detected by the reactive oxygen detection kit. The common targets between Dysosma versipellis and ROS were obtained by the network pharmacology. The above common targets were analyzed by KEGG. The apoptosis rate and cell cycle were detected by the flow cytometry, and the key proteins of MAPK signaling pathway and the levels of apoptosis related proteins were measured by Western blot. Results The results showed that Dysosma versipellis significantly inhibited the cell viability and migration ability of 0S-RC-2 cells, and up-regulated the level of ROS. Network pharmacology analysis showed a total of 165 common targets between Dysosma versipellis and ROS. KEGG analysis of the common targets revealed that there were significant changes in the MAPK signaling pathway. The results of Western blot showed that after treated with Dysosma versipellis, the protein level of JNK and the ratio of p-ERK/ERK were down-regulated. Besides, the protein level of caspase-9 and Bcl-2 declined, while the levels of cleaved caspase-9 and Bax were promoted. The flow cytometry results showed that Dysosma versipellis could significantly promote the apoptosis rate,down-regulate the cells in Gl-phase,while up-regulate the cells in G2/M-phase. The results of the rescue experiment showed that co-administration of NAC and Dysosma versipellis could significantly reverse the cell viability and apoptosis rate, the level of apop-totic related proteins, as well as the protein levels of MAPK pathway,when compared to treated with Dysosma versipellis alone in OS-RC-2. Conclusion In summary, Dysosma versipellis may inhibit the MAPK signaling pathway via the changes in ROS,further promoting apoptosis rate and decline cell proliferation in OS-RC-2 cell line.
4.Evaluation of ICUs and weight of quality control indicators: an exploratory study based on Chinese ICU quality data from 2015 to 2020.
Longxiang SU ; Xudong MA ; Sifa GAO ; Zhi YIN ; Yujie CHEN ; Wenhu WANG ; Huaiwu HE ; Wei DU ; Yaoda HU ; Dandan MA ; Feng ZHANG ; Wen ZHU ; Xiaoyang MENG ; Guoqiang SUN ; Lian MA ; Huizhen JIANG ; Guangliang SHAN ; Dawei LIU ; Xiang ZHOU
Frontiers of Medicine 2023;17(4):675-684
This study aimed to explore key quality control factors that affected the prognosis of intensive care unit (ICU) patients in Chinese mainland over six years (2015-2020). The data for this study were from 31 provincial and municipal hospitals (3425 hospital ICUs) and included 2 110 685 ICU patients, for a total of 27 607 376 ICU hospitalization days. We found that 15 initially established quality control indicators were good predictors of patient prognosis, including percentage of ICU patients out of all inpatients (%), percentage of ICU bed occupancy of total inpatient bed occupancy (%), percentage of all ICU inpatients with an APACHE II score ⩾15 (%), three-hour (surviving sepsis campaign) SSC bundle compliance (%), six-hour SSC bundle compliance (%), rate of microbe detection before antibiotics (%), percentage of drug deep venous thrombosis (DVT) prophylaxis (%), percentage of unplanned endotracheal extubations (%), percentage of patients reintubated within 48 hours (%), unplanned transfers to the ICU (%), 48-h ICU readmission rate (%), ventilator associated pneumonia (VAP) (per 1000 ventilator days), catheter related blood stream infection (CRBSI) (per 1000 catheter days), catheter-associated urinary tract infections (CAUTI) (per 1000 catheter days), in-hospital mortality (%). When exploratory factor analysis was applied, the 15 indicators were divided into 6 core elements that varied in weight regarding quality evaluation: nosocomial infection management (21.35%), compliance with the Surviving Sepsis Campaign guidelines (17.97%), ICU resources (17.46%), airway management (15.53%), prevention of deep-vein thrombosis (14.07%), and severity of patient condition (13.61%). Based on the different weights of the core elements associated with the 15 indicators, we developed an integrated quality scoring system defined as F score=21.35%xnosocomial infection management + 17.97%xcompliance with SSC guidelines + 17.46%×ICU resources + 15.53%×airway management + 14.07%×DVT prevention + 13.61%×severity of patient condition. This evidence-based quality scoring system will help in assessing the key elements of quality management and establish a foundation for further optimization of the quality control indicator system.
Humans
;
China/epidemiology*
;
Cross Infection/epidemiology*
;
Intensive Care Units/statistics & numerical data*
;
Quality Control
;
Quality Indicators, Health Care/statistics & numerical data*
;
Sepsis/therapy*
;
East Asian People/statistics & numerical data*
5.Rare Manifestations of Common Diseases: Middle-Aged Male Polyuria-Headache-Inflammatory Granulomatous Lesions
Yuxing ZHAO ; Lian DUAN ; Wei LYU ; Yong YAO ; Hui YOU ; Wen ZHANG ; Jin MA ; Xinxin MAO ; Huijuan ZHU
JOURNAL OF RARE DISEASES 2023;2(3):359-364
A middle-aged man was presented with poor appetite, polyuria, polydrpsia, and headache. A sellar mass was found, along with total pituitary hypofunction and visual field defect. A biopsy of the lesion via the trans-sphenoidal approach showed inflammatory changes and granuloma formation. However, repeated cerebrospinal fluid and pathogenic examination of the pathological tissue showed no positive indications. The initial diagnosis considered autoimmune hypophysitis, and treatment of glucocorticoids combined with immunosuppressants was administered, which led to a temporary shrinkage of the lesion, but it gradually enlarged subsequently. After multidisciplinary discussion, a high possibility of pituitary tuberculosis infection was decided upon. After standardized anti-tuberculosis treatment was initiated, the lesion reduced noticeably and the patient′s condition improved. Pituitary tuberculosis infection is incredibly rare and extremely easy to misdiagnose. This case was diagnosed and treated in a timely and effective manner through a multidisciplinary approach, highlighting the importance of such an approach in dealing with rare diseases.
6.Laparoscopic versus open pelvic exenteration for locally advanced rectal cancer: analysis of short- and long-term effects.
Jian Qiang TANG ; Jin Zhu ZHANG ; Shi Wen MEI ; Gang HU ; Yuan Lian WAN ; Xin WANG ; Xi Shan WANG
Chinese Journal of Gastrointestinal Surgery 2023;26(3):253-259
Objective: To explore the feasibility, safety, and short- and long-term efficacy of laparoscopic pelvic exenteration (LPE) in treating locally advanced rectal cancer. Methods: The clinical data of 173 patients who had undergone pelvic exenteration (PE) for locally advanced rectal cancer that had been shown by preoperative imaging or intraoperative exploration to have invaded beyond the mesorectal excision plane and adjacent organs in the Cancer Hospital, Chinese Academy of Medical Sciences (n=64) and Peking University First Hospital (n=109) from 2010 January to 2021 December were collected retrospectively. Laparoscopic PE (LPE) had been performed on 82 of these patients and open PE (OPE) on 91. Short- and long-term outcomes (1-, 3-, and 5-year overall and disease-free survival and 1- and 3-year cumulative local recurrence rates) were compared between these groups. Results: The only statistically significant difference in baseline data between the two groups (P>0.05) was administration of neoadjuvant therapy. Compared with OPE, LPE had a significantly shorter operative time (319.3±129.3 minutes versus 417.3±155.0 minutes, t=4.531, P<0.001) and less intraoperative blood loss (175 [20-2000] ml vs. 500 [20-4500] ml, U=2206.500, P<0.001). The R0 resection rates were 98.8% and 94.5%, respectively (χ2=2.355, P=0.214). At 18.3% (15/82), and the incidence of perioperative complications was lower in the LPE group than in the OPE group (37.4% [34/91], χ2=7.727, P=0.005). The rates of surgical site infection were 7.3% (6/82) and 23.1% (21/91) in the LPE and OPE group, respectively (χ2=8.134, P=0.004). The rates of abdominal wound infection were 0 and 12.1% (11/91) (χ2=10.585, P=0.001), respectively, and of urinary tract infection 0 and 6.6% (6/91) (χ2=5.601, P=0.030), respectively. Postoperative hospital stay was shorter in the LPE than OPE group (12 [4-60] days vs. 15 [7-87] days, U=2498.000, P<0.001). The median follow-up time was 40 (2-88) months in the LPE group and 59 (1-130) months in the OPE group. The 1-, 3-, and 5-year overall survival rates were 91.3%, 76.0%, and 62.5%, respectively, in the LPE group, and 91.2%, 68.9%, and 57.6%, respectively, in the OPE group. The 1, 3, and 5-year disease-free survival rates were 82.8%, 64.9%, and 59.7%, respectively, in the LPE group and 76.9%, 57.8%, and 52.7%, respectively, in the OPE group. The 1- and 3-year cumulative local recurrence rates were 5.1% and 14.1%, respectively, in the LPE group and 8.0% and 15.1%, respectively, in the OPE group (both P>0.05). Conclusions: In locally advanced rectal cancer patients, LPE is associated with shorter operative time, less intraoperative blood loss, fewer perioperative complications, and shorter hospital stay compared with OPE. It is safe and feasible without compromising oncological effect.
Humans
;
Pelvic Exenteration/methods*
;
Retrospective Studies
;
Treatment Outcome
;
Blood Loss, Surgical
;
Laparoscopy/methods*
;
Rectal Neoplasms/surgery*
7.Hashimoto's encephalopathy presenting with isolated cerebellar ataxia in 13 children.
Yin Ting LIAO ; Wen Xiong CHEN ; Chi HOU ; Hai Xia ZHU ; Lian Feng CHEN ; Yi Ru ZENG ; Wen Xiao WU ; Hui Ci LIANG ; Xiao Jing LI
Chinese Journal of Pediatrics 2022;60(1):46-50
Objective: To analyze the clinical characteristics, treatment and prognosis of Hashimoto's encephalopathy presenting with isolated cerebellar ataxia in children. Methods: A retrospective analysis was performed on the clinical features, laboratory tests, neuroelectrophysiological examination, imaging, treatment and outcomes of 13 patients with Hashimoto's encephalopathy presenting with isolated cerebellar ataxia, who were admitted to the Department of Pediatric Neurology of Guangzhou Women and Children's Medical Center from January 2016 to May 2021. Results: Among the 13 cases, 6 were males and 7 were females. The onset age was 2.6 (2.0,3.3) years, 9 children had precursor infection or vaccination before the first course of disease. All the 13 children had gait abnormalities or unsteady sitting, 10 had intentional tremor, 6 had dysarthria, 3 had body tremor, 2 had nystagmus, 3 had fatigue, 3 had hypotonia, 2 had vomiting and 1 had irritability. Thyroglobulin antibody (TgAb) was 500.0 (298.9,587.2) kU/L and thyroid peroxidase antibody (TPOAb) was 621.9 (449.6,869.4) kU/L in 13 cases. Autoantibodies were positive in 9 cases, and cerebrospinal fluid leukocytosis was seen in 4 cases. Regarding electroencephalography result, 4 cases had background slowing and 1 case had occasional sharp waves. Among the 3 patients who had relapses, 1 had cerebellar atrophy shown on cranial magnetic resonance imaging (MRI) during the recurrence. All the patients received intravenous immunoglobulin (IVIG) and intensive methylprednisolone therapy during the first onset, followed by the disappearance of the symptoms, 1 patient had repeated episodes which was decreased after immunosuppressive treatment with Rituximab.Followed up for 25.0 (22.5,33.3) months after the last episode, 12 achieved complete remission and 1 had a wide base gait. Conclusions: Trunk ataxia is the common symptom of Hashimoto's encephalopathy presenting with isolated cerebellar ataxia in children.Children with cerebellar ataxia should be tested for TgAb and TPOAb to detect Hashimoto's encephalopathy, avoiding missed diagnosis and treatment delays; IVIG and intensive steroid therapy is effective, and immunosuppressive therapy for patients with multiple relapses could reduce the recurrence.
Autoantibodies
;
Cerebellar Ataxia
;
Child
;
Encephalitis
;
Female
;
Hashimoto Disease
;
Humans
;
Male
;
Retrospective Studies
8.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
9.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
10.The value of circulating miR-143 level in predicting early response to concurrent chemoradiotherapy in cervical cancer patients
Cuiyun CHEN ; Meiyun WANG ; Qingyao ZHU ; Fangfang FU ; Xiaodong LI ; Zejun WEN ; Shaocheng ZHU ; Jie LIU ; Feifei LIANG ; Lixia LIAN
Chinese Journal of Radiation Oncology 2021;30(9):910-916
Objective:To investigate the value of serum miR-143 level combined with MRI in predicting the early response to concurrent chemoradiotherapy (CCRT) in cervical cancer.Methods:A total of 85 patients with pathologically confirmed cervical cancer underwent conventional MRI, intravoxel incoherent motion diffusion-weighted imaging (IVIM-DWI), and dynamic contrast-enhanced MRI (DCE-MRI) before CCRT. The biopsy tissues and serum samples were collected. The differential expression of miRNA in the biopsy tissues was determined by microarray chip. The expression level of miR-143 in the serum samples was analyzed by qRT-PCR. All patients were divided into the non-residual and residual tumor groups according to post-treatment MRI. Pre-treatment clinical factors, MRI parameters and miR-143 between two groups were statistically analyzed by the univariate and multivariate analyses. The optimal thresholds and predictive performance for post-treatment incidence of residual tumors were estimated by drawing the ROC curve.Results:At one month after CCRT, there were 52 patients in the non-residual tumor group and 33 patients in the residual tumor group. In the residual tumor group, pre-treatment FIGO staging, apparent diffusion coefficient (ADC), D and V e were significantly higher (all P<0.05), whereas K trans value was significantly lower ( P<0.001) when compared to those in the non-residual tumor group. The miRNA array analysis showed that there were 16 miRNAs with differential expression levels between two groups (all P<0.05). Among them, the increase of miR-143 was the most significant in the residual tumor group. Compared with the residual tumor group, the expression level of serum miR-143 was significantly down-regulated in the non-residual tumor group ( P=0.002). Compared with the SiHa cells, the expression level of miR-143 in the SiHa-R cells was significantly up-regulated ( P<0.05). Multivariate analysis showed that only miR-143, D, K trans and V e were the independent prognostic factors. The combination of multi-parametric MRI and miR-143 exhibited the highest predictive performance (AUC=0.975), with a sensitivity of 84.8% and a specificity of 96.2%. Conclusion:The combination of multi-parametric MRI with miR-143 further improves the predictive performance for residual tumors after CCRT, which contributes to the personalized treatment of cervical cancer.

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