1.Clinical prognosis analysis of 177 cases bladder adenocarcinoma in a single center in China and comparison with SEER database
Tianxiang ZHANG ; Lu ZHANG ; Guoliang YANG ; Lianhua ZHANG ; Ming CAO ; Di JIN ; Ruiyun ZHANG ; Guanglei ZHUANG ; Yiran HUANG ; Wei XUE ; Haige CHEN
Chinese Journal of Urology 2025;46(3):166-172
Objective:To investigate the clinical and pathological characteristics, prognostic factors, and treatment outcomes of bladder adenocarcinoma.Methods:The data of 177 bladder adenocarcinoma patients treated at Renji Hospital, Shanghai Jiaotong University School of Medicine from January 2003 to December 2023, and 2 687 bladder adenocarcinoma patients from the SEER database (2000—2021) were reviewed retrospectively. The clinicopathological and prognostic characteristics were compared between the two cohorts. Patients with urachal adenocarcinoma or primary bladder adenocarcinoma were included, while metastatic bladder adenocarcinoma from other sites and urothelial carcinoma with glandular components were excluded. The Chi-square test was used for comparison of categorical data, and propensity score matching (1∶1) was applied to match baseline data between the Renji and SEER cohorts. Kaplan-Meier survival curves were generated, and log-rank tests were used for comparisons. Univariate and multivariate Cox regression analyses were performed using the survival R package, with P-values calculated via Wald tests. Results:The proportion of localized bladder adenocarcinoma was significantly higher in the Renji cohort than in the SEER cohort [61.0% (108/177) vs. 19.4% (521/2 687), P<0.001], and mucinous adenocarcinoma was more common in Renji cohort [33.3% (59/177) vs. 22.6% (607/2 687), P<0.001]. After matching for baseline factors, including SEER stage and pathological grade, survival analysis revealed that the Renji cohort patients had slightly better survival compared to the SEER cohort [median survival: 55.4 (24.1, 196.2) months vs. 39.2 (13.6, 137.4)months, P=0.033]. Multivariate Cox analysis identified SEER stage [Renji cohort: HR=3.83 (95% CI 1.62-9.07), P=0.002; SEER cohort: HR=3.67 (95% CI 3.13-4.31), P<0.001] and pathological grade [Renji cohort: HR = 2.76 (95% CI 1.54-4.95), P=0.001; SEER cohort: HR=1.46 (95% CI 1.29-1.65), P<0.001] as independent prognostic factors. In the Renji cohort, no significant differences were observed in the median progression-free survival [40.1 (19.5, 91.6) months vs. 40.9 (12.8, not reached)months, P=0.976] and overall survival [79.3 (37.1, 195.8) months vs. 53.9 (16.4, 129.5)months, P=0.374] between patients receiving adjuvant chemotherapy and those not receiving it. However, among patients with lymph node-positive bladder adenocarcinoma, adjuvant chemotherapy significantly improved both progression-free survival [40.1 (38.2, 75.4) months vs. 12.2 (3.1, 12.2)months, P=0.004] and overall survival [68.2 (46.2, 84.5)months vs. 28.1 (4.3, 28.3)months, P=0.006]. Conclusions:Bladder adenocarcinoma is rare and associated with poor prognosis. Compared to the SEER cohort, Renji cohort patients had more localized disease, with no significant differences in other features. SEER stage and pathological grade were independent prognostic factors in both cohorts. Lymph node-positive bladder adenocarcinoma patients in the Renji cohort benefited significantly from adjuvant chemotherapy.
2.Logistics regression analysis of plastic bronchitis in children with mycoplasma pneumoniae infection
Fen OU ; Taoyi YANG ; Guanglei CHEN ; Hongxia LI ; Pingping LI
Journal of Public Health and Preventive Medicine 2025;36(1):160-163
Objective To analyze the influencing factors of plastic bronchitis in children with Mycoplasma pneumoniae infection and put forward targeted prevention suggestions. Methods The clinical data of children with Mycoplasma pneumoniae infection who were admitted to Chengdu Third People's Hospital from September 2022 to February 2024 were retrospectively analyzed . According to whether plastic bronchitis occurred, they were divided into plastic group (n=118) and non-plastic group (n=184), and the differences between the two groups were compared and analyzed. Univariate and multivariate logistics regression analysis equations were used to analyze the independent influencing factors of plastic bronchitis in children with mycoplasma pneumoniae infection. Results Among the 302 children with Mycoplasma pneumoniae infection , 118 cases were diagnosed with plastic bronchitis. Analysis showed that the children’s age, duration of fever, hospital stay, pleural effusion rate, number of bronchoscopic lavage, allergy history, endoscopic mucosal erosion rate, WBC, NE%, LY%, CRP, LDH, PCT and D-D were the single factors influencing the occurrence of plastic bronchitis in children with mycoplasma pneumoniae infection. Binary logistics regression analysis revealed that age (OR=2.137, P=0.033, 95% CI: 1.132-16.603), allergy history (OR=3.028, P=0.014, 95% CI: 1.261-864), NE% (OR=2.395, P=0.031, 95% CI: 1.087-5.274), CRP (OR=3.864, P=0.004, 95% CI: 1.563-3.864), PCT (OR=4.125, P=0.001, 95% CI: 1.793-3.864), and D-D (OR=3.920, P=0.002, 95% CI: 1.632-3.864) were independent risk factors for plastic bronchitis in children with mycoplasma pneumoniae infection (P<0.05). Conclusion Age, allergy history, NE%, CRP, PCT and D-D are independent risk factors for plastic bronchitis in children with mycoplasma pneumoniae infection . It is necessary to take clinical intervention measures to reduce the occurrence risk.
3.Clinical prognosis analysis of 177 cases bladder adenocarcinoma in a single center in China and comparison with SEER database
Tianxiang ZHANG ; Lu ZHANG ; Guoliang YANG ; Lianhua ZHANG ; Ming CAO ; Di JIN ; Ruiyun ZHANG ; Guanglei ZHUANG ; Yiran HUANG ; Wei XUE ; Haige CHEN
Chinese Journal of Urology 2025;46(3):166-172
Objective:To investigate the clinical and pathological characteristics, prognostic factors, and treatment outcomes of bladder adenocarcinoma.Methods:The data of 177 bladder adenocarcinoma patients treated at Renji Hospital, Shanghai Jiaotong University School of Medicine from January 2003 to December 2023, and 2 687 bladder adenocarcinoma patients from the SEER database (2000—2021) were reviewed retrospectively. The clinicopathological and prognostic characteristics were compared between the two cohorts. Patients with urachal adenocarcinoma or primary bladder adenocarcinoma were included, while metastatic bladder adenocarcinoma from other sites and urothelial carcinoma with glandular components were excluded. The Chi-square test was used for comparison of categorical data, and propensity score matching (1∶1) was applied to match baseline data between the Renji and SEER cohorts. Kaplan-Meier survival curves were generated, and log-rank tests were used for comparisons. Univariate and multivariate Cox regression analyses were performed using the survival R package, with P-values calculated via Wald tests. Results:The proportion of localized bladder adenocarcinoma was significantly higher in the Renji cohort than in the SEER cohort [61.0% (108/177) vs. 19.4% (521/2 687), P<0.001], and mucinous adenocarcinoma was more common in Renji cohort [33.3% (59/177) vs. 22.6% (607/2 687), P<0.001]. After matching for baseline factors, including SEER stage and pathological grade, survival analysis revealed that the Renji cohort patients had slightly better survival compared to the SEER cohort [median survival: 55.4 (24.1, 196.2) months vs. 39.2 (13.6, 137.4)months, P=0.033]. Multivariate Cox analysis identified SEER stage [Renji cohort: HR=3.83 (95% CI 1.62-9.07), P=0.002; SEER cohort: HR=3.67 (95% CI 3.13-4.31), P<0.001] and pathological grade [Renji cohort: HR = 2.76 (95% CI 1.54-4.95), P=0.001; SEER cohort: HR=1.46 (95% CI 1.29-1.65), P<0.001] as independent prognostic factors. In the Renji cohort, no significant differences were observed in the median progression-free survival [40.1 (19.5, 91.6) months vs. 40.9 (12.8, not reached)months, P=0.976] and overall survival [79.3 (37.1, 195.8) months vs. 53.9 (16.4, 129.5)months, P=0.374] between patients receiving adjuvant chemotherapy and those not receiving it. However, among patients with lymph node-positive bladder adenocarcinoma, adjuvant chemotherapy significantly improved both progression-free survival [40.1 (38.2, 75.4) months vs. 12.2 (3.1, 12.2)months, P=0.004] and overall survival [68.2 (46.2, 84.5)months vs. 28.1 (4.3, 28.3)months, P=0.006]. Conclusions:Bladder adenocarcinoma is rare and associated with poor prognosis. Compared to the SEER cohort, Renji cohort patients had more localized disease, with no significant differences in other features. SEER stage and pathological grade were independent prognostic factors in both cohorts. Lymph node-positive bladder adenocarcinoma patients in the Renji cohort benefited significantly from adjuvant chemotherapy.
4.Functional characterization of seven terpene synthases from Ophiopogon japonicus via engineered Escherichia coli
Wen XU ; Qing MA ; Tong CHEN ; Haiyan ZHANG ; Guanglei MA ; Sibongile MAFU ; Juan GUO ; Xiaohui FAN ; Guanghong CUI ; Baolong JIN
Science of Traditional Chinese Medicine 2024;2(4):312-318
Background: Ophiopogon japonicus (L.f) Ker-Gawl. growing in Zhejiang is recognized as the Dao-di medicinal herb for the production of Ophiopogonis Radix. Borneol-7-O-[β-D-apiofuranosyl-(1→6)]-β-D-glucopyranoside, a prominent pharmacologically active compound, serves as a marker distinguishing O. japonicus in Zhejiang from those in other geographical areas. It is synthesized from borneol through glycosylation, with terpene synthase (TPS) being the critical enzyme catalyzing the conversion of terpene precursors into borneol. Objective: The aim of the study was to define key genes involved in biosynthesis of borneol in O. japonicus. Methods: The candidate terpene synthase genes were identified from the root and leaf transcriptome data of O. japonicus in Zhejiang and the functions of these enzymes were identified using engineered Escherichia coli. Results: This study developed a rapid expression system for monoterpene and sesquiterpene synthases based on engineered E. coli. Seven terpene synthase genes (OjTPS1 to OjTPS7) were identified in different terpene synthase subfamilies, including 2 from TPS-a, 4 from TPS-b, and 1 from TPS-g. Biochemical analysis using an engineered system E. coli demonstrated that all the 7 terpene synthases produced monoterpenes, and OjTPS3, OjTPS5, and OjTPS6 also yielded sesquiterpenes. Conclusions: These 7 terpene synthases produced 13 monoterpenes and 8 sesquiterpenes. Notably, OjTPS1 produced borneol establishing the groundwork for elucidating the biosynthetic pathways of borneol-7-O-[β-D-apiofuranosyl-(1→6)]-β-D-glucopyranoside and other volatile oil components.
5.Investigation of hyperuricemia in aircrew and analysis of the correlation with other biochemical indexes
Chang LIU ; Yingnan CHEN ; Xue GUAN ; Dan YANG ; Songnan CHEN ; Guanglei CHEN
Chinese Journal of Aerospace Medicine 2024;35(2):115-119
Objective:To provide references for the prevention and treatment of hyperuricemia (HUA) in aircrews by investigating the prevalence of HUA in aircrews and analyzing the correlation between HUA and other biochemical indicators.Methods:The physical examination data of male aircrews who participated in physical examination in Beidaihe Rehabilitation and Recuperation Center of PLA from 2020 to 2022 were retrospectively analyzed. According to the year, they were divided into 2020, 2021 and 2022 groups. According to the age, they were divided into 20-29, 30-39, 40-49 and 50-59 years groups. The prevalence of HUA among different years and age groups were compared and analyzed. The subjects were divided into HUA group and non-HUA group according to whether they had HUA. The differences of physical examination indexes were compared between 2 groups, and the potential effects of other biochemical indexes on HUA were analyzed by multivariate Logistic regression.Results:A total of 2 365 aircrews were enrolled. Eight hundred and sixty-six aircrews were diagnosed as HUA, accounting for 36.62%. The prevalence rate increased year by year, and the difference was statistically significant ( χ2=6.70, P=0.010). There was no significant difference in prevalence rate among different age groups ( P>0.05). There were significant differences in creatinine ( t=9.40, P<0.001), serum uric acid ( t=59.66, P<0.001), urea nitrogen ( t=4.60, P<0.001), direct bilirubin ( Z=3.40, P=0.001), alanine aminotransferase ( Z=7.59, P<0.001), low density lipoprotein cholesterol ( t=5.89, P<0.001), triglyceride ( Z=8.02, P<0.001) and total cholesterol ( t=6.79, P<0.001) between HUA group and non-HUA group. Multivariate Logistic regression analysis showed that increased alanine aminotransferase ( OR=1.014, P<0.001), urea nitrogen ( OR=1.091, P<0.001), creatinine ( OR=1.038, P<0.001), and triglyceride ( OR=1.164, P=0.001) level were the risk factors for HUA. Conclusions:The prevalence of HUA in aircrew is increasing year by year. Alanine aminotransferase, urea nitrogen, creatinine and triglyceride are the risk factors for HUA. It is suggested that attention should be paid to the increasing trend of HUA in aircrews year by year, to the impact of abnormal liver and kidney function on metabolism and blood lipid levels, and early intervention measures should be taken for related risk factors.
6.Effect of dexmedetomidine combined with esketamine on the quality of postoperative recovery in pa-tients undergoing laparoscopic gastric volume reduction surgery
Lili CHEN ; Jinyan FAN ; Chuanwu ZHANG ; Zhen'ang MENG ; Guanglei WANG
The Journal of Clinical Anesthesiology 2024;40(8):836-841
Objective To investigate the effect of dexmedetomidine combined with esketamine on the quality of postoperative recovery in patients undergoing laparoscopic gastric volume reduction surgery.Methods A total of 136 patients undergoing laparoscopic gastric volume reduction surgery,including 41 males and 95 females,aged 18-64 years,BMI 30-45 kg/m2,ASA physical status Ⅱ or Ⅲ,were random-ly divided into four groups:dexmedetomidine combined with esketamine group(group DE),esketamine group(group E),dexmedetomidine group(group D),and control group(group C),34 patients in each group.In groups DE and D,a loading dose of dexmedetomidine 0.5 μg/kg was infused intravenously over 10 minutes before induction,followed by a continuous infusion of 0.4 μg·kg-1·h-1 until 40 minutes before the end of surgery.In groups DE and E,a loading dose of esketamine 0.5 mg/kg was injected intra-venously at induction,followed by a continuous infusion of 0.1 mg·kg-1·h-1 until 40 minutes before the end of surgery.Equal volumes of normal saline were given to group C at the same time points.The 40-item quality of recovery scores(QoR-40)24 hours before surgery and 24 hours after surgery were recorded.The dosage of intraoperative propofol and remifentanil,the dosage of dezocine within 24 hours after surgery,ex-tubation time after surgery,the time of first getting out of bed and the time of first anal exhaust after surgery were recorded.The resting visual analogue scale(VAS)pain scores were recorded at the moment of extuba-tion,2,6,12,and 24 hours after surgery.The occurrence of postoperative adverse reactions such as nausea and vomiting,agitation,hypoxemia,and pneumonia were recorded.Results Compared with group C,the QoR-40 scores in groups DE,E,and D were significantly increased 24 hours after surgery(P<0.05),the dosage of intraoperative propofol and remifentanil,the dosage of dezocine within 24 hours after surgery were significantly reduced,the time of first getting out of bed and the time of first anal exhaust after surgery were significantly shortened in group DE(P<0.05),the resting VAS pain scores at the moment of extubation,2,6,and 12 hours after surgery were significantly decreased in groups DE and E(P<0.05),the resting VAS pain scores at the moment of extubation and 2 hours after surgery were significantly decreased in group D(P<0.05).Compared with group D,the QoR-40 scores were significantly increased 24 hours after sur-gery,the dosage of intraoperative propofol was significantly reduced,and the resting VAS pain scores 2,6,and 12 hours after surgery were significantly decreased in group DE(P<0.05).Compared with group E,the QoR-40 scores were significantly increased 24 hours after surgery,the dosage of intraoperative propofol was significantly reduced,and the resting VAS pain scores 2,6 hours after surgery were significantly de-creased in group DE(P<0.05).There were no statistically differences in resting VAS pain scores 24 hours after surgery,and the occurrence of postoperative adverse reactions among the four groups.Conclusion Dexmedetomidine combined with esketamine relieves postoperative pain,enhances the quality of postoper-ative recovery,and promotes rapid rehabilitation in patients undergoing laparoscopic gastric volume reduction surgery.
7.Effect of nalbuphine hydrochloride combined with dexmedetomidine on post-operative recovery quality and pain in patients undergoing laparoscopic bariatric surgery
Jinyan FAN ; Lili CHEN ; Su LIU ; Ch-Uanwu ZHANG ; Zhen′ang MENG ; Guanglei WANG
The Journal of Practical Medicine 2024;40(7):996-1001
Objective To investigate the effects of nalbuphine combined with dexmedetomidine on postop-erative recovery quality and pain in patients who undergoing laparoscopic bariatric surgery.Methods A total of 169 patients who underwent laparoscopic bariatric surgery at our hospital were included and divided into control group(group C),nalbuphine group(group N),dexmedetomidine group(group D),and nalbuphine combined with dexme-detomidine group(group ND)using randomised numerical table method.Group C received intravenous injection of saline,group N and group ND received intravenous injection of nalbuphine before the end of the surgery,and group D and group ND received pumping of dexmedetomidine before anesthesia induction and during surgery.Compare the postoperative recovery quality score(QoR-40),hemodynamics at different time points,visual analogue scale score(VAS),sedation-agitation scale(SAS),first time out of bed activity and exhaust time,and incidence of nausea and vomiting among four groups.Results The postoperative QoR-40 scores of patients in group ND were better than those in group C and group N(P<0.05),and the QoR-40 scores in group D were better than those in group C(P<0.05).MAP and HR were more stable during the awakening period in group ND and group D(P<0.05).Compared with group C,patients in all three groups had lower VAS scores and SAS scores(P<0.05)and consumed less remedial analgesic medication(P<0.05).In terms of adverse reactions,the incidence of postoperative nausea,vomiting and coughing in the group ND was lower than that in the group C(P<0.05).Conclusion The combination of nalbuphine and dexmedetomidine could improve the quality of postoperative recovery and pain in patients under-going laparoscopic bariatric surgery,reduce hemodynamic fluctuations during the patients′ recovery period,reduce the incidence of nausea and vomiting,and improve the patients′ prognosis.
8.Investigation of hyperuricemia in aircrew and analysis of the correlation with other biochemical indexes
Chang LIU ; Yingnan CHEN ; Xue GUAN ; Dan YANG ; Songnan CHEN ; Guanglei CHEN
Chinese Journal of Aerospace Medicine 2024;35(2):115-119
Objective:To provide references for the prevention and treatment of hyperuricemia (HUA) in aircrews by investigating the prevalence of HUA in aircrews and analyzing the correlation between HUA and other biochemical indicators.Methods:The physical examination data of male aircrews who participated in physical examination in Beidaihe Rehabilitation and Recuperation Center of PLA from 2020 to 2022 were retrospectively analyzed. According to the year, they were divided into 2020, 2021 and 2022 groups. According to the age, they were divided into 20-29, 30-39, 40-49 and 50-59 years groups. The prevalence of HUA among different years and age groups were compared and analyzed. The subjects were divided into HUA group and non-HUA group according to whether they had HUA. The differences of physical examination indexes were compared between 2 groups, and the potential effects of other biochemical indexes on HUA were analyzed by multivariate Logistic regression.Results:A total of 2 365 aircrews were enrolled. Eight hundred and sixty-six aircrews were diagnosed as HUA, accounting for 36.62%. The prevalence rate increased year by year, and the difference was statistically significant ( χ2=6.70, P=0.010). There was no significant difference in prevalence rate among different age groups ( P>0.05). There were significant differences in creatinine ( t=9.40, P<0.001), serum uric acid ( t=59.66, P<0.001), urea nitrogen ( t=4.60, P<0.001), direct bilirubin ( Z=3.40, P=0.001), alanine aminotransferase ( Z=7.59, P<0.001), low density lipoprotein cholesterol ( t=5.89, P<0.001), triglyceride ( Z=8.02, P<0.001) and total cholesterol ( t=6.79, P<0.001) between HUA group and non-HUA group. Multivariate Logistic regression analysis showed that increased alanine aminotransferase ( OR=1.014, P<0.001), urea nitrogen ( OR=1.091, P<0.001), creatinine ( OR=1.038, P<0.001), and triglyceride ( OR=1.164, P=0.001) level were the risk factors for HUA. Conclusions:The prevalence of HUA in aircrew is increasing year by year. Alanine aminotransferase, urea nitrogen, creatinine and triglyceride are the risk factors for HUA. It is suggested that attention should be paid to the increasing trend of HUA in aircrews year by year, to the impact of abnormal liver and kidney function on metabolism and blood lipid levels, and early intervention measures should be taken for related risk factors.
9.Clinical efficacy of da Vinci Xi surgical system assisted laparoscopic exocytosis for hepatic echinococcosis
Jie ZHANG ; Wei SONG ; Zhide LI ; Chao MA ; Yupeng LI ; Guanglei TIAN ; Jinguo WANG ; Yuan MENG ; Xiong CHEN
Chinese Journal of Digestive Surgery 2023;22(4):546-551
Objective:To investigate the clinical efficacy of da Vinci Xi surgical system assisted laparoscopic exocytosis for hepatic echinococcosis.Methods:The retrospective and descriptive study was conducted. The clinicopathological data of 7 patients who underwent da Vinci Xi surgical system assisted laparoscopic exocytosis for hepatic echinococcosis in Xinjiang Uiger Municipal People′s Hospital from October 2019 to July 2021 were collected. There were 3 males and 4 females, aged (43±12)years. Observation indicators: (1) surgical situations; (2) complications; (3) follow-up. Mea-surement data with normal distribution were represented as Mean±SD, and measurement data with skewed distribution were represented as M(range). Count data were described as absolute numbers. Results:(1) Surgical situations. All 7 patients underwent da Vinci Xi surgical system assisted laparoscopic exocytosis for hepatic echinococcosis successfully, without conversion to laparotomy and laparoscopic surgery. None of the 7 patients underwent intraoperative blood transfusion and the operation time, volume of intraoperative blood loss, time to postoperative first and flatus, time to postoperative initial liquid food intake, time to postoperative abdominal drainage tube removal, time to postoperative urethral catheter removal, duration of postoperative hospital stay of 7 patients was (225±45)minutes, 100(range, 50-200)mL, (1.9±0.7)days, (4.2±1.2)days, (7±4)days, (2.9±0.8)days, (7±4)days, respectively. (2) Complications. None of the 7 patients had postoperative complications such as bile leakage, abdominal hemorrhage, incision infection, hydatid cavity infection, secondary operation, intestinal obstruction, pulmonary infection and deep venous thrombosis of lower limbs. (3) Follow-up. All 7 patients were followed up for 7 (range, 3-12) months. None of the 7 patients had recurrence of hepatic echinococcosis or peritoneal implantation and incision implantation, and all patients survived during follow-up.Conclusion:da Vinci Xi surgical system assisted laparoscopic exocytosis for hepatic echinococcosis is safe and feasible.
10.Clinical characteristics and genetic analysis of 3 children with Mowat-Wilson syndrome.
Taocheng ZHOU ; Yuchen WANG ; Dong LIANG ; Lulu CHEN ; Fuling YE ; Hongyao CAO ; Guanglei TONG
Chinese Journal of Medical Genetics 2022;39(9):944-948
OBJECTIVE:
To explore the genetic basis of three children with unexplained mental retardation/developmental delay.
METHODS:
Peripheral venous blood samples were collected for routine G-banding karyotyping analysis and chromosomal microarray analysis (CMA). Whole exome sequencing (WES) was also carried out for patient 3.
RESULTS:
The karyotypes of the 3 children were normal. The result of CMA analysis of patient 1 was arr[GRCh37]: 2q22/3(145 128 071-145 159 029)×1, with a 31 kb deletion, which was predicted to be a pathogenic copy number variation. The deletion has involved exons 8 to 10 of the ZEB2 gene. Patient 2 was arr[hg19]:2q22.3 (145 071 457-146 881 759)×1, with a 1.81 Mb deletion involving the ZEB2 and GTDC1 genes. Patient 3 was arr[GRCh37]: 9p23p23(11 698 261-12 106 261)×1, with a 408 kb deletion containing no disease-associated gene. WES has identified a c.2102C>A (p.Ser701*) variant in exon 8 of the ZEB2 gene, which was included in ClinVar database and rated as pathogenic, and verified by Sanger sequencing as a de novo variant.
CONCLUSION
For the substantial clinical and genetic heterogeneity of Mowat-Wilson-syndrome, CMA and WES are helpful to identify the etiology of children with developmental delay/mental retardation of unknown causes, particularly those with peculiar facial features and multiple congenital malformations.
Child
;
DNA Copy Number Variations
;
Facies
;
Glycosyltransferases/genetics*
;
Hirschsprung Disease
;
Humans
;
Intellectual Disability/genetics*
;
Microcephaly/genetics*


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