Double-column Die-punch fractures of distal radius treated with butterfly plate fixation via Henry approach / 中国骨伤

OBJECTIVE@#To explore clinical effect of open reduction and internal fixation with Henry's approach butterfly plate in treating double-column Die-punch fractures of distal radius.@*METHODS@#From January 2018 to June 2021, 26 patients with double-column Die-column distal radius were treated with open reduction and internal fixation through Henry's surgical approach and using distal radius volar column plate(butterfly plate), including 14 males and 12 females, aged from 20 to 75 years old with an average age of (44.2±3.4) years old. Postopertaive complications were observed, Gartland-Werley score at 12 months after opertaion was used to evaluate wrist joint function.@*RESULTS@#All 26 patients were followed up from 10 to 18 months with an average of(13.4±0.8) months. All fractures were obtained fracture union, the time ranged from 8.5 to 15.8 weeks with an average of (11.4±0.5) weeks. All incisions healed at stageⅠwithout infection, nerve injury and internal fixation failure occurred. Postoperative Gartland-Werley score at 12 months was (3.65±0.36), and 16 patients got excellent result, 8 good and 2 moderate.@*CONCLUSION@#Open reduction and internal fixation with butterfly plate for the treatment of double-column Die-punch fractures of the distal radius through volar Henry approach could obtain satisfactory clinical outcomes.

Systematic comparison of two kinds of Bufonis Venenum derived from different Bufo gargarizans subspecies based on metabolomics and antitumor activity / 中国中药杂志

This paper compared the differences between two kinds of Bufonis Venenum produced by Bufo gargarizans gargarizans and B. gararizans andrewsi, and verified the rationality of the market value orientation of Bufonis Venenum based on the zebrafish mo-del. Twenty batches of Bufonis Venenum from Jiangsu province, Hebei province, Liaoning province, Jilin province, and Liangshan, Sichuan province, including B. gargarizans gargarizans and B. gararizans andrewsi, were collected. The UHPLC-LTQ-Orbitrap-MS combined with principal component analysis was used to compare the differences between two kinds of Bufonis Venenum. According to the limiting conditions of VIP>1, FC<0.5 or FC>2.0, and peak total area ratio>1%, 9 differential markers were determined, which were cinobufagin, cinobufotalin, arenobufagin, resibufogenin, scillaredin A, resibufagin, 3-(N-suberoylargininyl)-arenobufagin, 3-(N-suberoylargininyl)-marinobufagin, and 3-(N-suberoylargininyl)-resibufogenin. The content of 20 batches of Bufonis Venenum was determined according to the Chinese Pharmacopoeia(2020 edition) by high-performance liquid chromatography, and the 2 batches of Bufonis Venenum, CS7(8.99% of total content) and CS9(5.03% of total content), with the largest difference in the total content of the three quality control indexes of the Chinese Pharmacopoeia(bufalin, cinobufagin, and resibufogenin) were selected to evaluate their anti-liver tumor activity based on the zebrafish model. The tumor inhibition rates of the 2 batches were 38.06% and 45.29%, respectively, proving that only using the quality control indexes of the Chinese Pharmacopoeia as the value orientation of Bufonis Venenum market circulation was unreasonable. This research provides data support for the effective utilization of Bufonis Venenum resources and the establishment of a rational quality evaluation system of Bufonis Venenum.

Prevalence of osteoporosis and related factors in postmenopausal women aged 40 and above in China / 中华流行病学杂志

Objective: To understand the prevalence of osteoporosis and related factors in postmenopausal women aged ≥40 years in China and provide scientific evidence for osteoporosis prevention and control. Methods: Data of this study were from the 2018 China Osteoporosis Epidemiological Survey, covering 44 counties (districts) in 11 provinces in China. Related variables were collected by questionnaire survey and physical measurement, and the BMD of lumbar spine and proximal femur was measured by dual-energy X-ray absorption method. The prevalence of osteoporosis and its 95%CI in postmenopausal women aged ≥40 years were estimated with complex sampling weights. Results: A total of 5 728 postmenopausal women aged ≥40 years were included in the analysis and the prevalence of osteoporosis was 32.5% (95%CI: 30.3%-34.7%). The prevalence of osteoporosis in postmenopausal women aged 40-49 years, 50-59 years, 60-69 years, 70-79 years, and ≥80 years were 16.0% (95%CI:4.5%-27.5%), 18.4% (95%CI:15.9%-20.8%), 37.5% (95%CI:34.5%-40.4%), 52.9% (95%CI: 47.5%-58.3%), and 68.0% (95%CI:55.9%-80.1%) respectively. The prevalence of osteoporosis was higher (P<0.001) in those with education level of primary school or below (47.2%, 95%CI: 43.0%-51.3%) and in those with individual annual income less than 10 000 Yuan, (40.3%, 95%CI: 36.9%-43.7%). The prevalence of osteoporosis was 35.1% in rural areas (95%CI: 32.0%-38.1%), which was higher than that in urban areas (P<0.001). The prevalence of osteoporosis in low weight, normal weight, overweight and obese groups were 69.9% (95%CI: 59.0%-80.8%), 42.2% (95%CI: 38.7%-45.7%), 24.2% (95%CI: 21.3%-27.1%) and 14.6% (95%CI: 11.1%-18.0%), respectively. The prevalence of osteoporosis in those with menstrual maintenance years ≤30 years and in those with menopause years ≥11 years were 46.1% (95%CI:40.8%-51.3%) and 48.2% (95%CI:45.0%-51.3%), respectively. Multivariate logistic analysis showed that age ≥60 years, education level of primary school or below, annual household income per capita less than 10 000 Yuan, low body weight, menstrual maintenance years ≤30 years, menopause years ≥11 years were risk factors of osteoporosis in postmenopausal women in China. Conclusions: The prevalence of osteoporosis was high in postmenopausal women aged ≥40 years in China, and there were differences in osteoporosis prevalence among different socioeconomic groups. Effective interventions should be taken for the prevention and control of osteoporosis in key groups in the future.

Congenital extralobar pulmonary sequestration supplied by pulmonary artery: a case report / 中华围产医学杂志

We report the clinical features of a case of congenital extralobar pulmonary sequestration in the left upper lobe supplied by the pulmonary artery. Prenatal ultrasound examination at 24 weeks of gestation revealed a high echogenic and uniform density mass in the fetal left thoracic cavity with the congenital pulmonary airway malformation volume vatio (CVR) of 1.16, which was supplied by pulmonary arterial vessels. MRI examination at 27 weeks indicated that the left lung volume increased to about 48.52 ml, while the right lung volume was about 8.56 ml giving the total lung volume of 57.08 ml. The congenital pulmonary airway malformation in the left upper lobe was suspected to be congenital bronchial atresia (CBA) or congenital lobar overinflation (CLO). The baby boy was born through vaginal delivery assisted by forceps at 38 +1 weeks without neonatal asphyxia. Postnatal CT and MRI were both indicated suspicious bronchial atresia in the left upper lobe. Bronchofibroscopy on postnatal day 2 excluded CBA or CLO and extralobar pulmonary sequestration was considered. Thoracoscopic surgery was performed due to continuous shortness of breath after birth, despite two-week conservative treatment including oxygenation, invasive and non-invasive mechanical ventilation,etc, and congenital extralobar sequestration was diagnosed. Blood supply from the left pulmonary artery was observed at the base of abnormal lung tissue. Resection of the pathogenic tissue of the left lung was performed thoracoscopically. The boy recovered and was discharged after the operation. Pulmonary sequestration was confirmed by histopathology.

Efficacy of endovascular treatment of distal aortic dissection involving abdominal visceral segment with bare-metal stents related technique / 中华心血管病杂志

Objective: To investigate the effect of bare-metal stent related technique on distal aortic dissection involving abdominal visceral segment. Methods: A retrospective analysis was performed on clinical data of 33 patients with distal aortic dissection involved abdominal visceral segment, who hospitalized in the Vascular Surgery Department of Shanghai Changhai Hospital from July 2012 to September 2019. The effect of the treatment was evaluated according to the clinical and preoperative, intraoperative and follow-up imaging data derived from (aorta computed tomography angiography (CTA) and digital subtraction angiography (DSA)) as well as the changes of the maximal diameter of the aorta and the thrombosis of the false lumen of the dissection. The criteria were as follows: the maximum diameter change of aortic dissection<5 mm was defined as stable; the maximum diameter decrease of aortic dissection≥5 mm was defined as effective reduction; the maximum diameter increase of aortic dissection≥5 mm was defined as expansion; the definition of diameter change of false lumen was the same as above. The hospital complications, clinical symptoms and survival were recorded. Results: There were 28 male patients in this cohort, the mean age was (57.6±4.9) years old. Twenty-one patients were treated with bare-metal stent and coils technique, of which 8 patients were jointly treated with stent grafts. Twelve patients were treated with multi-layer bare-metal stent technique, of which 4 patients were jointly treated with stent grafts. Intraoperative DSA image results showed that the visceral arteries were patent during the treatment, and the blood flow velocity of the false lumen was reduced in all 33 patients. There were no adverse events such as distal outflow tract embolism and coil displacement during the operation. During the period of hospitalization, one patient developed intimal rupture of subrenal abdominal aortic dissection on the fourth day after operation and emergency endovascular graft exclusion was performed for abdominal aortic dissection, and the patient recovered well from the emergency operation. The follow-up time was (16.7±14.0) months. One patient died 1 year after surgery due to non-disease-related factors. Follow-up CTA imaging results showed that the maximum diameter of the aorta in abdominal visceral segment tended to be smaller ((39.1±13.4) mm vs. (41.3±11.9) mm, P=0.469), and the maximum diameter of the false lumen was significantly reduced ((16.2±12.9) mm vs. (23.5±10.7) mm, P=0.014). The maximum diameter of the aortic dissection was reduced in 12 cases, stable in 19 cases, expanded in 2 cases. The maximum diameter of the false lumen was effectively reduced in 22 cases, stable in 10 cases, and expanded in 1 case. Four patients developed small endoleak in the false lumen, one of them was nearby the renal artery stent, and the remaining patients experienced complete thrombosis of the false lumen. Conclusions: Endovascular treatment of distal aortic dissection involving abdominal visceral segment with bare-metal stents related technique could promote the shrink and the thrombosis of the false lumen, and slow down the blood flow from the tear into the false lumen in the setting of patency of visceral arteries.

Congenital malignant rhabdoid tumor in a fetal neck: a case report / 中华围产医学杂志

We report the clinical characteristics of congenital malignant rhabdoid tumor (MRT) of the neck in a fetus. Prenatal ultrasound and MRI at 33 +4 and 34 weeks gestation revealed a round solid mass on the right side of the fetus' neck. An initial differential diagnosis was between neuroblastoma and vascular malformation. Re-examination with ultrasound at 36 gestational weeks revealed an enlarged fetal neck mass, with concomitant multiple subcutaneous solid masses all over his body, right-side hydrothorax, and abnormal liver echo, which were highly suspicious of metastasis of a malignant tumor. The baby boy was delivered by cesarean section at 37 weeks of gestation with a normal Apgar score and slight shortness of breath. Physical examination showed scattered lesions in the neck, armpits, and limbs, etc. The condition of the infant deteriorated rapidly with the increasing number and volume of the masses after admission. The boy was confirmed as MRT (stage Ⅳ) by pathological biopsy on the left upper arm and died on postnatal day 10 after treatment was withdrawn.

Effect of Huanglian Jiedutang on Learning and Memory Ability and Cholinergic System in AD Rats Induced by Aβ1-42 / 中国实验方剂学杂志

Objective:To investigate the effects of Huanglian Jiedutang on learning and memory ability and the cholinergic system in Alzheimer's disease（AD） rats induced by amyloid <italic>β</italic>-protein（A<italic>β</italic>）_1-42. Method:Sixty male SD rats were divided into normal group， model group， huperzine A group （2.1×10^-5 g·kg^-1）， high-， medium- and low dose of Huanglian Jiedutang groups （6，3，1.5 g·kg^-1）. AD rat model was replicated by hippocampal injection of A<italic>β</italic>_1-42. After 4 weeks of treatment， Morris water maze test was performed. Hematoxylineosin （HE） staining was used to observe the pathological changes of rat hippocampus. Sampling blood from abdominal aorta was taken. Acetylcholine （ACh）， acetylcholinesterase （AchE） and choline acetyltransferase （ChAT） in serum and hippocampus were detected by enzyme-linked immunosorbent assay （ELISA）. The expression of hippocampal <italic>α</italic>7 nicotinic acetylcholine receptor （<italic>α</italic>7nAChR） protein was detected by Western blot. The expression of hippocampal <italic>α</italic>7nAChR mRNA was detected by Real-time fluorescence quantitative polymerase chain reaction （Real-time PCR）. Result:Compared with the normal group， there were obvious pathological changes in the model group，such as neuron necrosis in the cerebral cortex，pyramidal cell or granular cell necrosis in the hippocampus，disorder of arrangement and inflammatory cell infiltration，prolonged escape latency，decreased escape platform times，decreased residence time in the effective area and swimming path in the effective area （<italic>P<</italic>0.05，<italic>P<</italic>0.01）. The contents of <italic>α</italic>7nAChR mRNA，ACh，AchE，ChAT，<italic>α</italic>7nAChR in the hippocampus decreased （<italic>P<</italic>0.01）. Compared with the model group，the escape latency of the middle dose group was shorter （<italic>P<</italic>0.05）， the escape platform times，the swimming path in the effective area and the residence time in the effective area increased （<italic>P<</italic>0.05，<italic>P<</italic>0.01）， the contents of serum ACh，ChAT， hippocampal AchE，ChAT and <italic>α</italic>7nAChR increased （<italic>P<</italic>0.05，）. The expression of hippocampal <italic>α</italic>7nAChR protein significantly increased （<italic>P<</italic>0.01）， the residence time of effective area in high dose group was prolonged （<italic>P<</italic>0.01）， the times of escape platform increased，and the contents of serum ACh，ChAT and hippocampal ACh，AchE，<italic>α</italic>7nAChR protein and <italic>α</italic>7nAChR mRNA increased （<italic>P<</italic>0.05）. Conclusion:Huanglian Jiedutang can significantly improve the learning and memory ability of AD rats induced by A<italic>β</italic>_1-42，and its mechanism may be related to the improvement of cholinergic system damage and enhancement of cholinergic system function induced by A<italic>β</italic>_1-42.

Risk factors of necrotizing enterocolitis after surgery for intestinal atresia / 中国新生儿科杂志

Objective:To study the risk factors of necrotizing enterocolitis (NEC) after surgery for intestinal atresia.Method:From August 2013 to June 2020, children with intestinal atresia receiving surgery in our hospital were retrospectively reviewed. The patients were assigned into NEC group and non-NEC group according to the occurrence of postoperative NEC. Demographic data and clinical characteristics were summarized and the risk factors for postoperative NEC were analyzed using Logistic regression analysis method.Result:A total of 96 infants were enrolled and NEC occurred in 13 patients (13.5%) after surgery for intestinal atresia. Compared with the non-NEC group, the NEC group were diagnosed of intestinal atresia [4.0(1.5,6.0)d vs. 1.4(0,2.0)d, P<0.001] and received surgery [4.8(2.0,7.0)d vs. 3.1(1.0,4.0)d, P=0.034] at later ages. The incidences of complex intestinal atresia [76.9%(10/13) vs. 44.6%(37/83), P=0.030] and blood transfusion [46.2%(6/13) vs. 13.3%(11/83), P=0.007] in the NEC group were higher than the non-NEC group. Logistic regression analysis showed that the age of initial diagnosis of intestinal atresia ( OR=3.346, 95% CI 1.493~7.500, P=0.003), complex intestinal atresia ( OR=9.052, 95% CI 1.119~73.209, P=0.039) and blood transfusion ( OR=6.835, 95% CI 1.399~33.380, P=0.018) were independent risk factors for postoperative NEC. Conclusion:Patients with delayed diagnosis of intestinal atresia, complex intestinal atresia and blood transfusion within 48 hours after surgery should be monitored for the occurrence of postoperative NEC.

Development status of telesurgery robotic system / 中华创伤杂志(英文版)

As an emerging field, telesurgery robotic system is changing the traditional medical mode and can delivery remote surgical treatment anywhere in the world. Advances in telesurgery robotic technology achieve the remote control beyond the current limitation of distance and special medical environment. This review introduces the development history, the current status and the potential in future of the telesurgery robotic system. In addition, it presents the construction of control platform and the application, especially in trauma treatment, as well as the challenge in clinic.

Comparison on efficacy and safety of different bridging anticoagulation therapies in patients undergoing mechanical heart valve replacement surgery / 中华心血管病杂志

Objective: To evaluate the efficacy and safety of different bridging anticoagulant therapies in patients undergoing mechanical heart valve replacement (MHVR) surgery. Methods: Consecutive patients undergoing MHVR surgery from January 2018 to December 2018 in First Hospital of Lanzhou University were prospectively enrolled in this study. Patients were divided into unfractionated heparin (UFH) group and low molecular weight heparin (LMWH) group according to the postoperative bridging anticoagulation methods. Preoperative clinical data and postoperative related time and cost parameters, including drainage time, duration of stay in intensive care unit (ICU), postoperative time (interval from end of operation to discharge) and INR stabilization time (interval from start of bridge anticoagulation to INR value reaching the standard for 2 consecutive days) of all enrolled patients were collected, and all patients were followed up for 4 weeks and thromboembolic or bleeding events were analyzed. Multivariate logistic regression was used to determine the independent prognostic factors of thromboembolic or bleeding events after MHVR receiving various bridging anticoagulant therapies. Results: A total of 217 patients were included in the study, including 120 patients in the UFH group and 97 patients in the LMWH group. Stroke occurred in two patients in the UFH group, while no stroke event occurred in the LMWH group. The incidence of bleeding events was significantly higher (9.28%(9/97) vs. 1.67%(2/120), P=0.02), while the drainage time, duration of stay in ICU, postoperative time, INR stabilization time were all significantly shorter in LMWH group than in UFH group (all P<0.05). Multivariate logistic regression analysis showed that bridging anticoagulation therapies (OR=0.18, 95%CI 0.04-0.86, P=0.03), fibrinogen level (OR=1.99, 95%CI 1.16-3.41, P=0.01) and creatinine level (OR=1.05, 95%CI 1.01-1.08, P=0.04) were independent prognostic factors for bleeding events. Conclusion: LMWH use is associated with increased risk of bleeding events, but can significantly reduce the drainage time, duration of stay in ICU, postoperative time, INR stabilization time in patients post MHVR surgery.

Anti-inflammatory Mechanism of Epimedii Folium in Treatment of Depression Based on Network Pharmacology and Molecular Docking / 中国实验方剂学杂志

Objective:To predict the anti-inflammatory targets and relevant signaling pathways of Epimedii Folium in the treatment of depression by network pharmacology，in order to explore the potential mechanism of its anti-depression effect. Method:The active constituents of Epimedii Folium were collected and screened out through the Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform（TCMSP） database. PharmMapper server and TCMSP database were used to predict and screen out protein targets. OMIM database，CTD database and GeneCards database were used to screen out relevant targets and anti-inflammatory targets of depression. Enrichment analysis of the gene ontology （GO） function and Kyoto Encyclopedia of genes and genomes（KEGG） signaling pathway for the key anti-inflammatory targets of Epimedii Folium were carried out by DAVID database. Cytoscape 3.6.0 was used to construct the network diagram of "active component-action target-signal pathway" of Epimedii Folium and analyze the topological structure of the network. GOLD molecular docking software was used to verify the results of active components and key anti-inflammatory targets. Result:A total of 12 active components，30 targets and 5 key anti-inflammatory targets of Epimedii Folium were screened out， 65 biological processes，4 cell components and 1 molecular function were enriched with GO function， and 41 KEGG pathways were enriched and analyzed，including 9 inflammation-related signaling pathways. Molecular docking verified that icariin and key anti-inflammatory targets could form the optimal binding structure. Conclusion:The study preliminarily reveals the molecular mechanism of Epimedii Folium on depression through its anti-inflammatory target and its relevant signaling pathway network，so as to provide a basis for further study on the antidepressant effect of Epimedii Folium.

Perinatal outcome of 71 cases of primary fetal pleural effusion / 中华实用儿科临床杂志

Objective@#To explore the perinatal outcome of antenatally diagnosed primary fetal hydrothorax (FHT), and to provide management experience for FHT.@*Methods@#The clinical data of 80 cases with FHT, from January 2014 to February 2018 in Guangdong Women and Children Hospital, were retrospectively analyzed.@*Results@#Among 80 cases of FHT, the median age of the pregnant women was 29 years old (24-33 years old), while the median gestational age at diagnosis was 29+ 1 weeks(24-32 weeks), among them, 9 cases were lost to follow-up.Among the other 71 cases, 48 cases(67.6%) developed fetal edema, 44 cases (62.0%) involved bilateral pleural effusion, and 35 cases (49.3%) were associated with polyhydramnios.The rate of thoracoamniotic shunting and thoracentesis were 29.6% (21/71 cases) and 7.0% (5/71 cases), respectively.Among 71 cases of FHT, the overall survival rate was 63.4% (45/71 cases), the rate of termination of pregnancy was 22.5% (16/71 cases), including 2 cases which were chosen for termination of pregnancy after thoracoamniotic shunting due to poor control.Among the 55 continued gestation cases, 7 cases died in uterus, and the survival rate of fetal hydropic cases and non-hydropic cases was 70.6% and 100.0%, respectively, and the difference was statistically significant(P<0.05). Among the 48 cases of hydropic cases, there were 34 cases (70.8%) chosen to continue the pregnancy, the survival rate of non-intervention group (13 cases), thoracentesis group (4 cases) and thoracoamniotic shunting group (17 cases) were 53.8%, 75.0% and 82.4%, respectively, and the difference was statistically significant (P<0.05).@*Conclusions@#Fetal hydrops predicted a poor prognosis in PFHT.Timely intrauterine intervention could effectively improve the prognosis of PFHT and improve the survival rate.

The application of neonate lung ultrasound in congenital pulmonary airway malformation / 中华超声影像学杂志

Objective@#To analyze the characteristics of lung ultrasound (LUS) in congenital pulmonary airway malformation (CPAM), and to compare the difference of image characteristics between LUS and chest X-ray(CXR) and evaluate the value of neonate LUS in CPAM.@*Methods@#From June 2017 to October 2018, the characteristics of LUS and CXR of 32 neonates who were diagnosed with CPAM by prenatal ultrasound and postnatal chest CT were analyzed retrospectively, and the difference of their direct signs and indirect signs were compared.@*Results@#Among 32 CPAM cases, 10 cases (31.25%) showed a single large cystic lesions and 3 cases with consolidation, 4 cases (12.5%) characterized by multiple hypoechoic lesions and 3 cases with consolidation, 16 cases (50%) showed consolidation with or without intensiveaerated bronchus sign or dendritic air-filled bronchi, 2 cases (6.25%) only characterized by dense B-line. The non-characteristic sonographic findings including pleural line was not smooth and not clear; A-line decreased or disappeared, dense B-lines were observed. The ability of LUS in measuring the size of CPAM was limited.Among 32 CPAM cases, 10 cases (31.25%) showed large cystic hypoechoic lesions and 22 cases (68.75%) showed small cystic hypoechoic lesions by CT scan. In this group, there were 11 cases(34.4%) with normal CXR. There was no significant differences of the direct signs (including single large cystic lesions and multiple hypoechoic lesions) between LUS and CXR (P=0.80), however the indirect signs of LUS were more obvious than CXR, with significant difference(P=0.001).@*Conclusions@#The neonatal LUS findings of CPAM is multiple, it can be used as a preliminary qualitative screening method.The diagnosis value of indirect sign of LUS is superior to CXR.

Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system / 中华医学杂志(英文版)

BACKGROUND@#Osteogenesis imperfecta (OI), a heritable bone fragility disorder, is mainly caused by mutations in COL1A1 gene encoding α1 chain of type I collagen. This study aimed to investigate the COL1A1 mutation spectrum and quantitatively assess the genotype-phenotype relationship in a large cohort of Chinese patients with OI.@*METHODS@#A total of 161 patients who were diagnosed as OI in Department of Endocrinology of Peking Union Medical College Hospital from January 2010 to December 2017 were included in the study. The COL1A1 mutation spectrum was identified by next generation sequencing and confirmed by Sanger sequencing. A new clinical scoring system was developed to quantitatively assess the clinical severity of OI and the genotype-phenotype relationship was analyzed. The independent sample t-test, analysis of variance, Mann-Whitney U-test, Chi-squared test, Pearson correlation, and multiple linear regression were applied for statistical analyses.@*RESULTS@#Among 161 patients with OI, 32.9% missense mutations, 16.8% non-sense mutations, 24.2% splice-site mutations, 24.8% frameshift mutations, and 1.2% whole-gene deletions were identified, of which 38 variations were novel. These mutations led to 53 patients carrying qualitative defects and 67 patients carrying quantitative defects in type I collagen. Compared to patients with quantitative mutations, patients with qualitative mutations had lower alkaline phosphatase level (296 [132, 346] U/L vs. 218 [136, 284] U/L, P = 0.009) and higher clinical score (12.2 ± 5.3 vs. 7.4 ± 2.4, P < 0.001), denoting more severe phenotypes including shorter stature, lower bone mineral density, higher fracture frequency, more bone deformity, vertebral compressive fractures, limited movement, and dentinogenesis imperfecta (DI). Patients would not present with DI if the glycine substitutions happened before the 79th amino acid in triple helix of α1 chains.@*CONCLUSIONS@#This presented distinctive COL1A1 mutation spectrum in a large cohort of Chinese patients with OI. This new quantitative analysis of genotype-phenotype correlation would be helpful to predict the prognosis of OI and genetic counseling.

Perinatal outcome of 71 cases of primary fetal pleural effusion / 中华实用儿科临床杂志

Objective To explore the perinatal outcome of antenatally diagnosed primary fetal hydrothorax (FHT),and to provide management experience for FHT. Methods The clinical data of 80 cases with FHT,from January 2014 to February 2018 in Guangdong Women and Children Hospital,were retrospectively analyzed. Results Among 80 cases of FHT,the median age of the pregnant women was 29 years old(24-33 years old),while the median gestational age at diagnosis was 29+1 weeks(24 -32 weeks),among them,9 cases were lost to follow-up. Among the other 71 cases,48 cases(67. 6% )developed fetal edema,44 cases(62. 0% )involved bilateral pleural effusion,and 35 cases (49. 3% )were associated with polyhydramnios. The rate of thoracoamniotic shunting and thoracentesis were 29. 6% (21/71 cases)and 7. 0% (5/71 cases),respectively. Among 71 cases of FHT,the overall survival rate was 63. 4% (45/71 cases),the rate of termination of pregnancy was 22. 5%(16/71 cases),including 2 cases which were chosen for termination of pregnancy after thoracoamniotic shunting due to poor control. Among the 55 continued gestation cases,7 cases died in uterus,and the survival rate of fetal hydropic cases and non-hydropic cases was 70. 6% and 100. 0% ,re-spectively,and the difference was statistically significant(P<0. 05). Among the 48 cases of hydropic cases,there were 34 cases(70. 8% )chosen to continue the pregnancy,the survival rate of non-intervention group(13 cases),thoracentesis group(4 cases)and thoracoamniotic shunting group(17 cases)were 53. 8% ,75. 0% and 82. 4% ,respectively,and the difference was statistically significant( P<0. 05). Conclusions Fetal hydrops predicted a poor prognosis in PFHT. Timely intrauterine intervention could effectively improve the prognosis of PFHT and improve the survival rate.

The prenatal intervention progress of primary fetal hydrothoraX / 中华实用儿科临床杂志

Drimary fetal hydrothorax(DPHT)is an uncommon congenital disease. Petal hydrothorax is thought to be due to leakage of lymphatic fluid in the pleural space either caused by direct leakage of lymphatic fluid from the thoracic duct,overproduction or impaired drainage of lymph. The outcome of fetal hydrothorax may vary from spon_taneous resolution without postnatal morbidity to severe fetal hydrops and perinatal death. At present,there is no consen_sus on the treatment of DPHT. Now,the latest researches progress on prenatal ultrasonographic characteristics,prenatal diagnostic procedures,prenatal intervention,and prognosis in DPHT,were reviewed combined with the diagnosis and treatment principle of single center in Guangdong Women and Childrenˊs Hospital,which would provide useful guidance for clinical treatment of DPHT.

The application of neonate lung ultrasound in congenital pulmonary airway malformation / 中华超声影像学杂志

Objective To analyze the characteristics of lung ultrasound (LUS) in congenital pulmonary airway malformation (CPAM),and to compare the difference of image characteristics between LUS and chest X-ray(CXR) and evaluate the value of neonate LUS in CPAM.Methods From June 2017 to October 2018,the characteristics of LUS and CXR of 32 neonates who were diagnosed with CPAM by prenatal ultrasound and postnatal chest CT were analyzed retrospectively,and the difference of their direct signs and indirect signs were compared.Results Among 32 CPAM cases,10 cases (31.25％) showed a single large cystic lesions and 3 cases with consolidation,4 cases (12.5％) characterized by multiple hypoechoic lesions and 3 cases with consolidation,16 cases (50％) showed consolidation with or without intensiveaerated bronchus sign or dendritic air-filled bronchi,2 cases (6.25 ％) only characterized by dense B-line.The non-characteristic sonographic findings including pleural line was not smooth and not clear;A-line decreased or disappeared,dense B-lines were observed.The ability of LUS in measuring the size of CPAM was limited.Among 32 CPAM cases,10 cases (31.25 ％) showed large cystic hypoechoic lesions and 22 cases (68.75％) showed small cystic hypoechoic lesions by CT scan.In this group,there were 11 cases (34.4％) with normal CXR.There was no significant differences of the direct signs (including single large cystic lesions and multiple hypoechoic lesions) between LUS and CXR (P =0.80),however the indirect signs of LUS were more obvious than CXR,with significant difference(P =0.001).Conclusions The neonatal LUS findings of CPAM is multiple,it can be used as a preliminary qualitative screening method.The diagnosis value of indirect sign of LUS is superior to CXR.

Outcomes of severe primary fetal hydrothorax treated by prenatal intervention / 中华妇产科杂志

Objective@#To investigate the effect of intrauterine intervention on severe primary fetal hydrothorax.@*Methods@#Twelve cases with severe fetal primary hydrothorax who underwent prenatal intervention from January 2014 to December 2017 in Guangdong Women and Children Hospital were retrospectively reviewed.@*Results@#The median gestational age of prenatal diagnosis was 30.8 weeks (24.0-33.0 weeks) . All cases were excluded congenital chromosomal abnormalities by prenatal diagnosis, and had no complications of pregnancy during prenatal diagnosis and had hydrothorax. Three cases (3/12) were right hydrothorax, the other 9 cases (9/12) were bilateral. Thoracoamniotic shunting was performed in 7 cases (7/12) . Thoracentesis was performed in 5 cases (5/12) , and the hydrothorax reappeared soon after operation in 4 cases, shunt placement was performed again. The hydrothorax was dissolved in 2 cases, released in 6 cases.Tube falling off occurred in 1 case,treatment was abandoned in 1 case and intrauterine fetal death happened in 1 case, and 1 case wasn′t rechecked by ultrasonic due to premature birth following thoracentesis. In 10 cases who had deliveries, 5 newborns (5/10) were premature, 6 newborns (6/10) underwent assisted mechanical ventilation, 8 newborns (8/10) underwent thoracic close drainage, all of them were discharged when hydrothorax resolved.@*Conclusions@#Antenatal intervention may improve the chance of survival in severe primary fetal hydrothorax. Thoracoamniotic shunting is the first-choice for the primary severe fetal hydrothorax.

A homozygous mutation in TMEM38B causes rare osteogenesis imperfecta type XIV / 基础医学与临床

Objective To investigate the phenotype of a boy with osteogenesis imperfecta(OI)and detect the path-ogenic gene mutation in his family.Methods The clinical data of a uygur ethnic boy was investigated in detail, who suffered from early onset repeated fragile fractures.Bone turnover biomarkers, bone mineral density(BMD) and bone morphology were evaluated.The pathogenic mutations in this patient were investigated by targeted next-generation sequencing and subsequently confirmed by Sanger sequencing.Results Serum β-cross linked C-te-lopeptide of type Ⅰcollagen was elevated.Radiological assessment revealed a generalized osteoporosis in thoraco-lumbar spine,slender long bone with thin cortices.The pathogenic mutations in TMEM38B were detected as follow:a homozygous mutation c.507G>A transition in exon 4,which would generate a new downstream termination codon (p.W169X).His parents were heterozygous carriers of the mutation.Conclusions Mutation in TMEM38B is iden-tified for the first time in a uygur ethnic boy with extremely rare autosomal recessive OI type XIV.The clinical and genetic findings expands our understanding of rare OI induced by TMEM38B mutation.

Association of GNA11 gene polymorphisms with idiopathic hypoparathyroidism and its complications / 基础医学与临床

Objective To investigate the association of GNA 11 gene polymorphisms with idiopathic hypoparathyroidism (IHP) and its complications. Methods Two hundred and three patients with IHP and 209 control subjects were recruited at Peking Union Medical College Hospital from December 1987 to December 2015. The GNA11 gene polymorphisms were selected and genotyped by Sequenom MassArray iPLEX system.Results The minor allele T of rs308060 was associated with an increased risk of IHP in the additive [OR = 2.505(1.005-6.245) , P＜0.05; OR=3.269(1.264-8.458), P＜0.05]and recessive model[OR= 2.727(1.105-6.727), P＜0.05]. Although no significant difference was found in the incidence of intracranial calcification and cataract in IHP patients, the haplotype CTCGCT consisting of minor allele T of rs308060 was correlated with their 24 hours urinary calcium levels (β = 0. 186, P＜0.05). Conclusions The minor allele T of rs308060 in GNA11 means high risk of IHP, and is positively correlated with urinary calcium excretion in IHP patients after treatment with oral calcium and vitamin D analogs supplements.